| Name | Annotations | Location |
| A1BG | - | 19q13.4 |
| A1BG-AS1 | - | 19q13.4 |
| A1CF | protein stabilization; mRNA modification; cytidine to uridine editing; gene expression; mRNA processing | 10q11.23 |
| A2M | platelet degranulation; small GTPase mediated signal transduction; blood coagulation; blood coagulation, intrinsic pathway; platelet activation; stem cell differentiation; regulation of small GTPase mediated signal transduction; negative regulation of complement activation, lectin pathway | 12p13.31 |
| A2M-AS1 | - | 12p13.31 |
| A2ML1 | negative regulation of peptidase activity; regulation of endopeptidase activity | 12p13.31 |
| A2MP1 | - | 12p13.31 |
| A4GALT | lipid biosynthetic process; plasma membrane organization; glycosphingolipid biosynthetic process | 22q13.2 |
| A4GNT | glycoprotein biosynthetic process; protein O-linked glycosylation; carbohydrate metabolic process | 3p14.3 |
| AAAS | transmembrane transport; regulation of nucleocytoplasmic transport; small molecule metabolic process; cytokine-mediated signaling pathway; viral reproduction; glucose transport; regulation of glucose transport; carbohydrate metabolic process; nucleocytoplasmic transport; learning; hexose transport; fertilization | 12q13 |
| AACS | positive regulation of insulin secretion; cellular response to testosterone stimulus; cellular response to glucose stimulus; adipose tissue development; white fat cell differentiation; response to ethanol; response to starvation; response to drug; response to oleic acid; response to purine-containing compound; response to organic nitrogen; response to nutrient; fatty acid metabolic process; cellular response to cholesterol; lipid metabolic process; liver development | 12q24.31 |
| AACSP1 | - | 5q35.3 |
| AADAC | positive regulation of triglyceride catabolic process; metabolic process | 3q25.1 |
| AADACL2-AS1 | - | - |
| AADACL3 | metabolic process | 1p36.21 |
| AADACP1 | - | 3q25.1 |
| AADAT | glutamate metabolic process; 2-oxoglutarate metabolic process; lysine catabolic process; tryptophan catabolic process; biosynthetic process; tryptophan catabolic process to kynurenine; cellular nitrogen compound metabolic process; small molecule metabolic process; kynurenine metabolic process | 4q33 |
| AAED1 | - | 9q22.32 |
| AAGAB | protein transport | 15q22.33-q23 |
| AAK1 | protein autophosphorylation; protein stabilization; regulation of clathrin-mediated endocytosis; protein phosphorylation; positive regulation of Notch signaling pathway; regulation of protein localization; endocytosis | 2p14 |
| AAMDC | - | 11q14.1 |
| AAMP | angiogenesis; cell differentiation; smooth muscle cell migration; positive regulation of endothelial cell migration; multicellular organismal development | 2q35 |
| AANAT | response to prostaglandin E stimulus; response to cytokine stimulus; response to insulin stimulus; melatonin biosynthetic process; response to organic cyclic compound; response to zinc ion; response to light stimulus; circadian rhythm; cellular nitrogen compound metabolic process; small molecule metabolic process; indolalkylamine biosynthetic process; response to copper ion; response to corticosterone stimulus; response to cAMP; response to calcium ion | 17q25 |
| AAR2 | - | 20pter-q12 |
| AARD | lung development | 8q24.11 |
| AARS | tRNA aminoacylation for protein translation; protein folding; neuromuscular process controlling balance; negative regulation of neuron apoptosis; response to amino acid stimulus; endoplasmic reticulum unfolded protein response; skin development; cerebellar Purkinje cell layer development; gene expression; alanyl-tRNA aminoacylation; tRNA processing; hair follicle development; tRNA modification | 16q22 |
| AARS2 | tRNA aminoacylation for protein translation; alanyl-tRNA aminoacylation; gene expression | 6p21.1 |
| AARSD1 | tRNA aminoacylation; translation; alanyl-tRNA aminoacylation | 17q21.31 |
| AASDH | lipid metabolic process; fatty acid metabolic process | 4q12 |
| AASDHPPT | vitamin metabolic process; small molecule metabolic process; water-soluble vitamin metabolic process; macromolecule biosynthetic process; pantothenate metabolic process | 11q22 |
| AASS | lysine catabolic process; L-lysine catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process; protein tetramerization | 7q31.3 |
| AATBC | - | 21q22.3 |
| AATF | response to DNA damage stimulus; positive regulation of transcription from RNA polymerase II promoter; negative regulation of amyloid precursor protein biosynthetic process; ribosome biogenesis; embryonic cleavage; negative regulation of superoxide anion generation; induction of apoptosis by extracellular signals; regulation of mitotic cell cycle; cell adhesion; anti-apoptosis; apoptotic process; nerve growth factor receptor signaling pathway; negative regulation of reactive oxygen species metabolic process | 17q12 |
| AATK | protein autophosphorylation; apoptotic process | 17q25.3 |
| AATK-AS1 | - | 17q25.3 |
| ABALON | - | 20q11.21 |
| ABAT | response to iron ion; behavioral response to cocaine; negative regulation of blood pressure; response to ethanol; response to drug; neurotransmitter catabolic process; response to nicotine; gamma-aminobutyric acid catabolic process; locomotory behavior; copulation; behavior; neurotransmitter secretion; response to hypoxia; synaptic transmission | 16p13.2 |
| ABCA1 | endosome transport; positive regulation of cAMP biosynthetic process; intracellular cholesterol transport; Cdc42 protein signal transduction; cholesterol efflux; phospholipid efflux; high-density lipoprotein particle assembly; cellular response to retinoic acid; response to laminar fluid shear stress; apolipoprotein A-I-mediated signaling pathway; lipoprotein metabolic process; cholesterol homeostasis; cellular response to lipopolysaccharide; platelet dense granule organization; response to low-density lipoprotein particle stimulus; phospholipid homeostasis; interleukin-1 beta secretion; phospholipid translocation; anion transport; small molecule metabolic process; cellular lipid metabolic process; reverse cholesterol transport; positive regulation of cholesterol efflux; peptide secretion; protein lipidation; lipid metabolic process; transport; phagocytosis, engulfment; G-protein coupled receptor signaling pathway; steroid metabolic process; cholesterol metabolic process; negative regulation of macrophage der | 9q31.1 |
| ABCA10 | transport | 17q24 |
| ABCA11P | - | 4p16.3 |
| ABCA12 | cellular homeostasis; lipid transport; transport | 2q34 |
| ABCA13 | transport | 7p12.3 |
| ABCA17P | - | 16p13.3 |
| ABCA2 | ATP catabolic process; regulation of transcription from RNA polymerase II promoter; lipid metabolic process; transport; regulation of intracellular cholesterol transport; response to drug; cholesterol homeostasis; response to steroid hormone stimulus | 9q34 |
| ABCA3 | response to drug; transport; transmembrane transport | 16p13.3 |
| ABCA4 | transmembrane transport; response to stimulus; photoreceptor cell maintenance; phospholipid transfer to membrane; transport; visual perception; phototransduction, visible light | 1p22 |
| ABCA5 | reverse cholesterol transport; transport; high-density lipoprotein particle remodeling; cholesterol efflux; negative regulation of macrophage derived foam cell differentiation | 17q24.3 |
| ABCA6 | transport | 17q24.3 |
| ABCA7 | phagocytosis; phospholipid efflux; transmembrane transport | 19p13.3 |
| ABCA8 | transport; transmembrane transport | 17q24 |
| ABCA9 | transport | 17q24.2 |
| ABCB1 | stem cell proliferation; transmembrane transport; response to drug; transport; G2/M transition of mitotic cell cycle | 7q21.12 |
| ABCB10 | transport; transmembrane transport | 1q42.13 |
| ABCB10P3 | - | 15q13.1 |
| ABCB10P4 | - | 15q13.1 |
| ABCB11 | bile acid metabolic process; transport; bile acid biosynthetic process; transmembrane transport; small molecule metabolic process; canalicular bile acid transport; bile acid and bile salt transport | 2q24 |
| ABCB4 | lipid metabolic process; transport; response to drug; cellular lipid metabolic process; small molecule metabolic process; response to glucocorticoid stimulus; transmembrane transport | 7q21.1 |
| ABCB5 | transmembrane transport; regulation of membrane potential | 7p21.1 |
| ABCB6 | transport; porphyrin-containing compound biosynthetic process; cellular iron ion homeostasis; heme transport; transmembrane transport; cadmium ion transmembrane transport; detoxification of cadmium ion | 2q36 |
| ABCB7 | transmembrane transport; heme transport; transport; cellular iron ion homeostasis | Xq13.3 |
| ABCB8 | transmembrane transport; transport | 7q36 |
| ABCB9 | transmembrane transport; peptide transport; protein transport; antigen processing and presentation of peptide antigen via MHC class I; positive regulation of T cell mediated cytotoxicity | 12q24 |
| ABCC1 | transmembrane transport; small molecule metabolic process; response to drug; leukotriene biosynthetic process; transport; prostanoid metabolic process; ATP catabolic process | 16p13.1 |
| ABCC10 | transmembrane transport | 6p21.1 |
| ABCC11 | transmembrane transport | 16q12.1 |
| ABCC12 | transmembrane transport | 16q12.1 |
| ABCC13 | transmembrane transport | 21q11.2 |
| ABCC2 | transport; organic anion transport; transmembrane transport | 10q24 |
| ABCC3 | transport; bile acid metabolic process; transmembrane transport; small molecule metabolic process; bile acid and bile salt transport; organic anion transport | 17q22 |
| ABCC4 | platelet degranulation; transmembrane transport; platelet activation; blood coagulation; ion transport | 13q32 |
| ABCC5 | transport; transmembrane transport; response to insulin stimulus; response to lipopolysaccharide; organic anion transport | 3q27 |
| ABCC5-AS1 | - | - |
| ABCC6 | transmembrane transport; response to stimulus; response to drug; visual perception; transport | 16p13.1 |
| ABCC6P1 | - | 16p12.3 |
| ABCC8 | carbohydrate metabolic process; potassium ion transmembrane transport; transmembrane transport; regulation of insulin secretion; negative regulation of insulin secretion; small molecule metabolic process; positive regulation of potassium ion transport; response to drug; response to lipopolysaccharide; response to zinc ion; response to pH; synaptic transmission; potassium ion transport; energy reserve metabolic process; response to insulin stimulus | 11p15.1 |
| ABCC9 | transmembrane transport; defense response to virus; potassium ion import; synaptic transmission; potassium ion transport | 12p12.1 |
| ABCD1 | peroxisomal long-chain fatty acid import; peroxisomal membrane transport; fatty acid beta-oxidation using acyl-CoA oxidase; cellular lipid metabolic process; peroxisome organization; small molecule metabolic process; transmembrane transport; ATP catabolic process | Xq28 |
| ABCD1P2 | - | 10p11 |
| ABCD1P3 | - | 16p11 |
| ABCD1P4 | - | 22q11 |
| ABCD1P5 | - | 2p11.1 |
| ABCD2 | transmembrane transport; positive regulation of fatty acid beta-oxidation; very long-chain fatty acid metabolic process | 12q12 |
| ABCD3 | ATP catabolic process; response to drug; transmembrane transport | 1p21.3 |
| ABCD4 | transmembrane transport | 14q24.3 |
| ABCE1 | interspecies interaction between organisms; response to virus; RNA catabolic process | 4q31 |
| ABCF1 | translation; translational initiation; inflammatory response; ribosome biogenesis; positive regulation of translation | 6p21.33 |
| ABCF2 | transport | 7q36 |
| ABCF2P1 | - | 3p11.1 |
| ABCF2P2 | - | - |
| ABCF3 | - | 3q27.1 |
| ABCG1 | glycoprotein transport; cholesterol metabolic process; detection of hormone stimulus; response to organic substance; negative regulation of macrophage derived foam cell differentiation; regulation of cholesterol esterification; positive regulation of cholesterol efflux; negative regulation of cholesterol storage; phospholipid transport; intracellular cholesterol transport; cholesterol efflux; phospholipid efflux; response to lipid; low-density lipoprotein particle remodeling; high-density lipoprotein particle remodeling; lipoprotein metabolic process; cholesterol homeostasis; amyloid precursor protein catabolic process; reverse cholesterol transport; small molecule metabolic process; positive regulation of cholesterol biosynthetic process; transmembrane transport; phospholipid homeostasis; response to high density lipoprotein particle stimulus; lipid metabolic process; regulation of transcription, DNA-dependent | 21q22.3 |
| ABCG2 | cellular iron ion homeostasis; transmembrane transport; heme transport; response to drug; urate metabolic process; transport | 4q22 |
| ABCG4 | cholesterol efflux; transmembrane transport | 11q23.3 |
| ABCG5 | cholesterol efflux; intestinal cholesterol absorption; response to drug; cholesterol homeostasis; excretion; response to nutrient; lipid metabolic process; ATP catabolic process; sterol transport; negative regulation of intestinal phytosterol absorption; response to ionizing radiation; transmembrane transport; small molecule metabolic process; negative regulation of intestinal cholesterol absorption | 2p21 |
| ABCG8 | ATP catabolic process; lipid metabolic process; transmembrane transport; negative regulation of intestinal cholesterol absorption; small molecule metabolic process; cholesterol homeostasis; cholesterol efflux; intestinal cholesterol absorption; sterol transport; phospholipid transport; negative regulation of intestinal phytosterol absorption; excretion | 2p21 |
| ABHD1 | - | 2p23.3 |
| ABHD10 | proteolysis | 3q13.2 |
| ABHD11 | - | 7q11.23 |
| ABHD11-AS1 | - | 7q11.23 |
| ABHD12 | - | 20p11.21 |
| ABHD12B | - | 14q22.1 |
| ABHD13 | - | 13q33.3 |
| ABHD14A | - | 3p21.1 |
| ABHD14B | - | 3p21.2 |
| ABHD15 | - | 17q11.2 |
| ABHD16A | - | 6p21.3 |
| ABHD16B | - | 20q13.33 |
| ABHD17A | - | 19p13.3 |
| ABHD17AP3 | - | 1q41 |
| ABHD17AP4 | - | 22q11.21 |
| ABHD17AP5 | - | 22q11.22 |
| ABHD17AP6 | - | 17p11.2 |
| ABHD17B | - | 9q21.13 |
| ABHD17C | - | 15q25.1 |
| ABHD18 | - | 4q28.2 |
| ABHD2 | response to wounding; negative regulation of cell migration | 15q26.1 |
| ABHD3 | - | 18q11.2 |
| ABHD4 | lipid catabolic process | 14q11.2 |
| ABHD5 | lipid metabolic process; phospholipid biosynthetic process; positive regulation of lipoprotein lipase activity; small molecule metabolic process; cell differentiation; triglyceride catabolic process; positive regulation of triglyceride catabolic process; negative regulation of sequestering of triglyceride; phosphatidic acid biosynthetic process; fatty acid metabolic process | 3p21 |
| ABHD6 | regulation of endocannabinoid signaling pathway; long term synaptic depression; negative regulation of cell migration | 3p14.3 |
| ABHD8 | - | 19p13.11 |
| ABI1 | negative regulation of cell proliferation; actin polymerization or depolymerization; cellular component movement; somitogenesis; peptidyl-tyrosine phosphorylation; transmembrane receptor protein tyrosine kinase signaling pathway | 10p11.2 |
| ABI2 | peptidyl-tyrosine phosphorylation; cellular component movement; cytoskeleton organization; actin polymerization or depolymerization; cell migration | 2q33 |
| ABI3 | peptidyl-tyrosine phosphorylation; regulation of cell migration; cellular component movement | 17q21.3 |
| ABI3BP | extracellular matrix organization; positive regulation of cell-substrate adhesion | 3q12 |
| ABL1 | regulation of transcription, DNA-dependent; regulation of transcription involved in S phase of mitotic cell cycle; regulation of response to DNA damage stimulus; regulation of actin cytoskeleton reorganization; regulation of cell motility; negative regulation of protein serine/threonine kinase activity; positive regulation of oxidoreductase activity; positive regulation of muscle cell differentiation; positive regulation of apoptotic process; signal transduction in response to DNA damage; muscle cell differentiation; regulation of cell adhesion; regulation of endocytosis; actin cytoskeleton organization; peptidyl-tyrosine phosphorylation; regulation of autophagy; DNA damage response, signal transduction resulting in induction of apoptosis; blood coagulation; axon guidance; DNA damage induced protein phosphorylation; protein modification process; mismatch repair | 9q34.1 |
| ABL2 | regulation of actin cytoskeleton reorganization; regulation of cell motility; cellular response to retinoic acid; regulation of cell adhesion; protein modification process; protein phosphorylation; signal transduction; axon guidance; positive regulation of oxidoreductase activity; regulation of autophagy; positive regulation of neuron projection development; peptidyl-tyrosine phosphorylation; regulation of endocytosis | 1q25.2 |
| ABLIM1 | cytoskeleton organization; axon guidance; visual perception; organ morphogenesis; positive regulation of transcription from RNA polymerase II promoter | 10q25 |
| ABLIM2 | cytoskeleton organization; axon guidance | 4p16.1 |
| ABLIM3 | positive regulation of transcription from RNA polymerase II promoter; axon guidance; cytoskeleton organization | 5q32 |
| ABO | protein glycosylation; carbohydrate metabolic process | 9q34.2 |
| ABR | negative regulation of inflammatory response; regulation of small GTPase mediated signal transduction; neuromuscular process controlling balance; positive regulation of phagocytosis; nerve growth factor receptor signaling pathway; positive regulation of GTPase activity; negative regulation of neutrophil degranulation; inner ear morphogenesis; regulation of Rho protein signal transduction; apoptotic process; small GTPase mediated signal transduction; brain development; induction of apoptosis by extracellular signals; response to lipopolysaccharide; negative regulation of cell migration; actin cytoskeleton organization | 17p13.3 |
| ABRACL | - | 6q24.1 |
| ABT1 | regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; spinal cord motor neuron differentiation | 6p22.2 |
| ABTB1 | - | 3q21 |
| ABTB2 | regulation of cell growth | 11p13 |
| ACAA1 | small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; fatty acid metabolic process | 3p22.2 |
| ACAA2 | anti-apoptosis; cholesterol biosynthetic process; fatty acid beta-oxidation; fatty acid metabolic process; lipid metabolic process; acetyl-CoA metabolic process | 18q21.1 |
| ACACA | small molecule metabolic process; protein homotetramerization; lipid homeostasis; response to organic cyclic compound; cellular lipid metabolic process; response to drug; long-chain fatty-acyl-CoA biosynthetic process; tissue homeostasis; acetyl-CoA metabolic process; energy reserve metabolic process; fatty acid biosynthetic process; triglyceride biosynthetic process; positive regulation of cellular metabolic process; multicellular organismal protein metabolic process | 17q21 |
| ACACB | protein homotetramerization; regulation of fatty acid oxidation; small molecule metabolic process; cellular lipid metabolic process; positive regulation of cellular metabolic process; carnitine shuttle; fatty acid biosynthetic process; energy reserve metabolic process; acetyl-CoA metabolic process | 12q24.11 |
| ACAD10 | - | 12q24.12 |
| ACAD11 | fatty acid beta-oxidation using acyl-CoA dehydrogenase | 3q22.1 |
| ACAD8 | small molecule metabolic process; cellular nitrogen compound metabolic process; branched chain family amino acid catabolic process; lipid metabolic process; regulation of transcription, DNA-dependent | 11q25 |
| ACAD9 | - | 3q21.3 |
| ACADL | temperature homeostasis; regulation of cholesterol metabolic process; oxidation-reduction process; protein homotetramerization; negative regulation of fatty acid oxidation; small molecule metabolic process; negative regulation of fatty acid biosynthetic process; fatty acid metabolic process; fatty acid beta-oxidation; carnitine metabolic process, CoA-linked; fatty acid beta-oxidation using acyl-CoA dehydrogenase; carnitine catabolic process; long-chain fatty acid catabolic process; cellular lipid metabolic process; cellular lipid catabolic process | 2q34 |
| ACADM | carnitine biosynthetic process; medium-chain fatty acid metabolic process; medium-chain fatty acid catabolic process; oxidation-reduction process; fatty acid beta-oxidation; carnitine metabolic process, CoA-linked; fatty acid beta-oxidation using acyl-CoA dehydrogenase; small molecule metabolic process; cellular lipid metabolic process | 1p31 |
| ACADS | small molecule metabolic process; response to glucocorticoid stimulus; protein homotetramerization; butyrate catabolic process; cellular lipid metabolic process; response to starvation; fatty acid beta-oxidation using acyl-CoA dehydrogenase; fatty acid beta-oxidation; fatty acid metabolic process | 12q24.31 |
| ACADSB | cellular nitrogen compound metabolic process; lipid metabolic process; fatty acid metabolic process; acyl-CoA metabolic process; branched chain family amino acid catabolic process; small molecule metabolic process | 10q26.13 |
| ACADVL | fatty acid beta-oxidation; temperature homeostasis; regulation of cholesterol metabolic process; negative regulation of fatty acid oxidation; negative regulation of fatty acid biosynthetic process; small molecule metabolic process; cellular lipid metabolic process; very long-chain fatty acid catabolic process; fatty acid beta-oxidation using acyl-CoA dehydrogenase; endoplasmic reticulum unfolded protein response; energy derivation by oxidation of organic compounds; activation of signaling protein activity involved in unfolded protein response; fatty acid metabolic process | 17p13.1 |
| ACAN | cell adhesion; proteolysis; skeletal system development | 15q26.1 |
| ACAP1 | lipid metabolic process; protein transport; regulation of ARF GTPase activity; intracellular signal transduction | 17p13.1 |
| ACAP2 | regulation of ARF GTPase activity | 3q29 |
| ACAP2-IT1 | - | - |
| ACAP3 | filopodium assembly; regulation of ARF GTPase activity; signal transduction | - |
| ACAT1 | cellular lipid metabolic process; metanephric proximal convoluted tubule development; adipose tissue development; ketone body catabolic process; protein homooligomerization; brain development; branched chain family amino acid catabolic process; response to hormone stimulus; response to organic cyclic compound; cellular nitrogen compound metabolic process; liver development; response to starvation; small molecule metabolic process; cellular ketone body metabolic process; ketone body biosynthetic process | 11q22.3 |
| ACAT2 | lipid metabolic process | 6q25.3 |
| ACBD3 | transport; steroid biosynthetic process | 1q42.12 |
| ACBD4 | - | 17q21.31 |
| ACBD5 | transport | 10p12.1 |
| ACBD6 | - | 1q25.1 |
| ACBD7 | - | 10p13 |
| ACCS | biosynthetic process | 11p11 |
| ACCSL | biosynthetic process | 11p11.2 |
| ACD | telomere capping; skeletal system development; protein localization to chromosome, telomeric region; positive regulation of single-stranded telomeric DNA binding; positive regulation of telomerase activity; segmentation; negative regulation of telomere maintenance via telomerase; telomere assembly; protection from non-homologous end joining at telomere; embryonic limb morphogenesis; telomere maintenance; intracellular protein transport; urogenital system development | 16q22.1 |
| ACE | regulation of blood pressure; heart contraction; positive regulation of neurogenesis; positive regulation of inflammatory response; arachidonic acid secretion; peptide catabolic process; positive regulation of apoptotic process; eating behavior; hormone catabolic process; regulation of vasodilation; mononuclear cell proliferation; response to lipopolysaccharide; response to nutrient levels; sensory perception of pain; regulation of vasoconstriction; regulation of smooth muscle cell migration; proteolysis; regulation of systemic arterial blood pressure by renin-angiotensin; neutrophil mediated immunity; regulation of renal output by angiotensin; angiotensin catabolic process in blood; blood vessel remodeling; kidney development; response to hypoxia; hemopoietic stem cell differentiation | 17q23.3 |
| ACE2 | regulation of cytokine production; angiotensin catabolic process in blood; angiotensin-mediated drinking behavior; regulation of systemic arterial blood pressure by renin-angiotensin; proteolysis; response to virus; regulation of vasoconstriction; receptor biosynthetic process; regulation of cell proliferation; regulation of vasodilation; interspecies interaction between organisms; entry of virus into host cell; virion attachment, binding of host cell surface receptor; regulation of inflammatory response; positive regulation of reactive oxygen species metabolic process | Xp22 |
| ACE3P | - | 17q23.3 |
| ACER1 | ceramide catabolic process; small molecule metabolic process; sphingolipid biosynthetic process; sphingolipid metabolic process; regulation of lipid metabolic process | 19p13.3 |
| ACER2 | negative regulation of protein glycosylation in Golgi; sphingolipid biosynthetic process; response to retinoic acid; negative regulation of cell adhesion mediated by integrin; small molecule metabolic process; positive regulation of cell proliferation; ceramide metabolic process; sphingosine biosynthetic process; negative regulation of cell-matrix adhesion; lipid metabolic process; sphingolipid metabolic process | 9p22.1 |
| ACER3 | small molecule metabolic process; sphingolipid biosynthetic process; positive regulation of cell proliferation; ceramide metabolic process; sphingosine biosynthetic process; phytosphingosine biosynthetic process; sphingolipid metabolic process | 11q13.5 |
| ACHE | response to wounding; choline metabolic process; receptor internalization; negative regulation of synaptic transmission, cholinergic; synaptic transmission; neurotransmitter biosynthetic process; amyloid precursor protein metabolic process; neurotransmitter receptor biosynthetic process; regulation of dendrite morphogenesis; positive regulation of protein secretion; regulation of axonogenesis; protein tetramerization; retina development in camera-type eye; muscle organ development; acetylcholine catabolic process in synaptic cleft; regulation of receptor recycling; osteoblast development; DNA replication; acetylcholine catabolic process; cell adhesion; synaptic transmission, cholinergic; nervous system development; synapse assembly; cell proliferation | 7q22 |
| ACIN1 | positive regulation of monocyte differentiation; apoptotic chromosome condensation; erythrocyte differentiation; cellular component disassembly involved in apoptosis; apoptotic process; ATP catabolic process | 14q11.2 |
| ACKR1 | defense response; G-protein coupled receptor signaling pathway | 1q21-q22 |
| ACKR2 | - | 3p21.3 |
| ACKR3 | - | 2q37.3 |
| ACKR4 | - | 3q22 |
| ACLY | cellular carbohydrate metabolic process; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; positive regulation of cellular metabolic process; triglyceride biosynthetic process; lipid biosynthetic process; ATP catabolic process; energy reserve metabolic process; citrate metabolic process; coenzyme A metabolic process | 17q21.2 |
| ACMSD | small molecule metabolic process; tryptophan catabolic process; cellular nitrogen compound metabolic process; quinolinate metabolic process | 2q21.3 |
| ACO1 | response to iron(II) ion; intestinal absorption; regulation of gene expression; post-embryonic development; metabolic process; regulation of translation; citrate metabolic process; cellular iron ion homeostasis; tricarboxylic acid cycle | 9p21.1 |
| ACO2 | citrate metabolic process; tricarboxylic acid cycle; generation of precursor metabolites and energy; isocitrate metabolic process; small molecule metabolic process | 22q13.2 |
| ACOT1 | acyl-CoA metabolic process; lipid metabolic process; long-chain fatty acid metabolic process; very long-chain fatty acid metabolic process | 14q24.3 |
| ACOT11 | intracellular signal transduction; response to cold; response to temperature stimulus; fatty acid metabolic process | 1p32.3 |
| ACOT12 | acyl-CoA metabolic process; fatty acid metabolic process; lipid metabolic process; acetyl-CoA metabolic process | 5q14.1 |
| ACOT13 | protein homotetramerization | 6p22.3 |
| ACOT2 | very long-chain fatty acid metabolic process; long-chain fatty acid metabolic process; lipid metabolic process; acyl-CoA metabolic process | 14q24.3 |
| ACOT4 | dicarboxylic acid metabolic process; unsaturated monocarboxylic acid metabolic process; very long-chain fatty acid metabolic process; long-chain fatty acid metabolic process; short-chain fatty acid metabolic process; succinyl-CoA metabolic process; lipid metabolic process; acyl-CoA metabolic process; butyrate metabolic process; saturated monocarboxylic acid metabolic process | 14q24.3 |
| ACOT6 | - | 14q24.3 |
| ACOT7 | lipid metabolic process | 1p36 |
| ACOT8 | acyl-CoA metabolic process; interspecies interaction between organisms; small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; bile acid metabolic process; peroxisome organization; bile acid biosynthetic process | 20q13.12 |
| ACOT9 | acyl-CoA metabolic process | Xp22.11 |
| ACOX1 | generation of precursor metabolites and energy; very long-chain fatty acid metabolic process; lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; prostaglandin metabolic process; spermatogenesis; fatty acid oxidation; cellular lipid metabolic process; small molecule metabolic process | 17q25.1 |
| ACOX2 | fatty acid metabolic process; bile acid biosynthetic process; bile acid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; cellular lipid metabolic process; small molecule metabolic process | 3p14.3 |
| ACOX3 | small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; fatty acid metabolic process | 4p15.3 |
| ACOXL | fatty acid beta-oxidation | 2q13 |
| ACP1 | - | 2p25 |
| ACP2 | skeletal system development; lysosome organization; response to organic substance; dephosphorylation; autophagic cell death | 11p11.2|11p12-p11 |
| ACP5 | negative regulation of interleukin-1 beta production; response to lipopolysaccharide; negative regulation of tumor necrosis factor production; dephosphorylation; negative regulation of interleukin-12 production; negative regulation of superoxide anion generation; response to cytokine stimulus; small molecule metabolic process; negative regulation of nitric oxide biosynthetic process; bone resorption; negative regulation of inflammatory response; defense response to Gram-positive bacterium; bone morphogenesis; water-soluble vitamin metabolic process; riboflavin metabolic process; vitamin metabolic process | 19p13.2 |
| ACP6 | lipid metabolic process | 1q21 |
| ACP7 | - | 19q13.2 |
| ACPP | - | 3q22.1 |
| ACPT | - | 19q13.4 |
| ACR | response to steroid hormone stimulus; response to biotic stimulus; penetration of zona pellucida; acrosome reaction; single fertilization; activation of adenylate cyclase activity; proteolysis; acrosome matrix dispersal | 22q13.33 |
| ACRBP | - | 12p13.31 |
| ACRC | - | Xq13.1 |
| ACSBG1 | myelination; lipid metabolic process; response to glucocorticoid stimulus; very long-chain fatty acid metabolic process; long-chain fatty acid metabolic process; ovarian follicle atresia | 15q23-q24 |
| ACSBG2 | multicellular organismal development; cell differentiation; spermatogenesis; lipid metabolic process; fatty acid metabolic process | 19p13.3 |
| ACSF2 | lipid metabolic process; fatty acid metabolic process | 17q21.33 |
| ACSF3 | fatty acid biosynthetic process; lipid metabolic process; fatty acid metabolic process; malonate catabolic process | 16q24.3 |
| ACSL1 | fatty acid metabolic process; triglyceride biosynthetic process; long-chain fatty-acyl-CoA biosynthetic process; cellular lipid metabolic process; small molecule metabolic process; regulation of fatty acid oxidation | 4q35 |
| ACSL3 | brain development; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process; response to organic cyclic compound; response to nutrient; fatty acid biosynthetic process | 2q34-q35 |
| ACSL4 | positive regulation of cell growth; response to interleukin-15; dendritic spine development; embryonic process involved in female pregnancy; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process; response to nutrient; fatty acid metabolic process; lipid metabolic process | Xq22.3-q23 |
| ACSL5 | cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; cellular response to insulin stimulus; triglyceride biosynthetic process; response to sucrose stimulus; fatty acid transport; positive regulation of triglyceride biosynthetic process; positive regulation of plasma membrane long-chain fatty acid transport; response to glucose stimulus; small molecule metabolic process; response to cholesterol; response to nutrient; fatty acid metabolic process | 10q25.1-q25.2 |
| ACSL6 | acyl-CoA metabolic process; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process; neuroblast proliferation; fatty acid metabolic process | 5q31 |
| ACSM1 | butyrate metabolic process; small molecule metabolic process; fatty acid oxidation; benzoate metabolic process; energy derivation by oxidation of organic compounds; xenobiotic metabolic process; fatty acid biosynthetic process; lipid metabolic process | 16p12.3 |
| ACSM2B | small molecule metabolic process; lipid metabolic process; fatty acid metabolic process; xenobiotic metabolic process | 16p12.3 |
| ACSM3 | lipid metabolic process; regulation of blood pressure; fatty acid biosynthetic process | 16p13.11 |
| ACSM5 | fatty acid metabolic process; lipid metabolic process | 16p12.3 |
| ACSM6 | lipid metabolic process; fatty acid metabolic process | 10q23.33 |
| ACSS1 | propionate biosynthetic process; acetate biosynthetic process; xenobiotic metabolic process; acetyl-CoA biosynthetic process; ethanol oxidation; small molecule metabolic process | 20p11.23-p11.21 |
| ACSS2 | small molecule metabolic process; lipid biosynthetic process; xenobiotic metabolic process; acetyl-CoA biosynthetic process; ethanol oxidation | 20q11.22 |
| ACSS3 | - | 12q21.31 |
| ACTA1 | muscle contraction; response to mechanical stimulus; response to extracellular stimulus; response to lithium ion; cell growth; muscle filament sliding; skeletal muscle thin filament assembly; skeletal muscle fiber adaptation; response to steroid hormone stimulus; skeletal muscle fiber development | 1q42.13 |
| ACTA2 | vascular smooth muscle contraction; glomerular mesangial cell development; response to virus; muscle contraction; regulation of blood pressure | 10q23.3 |
| ACTA2-AS1 | - | 10q23.31 |
| ACTB | cellular protein metabolic process; response to calcium ion; 'de novo' posttranslational protein folding; cell-cell junction organization; adherens junction organization; cell junction assembly; blood coagulation; axon guidance; cellular component movement; protein folding | 7p22 |
| ACTBL2 | - | 5q11.2 |
| ACTBP1 | - | Xp11.3 |
| ACTBP11 | - | 1q41 |
| ACTBP13 | - | 3p21.31 |
| ACTBP14 | - | 10q22.1 |
| ACTBP2 | - | 5q14.1 |
| ACTBP7 | - | 15q15.3 |
| ACTBP8 | - | 6q15 |
| ACTBP9 | - | 18q21.33 |
| ACTC1 | apoptotic process; heart contraction; cardiac muscle tissue morphogenesis; cardiac muscle contraction; cardiac myofibril assembly; response to ethanol; response to drug; actin-myosin filament sliding; actomyosin structure organization; skeletal muscle thin filament assembly; muscle filament sliding; actin filament-based movement; ATP catabolic process | 15q14 |
| ACTG1 | cell-cell junction organization; response to calcium ion; sarcomere organization; adherens junction organization; cell junction assembly; axon guidance; cellular component movement; blood coagulation | 17q25 |
| ACTG1P1 | - | 3q23 |
| ACTG1P10 | - | Xp11.22 |
| ACTG1P12 | - | - |
| ACTG1P17 | - | 15q25.2 |
| ACTG1P20 | - | 1p36.11 |
| ACTG1P3 | - | 20p13 |
| ACTG1P9 | - | 6p12.3 |
| ACTG2 | muscle contraction | 2p13.1 |
| ACTL10 | - | 20q11.22 |
| ACTL6A | regulation of transcription from RNA polymerase II promoter; chromatin remodeling; DNA recombination; DNA repair; neural retina development; signal transduction; nervous system development; regulation of growth; histone H4 acetylation; histone H2A acetylation | 3q26.33 |
| ACTL6B | nervous system development; chromatin organization; chromatin remodeling; regulation of transcription from RNA polymerase II promoter | 7q22 |
| ACTL7B | - | 9q31 |
| ACTL8 | - | 1p36.2-p35 |
| ACTL9 | - | 19p13.2 |
| ACTN1 | platelet degranulation; blood coagulation; platelet activation; regulation of apoptotic process; focal adhesion assembly; actin filament bundle assembly; negative regulation of cellular component movement; cell junction assembly | 14q24|14q22-q24 |
| ACTN1-AS1 | - | 14q24.1 |
| ACTN2 | protein homotetramerization; focal adhesion assembly; regulation of apoptotic process; platelet activation; muscle filament sliding; microspike assembly; blood coagulation; synaptic transmission; cell adhesion; platelet degranulation | 1q42-q43 |
| ACTN3 | focal adhesion assembly; regulation of apoptotic process; muscle filament sliding | 11q13.1 |
| ACTN4 | negative regulation of cellular component movement; response to hypoxia; positive regulation of cellular component movement; actin filament bundle assembly; positive regulation of pinocytosis; regulation of apoptotic process; positive regulation of sodium:hydrogen antiporter activity; platelet activation; protein transport; blood coagulation; platelet degranulation | 19q13 |
| ACTN4P1 | - | 4q26 |
| ACTN4P2 | - | 1p34.3 |
| ACTR10 | microtubule-based movement | 14q23.1 |
| ACTR1A | vesicle-mediated transport; G2/M transition of mitotic cell cycle; mitotic cell cycle | 10q24.32 |
| ACTR1B | - | 2q11.1-q11.2 |
| ACTR2 | cellular component movement | 2p14 |
| ACTR3 | response to carbohydrate stimulus; positive regulation of filopodium assembly; cilium morphogenesis; positive regulation of lamellipodium assembly; cell projection organization; positive regulation of actin filament polymerization; regulation of myosin II filament organization; positive regulation of neuron differentiation; response to antibiotic; positive regulation of dendrite morphogenesis; cellular component movement | 2q14.1 |
| ACTR3B | regulation of actin filament polymerization | 7q36.1 |
| ACTR3BP2 | - | 2p11.1 |
| ACTR3BP4 | - | 4q24 |
| ACTR3BP6 | - | 22q11.1 |
| ACTR3C | regulation of actin filament polymerization | 7q36.1 |
| ACTR3P2 | - | Xq13.1 |
| ACTR5 | UV-damage excision repair; regulation of transcription, DNA-dependent; DNA recombination; double-strand break repair | 20q11.23 |
| ACTR6 | - | 12q23.1 |
| ACTR8 | regulation of transcription, DNA-dependent; DNA repair; cell division; DNA recombination; cell cycle; mitosis | - |
| ACTRT3 | - | 3q26.2 |
| ACVR1 | cellular response to glucocorticoid stimulus; heart development; embryo development; negative regulation of signal transduction; regulation of ossification; positive regulation of bone mineralization; BMP signaling pathway; negative regulation of activin receptor signaling pathway; negative regulation of apoptotic process; positive regulation of osteoblast differentiation; positive regulation of transcription, DNA-dependent; regulation of skeletal muscle tissue development; smooth muscle cell differentiation; pharyngeal system development; patterning of blood vessels; determination of left/right symmetry; mesoderm development; G1/S transition of mitotic cell cycle; urogenital system development; in utero embryonic development; gastrulation with mouth forming second; mesoderm formation; neural crest cell migration; acute inflammatory response; protein phosphorylation; transmembrane receptor protein serine/threonine kinase signaling pathway; transforming growth factor beta receptor signaling pathway; germ cell | 2q23-q24 |
| ACVR1B | protein autophosphorylation; positive regulation of erythrocyte differentiation; positive regulation of activin receptor signaling pathway; activin receptor signaling pathway; negative regulation of cell growth; induction of apoptosis; peptidyl-threonine phosphorylation; signal transduction; protein phosphorylation; regulation of transcription, DNA-dependent; G1/S transition of mitotic cell cycle; transmembrane receptor protein serine/threonine kinase signaling pathway | 12q13 |
| ACVR1C | cell differentiation; response to insulin stimulus; lipid storage; response to glucose stimulus; regulation of apoptotic process; negative regulation of insulin secretion; response to dietary excess; protein phosphorylation | 2q24.1 |
| ACVR2A | regulation of BMP signaling pathway; activin receptor signaling pathway; positive regulation of activin receptor signaling pathway; sperm ejaculation; penile erection; positive regulation of erythrocyte differentiation; positive regulation of osteoblast differentiation; positive regulation of follicle-stimulating hormone secretion; embryonic skeletal system development; regulation of nitric-oxide synthase activity; anterior/posterior pattern specification; Sertoli cell proliferation; positive regulation of bone mineralization; response to organic substance; BMP signaling pathway; mesoderm development; determination of left/right symmetry; spermatogenesis; transmembrane receptor protein serine/threonine kinase signaling pathway; positive regulation of protein phosphorylation; gastrulation with mouth forming second | 2q22.3 |
| ACVR2B | insulin secretion; lung development; positive regulation of bone mineralization; BMP signaling pathway; pancreas development; activation of protein kinase activity; positive regulation of activin receptor signaling pathway; organ growth; odontogenesis of dentin-containing tooth; positive regulation of osteoblast differentiation; embryonic foregut morphogenesis; skeletal system morphogenesis; palate development; post-embryonic development; gastrulation with mouth forming second; kidney development; regulation of transcription, DNA-dependent; signal transduction; transmembrane receptor protein serine/threonine kinase signaling pathway; determination of left/right symmetry; pattern specification process; mesoderm development; heart development; response to glucose stimulus; anterior/posterior pattern specification | 3p22 |
| ACVR2B-AS1 | - | 3p22.2 |
| ACVRL1 | blood circulation; regulation of blood pressure; negative regulation of cell proliferation; negative regulation of focal adhesion assembly; negative regulation of endothelial cell migration; negative regulation of cell growth; negative regulation of cell migration; positive regulation of BMP signaling pathway; wound healing, spreading of epidermal cells; regulation of blood vessel endothelial cell migration; negative regulation of endothelial cell differentiation; positive regulation of endothelial cell differentiation; positive regulation of transcription, DNA-dependent; protein heterooligomerization; protein phosphorylation; transmembrane receptor protein serine/threonine kinase signaling pathway; signal transduction; negative regulation of cell adhesion; regulation of transcription, DNA-dependent; regulation of DNA replication; blood vessel endothelial cell proliferation involved in sprouting angiogenesis; blood vessel maturation; positive regulation of endothelial cell proliferation; negative regulation o | 12q13.13 |
| ACY1 | proteolysis; metabolic process; cellular amino acid metabolic process | 3p21.1 |
| ACY3 | metabolic process; interspecies interaction between organisms | 11q13.2 |
| ACYP1 | phosphate-containing compound metabolic process | 14q24.3 |
| ACYP2 | phosphate-containing compound metabolic process | 2p16.2 |
| ADA | negative regulation of circadian sleep/wake cycle, non-REM sleep; response to hydrogen peroxide; negative regulation of apoptotic process; purine-containing compound salvage; hypoxanthine salvage; response to morphine; small molecule metabolic process; regulation of circadian sleep/wake cycle, sleep; positive regulation of smooth muscle contraction; dATP catabolic process; inosine biosynthetic process; xanthine biosynthetic process; positive regulation of alpha-beta T cell differentiation; lung alveolus development; Peyer's patch development; embryonic digestive tract development; negative regulation of inflammatory response; positive regulation of calcium-mediated signaling; positive regulation of T cell receptor signaling pathway; nucleobase-containing small molecule metabolic process; negative regulation of adenosine receptor signaling pathway; negative regulation of penile erection; negative regulation of thymocyte apoptosis; negative regulation of mucus secretion; regulation of cell-cell adhesion mediate | 20q13.12 |
| ADAD1 | cell differentiation; spermatid development; spermatogenesis; multicellular organismal development; RNA processing | 4q27 |
| ADAD2 | RNA processing | 16q24.1 |
| ADAL | nucleotide metabolic process; inosine biosynthetic process; hypoxanthine salvage; purine ribonucleoside monophosphate biosynthetic process; adenosine catabolic process | 15q15.3 |
| ADAM10 | in utero embryonic development; protein phosphorylation; proteolysis; membrane protein ectodomain proteolysis; negative regulation of cell adhesion; epidermal growth factor receptor signaling pathway; Notch signaling pathway; integrin-mediated signaling pathway; cell-cell signaling; positive regulation of cell proliferation; positive regulation of T cell chemotaxis; positive regulation of cell growth; positive regulation of cell migration; response to tumor necrosis factor; monocyte activation; PMA-inducible membrane protein ectodomain proteolysis; constitutive protein ectodomain proteolysis; Notch receptor processing | 15q22 |
| ADAM11 | proteolysis; integrin-mediated signaling pathway | 17q21.3 |
| ADAM12 | myoblast fusion; epidermal growth factor receptor signaling pathway; cell adhesion; proteolysis | 10q26.3 |
| ADAM15 | cardiac epithelial to mesenchymal transition; angiogenesis; proteolysis; cell adhesion; cell-matrix adhesion; collagen catabolic process; tissue regeneration | 1q21.3 |
| ADAM17 | T cell differentiation in thymus; regulation of mast cell apoptosis; positive regulation of chemokine production; negative regulation of interleukin-8 production; response to lipopolysaccharide; positive regulation of cyclin-dependent protein kinase activity involved in G1/S; membrane protein intracellular domain proteolysis; positive regulation of transforming growth factor beta receptor signaling pathway; positive regulation of cell migration; PMA-inducible membrane protein ectodomain proteolysis; positive regulation of cell growth; cell adhesion mediated by integrin; wound healing, spreading of epidermal cells; epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway; response to drug; positive regulation of epidermal growth factor-activated receptor activity; nerve growth factor receptor signaling pathway; spleen development; cell motility; positive regulation of cellular component movement; response to high density lipoprotein particle stimulus; JAK-STAT | 2p25 |
| ADAM18 | cell differentiation; proteolysis; spermatogenesis; multicellular organismal development | 8p11.22 |
| ADAM19 | proteolysis | 5q33.3 |
| ADAM1A | - | 12q24.13 |
| ADAM2 | proteolysis; cell adhesion; fusion of sperm to egg plasma membrane; visual learning; adult behavior | 8p11.2 |
| ADAM20 | single fertilization; proteolysis | 14q24.1 |
| ADAM20P1 | - | 14q24.2 |
| ADAM20P2 | - | - |
| ADAM21 | single fertilization; proteolysis | 14q24.1 |
| ADAM22 | proteolysis; negative regulation of cell adhesion; central nervous system development | 7q21 |
| ADAM23 | central nervous system development; cell adhesion; proteolysis | 2q33 |
| ADAM24P | - | 8p22 |
| ADAM28 | proteolysis; spermatogenesis | 8p21.2 |
| ADAM30 | proteolysis | 1p12 |
| ADAM32 | proteolysis | 8p11.22 |
| ADAM33 | proteolysis; integrin-mediated signaling pathway | 20p13 |
| ADAM3A | - | 8p11.23 |
| ADAM5 | - | 8p11.22 |
| ADAM6 | - | 14q32.33 |
| ADAM7 | proteolysis | 8p21.2 |
| ADAM8 | proteolysis; lymphocyte chemotaxis; cell morphogenesis; angiogenesis; leukocyte migration involved in inflammatory response; positive regulation of acute inflammatory response; positive regulation of leukocyte migration; positive regulation of cellular extravasation; inflammatory response; positive regulation of protein processing; regulation of cell-cell adhesion; positive regulation of cell migration; positive regulation of membrane protein ectodomain proteolysis; positive regulation of protein secretion; positive regulation of T cell differentiation in thymus; positive regulation of NF-kappaB transcription factor activity; positive regulation of protein kinase B signaling cascade; positive regulation of thymocyte apoptosis; cellular response to hypoxia; activation of MAPK activity involved in innate immune response; positive regulation of cell adhesion; positive regulation of bone resorption; negative regulation of neuron apoptosis; positive regulation of tumor necrosis factor (ligand) superfamily member 1 | 10q26.3 |
| ADAM9 | response to calcium ion; transforming growth factor beta receptor signaling pathway; cell-matrix adhesion; integrin-mediated signaling pathway; response to manganese ion; keratinocyte differentiation; cell adhesion; membrane protein ectodomain proteolysis; proteolysis; cell adhesion mediated by integrin; positive regulation of cell adhesion mediated by integrin; cell-cell adhesion mediated by integrin; positive regulation of macrophage fusion; response to tumor necrosis factor; monocyte activation; positive regulation of keratinocyte migration; response to glucocorticoid stimulus; PMA-inducible membrane protein ectodomain proteolysis; positive regulation of membrane protein ectodomain proteolysis; positive regulation of protein secretion; activation of MAPKK activity; response to hydrogen peroxide | 8p11.22 |
| ADAMDEC1 | proteolysis; immune response; negative regulation of cell adhesion | 8p21.2 |
| ADAMTS1 | kidney development; ovulation from ovarian follicle; heart trabecula formation; negative regulation of cell proliferation; integrin-mediated signaling pathway; proteolysis | 21q21.2 |
| ADAMTS10 | proteolysis; integrin-mediated signaling pathway | 19p13.2 |
| ADAMTS12 | proteolysis | 5q35 |
| ADAMTS13 | response to interferon-gamma; response to interleukin-4; peptide catabolic process; response to chemical stimulus; response to tumor necrosis factor; platelet activation; protein processing; glycoprotein metabolic process; metabolic process; proteolysis; cell-matrix adhesion; integrin-mediated signaling pathway | 9q34 |
| ADAMTS14 | proteolysis; collagen catabolic process | 10q21 |
| ADAMTS15 | proteolysis | 11q25 |
| ADAMTS16 | proteolysis | 5p15 |
| ADAMTS17 | proteolysis | 15q24 |
| ADAMTS18 | proteolysis | 16q23 |
| ADAMTS19 | proteolysis | 5q23.3 |
| ADAMTS2 | skin development; collagen catabolic process; lung development; collagen fibril organization; proteolysis; spermatogenesis; metabolic process; protein processing | 5qter |
| ADAMTS20 | negative regulation of apoptotic process; positive regulation of melanocyte differentiation; proteolysis; positive regulation of signal transduction; extracellular matrix organization; regulation of developmental pigmentation | 12q12 |
| ADAMTS3 | collagen catabolic process; collagen fibril organization; protein processing; proteolysis | 4q13.3 |
| ADAMTS4 | proteolysis; skeletal system development | 1q21-q23 |
| ADAMTS5 | proteolysis | 21q21.3 |
| ADAMTS6 | proteolysis | 5q12 |
| ADAMTS7 | proteolysis | 15q24.2 |
| ADAMTS7P1 | - | - |
| ADAMTS8 | negative regulation of cell proliferation; proteolysis | 11q25 |
| ADAMTS9 | positive regulation of melanocyte differentiation; multicellular organismal development; glycoprotein catabolic process; regulation of developmental pigmentation; proteolysis | 3p14.1 |
| ADAMTS9-AS2 | - | - |
| ADAMTSL1 | - | 9p21.3 |
| ADAMTSL2 | negative regulation of transforming growth factor beta receptor signaling pathway | 9q34.2 |
| ADAMTSL3 | - | 15q25.2 |
| ADAMTSL4 | extracellular matrix organization; positive regulation of apoptotic process | 1q21.3 |
| ADAMTSL5 | - | 19p13.3 |
| ADAP1 | cell surface receptor signaling pathway; regulation of ARF GTPase activity; regulation of GTPase activity | 7p22.3 |
| ADAP2 | heart development; positive regulation of GTPase activity; regulation of ARF GTPase activity | 17q11.2 |
| ADAR | gene expression; type I interferon-mediated signaling pathway; negative regulation of apoptotic process; gene silencing by RNA; cytokine-mediated signaling pathway; mRNA modification; base conversion or substitution editing; mRNA processing; adenosine to inosine editing | 1q21.3 |
| ADARB1 | base conversion or substitution editing; mRNA modification; gene expression; RNA processing; adenosine to inosine editing; mRNA processing | 21q22.3 |
| ADARB2 | RNA processing; mRNA processing | 10p15.3 |
| ADARB2-AS1 | - | 10p15.3 |
| ADAT1 | RNA processing; tRNA processing | 16q23.1 |
| ADAT2 | tRNA processing | 6q24.2 |
| ADAT3 | tRNA processing | 19p13.3 |
| ADCK1 | - | 14q24.3 |
| ADCK2 | - | 7q34 |
| ADCK3 | cell death | 1q42.13 |
| ADCK4 | - | 19q13.2 |
| ADCK5 | - | 8q24.3 |
| ADCY1 | long-term memory; cellular response to glucagon stimulus; transmembrane transport; nerve growth factor receptor signaling pathway; small molecule metabolic process; response to drug; intracellular signal transduction; activation of protein kinase A activity; response to lithium ion; fibroblast growth factor receptor signaling pathway; circadian rhythm; axonogenesis; activation of phospholipase C activity; energy reserve metabolic process; cAMP biosynthetic process; GTP catabolic process; water transport; signal transduction; epidermal growth factor receptor signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; synaptic transmission | 7p13-p12 |
| ADCY10 | positive regulation of apoptotic process; intracellular signal transduction; spermatogenesis; cAMP biosynthetic process | 1q24 |
| ADCY10P1 | - | 6p21.1 |
| ADCY2 | activation of protein kinase A activity; transmembrane transport; nerve growth factor receptor signaling pathway; small molecule metabolic process; intracellular signal transduction; cellular response to glucagon stimulus; fibroblast growth factor receptor signaling pathway; synaptic transmission; activation of phospholipase C activity; activation of adenylate cyclase activity by G-protein signaling pathway; epidermal growth factor receptor signaling pathway; signal transduction; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process; inhibition of adenylate cyclase activity by G-protein signaling pathway | 5p15.3 |
| ADCY3 | activation of phospholipase C activity; response to stimulus; synaptic transmission; sensory perception of smell; fibroblast growth factor receptor signaling pathway; activation of protein kinase A activity; intracellular signal transduction; small molecule metabolic process; nerve growth factor receptor signaling pathway; transmembrane transport; cellular response to glucagon stimulus; activation of adenylate cyclase activity by G-protein signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; energy reserve metabolic process; cAMP biosynthetic process; GTP catabolic process; water transport; female meiosis; signal transduction; epidermal growth factor receptor signaling pathway | 2p23.3 |
| ADCY4 | inhibition of adenylate cyclase activity by G-protein signaling pathway; fibroblast growth factor receptor signaling pathway; activation of protein kinase A activity; synaptic transmission; intracellular signal transduction; small molecule metabolic process; nerve growth factor receptor signaling pathway; transmembrane transport; epidermal growth factor receptor signaling pathway; signal transduction; cellular response to glucagon stimulus; water transport; GTP catabolic process; cAMP biosynthetic process; activation of phospholipase C activity; activation of adenylate cyclase activity by G-protein signaling pathway; energy reserve metabolic process; G-protein signaling, coupled to cAMP nucleotide second messenger | 14q12 |
| ADCY5 | cellular response to glucagon stimulus; transmembrane transport; nerve growth factor receptor signaling pathway; small molecule metabolic process; intracellular signal transduction; activation of protein kinase A activity; fibroblast growth factor receptor signaling pathway; synaptic transmission; activation of adenylate cyclase activity by G-protein signaling pathway; activation of phospholipase C activity; inhibition of adenylate cyclase activity by G-protein signaling pathway; epidermal growth factor receptor signaling pathway; signal transduction; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process | 3q21.1 |
| ADCY6 | transmembrane transport; nerve growth factor receptor signaling pathway; cellular response to glucagon stimulus; small molecule metabolic process; intracellular signal transduction; activation of protein kinase A activity; fibroblast growth factor receptor signaling pathway; synaptic transmission; activation of phospholipase C activity; activation of adenylate cyclase activity by G-protein signaling pathway; epidermal growth factor receptor signaling pathway; signal transduction; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process; inhibition of adenylate cyclase activity by G-protein signaling pathway | 12q12-q13 |
| ADCY7 | fibroblast growth factor receptor signaling pathway; synaptic transmission; positive regulation of cAMP biosynthetic process; activation of protein kinase A activity; intracellular signal transduction; small molecule metabolic process; nerve growth factor receptor signaling pathway; transmembrane transport; cellular response to ethanol; cellular response to glucagon stimulus; inhibition of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; epidermal growth factor receptor signaling pathway; signal transduction; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process; activation of phospholipase C activity | 16q12.1 |
| ADCY8 | transmembrane transport; synaptic transmission; learning or memory; fibroblast growth factor receptor signaling pathway; cellular response to glucagon stimulus; cAMP-mediated signaling; activation of protein kinase A activity; intracellular signal transduction; small molecule metabolic process; nerve growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; signal transduction; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process; activation of phospholipase C activity | 8q24 |
| ADCY9 | activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; synaptic transmission; fibroblast growth factor receptor signaling pathway; activation of protein kinase A activity; intracellular signal transduction; small molecule metabolic process; nerve growth factor receptor signaling pathway; transmembrane transport; cellular response to glucagon stimulus; inhibition of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; signal transduction; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process | 16p13.3 |
| ADCYAP1 | negative regulation of cell cycle; nerve growth factor receptor signaling pathway; regulation of G-protein coupled receptor protein signaling pathway; female pregnancy; cell-cell signaling; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; activation of adenylate cyclase activity | 18p11 |
| ADCYAP1R1 | cell differentiation; positive regulation of inositol phosphate biosynthetic process; negative regulation of cell death; nerve growth factor receptor signaling pathway; development of primary female sexual characteristics; response to ethanol; response to drug; multicellular organismal response to stress; response to estradiol stimulus; positive regulation of cAMP biosynthetic process; cAMP-mediated signaling; positive regulation of calcium ion transport into cytosol; spermatogenesis; multicellular organismal development; activation of phospholipase C activity; activation of adenylate cyclase activity; transmembrane receptor protein tyrosine kinase signaling pathway; cell surface receptor signaling pathway | 7p14 |
| ADD1 | endoplasmic reticulum unfolded protein response; actin filament bundle assembly; barbed-end actin filament capping; positive regulation of protein binding; actin cytoskeleton organization; cellular component disassembly involved in apoptosis; apoptotic process; activation of signaling protein activity involved in unfolded protein response | 4p16.3 |
| ADD2 | ion transport; actin cytoskeleton organization; hemopoiesis; positive regulation of protein binding; barbed-end actin filament capping; actin filament bundle assembly | 2p13.3 |
| ADD3 | response to drug | 10q25.2 |
| ADD3-AS1 | - | - |
| ADGB | proteolysis; oxygen transport | 6q24.3 |
| ADGRA1 | G-protein coupled receptor signaling pathway; signal transduction | 10q26 |
| ADGRA2 | regulation of chemotaxis; endothelial cell migration; regulation of angiogenesis; central nervous system development; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; sprouting angiogenesis | 8p11.23 |
| ADGRA3 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 4p15.2 |
| ADGRB1 | signal transduction; negative regulation of angiogenesis; negative regulation of cell proliferation; peripheral nervous system development; axonogenesis; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; cell adhesion | 8q24.3 |
| ADGRB2 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; negative regulation of angiogenesis | 1p35 |
| ADGRB3 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; negative regulation of angiogenesis | 6q12 |
| ADGRD1 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 12q24.33 |
| ADGRE1 | G-protein coupled receptor signaling pathway; cell adhesion; neuropeptide signaling pathway | 19p13.3 |
| ADGRE2 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; cell adhesion | 19p13.1 |
| ADGRE3 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 19p13.1 |
| ADGRE4P | - | 19p13.3 |
| ADGRE5 | cellular component movement; inflammatory response; immune response; cell adhesion; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; cell-cell signaling | 19p13 |
| ADGRF1 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 6p12.3 |
| ADGRF2 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 6p12.3 |
| ADGRF3 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 2p23.3 |
| ADGRF4 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 6p12.3 |
| ADGRF5 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 6p12.3 |
| ADGRG1 | brain development; cell-cell signaling; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; cell adhesion | 16q13 |
| ADGRG2 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; spermatogenesis | Xp22.13 |
| ADGRG3 | neuropeptide signaling pathway | 16q21 |
| ADGRG4 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | Xq26.3 |
| ADGRG5 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 16q21 |
| ADGRG6 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 6q24.1 |
| ADGRG7 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 3q12.2 |
| ADGRL1 | neuropeptide signaling pathway; brain development; G-protein coupled receptor signaling pathway | 19p13.2 |
| ADGRL2 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 1p31.1 |
| ADGRL3 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 4q13.1 |
| ADGRL4 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 1p33-p32 |
| ADGRV1 | maintenance of organ identity; inner ear receptor stereocilium organization; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; nervous system development; sensory perception of sound; cell-cell adhesion; sensory perception of light stimulus; photoreceptor cell maintenance; detection of mechanical stimulus involved in sensory perception of sound; response to stimulus; neurological system process; inner ear development | 5q13 |
| ADH1A | xenobiotic metabolic process; transcription, DNA-dependent; ethanol oxidation; alcohol metabolic process; small molecule metabolic process | 4q23 |
| ADH1B | xenobiotic metabolic process; ethanol oxidation; small molecule metabolic process | 4q23 |
| ADH1C | ethanol oxidation; xenobiotic metabolic process; small molecule metabolic process | 4q23 |
| ADH5 | response to redox state; response to nitrosative stress; formaldehyde catabolic process; positive regulation of blood pressure; retinoid metabolic process; respiratory system process; ethanol catabolic process; ethanol oxidation; aging; peptidyl-cysteine S-nitrosylation; response to lipopolysaccharide | 4q23 |
| ADH5P2 | - | 1p31.1 |
| ADH5P3 | - | 1q43 |
| ADH5P4 | - | 6q12 |
| ADH6 | response to ethanol; small molecule metabolic process; xenobiotic metabolic process; ethanol oxidation | 4q23 |
| ADH7 | oxidation-reduction process; retinoid metabolic process; ethanol oxidation; xenobiotic metabolic process; response to bacterium; negative regulation of signal transduction; fatty acid omega-oxidation; small molecule metabolic process; response to ethanol | 4q23-q24 |
| ADHFE1 | molecular hydrogen transport; 2-oxoglutarate metabolic process; small molecule metabolic process | 8q13.1 |
| ADI1 | L-methionine salvage from methylthioadenosine; oxidation-reduction process; small molecule metabolic process; methionine biosynthetic process; cellular amino acid biosynthetic process; cellular nitrogen compound metabolic process; polyamine metabolic process; sulfur amino acid metabolic process | 2p25.3 |
| ADIG | positive regulation of fat cell differentiation; brown fat cell differentiation; white fat cell differentiation | 20q11.23 |
| ADIPOQ-AS1 | - | - |
| ADIPOR1 | lipid metabolic process; fatty acid oxidation; hormone-mediated signaling pathway | 1q32.1 |
| ADIPOR2 | fatty acid oxidation; hormone-mediated signaling pathway; lipid metabolic process | 12p13.31 |
| ADIRF | - | 10q23.2 |
| ADIRF-AS1 | - | 10q23.2 |
| ADK | purine-containing compound salvage; positive regulation of T cell proliferation; ribonucleoside monophosphate biosynthetic process; dATP biosynthetic process; AMP biosynthetic process; purine ribonucleoside salvage; purine base metabolic process; small molecule metabolic process; adenosine metabolic process; nucleobase-containing small molecule metabolic process | 10q22|10q11-q24 |
| ADM | neuron projection regeneration; receptor internalization; response to lipopolysaccharide; organ regeneration; response to insulin stimulus; negative regulation of cell proliferation; response to cold; response to wounding; response to organic substance; positive regulation of heart rate; cAMP-mediated signaling; positive regulation of cAMP biosynthetic process; odontogenesis of dentin-containing tooth; response to starvation; positive regulation of anti-apoptosis; negative regulation of vasoconstriction; spongiotrophoblast layer development; branching involved in embryonic placenta morphogenesis; calcium ion homeostasis; response to glucocorticoid stimulus; developmental growth; hormone secretion; neural tube closure; positive regulation of vasodilation; androgen metabolic process; positive regulation of cell proliferation; vasculogenesis; response to hypoxia; regulation of the force of heart contraction; G-protein coupled receptor internalization; cAMP biosynthetic process; progesterone biosynthetic process; | 11p15.4 |
| ADM2 | protein phosphorylation; negative regulation of blood pressure; positive regulation of angiogenesis; positive regulation of gene expression; feeding behavior; digestion; activation of adenylate cyclase activity by G-protein signaling pathway; angiogenesis | 22q13.33 |
| ADM5 | - | 19q13.33 |
| ADNP | neuroprotection; nitric oxide homeostasis; estrous cycle phase; positive regulation of synapse assembly; negative regulation of synaptic transmission; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of axon extension; response to carbohydrate stimulus; short-term memory; negative regulation of neuron apoptosis; activation of protein kinase activity; negative regulation of protein binding; cellular response to extracellular stimulus; positive regulation of cGMP biosynthetic process; positive regulation of neuron projection development; regulation of protein ADP-ribosylation; negative regulation of gene expression; response to inorganic substance | 20q13.13 |
| ADNP2 | neuron differentiation; positive regulation of cell growth; cellular response to retinoic acid; negative regulation of cell death; cellular response to oxidative stress | 18q23 |
| ADO | - | 10q21.3 |
| ADORA1 | negative regulation of glutamate secretion; negative regulation of blood pressure; positive regulation of epidermal growth factor-activated receptor activity; positive regulation of blood pressure; positive regulation of potassium ion transport; negative regulation of apoptotic process; negative regulation of circadian sleep/wake cycle, non-REM sleep; negative regulation of renal sodium excretion; positive regulation of protein dephosphorylation; positive regulation of nucleoside transport; negative regulation of synaptic transmission, GABAergic; negative regulation of neurotrophin production; negative regulation of heart contraction; negative regulation of vasodilation; negative regulation of hormone secretion; regulation of synaptic plasticity; cognition; detection of temperature stimulus involved in sensory perception of pain; negative regulation of lipid catabolic process; negative regulation of synaptic transmission, glutamatergic; negative regulation of cardiac muscle contraction; regulation of excitato | 1q32.1 |
| ADORA2A | inflammatory response; cellular defense response; transmembrane receptor protein tyrosine kinase signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of adenylate cyclase activity; cell-cell signaling; central nervous system development; blood coagulation; sensory perception; blood circulation; nerve growth factor receptor signaling pathway; apoptotic process; phagocytosis; cAMP biosynthetic process | 22q11.23 |
| ADORA2B | cellular response to extracellular stimulus; positive regulation of cGMP biosynthetic process; positive regulation of cAMP biosynthetic process; positive regulation of steroid biosynthetic process; positive regulation of norepinephrine secretion; positive regulation vascular endothelial growth factor production; negative regulation of cell proliferation; positive regulation of cell proliferation; positive regulation of guanylate cyclase activity; positive regulation of chemokine production; positive regulation of interleukin-6 production; negative regulation of collagen biosynthetic process; positive regulation of mast cell degranulation; regulation of angiogenesis; positive regulation of vasodilation; relaxation of vascular smooth muscle; JNK cascade; activation of adenylate cyclase activity; activation of adenylate cyclase activity by G-protein signaling pathway; G-protein coupled receptor signaling pathway; cellular defense response; positive regulation of chronic inflammatory response to non-antigenic sti | 17p12 |
| ADORA3 | signal transduction; inflammatory response; activation of adenylate cyclase activity; regulation of heart contraction; response to wounding | 1p13.2 |
| ADPGK | glycolysis; carbohydrate metabolic process | 15q24.1 |
| ADPRH | protein modification process; protein de-ADP-ribosylation | 3q13.31-q13.33 |
| ADPRHL1 | protein de-ADP-ribosylation | 13q34 |
| ADPRHL2 | - | 1p34.3 |
| ADPRM | - | 17p13.1 |
| ADRA1A | cell-cell signaling; elevation of cytosolic calcium ion concentration; aging; intracellular protein kinase cascade; activation of phospholipase C activity; G-protein coupled receptor signaling pathway; signal transduction; response to stress; smooth muscle contraction; apoptotic process; response to hormone stimulus; positive regulation of protein kinase C signaling cascade; positive regulation of ERK1 and ERK2 cascade; positive regulation of cardiac muscle contraction; calcium ion transport into cytosol; positive regulation of vasoconstriction; positive regulation of action potential; response to drug; negative regulation of cell proliferation; negative regulation of Rho protein signal transduction; negative regulation of synaptic transmission, GABAergic | 8p21.2 |
| ADRA1B | G-protein signaling, coupled to cAMP nucleotide second messenger; multicellular organismal development; cell-cell signaling; adult heart development; intracellular protein kinase cascade; blood vessel remodeling; response to amphetamine; vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure; positive regulation of heart rate by epinephrine-norepinephrine; positive regulation of the force of heart contraction by epinephrine-norepinephrine; G-protein coupled receptor signaling pathway; locomotory behavior; cell proliferation; visual learning; cell growth; organ growth; glucose homeostasis; response to morphine; negative regulation of glycogen catabolic process; positive regulation of glycogen catabolic process; behavioral response to cocaine | 5q33.3 |
| ADRA1D | cell proliferation; multicellular organismal development; cell-cell signaling; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein coupled receptor signaling pathway; DNA metabolic process; norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure; negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure; positive regulation of cell proliferation | 20p13 |
| ADRA2A | negative regulation of norepinephrine secretion; intestinal absorption; negative regulation of lipid catabolic process; positive regulation of membrane protein ectodomain proteolysis; negative regulation of calcium ion transport via voltage-gated calcium channel activity; negative regulation of insulin secretion involved in cellular response to glucose stimulus; negative regulation of adrenergic receptor signaling pathway; inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway; activation of phospholipase C activity by adrenergic receptor signaling pathway; activation of MAPK activity by adrenergic receptor signaling pathway; positive regulation of wound healing; actin cytoskeleton organization; small molecule metabolic process; positive regulation of cell proliferation; blood coagulation; Rho protein signal transduction; Ras protein signal transduction; regulation of insulin secretion; negative regulation of insulin secretion; negative regulation of calcium ion-dependent exocytosis | 10q25.2 |
| ADRA2B | positive regulation of uterine smooth muscle contraction; MAPK cascade; positive regulation of blood pressure; positive regulation of neuron differentiation; epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway; negative regulation of epinephrine secretion; activation of protein kinase B activity; platelet activation; negative regulation of norepinephrine secretion; blood coagulation; cell-cell signaling; G-protein coupled receptor signaling pathway; regulation of vascular smooth muscle contraction; angiogenesis; activation of MAPK activity by adrenergic receptor signaling pathway | 2q11.1 |
| ADRA2C | energy reserve metabolic process; G-protein coupled receptor signaling pathway; cell-cell signaling; blood coagulation; negative regulation of norepinephrine secretion; platelet activation; activation of protein kinase B activity; negative regulation of epinephrine secretion; epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway; positive regulation of neuron differentiation; regulation of insulin secretion; activation of MAPK activity by adrenergic receptor signaling pathway; small molecule metabolic process | 4p16 |
| ADRB1 | sensory perception of pain; positive regulation of heart rate by epinephrine-norepinephrine; diet induced thermogenesis; vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure; positive regulation of the force of heart contraction by norepinephrine; positive regulation of systemic arterial blood pressure; glycogen catabolic process; apoptotic process; activation of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity; Rho protein signal transduction; aging; memory; response to cold; positive regulation of cAMP biosynthetic process; heat generation; negative regulation of urine volume; negative regulation of multicellular organism growth; wound healing; fear response; negative regulation of smooth muscle contraction; positive regulation of saliva secretion; brown fat cell differentiation; positive regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of inhibitory postsynaptic memb | 10q25.3 |
| ADRB2 | vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure; positive regulation of sodium ion transport; positive regulation of heart contraction; bone resorption; positive regulation of MAPK cascade; positive regulation of potassium ion transport; positive regulation of apoptotic process; wound healing; negative regulation of multicellular organism growth; negative regulation of urine volume; synaptic transmission, glutamatergic; heat generation; positive regulation of bone mineralization; negative regulation of ossification; positive regulation of vasodilation; response to cold; endosome to lysosome transport; positive regulation of cell proliferation; activation of adenylate cyclase activity; activation of adenylate cyclase activity by G-protein signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of transmembrane receptor protein tyrosine kinase activity; cell surface receptor signaling pathway; receptor-mediated endocyt | 5q31-q32 |
| ADRBK1 | heart development; cardiac muscle contraction; nerve growth factor receptor signaling pathway; regulation of the force of heart contraction; desensitization of G-protein coupled receptor protein signaling pathway; negative regulation of the force of heart contraction by chemical signal; response to oxidative stress; signal transduction; epidermal growth factor receptor signaling pathway; activation of phospholipase C activity; G-protein coupled acetylcholine receptor signaling pathway; tachykinin receptor signaling pathway; aging; fibroblast growth factor receptor signaling pathway; response to organic cyclic compound; peptidyl-serine phosphorylation; peptidyl-threonine phosphorylation; receptor internalization; positive regulation of catecholamine secretion; termination of G-protein coupled receptor signaling pathway; response to hydrogen peroxide; follicle-stimulating hormone signaling pathway; negative regulation of striated muscle contraction | 11q13.1 |
| ADRBK2 | protein phosphorylation; signal transduction; receptor internalization; termination of G-protein coupled receptor signaling pathway | 22q12.1 |
| ADRM1 | transcription elongation from RNA polymerase II promoter; positive regulation of endopeptidase activity; proteasome assembly | 20q13.33 |
| ADSL | protein tetramerization; nucleobase-containing small molecule metabolic process; small molecule metabolic process; purine ribonucleoside monophosphate biosynthetic process; aerobic respiration; response to nutrient; AMP biosynthetic process; purine nucleotide biosynthetic process; purine base metabolic process; response to hypoxia | 22q13.2 |
| ADSS | immune system process; purine base metabolic process; purine nucleotide biosynthetic process; AMP biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 1q44 |
| ADSSL1 | nucleobase-containing small molecule metabolic process; small molecule metabolic process; purine ribonucleoside monophosphate biosynthetic process; AMP biosynthetic process; purine nucleotide biosynthetic process; purine base metabolic process; immune system process | 14q32.33 |
| ADTRP | - | 6p24.1 |
| AEBP1 | regulation of transcription, DNA-dependent; muscle organ development; cell adhesion; proteolysis; skeletal system development | 7p13 |
| AEBP2 | regulation of transcription, DNA-dependent; chromatin modification | 12p12.3 |
| AEN | apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; response to DNA damage stimulus; response to ionizing radiation | 15q26.1 |
| AES | negative regulation of transcription, DNA-dependent; cellular response to extracellular stimulus; negative regulation of protein binding; Wnt receptor signaling pathway; organ morphogenesis; multicellular organismal development; regulation of transcription from RNA polymerase II promoter; skeletal system development; regulation of growth; negative regulation of transcription from RNA polymerase II promoter; negative regulation of canonical Wnt receptor signaling pathway; response to interleukin-1; negative regulation of response to cytokine stimulus | 19p13.3 |
| AF357530 | - | 4q21.1 |
| AFAP1 | - | 4p16 |
| AFAP1-AS1 | - | 4p16.1 |
| AFAP1L1 | - | 5q32 |
| AFAP1L2 | positive regulation of protein tyrosine kinase activity; positive regulation of transcription, DNA-dependent; positive regulation of epidermal growth factor receptor signaling pathway; positive regulation of interleukin-8 production; regulation of interleukin-6 production; regulation of mitotic cell cycle; inflammatory response | 10q25.3 |
| AFF1 | regulation of transcription, DNA-dependent | 4q21 |
| AFF2 | mRNA processing; brain development; regulation of RNA splicing; learning or memory | Xq28 |
| AFF3 | embryonic hindlimb morphogenesis; response to tumor necrosis factor; regulation of transcription, DNA-dependent | 2q11.2-q12 |
| AFF4 | spermatid development; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 5q31 |
| AFG3L1P | - | 16q24.3 |
| AFG3L2 | nerve development; proteolysis; axonogenesis; neuromuscular junction development; cell death; righting reflex; muscle fiber development; myelination; regulation of multicellular organism growth; protein catabolic process | 18p11 |
| AFG3L2P1 | - | 8p11.1 |
| AFM | vitamin transport | 4q13.3 |
| AFMID | small molecule metabolic process; tryptophan catabolic process; tryptophan catabolic process to kynurenine; cellular nitrogen compound metabolic process | 17q25.3 |
| AFP | sexual reproduction; pancreas development; organ regeneration; progesterone metabolic process; SMAD protein signal transduction; response to organic substance; transport; liver development; ovulation from ovarian follicle | 4q13.3 |
| AFTPH | protein transport | 2p14 |
| AGA | asparagine catabolic process via L-aspartate; protein maturation; protein deglycosylation | 4q34.3 |
| AGAP1 | protein transport; regulation of ARF GTPase activity; small GTPase mediated signal transduction | 2q37 |
| AGAP1-IT1 | - | 2q37.2 |
| AGAP10 | regulation of ARF GTPase activity | 10q11.22 |
| AGAP11 | regulation of ARF GTPase activity | 10q23.2 |
| AGAP2 | small GTPase mediated signal transduction; negative regulation of protein catabolic process; axon guidance; protein transport; negative regulation of neuron apoptosis; regulation of ARF GTPase activity | 12q14.1 |
| AGAP2-AS1 | - | 12q14.1 |
| AGAP3 | signal transduction; small GTPase mediated signal transduction; regulation of ARF GTPase activity | 7q36.1 |
| AGAP4 | regulation of ARF GTPase activity | 10q11.22 |
| AGAP5 | regulation of ARF GTPase activity | 10q22.2 |
| AGAP6 | regulation of ARF GTPase activity | 10q11.23 |
| AGAP7P | regulation of ARF GTPase activity | 10q11.23 |
| AGAP9 | regulation of ARF GTPase activity | 10q11.22 |
| AGBL1 | protein side chain deglutamylation; C-terminal protein deglutamylation; proteolysis | 15q25.3 |
| AGBL2 | proteolysis | 11p11.2 |
| AGBL3 | proteolysis | 7q33 |
| AGBL4 | C-terminal protein deglutamylation; protein side chain deglutamylation; proteolysis | 1p33 |
| AGBL5 | protein deglutamylation; protein branching point deglutamylation; proteolysis | 2p23.3 |
| AGBL5-AS1 | - | - |
| AGER | positive regulation of inflammatory response; positive regulation of smooth muscle cell proliferation; innate immune response; positive regulation of apoptotic process; induction of positive chemotaxis; positive regulation of NF-kappaB transcription factor activity; response to hyperoxia; calcium ion homeostasis; lung development; positive regulation of fibroblast migration; response to wounding; inflammatory response; cell surface receptor signaling pathway; JAK-STAT cascade; brain development; neuron projection development | 6p21.3 |
| AGFG1 | regulation of ARF GTPase activity; cell differentiation; spermatogenesis; multicellular organismal development; transport; mRNA export from nucleus | 2q36.3 |
| AGFG2 | regulation of ARF GTPase activity | 7q22.1 |
| AGGF1 | positive regulation of endothelial cell proliferation; vasculogenesis; RNA processing; cell adhesion; multicellular organismal development; positive regulation of angiogenesis | 5q13.3 |
| AGGF1P1 | - | 4q35.2 |
| AGGF1P4 | - | 16p11.1 |
| AGK | ceramide biosynthetic process; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; metabolic process | 7q34 |
| AGKP1 | - | Yq11.21 |
| AGL | glucose metabolic process; response to nutrient; response to hormone stimulus; small molecule metabolic process; response to glucocorticoid stimulus; glycogen catabolic process; glycogen biosynthetic process; carbohydrate metabolic process | 1p21 |
| AGMAT | cellular nitrogen compound metabolic process; small molecule metabolic process; agmatine biosynthetic process; polyamine metabolic process; putrescine biosynthetic process; spermidine biosynthetic process | 1p36.21 |
| AGMO | membrane lipid metabolic process; fatty acid biosynthetic process; ether lipid metabolic process | 7p21.2 |
| AGO1 | - | 1p34.3 |
| AGO2 | - | 8q24 |
| AGO3 | - | 1p34 |
| AGO4 | - | 1p34 |
| AGPAT1 | cellular lipid metabolic process; positive regulation of cellular metabolic process; triglyceride biosynthetic process; phospholipid biosynthetic process; metabolic process; phosphatidic acid biosynthetic process; phospholipid metabolic process; energy reserve metabolic process; positive regulation of cytokine-mediated signaling pathway; positive regulation of cytokine production; small molecule metabolic process | 6p21.3 |
| AGPAT2 | triglyceride biosynthetic process; positive regulation of cytokine production; positive regulation of cytokine-mediated signaling pathway; phospholipid metabolic process; cellular lipid metabolic process; phosphatidic acid biosynthetic process; epidermis development; phospholipid biosynthetic process; small molecule metabolic process | 9q34.3 |
| AGPAT3 | metabolic process; phospholipid biosynthetic process | 21q22.3 |
| AGPAT4 | metabolic process; phospholipid biosynthetic process | 6q26 |
| AGPAT4-IT1 | - | 6q26 |
| AGPAT5 | acylglycerol metabolic process; metabolic process; phospholipid biosynthetic process | 8p23.1 |
| AGPAT5P1 | - | Yp11.2 |
| AGPS | ether lipid biosynthetic process; response to chemical stimulus; lipid biosynthetic process; cellular lipid metabolic process; small molecule metabolic process | 2q31.2 |
| AGR2 | mucus secretion | 7p21.3 |
| AGR3 | - | 7p21.1 |
| AGRN | positive regulation of neuron apoptosis; positive regulation of transcription from RNA polymerase II promoter; plasma membrane organization; signal transduction; G-protein coupled acetylcholine receptor signaling pathway; clustering of voltage-gated sodium channels; synapse organization; multicellular organismal development; neurotransmitter receptor metabolic process; axon guidance; receptor clustering; cell differentiation; regulation of receptor activity; regulation of synaptic growth at neuromuscular junction; neuromuscular junction development; synapse assembly | 1p36.33 |
| AGT | positive regulation of endothelial cell migration; regulation of blood volume by renin-angiotensin; nitric oxide mediated signal transduction; activation of NF-kappaB-inducing kinase activity; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; ovarian follicle rupture; regulation of cell growth; blood vessel development; positive regulation of cytokine production; kidney development; blood vessel remodeling; angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure; renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure; cell-cell signaling; renin-angiotensin regulation of aldosterone production; regulation of renal output by angiotensin; regulation of blood vessel size by renin-angiotensin; angiotensin-mediated drinking behavior; positive regulation of extracellular matrix constituent secretion; cellular sodium ion homeostasis; indu | 1q42.2 |
| AGTPBP1 | neuromuscular process; eye photoreceptor cell differentiation; proteolysis; mitochondrion organization; cerebellar Purkinje cell layer development; cerebellar Purkinje cell differentiation; olfactory bulb development; C-terminal protein deglutamylation; protein side chain deglutamylation; neurotransmitter metabolic process; retina development in camera-type eye | 9q21.33 |
| AGTR1 | positive regulation of cellular protein metabolic process; G-protein coupled receptor signaling pathway; positive regulation of phospholipase A2 activity; positive regulation of NAD(P)H oxidase activity; low-density lipoprotein particle remodeling; regulation of renal sodium excretion; regulation of cell proliferation; regulation of vasodilation; regulation of inflammatory response; positive regulation of inflammatory response; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; cell chemotaxis; positive regulation of reactive oxygen species metabolic process; regulation of vasoconstriction; regulation of cell growth; kidney development; renin-angiotensin regulation of aldosterone production; regulation of blood vessel size by renin-angiotensin; regulation of systemic arterial blood pressure by renin-angiotensin; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; elevation | 3q24 |
| AGTR2 | cell surface receptor signaling pathway; blood vessel remodeling; regulation of systemic arterial blood pressure by circulatory renin-angiotensin; vasodilation by angiotensin involved in regulation of systemic arterial blood pressure; brain renin-angiotensin system; inflammatory response; G-protein signaling, coupled to cGMP nucleotide second messenger; G-protein coupled receptor signaling pathway; positive regulation of branching involved in ureteric bud morphogenesis; positive regulation of metanephric glomerulus development; negative regulation of nerve growth factor receptor signaling pathway; positive regulation of nitric-oxide synthase activity; positive regulation of vasodilation; positive regulation of transcription, DNA-dependent; positive regulation of nitric oxide biosynthetic process; negative regulation of blood vessel endothelial cell migration; positive regulation of apoptotic process; regulation of metanephros size; positive regulation of phosphoprotein phosphatase activity; negative regulatio | Xq22-q23 |
| AGTRAP | regulation of blood pressure; G-protein coupled receptor signaling pathway; response to hypoxia | 1p36.22 |
| AGXT | response to cAMP; response to glucocorticoid stimulus; oxalic acid secretion; glyoxylate metabolic process; small molecule metabolic process; L-alanine catabolic process; cellular nitrogen compound metabolic process; glycine biosynthetic process, by transamination of glyoxylate; glyoxylate catabolic process; pyruvate biosynthetic process; protein targeting to peroxisome | 2q37.3 |
| AGXT2 | glyoxylate metabolic process; nucleobase-containing small molecule metabolic process; pyrimidine nucleoside catabolic process; small molecule metabolic process; pyrimidine base metabolic process; cellular nitrogen compound metabolic process | 5p13 |
| AHCTF1 | nuclear pore complex assembly; mRNA transport; protein transport; cytokinesis; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 1q44 |
| AHCTF1P1 | - | 2q24.2 |
| AHCY | xenobiotic metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; methylation; one-carbon metabolic process; sulfur amino acid metabolic process | 20q11.22 |
| AHCYL1 | regulation of anion transport; regulation of ion transmembrane transporter activity; regulation of mRNA 3'-end processing; positive regulation of sodium ion transport; one-carbon metabolic process; protein export from nucleus; mRNA polyadenylation | 1p13.2 |
| AHCYL2 | one-carbon metabolic process | 7q32.1 |
| AHCYP2 | - | 9q33.2 |
| AHCYP3 | - | 2q12.1 |
| AHCYP4 | - | 2q22.1 |
| AHCYP5 | - | 2q32.3 |
| AHCYP7 | - | 15q21.2 |
| AHDC1 | - | 1p36.13 |
| AHI1 | morphogenesis of a polarized epithelium; heart looping; transmembrane receptor protein tyrosine kinase signaling pathway; positive regulation of receptor internalization; specification of axis polarity; pronephric duct morphogenesis; pronephric nephron tubule morphogenesis; photoreceptor cell outer segment organization; cloaca development; cellular protein localization; protein localization to organelle; hindbrain development; cilium assembly; negative regulation of apoptotic process; positive regulation of transcription from RNA polymerase II promoter; regulation of behavior; cilium morphogenesis; Kupffer's vesicle development; positive regulation of polarized epithelial cell differentiation; cell projection organization; vesicle-mediated transport; retina layer formation; central nervous system development; left/right axis specification; otic vesicle development | 6q23.3 |
| AHNAK | nervous system development | 11q12.2 |
| AHNAK2 | - | 14q32.33 |
| AHR | intracellular receptor mediated signaling pathway; embryonic hemopoiesis; response to estradiol stimulus; regulation of B cell proliferation; post-embryonic hemopoiesis; positive regulation of growth rate; camera-type eye development; T cell homeostasis; positive regulation of cell size; positive regulation of transcription, DNA-dependent; prostate gland development; positive regulation of RNA polymerase II transcriptional preinitiation complex assembly; negative regulation of vasoconstriction; blood vessel morphogenesis; spleen development; smooth muscle tissue development; regulation of blood vessel size; negative regulation of necrotic cell death; venous blood vessel development; kidney morphogenesis; common bile duct development; cellular response to glucocorticoid stimulus; glomerulus morphogenesis; blood vessel remodeling; regulation of gene expression; negative regulation of transcription from RNA polymerase II promoter; cell morphogenesis; ovarian follicle development; blood vessel development; patter | 7p15 |
| AHRR | regulation of transcription, DNA-dependent | 5p15.3 |
| AHSA1 | positive regulation of ATPase activity; protein folding; response to stress | 14q24 |
| AHSA2 | response to stress | 2p15 |
| AHSG | negative regulation of phosphorylation; cellular response to insulin stimulus; organ regeneration; negative regulation of bone mineralization; regulation of bone mineralization; negative regulation of cell growth; cerebral cortex development; male gonad development; acute-phase response; pinocytosis; ossification; skeletal system development; positive regulation of phagocytosis; regulation of inflammatory response; negative regulation of insulin receptor signaling pathway; positive regulation of bone resorption | 3q27 |
| AHSP | protein stabilization; hemopoiesis; hemoglobin metabolic process; protein folding | 16p11.2 |
| AIDA | negative regulation of JUN kinase activity; regulation of protein homodimerization activity; multicellular organismal development; dorsal/ventral pattern formation; negative regulation of JNK cascade | 1q41 |
| AIF1 | cellular response to extracellular stimulus; response to electrical stimulus; actin filament bundle assembly; response to axon injury; positive regulation of smooth muscle cell proliferation; positive regulation of nitric oxide biosynthetic process; negative regulation of apoptotic process; positive regulation of T cell proliferation; response to cytokine stimulus; cellular response to hormone stimulus; cellular response to interferon-gamma; positive regulation of cell migration; actin filament polymerization; Rac protein signal transduction; positive regulation of muscle hyperplasia; negative regulation of gene expression; inflammatory response; phagocytosis, engulfment; positive regulation of protein phosphorylation; microglial cell activation; positive regulation of T cell migration; cellular response to chemical stimulus; regulation of G1/S transition of mitotic cell cycle; ruffle assembly; positive regulation of monocyte chemotaxis; positive regulation of smooth muscle cell chemotaxis | 6p21.3 |
| AIF1L | - | 9q34.13-q34.3 |
| AIFM1 | neuron apoptosis; cell redox homeostasis; activation of cysteine-type endopeptidase activity involved in apoptotic process; DNA fragmentation involved in apoptotic nuclear change; apoptosis in response to endoplasmic reticulum stress | Xq26.1 |
| AIFM1P1 | - | 10p12.31 |
| AIFM2 | induction of apoptosis; apoptotic mitochondrial changes; chromosome condensation | 10q22.1 |
| AIFM3 | activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; apoptotic process; transport; induction of apoptosis; electron transport chain; cell redox homeostasis; mitochondrial depolarization | 22q11.21 |
| AIG1 | - | 6q24.2 |
| AIM1 | - | 6q21 |
| AIM1L | - | 1p36.11 |
| AIM2 | cellular response to drug; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; cellular response to interferon-beta; immune response; innate immune response; interleukin-1 beta secretion | 1q22 |
| AIMP1 | inflammatory response; leukocyte migration; gene expression; response to wounding; cell-cell signaling; signal transduction; cell adhesion; chemotaxis; apoptotic process; tRNA aminoacylation for protein translation; carbohydrate metabolic process; negative regulation of endothelial cell proliferation; angiogenesis; glucose metabolic process | 4q24 |
| AIMP1P1 | - | 20p12.1 |
| AIMP2 | gene expression; cell differentiation; tRNA aminoacylation for protein translation; apoptotic process; multicellular organismal development | 7p22 |
| AIP | xenobiotic metabolic process; signal transduction; regulation of protein kinase A signaling cascade; protein maturation by protein folding; negative regulation of cyclic-nucleotide phosphodiesterase activity; protein targeting to mitochondrion | 11q13.3 |
| AIPL1 | protein folding; retina homeostasis; response to stimulus; negative regulation of apoptotic process; regulation of cGMP metabolic process; protein farnesylation; phototransduction, visible light; visual perception | 17p13.1 |
| AIRE | immune response; humoral immune response; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 21q22.3 |
| AJAP1 | cell adhesion | 1p36.32 |
| AJUBA | cell cycle; positive regulation of cellular biosynthetic process; cell adhesion; calcium-dependent cell-cell adhesion; lamellipodium assembly; regulation of cell migration; positive regulation of protein complex assembly; positive regulation of kinase activity; negative regulation of transcription from RNA polymerase II promoter; gene silencing by miRNA; wound healing, spreading of epidermal cells; regulation of GTPase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of MAP kinase activity; glycerophospholipid biosynthetic process; focal adhesion assembly; negative regulation of kinase activity; cellular protein localization | 14q11.2 |
| AK1 | nucleobase-containing compound metabolic process; nucleobase-containing small molecule interconversion; small molecule metabolic process; ATP metabolic process; nucleobase-containing small molecule metabolic process | 9q34.1 |
| AK2 | nucleobase-containing small molecule metabolic process; small molecule metabolic process; nucleobase-containing small molecule interconversion | 1p34 |
| AK2P1 | - | 1p32.1 |
| AK2P2 | - | 2p23.1 |
| AK3 | nucleobase-containing compound metabolic process; AMP phosphorylation; blood coagulation | 9p24.1 |
| AK3P2 | - | 8q24.3 |
| AK3P3 | - | - |
| AK3P5 | - | 10p11.22 |
| AK4P2 | - | 5q11.2 |
| AK4P3 | - | 12p11.21 |
| AK4P4 | - | 9p24.1 |
| AK5 | ATP metabolic process; ADP biosynthetic process; dADP biosynthetic process; signal transduction; nucleotide biosynthetic process; pyrimidine ribonucleotide biosynthetic process; nucleobase-containing small molecule metabolic process; nucleobase-containing small molecule interconversion; small molecule metabolic process | 1p31 |
| AK7 | cell projection organization; nucleobase-containing compound metabolic process | 14q32.2 |
| AK8 | nucleobase-containing compound metabolic process | 9q34.13 |
| AK9 | - | 6q21 |
| AKAP1 | cellular response to insulin stimulus; blood coagulation; cellular response to chemical stimulus; negative regulation of NFAT protein import into nucleus; negative regulation of protein dephosphorylation; negative regulation of cardiac muscle hypertrophy | 17q22 |
| AKAP10 | protein localization; signal transduction; blood coagulation; termination of G-protein coupled receptor signaling pathway | 17p11.1 |
| AKAP11 | intracellular protein kinase cascade; regulation of protein kinase A signaling cascade | 13q14.11 |
| AKAP12 | positive regulation of cAMP biosynthetic process; positive regulation of protein kinase A signaling cascade; G-protein coupled receptor signaling pathway; signal transduction; protein targeting | 6q24-q25 |
| AKAP13 | small GTPase mediated signal transduction; apoptotic process; induction of apoptosis by extracellular signals; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction | 15q24-q25 |
| AKAP14 | spermatogenesis | Xq24 |
| AKAP16BP | - | Xq24 |
| AKAP17A | mRNA processing; regulation of RNA splicing; B cell activation; signal transduction; regulation of transcription, DNA-dependent | Xp22.33 and Yp11.32 |
| AKAP2 | - | 9q31.3 |
| AKAP3 | cellular component movement; protein localization; acrosome reaction; transmembrane receptor protein serine/threonine kinase signaling pathway; single fertilization | 12p13.3 |
| AKAP4 | single fertilization; cellular component movement; signal transduction; transmembrane receptor protein serine/threonine kinase signaling pathway; sperm motility; protein localization; cell projection organization | Xp11.2 |
| AKAP5 | signal transduction; protein targeting; energy reserve metabolic process; synaptic transmission; positive regulation of protein kinase A signaling cascade; positive regulation of cAMP biosynthetic process; small molecule metabolic process; regulation of insulin secretion | 14q23.3 |
| AKAP6 | protein targeting; positive regulation of protein phosphatase type 2B activity; regulation of protein kinase A signaling cascade | 14q12 |
| AKAP7 | ion transport; protein localization; intracellular signal transduction; RNA metabolic process; regulation of protein kinase A signaling cascade | 6q23 |
| AKAP8 | mitosis; mitotic chromosome condensation; signal transduction | 19p13.1 |
| AKAP8L | - | 19p13.12 |
| AKAP9 | transport; G2/M transition of mitotic cell cycle; mitotic cell cycle; signal transduction; synaptic transmission | 7q21-q22 |
| AKIP1 | substrate adhesion-dependent cell spreading | 11p15.3 |
| AKIRIN1 | - | 1p34.3 |
| AKIRIN2 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; innate immune response; positive regulation of interleukin-6 production; positive regulation of cell proliferation; embryo development; response to lipopolysaccharide | 6q15 |
| AKNA | regulation of transcription, DNA-dependent | 9q32 |
| AKNAD1 | - | 1p13.3 |
| AKR1A1 | glucose metabolic process; cellular aldehyde metabolic process; L-ascorbic acid biosynthetic process; D-glucuronate catabolic process; aldehyde catabolic process | 1p33-p32 |
| AKR1B1 | small molecule metabolic process; steroid metabolic process; antibiotic metabolic process; response to stress; C21-steroid hormone biosynthetic process; carbohydrate metabolic process | 7q35 |
| AKR1B10 | cellular aldehyde metabolic process; digestion; steroid metabolic process; farnesol catabolic process; antibiotic metabolic process | 7q33 |
| AKR1B10P1 | - | 10q21.3 |
| AKR1B10P2 | - | 18q22.1 |
| AKR1B15 | - | 7q33 |
| AKR1B1P1 | - | 1q42.12 |
| AKR1B1P3 | - | 11p15.1 |
| AKR1B1P4 | - | 13q14.13 |
| AKR1B1P5 | - | 14q23.1 |
| AKR1B1P6 | - | 18p11.22 |
| AKR1B1P7 | - | 19q13.11 |
| AKR1B1P8 | - | Xq23 |
| AKR1C1 | progesterone metabolic process; xenobiotic metabolic process; digestion; bile acid metabolic process; bile acid and bile salt transport; antibiotic metabolic process; intestinal cholesterol absorption; retinal metabolic process; cholesterol homeostasis; response to organophosphorus; protein homooligomerization; oxidation-reduction process; cellular response to jasmonic acid stimulus | 10p15-p14 |
| AKR1C2 | oxidation-reduction process; digestion; steroid metabolic process; positive regulation of cell proliferation; antibiotic metabolic process; response to prostaglandin stimulus; progesterone metabolic process; positive regulation of protein kinase B signaling cascade; cellular response to jasmonic acid stimulus; G-protein coupled receptor signaling pathway; prostaglandin metabolic process | 10p15-p14 |
| AKR1C3 | cellular response to starvation; retinal metabolic process; oxidation-reduction process; male gonad development; positive regulation of cell proliferation; multicellular organismal macromolecule metabolic process; regulation of retinoic acid receptor signaling pathway; positive regulation of protein kinase B signaling cascade; protein import into nucleus, translocation; retinoic acid biosynthetic process; G-protein coupled receptor signaling pathway; response to nutrient; positive regulation of reactive oxygen species metabolic process; positive regulation of endothelial cell apoptosis; regulation of testosterone biosynthetic process; cellular response to jasmonic acid stimulus; cellular response to corticosteroid stimulus; cellular response to prostaglandin stimulus; cellular response to calcium ion; cellular response to cadmium ion; testosterone biosynthetic process; positive regulation of cell death; farnesol catabolic process; antibiotic metabolic process; keratinocyte differentiation; cellular response t | 10p15-p14 |
| AKR1C4 | antibiotic metabolic process; cellular response to jasmonic acid stimulus; small molecule metabolic process; bile acid and bile salt transport; androgen metabolic process; bile acid metabolic process; steroid metabolic process; bile acid biosynthetic process | 10p15.1 |
| AKR1C5P | - | - |
| AKR1C6P | - | 10p15.1 |
| AKR1C7P | - | 10p15.1 |
| AKR1C8P | - | 10p15.1 |
| AKR1D1 | bile acid biosynthetic process; cholesterol catabolic process; digestion; bile acid metabolic process; C21-steroid hormone metabolic process; androgen metabolic process; bile acid catabolic process; small molecule metabolic process; oxidation-reduction process | 7q32-q33 |
| AKR1E2 | - | 10p15.1 |
| AKR7A2 | carbohydrate metabolic process; cellular aldehyde metabolic process; antibiotic metabolic process | 1p36.13 |
| AKR7A2P1 | - | 1p12 |
| AKR7A3 | cellular aldehyde metabolic process | 1p36.13 |
| AKR7L | - | 1p36.13|1p35-p36.1 |
| AKT1 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; intracellular signal transduction; response to fluid shear stress; positive regulation of blood vessel endothelial cell migration; small molecule metabolic process; positive regulation of nitric-oxide synthase activity; positive regulation of peptidyl-serine phosphorylation; cellular response to insulin stimulus; positive regulation of cellular protein metabolic process; negative regulation of fatty acid beta-oxidation; positive regulation of cyclin-dependent protein kinase activity involved in G1/S; nitric oxide metabolic process; T cell costimulation; regulation of nitric-oxide synthase activity; positive regulation of anti-apoptosis; positive regulation of glycogen biosynthetic process; positive regulation of glucose import; protein autophosphorylation; positive regulation of lipid biosynthetic process; insulin-like growth factor receptor signaling pathway; nerve growth facto | 14q32.32 |
| AKT1S1 | negative regulation of protein kinase activity; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; negative regulation of TOR signaling cascade; neuroprotection; negative regulation of cell size; regulation of survival gene product expression; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling | 19q13.33 |
| AKT2 | positive regulation of sodium ion transport; positive regulation of peptidyl-serine phosphorylation; negative regulation of RNA splicing; cellular response to hormone stimulus; cellular response to insulin stimulus; positive regulation of fatty acid beta-oxidation; positive regulation of cell migration; regulation of cell migration; phosphorylation; response to muscle activity; positive regulation of glucose metabolic process; negative regulation of apoptotic process; negative regulation of plasma membrane long-chain fatty acid transport; positive regulation of gene expression; positive regulation of signal transduction; carbohydrate transport; insulin receptor signaling pathway; multicellular organismal development; signal transduction; response to osmotic stress; transport; protein modification process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; carbohydrate metabolic process; regulation of translation; positive regulation of cell motility; regulation of cell | 19q13.1-q13.2 |
| AKT3 | mitochondrial genome maintenance; protein phosphorylation; signal transduction | 1q44 |
| AKTIP | positive regulation of protein phosphorylation; apoptotic process; endosome to lysosome transport; endosome organization; lysosome organization; protein transport; early endosome to late endosome transport; positive regulation of protein binding | 16q12.2 |
| ALAD | porphyrin-containing compound metabolic process; heme biosynthetic process; small molecule metabolic process; protein homooligomerization | 9q33.1 |
| ALAS1 | tetrapyrrole biosynthetic process; cellular lipid metabolic process; small molecule metabolic process; heme biosynthetic process; biosynthetic process; porphyrin-containing compound metabolic process | 3p21.1 |
| ALAS2 | tetrapyrrole biosynthetic process; small molecule metabolic process; hemoglobin biosynthetic process; oxygen homeostasis; erythrocyte differentiation; biosynthetic process; cellular iron ion homeostasis; heme biosynthetic process; porphyrin-containing compound metabolic process; response to hypoxia | Xp11.21 |
| ALB | response to mercury ion; positive regulation of circadian sleep/wake cycle, non-REM sleep; small molecule metabolic process; sodium-independent organic anion transport; negative regulation of programmed cell death; negative regulation of apoptotic process; lipoprotein metabolic process; platelet activation; hemolysis by symbiont of host erythrocytes; bile acid and bile salt transport; response to organic substance; cellular response to starvation; bile acid metabolic process; blood coagulation; response to nutrient; response to stress; transport; lipid metabolic process; platelet degranulation; maintenance of mitochondrion location; transmembrane transport; response to platinum ion | 4q13.3 |
| ALCAM | cell adhesion; signal transduction; axon guidance; motor axon guidance | 3q13.1 |
| ALDH16A1 | - | 19q13.33 |
| ALDH18A1 | small molecule metabolic process; cellular nitrogen compound metabolic process; cellular amino acid biosynthetic process; proline biosynthetic process | 10q24.3 |
| ALDH1A1 | positive regulation of Ras GTPase activity; small molecule metabolic process; xenobiotic metabolic process; cellular aldehyde metabolic process; ethanol oxidation | 9q21.13 |
| ALDH1A2 | liver development; determination of bilateral symmetry; neuron differentiation; pituitary gland development; neural tube development; morphogenesis of embryonic epithelium; neural crest cell development; positive regulation of gene expression; proximal/distal pattern formation; anterior/posterior pattern specification; blood vessel development; negative regulation of cell proliferation; positive regulation of cell proliferation; midgut development; vitamin A metabolic process; heart morphogenesis; regulation of endothelial cell proliferation; kidney development; forebrain development; cellular response to retinoic acid; face development; embryonic digestive tract development; retinoic acid receptor signaling pathway; positive regulation of apoptotic process; 9-cis-retinoic acid biosynthetic process; retinal metabolic process; retinoic acid metabolic process; embryonic forelimb morphogenesis; response to cytokine stimulus; response to vitamin A; response to estradiol stimulus; embryonic camera-type eye develop | 15q21.3 |
| ALDH1A3 | olfactory pit development; response to drug; face development; embryonic eye morphogenesis; positive regulation of apoptotic process; retinal metabolic process; retinoic acid metabolic process; embryonic camera-type eye development; pituitary gland development; nucleus accumbens development; retinoic acid biosynthetic process; optic cup morphogenesis involved in camera-type eye development; kidney development | 15q26.3 |
| ALDH1B1 | carbohydrate metabolic process | 9p11.1 |
| ALDH1L1 | biosynthetic process; 10-formyltetrahydrofolate catabolic process | 3q21.3 |
| ALDH1L2 | biosynthetic process; 10-formyltetrahydrofolate catabolic process | 12q23.3 |
| ALDH2 | carbohydrate metabolic process; alcohol metabolic process; ethanol oxidation; xenobiotic metabolic process; synaptic transmission; neurotransmitter biosynthetic process; small molecule metabolic process | 12q24.2 |
| ALDH3A1 | response to nutrient; response to hypoxia; aging; positive regulation of cell proliferation; response to organic cyclic compound; response to drug; response to glucocorticoid stimulus; response to cAMP; oxidation-reduction process; cellular aldehyde metabolic process | 17p11.2 |
| ALDH3A2 | oxidation-reduction process; cellular aldehyde metabolic process | 17p11.2 |
| ALDH3B1 | alcohol metabolic process; lipid metabolic process; cellular response to oxidative stress; aldehyde catabolic process; oxidation-reduction process | 11q13 |
| ALDH3B2 | lipid metabolic process; alcohol metabolic process; cellular aldehyde metabolic process | 11q13 |
| ALDH4A1 | proline metabolic process; cellular nitrogen compound metabolic process; proline biosynthetic process; proline catabolic process; small molecule metabolic process | 1p36 |
| ALDH5A1 | glucose metabolic process; acetate metabolic process; succinate metabolic process; synaptic transmission; glutamate metabolic process; glutamine metabolic process; glycerophospholipid metabolic process; galactosylceramide metabolic process; glutathione metabolic process; neurotransmitter secretion; central nervous system development; gamma-aminobutyric acid catabolic process; respiratory electron transport chain; neurotransmitter catabolic process; short-chain fatty acid metabolic process; protein homotetramerization | 6p22 |
| ALDH6A1 | valine metabolic process; branched chain family amino acid catabolic process; thymine metabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 14q24.3 |
| ALDH7A1 | cellular aldehyde metabolic process; lysine catabolic process; sensory perception of sound; cellular nitrogen compound metabolic process; small molecule metabolic process | 5q31 |
| ALDH7A1P1 | - | 5q14 |
| ALDH7A1P3 | - | 7q36 |
| ALDH8A1 | retinoic acid metabolic process; 9-cis-retinoic acid biosynthetic process; retinal metabolic process | 6q23.2 |
| ALDH9A1 | kidney development; liver development; cellular aldehyde metabolic process; cellular nitrogen compound metabolic process; neurotransmitter biosynthetic process; hormone metabolic process; small molecule metabolic process; carnitine biosynthetic process; oxidation-reduction process | 1q23.1 |
| ALDOA | glucose metabolic process; small molecule metabolic process; gluconeogenesis; glycolysis; ATP biosynthetic process; striated muscle contraction; actin filament organization; blood coagulation; fructose metabolic process; carbohydrate metabolic process; platelet degranulation; platelet activation; fructose 1,6-bisphosphate metabolic process; regulation of cell shape; muscle cell homeostasis; protein homotetramerization | 16p11.2 |
| ALDOAP2 | - | 10q26.13 |
| ALDOB | fructose 1,6-bisphosphate metabolic process; gluconeogenesis; glycolysis; glucose metabolic process; fructose catabolic process; fructose metabolic process; carbohydrate metabolic process; NADH oxidation; positive regulation of ATPase activity; small molecule metabolic process; vacuolar proton-transporting V-type ATPase complex assembly | 9q21.3-q22.2 |
| ALDOC | gluconeogenesis; response to hypoxia; carbohydrate metabolic process; fructose metabolic process; protein heterotetramerization; protein homotetramerization; organ regeneration; fructose 1,6-bisphosphate metabolic process; glucose metabolic process; response to organic cyclic compound; glycolysis; apoptotic process; response to organic nitrogen; aging; small molecule metabolic process | 17cen-q12 |
| ALG1 | lipopolysaccharide biosynthetic process; cellular protein metabolic process; protein glycosylation; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification | 16p13.3 |
| ALG10 | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; dolichol-linked oligosaccharide biosynthetic process | 12p11.1 |
| ALG10B | post-translational protein modification; cellular protein metabolic process; protein N-linked glycosylation via asparagine; dolichol-linked oligosaccharide biosynthetic process | 12q12 |
| ALG11 | dolichol-linked oligosaccharide biosynthetic process; biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 13q14.2 |
| ALG12 | dolichol-linked oligosaccharide biosynthetic process; GPI anchor biosynthetic process; cellular protein metabolic process; protein N-linked glycosylation; protein folding; post-translational protein modification; protein N-linked glycosylation via asparagine | 22q13.33 |
| ALG13 | carbohydrate metabolic process; cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine; lipid glycosylation; post-translational protein modification | Xq23 |
| ALG14 | dolichol-linked oligosaccharide biosynthetic process; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine | 1p21.3 |
| ALG1L | - | 3q21.2 |
| ALG1L15P | - | 3q25.31 |
| ALG1L2 | - | 3q22.1 |
| ALG1L3P | - | 4p16.1 |
| ALG1L5P | - | 7p22.1 |
| ALG1L6P | - | 3p12.3 |
| ALG1L9P | - | 11q13.4 |
| ALG2 | response to calcium ion; dolichol-linked oligosaccharide biosynthetic process; biosynthetic process; protein N-linked glycosylation via asparagine; cellular protein metabolic process; protein glycosylation in endoplasmic reticulum; post-translational protein modification | 9q22.33 |
| ALG3 | protein glycosylation; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine; cellular protein metabolic process; post-translational protein modification | 3q27.1 |
| ALG3P1 | - | 5p15.32 |
| ALG5 | protein N-linked glycosylation via asparagine; post-translational protein modification; determination of left/right symmetry; dolichol-linked oligosaccharide biosynthetic process; cellular protein metabolic process; protein glycosylation | 13q13.3 |
| ALG6 | post-translational protein modification; cellular protein metabolic process; protein N-linked glycosylation; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine | 1p31.3 |
| ALG8 | cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation; protein N-linked glycosylation via asparagine; post-translational protein modification | 11q14.1 |
| ALG9 | protein N-linked glycosylation via asparagine; dolichol-linked oligosaccharide biosynthetic process; cellular protein metabolic process; GPI anchor biosynthetic process; post-translational protein modification | 11q23 |
| ALK | transmembrane receptor protein tyrosine kinase signaling pathway; positive regulation of NF-kappaB transcription factor activity; neuron development; protein autophosphorylation; regulation of apoptotic process; NIK/NF-kappaB cascade; phosphorylation; cell proliferation; signal transduction; activation of MAPK activity | 2p23 |
| ALKBH1 | neuron migration; placenta development; DNA repair; DNA dealkylation involved in DNA repair; regulation of gene expression; cell differentiation; neuron projection development; RNA repair; neuroprotection; in utero embryonic development; developmental growth; oxidative demethylation; DNA demethylation | 14q24.3 |
| ALKBH2 | oxidative DNA demethylation; DNA repair; DNA demethylation; oxidative demethylation; DNA dealkylation involved in DNA repair | 12q24.11 |
| ALKBH3 | oxidative single-stranded DNA demethylation; DNA repair; DNA dealkylation involved in DNA repair; DNA demethylation | 11p11.2 |
| ALKBH4 | - | 7q22.1 |
| ALKBH5 | - | 17p11.2|17p11.2 |
| ALKBH6 | - | 19q13.12 |
| ALKBH7 | - | 19p13.3 |
| ALKBH8 | response to DNA damage stimulus; tRNA methylation | 11q22.3 |
| ALLC | - | 2q35 |
| ALMS1 | sensory perception of sound; epithelial cell proliferation; G2/M transition of mitotic cell cycle; mitotic cell cycle; lipid metabolic process; triglyceride metabolic process; apoptotic process; developmental growth; retinal rod cell development; regulation of fat cell differentiation; cholesterol homeostasis; glucose homeostasis; cilium assembly; calcium-mediated signaling; spermatid development | 2p13 |
| ALMS1-IT1 | - | - |
| ALMS1P | - | 2p13.1 |
| ALOX12 | negative regulation of cell killing; positive regulation of cell growth; positive regulation of mitochondrial depolarization; fatty acid oxidation; positive regulation of cell killing; superoxide anion generation; positive regulation of apoptotic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of endothelial cell differentiation; positive regulation of cell adhesion; reactive oxygen species metabolic process; positive regulation of gene expression; positive regulation of endothelial cell migration; positive regulation of cell proliferation; cellular component movement; anti-apoptosis; leukotriene biosynthetic process | 17p13.1 |
| ALOX12-AS1 | - | - |
| ALOX12B | leukotriene biosynthetic process; epidermis development; lipid metabolic process | 17p13.1 |
| ALOX12P1 | - | 17q11 |
| ALOX12P2 | - | 17p13 |
| ALOX15 | lipoxygenase pathway; bone mineralization; leukotriene biosynthetic process; inflammatory response; lipid metabolic process | 17p13.3 |
| ALOX15B | negative regulation of growth; negative regulation of cell cycle; regulation of epithelial cell differentiation; prostate gland development; negative regulation of cell migration; leukotriene biosynthetic process; negative regulation of cell proliferation; induction of apoptosis; fatty acid metabolic process; lipid metabolic process | 17p13.1 |
| ALOX15P2 | - | 9q22.31 |
| ALOX5 | prostanoid metabolic process; acute inflammatory response; leukotriene production involved in inflammatory response; leukotriene metabolic process; response to nutrient; sensory perception of pain; arachidonic acid metabolic process; leukotriene biosynthetic process; lipoxygenase pathway; small molecule metabolic process; positive regulation of vasoconstriction; response to hyperoxia | 10q11.2 |
| ALOX5AP | cellular response to calcium ion; leukotriene production involved in inflammatory response; leukotriene biosynthetic process; protein homotrimerization | 13q12 |
| ALOXE3 | leukotriene biosynthetic process | 17p13.1 |
| ALPI | phosphorylation | 2q37.1 |
| ALPK1 | protein phosphorylation | 4q25 |
| ALPK2 | protein phosphorylation | 18q21.31 |
| ALPK3 | heart development; multicellular organismal development; protein phosphorylation | 15q25.2 |
| ALPL | response to lipopolysaccharide; response to vitamin D; response to antibiotic; response to glucocorticoid stimulus; cellular response to organic cyclic compound; cementum mineralization; skeletal system development; biomineral tissue development | 1p36.12 |
| ALPP | - | 2q37 |
| ALS2 | positive regulation of Rac GTPase activity; in utero embryonic development; endosome organization; axonogenesis; cell death; positive regulation of Rac protein signal transduction; regulation of Rho protein signal transduction; positive regulation of protein kinase activity; neuron projection morphogenesis; regulation of endosome size; positive regulation of protein serine/threonine kinase activity | 2q33.1 |
| ALS2CL | endosome organization; regulation of Rho protein signal transduction | 3p21.31 |
| ALS2CR11 | - | 2q33.1 |
| ALS2CR12 | regulation of GTPase activity | 2q33.1 |
| ALX1 | negative regulation of transcription from RNA polymerase II promoter; cartilage condensation; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; multicellular organismal development; brain development; positive regulation of transcription, DNA-dependent | 12q21.31 |
| ALX3 | multicellular organismal development | 1p13.3 |
| ALX4 | palate development; embryonic skeletal system morphogenesis; positive regulation of transcription from RNA polymerase II promoter; regulation of apoptotic process; embryonic digit morphogenesis; embryonic hindlimb morphogenesis; embryonic forelimb morphogenesis; limb morphogenesis; anterior/posterior pattern specification; post-embryonic development; skeletal system development; digestive tract development; hair follicle development; muscle organ development; pattern specification process | 11p11.2 |
| ALYREF | transport; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA export from nucleus; RNA splicing; gene expression; mRNA 3'-end processing; interspecies interaction between organisms; intronless viral mRNA export from host nucleus | 17q25.3 |
| AMACR | bile acid biosynthetic process; bile acid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; cellular lipid metabolic process; small molecule metabolic process | 5p13 |
| AMBN | cell adhesion; cell proliferation; bone mineralization; odontogenesis of dentin-containing tooth | 4q21 |
| AMBP | negative regulation of immune response; negative regulation of JNK cascade; interspecies interaction between organisms; heme catabolic process; protein-chromophore linkage; female pregnancy; cell adhesion | 9q32-q33 |
| AMBRA1 | multicellular organismal development; nervous system development; autophagy; cell differentiation | 11p11.2 |
| AMD1 | small molecule metabolic process; cellular nitrogen compound metabolic process; spermidine biosynthetic process; spermine biosynthetic process; polyamine metabolic process | 6q21 |
| AMDHD1 | small molecule metabolic process; cellular nitrogen compound metabolic process; histidine catabolic process; histidine catabolic process to glutamate and formamide | 12q23.1 |
| AMDHD2 | N-acetylglucosamine metabolic process; carbohydrate metabolic process | 16p13.3 |
| AMER1 | - | Xq11.2 |
| AMER2 | - | 13q12.13 |
| AMER3 | - | 2q21.1 |
| AMFR | protein polyubiquitination; protein oligomerization; endoplasmic reticulum unfolded protein response; ER-associated protein catabolic process; protein ubiquitination; learning or memory; aging; signal transduction; cellular component movement; ubiquitin-dependent protein catabolic process | 16q21 |
| AMH | cell-cell signaling; positive regulation of NF-kappaB transcription factor activity; response to drug; cell differentiation; response to organic cyclic compound; positive regulation of gene expression; aging; sex determination; gonadal mesoderm development; Mullerian duct regression; urogenital system development; preantral ovarian follicle growth; sex differentiation | 19p13.3 |
| AMHR2 | Mullerian duct regression; signal transduction; transforming growth factor beta receptor signaling pathway; sex differentiation | 12q13 |
| AMIGO1 | myelination; positive regulation of axonogenesis; cell differentiation; axonal fasciculation; nervous system development; multicellular organismal development; heterophilic cell-cell adhesion; homophilic cell adhesion; cell adhesion | 1p13.3 |
| AMIGO2 | heterophilic cell-cell adhesion; homophilic cell adhesion; negative regulation of programmed cell death; anti-apoptosis; cell adhesion | 12q13.11 |
| AMIGO3 | heterophilic cell-cell adhesion; cell adhesion | 3p21 |
| AMMECR1 | - | Xq22.3 |
| AMMECR1L | - | 2q21 |
| AMMECR1LP1 | - | - |
| AMN | lipoprotein metabolic process; multicellular organismal development; lipid metabolic process; excretion; protein localization; small molecule metabolic process | 14q32.3 |
| AMN1 | - | 12p11.21 |
| AMOT | hippo signaling cascade; negative regulation of vascular permeability; positive regulation of blood vessel endothelial cell migration; cell migration involved in gastrulation; positive regulation of cell size; positive regulation of embryonic development; positive regulation of stress fiber assembly; negative regulation of angiogenesis; in utero embryonic development; gastrulation with mouth forming second; vasculogenesis; chemotaxis; cell-cell junction assembly; actin cytoskeleton organization; regulation of cell migration; cellular protein localization | Xq23 |
| AMOTL1 | - | 11q14.3 |
| AMOTL2 | - | 3q21-q22 |
| AMPD1 | nucleotide metabolic process; nucleobase-containing small molecule metabolic process; small molecule metabolic process; purine-containing compound salvage; IMP biosynthetic process; purine base metabolic process | 1p13 |
| AMPD2 | purine base metabolic process; purine nucleotide metabolic process; IMP biosynthetic process; purine-containing compound salvage; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 1p13.3 |
| AMPD3 | purine-containing compound salvage; small molecule metabolic process; nucleobase-containing small molecule metabolic process; nucleotide metabolic process; IMP biosynthetic process; purine base metabolic process; AMP catabolic process | 11p15 |
| AMPH | endocytosis; synaptic transmission; learning; positive regulation of GTPase activity; positive regulation of endocytosis; synaptic vesicle endocytosis | 7p14-p13 |
| AMT | glycine catabolic process | 3p21.2-p21.1 |
| AMTN | odontogenesis of dentin-containing tooth; biomineral tissue development; cell adhesion | 4q13.3 |
| AMY1A | - | 1p21 |
| AMY1B | carbohydrate metabolic process | 1p21 |
| AMY2A | carbohydrate metabolic process; carbohydrate catabolic process; polysaccharide digestion; small molecule metabolic process | 1p21 |
| AMZ1 | proteolysis | 7p22.3 |
| AMZ2 | proteolysis | 17q24.2 |
| AMZ2P1 | - | 17q24.1 |
| ANAPC1 | cell cycle checkpoint; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mitotic cell cycle spindle assembly checkpoint; mitotic cell cycle; mitosis | 2q12.1 |
| ANAPC10 | ubiquitin-dependent protein catabolic process; mitotic cell cycle; mitotic anaphase; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell cycle checkpoint; mitosis; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; mitotic cell cycle spindle assembly checkpoint; protein ubiquitination; regulation of mitotic metaphase/anaphase transition; protein K11-linked ubiquitination; G2/M transition of mitotic cell cycle | 4q31 |
| ANAPC11 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell cycle checkpoint; mitotic cell cycle; mitosis; mitotic cell cycle spindle assembly checkpoint; protein ubiquitination; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell division; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination | 17q25.3 |
| ANAPC13 | cell division; cell cycle; mitosis; protein K11-linked ubiquitination | 3q22.2 |
| ANAPC15 | - | 11q13.4 |
| ANAPC16 | cell division; cell cycle; mitosis; protein ubiquitination | 10q22.1 |
| ANAPC1P1 | - | 2p11.2 |
| ANAPC2 | nervous system development; cyclin catabolic process; mitotic cell cycle spindle assembly checkpoint; mitosis; ubiquitin-dependent protein catabolic process; mitotic cell cycle; protein ubiquitination; cell differentiation; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of synaptic plasticity; positive regulation of axon extension; positive regulation of dendrite morphogenesis; cell division; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; positive regulation of synapse maturation; regulation of cyclin-dependent protein kinase activity; cell cycle checkpoint | 9q34.3 |
| ANAPC4 | cell cycle checkpoint; mitotic anaphase; protein K11-linked ubiquitination; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; G2/M transition of mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; regulation of mitotic metaphase/anaphase transition; protein ubiquitination; mitotic cell cycle spindle assembly checkpoint; mitosis; mitotic cell cycle; ubiquitin-dependent protein catabolic process | 4p15.2 |
| ANAPC5 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; cell division; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; mitotic cell cycle spindle assembly checkpoint; ubiquitin-dependent protein catabolic process; mitotic cell cycle; mitotic anaphase; G2/M transition of mitotic cell cycle; cell cycle checkpoint | 12q24.31 |
| ANAPC7 | cell division; mitotic cell cycle; mitosis; mitotic cell cycle spindle assembly checkpoint; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell cycle checkpoint | 12q24.11 |
| ANG | multicellular organismal development; homeostatic process; metabolic process; cell death; rRNA transcription; positive regulation of protein secretion; response to hormone stimulus; cell migration; negative regulation of translation; actin filament polymerization; placenta development; negative regulation of smooth muscle cell proliferation; cell differentiation; activation of protein kinase B activity; activation of phospholipase A2 activity; positive regulation of phosphorylation; cell communication; activation of phospholipase C activity; angiogenesis; ovarian follicle development; oocyte maturation; response to hypoxia; positive regulation of endothelial cell proliferation; diacylglycerol biosynthetic process | 14q11.1-q11.2 |
| ANGEL1 | - | 14q24.3 |
| ANGEL2 | - | 1q32.3 |
| ANGPT1 | regulation of satellite cell proliferation; positive regulation of endothelial cell migration; blood coagulation; multicellular organismal development; activation of transmembrane receptor protein tyrosine kinase activity; signal transduction; negative regulation of cell adhesion; anti-apoptosis; positive regulation of receptor internalization; sprouting angiogenesis; regulation of endothelial cell proliferation; negative regulation of endothelial cell apoptosis; negative regulation of vascular permeability; negative regulation of apoptotic process; protein localization at cell surface; positive regulation of protein ubiquitination; heparin biosynthetic process; cell differentiation; Tie receptor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; leukocyte migration; positive chemotaxis; positive regulation of protein kinase B signaling cascade; positive regulation of ERK1 and ERK2 cascade; positive regulation of blood vessel endothelial cell migration | 8q23.1 |
| ANGPT2 | response to activity; response to organic cyclic compound; negative regulation of angiogenesis; cell differentiation; organ regeneration; negative regulation of blood vessel endothelial cell migration; positive regulation of angiogenesis; Tie receptor signaling pathway; leukocyte migration; negative regulation of positive chemotaxis; maternal process involved in female pregnancy; negative regulation of cell-substrate adhesion; response to glucose stimulus; response to mechanical stimulus; response to radiation; blood coagulation; germ cell development; multicellular organismal development; signal transduction; response to hypoxia | 8p23.1 |
| ANGPT4 | anti-apoptosis; signal transduction; blood coagulation; positive regulation of endothelial cell migration; negative regulation of angiogenesis; negative regulation of apoptotic process; positive regulation of blood vessel endothelial cell migration; negative regulation of blood vessel endothelial cell migration; positive regulation of angiogenesis; positive regulation of peptidyl-tyrosine phosphorylation; leukocyte migration; cellular response to hypoxia; activation of transmembrane receptor protein tyrosine kinase activity; endothelial cell proliferation | 20p13 |
| ANGPTL1 | transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction | 1q25.2 |
| ANGPTL2 | signal transduction; multicellular organismal development | 9q34 |
| ANGPTL3 | triglyceride homeostasis; glycerol metabolic process; phospholipid homeostasis; acylglycerol homeostasis; lipid homeostasis; negative regulation of lipoprotein lipase activity; positive regulation of lipid catabolic process; artery morphogenesis; positive regulation of angiogenesis; negative regulation of catalytic activity; cholesterol homeostasis; positive regulation of cell migration; lipid storage; negative regulation of phospholipase activity; response to hormone stimulus; phospholipid catabolic process; cholesterol metabolic process; integrin-mediated signaling pathway; signal transduction; cell-matrix adhesion; phospholipid metabolic process; fatty acid metabolic process | 1p31.3 |
| ANGPTL4 | protein homooligomerization; signal transduction; multicellular organismal development; triglyceride homeostasis; cell differentiation; response to hypoxia; cellular lipid metabolic process; negative regulation of lipoprotein lipase activity; negative regulation of catalytic activity; negative regulation of apoptotic process; small molecule metabolic process; positive regulation of angiogenesis | 19p13.3 |
| ANGPTL5 | signal transduction | 11q22.1 |
| ANGPTL6 | angiogenesis; signal transduction; multicellular organismal development; cell differentiation | 19p13.2 |
| ANGPTL7 | signal transduction; response to oxidative stress | 1p36 |
| ANGPTL8 | - | 19p13.2 |
| ANHX | - | 12q24.33 |
| ANK1 | exocytosis; cytoskeleton organization; signal transduction; axon guidance; maintenance of epithelial cell apical/basal polarity | 8p11.1 |
| ANK2 | signal transduction; axon guidance | 4q25-q27 |
| ANK3 | signal transduction; establishment of protein localization | 10q21 |
| ANKAR | - | 2q32.2 |
| ANKDD1A | signal transduction | 15q22.31 |
| ANKDD1B | signal transduction | 5q13.3 |
| ANKEF1 | - | 20p12.2 |
| ANKFN1 | - | 17q22 |
| ANKFY1 | - | 17p13.3 |
| ANKH | skeletal system development; transport; locomotory behavior; regulation of bone mineralization; inorganic diphosphate transport | 5p15.1 |
| ANKHD1 | - | 5q31.3 |
| ANKHD1-EIF4EBP3 | - | 5q31.3 |
| ANKIB1 | - | 7q21.2 |
| ANKK1 | - | 11q23.2 |
| ANKLE1 | - | 19p13.11 |
| ANKLE2 | - | 12q24.33 |
| ANKMY1 | - | 2q37.3 |
| ANKMY2 | - | 7p21 |
| ANKRA2 | - | 5q12-q13 |
| ANKRD1 | cellular response to mechanical stimulus; response to muscle stretch; positive regulation of apoptotic process; positive regulation of DNA damage response, signal transduction by p53 class mediator; cellular lipid metabolic process; small molecule metabolic process; sarcomere organization; positive regulation of transcription from RNA polymerase II promoter; positive regulation of protein secretion; cardiac muscle tissue morphogenesis; cellular response to lipopolysaccharide; cellular response to interleukin-1; cellular response to tumor necrosis factor; cellular response to transforming growth factor beta stimulus; negative regulation of DNA biosynthetic process | 10q23.31 |
| ANKRD10 | - | 13q34 |
| ANKRD10-IT1 | - | - |
| ANKRD11 | head morphogenesis; skeletal system morphogenesis; multicellular organism growth; tissue homeostasis; bone development; in utero embryonic development | 16q24.3 |
| ANKRD12 | - | 18p11.22 |
| ANKRD13A | - | 12q24.11 |
| ANKRD13B | - | 17q11.2 |
| ANKRD13C | protein retention in ER lumen; regulation of receptor biosynthetic process; regulation of anoikis | 1p32.3-p31.3 |
| ANKRD13D | - | 11q13.2 |
| ANKRD16 | - | 10p15.1 |
| ANKRD17 | interspecies interaction between organisms | 4q13.3 |
| ANKRD18A | - | 9p13.1 |
| ANKRD18B | - | 9p13.3 |
| ANKRD18CP | - | 9q22.33 |
| ANKRD18DP | - | 3q29 |
| ANKRD18EP | - | 6p21.2 |
| ANKRD19P | - | 9q22.31 |
| ANKRD2 | muscle organ development; muscle contraction | 10q23 |
| ANKRD20A1 | - | 9q13 |
| ANKRD20A10P | - | - |
| ANKRD20A11P | - | 21q11.2 |
| ANKRD20A12P | - | - |
| ANKRD20A19P | - | 13q12.12 |
| ANKRD20A2 | - | 9p12 |
| ANKRD20A20P | - | 9q21.11 |
| ANKRD20A3 | - | 9p12 |
| ANKRD20A4 | - | 9q21.11 |
| ANKRD20A5P | - | 18p11.21 |
| ANKRD20A6P | - | Yq11.1 |
| ANKRD20A7P | - | 9p11.2 |
| ANKRD20A8P | - | 2q11.1 |
| ANKRD20A9P | - | 13q11 |
| ANKRD22 | - | 10q23.31 |
| ANKRD23 | fatty acid metabolic process | 2q11.2 |
| ANKRD24 | - | 19p13.3 |
| ANKRD26 | - | 10p12.1 |
| ANKRD26P1 | - | 16q11.2 |
| ANKRD26P3 | - | 13q12.11 |
| ANKRD26P4 | - | - |
| ANKRD27 | early endosome to late endosome transport | 19q13.11 |
| ANKRD28 | - | 3p25.1 |
| ANKRD29 | - | 18q11.2 |
| ANKRD30A | regulation of transcription, DNA-dependent | 10p11.21 |
| ANKRD30B | - | 18p11.21 |
| ANKRD30BP2 | - | 21q11.2 |
| ANKRD30BP3 | - | 10q11.21 |
| ANKRD31 | - | 5q13.3 |
| ANKRD33 | - | 12q13.13 |
| ANKRD33B | - | 5p15.2 |
| ANKRD34A | - | 1q21.1 |
| ANKRD34B | - | 5q14.1 |
| ANKRD34C | - | 15q25.1 |
| ANKRD34C-AS1 | - | 15q25.1 |
| ANKRD35 | - | 1q21.1 |
| ANKRD36 | - | 2q11.2 |
| ANKRD36B | - | 2q11.2 |
| ANKRD36BP1 | - | 1q24.2 |
| ANKRD36BP2 | - | 2p11.2 |
| ANKRD36C | - | 2q11.1 |
| ANKRD36P1 | - | Yq11.23 |
| ANKRD37 | - | 4q35.1 |
| ANKRD39 | - | 2q11.2 |
| ANKRD40 | - | 17q21.33 |
| ANKRD42 | - | 11q14.1 |
| ANKRD44 | - | 2q33.1 |
| ANKRD44-IT1 | - | - |
| ANKRD45 | - | 1q25.1 |
| ANKRD46 | - | 8q22.2 |
| ANKRD49 | positive regulation of transcription, DNA-dependent | 11q21 |
| ANKRD50 | - | 4q28.1 |
| ANKRD52 | - | 12q13.3 |
| ANKRD53 | - | 2p13.3 |
| ANKRD54 | nucleocytoplasmic transport; cell cycle; regulation of intracellular protein kinase cascade; positive regulation of erythrocyte differentiation; regulation of protein kinase activity | 22q13.1 |
| ANKRD55 | - | 5q11.2 |
| ANKRD6 | - | 6q14.2-q16.1 |
| ANKRD62 | - | 18p11.21 |
| ANKRD62P1-PARP4P3 | - | 22q11.1 |
| ANKRD65 | - | 1p36.33 |
| ANKRD7 | male gonad development | 7q31 |
| ANKRD9 | - | 14q32.31 |
| ANKS1A | ephrin receptor signaling pathway; substrate-dependent cell migration; neuron remodeling | 6p21.31 |
| ANKS1B | - | 12q23.1 |
| ANKS3 | - | 16p13.3 |
| ANKS4B | - | 16p12.2 |
| ANKS6 | - | 9q22.33 |
| ANKUB1 | - | 3q25.1 |
| ANKZF1 | - | 2q35 |
| ANLN | regulation of exit from mitosis; cytokinesis; septin ring assembly; cell cycle; mitosis | 7p15-p14 |
| ANO1 | chloride transport; multicellular organismal development; trachea development; ion transmembrane transport | 11q13.3 |
| ANO1-AS1 | - | - |
| ANO10 | ion transport; cell death | 3p22.1 |
| ANO2 | chloride transport; ion transport; ion transmembrane transport | 12p13.3 |
| ANO3 | ion transport | 11p14.2 |
| ANO4 | ion transport | 12q23.1 |
| ANO5 | ion transport | 11p14.3 |
| ANO6 | activation of blood coagulation via clotting cascade; ion transport; phosphatidylserine exposure on blood platelet | 12q12 |
| ANO7 | ion transport | 2q37.3 |
| ANO8 | ion transport | 19p13.11 |
| ANO9 | ion transport | 11p15.5 |
| ANOS1 | cell adhesion; cellular component movement; chemotaxis; axon guidance | Xp22.32 |
| ANP32A | intracellular signal transduction; mRNA metabolic process; RNA metabolic process; gene expression; nucleocytoplasmic transport; regulation of transcription, DNA-dependent | 15q23 |
| ANP32A-IT1 | - | 15q23 |
| ANP32AP1 | - | 15q14 |
| ANP32B | - | 9q22.32 |
| ANP32BP2 | - | 22q13.31 |
| ANP32D | - | 12q13.11 |
| ANP32E | negative regulation of catalytic activity | 1q21.2 |
| ANPEP | interspecies interaction between organisms; negative regulation of renal sodium excretion; cell differentiation; metabolic process; multicellular organismal development; cellular aromatic compound metabolic process; proteolysis; angiogenesis | 15q25-q26 |
| ANTXR1 | actin cytoskeleton reorganization; substrate adhesion-dependent cell spreading | 2p13.1 |
| ANTXR2 | - | 4q21.21 |
| ANTXRL | - | 10q11.22 |
| ANTXRLP1 | - | 10q11.22 |
| ANXA1 | peptide cross-linking; cell cycle; insulin secretion; keratinocyte differentiation; response to interleukin-1; endocrine pancreas development; positive regulation of vesicle fusion; positive regulation of prostaglandin biosynthetic process; response to estradiol stimulus; gliogenesis; regulation of cell proliferation; response to drug; positive regulation of apoptotic process; negative regulation of apoptotic process; response to peptide hormone stimulus; alpha-beta T cell differentiation; arachidonic acid secretion; negative regulation of protein secretion; response to glucocorticoid stimulus; estrous cycle phase; cellular response to hydrogen peroxide; hepatocyte differentiation; response to X-ray; response to organic cyclic compound; negative regulation of acute inflammatory response; lipid metabolic process; anti-apoptosis; cellular component movement; inflammatory response; signal transduction; cell surface receptor signaling pathway | 9q21.13 |
| ANXA10 | - | 4q33 |
| ANXA11 | response to calcium ion; cell division; cytokinesis, completion of separation; phagocytosis; cell cycle | 10q23 |
| ANXA13 | cell differentiation | 8q24.13 |
| ANXA2 | angiogenesis; cellular response to acid; body fluid secretion; collagen fibril organization; positive regulation of vesicle fusion; fibrinolysis; positive regulation of binding; skeletal system development | 15q22.2 |
| ANXA2P1 | - | 4q31.3 |
| ANXA2P2 | angiogenesis; body fluid secretion; collagen fibril organization; fibrinolysis; positive regulation of binding; cellular response to acid | 9p13 |
| ANXA2P3 | - | 10q21.3 |
| ANXA2R | - | 5p12 |
| ANXA3 | positive regulation of endothelial cell migration; response to growth factor stimulus; response to glucocorticoid stimulus; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of DNA metabolic process; positive regulation of angiogenesis; neutrophil degranulation; defense response to bacterium; organ regeneration; hippocampus development; phagocytosis | 4q21.21 |
| ANXA4 | anti-apoptosis; signal transduction; negative regulation of coagulation | 2p13 |
| ANXA5 | blood coagulation; response to organic substance; positive regulation of apoptotic process; negative regulation of coagulation; protein homooligomerization; anti-apoptosis; signal transduction | 4q27 |
| ANXA6 | regulation of muscle contraction; calcium ion transport | 5q33.1 |
| ANXA7 | hemostasis; cell proliferation; regulation of cell shape; response to salt stress; cellular water homeostasis; social behavior; cellular calcium ion homeostasis | 10q22.2 |
| ANXA8 | blood coagulation | 10q11.22 |
| ANXA8L1 | - | 10q11.22 |
| ANXA9 | cell-cell adhesion | 1q21 |
| AOAH | lipid metabolic process; inflammatory response; lipopolysaccharide metabolic process; negative regulation of inflammatory response | 7p14-p12 |
| AOC1 | - | 7q36.1 |
| AOC2 | catecholamine metabolic process; visual perception; amine metabolic process | 17q21 |
| AOC3 | inflammatory response; cell adhesion; amine metabolic process; response to antibiotic | 17q21 |
| AOC4P | - | 17q21.31 |
| AOX1 | inflammatory response; reactive oxygen species metabolic process | 2q33 |
| AOX2P | - | 2q33.1 |
| AP1AR | protein transport | 4q25 |
| AP1B1 | intracellular protein transport; post-Golgi vesicle-mediated transport; endocytosis; viral reproduction; cellular membrane organization; regulation of defense response to virus by virus | 22q12.2 |
| AP1B1P1 | - | 22q12.3 |
| AP1B1P2 | - | 22q12.3 |
| AP1G1 | regulation of defense response to virus by virus; intracellular protein transport; post-Golgi vesicle-mediated transport; endocytosis; viral reproduction; cellular membrane organization | 16q23 |
| AP1G2 | interspecies interaction between organisms; vesicle-mediated transport; intracellular protein transport | 14q11.2 |
| AP1M1 | cellular membrane organization; interspecies interaction between organisms; endosome to melanosome transport; melanosome organization; vesicle-mediated transport; regulation of defense response to virus by virus; viral reproduction; post-Golgi vesicle-mediated transport; intracellular protein transport | 19p13.12 |
| AP1M2 | regulation of defense response to virus by virus; cellular membrane organization; viral reproduction; vesicle targeting; post-Golgi vesicle-mediated transport; protein targeting | 19p13.2 |
| AP1S1 | regulation of defense response to virus by virus; cellular membrane organization; viral reproduction; response to virus; receptor-mediated endocytosis; post-Golgi vesicle-mediated transport; intracellular protein transport | 7q22.1 |
| AP1S2 | post-Golgi vesicle-mediated transport; endocytosis; viral reproduction; cellular membrane organization; regulation of defense response to virus by virus; intracellular protein transport | Xp22.2 |
| AP1S3 | endocytosis; regulation of defense response to virus by virus; viral reproduction; cellular membrane organization; post-Golgi vesicle-mediated transport; intracellular protein transport | 2q36.1 |
| AP2A1 | intracellular protein transport; Golgi to endosome transport; endocytosis; epidermal growth factor receptor signaling pathway; synaptic transmission; axon guidance; viral reproduction; negative regulation of epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; regulation of defense response to virus by virus | 19q13.33 |
| AP2A2 | endocytosis; intracellular protein transport; epidermal growth factor receptor signaling pathway; synaptic transmission; axon guidance; viral reproduction; negative regulation of epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; regulation of defense response to virus by virus | 11p15.5 |
| AP2B1 | intracellular protein transport; regulation of defense response to virus by virus; nerve growth factor receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; vesicle-mediated transport; viral reproduction; axon guidance; synaptic transmission; epidermal growth factor receptor signaling pathway | 17q11.2-q12 |
| AP2M1 | synaptic transmission; regulation of defense response to virus by virus; nerve growth factor receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; vesicle-mediated transport; cellular membrane organization; viral reproduction; axon guidance; epidermal growth factor receptor signaling pathway; intracellular protein transport; transport | 3q28 |
| AP2S1 | protein transport; transport; intracellular protein transport; epidermal growth factor receptor signaling pathway; axon guidance; synaptic transmission; viral reproduction; vesicle-mediated transport; regulation of endocytosis; negative regulation of epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; clathrin coat assembly; regulation of defense response to virus by virus | 19q13.2-q13.3 |
| AP3B1 | endocytosis; antigen processing and presentation; melanosome organization; antigen processing and presentation, exogenous lipid antigen via MHC class Ib; positive regulation of NK T cell differentiation; intracellular protein transport; protein targeting to lysosome; blood coagulation | 5q14.1 |
| AP3B2 | intracellular protein transport; post-Golgi vesicle-mediated transport; endocytosis | 15q |
| AP3D1 | antigen processing and presentation; eye pigment biosynthetic process; intracellular protein transport; vesicle-mediated transport; protein localization to organelle; antigen processing and presentation, exogenous lipid antigen via MHC class Ib; synaptic vesicle membrane organization; positive regulation of NK T cell differentiation; regulation of sequestering of zinc ion | 19p13.3 |
| AP3M1 | protein targeting to lysosome; intracellular protein transport; vesicle-mediated transport | 10q22.2 |
| AP3M2 | vesicle-mediated transport; intracellular protein transport | 8p11.2 |
| AP3S1 | insulin receptor signaling pathway; vesicle-mediated transport; intracellular protein transport; transport | 5q22 |
| AP3S2 | intracellular protein transport; vesicle-mediated transport | 15q26.1 |
| AP4B1 | vesicle-mediated transport; intracellular protein transport; transport | 1p13.2 |
| AP4B1-AS1 | - | 1p13.2 |
| AP4E1 | vesicle-mediated transport; intracellular protein transport | 15q21.2 |
| AP4M1 | vesicle-mediated transport; intracellular protein transport | 7q22.1 |
| AP4S1 | transport | 14q12 |
| AP5B1 | protein transport | 11q13.1 |
| AP5M1 | vesicle-mediated transport; intracellular protein transport | 14q22.3 |
| AP5S1 | double-strand break repair via homologous recombination; DNA repair | 20p13 |
| AP5Z1 | cell death; DNA repair; double-strand break repair via homologous recombination | 7p22.2 |
| APAF1 | regulation of apoptotic process; intrinsic apoptotic signaling pathway; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; induction of apoptosis by intracellular signals; nervous system development; defense response; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process | 12q23 |
| APBA1 | locomotory behavior; protein complex assembly; intracellular protein transport; cell adhesion; synaptic transmission; in utero embryonic development; nervous system development; axon cargo transport; regulation of gene expression; glutamate secretion; gamma-aminobutyric acid secretion; multicellular organism growth | 9q13-q21.1 |
| APBA2 | nervous system development; protein transport | 15q11-q12 |
| APBA3 | intracellular signal transduction; protein transport; regulation of gene expression; synaptic transmission; in utero embryonic development | 19p13.3 |
| APBB1 | negative regulation of S phase of mitotic cell cycle; regulation of transcription, DNA-dependent; response to DNA damage stimulus; cell cycle arrest; signal transduction; axonogenesis; chromatin modification; negative regulation of cell growth; positive regulation of apoptotic process; histone H4 acetylation; positive regulation of transcription, DNA-dependent; negative regulation of thymidylate synthase biosynthetic process | 11p15 |
| APBB1IP | platelet activation; blood coagulation; signal transduction | 10p12.1 |
| APBB2 | cell cycle arrest; negative regulation of cell growth; regulation of transcription, DNA-dependent; intracellular signal transduction; negative regulation of S phase of mitotic cell cycle | 4p13 |
| APC | negative regulation of epithelial cell proliferation involved in prostate gland development; regulation of microtubule-based process; tight junction assembly; regulation of osteoblast differentiation; skin development; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of MAPK cascade; negative regulation of apoptotic process; positive regulation of apoptotic process; response to drug; negative regulation of odontogenesis; somatic stem cell maintenance; T cell differentiation in thymus; canonical Wnt receptor signaling pathway; retina development in camera-type eye; regulation of attachment of spindle microtubules to kinetochore; positive regulation of cell division; regulation of cell cycle; chromosome organization; regulation of nitrogen compound metabolic process; thymus development; muscle cell homeostasis; positive regulation of cell adhesion; negative regulation of cyclin-dependent protein kinase activity; positive regulation of protein catabolic process; regulation of | 5q21-q22 |
| APC2 | negative regulation of canonical Wnt receptor signaling pathway; negative regulation of catenin import into nucleus; Wnt receptor signaling pathway | 19p13.3 |
| APCDD1 | hair follicle development; negative regulation of Wnt receptor signaling pathway | 18p11.22 |
| APCDD1L | - | 20q13.32 |
| APCDD1L-AS1 | - | 20q13.32 |
| APEH | proteolysis | 3p21.31 |
| APELA | - | 4q32 |
| APEX1 | DNA repair; base-excision repair; DNA recombination; regulation of transcription, DNA-dependent; regulation of mRNA stability; positive regulation of DNA repair; positive regulation of anti-apoptosis; oxidation-reduction process; DNA demethylation | 14q11.2 |
| APEX2 | cell cycle; DNA repair; DNA recombination | Xp11.21 |
| APH1A | positive regulation of catalytic activity; nerve growth factor receptor signaling pathway; membrane protein intracellular domain proteolysis; protein processing; metanephros development; membrane protein ectodomain proteolysis; apoptotic process; Notch signaling pathway; induction of apoptosis by extracellular signals; metabolic process; Notch receptor processing; amyloid precursor protein catabolic process | 1p36.13-q31.3 |
| APH1B | nerve growth factor receptor signaling pathway; membrane protein intracellular domain proteolysis; positive regulation of catalytic activity; induction of apoptosis by extracellular signals; Notch receptor processing; Notch signaling pathway; apoptotic process; protein processing | 15q22.2 |
| API5 | apoptotic process; anti-apoptosis | 11p11.2 |
| API5P1 | - | Xq24 |
| API5P2 | - | 2q31.2 |
| APIP | polyamine metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; apoptotic process; cellular amino acid biosynthetic process; L-methionine salvage from methylthioadenosine; methionine biosynthetic process; sulfur amino acid metabolic process | 11p13 |
| APLF | single strand break repair; double-strand break repair; response to DNA damage stimulus | 2p13.3 |
| APLN | lactation; regulation of the force of heart contraction; immune response; signal transduction; positive regulation of corticotropin-releasing hormone secretion; positive regulation of corticotropin secretion; regulation of body fluid levels; positive regulation of vasodilation; negative regulation of blood pressure; regulation of respiratory gaseous exchange; drinking behavior; positive regulation of phosphorylation; positive regulation of heat generation; positive regulation of cell proliferation; negative regulation of vasoconstriction | Xq25 |
| APLNR | G-protein coupled receptor signaling pathway; regulation of body fluid levels | 11q12 |
| APLP1 | apoptotic process; negative regulation of cAMP biosynthetic process; forebrain development; cellular response to norepinephrine stimulus; extracellular matrix organization; organ morphogenesis; cell death; mRNA polyadenylation; regulation of translation; endocytosis; cell adhesion; inhibition of adenylate cyclase activity by G-protein signaling pathway; nervous system development | 19q13.1 |
| APLP2 | cellular copper ion homeostasis; regulation of epidermal growth factor-activated receptor activity; G-protein coupled receptor signaling pathway; mating behavior; suckling behavior; locomotory behavior; embryo development; extracellular matrix organization; forebrain development; midbrain development; neuromuscular process controlling balance | 11q24 |
| APMAP | - | 20p11.2 |
| APOA1 | cholesterol homeostasis; blood vessel endothelial cell migration; reverse cholesterol transport; lipoprotein biosynthetic process; lipoprotein metabolic process; high-density lipoprotein particle remodeling; high-density lipoprotein particle clearance; cellular lipid metabolic process; small molecule metabolic process; negative regulation of interleukin-1 beta secretion; protein stabilization; positive regulation of hydrolase activity; negative regulation of hydrolase activity; positive regulation of transferase activity; transmembrane transport; cholesterol import; high-density lipoprotein particle assembly; regulation of protein phosphorylation; endothelial cell proliferation; platelet degranulation; negative regulation of cytokine secretion involved in immune response; lipid metabolic process; phospholipid metabolic process; phosphatidylcholine biosynthetic process; cholesterol biosynthetic process; G-protein coupled receptor signaling pathway; blood coagulation; steroid metabolic process; cholesterol meta | 11q23-q24 |
| APOA1BP | - | 1q21 |
| APOA2 | response to estrogen stimulus; reverse cholesterol transport; cellular lipid metabolic process; cholesterol homeostasis; small molecule metabolic process; interspecies interaction between organisms; positive regulation of interleukin-8 biosynthetic process; diacylglycerol catabolic process; negative regulation of lipid catabolic process; positive regulation of lipid catabolic process; response to glucocorticoid stimulus; negative regulation of lipase activity; negative regulation of cholesterol import; negative regulation of cholesterol transporter activity; regulation of intestinal cholesterol absorption; acute inflammatory response; phospholipid catabolic process; response to drug; transport; phosphatidylcholine biosynthetic process; triglyceride metabolic process; lipid metabolic process; protein folding; cholesterol metabolic process; negative regulation of cytokine secretion involved in immune response; response to glucose stimulus; positive regulation of cholesterol esterification; organ regeneration; l | 1q23.3 |
| APOA4 | multicellular organismal lipid catabolic process; reverse cholesterol transport; hydrogen peroxide catabolic process; cholesterol homeostasis; phospholipid efflux; lipoprotein metabolic process; small molecule metabolic process; positive regulation of fatty acid biosynthetic process; phosphatidylcholine metabolic process; positive regulation of lipoprotein lipase activity; lipid homeostasis; protein-lipid complex assembly; negative regulation of plasma lipoprotein particle oxidation; innate immune response in mucosa; lipid metabolic process; transport; lipid transport; response to lipid hydroperoxide; leukocyte cell-cell adhesion; cholesterol metabolic process; positive regulation of cholesterol esterification; positive regulation of triglyceride catabolic process; removal of superoxide radicals; regulation of intestinal cholesterol absorption; regulation of cholesterol transport; cholesterol efflux; chylomicron remodeling; very-low-density lipoprotein particle remodeling; high-density lipoprotein particle re | 11q23 |
| APOA5 | cellular lipid metabolic process; triglyceride homeostasis; cholesterol homeostasis; tissue regeneration; acylglycerol homeostasis; small molecule metabolic process; positive regulation of fatty acid biosynthetic process; positive regulation of lipoprotein lipase activity; positive regulation of lipid catabolic process; positive regulation of receptor-mediated endocytosis; lipid transport; lipoprotein metabolic process; triglyceride-rich lipoprotein particle remodeling; triglyceride metabolic process; transport; organ regeneration; triglyceride catabolic process; positive regulation of very-low-density lipoprotein particle remodeling; positive regulation of triglyceride catabolic process; response to hormone stimulus | 11q23 |
| APOB | very-low-density lipoprotein particle assembly; sperm motility; response to lipopolysaccharide; low-density lipoprotein particle remodeling; positive regulation of cholesterol storage; cholesterol transport; triglyceride catabolic process; lipid catabolic process; regulation of cholesterol biosynthetic process; low-density lipoprotein particle clearance; lipoprotein metabolic process; lipoprotein biosynthetic process; lipoprotein catabolic process; cholesterol homeostasis; lipoprotein transport; small molecule metabolic process; transport; positive regulation of lipid storage; positive regulation of macrophage derived foam cell differentiation; response to selenium ion; post-embryonic development; response to carbohydrate stimulus; response to virus; fertilization; cholesterol metabolic process; steroid metabolic process; blood coagulation; nervous system development; spermatogenesis; receptor-mediated endocytosis; in utero embryonic development; lipid metabolic process; triglyceride mobilization; leukocyte m | 2p24-p23 |
| APOBEC1 | lipoprotein transport; negative regulation of methylation-dependent chromatin silencing; DNA demethylation; defense response to virus; response to calcium ion; mRNA stabilization; response to ethanol; response to drug; lipoprotein biosynthetic process; regulation of cell proliferation; mRNA modification; RNA processing; mRNA processing; lipid metabolic process; response to osmotic stress; cytidine deamination; response to zinc ion; response to gamma radiation; gene expression; cytidine to uridine editing; cellular response to insulin stimulus | 12p13.1 |
| APOBEC2 | mRNA modification; mRNA processing; cytidine deamination; DNA demethylation | 6p21 |
| APOBEC3A | DNA cytosine deamination; DNA demethylation; cellular response to xenobiotic stimulus; defense response to virus; cytidine deamination; negative regulation of transposition; clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine; negative regulation of viral genome replication; innate immune response | 22q13.1-q13.2 |
| APOBEC3B | negative regulation of transposition | 22q13.1-q13.2 |
| APOBEC3C | response to virus; negative regulation of transposition; interspecies interaction between organisms; DNA demethylation | 22q13.1 |
| APOBEC3D | negative regulation of transposition | 22q13.1 |
| APOBEC3F | cytidine deamination; negative regulation of transposition; response to virus; positive regulation of defense response to virus by host; base conversion or substitution editing; negative regulation of viral genome replication; innate immune response; negative regulation of viral reproduction; negative regulation of retroviral genome replication; DNA demethylation | 22q13.1 |
| APOBEC3G | positive regulation of defense response to virus by host; innate immune response; negative regulation of retroviral genome replication; negative regulation of viral reproduction; DNA cytosine deamination; negative regulation of viral genome replication; interspecies interaction between organisms; base conversion or substitution editing; response to virus; cytidine deamination; negative regulation of transposition; viral reproduction | 22q13.1-q13.2 |
| APOBEC3H | negative regulation of transposition; negative regulation of retroviral genome replication; negative regulation of viral reproduction; DNA cytosine deamination; cytidine deamination; response to virus | 22q13.1 |
| APOBEC4 | mRNA processing | 1q25.3 |
| APOBR | cholesterol metabolic process; steroid metabolic process; lipid transport; transport; triglyceride metabolic process | 16p11 |
| APOC1 | negative regulation of lipoprotein lipase activity; negative regulation of lipid catabolic process; negative regulation of receptor-mediated endocytosis; negative regulation of lipid metabolic process; negative regulation of fatty acid biosynthetic process; lipoprotein metabolic process; very-low-density lipoprotein particle clearance; chylomicron remnant clearance; very-low-density lipoprotein particle assembly; high-density lipoprotein particle remodeling; plasma lipoprotein particle remodeling; cholesterol efflux; phospholipid efflux; lipid metabolic process; triglyceride metabolic process; transport; cholesterol metabolic process; positive regulation of cholesterol esterification; negative regulation of very-low-density lipoprotein particle clearance; regulation of lipid transport; regulation of cholesterol transport; negative regulation of cholesterol transport; negative regulation of phosphatidylcholine catabolic process | 19q13.2 |
| APOC1P1 | - | 19q13.2 |
| APOC2 | chylomicron remodeling; very-low-density lipoprotein particle remodeling; chylomicron remnant clearance; high-density lipoprotein particle clearance; lipoprotein metabolic process; response to drug; cholesterol homeostasis; lipoprotein transport; reverse cholesterol transport; small molecule metabolic process; positive regulation of fatty acid biosynthetic process; negative regulation of lipid metabolic process; negative regulation of receptor-mediated endocytosis; positive regulation of lipoprotein lipase activity; positive regulation of phospholipid catabolic process; triglyceride homeostasis; phospholipid efflux; triglyceride-rich lipoprotein particle remodeling; lipid metabolic process; transport; lipid transport; positive regulation of phospholipase activity; positive regulation of triglyceride catabolic process; positive regulation of very-low-density lipoprotein particle remodeling; negative regulation of very-low-density lipoprotein particle clearance; lipid catabolic process; negative regulation of c | 19q13.2 |
| APOC3 | Cdc42 protein signal transduction; cholesterol efflux; phospholipid efflux; high-density lipoprotein particle remodeling; very-low-density lipoprotein particle assembly; chylomicron remnant clearance; lipoprotein metabolic process; cholesterol homeostasis; reverse cholesterol transport; transport; small molecule metabolic process; negative regulation of fatty acid biosynthetic process; negative regulation of lipid metabolic process; triglyceride homeostasis; negative regulation of cholesterol import; negative regulation of lipoprotein lipase activity; negative regulation of lipid catabolic process; negative regulation of receptor-mediated endocytosis; negative regulation of low-density lipoprotein particle clearance; triglyceride catabolic process; lipid metabolic process; triglyceride metabolic process; triglyceride mobilization; lipid transport; G-protein coupled receptor signaling pathway; cholesterol metabolic process; negative regulation of triglyceride catabolic process; negative regulation of very-low- | 11q23.3 |
| APOD | negative regulation of lipoprotein lipid oxidation; tissue regeneration; negative regulation of protein import into nucleus; response to drug; peripheral nervous system axon regeneration; negative regulation of smooth muscle cell proliferation; response to axon injury; negative regulation of focal adhesion assembly; negative regulation of monocyte chemotactic protein-1 production; negative regulation of cytokine production involved in inflammatory response; negative regulation of smooth muscle cell-matrix adhesion; negative regulation of T cell migration; aging; negative regulation of platelet-derived growth factor receptor signaling pathway; response to reactive oxygen species; angiogenesis; glucose metabolic process; lipid metabolic process; lipid transport; brain development | 3q26.2-qter |
| APOE | aging; low-density lipoprotein particle remodeling; cholesterol metabolic process; cell death; regulation of gene expression; negative regulation of platelet activation; positive regulation of cholesterol esterification; positive regulation of cholesterol efflux; peripheral nervous system axon regeneration; cGMP-mediated signaling; negative regulation of blood coagulation; regulation of axon extension; positive regulation of cGMP biosynthetic process; Cdc42 protein signal transduction; positive regulation of low-density lipoprotein particle receptor catabolic process; cholesterol efflux; phospholipid efflux; very-low-density lipoprotein particle remodeling; triglyceride metabolic process; very-low-density lipoprotein particle clearance; high-density lipoprotein particle clearance; chylomicron remnant clearance; high-density lipoprotein particle assembly; high-density lipoprotein particle remodeling; response to reactive oxygen species; negative regulation of endothelial cell proliferation; response to dietary | 19q13.2 |
| APOH | plasminogen activation; negative regulation of fibrinolysis; regulation of fibrinolysis; positive regulation of lipoprotein lipase activity; negative regulation of smooth muscle cell apoptosis; negative regulation of myeloid cell apoptosis; triglyceride transport; organ regeneration; negative regulation of blood coagulation; positive regulation of blood coagulation; negative regulation of endothelial cell proliferation; triglyceride metabolic process; blood coagulation, intrinsic pathway; negative regulation of endothelial cell migration; negative regulation of angiogenesis | 17q24.2 |
| APOL1 | lipid transport; steroid metabolic process; cholesterol metabolic process; cytolysis; killing of cells of other organism; lipoprotein metabolic process; innate immune response; chloride transport; transport | 22q13.1 |
| APOL2 | lipoprotein metabolic process; lipid metabolic process; transport; lipid transport; acute-phase response; multicellular organismal development; cholesterol metabolic process; maternal process involved in female pregnancy | 22q12 |
| APOL3 | signal transduction; lipoprotein metabolic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; transport; inflammatory response; lipid transport | 22q13.1 |
| APOL4 | transport; lipid transport; lipoprotein metabolic process; lipid metabolic process | 22q11.2-q13.2 |
| APOL5 | lipoprotein metabolic process; transport; lipid metabolic process; lipid transport | 22q12.3 |
| APOL6 | transport; lipoprotein metabolic process; lipid transport | 22q12.3 |
| APOLD1 | multicellular organismal development; lipid transport; response to hypoxia; angiogenesis; cell differentiation; endothelial cell activation; lipoprotein metabolic process; regulation of endothelial cell differentiation | 12p13.1 |
| APOM | negative regulation of plasma lipoprotein particle oxidation; lipoprotein metabolic process; cholesterol homeostasis; high-density lipoprotein particle clearance; reverse cholesterol transport; high-density lipoprotein particle assembly; high-density lipoprotein particle remodeling; cholesterol efflux; response to glucose stimulus; transport | 6p21.33 |
| APOO | transport; lipid transport | Xp22.11 |
| APOOL | - | Xq21.1 |
| APOOP1 | - | 5q33.3 |
| APOPT1 | positive regulation of smooth muscle cell apoptosis; induction of apoptosis by intracellular signals; positive regulation of release of cytochrome c from mitochondria; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 14q32.33 |
| APP | platelet activation; extracellular matrix organization; forebrain development; neuron projection development; ionotropic glutamate receptor signaling pathway; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; regulation of multicellular organism growth; innate immune response; negative regulation of neuron differentiation; positive regulation of mitotic cell cycle; positive regulation of transcription from RNA polymerase II promoter; collateral sprouting in absence of injury; regulation of synapse structure and activity; neuromuscular process controlling balance; synaptic growth at neuromuscular junction; neuron apoptosis; smooth endoplasmic reticulum calcium ion homeostasis; regulation of gene expression; cell adhesion; dendrite development; suckling behavior; platelet degranulation; mRNA polyadenylation; regulation of translation; protein phosphorylation; cellular copper ion homeostasis; endocytosis; induction of apoptosis; regulation of epidermal growth factor-activated | 21q21.3 |
| APPBP2 | intracellular protein transport; intracellular transport | 17q23.2 |
| APPL1 | regulation of establishment of protein localization in plasma membrane; cell cycle; signal transduction; cell proliferation; insulin receptor signaling pathway; regulation of apoptotic process; regulation of glucose import; apoptotic process | 3p21.1-p14.3 |
| APPL2 | cell proliferation; signal transduction; cell cycle | 12q24.1 |
| APRT | grooming behavior; nucleobase-containing small molecule metabolic process; small molecule metabolic process; purine-containing compound salvage; nucleoside metabolic process; adenine salvage; purine ribonucleoside salvage; purine base metabolic process; lactation | 16q24 |
| APTR | - | - |
| APTX | response to hydrogen peroxide; regulation of protein stability; cell death; response to DNA damage stimulus; double-strand break repair; single strand break repair | 9p13.3 |
| AQP1 | response to drug; negative regulation of apoptotic process; positive regulation of angiogenesis; positive regulation of saliva secretion; positive regulation of fibroblast proliferation; multicellular organismal water homeostasis; transmembrane transport; cellular response to hydrogen peroxide; cellular response to inorganic substance; cellular response to mechanical stimulus; cellular response to copper ion; cellular response to mercury ion; cellular response to retinoic acid; cellular response to cAMP; cellular response to hypoxia; potassium ion transport; cellular response to salt stress; cellular hyperosmotic response; cellular response to dexamethasone stimulus; cellular response to nitric oxide; potassium ion transmembrane transport; maintenance of symbiont-containing vacuole via substance secreted by host; carbon dioxide transmembrane transport; odontogenesis; renal water transport; cGMP biosynthetic process; water transport; cell volume homeostasis; carbon dioxide transport; ammonium transport; glycer | 7p14 |
| AQP10 | water transport; response to toxin; transmembrane transport | 1q21.3 |
| AQP11 | ion transport; protein homooligomerization; endosomal lumen acidification; urea transport; glycerol transport; water transport; kidney development | 11q14.1 |
| AQP12B | - | 2q37.3 |
| AQP2 | response to lithium ion; glycerol transport; actin filament depolymerization; response to lipopolysaccharide; response to glucagon stimulus; response to starvation; cellular response to water deprivation; response to calcium ion; positive regulation of calcium ion transport; transmembrane transport; cellular response to copper ion; cellular response to mercury ion; metanephric collecting duct development; response to salt stress; response to hormone stimulus; renal water transport; water transport; cell volume homeostasis; apoptotic process; hyperosmotic response; female pregnancy; aging; excretion | 12q12-q13 |
| AQP3 | renal water absorption; transmembrane transport; response to calcium ion; regulation of keratinocyte differentiation; odontogenesis; response to vitamin D; response to retinoic acid; urea transport; excretion; glycerol transport; positive regulation of immune system process; transport; water transport | 9p13 |
| AQP4 | transport; water transport; nervous system development; excretion; multicellular organismal water homeostasis; transmembrane transport; cellular response to interferon-gamma | 18q11.2-q12.1 |
| AQP4-AS1 | - | 18q11.2 |
| AQP5 | transmembrane transport; camera-type eye morphogenesis; saliva secretion; odontogenesis; pancreatic juice secretion; excretion; carbon dioxide transport; water transport | 12q13 |
| AQP6 | transport; water transport; excretion; odontogenesis; transmembrane transport | 12q13 |
| AQP7 | renal water absorption; transmembrane transport; response to drug; urea transport; generation of precursor metabolites and energy; water transport; spermatogenesis; excretion; glycerol transport | 9p13 |
| AQP7P1 | - | 9q13 |
| AQP7P2 | - | 9q21.11 |
| AQP8 | transmembrane transport; canalicular bile acid transport; water transport; transport; cellular response to cAMP | 16p12 |
| AQP9 | pyrimidine base transport; cellular response to cAMP; transmembrane transport; carboxylic acid transport; response to mercury ion; water homeostasis; amine transport; glycerol transport; polyol transport; response to organic substance; metabolic process; canalicular bile acid transport; excretion; response to osmotic stress; immune response; purine base transport; water transport; transport | 15q |
| AQR | nuclear mRNA splicing, via spliceosome; RNA splicing | 15q14 |
| AR | negative regulation of epithelial cell proliferation; male genitalia morphogenesis; organ formation; regulation of developmental growth; male sex differentiation; positive regulation of transcription from RNA polymerase III promoter; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of integrin biosynthetic process; regulation of establishment of protein localization in plasma membrane; negative regulation of integrin biosynthetic process; regulation of catalytic activity; positive regulation of NF-kappaB transcription factor activity; activation of prostate induction by androgen receptor signaling pathway; morphogenesis of an epithelial fold; lateral sprouting involved in mammary gland duct morphogenesis; regulation of prostatic bud formation; prostate gland growth; prostate gland epithelium morphogenesis; epithelial cell differentiation involved in prostate gland development; tertiary branching involved in mammary g | Xq12 |
| ARAF | protein modification process; protein phosphorylation; positive regulation of peptidyl-serine phosphorylation; intracellular signal transduction; negative regulation of apoptotic process | Xp11.4-p11.2 |
| ARAP1 | negative regulation of stress fiber assembly; actin filament reorganization involved in cell cycle; regulation of cellular component movement; regulation of ARF GTPase activity; regulation of cell shape; small GTPase mediated signal transduction; signal transduction; positive regulation of Cdc42 GTPase activity; regulation of small GTPase mediated signal transduction; positive regulation of filopodium assembly | 11q13.4 |
| ARAP3 | negative regulation of Rho protein signal transduction; positive regulation of Rho GTPase activity; negative regulation of Rac protein signal transduction; regulation of ARF GTPase activity; cytoskeleton organization; negative regulation of cell migration; vesicle-mediated transport; regulation of cell shape; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 5q31.3 |
| ARC | anterior/posterior pattern specification; cell migration; endocytosis; cytoskeleton organization; multicellular organismal development; endoderm development; regulation of cell morphogenesis; regulation of neuronal synaptic plasticity; learning | 8q24.3 |
| ARCN1 | COPI coating of Golgi vesicle; vesicle-mediated transport; cellular membrane organization; retrograde vesicle-mediated transport, Golgi to ER; intracellular protein transport; transport | 11q23.3 |
| AREG | - | 4q13.3 |
| AREL1 | - | 14q24.3 |
| ARF1 | regulation of defense response to virus by virus; GTP catabolic process; cellular copper ion homeostasis; retrograde vesicle-mediated transport, Golgi to ER; post-Golgi vesicle-mediated transport; small GTPase mediated signal transduction; protein transport; viral reproduction; cellular membrane organization; vesicle-mediated transport; COPI coating of Golgi vesicle | 1q42 |
| ARF1P3 | - | 8q24.13 |
| ARF3 | vesicle-mediated transport; GTP catabolic process; small GTPase mediated signal transduction; protein transport | 12q13 |
| ARF4 | GTP catabolic process; epidermal growth factor receptor signaling pathway; small GTPase mediated signal transduction; brain development; protein transport; vesicle-mediated transport; response to axon injury | 3p21.2-p21.1 |
| ARF4P3 | - | 13q32.3 |
| ARF4P4 | - | 13q31.1 |
| ARF5 | small GTPase mediated signal transduction; GTP catabolic process; protein transport; vesicle-mediated transport | 7q31.3 |
| ARF6 | positive regulation of actin filament polymerization; ruffle organization; cortical actin cytoskeleton organization; nervous system development; protein localization at cell surface; regulation of Rac protein signal transduction; negative regulation of receptor-mediated endocytosis; regulation of filopodium assembly; regulation of dendritic spine development; positive regulation of establishment of protein localization in plasma membrane; cell differentiation; vesicle-mediated transport; protein transport; liver development; GTP catabolic process; apoptotic process; cellular component movement; cell adhesion; small GTPase mediated signal transduction | 14q21.3 |
| ARFGAP1 | COPI coating of Golgi vesicle; regulation of ARF GTPase activity; endoplasmic reticulum unfolded protein response; vesicle-mediated transport; retrograde vesicle-mediated transport, Golgi to ER; activation of signaling protein activity involved in unfolded protein response; protein transport; cellular membrane organization | 20q13.33 |
| ARFGAP2 | protein transport; vesicle-mediated transport; regulation of ARF GTPase activity | 11p11.2-p11.12 |
| ARFGAP3 | vesicle-mediated transport; protein secretion; regulation of ARF GTPase activity; intracellular protein transport | 22q13.2 |
| ARFGEF1 | exocytosis; regulation of ARF protein signal transduction | 8q13 |
| ARFGEF2 | vesicle-mediated transport; regulation of ARF protein signal transduction; intracellular signal transduction; exocytosis | 20q13.13 |
| ARFGEF3 | negative regulation of phosphatase activity; regulation of ARF protein signal transduction | 6q23.3 |
| ARFIP1 | regulation of protein secretion; intracellular protein transport | 4q31.3 |
| ARFIP2 | ruffle organization; actin cytoskeleton organization; lamellipodium assembly; small GTPase mediated signal transduction; cellular component movement | 11p15 |
| ARFRP1 | protein localization in Golgi apparatus; retrograde transport, endosome to Golgi; Golgi to plasma membrane protein transport; gastrulation; small GTPase mediated signal transduction; signal transduction; GTP catabolic process | 20q13.3 |
| ARG1 | cellular response to lipopolysaccharide; urea cycle; liver development; positive regulation of endothelial cell proliferation; arginine catabolic process; response to herbicide; response to manganese ion; response to selenium ion; cellular response to transforming growth factor beta stimulus; cellular response to dexamethasone stimulus; response to zinc ion; cellular response to glucagon stimulus; cellular response to hydrogen peroxide; protein homotrimerization; maternal process involved in female pregnancy; mammary gland involution; response to methylmercury; response to axon injury; response to steroid hormone stimulus; small molecule metabolic process; response to peptide hormone stimulus; response to amino acid stimulus; response to drug; cellular nitrogen compound metabolic process; response to vitamin E; response to cadmium ion; regulation of L-arginine import; lung development; collagen biosynthetic process; response to vitamin A | 6q23 |
| ARG2 | response to hypoxia; ureteric bud development; urea cycle; nitric oxide biosynthetic process; regulation of nitric oxide biosynthetic process; negative regulation of striated muscle contraction; response to cadmium ion; response to mercury ion; response to axon injury; negative regulation of nitric-oxide synthase activity; maternal process involved in female pregnancy; cellular response to lipopolysaccharide; cellular response to interferon-gamma; cellular response to dexamethasone stimulus; arginine metabolic process; small molecule metabolic process; response to amino acid stimulus; response to drug; cellular nitrogen compound metabolic process; response to vitamin E; lung development; regulation of L-arginine import; response to selenium ion; response to hormone stimulus; response to herbicide; response to nutrient; midgut development; apoptotic process; response to glucose stimulus | 14q24.1 |
| ARGLU1 | regulation of transcription, DNA-dependent | 13q33.3 |
| ARHGAP1 | Rho protein signal transduction; regulation of small GTPase mediated signal transduction; regulation of GTPase activity; positive regulation of Rho GTPase activity; small GTPase mediated signal transduction; signal transduction | 11p11.2 |
| ARHGAP10 | regulation of small GTPase mediated signal transduction; filopodium assembly; regulation of apoptotic process; small GTPase mediated signal transduction; signal transduction; cytoskeleton organization; apoptotic process | 4q31.23 |
| ARHGAP11A | regulation of small GTPase mediated signal transduction; signal transduction; small GTPase mediated signal transduction | 15q13.2 |
| ARHGAP12 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 10p11.22 |
| ARHGAP15 | small GTPase mediated signal transduction; positive regulation of Rac GTPase activity; signal transduction; regulation of small GTPase mediated signal transduction; regulation of cell shape | 2q22.2-q22.3 |
| ARHGAP16P | - | 14q21.2 |
| ARHGAP17 | regulation of small GTPase mediated signal transduction; calcium ion-dependent exocytosis; small GTPase mediated signal transduction; signal transduction; actin filament organization | 16p12.1 |
| ARHGAP18 | small GTPase mediated signal transduction; signal transduction; regulation of small GTPase mediated signal transduction | 6q22.33 |
| ARHGAP19 | regulation of small GTPase mediated signal transduction; signal transduction; small GTPase mediated signal transduction | 10q24.1 |
| ARHGAP20 | small GTPase mediated signal transduction; signal transduction; regulation of small GTPase mediated signal transduction | 11q23.1 |
| ARHGAP21 | signal transduction | 10p12.1|10p12.3 |
| ARHGAP22 | signal transduction; regulation of small GTPase mediated signal transduction; cell differentiation; multicellular organismal development; small GTPase mediated signal transduction; regulation of transcription, DNA-dependent; angiogenesis | 10q11.22 |
| ARHGAP22-IT1 | - | 10q11.22 |
| ARHGAP23 | signal transduction | 17q12 |
| ARHGAP24 | cell differentiation; angiogenesis; multicellular organismal development; signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 4q22.1 |
| ARHGAP25 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 2p13.3 |
| ARHGAP26 | signal transduction; small GTPase mediated signal transduction; nervous system development; actin cytoskeleton organization; positive regulation of Rho GTPase activity; filopodium assembly; regulation of small GTPase mediated signal transduction | 5q31 |
| ARHGAP26-IT1 | - | - |
| ARHGAP27 | positive regulation of Cdc42 GTPase activity; positive regulation of Rac GTPase activity; signal transduction; receptor-mediated endocytosis | 17q21.31 |
| ARHGAP28 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 18p11.31 |
| ARHGAP29 | Rho protein signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; positive regulation of Rho GTPase activity | 1p22.1 |
| ARHGAP30 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 1q23.3 |
| ARHGAP31 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 3q13.33 |
| ARHGAP32 | signal transduction; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction | 11q24.3 |
| ARHGAP33 | protein transport; signal transduction | 19q13.12 |
| ARHGAP35 | signal transduction; transcription, DNA-dependent; small GTPase mediated signal transduction; axon guidance; positive regulation of Rho GTPase activity; regulation of small GTPase mediated signal transduction; negative regulation of transcription, DNA-dependent | 19q13.3 |
| ARHGAP36 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | Xq26.1 |
| ARHGAP39 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; axon guidance | 8q24.3 |
| ARHGAP4 | regulation of small GTPase mediated signal transduction; apoptotic process; cytoskeleton organization; signal transduction; small GTPase mediated signal transduction; Rho protein signal transduction; induction of apoptosis by extracellular signals; positive regulation of Rho GTPase activity; nerve growth factor receptor signaling pathway | Xq28 |
| ARHGAP40 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 20q11.23 |
| ARHGAP42 | filopodium assembly; signal transduction | 11q22.1 |
| ARHGAP42P1 | - | - |
| ARHGAP42P2 | - | 2q21.1 |
| ARHGAP42P4 | - | 14q11.2 |
| ARHGAP44 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 17p12 |
| ARHGAP5 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; Rho protein signal transduction; positive regulation of Rho GTPase activity; GTP catabolic process; cell adhesion | 14q12 |
| ARHGAP5-AS1 | - | 14q12 |
| ARHGAP6 | actin filament organization; signal transduction; activation of phospholipase C activity; small GTPase mediated signal transduction; Rho protein signal transduction; positive regulation of phospholipase activity; actin filament polymerization; positive regulation of Rho GTPase activity; regulation of GTPase activity; regulation of small GTPase mediated signal transduction; negative regulation of stress fiber assembly; negative regulation of focal adhesion assembly | Xp22.3 |
| ARHGAP8 | positive regulation of Rho GTPase activity; signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; positive regulation of ERK1 and ERK2 cascade | 22q13.31 |
| ARHGAP9 | small GTPase mediated signal transduction; signal transduction; regulation of small GTPase mediated signal transduction; positive regulation of GTPase activity | 12q13.3 |
| ARHGDIA | regulation of protein localization; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of axonogenesis; negative regulation of axonogenesis; positive regulation of axonogenesis; regulation of catalytic activity; Rho protein signal transduction; small GTPase mediated signal transduction; negative regulation of cell adhesion; cellular component movement; anti-apoptosis | 17q25.3 |
| ARHGDIB | small GTPase mediated signal transduction; actin cytoskeleton organization; negative regulation of cell adhesion; Rho protein signal transduction; multicellular organismal development; immune response; cellular component movement; regulation of small GTPase mediated signal transduction | 12p12.3 |
| ARHGDIG | regulation of small GTPase mediated signal transduction; Rho protein signal transduction; regulation of protein localization; regulation of catalytic activity; negative regulation of cell adhesion; small GTPase mediated signal transduction | 16p13.3 |
| ARHGEF1 | Rho protein signal transduction; termination of G-protein coupled receptor signaling pathway; regulation of Rho protein signal transduction; negative regulation of axonogenesis; nerve growth factor receptor signaling pathway; cell proliferation; regulation of axonogenesis | 19q13.13 |
| ARHGEF10 | myelination in peripheral nervous system; spindle assembly involved in mitosis; positive regulation of stress fiber assembly; centrosome duplication; regulation of Rho protein signal transduction; positive regulation of GTP catabolic process | 8p23 |
| ARHGEF10L | positive regulation of stress fiber assembly; positive regulation of transcription via sterol regulatory element binding; regulation of Rho protein signal transduction; positive regulation of Rho GTPase activity | 1p36.13 |
| ARHGEF11 | Rho protein signal transduction; apoptotic process; regulation of cell growth; cytokinesis; cellular component movement; striated muscle contraction; small GTPase mediated signal transduction; actin cytoskeleton organization; regulation of Rho protein signal transduction; termination of G-protein coupled receptor signaling pathway; positive regulation of transcription, DNA-dependent; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; establishment of cell polarity; induction of apoptosis by extracellular signals; axon guidance; G-protein coupled receptor signaling pathway | 1q21 |
| ARHGEF12 | apoptotic process; G-protein coupled receptor signaling pathway; small GTPase mediated signal transduction; axon guidance; induction of apoptosis by extracellular signals; regulation of Rho protein signal transduction; termination of G-protein coupled receptor signaling pathway; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction | 11q23.3 |
| ARHGEF15 | regulation of catalytic activity; regulation of Rho protein signal transduction; positive regulation of stress fiber assembly; negative regulation of synapse maturation | 17p13.1 |
| ARHGEF16 | positive regulation of establishment of protein localization in plasma membrane; nerve growth factor receptor signaling pathway; apoptotic process; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; regulation of Rho protein signal transduction; activation of Cdc42 GTPase activity; regulation of small GTPase mediated signal transduction; activation of Rac GTPase activity; cell chemotaxis | 1p36.3 |
| ARHGEF17 | regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; induction of apoptosis by extracellular signals; small GTPase mediated signal transduction; apoptotic process; actin cytoskeleton organization | 11q13.4 |
| ARHGEF18 | regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; apoptotic process; small GTPase mediated signal transduction; regulation of cell shape; induction of apoptosis by extracellular signals; actin cytoskeleton organization; regulation of Rho protein signal transduction | 19p13.3 |
| ARHGEF19 | regulation of Rho protein signal transduction; wound healing; positive regulation of Rho GTPase activity; regulation of actin cytoskeleton organization | 1p36.13 |
| ARHGEF2 | induction of apoptosis by extracellular signals; regulation of cell proliferation; intracellular signal transduction; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; negative regulation of neurogenesis; regulation of small GTPase mediated signal transduction; positive regulation of NF-kappaB transcription factor activity; cell division; establishment of mitotic spindle orientation; cell morphogenesis; intracellular protein transport; small GTPase mediated signal transduction; mitosis; cell cycle; negative regulation of microtubule depolymerization; apoptotic process; actin filament organization | 1q21-q22 |
| ARHGEF25 | regulation of Rho protein signal transduction | 12q13.3 |
| ARHGEF26 | regulation of Rho protein signal transduction | 3q25.2 |
| ARHGEF28 | - | 5q13.2 |
| ARHGEF3 | nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; induction of apoptosis by extracellular signals; apoptotic process; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; Rho protein signal transduction | 3p14.3 |
| ARHGEF33 | regulation of Rho protein signal transduction | 2p22.1 |
| ARHGEF34P | - | 7q35 |
| ARHGEF35 | - | 7q35 |
| ARHGEF37 | regulation of Rho protein signal transduction | 5q32 |
| ARHGEF38 | regulation of Rho protein signal transduction | 4q24 |
| ARHGEF39 | - | 9p13.3 |
| ARHGEF4 | regulation of Rho protein signal transduction; apoptotic process; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; lamellipodium assembly; intracellular signal transduction; filopodium assembly; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction | 2q22 |
| ARHGEF40 | regulation of Rho protein signal transduction | 14q11.2 |
| ARHGEF5 | regulation of Rho protein signal transduction; intracellular signal transduction | 7q35 |
| ARHGEF6 | induction of apoptosis by extracellular signals; nerve growth factor receptor signaling pathway; positive regulation of GTPase activity; regulation of Rho protein signal transduction; cell junction assembly; regulation of small GTPase mediated signal transduction; apoptotic process; JNK cascade; small GTPase mediated signal transduction | Xq26.3 |
| ARHGEF7 | positive regulation of apoptotic process; negative regulation of epidermal growth factor receptor signaling pathway; regulation of Rho protein signal transduction; nervous system development; induction of apoptosis by extracellular signals; epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction; apoptotic process | 13q34 |
| ARHGEF7-AS2 | - | - |
| ARHGEF7-IT1 | - | - |
| ARHGEF9 | transmembrane transport; apoptotic process; small GTPase mediated signal transduction; synaptic transmission; induction of apoptosis by extracellular signals; ion transmembrane transport; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction | Xq11.1 |
| ARHGEF9-IT1 | - | - |
| ARID1A | chromatin-mediated maintenance of transcription; chromatin organization; nucleosome disassembly; intracellular estrogen receptor signaling pathway; nervous system development; regulation of transcription from RNA polymerase II promoter; androgen receptor signaling pathway; nucleosome mobilization; glucocorticoid receptor signaling pathway; positive regulation of transcription, DNA-dependent; chromatin remodeling | 1p35.3 |
| ARID1B | regulation of transcription, DNA-dependent; nervous system development; chromatin modification; chromatin-mediated maintenance of transcription | 6q25.1 |
| ARID2 | nucleosome disassembly; regulation of transcription, DNA-dependent; chromatin modification | 12q12 |
| ARID3A | regulation of transcription, DNA-dependent | 19p13.3 |
| ARID3B | regulation of transcription, DNA-dependent | 15q24 |
| ARID3C | regulation of transcription, DNA-dependent | 9p13.3 |
| ARID4A | negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 14q23.1 |
| ARID4B | regulation of transcription, DNA-dependent | 1q42.1-q43 |
| ARID5A | negative regulation of transcription, DNA-dependent | 2q11.2 |
| ARID5B | muscle organ morphogenesis; positive regulation of sequence-specific DNA binding transcription factor activity; kidney development; liver development; nitrogen compound metabolic process; male gonad development; female gonad development; post-embryonic development; fibroblast migration; adrenal gland development; multicellular organism growth; skeletal system morphogenesis; palate development; adipose tissue development; face morphogenesis; fat pad development; negative regulation of transcription, DNA-dependent; platelet-derived growth factor receptor signaling pathway; cell development; fat cell differentiation | 10q21.2 |
| ARIH1 | ubiquitin-dependent protein catabolic process; protein ubiquitination; cytokine-mediated signaling pathway | 15q24 |
| ARIH2 | protein K63-linked ubiquitination; protein K48-linked ubiquitination; hemopoietic stem cell proliferation; developmental cell growth; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; multicellular organismal development; protein polyubiquitination | 3p21 |
| ARIH2OS | - | 3p21.31 |
| ARIH2P1 | - | 18q12.1 |
| ARL1 | toxin metabolic process; Golgi vesicle transport; retrograde transport, endosome to Golgi; protein localization in Golgi apparatus; activation of phospholipase D activity; small GTPase mediated signal transduction; Golgi organization; GTP catabolic process | 12q23.2 |
| ARL10 | small GTPase mediated signal transduction | 5q35.2 |
| ARL11 | small GTPase mediated signal transduction | 13q14.2 |
| ARL13A | small GTPase mediated signal transduction | Xq22.1 |
| ARL13B | small GTPase mediated signal transduction | 3q11.1 |
| ARL14 | small GTPase mediated signal transduction | 3q25.33 |
| ARL14EP | - | 11p14.1 |
| ARL14EPL | - | 5q23.1 |
| ARL15 | small GTPase mediated signal transduction | 5p15.2 |
| ARL16 | small GTPase mediated signal transduction | 17q25.3 |
| ARL17A | - | 17q21.31 |
| ARL17B | vesicle-mediated transport; protein transport; small GTPase mediated signal transduction | 17q21.31 |
| ARL2 | positive regulation of microtubule polymerization; centrosome organization; maintenance of protein location in nucleus; negative regulation of GTPase activity; tight junction assembly; regulation of microtubule polymerization; acetylcholine transport; small GTPase mediated signal transduction; cell cycle; tubulin complex assembly; GTP catabolic process; positive regulation of cell-substrate adhesion | 11q13 |
| ARL2BP | signal transduction; maintenance of protein location in nucleus; positive regulation of tyrosine phosphorylation of Stat3 protein | 16q13 |
| ARL2BPP4 | - | 5q23.3 |
| ARL3 | small GTPase mediated signal transduction; cilium morphogenesis; photoreceptor cell development; protein transport; cell cycle; kidney development; cytokinesis | 10q23.3 |
| ARL4A | brown fat cell differentiation; small GTPase mediated signal transduction | 7p21.3 |
| ARL4C | endocytic recycling; small GTPase mediated signal transduction; transport; GTP catabolic process | 2q37.1 |
| ARL4D | protein secretion; small GTPase mediated signal transduction; GTP catabolic process | 17q21.31 |
| ARL4P2 | - | 4p14 |
| ARL5A | small GTPase mediated signal transduction | 2q23.3 |
| ARL5AP2 | - | 10q24.2 |
| ARL5AP4 | - | 22q11.2 |
| ARL5B | small GTPase mediated signal transduction | 10p12.31 |
| ARL5B-AS1 | - | - |
| ARL5C | small GTPase mediated signal transduction | 17q12 |
| ARL6 | protein targeting to membrane; cell projection organization; melanosome transport; cilium assembly; response to stimulus; protein polymerization; Wnt receptor signaling pathway; visual perception; determination of left/right symmetry; small GTPase mediated signal transduction | 3q11.2 |
| ARL6IP1 | cotranslational protein targeting to membrane | 16p12-p11.2 |
| ARL6IP4 | RNA splicing | 12q24.31 |
| ARL6IP5 | negative regulation of transport; L-glutamate transport | 3p14 |
| ARL6IP6 | - | 2q23.3 |
| ARL8A | cell division; GTP catabolic process; cell cycle; chromosome segregation; mitosis; small GTPase mediated signal transduction | 1q32.1 |
| ARL8B | small GTPase mediated signal transduction; cell division; chromosome segregation; cell cycle; GTP catabolic process | 3p26.1 |
| ARL9 | small GTPase mediated signal transduction | 4q12 |
| ARMC1 | metal ion transport | 8q13.1 |
| ARMC10 | regulation of growth | 7q22.1 |
| ARMC10P1 | - | 3q11.2 |
| ARMC12 | - | 6p21.31 |
| ARMC2 | - | 6q21 |
| ARMC3 | - | 10p12.31 |
| ARMC4 | - | 10p12.1-p11.23 |
| ARMC5 | - | 16p11.2 |
| ARMC6 | - | 19p13.11 |
| ARMC7 | - | 17q25.1 |
| ARMC8 | - | 3q22.3 |
| ARMC9 | - | 2q37.1 |
| ARMCX1 | - | Xq21.33-q22.2 |
| ARMCX2 | - | Xq21.33-q22.2 |
| ARMCX3 | - | Xq22.1 |
| ARMCX4 | - | Xq22.1 |
| ARMCX5 | - | Xq22.1-q22.3 |
| ARMCX6 | - | Xq21.33-q22.3 |
| ARMT1 | - | 6q25.1 |
| ARNT | response to hypoxia; embryonic placenta development; positive regulation of endothelial cell proliferation; transcription, DNA-dependent; regulation of transcription, DNA-dependent; positive regulation vascular endothelial growth factor production; cell differentiation; positive regulation of vascular endothelial growth factor receptor signaling pathway; mRNA transcription from RNA polymerase II promoter; positive regulation of protein sumoylation; positive regulation of hormone biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of glycolysis; positive regulation of erythrocyte differentiation; regulation of transcription from RNA polymerase II promoter in response to oxidative stress | 1q21 |
| ARNT2 | response to hypoxia; in utero embryonic development; regulation of transcription, DNA-dependent; central nervous system development; positive regulation of cell proliferation; response to estradiol stimulus; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of apoptotic process | 15q24 |
| ARNTL | circadian rhythm; positive regulation of transcription from RNA polymerase II promoter | 11p15 |
| ARNTL2 | regulation of transcription, DNA-dependent; entrainment of circadian clock; circadian rhythm; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter | 12p12.2-p11.2 |
| ARNTL2-AS1 | - | 12p11.23 |
| ARPC1A | regulation of actin filament polymerization; actin cytoskeleton organization | 7q22.1 |
| ARPC1B | regulation of actin filament polymerization; cellular component movement | 7q22.1 |
| ARPC2 | cellular component movement; positive regulation of actin filament polymerization | 2q36.1 |
| ARPC3 | cellular component movement; regulation of actin filament polymerization | 12q24.11 |
| ARPC3P1 | - | 20q13.13 |
| ARPC3P5 | - | 6p22.3 |
| ARPC4 | actin nucleation; actin filament polymerization | 3p25.3 |
| ARPC5 | regulation of actin filament polymerization; actin cytoskeleton organization; cellular component movement | 1q25.3 |
| ARPC5L | regulation of actin filament polymerization | 9q33.3 |
| ARPIN | - | 15q26.1 |
| ARPP19 | positive regulation of gluconeogenesis; cell cycle; G2/M transition of mitotic cell cycle; mitosis; positive regulation of glucose import; cell division | 15q21.2 |
| ARPP21 | cellular response to heat | 3p22.3 |
| ARR3 | regulation of protein phosphorylation; endocytosis; signal transduction; visual perception; response to stimulus | Xcen-q21 |
| ARRB1 | post-Golgi vesicle-mediated transport; negative regulation of signal transduction; blood coagulation; cellular membrane organization; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; G-protein coupled receptor internalization; protein transport; protein ubiquitination; positive regulation of ERK1 and ERK2 cascade; positive regulation of transcription from RNA polymerase II promoter; histone H4 acetylation; positive regulation of GTPase activity; proteasomal ubiquitin-dependent protein catabolic process; stress fiber assembly; negative regulation of catalytic activity; positive regulation of histone acetylation; positive regulation of Rho protein signal transduction; negative regulation of interleukin-8 production; negative regulation of interleukin-6 production; negative regulation of NF-kappaB transcription factor activity; negative regulation of protein ubiquitination; platelet activation | 11q13 |
| ARRB2 | blood coagulation; G-protein coupled receptor internalization; desensitization of G-protein coupled receptor protein signaling pathway by arrestin; transcription from RNA polymerase II promoter; signal transduction; negative regulation of NF-kappaB transcription factor activity; platelet activation; negative regulation of protein ubiquitination; protein ubiquitination; protein transport; negative regulation of signal transduction; transforming growth factor beta receptor signaling pathway; receptor internalization; proteasomal ubiquitin-dependent protein catabolic process; negative regulation of natural killer cell mediated cytotoxicity; cell chemotaxis; positive regulation of ERK1 and ERK2 cascade | 17p13 |
| ARRDC1 | - | 9q34.3 |
| ARRDC1-AS1 | - | 9q34.3 |
| ARRDC2 | - | 19p13.11 |
| ARRDC3 | signal transduction | 5q14.3 |
| ARRDC3-AS1 | - | 5q14.3 |
| ARRDC4 | signal transduction | 15q26.3 |
| ARRDC5 | signal transduction | 19p13.3 |
| ARSA | glycosphingolipid metabolic process; binding of sperm to zona pellucida; small molecule metabolic process; sphingolipid metabolic process | 22q13.33 |
| ARSB | response to nutrient; response to pH; response to estrogen stimulus; response to methylmercury; lysosomal transport; central nervous system development; lysosome organization; autophagy | 5q14.1 |
| ARSD | - | Xp22.3 |
| ARSD-AS1 | - | - |
| ARSDP1 | - | Yq11.21 |
| ARSE | skeletal system development | Xp22.3 |
| ARSEP1 | - | Yq11.21 |
| ARSF | - | Xp22.3 |
| ARSG | sulfur compound metabolic process | 17q24.2 |
| ARSH | - | Xp22.33 |
| ARSI | - | 5q32 |
| ARSJ | - | 4q26 |
| ARSK | - | 5q15 |
| ART1 | innate immune response; protein ADP-ribosylation | 11p15 |
| ART3 | protein ADP-ribosylation | 4q21.1|4p15.1-p14 |
| ART4 | arginine metabolic process; protein ADP-ribosylation | 12p13-p12 |
| ARTN | neuroblast proliferation; axon guidance; signal transduction | 1p33-p32 |
| ARV1 | sphingolipid metabolic process; lipid metabolic process | 1q42.2 |
| ARVCF | cell adhesion; multicellular organismal development | 22q11.21 |
| ARVP6125 | - | 3q22.1 |
| ARX | cell proliferation in forebrain; positive regulation of organ growth; regulation of cell proliferation; cell differentiation; neuron migration; multicellular organismal development; nervous system development; axon guidance; globus pallidus development; olfactory bulb development; cerebral cortex tangential migration; embryonic olfactory bulb interneuron precursor migration; cerebral cortex GABAergic interneuron migration | Xp21.3 |
| AS3MT | response to arsenic-containing substance; arsonoacetate metabolic process; toxin metabolic process | 10q24.32 |
| ASAH1 | sphingolipid metabolic process; glycosphingolipid metabolic process; ceramide metabolic process; lipid metabolic process; small molecule metabolic process | 8p22 |
| ASAH2 | small molecule metabolic process; sphingolipid metabolic process; lipid metabolic process; glycosphingolipid metabolic process; ceramide metabolic process; apoptotic process; signal transduction | 10q11.21 |
| ASAH2B | - | 10q11.23 |
| ASAP1 | filopodium assembly; cilium morphogenesis; regulation of ARF GTPase activity; cell projection organization; signal transduction | 8q24.1-q24.2 |
| ASAP1-IT1 | - | 8q24.21 |
| ASAP1-IT2 | - | - |
| ASAP2 | positive regulation of catalytic activity; regulation of ARF GTPase activity | 2p25|2p24 |
| ASAP3 | regulation of ARF GTPase activity | 1p36.12 |
| ASB1 | multicellular organismal development; male genitalia development; intracellular signal transduction; negative regulation of cytokine biosynthetic process | 2q37 |
| ASB10 | intracellular signal transduction | 7q36.1 |
| ASB11 | intracellular signal transduction | Xp22.31 |
| ASB12 | intracellular signal transduction | Xq11.2 |
| ASB13 | intracellular signal transduction | 10p15.1 |
| ASB14 | intracellular signal transduction | 3p21.1 |
| ASB15 | intracellular signal transduction | 7q31.31 |
| ASB16 | intracellular signal transduction | 17q21.31 |
| ASB16-AS1 | - | 17q21.31 |
| ASB17 | intracellular signal transduction | 1p31.1 |
| ASB18 | intracellular signal transduction | 2q37.2 |
| ASB2 | intracellular signal transduction; signal transduction | 14q31-q32 |
| ASB3 | intracellular signal transduction | 2p16.2 |
| ASB4 | intracellular signal transduction | 7q21-q22 |
| ASB5 | intracellular signal transduction | 4q34.2 |
| ASB6 | intracellular signal transduction | 9q34.13 |
| ASB7 | intracellular signal transduction | 15q26.3 |
| ASB8 | intracellular signal transduction | 12q13.11 |
| ASB9 | protein ubiquitination; intracellular signal transduction; positive regulation of protein catabolic process | Xp22.2 |
| ASCC1 | regulation of transcription, DNA-dependent | 10pter-q25.3 |
| ASCC2 | regulation of transcription, DNA-dependent | 22q12.1 |
| ASCC3 | regulation of transcription, DNA-dependent | 6q16 |
| ASCL1 | negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sympathetic nervous system development; positive regulation of neuron apoptosis; neuron fate specification; positive regulation of neurogenesis; response to folic acid; subpallium neuron fate commitment; regulation of timing of subpallium neuron differentiation; olfactory pit development; lung epithelial cell differentiation; lung neuroendocrine cell differentiation; stomach neuroendocrine cell differentiation; carotid body glomus cell differentiation; adrenal chromaffin cell differentiation; response to epidermal growth factor stimulus; cellular response to magnetism; positive regulation of neuron differentiation; neuron migration; noradrenergic neuron fate commitment; Notch signaling pathway; pattern specification process; neuroblast fate determination; positive regulation of Notch signaling pathway; neuroblast proliferation; response to lithium ion; oligodendrocyte development; spinal | 12q23.2 |
| ASCL2 | central nervous system development; spongiotrophoblast layer development; spongiotrophoblast differentiation; somatic stem cell maintenance; negative regulation of Schwann cell proliferation; peripheral nervous system development; negative regulation of transcription from RNA polymerase II promoter; response to hypoxia; in utero embryonic development; placenta development; transcription, DNA-dependent; cell differentiation; regulation of transcription, DNA-dependent; multicellular organismal development | 11p15.5 |
| ASF1A | negative regulation of chromatin silencing; DNA repair; chromatin modification; chromatin assembly or disassembly; regulation of transcription, DNA-dependent; nucleosome assembly | 6q22.31 |
| ASF1B | nucleosome assembly; chromatin assembly or disassembly; regulation of transcription, DNA-dependent; multicellular organismal development; spermatogenesis; chromatin modification; cell differentiation | 19p13.12 |
| ASGR1 | receptor-mediated endocytosis; cellular response to extracellular stimulus | 17p13.2 |
| ASGR2 | regulation of protein stability; lipid homeostasis; bone mineralization; glycoprotein metabolic process; cell surface receptor signaling pathway; endocytosis | 17p |
| ASH1L | regulation of transcription, DNA-dependent; DNA packaging; transcription from RNA polymerase II promoter; cell-cell signaling; chromatin modification | 1q22 |
| ASH1L-AS1 | - | 1q22 |
| ASH2L | positive regulation of transcription from RNA polymerase II promoter; histone H3-K4 methylation; transcription, DNA-dependent; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; response to DNA damage stimulus; positive regulation of cell proliferation; chromatin modification; hemopoiesis; response to estrogen stimulus | 8p11.2 |
| ASIC1 | signal transduction; response to pH; calcium ion transport; sodium ion transport; ion transport; transport | 12q12 |
| ASIC2 | ion transport; synaptic transmission; central nervous system development; peripheral nervous system development; monovalent inorganic cation transport | 17q12 |
| ASIC3 | transport; ion transport; signal transduction; sensory perception; sodium ion transmembrane transport | 7q35 |
| ASIC4 | sodium ion export; ion transport; transport | 2q35 |
| ASIC5 | ion transport | 4q32.1 |
| ASIP | melanosome transport; genetic imprinting; pigmentation; regulation of molecular function, epigenetic; melanin biosynthetic process; melanosome organization; hormone-mediated signaling pathway; adult feeding behavior; cell-cell signaling; signal transduction; generation of precursor metabolites and energy | 20q11.2-q12 |
| ASL | cellular response to dexamethasone stimulus; cellular response to hypoxia; cellular response to glucagon stimulus; cellular response to tumor necrosis factor; cellular response to interferon-gamma; cellular response to cAMP; cellular response to ammonium ion; diaphragm development; response to growth hormone stimulus; response to steroid hormone stimulus; small molecule metabolic process; response to drug; arginine biosynthetic process via ornithine; response to lipopolysaccharide; urea cycle; argininosuccinate metabolic process; response to acid; kidney development; liver development; internal protein amino acid acetylation; arginine catabolic process; midgut development; aging; response to nutrient; locomotory behavior; cellular amino acid biosynthetic process; post-embryonic development; response to zinc ion; response to amine stimulus; ammonia assimilation cycle; cellular nitrogen compound metabolic process | 7q11.21 |
| ASMT | indolalkylamine biosynthetic process; translation; melatonin biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process | Xp22.3 or Yp11.3 |
| ASMTL | - | Xp22.3; Yp11.3 |
| ASMTL-AS1 | - | Xp22.33; Yp11.32 |
| ASNA1 | detoxification of arsenic-containing substance; transport; arsenite transport | 19q13.3 |
| ASNS | cellular response to glucose starvation; positive regulation of mitotic cell cycle; small molecule metabolic process; response to amino acid stimulus; negative regulation of apoptotic process; cellular nitrogen compound metabolic process; response to follicle-stimulating hormone stimulus; liver development; asparagine biosynthetic process; glutamine metabolic process; activation of signaling protein activity involved in unfolded protein response; cellular amino acid biosynthetic process; response to light stimulus; response to mechanical stimulus; response to toxin; endoplasmic reticulum unfolded protein response; response to methotrexate; response to nutrient levels; cellular response to hormone stimulus | 7q21.3 |
| ASNSD1 | asparagine biosynthetic process; glutamine metabolic process; cellular amino acid biosynthetic process | 2p24.3-q21.3 |
| ASNSP1 | - | 8q11.1 |
| ASNSP3 | - | 13q32 |
| ASPA | metabolic process; central nervous system myelination; positive regulation of oligodendrocyte differentiation; aspartate catabolic process | 17p13.3 |
| ASPDH | NADP catabolic process; NAD biosynthetic process; pyridine nucleotide biosynthetic process | 19q13.33 |
| ASPG | cellular amino acid metabolic process; lipid catabolic process | 14q32.33 |
| ASPH | pattern specification process; palate development; peptidyl-aspartic acid hydroxylation; limb morphogenesis; peptidyl-amino acid modification; negative regulation of cell proliferation; face morphogenesis; muscle contraction | 8q12.1 |
| ASPHD1 | peptidyl-amino acid modification | 16p11.2 |
| ASPHD2 | peptidyl-amino acid modification | 22q12.1 |
| ASPM | cell division; cell cycle; mitosis; forebrain neuroblast division; negative regulation of neuron differentiation; negative regulation of asymmetric cell division; maintenance of centrosome location | 1q31 |
| ASPN | bone mineralization; negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of tooth mineralization | 9q22 |
| ASPRV1 | skin development; proteolysis; protein processing | 2p13.3 |
| ASPSCR1 | intracellular protein transport; glucose homeostasis; regulation of glucose import | 17q25.3 |
| ASRGL1 | protein maturation; asparagine catabolic process via L-aspartate | 11q12.3 |
| ASS1 | response to growth hormone stimulus; diaphragm development; response to fatty acid; cellular response to lipopolysaccharide; cellular response to amino acid stimulus; cellular response to ammonium ion; cellular response to cAMP; cellular response to interferon-gamma; cellular response to tumor necrosis factor; cellular response to glucagon stimulus; cellular response to oleic acid; cellular response to dexamethasone stimulus; small molecule metabolic process; response to steroid hormone stimulus; urea cycle; argininosuccinate metabolic process; kidney development; liver development; arginine biosynthetic process; acute-phase response; midgut development; aging; response to nutrient; response to biotic stimulus; response to glucocorticoid stimulus; response to drug; cellular nitrogen compound metabolic process; response to estradiol stimulus; response to mycotoxin; cellular amino acid biosynthetic process; response to zinc ion | 9q34.1 |
| ASS1P1 | - | 6p22.3 |
| ASS1P10 | - | 5q32 |
| ASS1P11 | - | 7p15.3 |
| ASS1P12 | - | 9p21.1 |
| ASS1P13 | - | 11q22.3 |
| ASS1P2 | - | 2p22.1 |
| ASS1P4 | - | Xp22.33 |
| ASS1P5 | - | Xq23 |
| ASS1P6 | - | Yq11.21 |
| ASS1P7 | - | 3q26.32 |
| ASS1P8 | - | 4q31.22 |
| ASS1P9 | - | 5q11.2 |
| ASTE1 | DNA repair | 3q22.1 |
| ASTL | proteolysis | 2q11.1 |
| ASTN1 | cell migration; neuron cell-cell adhesion; cell adhesion | 1q25.2 |
| ASTN2 | - | 9q33.1 |
| ASTN2-AS1 | - | 9q33.1 |
| ASUN | regulation of mitotic cell cycle; sperm motility; cell division; regulation of fertilization; cell cycle; mitosis | 12p11.23 |
| ASXL1 | regulation of transcription, DNA-dependent; chromatin modification | 20q11 |
| ASXL2 | regulation of transcription, DNA-dependent | 2p24.1 |
| ASXL3 | regulation of transcription, DNA-dependent | 18q11 |
| ASZ1 | multicellular organismal development; spermatogenesis; cell differentiation; gene silencing by RNA; piRNA metabolic process; signal transduction; male meiosis; DNA methylation involved in gamete generation | 7q31.2 |
| ATAD1 | negative regulation of synaptic transmission, glutamatergic; positive regulation of receptor internalization; ATP catabolic process; learning; memory | 10q23.31 |
| ATAD2 | regulation of transcription, DNA-dependent | 8q24.13 |
| ATAD2B | - | 2p24.1-p23.3 |
| ATAD3A | cell growth; negative regulation of apoptotic process | 1p36.33 |
| ATAD3B | - | 1p36.33 |
| ATAD3C | - | 1p36.33 |
| ATAD5 | response to DNA damage stimulus | 17q11.2 |
| ATAT1 | - | 6p21.33 |
| ATCAY | transport | 19p13.3 |
| ATE1 | protein arginylation | 10q26.13 |
| ATF1 | stress-activated MAPK cascade; response to cobalt ion; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; cellular protein complex assembly; innate immune response; positive regulation of DNA replication; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; response to organic cyclic compound; positive regulation of neuron projection development; Toll signaling pathway; regulation of transcription, DNA-dependent; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway | 12q13 |
| ATF2 | regulation of transcription from RNA polymerase II promoter; stress-activated MAPK cascade; regulation of sequence-specific DNA binding transcription factor activity; fat cell differentiation; innate immune response; TRIF-dependent toll-like receptor signaling pathway; adipose tissue development; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; positive regulation of transforming growth factor beta2 production; Toll signaling pathway; response to osmotic stress; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; outflow tract morphogenesis; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway | 2q32 |
| ATF3 | gluconeogenesis; regulation of transcription, DNA-dependent; positive regulation of cell proliferation; endoplasmic reticulum unfolded protein response; negative regulation of transcription, DNA-dependent; activation of signaling protein activity involved in unfolded protein response | 1q32.3 |
| ATF4 | gluconeogenesis; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; cellular amino acid metabolic process; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response; response to endoplasmic reticulum stress; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 22q13.1 |
| ATF4P3 | - | 17q25.1 |
| ATF5 | negative regulation of astrocyte differentiation; negative regulation of neurogenesis; regulation of transcription from RNA polymerase II promoter; anti-apoptosis | 19q13.3 |
| ATF6 | regulation of transcription from RNA polymerase II promoter; protein folding; response to stress; endoplasmic reticulum unfolded protein response; signal transduction; positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response; activation of signaling protein activity involved in unfolded protein response; response to unfolded protein | 1q22-q23 |
| ATF6B | transcription, DNA-dependent; regulation of transcription, DNA-dependent; response to unfolded protein; signal transduction | 6p21.3 |
| ATF7 | regulation of transcription, DNA-dependent; interspecies interaction between organisms | 12q13 |
| ATF7IP | interspecies interaction between organisms; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; DNA methylation; regulation of RNA polymerase II transcriptional preinitiation complex assembly; negative regulation of transcription from RNA polymerase II promoter | 12p13.1 |
| ATF7IP2 | regulation of transcription, DNA-dependent | 16p13.13 |
| ATG10 | protein lipidation; autophagy in response to ER overload; protein modification by small protein conjugation; autophagy; positive regulation of protein modification process; protein transport | 5q14.1 |
| ATG101 | autophagic vacuole assembly; autophagy | 12q13.13 |
| ATG12 | autophagy; autophagic vacuole assembly; innate immune response; negative regulation of type I interferon production | 5q21-q22 |
| ATG12P1 | - | 17q25.1 |
| ATG12P2 | - | - |
| ATG13 | autophagic vacuole assembly; autophagy | 11p11.2 |
| ATG14 | autophagic vacuole assembly; positive regulation of autophagy | 14q22.3 |
| ATG16L1 | autophagic vacuole assembly; autophagy; protein transport; protein homooligomerization | 2q37.1 |
| ATG16L2 | autophagy; protein transport | 11q13.4 |
| ATG2A | - | 11q13.1 |
| ATG2B | - | 14q32.2 |
| ATG3 | mitochondrial fragmentation involved in apoptosis; protein ubiquitination; protein transport; autophagy; protein targeting to membrane; protein modification process; autophagic vacuole assembly | 3q13.2 |
| ATG4A | proteolysis; autophagy; protein transport | Xq22.1-q22.3 |
| ATG4B | protein transport; autophagy; proteolysis; autophagic vacuole assembly | 2q37.3 |
| ATG4C | autophagic vacuole assembly; proteolysis; autophagy; protein transport; protein targeting to membrane | 1p31.3 |
| ATG4D | proteolysis; autophagy; protein transport | 19p13.2 |
| ATG5 | otolith development; autophagic vacuole assembly; response to drug; vasodilation; negative regulation of type I interferon production; blood vessel remodeling; negative regulation of apoptotic process; post-translational protein modification; innate immune response; ventricular cardiac muscle cell development; heart contraction; autophagy; negative regulation of protein ubiquitination | 6q21 |
| ATG7 | neurological system process; negative regulation of apoptotic process; response to starvation; cardiac muscle cell development; central nervous system neuron axonogenesis; pyramidal neuron development; cerebral cortex development; protein catabolic process; neuron projection development; regulation of protein ubiquitination; positive regulation of protein modification process; protein modification by small protein conjugation; cerebellar Purkinje cell layer development; protein modification process; protein transport; adult walking behavior; organelle organization; cellular membrane fusion; autophagy; cellular amino acid metabolic process; protein lipidation; liver development; post-embryonic development | 3p25.3 |
| ATG9A | autophagic vacuole assembly; autophagy; protein transport | 2q35 |
| ATG9B | autophagy; autophagic vacuole assembly | 7q36.1 |
| ATHL1 | carbohydrate metabolic process | 11p15.5 |
| ATIC | small molecule metabolic process; organ regeneration; purine ribonucleoside monophosphate biosynthetic process; purine nucleotide biosynthetic process; purine base metabolic process; nucleobase-containing compound metabolic process; nucleobase-containing small molecule metabolic process | 2q35 |
| ATL1 | endoplasmic reticulum organization; GTP catabolic process; protein homooligomerization; cell death; axonogenesis | 14q22.1 |
| ATL2 | GTP catabolic process; protein homooligomerization; Golgi organization; ER to Golgi vesicle-mediated transport; endoplasmic reticulum organization | 2p22.3 |
| ATL3 | endoplasmic reticulum organization; protein homooligomerization; Golgi organization; GTP catabolic process; ER to Golgi vesicle-mediated transport | 11q13.1 |
| ATM | response to ionizing radiation; peptidyl-serine phosphorylation; negative regulation of B cell proliferation; female gamete generation; G2/M transition DNA damage checkpoint; DNA damage response, signal transduction resulting in induction of apoptosis; cell death; heart development; brain development; DNA repair; phosphatidylinositol-3-phosphate biosynthetic process; lipoprotein catabolic process; positive regulation of apoptotic process; negative regulation of apoptotic process; positive regulation of DNA damage response, signal transduction by p53 class mediator; positive regulation of neuron apoptosis; protein autophosphorylation; regulation of cell cycle; histone mRNA catabolic process; cellular response to gamma radiation; reciprocal meiotic recombination; replicative senescence; cell cycle checkpoint; double-strand break repair via homologous recombination; response to hypoxia; somitogenesis; pre-B cell allelic exclusion; double-strand break repair; response to DNA damage stimulus; DNA damage induced pr | 11q22-q23 |
| ATMIN | response to DNA damage stimulus | 16q23.2 |
| ATN1 | cell migration; maintenance of cell polarity; regulation of neuron differentiation; toxin metabolic process; cell death; central nervous system development; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; neuron apoptosis | 12p13.31 |
| ATOH1 | transcription from RNA polymerase II promoter; axon guidance; multicellular organismal development; apoptotic process; auditory receptor cell fate determination; central nervous system development; brain development; cerebral cortex development; inner ear morphogenesis; auditory receptor cell fate specification; regulation of transcription, DNA-dependent; neuron migration; positive regulation of auditory receptor cell differentiation; positive regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter | 4q22 |
| ATOH8 | multicellular organismal development; regulation of transcription, DNA-dependent; cell differentiation; nervous system development | 2p11.2 |
| ATOX1 | ion transport; copper ion transport; cellular copper ion homeostasis; response to oxidative stress; metal ion transport | 5q32 |
| ATP10A | transmembrane transport; cation transport; phospholipid translocation; ion transmembrane transport; regulation of cell shape | 15q11.2 |
| ATP10B | phospholipid translocation; cation transport | 5q34 |
| ATP10D | ion transmembrane transport; phospholipid translocation; transmembrane transport; cation transport | 4p12 |
| ATP11A | cation transport; phospholipid translocation | 13q34 |
| ATP11A-AS1 | - | - |
| ATP11B | ion transmembrane transport; phospholipid translocation; transmembrane transport; aminophospholipid transport; ion transport; cation transport | 3q27 |
| ATP11C | phospholipid translocation; ion transmembrane transport; cation transport; transmembrane transport | Xq27.1 |
| ATP12A | potassium ion transport; transmembrane transport; ion transmembrane transport; proton transport; ATP biosynthetic process | 13q12.12|13q12.1-q12.3 |
| ATP13A1 | cation transport | 19p13.11 |
| ATP13A2 | cation transport | 1p36 |
| ATP13A3 | cation transport | 3q29 |
| ATP13A4 | cation transport; ATP biosynthetic process | 3q29 |
| ATP13A5 | cation transport; ATP biosynthetic process | 3q29 |
| ATP13A5-AS1 | - | - |
| ATP1A1 | ATP biosynthetic process; transmembrane transport; positive regulation of striated muscle contraction; positive regulation of heart contraction; negative regulation of heart contraction; response to drug; ion transmembrane transport; negative regulation of glucocorticoid biosynthetic process; dephosphorylation; regulation of blood pressure; potassium ion transport; ATP catabolic process; regulation of sodium ion transport; regulation of the force of heart contraction; sodium ion export | 1p21 |
| ATP1A1-AS1 | - | 1p13.1 |
| ATP1A2 | regulation of vasoconstriction; ATP hydrolysis coupled proton transport; regulation of blood pressure; visual learning; adult locomotory behavior; negative regulation of striated muscle contraction; ion transmembrane transport; locomotion; negative regulation of heart contraction; transmembrane transport; reduction of cytosolic calcium ion concentration; regulation of smooth muscle contraction; sodium ion transport; potassium ion transport; ATP biosynthetic process; regulation of respiratory gaseous exchange by neurological system process; regulation of the force of heart contraction; neurotransmitter uptake; regulation of striated muscle contraction | 1q23.2 |
| ATP1A4 | transmembrane transport; ion transmembrane transport; regulation of cellular pH; sperm motility; ATP hydrolysis coupled proton transport; sodium ion transport; potassium ion transport; ATP biosynthetic process | 1q23.2 |
| ATP1B1 | response to hypoxia; ATP biosynthetic process; transport; potassium ion transport; sodium ion transport; leukocyte migration; ion transmembrane transport; blood coagulation; transmembrane transport | 1q24 |
| ATP1B1P1 | - | 4p13 |
| ATP1B2 | transmembrane transport; leukocyte migration; ATP metabolic process; ion transmembrane transport; blood coagulation; sodium ion transport; potassium ion transport; transport | 17p13.1 |
| ATP1B3 | transport; potassium ion transport; sodium ion transport; blood coagulation; ion transmembrane transport; ATP metabolic process; leukocyte migration; transmembrane transport | 3q23 |
| ATP1B3P1 | - | 2p16.1 |
| ATP1B4 | regulation of transcription, DNA-dependent; transport; potassium ion transport; sodium ion transport; monovalent inorganic cation transport; ATP metabolic process | Xq24 |
| ATP2A1 | blood coagulation; reduction of endoplasmic reticulum calcium ion concentration; elevation of endoplasmic reticulum calcium ion concentration; positive regulation of fast-twitch skeletal muscle fiber contraction; apoptotic mitochondrial changes; ATP catabolic process; ATP biosynthetic process; cation transport; calcium ion transport; regulation of striated muscle contraction; ion transmembrane transport; response to endoplasmic reticulum stress; negative regulation of striated muscle contraction; elevation of mitochondrial calcium ion concentration; maintenance of mitochondrion location; transmembrane transport; apoptosis in response to endoplasmic reticulum stress; calcium ion import; relaxation of skeletal muscle | 16p12.1 |
| ATP2A1-AS1 | - | 16p11.2 |
| ATP2A2 | ATP biosynthetic process; ion transmembrane transport; transport; cation transport; cell adhesion; blood coagulation; epidermis development; transmembrane transport; sarcoplasmic reticulum calcium ion transport | 12q24.11 |
| ATP2A3 | transport; transmembrane transport; ion transmembrane transport; blood coagulation; calcium ion transport; cation transport; ATP biosynthetic process | 17p13.3 |
| ATP2B1 | calcium ion transmembrane transport; transmembrane transport; ion transmembrane transport; blood coagulation; cation transport; transport; ATP biosynthetic process | 12q21.3 |
| ATP2B2 | blood coagulation; cation transport; calcium ion transport; organelle organization; brain development; lactation; cell morphogenesis; sensory perception of sound; locomotory behavior; regulation of cell size; cerebellum development; cerebellar Purkinje cell layer morphogenesis; cerebellar Purkinje cell differentiation; cerebellar granule cell differentiation; neuron differentiation; ion transmembrane transport; locomotion; serotonin metabolic process; inner ear morphogenesis; ATP biosynthetic process; cochlea development; calcium ion transmembrane transport; inner ear receptor cell differentiation; auditory receptor cell stereocilium organization; transmembrane transport; positive regulation of calcium ion transport; cytosolic calcium ion homeostasis; detection of mechanical stimulus involved in sensory perception of sound; neuromuscular process controlling balance; synapse organization; regulation of synaptic plasticity; cGMP metabolic process; otolith mineralization; neural retina development; ATP catabolic | 3p25.3 |
| ATP2B2-IT2 | - | - |
| ATP2B3 | transport; ATP biosynthetic process; cation transport; blood coagulation; ion transmembrane transport; transmembrane transport; calcium ion transmembrane transport | Xq28 |
| ATP2B4 | neural retina development; ATP biosynthetic process; transport; cation transport; blood coagulation; ion transmembrane transport; transmembrane transport; calcium ion transmembrane transport | 1q32.1 |
| ATP2C1 | signal transduction; Golgi calcium ion transport; ion transmembrane transport; positive regulation of I-kappaB kinase/NF-kappaB cascade; transmembrane transport; Golgi calcium ion homeostasis; manganese ion transport; calcium ion transport; cation transport; ATP biosynthetic process; cellular calcium ion homeostasis; epidermis development; calcium-dependent cell-cell adhesion; cellular manganese ion homeostasis; actin cytoskeleton reorganization | 3q22.1 |
| ATP2C2 | cation transport; transmembrane transport; ion transmembrane transport; calcium ion transport; ATP biosynthetic process | 16q24.1 |
| ATP4A | ATP catabolic process; ATP biosynthetic process; transport; potassium ion transport; regulation of proton transport; ATP hydrolysis coupled proton transport; ion transmembrane transport; response to drug; pH reduction; transmembrane transport | 19q13.1 |
| ATP4B | potassium ion transport; sodium ion transport; response to organic nitrogen; proton transport; response to lipopolysaccharide; ion transmembrane transport; ATP metabolic process; transmembrane transport | 13q34 |
| ATP5A1 | negative regulation of endothelial cell proliferation; ADP biosynthetic process; ATP catabolic process; lipid metabolic process; ATP biosynthetic process; embryo development; ATP hydrolysis coupled proton transport; proton transport; respiratory electron transport chain; ion transmembrane transport; mitochondrial ATP synthesis coupled proton transport; small molecule metabolic process | 18q21 |
| ATP5A1P2 | - | 2q24.1 |
| ATP5A1P3 | - | 16q22.2 |
| ATP5B | generation of precursor metabolites and energy; angiogenesis; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; proton transport; ATP hydrolysis coupled proton transport; regulation of intracellular pH; negative regulation of cell adhesion involved in substrate-bound cell migration; receptor-mediated endocytosis; ion transport; transport; ATP biosynthetic process; lipid metabolic process; ATP catabolic process; ADP biosynthetic process | 12q13.13 |
| ATP5BP1 | - | 2q11.2 |
| ATP5C1 | oxidative phosphorylation; ATP catabolic process; ATP biosynthetic process; ion transport; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; proton transport | 10p15.1 |
| ATP5C1P1 | - | 14q22.2 |
| ATP5D | mitochondrial ATP synthesis coupled proton transport; small molecule metabolic process; respiratory electron transport chain; oxidative phosphorylation; ADP biosynthetic process; ATP catabolic process; ATP biosynthetic process; ion transport; proton transport; response to copper ion | 19p13.3 |
| ATP5E | ATP catabolic process; ion transport; proton transport; respiratory electron transport chain; mitochondrial ATP synthesis coupled proton transport; small molecule metabolic process | 20q13.32 |
| ATP5EP2 | proton transport; ion transport; ATP synthesis coupled proton transport | 13q12 |
| ATP5F1 | ATP catabolic process; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; ATP synthesis coupled proton transport; ion transport | 1p13.2 |
| ATP5F1P5 | - | 11q24.1 |
| ATP5F1P6 | - | 6q24.1 |
| ATP5F1P7 | - | 16q23.1 |
| ATP5G1 | respiratory electron transport chain; transport; ion transport; ATP hydrolysis coupled proton transport; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport | 17q21.32 |
| ATP5G1P1 | - | 14q32.33 |
| ATP5G1P4 | - | 3q26.31 |
| ATP5G1P5 | - | 13q33.3 |
| ATP5G1P6 | - | 18q21.3 |
| ATP5G1P7 | - | 10q22.1 |
| ATP5G1P8 | - | 10q22.3 |
| ATP5G2 | transport; ion transport; ATP synthesis coupled proton transport; ATP hydrolysis coupled proton transport | 12q13.13 |
| ATP5G2P1 | - | 1q32.2 |
| ATP5G2P3 | - | 2q33.1 |
| ATP5G2P4 | - | Xp11.4 |
| ATP5G3 | ATP hydrolysis coupled proton transport; response to ethanol; ATP synthesis coupled proton transport; aging; ion transport; transport | 2q31.1 |
| ATP5H | ion transport; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; ATP catabolic process | 17q25 |
| ATP5HP1 | - | 15q15.2 |
| ATP5I | ATP catabolic process; ion transport; respiratory electron transport chain; mitochondrial ATP synthesis coupled proton transport; small molecule metabolic process | 4p16.3 |
| ATP5J | ATP catabolic process; transport; ion transport; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; small molecule metabolic process | 21q21.1 |
| ATP5J2 | ATP biosynthetic process; proton transport; ion transport; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; ATP catabolic process; respiratory electron transport chain | 7q22.1 |
| ATP5J2LP | - | 21q22.13 |
| ATP5J2P3 | - | 9q21.2 |
| ATP5JP1 | - | Yp11.2 |
| ATP5L | small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; ion transport; ATP catabolic process | 11q23.3 |
| ATP5L2 | ATP synthesis coupled proton transport; ion transport | 22q13.2 |
| ATP5LP1 | - | 11q13.1 |
| ATP5LP2 | - | 6q22.31 |
| ATP5LP6 | - | - |
| ATP5O | ATP catabolic process; ATP biosynthetic process; ion transport; proton transport; respiratory electron transport chain; mitochondrial ATP synthesis coupled proton transport; small molecule metabolic process; transmembrane transport | 21q22.11 |
| ATP5S | proton transport; ATP biosynthetic process; ion transport | 14q21.3 |
| ATP5SL | - | 19q13.2 |
| ATP6 | - | - |
| ATP6AP1 | ion transport; proton transport; ATP hydrolysis coupled proton transport; cell death; aging | Xq28 |
| ATP6AP1L | ATP hydrolysis coupled proton transport | 5q14.2 |
| ATP6AP2 | angiotensin maturation; positive regulation of transforming growth factor beta1 production; regulation of MAPK cascade | Xp11.4 |
| ATP6V0A1 | ion transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; transmembrane transport; transferrin transport | 17q21 |
| ATP6V0A2 | transmembrane transport; transferrin transport; insulin receptor signaling pathway; immune response; cellular iron ion homeostasis; ion transport; ATP hydrolysis coupled proton transport | 12q24.31 |
| ATP6V0A4 | insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; transferrin transport; transmembrane transport; sensory perception of sound; excretion; regulation of pH; cellular iron ion homeostasis; ion transport; ossification | 7q34 |
| ATP6V0B | ion transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; transferrin transport; transmembrane transport | 1p32.3 |
| ATP6V0C | ATP hydrolysis coupled proton transport; transmembrane transport; interspecies interaction between organisms; transferrin transport; proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; ion transport | 16p13.3 |
| ATP6V0D1 | proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; brain development; activation of signaling protein activity involved in unfolded protein response; cellular iron ion homeostasis; ATP catabolic process; transmembrane transport; ion transmembrane transport; transferrin transport; endoplasmic reticulum unfolded protein response | 16q22.1 |
| ATP6V0D2 | ion transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; transferrin transport; transmembrane transport | - |
| ATP6V0E1 | cellular iron ion homeostasis; ion transport; transport; insulin receptor signaling pathway; transmembrane transport; transferrin transport; cell growth; proton transport; ATP hydrolysis coupled proton transport; vacuolar acidification | 5q35.1 |
| ATP6V0E2 | cellular iron ion homeostasis; vacuolar acidification; transmembrane transport; transferrin transport; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; cell growth; ion transport | 7q36.1 |
| ATP6V0E2-AS1 | - | 7q36.1 |
| ATP6V1A | insulin receptor signaling pathway; ATP metabolic process; transmembrane transport; transferrin transport; transport; ion transport; cellular iron ion homeostasis; ATP hydrolysis coupled proton transport; proton transport | 3q13.31 |
| ATP6V1B1 | transmembrane transport; calcium ion homeostasis; ATP metabolic process; insulin receptor signaling pathway; pH reduction; inner ear morphogenesis; ion transmembrane transport; transferrin transport; sensory perception of sound; excretion; regulation of pH; cellular iron ion homeostasis; ossification; proton transport; ATP hydrolysis coupled proton transport | 2p13.1 |
| ATP6V1B2 | transmembrane transport; ATP metabolic process; transferrin transport; proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; ion transport | 8p21.3 |
| ATP6V1C1 | insulin receptor signaling pathway; transmembrane transport; ion transmembrane transport; ATP catabolic process; transport; cellular iron ion homeostasis; ATP hydrolysis coupled proton transport; proton transport; transferrin transport | 8q22.3 |
| ATP6V1C2 | ATP catabolic process; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; transferrin transport; ion transmembrane transport; transmembrane transport | - |
| ATP6V1D | transmembrane transport; proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; ion transport; transferrin transport | 14q23-q24.2 |
| ATP6V1E1 | ion transport; transferrin transport; proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; transmembrane transport | 22q11.1 |
| ATP6V1E1P1 | - | 1p34.2 |
| ATP6V1E2 | transferrin transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; ion transport; transmembrane transport | 2p21 |
| ATP6V1F | transferrin transport; transmembrane transport; ion transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport | 7q32 |
| ATP6V1G1 | transmembrane transport; ion transmembrane transport; proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; transferrin transport | 9q32 |
| ATP6V1G2 | cellular iron ion homeostasis; transmembrane transport; transferrin transport; proton transport; insulin receptor signaling pathway; ion transport | 6p21.3 |
| ATP6V1G3 | ATP catabolic process; cellular iron ion homeostasis; insulin receptor signaling pathway; proton transport; transferrin transport; transmembrane transport; ion transmembrane transport | 1q31.3 |
| ATP6V1H | ATP catabolic process; ion transport; cellular iron ion homeostasis; endocytosis; vacuolar acidification; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; transmembrane transport; regulation of catalytic activity; viral reproduction; regulation of defense response to virus by virus; transferrin transport; interspecies interaction between organisms | 8q11.2 |
| ATP7A | T-helper cell differentiation; epinephrine metabolic process; norepinephrine metabolic process; peptidyl-lysine modification; dopamine metabolic process; hindlimb morphogenesis; ion transmembrane transport; hair follicle morphogenesis; collagen fibril organization; extracellular matrix organization; metal ion transport; central nervous system neuron development; pyramidal neuron development; cerebellar Purkinje cell differentiation; removal of superoxide radicals; elastin biosynthetic process; norepinephrine biosynthetic process; serotonin metabolic process; positive regulation of catalytic activity; pigmentation; neuroprotection; skin development; ATP metabolic process; elastic fiber assembly; lung alveolus development; negative regulation of metalloenzyme activity; positive regulation of metalloenzyme activity; neuron projection morphogenesis; dendrite morphogenesis; cartilage development; positive regulation of oxidoreductase activity; regulation of gene expression; copper ion export; transmembrane transpo | Xq21.1 |
| ATP7B | ATP catabolic process; ATP biosynthetic process; copper ion transport; cellular copper ion homeostasis; cellular zinc ion homeostasis; lactation; copper ion import; intracellular copper ion transport; metal ion transport; ion transmembrane transport; response to copper ion; sequestering of calcium ion; transmembrane transport; copper ion export | 13q14.3 |
| ATP8A1 | ion transmembrane transport; cation transport; aminophospholipid transport; phospholipid translocation; transmembrane transport | 4p13 |
| ATP8A2 | phospholipid transport; negative regulation of cell proliferation; cation transport | 13q12 |
| ATP8A2P1 | - | - |
| ATP8A2P3 | - | - |
| ATP8B1 | transmembrane transport; ATP catabolic process; cation transport; bile acid metabolic process; bile acid and bile salt transport; ion transmembrane transport; phospholipid translocation; negative regulation of transcription, DNA-dependent | 18q21.31 |
| ATP8B2 | transmembrane transport; ATP catabolic process; cation transport; phospholipid transport; ion transmembrane transport | 1q21.3 |
| ATP8B3 | cation transport; binding of sperm to zona pellucida; phospholipid transport; phospholipid translocation; ATP catabolic process | 19p13.3 |
| ATP8B4 | phospholipid transport; cation transport | 15q21.2 |
| ATP8B5P | - | 9p13.3 |
| ATP9A | phospholipid translocation; cation transport | 20q13.2 |
| ATP9B | establishment of protein localization in Golgi; cation transport; aminophospholipid transport; phospholipid translocation | 18q23 |
| ATPAF1 | protein complex assembly | 1p33-p32.3 |
| ATPAF2 | proton-transporting ATP synthase complex assembly | 17p11.2 |
| ATPIF1 | negative regulation of catalytic activity; regulation of apoptotic process; generation of precursor metabolites and energy; negative regulation of endothelial cell proliferation; angiogenesis; negative regulation of nucleotide metabolic process; protein homooligomerization; protein homotetramerization; negative regulation of hydrolase activity; reactive oxygen species metabolic process | 1p35.3 |
| ATR | cell cycle checkpoint; regulation of protein binding; positive regulation of DNA damage response, signal transduction by p53 class mediator; protein autophosphorylation; replicative senescence; cellular response to UV; cellular response to gamma radiation; DNA damage checkpoint; peptidyl-serine phosphorylation; negative regulation of DNA replication; multicellular organismal development; cell cycle; response to DNA damage stimulus; protein phosphorylation; DNA repair; DNA replication | 3q23 |
| ATRAID | - | 2p23.3 |
| ATRIP | DNA repair; DNA replication; DNA damage checkpoint; cell cycle checkpoint | 3p21.31 |
| ATRN | pigmentation; inflammatory response; response to oxidative stress; regulation of multicellular organism growth | 20p13 |
| ATRNL1 | G-protein coupled receptor signaling pathway | 10q26 |
| ATRX | DNA duplex unwinding; forebrain development; regulation of transcription, DNA-dependent; DNA recombination; DNA methylation; DNA repair | Xq21.1 |
| ATXN1 | adult locomotory behavior; regulation of excitatory postsynaptic membrane potential; nuclear export; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of insulin-like growth factor receptor signaling pathway; negative regulation of phosphorylation; visual learning; cell death; RNA processing | 6p23 |
| ATXN10 | neuron projection development; cell death; nervous system development | 22q13.31 |
| ATXN1L | regulation of transcription, DNA-dependent | 16q22.2 |
| ATXN2 | homeostasis of number of cells; RNA transport; neuromuscular process; neuron projection morphogenesis; negative regulation of multicellular organism growth; stress granule assembly; cerebellar Purkinje cell differentiation; RNA metabolic process; regulation of translation; cell death; cytoplasmic mRNA processing body assembly | 12q24.1 |
| ATXN2L | - | 16p11 |
| ATXN3 | synaptic transmission; intermediate filament cytoskeleton organization; actin cytoskeleton organization; regulation of cell-substrate adhesion; cell death; nervous system development; proteolysis; regulation of transcription, DNA-dependent; nucleotide-excision repair; microtubule cytoskeleton organization | 14q21 |
| ATXN3L | regulation of transcription, DNA-dependent; proteolysis; protein deubiquitination | Xp22.2 |
| ATXN7 | regulation of transcription, DNA-dependent; nucleus organization; visual perception; cell death; histone deubiquitination; negative regulation of phosphorylation; negative regulation of insulin-like growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter | 3p21.1-p12 |
| ATXN7L1 | - | 7q22.3 |
| ATXN7L2 | - | 1p13.3 |
| ATXN7L3 | histone deubiquitination; chromatin modification; positive regulation of transcription, DNA-dependent | 17q21.31 |
| ATXN7L3B | - | 12q21 |
| AUH | mRNA catabolic process; branched chain family amino acid catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 9q22.31 |
| AUNIP | - | 1p36.11 |
| AUP1 | - | 2p13 |
| AURKA | phosphatidylinositol-mediated signaling; protein autophosphorylation; regulation of centrosome cycle; positive regulation of mitosis; response to estradiol stimulus; regulation of protein stability; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell projection organization; mitosis; spindle organization; cell cycle; protein phosphorylation; mitotic cell cycle; cell division | 20q13 |
| AURKAIP1 | positive regulation of proteolysis; negative regulation of mitosis | 1p36.33 |
| AURKAPS1 | - | 1q41 |
| AURKB | positive regulation of cell cycle cytokinesis; M phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; mitotic prometaphase; mitotic cell cycle; cytokinesis; negative regulation of B cell apoptosis; aging; cell proliferation; attachment of spindle microtubules to kinetochore; histone modification; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; protein localization to kinetochore; cellular response to UV; protein autophosphorylation; spindle midzone assembly involved in mitosis; regulation of chromosome segregation | 17p13.1 |
| AURKC | cell cycle; positive regulation of cell cycle cytokinesis; spindle midzone assembly involved in mitosis; histone modification; attachment of spindle microtubules to kinetochore; meiosis; cytokinesis; protein phosphorylation; mitosis | 19q13.43 |
| AUTS2 | - | 7q11.22 |
| AVEN | anti-apoptosis; apoptotic process | 15q13.1 |
| AVIL | response to stress; cytoskeleton organization; nervous system development; positive regulation of neuron projection development; actin filament capping; cilium morphogenesis | 12q14.1 |
| AVL9 | - | 7p14.3 |
| AVPI1 | activation of MAPK activity; cell cycle | 10q24.2 |
| AVPR1A | G-protein coupled receptor signaling pathway; response to stress; positive regulation of vasoconstriction; generation of precursor metabolites and energy; calcium-mediated signaling; penile erection; sperm ejaculation; maternal behavior; cellular response to water deprivation; positive regulation of renal sodium excretion; social behavior; positive regulation of cellular pH reduction; positive regulation of prostaglandin biosynthetic process; positive regulation of cell growth; telencephalon development; activation of phospholipase C activity; myotube differentiation; positive regulation of glutamate secretion; positive regulation of heart rate; response to inorganic substance; response to organic substance; positive regulation of cell proliferation; blood circulation; grooming behavior; negative regulation of female receptivity; elevation of cytosolic calcium ion concentration; maternal aggressive behavior; regulation of systemic arterial blood pressure by vasopressin; response to corticosterone stimulus; ne | 12q14-q15 |
| AVPR2 | positive regulation of systemic arterial blood pressure; water transport; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of adenylate cyclase activity; I-kappaB kinase/NF-kappaB cascade; excretion; hemostasis; positive regulation of cell proliferation; positive regulation of gene expression; telencephalon development; response to cytokine stimulus; negative regulation of urine volume; negative regulation of renal sodium excretion; transmembrane transport; interferon-gamma production | Xq28 |
| AWAT1 | lipid biosynthetic process | Xq13.1 |
| AWAT2 | wax biosynthetic process; lipid biosynthetic process | Xq13.1 |
| AXDND1 | - | 1q25.2 |
| AXIN1 | cytoplasmic microtubule organization; protein polyubiquitination; in utero embryonic development; optic placode formation; positive regulation of protein phosphorylation; nucleocytoplasmic transport; apoptotic process; signal transduction; activation of JUN kinase activity; erythrocyte homeostasis; positive regulation of peptidyl-serine phosphorylation; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; activation of protein kinase activity; positive regulation of protein ubiquitination; cell death; olfactory placode formation; positive regulation of transforming growth factor beta receptor signaling pathway; multicellular organismal development; determination of left/right symmetry; negative regulation of Wnt receptor signaling pathway; sensory perception of sound; positive regulation of protein catabolic process; Wnt receptor signaling pathway involved in forebrain neuron fate commitment; forebrain anterior/posterior pattern specification; hemoglobin metabolic process; positiv | 16p13.3 |
| AXIN2 | Wnt receptor signaling pathway involved in somitogenesis; positive regulation of protein kinase activity; negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification; mRNA stabilization; regulation of chondrocyte development; regulation of centromeric sister chromatid cohesion; cellular response to organic cyclic compound; negative regulation of canonical Wnt receptor signaling pathway; regulation of Wnt receptor signaling pathway; chondrocyte differentiation involved in endochondral bone morphogenesis; intramembranous ossification; positive regulation of protein phosphorylation; multicellular organismal development; negative regulation of cell proliferation; dorsal/ventral axis specification; positive regulation of epithelial to mesenchymal transition; positive regulation of cell death; bone mineralization; regulation of mismatch repair; cellular protein localization; negative regulation of catenin import into nucleus; termination of G-protein coupled receptor signalin | 17q23-q24 |
| AXL | protein kinase B signaling cascade; apoptotic cell clearance; ovulation cycle; substrate adhesion-dependent cell spreading; erythrocyte homeostasis; secretion by cell; negative regulation of tumor necrosis factor production; cellular response to extracellular stimulus; platelet activation; cell differentiation; forebrain cell migration; spermatogenesis; enzyme linked receptor protein signaling pathway; signal transduction; inflammatory response; blood vessel remodeling; natural killer cell differentiation; neuron migration; innate immune response; negative regulation of lymphocyte activation; vagina development; negative regulation of neuron apoptosis | 19q13.1 |
| AZGP1 | immune response; cell adhesion; negative regulation of cell proliferation; lipid catabolic process; antigen processing and presentation | 7q22.1 |
| AZGP1P1 | - | 7q22.1 |
| AZGP1P2 | - | 7q22.1 |
| AZI2 | I-kappaB kinase/NF-kappaB cascade | 3p24.1 |
| AZIN1 | polyamine biosynthetic process; small molecule metabolic process; negative regulation of catalytic activity; positive regulation of catalytic activity; cellular nitrogen compound metabolic process; regulation of cellular amino acid metabolic process | 8q22.3 |
| AZIN2 | small molecule metabolic process; ornithine metabolic process; polyamine metabolic process; polyamine biosynthetic process; spermatogenesis; agmatine biosynthetic process; cellular nitrogen compound metabolic process; positive regulation of catalytic activity | 1p35.1 |
| AZU1 | macrophage chemotaxis; positive regulation of cell adhesion; positive regulation of MHC class II biosynthetic process; cellular extravasation; regulation of vascular permeability; positive regulation of tumor necrosis factor biosynthetic process; monocyte activation; glial cell migration; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; inflammatory response; chemotaxis; anti-apoptosis; proteolysis; microglial cell activation; positive regulation of fractalkine biosynthetic process; positive regulation of phagocytosis; defense response to Gram-negative bacterium; induction of positive chemotaxis; positive regulation of interleukin-1 beta biosynthetic process | 19p13.3 |
| B2M | antigen processing and presentation of exogenous peptide antigen via MHC class I; interferon-gamma-mediated signaling pathway; regulation of immune response; regulation of defense response to virus by virus; cytokine-mediated signaling pathway; viral reproduction; immune response; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I | 15q21-q22.2 |
| B3GALNT1 | oligosaccharide biosynthetic process; protein glycosylation | 3q25 |
| B3GALNT2 | protein glycosylation | 1q42.3 |
| B3GALT1 | protein glycosylation; oligosaccharide biosynthetic process; lipid glycosylation | 2q24.3 |
| B3GALT2 | oligosaccharide biosynthetic process; protein glycosylation | 1q31 |
| B3GALT4 | protein glycosylation | 6p21.3 |
| B3GALT5 | protein glycosylation | 21q22.3 |
| B3GALT5-AS1 | - | 21q22.2 |
| B3GALT6 | protein glycosylation; glycosaminoglycan biosynthetic process | 1p36.33 |
| B3GAT1 | metabolic process; carbohydrate metabolic process | 11q25 |
| B3GAT2 | - | 6q13 |
| B3GAT3 | glycosaminoglycan biosynthetic process | 11q12.3 |
| B3GLCT | fucose metabolic process; carbohydrate metabolic process | 13q12.3 |
| B3GNT2 | protein glycosylation; axon guidance; sensory perception of smell; O-glycan processing; post-translational protein modification; cellular protein metabolic process | 2p15 |
| B3GNT3 | post-translational protein modification; protein glycosylation; cellular protein metabolic process; O-glycan processing | 19p13.1 |
| B3GNT4 | O-glycan processing; post-translational protein modification; cellular protein metabolic process; protein glycosylation | 12q24 |
| B3GNT5 | glycolipid biosynthetic process; post-translational protein modification; protein glycosylation; multicellular organismal development; central nervous system development; O-glycan processing; cellular protein metabolic process; metabolic process | 3q28 |
| B3GNT6 | glycoprotein biosynthetic process; cellular protein metabolic process; post-translational protein modification; O-glycan processing, core 3; protein glycosylation; O-glycan processing | 11q13.4 |
| B3GNT7 | O-glycan processing; post-translational protein modification; cellular protein metabolic process; protein glycosylation | 2q37.1 |
| B3GNT8 | post-translational protein modification; cellular protein metabolic process; protein glycosylation; O-glycan processing; poly-N-acetyllactosamine biosynthetic process | 19q13.2 |
| B3GNT9 | protein glycosylation | 16q22.1 |
| B3GNTL1 | - | 17q25.3 |
| B4GALNT1 | lipid glycosylation; ganglioside biosynthetic process; carbohydrate metabolic process; glycosphingolipid metabolic process; spermatogenesis; lipid storage | 12q13.3 |
| B4GALNT2 | UDP-N-acetylglucosamine metabolic process; protein glycosylation; UDP-N-acetylgalactosamine metabolic process; negative regulation of cell-cell adhesion; lipid glycosylation | 17q21.32 |
| B4GALNT3 | - | 12p13.33 |
| B4GALNT4 | - | 11p15.5 |
| B4GALT1 | post-translational protein modification; development of secondary sexual characteristics; mammary gland development; extracellular matrix organization; protein N-linked glycosylation via asparagine; oligosaccharide biosynthetic process; negative regulation of cell proliferation; penetration of zona pellucida; binding of sperm to zona pellucida; cell adhesion; protein glycosylation; galactose metabolic process; lactose biosynthetic process; carbohydrate metabolic process; acute inflammatory response; epithelial cell development; branching morphogenesis of a tube; leukocyte migration; regulation of cellular component movement; regulation of acrosome reaction; positive regulation of epithelial cell proliferation involved in wound healing; angiogenesis involved in wound healing; positive regulation of apoptosis involved in mammary gland involution; cellular protein metabolic process | 9p13 |
| B4GALT1-AS1 | - | - |
| B4GALT2 | cellular protein metabolic process; post-translational protein modification; carbohydrate metabolic process; protein N-linked glycosylation via asparagine | 1p34-p33 |
| B4GALT3 | carbohydrate metabolic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 1q21-q23 |
| B4GALT4 | protein N-linked glycosylation via asparagine; carbohydrate metabolic process; cellular protein metabolic process; post-translational protein modification; membrane lipid metabolic process | 3q13.3 |
| B4GALT4-AS1 | - | - |
| B4GALT5 | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; O-glycan processing; carbohydrate metabolic process | 20q13.1-q13.2 |
| B4GALT6 | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; carbohydrate metabolic process | 18q11 |
| B4GALT7 | negative regulation of fibroblast proliferation; carbohydrate metabolic process; fibril organization; glycosaminoglycan biosynthetic process; protein modification process; proteoglycan metabolic process | 5q35.2-q35.3 |
| B9D1 | smoothened signaling pathway; cell projection organization; cilium assembly; cilium morphogenesis | 17p11.2 |
| B9D2 | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; cell projection organization; cilium assembly | 19q13.2 |
| BAALC | - | 8q22.3 |
| BAALC-AS1 | - | 8q22.3 |
| BAALC-AS2 | - | 8q22.3 |
| BAAT | liver development; bile acid conjugation; glycine metabolic process; lipid metabolic process; fatty acid metabolic process; acyl-CoA metabolic process; bile acid biosynthetic process; bile acid metabolic process; taurine metabolic process; organ regeneration; small molecule metabolic process; bile acid and bile salt transport | 9q22.3 |
| BAATP1 | - | 9q31.1 |
| BABAM1 | response to ionizing radiation; chromatin modification; G2/M transition DNA damage checkpoint; positive regulation of DNA repair; protein K63-linked deubiquitination; double-strand break repair | 19p13.11 |
| BACE1 | proteolysis; membrane protein ectodomain proteolysis; beta-amyloid metabolic process | 11q23.2-q23.3 |
| BACE1-AS | - | 11q23.3 |
| BACE2 | negative regulation of amyloid precursor protein biosynthetic process; peptide hormone processing; membrane protein ectodomain proteolysis; proteolysis | 21q22.3 |
| BACH1 | regulation of transcription involved in G1/S phase of mitotic cell cycle; regulation of transcription involved in G2/M-phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter in response to hypoxia | 21q22.11 |
| BACH1-IT2 | - | - |
| BACH1-IT3 | - | 21q22.11 |
| BACH2 | - | 6q15 |
| BAD | glucose homeostasis; positive regulation of insulin secretion involved in cellular response to glucose stimulus; positive regulation of glucokinase activity; positive regulation of insulin secretion; cytokine-mediated signaling pathway; positive regulation of mitochondrial membrane potential; activation of pro-apoptotic gene products; induction of apoptosis by intracellular signals; induction of apoptosis by extracellular signals; fibroblast growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; apoptotic process; glucose catabolic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of type B pancreatic cell development; positive regulation of release of cytochrome c from mitochondria; cellular response to hypoxia; cellular response to lipid; cellular response to nicotine; cellular response to mechan | 11q13.1 |
| BAG1 | anti-apoptosis; response to stress; cell surface receptor signaling pathway; response to lithium ion; response to nicotine; response to drug; positive regulation of neuron apoptosis; positive regulation of transcription from RNA polymerase II promoter; chaperone cofactor-dependent protein refolding; neuron differentiation | 9p12 |
| BAG2 | protein folding; protein metabolic process | 6p12.1-p11.2 |
| BAG3 | brain development; spinal cord development; protein folding; anti-apoptosis | 10q25.2-q26.2 |
| BAG4 | cellular response to tumor necrosis factor; protein folding; anti-apoptosis | 8p11.23 |
| BAG5 | neuron death; negative regulation of protein refolding; negative regulation of ubiquitin-protein ligase activity; negative regulation of protein ubiquitination; protein folding; regulation of inclusion body assembly | 14q32.33 |
| BAG6 | lung development; synaptonemal complex assembly; transport; ubiquitin-dependent protein catabolic process; kidney development; spermatogenesis; brain development; embryo development; chromatin modification; internal peptidyl-lysine acetylation; cell differentiation; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; regulation of cell proliferation; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; negative regulation of proteolysis; protein stabilization; apoptosis in response to endoplasmic reticulum stress; tail-anchored membrane protein insertion into ER membrane | 6p21.3 |
| BAGE | - | 21p11.1 |
| BAGE2 | - | 21p |
| BAHCC1 | - | 17q25.3 |
| BAHD1 | negative regulation of transcription, DNA-dependent; heterochromatin assembly; chromatin modification | 15q15.1 |
| BAIAP2 | response to bacterium; filopodium assembly; signal transduction; axonogenesis; insulin receptor signaling pathway; regulation of actin cytoskeleton organization | 17q25 |
| BAIAP2-AS1 | - | 17q25.3 |
| BAIAP2L1 | positive regulation of actin filament polymerization; filopodium assembly; response to bacterium; signal transduction; positive regulation of actin cytoskeleton reorganization | 7q22.1 |
| BAIAP2L2 | filopodium assembly; signal transduction; cellular membrane organization | 22q13.1 |
| BAIAP3 | neurotransmitter secretion; G-protein coupled receptor signaling pathway | 16p13.3 |
| BAK1 | B cell apoptosis; vagina development; release of cytochrome c from mitochondria; blood vessel remodeling; myeloid cell homeostasis; B cell negative selection; apoptotic process; brain development; aging; mitochondrial fusion; negative regulation of cell proliferation; induction of apoptosis by extracellular signals; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; response to fungus; response to mycotoxin; limb morphogenesis; regulation of mitochondrial membrane potential; regulation of cell cycle; post-embryonic camera-type eye morphogenesis; regulation of mitochondrial membrane permeability; response to ethanol; regulation of protein heterodimerization activity; regulation of protein homodimerization activity; positive regulation of apoptotic process; response to hydrogen peroxide; response to drug; response to UV-C; cellular response to UV; negative regulation of pept | 6p21.3 |
| BAK1P1 | - | 20q11.21 |
| BAMBI | cell migration; negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of protein binding; positive regulation of catenin import into nucleus; positive regulation of cell proliferation; regulation of cell shape; positive regulation of epithelial to mesenchymal transition; positive regulation of transcription, DNA-dependent; positive regulation of canonical Wnt receptor signaling pathway | 10p12.3-p11.2 |
| BANCR | - | - |
| BANF1 | response to virus; viral reproduction; provirus integration; initiation of viral infection; interspecies interaction between organisms | 11q13.1 |
| BANF1P2 | - | 10q26.3 |
| BANF1P3 | - | - |
| BANF1P4 | - | - |
| BANF1P5 | - | 7q22.3 |
| BANF2 | - | 20p12.1 |
| BANK1 | B cell activation | 4q24 |
| BANP | chromatin modification; regulation of transcription, DNA-dependent; multicellular organismal development; cell cycle | 16q24 |
| BAP1 | ubiquitin-dependent protein catabolic process; negative regulation of cell proliferation; protein K48-linked deubiquitination; regulation of cell cycle; monoubiquitinated histone H2A deubiquitination; protein deubiquitination; chromatin modification; regulation of cell growth; protein modification process; proteolysis | 3p21.31-p21.2 |
| BARD1 | protein K6-linked ubiquitination; negative regulation of protein export from nucleus; positive regulation of protein catabolic process; negative regulation of apoptotic process; positive regulation of apoptotic process; regulation of phosphorylation; negative regulation of mRNA 3'-end processing; protein ubiquitination; spermatogenesis; cell cycle arrest; response to DNA damage stimulus; DNA repair; tissue homeostasis | 2q34-q35 |
| BARHL1 | negative regulation of neuron apoptosis; neuron migration; midbrain development; sensory perception of sound | 9q34 |
| BARHL2 | nervous system development; positive regulation of translation; regulation of axon extension; neuron differentiation; regulation of transcription from RNA polymerase II promoter; neuron migration; cell fate determination | 1p22.2 |
| BARX1 | regulation of transcription, DNA-dependent; negative regulation of Wnt receptor signaling pathway; epithelial cell differentiation; organ development; spleen development; digestive system development; anterior/posterior pattern specification; cell-cell signaling; multicellular organismal development; tissue development | 9q12 |
| BARX2 | myotube differentiation; catagen; negative regulation of transcription from RNA polymerase II promoter; cartilage condensation; positive regulation of transcription from RNA polymerase II promoter | 11q25 |
| BASP1 | diaphragm development; positive regulation of heart growth; metanephric mesenchyme development; glomerular visceral epithelial cell differentiation; mesenchymal to epithelial transition; negative regulation of transcription, DNA-dependent; gonad development; positive regulation of metanephric ureteric bud development; thorax and anterior abdomen determination | 5p15.1 |
| BASP1P1 | - | 13q12.12 |
| BATF | regulation of transcription, DNA-dependent | 14q24.3 |
| BATF2 | - | 11q13.1 |
| BATF3 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 1q32.3 |
| BAX | nuclear fragmentation involved in apoptotic nuclear change; cleavage of lamin; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; apoptotic process; DNA fragmentation involved in apoptotic nuclear change; release of cytochrome c from mitochondria; B cell apoptosis; positive regulation of protein oligomerization; negative regulation of protein binding; transformed cell apoptosis; establishment or maintenance of transmembrane electrochemical gradient; response to toxin; apoptotic mitochondrial changes; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; negative regulation of survival gene product expression; activation of pro-apoptotic gene products; induction of apoptosis by intracellular signals; induction of apoptosis by extracellular signals; mitochondrial fusion; positive regulation of apoptotic process; release of matrix enzymes from mitochondria; positive regulation of intrinsic apoptotic signaling pathw | 19q13.3-q13.4 |
| BAZ1A | regulation of transcription, DNA-dependent; transcription, DNA-dependent; chromatin remodeling; DNA-dependent DNA replication | 14q13.2 |
| BAZ1B | double-strand break repair; nucleosome disassembly; transcription, DNA-dependent; chromatin assembly or disassembly; heart morphogenesis; chromatin-mediated maintenance of transcription; regulation of transcription, DNA-dependent; response to DNA damage stimulus; histone phosphorylation; DNA replication-dependent nucleosome disassembly; regulation of gene expression, epigenetic; ATP-dependent chromatin remodeling | 7q11.23 |
| BAZ2A | transcription, DNA-dependent; regulation of transcription, DNA-dependent; chromatin remodeling; DNA methylation; chromatin silencing at rDNA; histone deacetylation | 12q13.3 |
| BAZ2B | regulation of transcription, DNA-dependent; transcription, DNA-dependent | 2q24.2 |
| BBC3 | release of cytochrome c from mitochondria; activation of cysteine-type endopeptidase activity involved in apoptotic process; determination of adult lifespan; induction of apoptosis; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; positive regulation of thymocyte apoptosis; positive regulation of protein homooligomerization; cellular response to hypoxia; protein insertion into mitochondrial membrane involved in induction of apoptosis; reduction of endoplasmic reticulum calcium ion concentration; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; negative regulation of growth; release of sequestered calcium ion into cytosol; apoptotic process; positive regulation of intrinsic apoptotic signaling pathway; positive regulation of release of cytochrome c from mitochondria | 19q13.3-q13.4 |
| BBIP1 | cilium assembly | 10q25.2 |
| BBOF1 | - | 14q24.3 |
| BBOX1 | cellular nitrogen compound metabolic process; small molecule metabolic process; carnitine biosynthetic process | 11p14.2 |
| BBS1 | response to stimulus; photoreceptor cell maintenance; Golgi to plasma membrane protein transport; nonmotile primary cilium assembly; retina homeostasis; cilium assembly | 11q13 |
| BBS10 | response to stimulus; chaperone-mediated protein complex assembly; nonmotile primary cilium assembly; photoreceptor cell maintenance; cellular protein metabolic process; retina homeostasis | 12q21.2 |
| BBS12 | cellular protein metabolic process; chaperone-mediated protein complex assembly | 4q27 |
| BBS2 | cilium morphogenesis; response to stimulus; brain morphogenesis; photoreceptor cell maintenance; fat cell differentiation; Golgi to plasma membrane protein transport; negative regulation of multicellular organism growth; protein localization to organelle; leptin-mediated signaling pathway; melanosome transport; negative regulation of appetite; adult behavior; cerebral cortex development; hippocampus development; striatum development; protein localization; sperm axoneme assembly; regulation of cilium beat frequency involved in ciliary motility | 16q21 |
| BBS4 | microtubule anchoring at centrosome; microtubule cytoskeleton organization; nonmotile primary cilium assembly; cilium assembly; fat cell differentiation; photoreceptor cell maintenance; positive regulation of flagellum assembly; retinal rod cell development; intracellular transport; brain morphogenesis; sensory processing; response to stimulus; centrosome organization; maintenance of protein location in nucleus; pigment granule aggregation in cell center; convergent extension involved in gastrulation; cilium morphogenesis; regulation of cilium beat frequency involved in ciliary motility; leptin-mediated signaling pathway; neural tube closure; retina homeostasis; heart looping; spermatid development; sensory perception of smell; dendrite development; regulation of lipid metabolic process; striatum development; cerebral cortex development; adult behavior; negative regulation of appetite; melanosome transport; regulation of cytokinesis; cell cycle cytokinesis; protein localization to organelle; hippocampus devel | 15q22.3-q23 |
| BBS5 | visual perception; flagellum assembly; melanosome transport; cilium assembly; heart looping; response to stimulus | 2q31.1 |
| BBS7 | digestive tract morphogenesis; cilium morphogenesis; pigment granule aggregation in cell center; response to stimulus; heart looping; determination of left/right symmetry; visual perception; melanosome transport; fat cell differentiation | 4q27 |
| BBS9 | visual perception; response to stimulus; fat cell differentiation | 7p14 |
| BBX | regulation of transcription, DNA-dependent | 3q13.1 |
| BCAM | cell adhesion; cell-matrix adhesion; signal transduction | 19q13.2 |
| BCAN | regulation of neuronal synaptic plasticity; hippocampus development; cell adhesion | 1q31 |
| BCAP29 | intracellular protein transport; apoptotic process; vesicle-mediated transport | 7q22.3 |
| BCAP31 | reduction of endoplasmic reticulum calcium ion concentration; intracellular protein transport; calcium-mediated signaling using intracellular calcium source; vesicle-mediated transport; elevation of cytosolic calcium ion concentration; immune response; cellular component disassembly involved in apoptosis; antigen processing and presentation of peptide antigen via MHC class I; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; elevation of mitochondrial calcium ion concentration; positive regulation of intrinsic apoptotic signaling pathway; apoptotic process | Xq28 |
| BCAR1 | integrin-mediated signaling pathway; G-protein coupled receptor signaling pathway; epidermal growth factor receptor signaling pathway; cell chemotaxis; cell division; B cell receptor signaling pathway; T cell receptor signaling pathway; antigen receptor-mediated signaling pathway; signal transduction; cell adhesion; hepatocyte growth factor receptor signaling pathway; actin filament organization; regulation of cell growth; nerve growth factor receptor signaling pathway; vascular endothelial growth factor receptor signaling pathway; platelet-derived growth factor receptor signaling pathway; regulation of apoptotic process; cellular response to hepatocyte growth factor stimulus; positive regulation of cell migration; platelet activation; cell migration; insulin receptor signaling pathway; cell proliferation; blood coagulation | 16q23.1 |
| BCAR3 | response to drug; signal transduction; small GTPase mediated signal transduction | 1p22.1 |
| BCAR4 | - | 16p13.13 |
| BCAS1 | - | 20q13.2 |
| BCAS2 | RNA splicing, via transesterification reactions; mRNA processing; RNA splicing | 1p13.2 |
| BCAS2P2 | - | - |
| BCAS2P3 | - | 13q31.1 |
| BCAS3 | - | 17q23 |
| BCAS4 | - | 20q13.13 |
| BCAT1 | branched chain family amino acid catabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; branched chain family amino acid biosynthetic process; cell proliferation; G1/S transition of mitotic cell cycle | 12p12.1 |
| BCAT2 | isoleucine catabolic process; valine metabolic process; lactation; branched chain family amino acid biosynthetic process; branched chain family amino acid catabolic process; leucine biosynthetic process; regulation of hormone levels; cellular nitrogen compound metabolic process; small molecule metabolic process | 19q13 |
| BCCIP | neuroendocrine cell differentiation; cell cycle; DNA repair; regulation of cyclin-dependent protein kinase activity | 10q26.1 |
| BCDIN3D | - | 12q13.12 |
| BCHE | synaptic transmission, cholinergic; response to folic acid; response to glucocorticoid stimulus; negative regulation of synaptic transmission; cocaine metabolic process; response to alkaloid; response to drug; choline metabolic process; metabolic process; learning; response to nutrient | 3q26.1-q26.2 |
| BCKDHA | branched chain family amino acid catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 19q13.1-q13.2 |
| BCKDHB | cellular nitrogen compound metabolic process; response to cAMP; response to glucocorticoid stimulus; branched chain family amino acid catabolic process; response to nutrient; small molecule metabolic process | 6q14.1 |
| BCKDK | phosphorylation; peptidyl-histidine phosphorylation; branched chain family amino acid catabolic process; cellular amino acid catabolic process | 16p11.2 |
| BCL10 | neural tube closure; toll-like receptor signaling pathway; response to molecule of bacterial origin; adaptive immune response; negative regulation of mature B cell apoptosis; apoptotic process; induction of apoptosis; cellular defense response; cell death; response to fungus; immunoglobulin mediated immune response; positive regulation of mast cell cytokine production; cellular response to mechanical stimulus; protein homooligomerization; positive regulation of protein ubiquitination; protein oligomerization; positive regulation of NF-kappaB transcription factor activity; positive regulation of T cell activation; regulation of T cell receptor signaling pathway; T cell receptor signaling pathway; positive regulation of transcription, DNA-dependent; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; positive regulation of phosphorylation; interleukin-6 biosynthetic process; response to chemical stimulus; lymphotoxin A biosynthetic process; positive | 1p22 |
| BCL11A | negative regulation of protein homooligomerization; negative regulation of gene expression; negative regulation of dendrite development; regulation of dendrite development; positive regulation of collateral sprouting; negative regulation of collateral sprouting; positive regulation of transcription from RNA polymerase II promoter; negative regulation of axon extension; B cell differentiation; T cell differentiation; hemopoiesis; protein sumoylation; negative regulation of neuron projection development; positive regulation of neuron projection development; regulation of transcription, DNA-dependent | 2p16.1 |
| BCL11B | negative regulation of apoptotic process; keratinocyte development; alpha-beta T cell differentiation; thymus development; positive regulation of transcription from RNA polymerase II promoter; epithelial cell morphogenesis; regulation of lipid metabolic process; regulation of keratinocyte proliferation; central nervous system neuron differentiation; post-embryonic camera-type eye development; striatal medium spiny neuron differentiation; T cell differentiation in thymus; T cell receptor V(D)J recombination; odontogenesis of dentin-containing tooth; regulation of transcription, DNA-dependent; positive T cell selection; skin development; negative regulation of cell proliferation; axonogenesis | 14q32.2 |
| BCL2 | response to L-ascorbic acid; metanephros development; ovarian follicle development; cell morphogenesis; protein polyubiquitination; G1/S transition of mitotic cell cycle; negative regulation of myeloid cell apoptosis; T cell differentiation in thymus; positive regulation of peptidyl-serine phosphorylation; negative regulation of osteoblast proliferation; response to cytokine stimulus; glial cell apoptosis; regulation of protein localization; response to nicotine; ureteric bud development; branching involved in ureteric bud morphogenesis; behavioral fear response; response to hypoxia; B cell homeostasis; release of cytochrome c from mitochondria; regulation of cell-matrix adhesion; lymphoid progenitor cell differentiation; B cell lineage commitment; T cell lineage commitment; immune system development; renal system process; protein dephosphorylation; melanin metabolic process; regulation of nitrogen utilization; negative regulation of ossification; regulation of gene expression; negative regulation of calcium | 18q21.3 |
| BCL2A1 | anti-apoptosis; regulation of apoptotic process | 15q24.3 |
| BCL2L1 | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; growth; positive regulation of apoptotic process; negative regulation of apoptotic process; negative regulation of neuron apoptosis; innate immune response; positive regulation of anti-apoptosis; response to cycloheximide; regulation of mitochondrial membrane permeability; regulation of mitochondrial membrane potential; cellular process regulating host cell cycle in response to virus; cellular response to amino acid stimulus; cellular response to alkaloid; cellular response to gamma radiation; mitotic cell cycle G2/M transition checkpoint; negative regulation of establishment of protein localization in plasma membrane; response to cytokine stimulus; fertilization; response to radiation; apoptotic mitochondrial changes; negative regulation of survival gene product expression; induction of apoptosis by intracellular signals; male gonad development; positive regulation of cell proliferation; spermatogenesis; germ cell developme | 20q11.21 |
| BCL2L10 | regulation of apoptotic process; female gamete generation; spermatogenesis; activation of cysteine-type endopeptidase activity involved in apoptotic process; anti-apoptosis | 15q21 |
| BCL2L11 | thymus development; positive regulation of intrinsic apoptotic signaling pathway; positive regulation of release of cytochrome c from mitochondria; cellular process regulating host cell cycle in response to virus; post-embryonic organ morphogenesis; spleen development; regulation of developmental pigmentation; nerve growth factor receptor signaling pathway; regulation of organ growth; ear development; activation of cysteine-type endopeptidase activity involved in apoptotic process; cell-matrix adhesion; spermatogenesis; male gonad development; induction of apoptosis by extracellular signals; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; post-embryonic development; positive regulation of cell cycle; induction of apoptosis; apoptotic process; myeloid cell homeostasis; mammary gland development; positive regulation of neuron apoptosis; kidney development; B cell apoptosis; B cell homeostasis; positive regulation of protein homooligomerization; tube formation; odontog | 2q13 |
| BCL2L12 | apoptotic process | 19q13.3 |
| BCL2L13 | regulation of apoptotic process; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process | 22q11.1 |
| BCL2L14 | apoptotic process; regulation of apoptotic process | 12p13-p12 |
| BCL2L15 | apoptotic process | 1p13.2 |
| BCL2L2 | anti-apoptosis; spermatogenesis; negative regulation of apoptotic process; Sertoli cell proliferation | 14q11.2-q12 |
| BCL3 | negative regulation of tumor necrosis factor biosynthetic process; regulation of apoptotic process; defense response to bacterium; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; defense response to protozoan; negative regulation of apoptotic process; T-helper 2 cell differentiation; positive regulation of interleukin-10 biosynthetic process; negative regulation of interleukin-8 biosynthetic process; positive regulation of translation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; spleen development; regulation of DNA binding; maintenance of protein location in nucleus; T-helper 1 type immune response; protein import into nucleus, translocation; follicular dendritic cell differentiation; marginal zone B cell differentiation; humoral immune response mediated by circulating immunoglobulin; germinal center formation; transcription, D | 19q13.1-q13.2 |
| BCL6 | negative regulation of mast cell cytokine production; negative regulation of Rho protein signal transduction; positive regulation of apoptotic process; negative regulation of apoptotic process; regulation of memory T cell differentiation; negative regulation of cell differentiation; negative regulation of T-helper 2 cell differentiation; negative regulation of S phase of mitotic cell cycle; negative regulation of transcription, DNA-dependent; negative regulation of isotype switching to IgE isotypes; erythrocyte development; regulation of inflammatory response; regulation of immune response; positive regulation of cellular component movement; negative regulation of type 2 immune response; response to DNA damage stimulus; regulation of Rho GTPase activity; protein import into nucleus, translocation; negative regulation of transcription from RNA polymerase II promoter; cell morphogenesis; negative regulation of cell-matrix adhesion; regulation of germinal center formation; negative regulation of B cell apoptosis | 3q27 |
| BCL6B | negative regulation of transcription from RNA polymerase II promoter | 17p13.1 |
| BCL7A | negative regulation of transcription, DNA-dependent | 12q24.13 |
| BCL7B | - | 7q11.23 |
| BCL7C | apoptotic process | 16p11 |
| BCL9 | regulation of transforming growth factor beta receptor signaling pathway; Wnt receptor signaling pathway | 1q21 |
| BCL9L | negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; regulation of cell morphogenesis; positive regulation of epithelial to mesenchymal transition; regulation of transcription, DNA-dependent | 11q23.3 |
| BCLAF1 | induction of apoptosis; positive regulation of apoptotic process; regulation of DNA-dependent transcription in response to stress; positive regulation of transcription initiation, DNA-dependent; positive regulation of response to DNA damage stimulus; negative regulation of transcription, DNA-dependent; positive regulation of intrinsic apoptotic signaling pathway | 6q22-q23 |
| BCO1 | retinoid metabolic process; steroid metabolic process; small molecule metabolic process | 16q23.2 |
| BCO2 | retinal metabolic process; carotene metabolic process; retinoic acid metabolic process | 11q23.1 |
| BCOR | heart development; negative regulation of histone H3-K36 methylation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of bone mineralization; histone H2A monoubiquitination; odontogenesis; negative regulation of transcription, DNA-dependent; negative regulation of histone H3-K4 methylation; palate development; specification of axis polarity; negative regulation of tooth mineralization; chromatin modification | Xp11.4 |
| BCORL1 | regulation of transcription, DNA-dependent; chromatin modification | Xq25-q26.1 |
| BCORP1 | - | Yq11.222 |
| BCR | inner ear morphogenesis; protein phosphorylation; signal transduction; small GTPase mediated signal transduction; brain development; actin cytoskeleton organization; negative regulation of cell migration; response to lipopolysaccharide; regulation of Rho protein signal transduction; negative regulation of neutrophil degranulation; positive regulation of GTPase activity; negative regulation of inflammatory response; positive regulation of phagocytosis; neuromuscular process controlling balance; regulation of small GTPase mediated signal transduction; regulation of cell cycle | 22q11.23 |
| BCRP1 | - | 22q11.23 |
| BCRP2 | - | 22q11.21 |
| BCRP5 | - | 22q11.21 |
| BCRP8 | - | 22q11.23 |
| BCS1L | mitochondrion organization; mitochondrial respiratory chain complex I assembly; mitochondrial respiratory chain complex IV assembly; mitochondrial respiratory chain complex III assembly | 2q33 |
| BCYRN1 | - | 2p21 |
| BDH1 | metabolic process; liver development; brain development; response to nutrient; adipose tissue development; response to growth hormone stimulus; response to corticosterone stimulus; ketone body catabolic process; ketone body biosynthetic process; cellular ketone body metabolic process; response to cadmium ion; response to ethanol; small molecule metabolic process; cellular lipid metabolic process; response to starvation; response to drug; response to insulin stimulus; response to estradiol stimulus; response to hormone stimulus; response to toxin | 3q29 |
| BDH2 | iron ion homeostasis; siderophore biosynthetic process; fatty acid beta-oxidation; heme metabolic process | 4q24 |
| BDH2P1 | - | 6q16.2 |
| BDKRB1 | response to lipopolysaccharide; positive regulation of release of sequestered calcium ion into cytosol; negative regulation of blood pressure; negative regulation of cell growth; negative regulation of protein phosphorylation; positive regulation of leukocyte migration; inflammatory response; elevation of cytosolic calcium ion concentration; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; cell migration; sensory perception of pain | 14q32.1-q32.2 |
| BDKRB2 | regulation of vasoconstriction; smooth muscle contraction; inflammatory response; cell surface receptor signaling pathway; transmembrane receptor protein tyrosine kinase signaling pathway; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration; arachidonic acid secretion; regulation of vascular permeability; blood circulation | 14q32.1-q32.2 |
| BDNF | inner ear development; feeding behavior; regulation of synaptic plasticity; regulation of retinal cell programmed cell death; positive regulation of neuron differentiation; negative regulation of neuron apoptosis; fear response; response to drug; nerve development; ureteric bud development; anti-apoptosis; nervous system development; negative regulation of neuroblast proliferation; axon guidance; axon target recognition; mechanoreceptor differentiation; regulation of metabolic process; dendrite development; glutamate secretion; neuron recognition; learning or memory | 11p13 |
| BDNF-AS | - | 11p14.1 |
| BDP1 | regulation of transcription, DNA-dependent; gene expression; transcription from RNA polymerase III promoter | 5q13 |
| BEAN1 | cell death | 16q21 |
| BECN1 | anti-apoptosis; positive regulation of macroautophagy; response to virus; negative regulation of cell proliferation; cell cycle; cellular defense response; autophagy; cytokinesis; autophagic vacuole assembly | 17q21 |
| BEGAIN | - | 14q32.2 |
| BEND2 | - | Xp22.13 |
| BEND3 | - | 6q21 |
| BEND3P3 | - | 10q22.3 |
| BEND4 | - | 4p13 |
| BEND5 | - | 1p33 |
| BEND6 | - | 6p12.1 |
| BEND7 | - | 10p13 |
| BEST1 | ion transport; transepithelial chloride transport; visual perception; chloride transport; response to stimulus | 11q13 |
| BEST2 | chloride transport; sensory perception of smell; membrane depolarization; ion transport | 19p13.2 |
| BEST3 | ion transmembrane transport; negative regulation of ion transport | 12q14.2-q15 |
| BEST4 | ion transport | 1p33-p32.3 |
| BET1 | vesicle fusion with Golgi apparatus; vesicle-mediated transport; protein transport; ER to Golgi vesicle-mediated transport | 7q21.1-q22 |
| BET1L | retrograde transport, endosome to Golgi; protein transport | 11p15.5 |
| BEX1 | cell differentiation; nervous system development; multicellular organismal development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of sequence-specific DNA binding transcription factor activity | Xq22.1|Xq22 |
| BEX2 | regulation of apoptotic process; regulation of cell cycle | Xq22 |
| BEX4 | - | Xq22.1-q22.3 |
| BEX5 | - | Xq22.1 |
| BFAR | anti-apoptosis; apoptotic process | 16p13.12 |
| BFSP1 | lens fiber cell development; cell maturation | 20p12.1 |
| BFSP2 | cell maturation; response to stimulus; intermediate filament cytoskeleton organization; lens fiber cell development; visual perception | 3q22.1 |
| BGLAP | response to nutrient levels; cellular response to vitamin D; bone development; response to glucocorticoid stimulus; regulation of osteoclast differentiation; response to ethanol; regulation of bone resorption; response to estrogen stimulus; response to drug; odontogenesis; response to hydroxyisoflavone; response to testosterone stimulus; response to vitamin D; response to mechanical stimulus; regulation of bone mineralization; bone mineralization; response to activity; skeletal system development; osteoblast differentiation; osteoblast development; cell adhesion; cell aging; response to zinc ion; response to inorganic substance; response to gravity | 1q22 |
| BGLT3 | - | 11p15.4 |
| BGN | peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; blood vessel remodeling | Xq28 |
| BHLHA15 | intracellular distribution of mitochondria; regulation of transcription, DNA-dependent; cell maturation; cell-cell signaling; positive regulation of transcription from RNA polymerase II promoter; glucose homeostasis; calcium-mediated signaling; mitochondrial calcium ion transport; Golgi organization; G-protein coupled receptor signaling pathway | 7q21.3 |
| BHLHA9 | regulation of transcription, DNA-dependent | 17p13.3 |
| BHLHB9 | - | Xq23 |
| BHLHE23 | regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of retinal cell programmed cell death; post-embryonic eye morphogenesis | 20q13.33 |
| BHLHE40 | negative regulation of sequence-specific DNA binding transcription factor activity; entrainment of circadian clock by photoperiod; circadian regulation of gene expression; response to light stimulus; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; regulation of neuronal synaptic plasticity | 3p26 |
| BHLHE40-AS1 | - | 3p26 |
| BHLHE41 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; circadian rhythm; cell proliferation; organ morphogenesis; negative regulation of myotube differentiation; negative regulation of transcription by competitive promoter binding; cell differentiation | 12p12.1 |
| BHMG1 | - | 19q13.32 |
| BHMT | cellular nitrogen compound metabolic process; methionine biosynthetic process; protein methylation; sulfur amino acid metabolic process; regulation of homocysteine metabolic process; small molecule metabolic process | 5q14.1 |
| BHMT2 | methionine biosynthetic process | 5q13 |
| BICC1 | multicellular organismal development; negative regulation of canonical Wnt receptor signaling pathway | 10q21.1 |
| BICD1 | anatomical structure morphogenesis; intracellular mRNA localization; transport; RNA processing; microtubule anchoring at microtubule organizing center; minus-end-directed organelle transport along microtubule; positive regulation of receptor-mediated endocytosis; stress granule assembly; protein localization to organelle; viral reproduction | 12p11.2-p11.1 |
| BICD2 | transport; microtubule anchoring at microtubule organizing center; minus-end-directed organelle transport along microtubule | 9q22.31 |
| BID | regulation of G1/S transition of mitotic cell cycle; positive regulation of release of cytochrome c from mitochondria; establishment of protein localization in membrane; neuron apoptosis; regulation of mitochondrial membrane permeability; positive regulation of apoptotic process; regulation of cell proliferation; positive regulation of protein homooligomerization; apoptotic process; brain development; protein targeting to mitochondrion; glial cell apoptosis; release of cytochrome c from mitochondria; induction of apoptosis via death domain receptors; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; apoptotic mitochondrial changes; response to estradiol stimulus; positive regulation of protein oligomerization | 22q11.1 |
| BIK | induction of apoptosis; spermatogenesis; male gonad development; positive regulation of protein homooligomerization; regulation of apoptotic process; positive regulation of release of cytochrome c from mitochondria | 22q13.31 |
| BIN1 | positive regulation of endocytosis; cell proliferation; muscle cell differentiation; positive regulation of GTPase activity; multicellular organismal development; interspecies interaction between organisms | 2q14 |
| BIN2 | - | 12q13 |
| BIN2P1 | - | 4q21.22 |
| BIN3 | protein localization; unidimensional cell growth; cytokinesis; barrier septum assembly; actin filament organization; cell cycle | 8p21.3 |
| BIN3-IT1 | - | 8p21.3 |
| BIRC2 | regulation of innate immune response; protein polyubiquitination; placenta development; apoptotic process; anti-apoptosis; cellular component disassembly involved in apoptosis; cell surface receptor signaling pathway; regulation of toll-like receptor signaling pathway; NIK/NF-kappaB cascade; regulation of RIG-I signaling pathway; regulation of cell proliferation; negative regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; proteasomal ubiquitin-dependent protein catabolic process; regulation of cysteine-type endopeptidase activity; regulation of nucleotide-binding oligomerization domain containing signaling pathway; regulation of cell cycle; regulation of inflammatory response; regulation of cell differentiation | 11q22 |
| BIRC3 | regulation of RIG-I signaling pathway; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; NIK/NF-kappaB cascade; regulation of toll-like receptor signaling pathway; cell surface receptor signaling pathway; anti-apoptosis; regulation of innate immune response; regulation of inflammatory response; regulation of nucleotide-binding oligomerization domain containing signaling pathway; regulation of cysteine-type endopeptidase activity | 11q22 |
| BIRC5 | G2/M transition of mitotic cell cycle; establishment of chromosome localization; cell division; positive regulation of mitotic cell cycle; negative regulation of transcription, DNA-dependent; regulation of apoptotic process; cytokinesis; protein phosphorylation; anti-apoptosis; chromosome segregation; mitosis; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of cell proliferation; protein complex localization; positive regulation of exit from mitosis; spindle checkpoint | 17q25 |
| BIRC6 | spongiotrophoblast layer development; apoptotic process; protein phosphorylation; labyrinthine layer development; anti-apoptosis; positive regulation of cell proliferation; protein ubiquitination; regulation of cytokinesis; regulation of cell proliferation | 2p22.3 |
| BIRC6-AS1 | - | - |
| BIRC7 | regulation of natural killer cell apoptosis; apoptotic process; DNA fragmentation involved in apoptotic nuclear change; anti-apoptosis; activation of JUN kinase activity; protein ubiquitination; regulation of cell proliferation | 20q13.3 |
| BIVM | - | 13q33.1 |
| BLACAT1 | - | 1q32.1 |
| BLACE | - | 7q36 |
| BLCAP | apoptotic process; cell cycle | 20q11.23 |
| BLID | apoptotic process | 11q24.1 |
| BLK | positive regulation of insulin secretion; B cell receptor signaling pathway; intracellular protein kinase cascade | 8p23-p22 |
| BLM | negative regulation of cell division; chromosome organization; protein oligomerization; regulation of binding; replication fork protection; positive regulation of alpha-beta T cell proliferation; alpha-beta T cell differentiation; negative regulation of mitotic recombination; negative regulation of DNA recombination; positive regulation of transcription, DNA-dependent; G2/M transition DNA damage checkpoint; regulation of cyclin-dependent protein kinase activity; G2 phase of mitotic cell cycle; telomere maintenance; double-strand break repair via homologous recombination; DNA strand renaturation; ATP catabolic process; DNA replication; response to DNA damage stimulus; response to X-ray; replication fork processing; cellular metabolic process; DNA recombination; DNA repair | 15q26.1 |
| BLMH | proteolysis; metabolic process; response to toxin; response to drug; antigen processing and presentation of peptide antigen via MHC class I; protein polyubiquitination | 17q11.2 |
| BLNK | intracellular signal transduction; inflammatory response; humoral immune response; transmembrane receptor protein tyrosine kinase signaling pathway; B cell differentiation | 10q23.2-q23.33 |
| BLOC1S1 | post-Golgi vesicle-mediated transport; cellular membrane organization; melanosome organization; platelet dense granule organization | 12q13-q14 |
| BLOC1S2 | platelet dense granule organization; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of apoptotic process; melanosome organization; positive regulation of cell proliferation; microtubule nucleation | 10q24.31 |
| BLOC1S3 | cellular membrane organization; eye development; post-Golgi vesicle-mediated transport; platelet activation; melanosome organization; positive regulation of natural killer cell activation; secretion of lysosomal enzymes; response to drug; pigmentation; developmental pigmentation; platelet dense granule organization | 19q13.32 |
| BLOC1S4 | - | 4p16.1 |
| BLOC1S5 | - | 6p25.1-p24.3 |
| BLOC1S6 | - | 15q21.1 |
| BLVRA | small molecule metabolic process; oxidation-reduction process; heme catabolic process; porphyrin-containing compound metabolic process | 7p13 |
| BLVRB | porphyrin-containing compound metabolic process; heme catabolic process; small molecule metabolic process | 19q13.1-q13.2 |
| BLZF1 | Golgi to plasma membrane protein transport; protein transport; cell proliferation; Golgi organization; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; regulation of cell growth; vesicle-mediated transport | 1q24 |
| BLZF2P | - | 14q24.1 |
| BMF | activation of pro-apoptotic gene products; induction of apoptosis by intracellular signals; apoptotic process; regulation of apoptotic process; positive regulation of release of cytochrome c from mitochondria; positive regulation of protein homooligomerization | 15q14 |
| BMI1 | positive regulation of immature T cell proliferation in thymus; humoral immune response; segment specification; brain development; regulation of gene expression; chromatin modification; histone acetylation; histone ubiquitination; rostrocaudal neural tube patterning; hemopoiesis; positive regulation of B cell proliferation; regulation of transcription, DNA-dependent; in utero embryonic development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process; somatic stem cell division; positive regulation of fibroblast proliferation; embryonic skeletal system morphogenesis; positive regulation of ubiquitin-protein ligase activity | 10p11.23 |
| BMP1 | positive regulation of cartilage development; small molecule metabolic process; lipoprotein metabolic process; cell differentiation; multicellular organismal development; lipid metabolic process; proteolysis; ossification; cartilage condensation; skeletal system development | 8p21.3 |
| BMP10 | ventricular cardiac muscle cell development; adult heart development; positive regulation of pathway-restricted SMAD protein phosphorylation; negative regulation of cell growth; negative regulation of cell migration; BMP signaling pathway; activin receptor signaling pathway; growth; sarcomere organization; positive regulation of transcription, DNA-dependent; atrial cardiac muscle tissue morphogenesis; Notch signaling pathway; multicellular organismal development; negative regulation of endothelial cell migration; positive regulation of cardiac muscle hypertrophy; negative regulation of cardiac muscle hypertrophy; ventricular cardiac muscle tissue morphogenesis; cardiac muscle cell proliferation; positive regulation of cardiac muscle cell proliferation; pathway-restricted SMAD protein phosphorylation; heart trabecula formation | 2p13.3 |
| BMP15 | granulosa cell development; female gamete generation; ovarian follicle development | Xp11.2 |
| BMP2 | positive regulation of apoptotic process; cellular response to growth factor stimulus; cellular response to organic cyclic compound; mesenchymal cell proliferation involved in ureteric bud development; positive regulation of ossification; positive regulation of osteoblast differentiation; positive regulation of neuron differentiation; positive regulation of fat cell differentiation; cell fate commitment; positive regulation of cartilage development; ovulation cycle; regulation of odontogenesis of dentin-containing tooth; positive regulation of odontogenesis; odontogenesis of dentin-containing tooth; bone mineralization involved in bone maturation; embryonic heart tube anterior/posterior pattern specification; cardiac cell differentiation; positive regulation of osteoblast proliferation; cardiac muscle tissue morphogenesis; negative regulation of cell cycle; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA po | 20p12 |
| BMP2K | regulation of bone mineralization; regulation of catalytic activity | 4q21.21 |
| BMP3 | skeletal system development; ossification; cell-cell signaling; multicellular organismal development; cell differentiation; growth; positive regulation of transcription from RNA polymerase II promoter; cartilage development | 4q21 |
| BMP4 | negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; negative regulation of phosphorylation; monocyte differentiation; macrophage differentiation; positive regulation of bone mineralization; BMP signaling pathway; positive regulation of BMP signaling pathway; positive regulation of collagen biosynthetic process; negative regulation of T cell differentiation in thymus; negative regulation of immature T cell proliferation in thymus; protein localization to nucleus; tendon cell differentiation; deltoid tuberosity development; growth; telencephalon development; odontogenesis; positive regulation of apoptotic process; negative regulation of apoptotic process; steroid hormone mediated signaling pathway; negative regulation of MAP kinase activity; negative regulation of myoblast differentiation; positive regulation of osteoblast differentiation; positive regulation of ossification; negative regulation of cell cycle; negative regulation of mitosis; negative regulat | 14q22-q23 |
| BMP5 | cell differentiation; cartilage development; growth; male genitalia development; pattern specification process; ossification; skeletal system development | 6p12.1 |
| BMP6 | positive regulation of transcription from RNA polymerase II promoter; SMAD protein signal transduction; cartilage development; positive regulation of osteoblast differentiation; positive regulation of neuron differentiation; positive regulation of endothelial cell differentiation; growth; positive regulation of aldosterone biosynthetic process; male genitalia development; BMP signaling pathway; positive regulation of pathway-restricted SMAD protein phosphorylation; positive regulation of bone mineralization; skeletal system development; eye development; kidney development; positive regulation of endothelial cell proliferation; endochondral ossification; inflammatory response; immune response; multicellular organismal development | 6p24-p23 |
| BMP7 | negative regulation of Notch signaling pathway; negative regulation of neurogenesis; neuron projection morphogenesis; mesenchymal cell differentiation; cartilage development; branching morphogenesis of a tube; anatomical structure formation involved in morphogenesis; embryonic camera-type eye morphogenesis; cell development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of mitosis; negative regulation of cell cycle; positive regulation of apoptotic process; embryonic skeletal joint morphogenesis; pathway-restricted SMAD protein phosphorylation; SMAD protein signal transduction; branching involved in salivary gland morphogenesis; mesenchyme development; negative regulation of cell death; negative regulation of prostatic bud formation; regulation of branching involved in prostate gland morphogenesis; monocyte aggregation; cellular response to hypoxia; negative reg | 20q13 |
| BMP8A | ossification; multicellular organismal development; cell differentiation; growth; cartilage development | 1p34.3 |
| BMP8B | ossification; skeletal system development; cell differentiation; growth; cartilage development; multicellular organismal development | 1p35-p32 |
| BMPER | negative regulation of BMP signaling pathway; regulation of endothelial cell migration; blood vessel endothelial cell proliferation involved in sprouting angiogenesis; ureteric bud development; endothelial cell activation; regulation of pathway-restricted SMAD protein phosphorylation; positive regulation of ERK1 and ERK2 cascade | 7p14.3 |
| BMPR1A | BMP signaling pathway; lateral mesoderm development; hindlimb morphogenesis; odontogenesis of dentin-containing tooth; embryonic digit morphogenesis; positive regulation of osteoblast differentiation; paraxial mesoderm development; paraxial mesoderm structural organization; regulation of lateral mesodermal cell fate specification; mesendoderm development; embryonic organ development; developmental growth; positive regulation of epithelial cell proliferation; negative regulation of neurogenesis; cartilage development; palate development; positive regulation of SMAD protein import into nucleus; neural plate pattern specification; heart formation; lung development; in utero embryonic development; mesoderm formation; somitogenesis; Mullerian duct regression; positive regulation of mesenchymal cell proliferation; endocardial cushion formation; protein phosphorylation; immune response; transforming growth factor beta receptor signaling pathway; ectoderm development; nervous system development; dorsal/ventral axis s | 10q22.3 |
| BMPR1APS1 | - | 6q22.33 |
| BMPR1B | ovarian cumulus expansion; positive regulation of osteoblast differentiation; positive regulation of cell differentiation; ovulation cycle; limb morphogenesis; BMP signaling pathway; positive regulation of bone mineralization; transmembrane receptor protein serine/threonine kinase signaling pathway; protein phosphorylation; eye development; cartilage condensation; skeletal system development | 4q22-q24 |
| BMPR2 | positive regulation of pathway-restricted SMAD protein phosphorylation; negative regulation of cell growth; regulation of lung blood pressure; positive regulation of bone mineralization; BMP signaling pathway; positive regulation of BMP signaling pathway; regulation of cell proliferation; positive regulation of osteoblast differentiation; negative regulation of vasoconstriction; retina development in camera-type eye; lung alveolus development; vascular endothelial growth factor receptor signaling pathway; positive regulation of endothelial cell migration; anterior/posterior pattern specification; positive regulation of epithelial cell migration; mesoderm formation; positive regulation of endothelial cell proliferation; negative regulation of systemic arterial blood pressure; transmembrane receptor protein serine/threonine kinase signaling pathway; brain development; cellular response to starvation; transcription from RNA polymerase II promoter | 2q33-q34 |
| BMS1 | ribosome assembly | 10q11.21 |
| BMS1P1 | - | 10q11.22 |
| BMS1P2 | - | 10q11.22 |
| BMS1P20 | - | 22q11.22 |
| BMS1P4 | - | 10q22.2 |
| BMS1P5 | - | 10q11.22 |
| BMS1P6 | - | 10q11.22 |
| BMS1P7 | - | 10q11.22 |
| BMX | intracellular signal transduction; protein autophosphorylation; mesoderm development; signal transduction; cell adhesion; response to stress; apoptotic process; protein phosphorylation; cellular component disassembly involved in apoptosis | Xp22.2 |
| BNC1 | epidermis development; positive regulation of cell proliferation; regulation of transcription, DNA-dependent | 15q25.2 |
| BNC2 | regulation of transcription, DNA-dependent | 9p22.2 |
| BNIP1 | anti-apoptosis; endoplasmic reticulum membrane fusion; vesicle-mediated transport; endoplasmic reticulum organization; induction of apoptosis; apoptotic process; autophagy | 5q33-q34 |
| BNIP2 | positive regulation of muscle cell differentiation; striated muscle cell differentiation; positive regulation of small GTPase mediated signal transduction; positive regulation of neuron differentiation; positive regulation of MAPK cascade; muscle cell differentiation; anti-apoptosis; apoptotic process; positive regulation of GTPase activity | 15q22.2 |
| BNIP3 | negative regulation of membrane potential; positive regulation of mitochondrial fission; regulation of mitochondrial membrane permeability; autophagic cell death; brown fat cell differentiation; neuron apoptosis; defense response to virus; response to hyperoxia; cellular response to hydrogen peroxide; cellular response to mechanical stimulus; cellular response to cobalt ion; cellular response to hypoxia; reactive oxygen species metabolic process; interspecies interaction between organisms; mitochondrial fragmentation involved in apoptosis; positive regulation of protein complex disassembly; negative regulation of mitochondrial fusion; negative regulation of survival gene product expression; induction of apoptosis by intracellular signals; cell death; induction of apoptosis; anti-apoptosis; apoptotic process; chromatin remodeling; DNA fragmentation involved in apoptotic nuclear change; response to hypoxia; positive regulation of release of cytochrome c from mitochondria | 10q26.3 |
| BNIP3L | induction of apoptosis; negative regulation of survival gene product expression; mitochondrial protein catabolic process; negative regulation of apoptotic process; interspecies interaction between organisms; defense response to virus | 8p21 |
| BNIP3P1 | - | 14q12 |
| BNIPL | apoptotic process; regulation of growth rate; negative regulation of cell proliferation; induction of apoptosis | 1q21.3 |
| BOC | positive regulation of myoblast differentiation; positive regulation of muscle cell differentiation; muscle cell differentiation; cell adhesion | 3q13.2 |
| BOD1 | cell cycle; mitosis; cell division | 5q35.2 |
| BOD1L1 | - | 4p16.1 |
| BOK | induction of apoptosis; apoptotic process; signal transduction by p53 class mediator resulting in induction of apoptosis; oligodendrocyte differentiation; male gonad development; cell proliferation; brain development; activation of cysteine-type endopeptidase activity involved in apoptotic process | 2q37.3 |
| BOK-AS1 | - | 2q37.3 |
| BOLA1 | - | 1q21 |
| BOLA2 | - | 16p11.2 |
| BOLA2B | - | 16p11.2 |
| BOLA3 | - | 2p13.1 |
| BOLA3-AS1 | - | - |
| BOLL | positive regulation of translational initiation; cell differentiation; spermatogenesis; multicellular organismal development; meiosis; regulation of translation | 2q33 |
| BORA | regulation of mitosis; cell division; regulation of mitotic spindle organization; regulation of protein localization; cell cycle | 13q22.1 |
| BORCS5 | - | 12p12 |
| BORCS6 | - | 17p13.1 |
| BORCS7 | - | 10q24.32 |
| BORCS8 | heart development | 19p13.11 |
| BPGM | carbohydrate metabolic process; glycolysis; respiratory gaseous exchange; erythrocyte development | 7q33 |
| BPHL | cellular amino acid metabolic process; response to toxin | 6p25 |
| BPIFA1 | innate immune response | 20q11.2 |
| BPIFA2 | - | 20q11.21 |
| BPIFA3 | - | 20q11.21 |
| BPIFA4P | - | 20q11.21 |
| BPIFB1 | - | 20q11.21 |
| BPIFB2 | - | 20q11.21 |
| BPIFB3 | innate immune response | 20q11.21 |
| BPIFB4 | - | 20q11.21 |
| BPIFB5P | - | - |
| BPIFB6 | - | 20q11.21 |
| BPIFB9P | - | 20q11.21 |
| BPIFC | - | 22q12.3 |
| BPNT1 | nervous system development; xenobiotic metabolic process; nucleobase-containing compound metabolic process; dephosphorylation; small molecule metabolic process; phosphatidylinositol phosphorylation; 3'-phosphoadenosine 5'-phosphosulfate metabolic process | 1q41 |
| BPTF | negative regulation of transcription from RNA polymerase II promoter; chromatin remodeling; transcription, DNA-dependent; regulation of transcription, DNA-dependent; brain development; positive regulation of transcription, DNA-dependent | 17q24.3 |
| BPY2C | spermatogenesis; single fertilization | Yq11.223 |
| BRAF | nerve growth factor receptor signaling pathway; activation of MAPKK activity; protein phosphorylation; anti-apoptosis; small GTPase mediated signal transduction; synaptic transmission; fibroblast growth factor receptor signaling pathway; organ morphogenesis; positive regulation of peptidyl-serine phosphorylation; positive regulation of ERK1 and ERK2 cascade; response to cAMP; negative regulation of neuron apoptosis; negative regulation of apoptotic process; positive regulation of gene expression; response to peptide hormone stimulus | 7q34 |
| BRAFP1 | - | Xq13.3 |
| BRAP | protein ubiquitination; MAPK cascade; Ras protein signal transduction; negative regulation of signal transduction | 12q24 |
| BRAT1 | response to ionizing radiation | 7p22.3 |
| BRCA1 | positive regulation of histone H4-K20 methylation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of centriole replication; positive regulation of histone H3-K4 methylation; negative regulation of histone H3-K4 methylation; negative regulation of histone H3-K9 methylation; positive regulation of histone H3-K9 methylation; protein autoubiquitination; positive regulation of cell cycle arrest; protein K6-linked ubiquitination; regulation of cell motility; positive regulation of histone H3-K9 acetylation; positive regulation of histone H4-K16 acetylation; cellular response to indole-3-methanol; regulation of transcription from RNA polymerase II promoter; response to nutrient; brain development; centrosome cycle; chromosome segregation; cell cycle; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; response to DNA damage stimulus; apoptotic process; regulatio | 17q21 |
| BRCA2 | DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; multicellular organism growth; negative regulation of mammary gland epithelial cell proliferation; cell cycle cytokinesis; regulation of cytokinesis; response to estradiol stimulus; homologous chromosome orientation involved in meiotic metaphase I plate congression; mammary gland development; hemopoiesis; chordate embryonic development; histone H3 acetylation; histone H4 acetylation; positive regulation of transcription, DNA-dependent; positive regulation of mitotic cell cycle; replication fork protection; inner cell mass cell proliferation; chromosome organization; centrosome duplication; response to UV-C; double-strand break repair via homologous recombination; oocyte maturation; DNA repair; nucleotide-excision repair; double-strand break repair; DNA recombination; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; cell cycle; regulation of S phase | 13q12.3 |
| BRCC3 | histone H2A K63-linked deubiquitination; double-strand break repair; proteolysis; response to X-ray; chromatin modification; G2/M transition DNA damage checkpoint; positive regulation of DNA repair; protein K63-linked deubiquitination; response to ionizing radiation; regulation of catalytic activity | Xq28 |
| BRD1 | chromatin modification; histone H3 acetylation | 22q13.33 |
| BRD2 | spermatogenesis | 6p21.3 |
| BRD3 | - | 9q34 |
| BRD4 | regulation of transcription involved in G1 phase of mitotic cell cycle; positive regulation of DNA binding; histone H4-K12 acetylation; histone H3-K14 acetylation; interspecies interaction between organisms; positive regulation of transcription elongation from RNA polymerase II promoter; inner cell mass cell proliferation; positive regulation of G2/M transition of mitotic cell cycle; protein phosphorylation; chromosome segregation | 19p13.1 |
| BRD7 | negative regulation of G1/S transition of mitotic cell cycle; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of histone acetylation; regulation of transcription from RNA polymerase II promoter; cell cycle; Wnt receptor signaling pathway; negative regulation of cell proliferation | 16q12 |
| BRD7P1 | - | 14q11.2 |
| BRD7P2 | - | 3q25.33 |
| BRD7P3 | - | 6q22.31 |
| BRD7P4 | - | 6q21 |
| BRD7P5 | - | 13q32.1 |
| BRD8 | regulation of growth; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; signal transduction; cell surface receptor signaling pathway; chromatin modification; histone H4 acetylation; histone H2A acetylation | 5q31 |
| BRD9 | - | 5p15.33 |
| BRDT | chromatin remodeling; regulation of transcription, DNA-dependent | 1p22.1 |
| BRDTP1 | - | Xq21.33 |
| BRE | G2/M transition DNA damage checkpoint; positive regulation of DNA repair; positive regulation of anti-apoptosis; chromatin modification; response to ionizing radiation; signal transduction; response to DNA damage stimulus; double-strand break repair; apoptotic process | 2p23.2 |
| BRE-AS1 | - | 2p23 |
| BRF1 | regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; gene expression; tRNA transcription; rRNA transcription; transcription initiation from RNA polymerase III promoter; transcription from RNA polymerase III promoter; transcription initiation, DNA-dependent | 14q |
| BRF2 | transcription initiation, DNA-dependent; regulation of transcription, DNA-dependent; transcription from RNA polymerase III promoter; gene expression | 8p11.23 |
| BRI3 | - | 7q21.3 |
| BRI3BP | - | 12q24.31 |
| BRICD5 | - | 16p13.3 |
| BRINP1 | negative regulation of cell cycle; cell death; cell cycle arrest | 9q32-q33 |
| BRINP2 | nervous system development; negative regulation of cell cycle | 1q24 |
| BRINP3 | negative regulation of cell cycle; nervous system development | 1q31.1 |
| BRIP1 | regulation of transcription from RNA polymerase II promoter; double-strand break repair; nucleobase-containing compound metabolic process; DNA damage checkpoint | 17q22.2 |
| BRIX1 | ribosome biogenesis | 5p13.2 |
| BRK1 | - | 3p25.3 |
| BRK1P2 | - | - |
| BRMS1 | negative regulation of anti-apoptosis; negative regulation of transcription, DNA-dependent; positive regulation of protein deacetylation; positive regulation of anoikis; apoptotic process; negative regulation of NF-kappaB transcription factor activity | 11q13-q13.2 |
| BRMS1L | regulation of growth; regulation of transcription, DNA-dependent | 14q13.2 |
| BROX | - | 1q41 |
| BRPF1 | positive regulation of transcription, DNA-dependent; chromatin modification; histone H3 acetylation | 3p26-p25 |
| BRPF3 | platelet degranulation; blood coagulation; chromatin modification; platelet activation; histone H3 acetylation | 6p21 |
| BRS3 | bombesin receptor signaling pathway; glucose metabolic process; regulation of blood pressure; adult feeding behavior | Xq26.3 |
| BRSK1 | axonogenesis; cell cycle; response to UV; response to DNA damage stimulus; protein phosphorylation; nervous system development; response to ionizing radiation; establishment of cell polarity; neuron differentiation; G2/M transition DNA damage checkpoint; centrosome duplication; neurotransmitter secretion | 19q13.4 |
| BRSK2 | protein phosphorylation; nervous system development; axonogenesis; neuron differentiation; establishment of cell polarity | 11p15.5 |
| BRWD1 | cytoskeleton organization; regulation of transcription from RNA polymerase II promoter; regulation of cell shape | 21q22.2 |
| BRWD1-AS1 | - | - |
| BRWD1-IT2 | - | 21q22.2 |
| BRWD3 | regulation of cell shape; cytoskeleton organization | Xq21.1 |
| BSCL2 | cell death | 11q13 |
| BSDC1 | - | 1p35.1 |
| BSG | pyruvate metabolic process; cell surface receptor signaling pathway; response to cAMP; leukocyte migration; decidualization; response to mercury ion; embryo implantation; small molecule metabolic process; response to peptide hormone stimulus; odontogenesis of dentin-containing tooth; lactate transmembrane transport; blood coagulation | 19p13.3 |
| BSN | synaptic transmission | 3p21.31 |
| BSND | chloride transport | 1p32.1 |
| BSPRY | calcium ion transport; ion transport | 9q32 |
| BST1 | multicellular organismal development; humoral immune response | 4p15 |
| BST2 | defense response to virus; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; B cell activation; cell proliferation; humoral immune response; multicellular organismal development; cell-cell signaling; signal transduction | 19p13.1 |
| BSX | locomotory behavior; eating behavior; positive regulation of transcription from RNA polymerase II promoter; mammary gland involution | 11q24.1 |
| BTAF1 | negative regulation of transcription, DNA-dependent | 10q22-q23 |
| BTBD1 | regulation of protein binding | 15q24 |
| BTBD10 | - | 11p15.2 |
| BTBD11 | - | 12q23.3 |
| BTBD16 | - | 10q26.13 |
| BTBD18 | - | 11q12.1 |
| BTBD19 | - | 1p34.1 |
| BTBD2 | - | 19p13.3 |
| BTBD3 | - | 20p12.2 |
| BTBD6 | - | 14q32 |
| BTBD7 | - | 14q32.12 |
| BTBD8 | - | 1p22.1 |
| BTBD9 | cell adhesion | 6p21 |
| BTC | positive regulation of cell proliferation; negative regulation of apoptotic process; positive regulation of cell division | 4q13.3 |
| BTD | nitrogen compound metabolic process; central nervous system development; epidermis development | 3p25 |
| BTF3 | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; in utero embryonic development | 5q13.2 |
| BTF3L4 | - | 1p32.3 |
| BTF3L4P1 | - | - |
| BTF3L4P3 | - | 6q23.3 |
| BTF3L4P4 | - | 4q32.3 |
| BTF3P10 | - | 6q25.1 |
| BTF3P11 | - | 13q22 |
| BTF3P12 | - | 8q13.3 |
| BTF3P4 | - | 9q21.13 |
| BTF3P5 | - | 2p16.1 |
| BTF3P7 | - | 6p25.1 |
| BTG1 | positive regulation of angiogenesis; regulation of transcription, DNA-dependent; negative regulation of cell proliferation; cell migration; negative regulation of cell growth; regulation of apoptotic process; positive regulation of endothelial cell differentiation; positive regulation of myoblast differentiation | 12q22 |
| BTG1P1 | - | 12p13.31 |
| BTG2 | negative regulation of cell proliferation; negative regulation of apoptotic process; DNA repair; regulation of transcription, DNA-dependent; protein methylation; negative regulation of neural precursor cell proliferation; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening; response to electrical stimulus; positive regulation of anti-apoptosis; response to DNA damage stimulus; response to organic cyclic compound; associative learning; response to mechanical stimulus; anterior/posterior pattern specification; response to organic nitrogen; response to peptide hormone stimulus; neuron projection development; neuron differentiation; central nervous system neuron development; dentate gyrus development | 1q32 |
| BTG3 | negative regulation of cell proliferation; negative regulation of mitotic cell cycle | 21q21.1 |
| BTG4 | neuron differentiation; negative regulation of mitotic cell cycle; negative regulation of cell proliferation; cell cycle arrest | 11q23 |
| BTK | protein phosphorylation; apoptotic process; regulation of B cell cytokine production; I-kappaB kinase/NF-kappaB cascade; mesoderm development; induction of apoptosis by extracellular signals; peptidyl-tyrosine phosphorylation; calcium-mediated signaling; intracellular signal transduction; adaptive immune response; B cell activation; innate immune response; positive regulation of B cell differentiation; cell maturation; B cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; regulation of transcription, DNA-dependent; regulation of B cell apoptosis | Xq21.33-q22 |
| BTLA | T cell costimulation | 3q13.2 |
| BTN1A1 | negative regulation of cytokine secretion; negative regulation of activated T cell proliferation; negative regulation of cellular metabolic process | 6p22.1 |
| BTN2A1 | lipid metabolic process | 6p22.1 |
| BTN2A2 | negative regulation of cellular metabolic process; negative regulation of activated T cell proliferation; negative regulation of cytokine secretion | 6p22.1 |
| BTN2A3P | - | 6p22.1 |
| BTN3A1 | lipid metabolic process | 6p22.1 |
| BTN3A2 | - | 6p22.1 |
| BTN3A3 | - | 6p21.3 |
| BTNL3 | lipid metabolic process | 5q35.3 |
| BTNL8 | - | 5q35.3 |
| BTNL9 | - | 5q35.3 |
| BTRC | positive regulation of transcription, DNA-dependent; regulation of proteasomal protein catabolic process; cellular response to organic cyclic compound; protein catabolic process; negative regulation of sequence-specific DNA binding transcription factor activity; interspecies interaction between organisms; positive regulation of proteolysis; negative regulation of smoothened signaling pathway; negative regulation of transcription, DNA-dependent; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of circadian rhythm; mammary gland epithelial cell proliferation; protein destabilization; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; branching involved in mammary gland duct morphogenesis; protein ubiquitination; Wnt receptor signaling pathway; viral reprod | 10q24.32 |
| BUB1 | interspecies interaction between organisms; spindle assembly checkpoint; regulation of chromosome segregation; cell division; embryo development; cell proliferation; mitotic cell cycle spindle assembly checkpoint; mitotic cell cycle checkpoint; regulation of sister chromatid cohesion; apoptotic process; protein phosphorylation; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 2q14 |
| BUB1B | cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; protein localization to kinetochore; cell cycle checkpoint; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; protein phosphorylation; apoptotic process; spindle organization; mitosis; mitotic metaphase/anaphase transition; mitotic cell cycle checkpoint; mitotic cell cycle spindle assembly checkpoint; cell proliferation; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; phosphatidylinositol-mediated signaling | 15q15 |
| BUB3 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mitotic cell cycle; mitotic cell cycle spindle assembly checkpoint; meiosis; attachment of spindle microtubules to kinetochore; cell division; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of chromosome segregation; spindle assembly checkpoint; mitotic sister chromatid segregation; cell cycle checkpoint; M phase of mitotic cell cycle; mitotic prometaphase | 10q26 |
| BUD13 | mRNA export from nucleus; nuclear mRNA splicing, via spliceosome | 11q23.3 |
| BUD31 | regulation of transcription from RNA polymerase II promoter | 7q22.1 |
| BVES | regulation of Cdc42 GTPase activity; muscle organ development; multicellular organismal development; cell adhesion; positive regulation of receptor recycling; substrate adhesion-dependent cell spreading; regulation of Rac GTPase activity; vesicle-mediated transport; epithelial cell-cell adhesion; regulation of cell shape; positive regulation of locomotion | 6q21 |
| BVES-AS1 | - | 6q21 |
| BYSL | ribosome biogenesis; female pregnancy; cell adhesion | 6p21.1 |
| BZRAP1 | - | 17q22-q23 |
| BZRAP1-AS1 | - | - |
| BZW1 | regulation of transcription, DNA-dependent; RNA metabolic process | 2q33 |
| BZW1P1 | - | 3q26.31 |
| BZW2 | RNA metabolic process; cell differentiation; nervous system development; multicellular organismal development | 7p21.1 |
| C10orf10 | - | 10q11.21 |
| C10orf107 | - | 10q21.2 |
| C10orf11 | - | 10q22.3 |
| C10orf111 | - | 10p13 |
| C10orf112 | - | 10p12.31 |
| C10orf113 | - | 10p12.31 |
| C10orf12 | - | 10q24.1 |
| C10orf120 | - | 10q26.13 |
| C10orf128 | - | 10q11.23 |
| C10orf131 | - | 10q24.1 |
| C10orf2 | DNA unwinding involved in replication; transcription from mitochondrial promoter; cell death; protein hexamerization; protein homooligomerization; mitochondrial DNA replication; DNA replication | 10q24 |
| C10orf25 | - | 10q11.21 |
| C10orf35 | - | 10q22.1 |
| C10orf54 | - | 10q22.1 |
| C10orf55 | - | 10q22.2 |
| C10orf62 | - | 10q24.2 |
| C10orf67 | - | 10p12.2 |
| C10orf71 | - | 10q11.23 |
| C10orf71-AS1 | - | - |
| C10orf76 | - | 10q24.32 |
| C10orf82 | - | 10q25.3 |
| C10orf85 | - | 10q26.12 |
| C10orf88 | - | 10q26.13 |
| C10orf90 | mitotic cell cycle G2/M transition DNA damage checkpoint; response to DNA damage stimulus; protein stabilization; negative regulation of cell growth; response to ionizing radiation; response to UV | 10q26.2 |
| C10orf91 | - | 10q26.3 |
| C10orf99 | - | 10q23.1 |
| C11orf1 | - | 11q23.1 |
| C11orf16 | - | 11p15.3 |
| C11orf21 | - | 11p15.5 |
| C11orf24 | - | 11q13 |
| C11orf31 | cell redox homeostasis | 11q12.1 |
| C11orf39 | - | 11q25 |
| C11orf44 | - | 11q24.3 |
| C11orf45 | - | 11q24.3 |
| C11orf49 | - | 11p11.2 |
| C11orf52 | - | 11q23.1 |
| C11orf53 | - | 11q23.1 |
| C11orf54 | - | 11q21 |
| C11orf57 | - | 11q23.1 |
| C11orf58 | - | 11p15.1 |
| C11orf63 | - | 11q24.1 |
| C11orf65 | - | 11q22.3 |
| C11orf68 | - | 11q13.1 |
| C11orf70 | - | 11q22.1 |
| C11orf71 | - | 11q23.2 |
| C11orf73 | multicellular organismal development; Golgi organization; lung development | 11q14.2 |
| C11orf74 | - | 11p12 |
| C11orf80 | - | 11q13.2 |
| C11orf84 | - | 11q13.1 |
| C11orf85 | - | 11q13.1 |
| C11orf86 | - | 11q13.2 |
| C11orf87 | - | 11q22.3 |
| C11orf88 | - | 11q23.1 |
| C11orf95 | - | 11q13 |
| C11orf96 | - | 11p11.2 |
| C12orf10 | pigmentation | 12q13 |
| C12orf29 | - | 12q21.32 |
| C12orf4 | - | 12p13.3 |
| C12orf40 | - | 12q12 |
| C12orf42 | - | 12q23.2 |
| C12orf43 | - | 12q |
| C12orf45 | - | 12q23.3 |
| C12orf49 | - | 12q24.22 |
| C12orf50 | - | 12q21.32 |
| C12orf54 | - | 12q13.11 |
| C12orf55 | - | 12q23.1 |
| C12orf56 | - | 12q14.2 |
| C12orf57 | - | 12p13.31 |
| C12orf60 | - | 12p12.3 |
| C12orf65 | translational termination | 12q24.31 |
| C12orf66 | - | 12q14.2 |
| C12orf73 | - | 12q23.3 |
| C12orf75 | - | 12q23.3 |
| C12orf76 | - | 12q24.11 |
| C12orf80 | - | 12q13.13 |
| C14orf1 | sterol biosynthetic process | 14q24.3 |
| C14orf105 | - | 14q22.3 |
| C14orf119 | - | 14q11.2 |
| C14orf132 | - | 14q32.2 |
| C14orf142 | - | 14q32.12 |
| C14orf144 | - | 14q32.33 |
| C14orf159 | - | 14q32.11 |
| C14orf166 | positive regulation of transcription from RNA polymerase II promoter | 14q22.1 |
| C14orf169 | negative regulation of transcription, DNA-dependent; chromatin modification; histone H3-K4 demethylation; negative regulation of osteoblast differentiation; histone H3-K36 demethylation | 14q24.3 |
| C14orf2 | - | 14q32.33 |
| C14orf28 | - | 14q21.2 |
| C14orf37 | - | 14q23.1 |
| C14orf39 | regulation of sequence-specific DNA binding transcription factor activity; multicellular organismal development | 14q23.1 |
| C14orf79 | - | 14q32.33 |
| C14orf80 | - | 14q32.33 |
| C14orf93 | - | 14q11.2 |
| C15orf39 | - | 15q24.2 |
| C15orf40 | - | 15q25.2 |
| C15orf41 | - | 15q14 |
| C15orf48 | - | 15q21.1 |
| C15orf52 | - | 15q15.1 |
| C15orf53 | - | 15q14 |
| C15orf54 | - | 15q14 |
| C15orf56 | - | 15q15.1 |
| C15orf57 | - | 15q15.1 |
| C15orf59 | - | 15q24.1 |
| C15orf61 | - | 15q23 |
| C15orf62 | - | 15q15.1 |
| C15orf65 | - | 15q21.3 |
| C16orf13 | - | 16p13.3 |
| C16orf45 | - | 16p13.11 |
| C16orf46 | - | 16q23.2 |
| C16orf47 | - | 16q22.3 |
| C16orf52 | - | 16p12.2 |
| C16orf54 | - | 16p11.2 |
| C16orf58 | - | 16p11.2 |
| C16orf59 | - | 16p13.3 |
| C16orf62 | - | 16p12.3 |
| C16orf70 | Golgi to plasma membrane protein transport | 16q22.1 |
| C16orf71 | - | 16p13.3 |
| C16orf72 | - | 16p13.2 |
| C16orf74 | - | 16q24.1 |
| C16orf78 | - | 16q12.1 |
| C16orf82 | - | 16p12.1 |
| C16orf86 | - | 16q22.1 |
| C16orf87 | - | 16q11.2 |
| C16orf89 | - | 16p13.3 |
| C16orf90 | - | 16p13.3 |
| C16orf91 | - | 16p13.3 |
| C16orf92 | - | 16p11.2 |
| C16orf95 | - | 16q24.2 |
| C16orf96 | - | 16p13.3 |
| C16orf97 | - | 16q12.1 |
| C17orf100 | - | 17p13.1 |
| C17orf105 | - | 17q21.31 |
| C17orf107 | - | 17p13.2 |
| C17orf112 | - | - |
| C17orf47 | - | 17q22 |
| C17orf49 | chromatin modification | 17p13.1 |
| C17orf50 | - | 17q12 |
| C17orf51 | - | 17p11.2 |
| C17orf53 | - | 17q21.31 |
| C17orf58 | - | 17q24.2 |
| C17orf62 | - | 17q25.3 |
| C17orf64 | - | 17q23.2 |
| C17orf67 | - | 17q22 |
| C17orf74 | - | 17p13.1 |
| C17orf75 | spermatogenesis | 17q11.2 |
| C17orf77 | - | 17q25.1 |
| C17orf78 | - | 17q12 |
| C17orf80 | - | 17q25.1 |
| C17orf89 | - | 17q25.3 |
| C17orf96 | - | 17q12 |
| C17orf97 | - | 17p13.3 |
| C17orf99 | - | 17q25.3 |
| C18orf12 | - | 18q21.1 |
| C18orf15 | - | 18p11.21 |
| C18orf21 | - | 18q12.2 |
| C18orf25 | - | 18q21.1 |
| C18orf32 | signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 18q21.1 |
| C18orf42 | - | 18p11.31 |
| C18orf54 | - | 18q21.2 |
| C18orf61 | - | 18p11.22 |
| C18orf63 | - | 18q22.3 |
| C18orf65 | - | 18q23 |
| C18orf8 | - | 18q11.2 |
| C19orf12 | cell death | 19q12 |
| C19orf18 | - | 19q13.43 |
| C19orf24 | - | 19p13.3 |
| C19orf25 | - | 19p13.3 |
| C19orf33 | - | 19q13.2 |
| C19orf38 | - | 19p13.2 |
| C19orf43 | - | 19p13.2 |
| C19orf44 | - | 19p13.11 |
| C19orf45 | - | 19p13.2 |
| C19orf47 | - | 19q13.2 |
| C19orf48 | - | 19q13.33 |
| C19orf52 | - | 19p13.2 |
| C19orf53 | - | 19p13.2 |
| C19orf54 | - | 19q13.2 |
| C19orf57 | multicellular organismal development | 19p13.12 |
| C19orf60 | - | 19p13.11 |
| C19orf66 | - | 19p13.2 |
| C19orf67 | - | 19p13.12 |
| C19orf68 | - | 19q13.33 |
| C19orf70 | - | 19p13.3 |
| C19orf71 | - | 19p13.3 |
| C19orf81 | - | 19q13.33 |
| C1D | negative regulation of transcription, DNA-dependent; maturation of 5.8S rRNA; apoptotic process | 2p13-p12 |
| C1DP1 | - | 10p11.22 |
| C1DP2 | - | 10q22.3 |
| C1DP3 | - | 10q22.3 |
| C1GALT1 | cellular protein metabolic process; O-glycan processing; multicellular organismal development; kidney development; angiogenesis; cell differentiation; post-translational protein modification | 7p21.3 |
| C1GALT1C1 | O-glycan processing; post-translational protein modification; cellular protein metabolic process | Xq24 |
| C1GALT1C1L | - | 2p21 |
| C1orf101 | - | 1q44 |
| C1orf105 | - | 1q24.3 |
| C1orf106 | - | 1q32.1 |
| C1orf109 | - | 1p34.3 |
| C1orf112 | - | 1q24.2 |
| C1orf115 | - | 1q41 |
| C1orf116 | - | 1q32.1 |
| C1orf122 | - | 1p34.3 |
| C1orf123 | - | 1p32.3 |
| C1orf127 | - | 1p36.22 |
| C1orf131 | - | 1q42.2 |
| C1orf132 | - | 1q32.2 |
| C1orf138 | - | 1q21.2 |
| C1orf140 | - | 1q41 |
| C1orf141 | - | 1p31.3 |
| C1orf143 | - | 1q41 |
| C1orf145 | - | 1q42.13 |
| C1orf148 | - | 1q42.13 |
| C1orf158 | - | 1p36.21 |
| C1orf159 | - | 1p36.33 |
| C1orf162 | - | 1p13.2 |
| C1orf167 | - | 1p36.22 |
| C1orf168 | - | 1p32.2 |
| C1orf174 | - | 1p36.32 |
| C1orf185 | - | 1p32.3 |
| C1orf186 | - | 1q32.1 |
| C1orf191 | - | 1p32.3 |
| C1orf194 | - | 1p13.3 |
| C1orf195 | - | 1p36.21 |
| C1orf198 | - | 1q42.2 |
| C1orf204 | - | 1q23.2 |
| C1orf21 | - | 1q25 |
| C1orf210 | - | 1p34.2 |
| C1orf216 | - | 1p34.3 |
| C1orf220 | - | 1q25.2 |
| C1orf222 | - | 1p36.33 |
| C1orf226 | - | 1q23.3 |
| C1orf228 | - | 1p34.1 |
| C1orf233 | - | 1p36.33 |
| C1orf234 | - | 1p36.12 |
| C1orf27 | - | 1q25 |
| C1orf35 | - | 1q42.13 |
| C1orf43 | - | 1q21.2 |
| C1orf50 | - | 1p34.2 |
| C1orf52 | - | 1p22.3 |
| C1orf53 | - | 1q31.3 |
| C1orf54 | - | 1q21.2 |
| C1orf56 | - | 1q21.3 |
| C1orf61 | - | 1q22 |
| C1orf64 | - | 1p36.13 |
| C1orf68 | epidermis development | 1q21.3 |
| C1orf74 | - | 1q32.2 |
| C1orf87 | - | 1p32.1 |
| C1orf94 | - | 1p34.3 |
| C1QB | aging; complement activation, classical pathway; complement activation; brain development; response to glucocorticoid stimulus; innate immune response; response to organic substance | 1p36.12 |
| C1QBP | interspecies interaction between organisms; blood coagulation, intrinsic pathway; blood coagulation; immune response | 17p13.3 |
| C1QBPP | - | 21q21.1 |
| C1QC | negative regulation of granulocyte differentiation; complement activation, classical pathway; immune response; complement activation; negative regulation of macrophage differentiation; innate immune response | 1p36.11 |
| C1QL1 | locomotory behavior | 17q21 |
| C1QL3 | - | 10p13 |
| C1QL4 | - | 12q13.12 |
| C1QTNF1 | protein homooligomerization | 17q25.3 |
| C1QTNF1-AS1 | - | - |
| C1QTNF2 | positive regulation of fatty acid oxidation; positive regulation of glycogen biosynthetic process; activation of MAPK activity; positive regulation of glucose import; protein homooligomerization | 5q33.3 |
| C1QTNF3 | negative regulation of gluconeogenesis | 5p13 |
| C1QTNF5 | - | 11q23.3 |
| C1QTNF6 | - | 22q13.1 |
| C1QTNF9 | - | 13q12.12 |
| C1QTNF9-AS1 | - | - |
| C1QTNF9B | - | 13q12.12 |
| C1QTNF9B-AS1 | - | 13q12 |
| C1R | innate immune response; complement activation, classical pathway; complement activation; immune response; proteolysis | 12p13 |
| C1RL | innate immune response; proteolysis; complement activation, classical pathway | 12p13.31 |
| C1RL-AS1 | - | 12p13.31 |
| C1S | complement activation, classical pathway; glial cell differentiation; innate immune response; response to cAMP; complement activation; proteolysis | 12p13 |
| C2 | complement activation; innate immune response; complement activation, classical pathway; proteolysis | 6p21.3 |
| C20orf141 | - | 20p13 |
| C20orf144 | - | 20q11.22 |
| C20orf166-AS1 | - | 20q13.33 |
| C20orf173 | - | 20q11.22 |
| C20orf181 | - | 20q13.33 |
| C20orf187 | - | 20p12.2 |
| C20orf194 | - | 20p13 |
| C20orf195 | - | 20q13.33 |
| C20orf196 | - | 20p12.3 |
| C20orf197 | - | 20q13.33 |
| C20orf202 | - | 20p13 |
| C20orf203 | - | 20q11.21 |
| C20orf24 | - | 20q11.23 |
| C20orf27 | - | 20p13 |
| C20orf57 | - | 20q11.21 |
| C20orf96 | - | 20p13 |
| C21orf15 | - | 21q11 |
| C21orf2 | cytoskeleton organization; regulation of cell shape | 21q22.3 |
| C21orf33 | - | 21q22.3 |
| C21orf58 | - | 21q22.3 |
| C21orf59 | - | 21q22.1 |
| C21orf62 | - | 21q22.11 |
| C21orf62-AS1 | - | 21q22.11 |
| C21orf91 | - | 21q21.1 |
| C21orf91-OT1 | - | 21q21.1 |
| C22orf15 | - | 22q11.23 |
| C22orf23 | - | 22q13.1 |
| C22orf24 | - | 22q12.1-q12.3 |
| C22orf29 | - | 22q11.21 |
| C22orf34 | - | 22q13.33 |
| C22orf39 | - | 22q11.21 |
| C22orf42 | - | 22q12.3 |
| C22orf46 | - | 22q13.2 |
| C2CD2 | - | 21q22.3 |
| C2CD2L | - | 11q23.3 |
| C2CD3 | - | 11q13.4 |
| C2CD4A | - | 15q22.2 |
| C2CD4B | - | 15q22.2 |
| C2CD4C | - | 19p13.3 |
| C2CD4D | - | 1q21.3 |
| C2CD5 | - | 12p12.1 |
| C2orf15 | - | 2q11.2 |
| C2orf16 | - | 2p23.3 |
| C2orf27A | - | 2q21.2 |
| C2orf40 | cyclin catabolic process; G1 to G0 transition; cellular senescence | 2q12.2 |
| C2orf42 | - | 2p13.3 |
| C2orf44 | - | 2p23.3 |
| C2orf47 | - | 2q33.1 |
| C2orf48 | - | 2p25.1 |
| C2orf49 | embryonic morphogenesis | 2q12.1 |
| C2orf50 | - | 2p25.1 |
| C2orf54 | - | 2q37.3 |
| C2orf61 | - | 2p21 |
| C2orf66 | - | 2q33.1 |
| C2orf68 | - | 2p11.2 |
| C2orf69 | - | 2q33.1 |
| C2orf70 | - | 2p23.3 |
| C2orf71 | visual perception; response to stimulus | 2p23.2 |
| C2orf72 | - | 2q37.1 |
| C2orf73 | - | 2p16.2 |
| C2orf74 | - | 2p15 |
| C2orf76 | - | 2q14.2 |
| C2orf78 | - | 2p13.1 |
| C2orf80 | - | 2q34 |
| C2orf81 | - | 2p13.1 |
| C2orf82 | - | 2q37.1 |
| C2orf88 | - | 2q32.2 |
| C2orf90 | - | 2p25.3 |
| C2orf91 | - | 2p21 |
| C3 | immune response; regulation of immune response; positive regulation of phagocytosis; positive regulation of angiogenesis; innate immune response; positive regulation vascular endothelial growth factor production; G-protein coupled receptor signaling pathway; signal transduction; complement activation, classical pathway; complement activation, alternative pathway; complement activation; inflammatory response; positive regulation of activation of membrane attack complex; positive regulation of type IIa hypersensitivity | 19p13.3-p13.2 |
| C3AR1 | chemotaxis; positive regulation of neutrophil chemotaxis; complement receptor mediated signaling pathway; tolerance induction to nonself antigen; inflammatory response; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration; blood circulation; regulation of blood pressure; positive regulation vascular endothelial growth factor production; positive regulation of macrophage chemotaxis; positive regulation of cell migration; positive regulation of angiogenesis | 12p13.31 |
| C3orf14 | - | 3p14.2 |
| C3orf17 | - | 3q13.2 |
| C3orf18 | - | 3p21.3 |
| C3orf20 | - | 3p25.1 |
| C3orf22 | - | 3q21.3 |
| C3orf33 | - | 3q25.31 |
| C3orf35 | - | 3p22.2 |
| C3orf36 | - | 3q22.1 |
| C3orf38 | apoptotic process | 3p11.1 |
| C3orf49 | - | 3p14.1 |
| C3orf52 | - | 3q13.2 |
| C3orf56 | - | 3q21.3 |
| C3orf58 | - | 3q24 |
| C3orf62 | - | 3p21.31 |
| C3orf67 | - | 3p14.2 |
| C3orf67-AS1 | - | - |
| C3orf70 | - | 3q27.2 |
| C3orf80 | - | 3q25.33 |
| C3orf84 | - | 3p21.31 |
| C3P1 | - | 19p13.2 |
| C4BPA | innate immune response; complement activation, classical pathway | 1q32 |
| C4BPAP1 | - | 1q32.2 |
| C4BPB | innate immune response; blood coagulation; complement activation, classical pathway | 1q32 |
| C4orf17 | - | 4q23 |
| C4orf19 | - | 4p14 |
| C4orf22 | - | 4q21.21 |
| C4orf26 | - | 4q21.1 |
| C4orf27 | - | 4q33 |
| C4orf3 | - | 4q26 |
| C4orf32 | - | 4q25 |
| C4orf33 | - | 4q28.2 |
| C4orf45 | - | 4q32.1 |
| C4orf46 | - | 4q32.1 |
| C4orf47 | - | 4q35.1 |
| C4orf48 | - | 4p16.3 |
| C4orf50 | - | 4p16.2 |
| C4orf51 | - | 4q31.21 |
| C5 | induction of apoptosis; cellular calcium ion homeostasis; leukocyte migration involved in inflammatory response; in utero embryonic development; chemotaxis; response to stress; inflammatory response; activation of MAPK activity; complement activation, alternative pathway; negative regulation of norepinephrine secretion; negative regulation of macrophage chemotaxis; cytolysis; negative regulation of dopamine secretion; glucose homeostasis; innate immune response; positive regulation of angiogenesis; positive regulation of chemotaxis; positive regulation of chemokine secretion; complement activation; positive regulation vascular endothelial growth factor production; G-protein coupled receptor signaling pathway; cell surface receptor signaling pathway; complement activation, classical pathway | 9q33-q34 |
| C5AR1 | chemotaxis; activation of MAPK activity; immune response; cellular defense response; signal transduction; activation of phospholipase C activity; elevation of cytosolic calcium ion concentration; sensory perception of chemical stimulus; neutrophil chemotaxis; response to peptidoglycan; defense response to Gram-positive bacterium | 19q13.3-q13.4 |
| C5AR2 | - | 19q13.33 |
| C5orf15 | - | 5q31.1 |
| C5orf17 | - | 5p14.2 |
| C5orf22 | - | 5p13.3 |
| C5orf24 | - | 5q31.1 |
| C5orf28 | - | 5p12 |
| C5orf30 | protein transport; cilium morphogenesis; cell projection organization | 5q21.1 |
| C5orf34 | - | 5p12 |
| C5orf38 | - | 5p15.33 |
| C5orf42 | - | 5p13.2 |
| C5orf45 | - | 5q35.3 |
| C5orf46 | - | 5q32 |
| C5orf47 | - | 5q35.2 |
| C5orf49 | - | 5p15.31 |
| C5orf50 | - | 5q35.1 |
| C5orf51 | - | 5p13.1 |
| C5orf52 | - | 5q33.3 |
| C5orf56 | - | 5q31.1 |
| C5orf58 | - | 5q35.1 |
| C5orf60 | - | 5q35.3 |
| C5orf63 | electron transport chain; transport | 5q23.2 |
| C5orf64 | - | 5q12.1 |
| C5orf66 | - | - |
| C5orf66-AS1 | - | 5q31.1 |
| C5orf66-AS2 | - | 5q31.2 |
| C6 | positive regulation of angiogenesis; innate immune response; cytolysis; complement activation, classical pathway; complement activation; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; positive regulation of activation of membrane attack complex; in utero embryonic development | 5p13 |
| C6orf1 | - | 6p21.31 |
| C6orf10 | - | 6p21.3 |
| C6orf100 | - | 6p22.1 |
| C6orf106 | - | 6p21.31 |
| C6orf118 | - | 6q27 |
| C6orf120 | - | 6q27 |
| C6orf132 | - | 6p21.1 |
| C6orf136 | - | 6p21.33 |
| C6orf141 | - | 6p12.3 |
| C6orf15 | extracellular matrix organization | 6p21.3 |
| C6orf163 | - | 6q15 |
| C6orf183 | - | 6q21 |
| C6orf201 | - | 6p25.2 |
| C6orf203 | - | 6q21 |
| C6orf222 | - | 6p21.31 |
| C6orf223 | - | 6p21.1 |
| C6orf226 | - | 6p21.1 |
| C6orf229 | - | - |
| C6orf25 | - | 6p21.33 |
| C6orf47 | - | 6p21.3 |
| C6orf48 | - | 6p21.3 |
| C6orf52 | - | 6p24.1 |
| C6orf58 | - | 6q22.33 |
| C6orf62 | - | 6p22.3 |
| C6orf89 | wound healing; positive regulation of cell cycle; epithelial cell proliferation | 6p21.2 |
| C6orf99 | - | 6q25.3 |
| C7 | immune response; complement activation; innate immune response; cytolysis; complement activation, classical pathway; complement activation, alternative pathway | 5p13 |
| C7orf13 | - | 7q36.3 |
| C7orf25 | - | 7p14.1 |
| C7orf26 | - | 7p22.1 |
| C7orf31 | - | 7p15.3 |
| C7orf34 | - | 7q34 |
| C7orf43 | - | 7q22.1 |
| C7orf49 | - | 7q33 |
| C7orf50 | - | 7p22.3 |
| C7orf55 | - | 7q34 |
| C7orf57 | - | 7p12.3 |
| C7orf60 | - | 7q31.1 |
| C7orf61 | - | 7q22.1 |
| C7orf62 | - | 7q21.13 |
| C7orf65 | - | 7p12.3 |
| C7orf66 | - | 7q31.1 |
| C7orf69 | - | 7p12.3 |
| C7orf71 | - | 7p15.2 |
| C7orf72 | - | 7p12.2 |
| C7orf73 | - | 7q33 |
| C7orf76 | - | 7q21.3 |
| C7orf77 | - | 7q31.33 |
| C8A | immune response; innate immune response; cytolysis; complement activation, classical pathway; complement activation, alternative pathway; complement activation | 1p32 |
| C8B | immune response; complement activation; complement activation, alternative pathway; complement activation, classical pathway; cytolysis; innate immune response | 1p32.2 |
| C8G | complement activation, alternative pathway; cytolysis; innate immune response; complement activation, classical pathway | 9q34.3 |
| C8orf22 | - | 8q11 |
| C8orf31 | - | 8q24.3 |
| C8orf33 | - | 8q24.3 |
| C8orf34 | signal transduction | 8q13 |
| C8orf34-AS1 | - | 8q13.1 |
| C8orf37 | - | 8q22.1 |
| C8orf37-AS1 | - | - |
| C8orf4 | apoptotic process | 8p11.2 |
| C8orf44 | - | 8q13.1 |
| C8orf46 | - | 8q13.1 |
| C8orf48 | - | 8p22 |
| C8orf49 | - | 8p23.1 |
| C8orf58 | - | 8p21 |
| C8orf59 | - | 8q21.2 |
| C8orf60 | - | 8q24.3 |
| C8orf66 | - | 8q24.3 |
| C8orf74 | - | 8p23.1 |
| C8orf76 | - | 8q24.13 |
| C8orf82 | - | 8q24 |
| C8orf87 | - | 8q22.1 |
| C8orf88 | - | 8q21.3 |
| C9 | activation of cysteine-type endopeptidase activity involved in apoptotic process; innate immune response; hemolysis by symbiont of host erythrocytes; cytolysis; blood coagulation; complement activation, classical pathway; complement activation, alternative pathway; induction of apoptosis | 5p14-p12 |
| C9orf106 | - | 9q34.11 |
| C9orf114 | - | 9q34.11 |
| C9orf116 | - | 9q34.3 |
| C9orf131 | - | 9p13.3 |
| C9orf135 | - | 9q21.12 |
| C9orf139 | - | 9q34.3 |
| C9orf142 | - | 9q34.3 |
| C9orf147 | - | 9q32 |
| C9orf152 | - | 9q31.3 |
| C9orf153 | - | 9q21.33 |
| C9orf16 | - | 9q34.1 |
| C9orf170 | - | 9q21.33 |
| C9orf172 | - | 9q34.3 |
| C9orf173-AS1 | - | 9q34.3 |
| C9orf24 | cellular protein complex assembly | 9p13.3 |
| C9orf3 | proteolysis; leukotriene biosynthetic process | 9q22.32 |
| C9orf40 | - | 9q21.13 |
| C9orf43 | - | 9q32 |
| C9orf47 | - | 9q22.1 |
| C9orf50 | - | 9q34.11 |
| C9orf57 | - | 9q21.13 |
| C9orf62 | - | 9q34.3 |
| C9orf64 | - | 9q21.32 |
| C9orf66 | - | 9p24.3 |
| C9orf69 | - | 9q34.3 |
| C9orf72 | cell death | 9p21.2 |
| C9orf78 | - | 9q34.11 |
| C9orf84 | - | 9q31.3 |
| C9orf85 | - | 9q21.13 |
| C9orf9 | - | 9q34 |
| C9orf91 | - | 9q32 |
| CA1 | one-carbon metabolic process | 8q21.2 |
| CA10 | brain development | 17q21.33 |
| CA11 | - | 19q13.3 |
| CA12 | one-carbon metabolic process | 15q22 |
| CA13 | one-carbon metabolic process | 8q21.2 |
| CA14 | - | 1q21 |
| CA15P1 | - | - |
| CA2 | response to stress; kidney development; morphogenesis of an epithelium; one-carbon metabolic process; response to pH; response to organic substance; response to zinc ion; positive regulation of cellular pH reduction; odontogenesis of dentin-containing tooth; carbon dioxide transport; response to estrogen stimulus; positive regulation of osteoclast differentiation; positive regulation of bone resorption; secretion | 8q22 |
| CA3 | one-carbon metabolic process; response to oxidative stress | 8q21.2 |
| CA4 | response to steroid hormone stimulus; organ development; response to drug; bicarbonate transport; one-carbon metabolic process | 17q23 |
| CA5AP1 | - | 16p11.2 |
| CA5B | one-carbon metabolic process; metabolic process | Xp21.1 |
| CA5BP1 | - | Xp22.2 |
| CA6 | one-carbon metabolic process | 1p36.2 |
| CA7 | one-carbon metabolic process | 16q22.1 |
| CA8 | phosphatidylinositol-mediated signaling; one-carbon metabolic process | 8q12.1 |
| CA9 | secretion; morphogenesis of an epithelium; one-carbon metabolic process | 9p13.3 |
| CAAP1 | apoptotic process | 9p21.2 |
| CAB39 | protein heterooligomerization; positive regulation of protein phosphorylation; cell cycle arrest; insulin receptor signaling pathway; regulation of fatty acid oxidation | 2q37.1 |
| CAB39L | cell cycle arrest; insulin receptor signaling pathway; regulation of fatty acid oxidation | 13q14.2 |
| CABIN1 | cell surface receptor signaling pathway; chromatin modification; negative regulation of cell death | 22q11.23 |
| CABLES1 | nervous system development; blood coagulation; regulation of cell division; regulation of cell cycle | 18q11.2 |
| CABLES2 | regulation of cell division; regulation of cell cycle | 20q13.33 |
| CABP1 | negative regulation of catalytic activity | 12q24.31 |
| CABP4 | phototransduction; visual perception; signal transduction; photoreceptor cell morphogenesis; retinal cone cell development; retinal bipolar neuron differentiation | 11q13.2 |
| CABP5 | signal transduction | 19q13.33 |
| CABP7 | - | 22q12.2 |
| CABS1 | spermatogenesis | 4q13.3 |
| CABYR | sperm capacitation; ciliary or flagellar motility; signal transduction | 18q11.2 |
| CACFD1 | synaptic vesicle endocytosis | 9q34 |
| CACHD1 | calcium ion transport; ion transport | 1p31.3 |
| CACNA1A | neurotransmitter metabolic process; cerebellar molecular layer development; adult walking behavior; cerebellar Purkinje cell layer development; cerebellar Purkinje cell differentiation; vestibular nucleus development; neuromuscular process controlling balance; musculoskeletal movement, spinal reflex action; cellular chloride ion homeostasis; negative regulation of hormone biosynthetic process; synaptic transmission, glutamatergic; cell death; thyroid hormone metabolic process; receptor clustering; negative regulation of neuron apoptosis; small molecule metabolic process; behavioral response to pain; calcium ion-dependent exocytosis of neurotransmitter; dendrite morphogenesis; regulation of axonogenesis; regulation of insulin secretion; cerebellum maturation; transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; gamma-aminobutyric acid secretion; membrane depolarization; regulation of acetylcholine secretion; cell growth; regulation of calcium ion-dependent ex | 19p13 |
| CACNA1B | transport; ion transport; calcium ion transport; transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; membrane depolarization; synaptic transmission | 9q34 |
| CACNA1C | regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of insulin secretion; calcium ion transport into cytosol; transmembrane transport; ion transport; elevation of cytosolic calcium ion concentration; energy reserve metabolic process; axon guidance; small molecule metabolic process | 12p13.3 |
| CACNA1C-AS1 | - | - |
| CACNA1C-IT3 | - | - |
| CACNA1D | axon guidance; small molecule metabolic process; regulation of insulin secretion; regulation of calcium ion transport via voltage-gated calcium channel activity; transmembrane transport; energy reserve metabolic process; ion transport; calcium ion transport | 3p14.3 |
| CACNA1E | behavioral response to pain; regulation of somatostatin secretion; regulation of insulin secretion involved in cellular response to glucose stimulus; transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; membrane depolarization; regulation of insulin secretion; energy reserve metabolic process; small molecule metabolic process; glucose homeostasis; sperm motility; sensory perception of pain; visual learning; locomotory behavior; synaptic transmission; ion transport; transport; behavioral fear response; regulation of heart rate | 1q25.3 |
| CACNA1F | regulation of calcium ion transport via voltage-gated calcium channel activity; cellular calcium ion homeostasis; axon guidance; visual perception; dendrite morphogenesis; response to stimulus; detection of light stimulus involved in visual perception; transmembrane transport; retina development in camera-type eye; ion transport | Xp11.23 |
| CACNA1G | transmembrane transport; response to nickel cation; axon guidance; synaptic transmission; regulation of atrial cardiomyocyte membrane depolarization; regulation of heart rate; transport; ion transport; calcium ion transport | 17q22 |
| CACNA1G-AS1 | - | 17q21.33 |
| CACNA1H | axon guidance; cortisol biosynthetic process; cellular response to hormone stimulus; cellular response to potassium ion; aldosterone biosynthetic process; regulation of heart contraction; myoblast fusion; muscle organ development; muscle contraction; ion transport; transport; positive regulation of acrosome reaction; transmembrane transport | 16p13.3 |
| CACNA1I | transport; transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; axon guidance; signal transduction; calcium ion transport; ion transport | 22q13.1 |
| CACNA1S | muscle cell development; transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; skeletal muscle adaptation; neuromuscular junction development; myoblast fusion; axon guidance; striated muscle contraction; muscle contraction; calcium ion transport; ion transport; endoplasmic reticulum organization; extraocular skeletal muscle development; skeletal system development | 1q32 |
| CACNA2D1 | ion transport; calcium ion transport; regulation of calcium ion transport via voltage-gated calcium channel activity | 7q21-q22 |
| CACNA2D2 | regulation of multicellular organism growth; neuromuscular junction development; positive regulation of organ growth; muscle fiber development; regulation of insulin secretion; small molecule metabolic process; rhythmic synaptic transmission; ion transport; energy reserve metabolic process | 3p21.3 |
| CACNA2D3 | ion transport | 3p21.1 |
| CACNA2D3-AS1 | - | - |
| CACNA2D4 | ion transport | 12p13.33 |
| CACNB1 | ion transport; axon guidance; regulation of calcium ion transport via voltage-gated calcium channel activity; protein targeting to membrane; transport | 17q21-q22 |
| CACNB2 | transport; ion transport; calcium ion transport; synaptic transmission; calcium ion transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; visual perception; neuromuscular junction development; axon guidance | 10p12 |
| CACNB3 | membrane depolarization; transport; ion transport; calcium ion transport; synaptic transmission; axon guidance; regulation of calcium ion transport via voltage-gated calcium channel activity | 12q13 |
| CACNB4 | ion transport; transport; synaptic transmission; axon guidance; membrane depolarization; regulation of calcium ion transport via voltage-gated calcium channel activity | 2q22-q23 |
| CACNG1 | regulation of calcium ion transport via voltage-gated calcium channel activity; transport; ion transport; muscle contraction | 17q24 |
| CACNG2 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; membrane hyperpolarization; regulation of calcium ion transport via voltage-gated calcium channel activity; membrane depolarization; transport; ion transport; synaptic transmission; neuromuscular junction development | 22q13.1 |
| CACNG4 | membrane depolarization; regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; synaptic transmission; ion transport; transport | 17q24 |
| CACNG5 | regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; transport; ion transmembrane transport | 17q24 |
| CACNG6 | ion transport; calcium ion transport; regulation of calcium ion transport via voltage-gated calcium channel activity | 19q13.4 |
| CACNG7 | ion transport; calcium ion transport; regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity | 19q13.4 |
| CACNG8 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; regulation of calcium ion transport via voltage-gated calcium channel activity; calcium ion transport; ion transport; synaptic transmission | 19q13.4 |
| CACTIN | - | 19p13.3 |
| CACUL1 | - | 10q26.11 |
| CACYBP | aging; cellular response to calcium ion; negative regulation of cell death; response to growth hormone stimulus; cardiac muscle cell differentiation; positive regulation of DNA replication; heart development | 1q24-q25 |
| CACYBPP2 | - | 2q32.1 |
| CAD | response to caffeine; nitrogen compound metabolic process; glutamine catabolic process; glutamine metabolic process; cellular amino acid metabolic process; pyrimidine nucleotide biosynthetic process; 'de novo' pyrimidine base biosynthetic process; pyrimidine base metabolic process; female pregnancy; embryo development; response to amine stimulus; drug metabolic process; peptidyl-threonine phosphorylation; organ regeneration; response to testosterone stimulus; small molecule metabolic process; pyrimidine nucleoside biosynthetic process; protein autophosphorylation; nucleobase-containing small molecule metabolic process; carbamoyl phosphate biosynthetic process | 2p22-p21 |
| CADM1 | detection of stimulus; activated T cell proliferation; positive regulation of cytokine secretion; positive regulation of natural killer cell mediated cytotoxicity; cell-cell junction organization; susceptibility to natural killer cell mediated cytotoxicity; adherens junction organization; cell junction assembly; cell differentiation; cell recognition; spermatogenesis; multicellular organismal development; heterophilic cell-cell adhesion; homophilic cell adhesion; cell adhesion; apoptotic process; T cell mediated cytotoxicity | 11q23.2 |
| CADM2 | cell junction assembly; adherens junction organization; cell-cell junction organization | 3p12.1 |
| CADM3 | cell adhesion; homophilic cell adhesion; cell-cell junction organization; heterophilic cell-cell adhesion; cell junction assembly; adherens junction organization | 1q21.2-q22 |
| CADM3-AS1 | - | 1q23.2 |
| CADM4 | cell adhesion | 19q13.31 |
| CADPS | catecholamine secretion; positive regulation of calcium ion-dependent exocytosis; synaptic vesicle priming; exocytosis; protein transport; vesicle organization | 3p14.2 |
| CADPS2 | positive regulation of exocytosis; synaptic vesicle priming; protein transport | 7q31.3 |
| CAGE1 | - | 6p24.3 |
| CALB1 | locomotory behavior; learning or memory; retina layer formation; metanephric ureteric bud development; regulation of synaptic plasticity; retina development in camera-type eye; metanephric collecting duct development; metanephric distal convoluted tubule development; metanephric connecting tubule development | 8q21.3 |
| CALB2 | - | 16q22.2 |
| CALCA | cell-cell signaling; neuropeptide signaling pathway; elevation of cytosolic calcium ion concentration; activation of adenylate cyclase activity; activation of adenylate cyclase activity by G-protein signaling pathway; leukocyte cell-cell adhesion; positive regulation of macrophage differentiation; cellular calcium ion homeostasis; embryo implantation; aging; feeding behavior; regulation of blood pressure; response to heat; negative regulation of calcium ion transport into cytosol; negative regulation of ossification; positive regulation of cAMP biosynthetic process; receptor internalization; negative regulation of neurological system process; activation of protein kinase activity; positive regulation of interleukin-1 alpha production; positive regulation of interleukin-8 production; endothelial cell migration; monocyte chemotaxis; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; cytosolic calcium ion homeostasis; detection of temperature stimulu | 11p15.2 |
| CALCB | cellular calcium ion homeostasis; signal transduction; vasodilation | 11p15.2-p15.1 |
| CALCOCO1 | Wnt receptor signaling pathway; positive regulation of transcription, DNA-dependent; intracellular steroid hormone receptor signaling pathway; signal transduction; transcription, DNA-dependent | 12q13.13 |
| CALCOCO2 | response to interferon-gamma; viral reproduction | 17q21.32 |
| CALCP | - | 11p15.1 |
| CALCR | activation of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity; activation of phospholipase C activity; elevation of cytosolic calcium ion concentration; protein transport; positive regulation of cAMP biosynthetic process; receptor internalization; positive regulation of adenylate cyclase activity; response to glucocorticoid stimulus; protein localization in plasma membrane | 7q21.3 |
| CALCRL | G-protein signaling, coupled to cyclic nucleotide second messenger; positive regulation of smooth muscle cell proliferation; regulation of muscle contraction; calcium ion transport; negative regulation of inflammatory response; cellular response to sucrose stimulus; angiogenesis; positive regulation of cAMP biosynthetic process; protein transport; cAMP biosynthetic process; heart development; activation of adenylate cyclase activity by G-protein signaling pathway; receptor internalization | 2q32.1 |
| CALD1 | cellular component movement; muscle contraction; positive regulation of protein binding; actin filament bundle assembly | 7q33 |
| CALHM1 | ion transport | 10q24.33 |
| CALHM2 | - | 10q24.33 |
| CALHM3 | - | 10q24.33 |
| CALM1 | - | 14q32.11 |
| CALM1P1 | - | Xq21.33 |
| CALM2P2 | - | 10q22.1 |
| CALM3 | platelet degranulation; carbohydrate metabolic process; glycogen catabolic process; glucose metabolic process; muscle contraction; signal transduction; epidermal growth factor receptor signaling pathway; G-protein coupled receptor signaling pathway; activation of phospholipase C activity; synaptic transmission; blood coagulation; fibroblast growth factor receptor signaling pathway; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; platelet activation; regulation of cytokinesis; small molecule metabolic process; nitric oxide metabolic process; nerve growth factor receptor signaling pathway; regulation of nitric-oxide synthase activity; response to calcium ion; negative regulation of ryanodine-sensitive calcium-release channel activity; positive regulation of ryanodine-sensitive calcium-release channel activity | 19q13.2-q13.3 |
| CALML3 | - | 10p15.1 |
| CALML3-AS1 | - | 10p15.1 |
| CALML4 | - | 15q23 |
| CALML5 | epidermis development; signal transduction | 10p15.1 |
| CALML6 | - | 1p36.33 |
| CALN1 | - | 7q11 |
| CALR | positive regulation of cell proliferation; spermatogenesis; cell cycle arrest; activation of signaling protein activity involved in unfolded protein response; cellular calcium ion homeostasis; glucocorticoid receptor signaling pathway; protein export from nucleus; positive regulation of gene expression; negative regulation of translation; protein N-linked glycosylation via asparagine; protein maturation by protein folding; cortical actin cytoskeleton organization; endoplasmic reticulum unfolded protein response; response to estradiol stimulus; negative regulation of intracellular steroid hormone receptor signaling pathway; response to testosterone stimulus; protein localization to nucleus; regulation of meiosis; response to drug; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular senescence; positive regulation of cell cycle; cellular response to organic substance; cellular response to lithium ion; cardiac muscle cell differentiation; sequestering of calcium ion; protei | 19p13.3-p13.2 |
| CALR3 | cell differentiation; spermatogenesis; protein folding | 19p13.11 |
| CALU | platelet activation; blood coagulation; platelet degranulation | 7q32.1 |
| CALY | clathrin coat assembly; positive regulation of endocytosis; dopamine receptor signaling pathway | 10q26.3 |
| CAMK1 | positive regulation of neuron projection development; cell differentiation; regulation of protein localization; positive regulation of protein serine/threonine kinase activity; nervous system development; multicellular organismal development; signal transduction; cell cycle; nucleocytoplasmic transport; protein phosphorylation; positive regulation of dendritic spine development; positive regulation of synapse structural plasticity; regulation of protein binding; positive regulation of muscle cell differentiation; regulation of muscle cell differentiation; positive regulation of protein export from nucleus | 3p25.3 |
| CAMK1D | positive regulation of neuron projection development; positive regulation of neutrophil chemotaxis; nervous system development; regulation of granulocyte chemotaxis; positive regulation of respiratory burst; regulation of dendrite development; inflammatory response; positive regulation of phagocytosis; regulation of apoptotic process; positive regulation of CREB transcription factor activity | 10p13 |
| CAMK1G | - | 1q32.2 |
| CAMK2A | interferon-gamma-mediated signaling pathway; positive regulation of NF-kappaB transcription factor activity; cytokine-mediated signaling pathway; synaptic transmission; protein phosphorylation | 5q32 |
| CAMK2B | peptidyl-serine phosphorylation; regulation of calcium ion transport; regulation of skeletal muscle adaptation; positive regulation of neuron projection development; nervous system development; multicellular organismal development; synaptic transmission; signal transduction; protein phosphorylation; positive regulation of synapse maturation; cytokine-mediated signaling pathway; cell differentiation; induction of apoptosis in response to chemical stimulus; regulation of synaptic transmission, cholinergic; response to cadmium ion; protein autophosphorylation; regulation of long-term neuronal synaptic plasticity; neuromuscular process controlling balance; regulation of synapse structural plasticity; activation of meiosis involved in egg activation; regulation of dendritic spine development; positive regulation of dendritic spine morphogenesis; interferon-gamma-mediated signaling pathway; inhibitory G-protein coupled receptor phosphorylation; G1/S transition of mitotic cell cycle | 7p14.3-p14.1 |
| CAMK2D | cardiac muscle contraction; protein autophosphorylation; cytokine-mediated signaling pathway; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; positive regulation of cardiac muscle hypertrophy; regulation of heart contraction; synaptic transmission; calcium ion transport; protein phosphorylation; regulation of cell growth; G1/S transition of mitotic cell cycle; regulation of ryanodine-sensitive calcium-release channel activity; regulation of cellular localization; interferon-gamma-mediated signaling pathway | 4q26 |
| CAMK2G | multicellular organismal development; interferon-gamma-mediated signaling pathway; regulation of calcium ion transport; cell differentiation; insulin secretion; cytokine-mediated signaling pathway; regulation of skeletal muscle adaptation; nervous system development; synaptic transmission; protein phosphorylation | 10q22 |
| CAMK2N1 | negative regulation of phosphorylation; negative regulation of catalytic activity | 1p36.12 |
| CAMK2N2 | - | 3q27.1 |
| CAMK4 | myeloid dendritic cell cytokine production; protein phosphorylation; inflammatory response; signal transduction; epidermal growth factor receptor signaling pathway; synaptic transmission; activation of phospholipase C activity; fibroblast growth factor receptor signaling pathway; regulation of T cell differentiation in thymus; myeloid dendritic cell differentiation; regulation of osteoclast differentiation; positive regulation of transcription, DNA-dependent; nerve growth factor receptor signaling pathway; long-term memory | 5q21.3 |
| CAMKK1 | synaptic transmission | 17p13.2 |
| CAMKK2 | protein autophosphorylation; positive regulation of transcription, DNA-dependent; regulation of protein kinase activity; calcium-mediated signaling; protein phosphorylation; MAPK cascade | 12q24.2 |
| CAMKMT | - | 2p21 |
| CAMKV | - | 3p21.31 |
| CAMLG | receptor recycling; defense response; signal transduction; epidermal growth factor receptor signaling pathway | 5q23 |
| CAMP | defense response to Gram-positive bacterium; killing by host of symbiont cells; defense response to bacterium; negative regulation of growth of symbiont in host; negative regulation of growth of symbiont on or near host surface; defense response to Gram-negative bacterium | 3p21.3 |
| CAMSAP1 | regulation of cell morphogenesis; cytoskeleton organization | 9q34.3 |
| CAMSAP2 | - | 1q32.1 |
| CAMSAP3 | negative regulation of phosphatase activity; microtubule anchoring; epithelial cell-cell adhesion; regulation of microtubule cytoskeleton organization; zonula adherens maintenance | 19p13.2 |
| CAMTA1 | regulation of transcription, DNA-dependent | 1p36.31-p36.23 |
| CAMTA1-IT1 | - | - |
| CAMTA2 | positive regulation of transcription from RNA polymerase II promoter; cardiac muscle hypertrophy in response to stress; regulation of transcription from RNA polymerase II promoter | 17p13.2 |
| CAND1 | regulation of transcription, DNA-dependent; protein ubiquitination; negative regulation of catalytic activity; cell differentiation | 12q14 |
| CAND1.11 | - | 11p15.4 |
| CAND2 | positive regulation of transcription, DNA-dependent | 3p25.2 |
| CANT1 | signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 17q25.3 |
| CANX | antigen processing and presentation of peptide antigen via MHC class I; protein folding; protein secretion; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 5q35 |
| CAP1 | establishment or maintenance of cell polarity; cytoskeleton organization; receptor-mediated endocytosis; platelet degranulation; ameboidal cell migration; cell morphogenesis; signal transduction; activation of adenylate cyclase activity; axon guidance; blood coagulation; actin cytoskeleton organization; platelet activation | 1p34.2 |
| CAP1P1 | - | 3p12.3 |
| CAP1P2 | - | 10q11.21 |
| CAP2 | activation of adenylate cyclase activity; axon guidance; cell morphogenesis; cytoskeleton organization; establishment or maintenance of cell polarity; signal transduction | 6p22.3 |
| CAP2P1 | - | 14q31.3 |
| CAPG | protein complex assembly; cell projection assembly; barbed-end actin filament capping | 2p11.2 |
| CAPN1 | proteolysis; positive regulation of cell proliferation | 11q13 |
| CAPN10 | positive regulation of insulin secretion; positive regulation of intracellular transport; cellular response to insulin stimulus; actin cytoskeleton reorganization; positive regulation of apoptotic process; positive regulation of glucose import; proteolysis | 2q37.3 |
| CAPN10-AS1 | - | 2q37.3 |
| CAPN11 | proteolysis | 6p12 |
| CAPN12 | proteolysis | 19q13.2 |
| CAPN13 | proteolysis | 2p22-p21 |
| CAPN14 | proteolysis | 2p23.1-p21 |
| CAPN15 | - | 16p13.3 |
| CAPN2 | response to hypoxia; blastocyst development; proteolysis; myoblast fusion | 1q41-q42 |
| CAPN3 | sarcomere organization; regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of apoptotic process; response to drug; negative regulation of protein sumoylation; myofibril assembly; positive regulation of proteolysis; response to muscle activity; cellular response to calcium ion; protein localization in membrane; cellular response to salt stress; muscle structure development; response to calcium ion; positive regulation of release of sequestered calcium ion into cytosol; positive regulation of NF-kappaB transcription factor activity; regulation of catalytic activity; muscle cell homeostasis; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; muscle organ development; signal transduction; apoptotic process; proteolysis; protein complex assembly; autolysis; positive regulation of satellite cell activation involved in skeletal muscle regeneration | 15q15.1 |
| CAPN5 | luteinization; granulosa cell differentiation; signal transduction; proteolysis; ovarian follicle development | 11q14 |
| CAPN6 | regulation of cytoskeleton organization; microtubule bundle formation; proteolysis | Xq23 |
| CAPN7 | proteolysis | 3p24 |
| CAPN8 | proteolysis | 1q41 |
| CAPN9 | proteolysis; digestion | 1q42.11-q42.3 |
| CAPNS1 | proteolysis; metabolic process; positive regulation of cell proliferation | 19q13.12 |
| CAPNS1P1 | - | 1p22.2 |
| CAPNS2 | - | 16q12.2 |
| CAPRIN1 | negative regulation of translation; cell differentiation; positive regulation of dendrite morphogenesis; positive regulation of dendritic spine morphogenesis | 11p13 |
| CAPRIN2 | cell differentiation; positive regulation of canonical Wnt receptor signaling pathway; positive regulation of dendritic spine morphogenesis; positive regulation of dendrite morphogenesis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of cell growth; positive regulation of protein binding; positive regulation of peptidyl-serine phosphorylation; negative regulation of translation; regulation of growth | 12p11 |
| CAPS | intracellular signal transduction | 19p13.3 |
| CAPS2 | - | 12q14.1 |
| CAPSL | - | 5p13.2 |
| CAPZA1 | innate immune response; actin cytoskeleton organization; blood coagulation; cellular component movement; protein complex assembly; actin filament capping | 1p13.2 |
| CAPZA1P | - | Xq21.3 |
| CAPZA2 | actin filament capping; innate immune response; actin cytoskeleton organization; cellular component movement; blood coagulation; protein complex assembly | 7q31.2-q31.3 |
| CAPZB | cellular component movement; cytoskeleton organization; blood coagulation; regulation of cell morphogenesis; cell projection organization; lamellipodium assembly; actin cytoskeleton organization; actin filament capping | 1p36.1 |
| CARD10 | protein complex assembly; activation of NF-kappaB-inducing kinase activity; regulation of apoptotic process | 22q13.1 |
| CARD11 | positive regulation of cytokine production; positive regulation of NF-kappaB transcription factor activity; T cell receptor signaling pathway; regulation of immune response; regulation of T cell differentiation; regulation of B cell differentiation; positive regulation of interleukin-2 biosynthetic process; thymic T cell selection; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; positive regulation of T cell proliferation; T cell costimulation; positive regulation of B cell proliferation; signal transduction | 7p22 |
| CARD14 | positive regulation of protein phosphorylation; activation of NF-kappaB-inducing kinase activity; regulation of apoptotic process | 17q25 |
| CARD16 | regulation of apoptotic process | - |
| CARD17 | regulation of apoptotic process; proteolysis | 11q22.3 |
| CARD18 | inflammatory response; regulation of apoptotic process | 11q22.3 |
| CARD19 | negative regulation of I-kappaB kinase/NF-kappaB cascade | 9q22.31 |
| CARD6 | regulation of apoptotic process | 5p13.1 |
| CARD8 | activation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of apoptotic process; positive regulation of interleukin-1 beta secretion; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of I-kappaB kinase/NF-kappaB cascade | 19q13.33 |
| CARD8-AS1 | - | - |
| CARD9 | response to muramyl dipeptide; positive regulation of innate immune response; regulation of tumor necrosis factor biosynthetic process; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; response to exogenous dsRNA; regulation of interleukin-2 biosynthetic process; response to drug; innate immune response; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; regulation of interleukin-6 biosynthetic process; positive regulation of JNK cascade; defense response to Gram-positive bacterium; positive regulation of stress-activated MAPK cascade; positive regulation of tumor necrosis factor production; defense response to virus; response to fungus; nucleotide-binding oligomerization domain containing signaling pathway; positive regulation of interleukin-6 production | 9q34.3 |
| CARF | - | 2q33.2 |
| CARHSP1 | regulation of transcription, DNA-dependent; regulation of mRNA stability; intracellular signal transduction | 16p13.2 |
| CARKD | - | 13q34 |
| CARM1 | peptidyl-arginine N-methylation; regulation of growth plate cartilage chondrocyte proliferation; regulation of transcription, DNA-dependent; positive regulation of cell proliferation; chromatin modification; histone methylation; peptidyl-arginine methylation, to asymmetrical-dimethyl arginine; intracellular steroid hormone receptor signaling pathway; negative regulation of protein binding; regulation of intracellular estrogen receptor signaling pathway; histone H3-R2 methylation; histone H3-R17 methylation; endochondral bone morphogenesis; cellular lipid metabolic process; small molecule metabolic process; pathogenesis; interspecies interaction between organisms; positive regulation of fat cell differentiation; response to cAMP | 19p13.2 |
| CARM1P1 | - | 9p24.2 |
| CARMN | - | 5q32 |
| CARNMT1 | - | 9q21.13 |
| CARNS1 | carnosine biosynthetic process | 11q13.2 |
| CARS | gene expression; cysteinyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 11p15.5 |
| CARS2 | tRNA aminoacylation for protein translation; cysteinyl-tRNA aminoacylation; gene expression | 13q34 |
| CARTPT | circadian regulation of gene expression; positive regulation of epinephrine secretion; somatostatin secretion; neuropeptide signaling pathway; cell-cell signaling; synaptic transmission; adult feeding behavior; cellular response to starvation; negative regulation of appetite; negative regulation of osteoclast differentiation; positive regulation of blood pressure; negative regulation of bone resorption; negative regulation of glucagon secretion; regulation of bone remodeling; G-protein coupled receptor signaling pathway; signal transduction; cellular glucose homeostasis; activation of MAPKK activity; regulation of insulin secretion; positive regulation of transmission of nerve impulse | 5q13.2 |
| CASC1 | - | 12p12.1 |
| CASC10 | - | 10p12.31 |
| CASC15 | - | 6p22.3 |
| CASC18 | - | - |
| CASC2 | - | 10q26.11 |
| CASC20 | - | - |
| CASC21 | - | 8q24.21 |
| CASC3 | intracellular mRNA localization; mRNA transport; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; gene expression; mRNA processing; regulation of translation; transport; response to stress; RNA splicing; RNA metabolic process; mRNA metabolic process | 17q21.1 |
| CASC4 | - | 15q15.3 |
| CASC4P1 | - | - |
| CASC5 | chromosome segregation; M phase of mitotic cell cycle; mitotic prometaphase; spindle assembly checkpoint; mitotic cell cycle; cell division; CenH3-containing nucleosome assembly at centromere; negative regulation of phosphatase activity; acrosome assembly; nucleosome assembly; attachment of spindle microtubules to kinetochore | 15q14 |
| CASC7 | - | 8q24.3 |
| CASC9 | - | 8q21.11 |
| CASD1 | - | 7q21.3 |
| CASK | negative regulation of cellular response to growth factor stimulus; negative regulation of cell-matrix adhesion; cell adhesion; negative regulation of keratinocyte proliferation; negative regulation of wound healing | Xp11.4 |
| CASKIN1 | signal transduction | 16p13.3 |
| CASKIN2 | - | 17q25.1 |
| CASP1 | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; signal transduction; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; proteolysis; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; cellular response to mechanical stimulus; cellular response to organic substance | 11q23 |
| CASP10 | innate immune response; apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; induction of apoptosis by extracellular signals; induction of apoptosis; proteolysis | 2q33-q34 |
| CASP12 | regulation of apoptotic process; proteolysis | 11q22.3 |
| CASP14 | proteolysis; apoptotic process; induction of apoptosis; epidermis development; cell differentiation | 19p13.1 |
| CASP16 | proteolysis | 16p13.3 |
| CASP1P1 | - | - |
| CASP1P2 | - | 11q22.3 |
| CASP2 | apoptotic signaling pathway; execution phase of apoptosis; cellular response to mechanical stimulus; nerve growth factor receptor signaling pathway; positive regulation of neuron apoptosis; positive regulation of apoptotic process; protein processing; induction of apoptosis by extracellular signals; aging; metabolic process; luteolysis; neural retina development; proteolysis; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; brain development | 7q34-q35 |
| CASP3 | regulation of apoptotic process; response to UV; response to wounding; protein processing; keratinocyte differentiation; nuclear fragmentation involved in apoptotic nuclear change; negative regulation of B cell proliferation; response to tumor necrosis factor; negative regulation of phosphorylation; T cell homeostasis; negative regulation of apoptotic process; positive regulation of neuron apoptosis; cell fate commitment; negative regulation of cyclin-dependent protein kinase activity; negative regulation of activated T cell proliferation; nerve growth factor receptor signaling pathway; induction of apoptosis by oxidative stress; B cell homeostasis; release of cytochrome c from mitochondria; DNA fragmentation involved in apoptotic nuclear change; proteolysis; apoptotic process; induction of apoptosis; cellular component disassembly involved in apoptosis; response to DNA damage stimulus; heart development; sensory perception of sound; induction of apoptosis by extracellular signals; induction of apoptosis via | 4q34 |
| CASP3P1 | - | 1p31.1 |
| CASP4 | regulation of apoptotic process; apoptotic process; proteolysis; induction of apoptosis | 11q22.2-q22.3 |
| CASP5 | proteolysis; apoptotic process; regulation of apoptotic process; cellular response to mechanical stimulus | 11q22.2-q22.3 |
| CASP6 | response to cytokine stimulus; positive regulation of retinal cell programmed cell death; positive regulation of neuron apoptosis; response to hydrogen peroxide; response to testosterone stimulus; response to estradiol stimulus; response to gamma radiation; response to organic nitrogen; response to glucose stimulus; response to heat; cellular component disassembly involved in apoptosis; induction of apoptosis; apoptotic process; proteolysis; acute inflammatory response to non-antigenic stimulus; lens development in camera-type eye; response to iron ion | 4q25 |
| CASP7 | induction of apoptosis; positive regulation of neuron apoptosis; protein processing; response to UV; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; induction of apoptosis by intracellular signals; aging; heart development; cellular component disassembly involved in apoptosis; apoptotic process; proteolysis; release of cytochrome c from mitochondria | 10q25 |
| CASP8 | angiogenesis; neural tube formation; proteolysis; apoptotic process; cellular component disassembly involved in apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; extrinsic apoptotic signaling pathway; cellular response to mechanical stimulus; nucleotide-binding oligomerization domain containing signaling pathway; proteolysis involved in cellular protein catabolic process; protein heterooligomerization; response to antibiotic; response to ethanol; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; response to lipopolysaccharide; heart development; metabolic process; induction of apoptosis by extracellular signals; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; response to cold; macrophage differentiation; response to cobalt ion; response to estradiol stimulus; response to tumo | 2q33-q34 |
| CASP8AP2 | cellular response to mechanical stimulus; induction of apoptosis via death domain receptors; induction of apoptosis by extracellular signals; signal transduction; cell cycle; activation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of transcription, DNA-dependent | 6q15 |
| CASP9 | regulation of apoptotic process; cellular response to dexamethasone stimulus; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; positive regulation of neuron apoptosis; response to UV; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; fibroblast growth factor receptor signaling pathway; proteolysis; epidermal growth factor receptor signaling pathway; response to DNA damage stimulus; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; induction of apoptosis by intracellular signals | 1p36.21 |
| CASQ1 | response to organic substance; regulation of sequestering of calcium ion; response to denervation involved in regulation of muscle adaptation; regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion; response to heat; skeletal muscle tissue development; endoplasmic reticulum organization | 1q21 |
| CASQ2 | striated muscle contraction; heart development | 1p13.1 |
| CASR | cellular calcium ion homeostasis; calcium ion import; calcium-mediated signaling; anatomical structure morphogenesis; chemosensory behavior; G-protein coupled receptor signaling pathway; detection of calcium ion; ossification | 3q13 |
| CASS4 | cell adhesion | 20q13.31 |
| CAST | negative regulation of endopeptidase activity | 5q15 |
| CASZ1 | regulation of transcription, DNA-dependent | 1p36.22 |
| CAT | purine base metabolic process; cellular response to growth factor stimulus; response to hyperoxia; nucleobase-containing small molecule metabolic process; positive regulation of cell division; protein tetramerization; positive regulation of NF-kappaB transcription factor activity; small molecule metabolic process; negative regulation of apoptotic process; hydrogen peroxide catabolic process; menopause; negative regulation of NF-kappaB transcription factor activity; response to reactive oxygen species; response to hypoxia; response to vitamin E; purine nucleotide catabolic process; triglyceride metabolic process; aging; aerobic respiration; UV protection; positive regulation of phosphatidylinositol 3-kinase cascade; hemoglobin metabolic process; cholesterol metabolic process | 11p13 |
| CATIP | - | 2q35 |
| CATIP-AS1 | - | 2q35 |
| CATSPER1 | multicellular organismal development; sperm motility; transmembrane transport; cell differentiation; fusion of sperm to egg plasma membrane; spermatogenesis; ion transport; ciliary or flagellar motility | 11q12.1 |
| CATSPER2 | transmembrane transport; cell differentiation; spermatogenesis; multicellular organismal development; ion transport | 15q15.3 |
| CATSPER2P1 | - | 15q15.3 |
| CATSPER3 | ion transport; multicellular organismal development; spermatogenesis; cell differentiation; transmembrane transport | 5q31.1 |
| CATSPERB | spermatogenesis; cell differentiation; multicellular organismal development | 14q32.12 |
| CATSPERD | - | 19p13.3 |
| CATSPERG | multicellular organismal development; spermatogenesis; cell differentiation | 19q13.1 |
| CATX-1 | - | - |
| CAV1 | positive regulation of peptidyl-serine phosphorylation; positive regulation of metalloenzyme activity; negative regulation of JAK-STAT cascade; nitric oxide metabolic process; positive regulation of vasoconstriction; positive regulation of endocytosis; positive regulation of anti-apoptosis; negative regulation of nitric oxide biosynthetic process; interspecies interaction between organisms; small molecule metabolic process; response to estrogen stimulus; negative regulation of MAPK cascade; cholesterol homeostasis; negative regulation of tyrosine phosphorylation of Stat5 protein; response to drug; nitric oxide homeostasis; cholesterol efflux; caveola assembly; leukocyte migration; positive regulation of intrinsic apoptotic signaling pathway; positive regulation of extrinsic apoptotic signaling pathway; receptor internalization involved in canonical Wnt receptor signaling pathway; positive regulation of canonical Wnt receptor signaling pathway; negative regulation of canonical Wnt receptor signaling pathway; c | 7q31.1 |
| CAV2 | vesicle docking; caveola assembly; positive regulation of dopamine receptor signaling pathway; protein oligomerization; skeletal muscle fiber development; vesicle organization; synaptic transmission; regulation of mitosis; endoplasmic reticulum organization; mitochondrion organization; vesicle fusion; negative regulation of endothelial cell proliferation; negative regulation of cell proliferation | 7q31.1 |
| CAV3 | T-tubule organization; regulation of membrane potential; glucose homeostasis; cholesterol homeostasis; negative regulation of MAP kinase activity; negative regulation of MAPK cascade; negative regulation of cell size; muscle cell homeostasis; negative regulation of nitric-oxide synthase activity; regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of cardiac muscle contraction; negative regulation of sarcomere organization; regulation of ventricular cardiomyocyte membrane repolarization; positive regulation of microtubule polymerization; membrane raft organization; negative regulation of protein kinase activity; triglyceride metabolic process; endocytosis; elevation of cytosolic calcium ion concentration; muscle organ development; protein localization; negative regulation of cardiac muscle hypertrophy; regulation of skeletal muscle contraction; cell growth; cell differentiation; regulation of heart contraction | 3p25 |
| CBARP | - | 19p13.3 |
| CBFA2T2 | epithelial cell differentiation; positive regulation of neuron projection development; negative regulation of neuron projection development; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 20q11 |
| CBFA2T3 | granulocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; cell differentiation; cell proliferation | 16q24 |
| CBFB | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 16q22.1 |
| CBL | positive regulation of phosphatidylinositol 3-kinase cascade; positive regulation of receptor-mediated endocytosis; negative regulation of apoptotic process; negative regulation of epidermal growth factor receptor signaling pathway; regulation of signaling; protein ubiquitination; regulation of transcription, DNA-dependent; cell surface receptor signaling pathway; fibroblast growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway | 11q23.3 |
| CBLB | regulation of signaling; negative regulation of T cell receptor signaling pathway; negative regulation of alpha-beta T cell proliferation; positive regulation of protein catabolic process; T cell activation; intracellular signal transduction; response to hormone stimulus; response to gravity; cell surface receptor signaling pathway; signal transduction; immune response; NLS-bearing substrate import into nucleus; positive regulation of T cell anergy | 3q13.11 |
| CBLC | negative regulation of epidermal growth factor-activated receptor activity; regulation of signaling; negative regulation of epidermal growth factor receptor signaling pathway; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; cell surface receptor signaling pathway; negative regulation of MAP kinase activity | 19q13.2 |
| CBLL1 | negative regulation of cell adhesion; positive regulation of endocytosis; cell-cell adhesion; protein ubiquitination; positive regulation of cell migration | 7q22.3 |
| CBLN1 | synaptic transmission; nervous system development | 16q12.1 |
| CBLN2 | - | 18q22.3 |
| CBLN3 | - | 14q12 |
| CBR1 | oxidation-reduction process; drug metabolic process; vitamin K metabolic process | 21q22.13 |
| CBR3 | phylloquinone catabolic process | 21q22.2 |
| CBR3-AS1 | - | - |
| CBR4 | fatty acid biosynthetic process; antibiotic metabolic process; protein homotetramerization | 4q32.3 |
| CBS | regulation of blood vessel size; hydrogen sulfide biosynthetic process; cartilage development involved in endochondral bone morphogenesis; maternal process involved in female pregnancy; response to folic acid; homocysteine metabolic process; small molecule metabolic process; regulation of JUN kinase activity; homocysteine catabolic process; cellular nitrogen compound metabolic process; response to nutrient levels; regulation of cGMP metabolic process; L-cysteine catabolic process; cerebellum morphogenesis; sulfur amino acid metabolic process; endochondral ossification; blood vessel remodeling; cysteine biosynthetic process from serine; L-serine metabolic process; L-serine catabolic process; superoxide metabolic process; cellular amino acid biosynthetic process; cysteine biosynthetic process via cystathionine; transsulfuration | 21q22.3 |
| CBWD1 | - | 9p24.3 |
| CBWD3 | - | 9q13 |
| CBWD5 | - | 9q21.11 |
| CBWD6 | - | 9q21.11 |
| CBX1 | negative regulation of transcription, DNA-dependent | 17q21.32 |
| CBX1P1 | - | Xq11.1 |
| CBX1P3 | - | 1q32.1 |
| CBX2 | chromatin modification; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; development of primary sexual characteristics; cell differentiation | 17q25.3 |
| CBX3 | negative regulation of transcription, DNA-dependent; chromatin remodeling | 7p15.2 |
| CBX3P1 | - | 11p14.1 |
| CBX3P2 | - | 18p11.32 |
| CBX3P4 | - | - |
| CBX3P7 | - | - |
| CBX3P8 | - | 11p11.12 |
| CBX4 | negative regulation of transcription, DNA-dependent; chromatin modification; negative regulation of transcription from RNA polymerase II promoter; anti-apoptosis | 17q25.3 |
| CBX5 | negative regulation of transcription, DNA-dependent; blood coagulation; interspecies interaction between organisms | 12q13.13 |
| CBX6 | regulation of transcription, DNA-dependent; chromatin modification; negative regulation of transcription from RNA polymerase II promoter | 22q13.1 |
| CBX7 | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; chromatin modification | 22q13.1 |
| CBX8 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; chromatin modification; histone ubiquitination | 17q25.3 |
| CBY1 | cardiac muscle cell differentiation; negative regulation of transcription, DNA-dependent; negative regulation of canonical Wnt receptor signaling pathway; fat cell differentiation; cilium assembly; protein localization; negative regulation of Wnt receptor signaling pathway | 22q12 |
| CC2D1A | regulation of transcription, DNA-dependent; signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 19p13.12 |
| CC2D1B | regulation of transcription, DNA-dependent | 1p32.3 |
| CC2D2A | cilium morphogenesis; cilium assembly; smoothened signaling pathway; cell projection organization | 4p15.32 |
| CC2D2B | - | 10q24.1 |
| CCAR1 | RNA splicing; apoptotic process; cell cycle; regulation of transcription, DNA-dependent; nuclear mRNA splicing, via spliceosome; gene expression | 10q21.3 |
| CCAR2 | apoptotic process; positive regulation of apoptotic process; negative regulation of catalytic activity | 8p22 |
| CCAT1 | - | - |
| CCBE1 | lymphangiogenesis; sprouting angiogenesis; multicellular organismal development; venous blood vessel morphogenesis | 18q21.32 |
| CCBL1 | kynurenine metabolic process; small molecule metabolic process; L-phenylalanine catabolic process; tryptophan catabolic process; cellular modified amino acid metabolic process; cellular amino acid biosynthetic process; biosynthetic process; cellular nitrogen compound metabolic process | 9q34.11 |
| CCBL2 | cellular amino acid metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; biosynthetic process; tryptophan catabolic process; kynurenine metabolic process | 1p22.2 |
| CCDC102A | - | 16q21 |
| CCDC102B | - | 18q22.1 |
| CCDC106 | - | 19q13.42 |
| CCDC107 | - | 9p13.3 |
| CCDC109B | - | 4q25 |
| CCDC110 | - | 4q35.1 |
| CCDC112 | - | 5q22.3 |
| CCDC113 | - | 16q21 |
| CCDC114 | - | 19q13.33 |
| CCDC115 | - | 2q21.1 |
| CCDC116 | - | 22q11.21 |
| CCDC117 | - | 22q12.1 |
| CCDC11P1 | - | 5p13.1 |
| CCDC12 | - | 3p21.31 |
| CCDC120 | - | Xp11.23 |
| CCDC121 | - | 2p23.3 |
| CCDC122 | - | 13q14.11 |
| CCDC124 | - | 19p13.11 |
| CCDC125 | - | 5q13.2 |
| CCDC126 | - | 7p15.3 |
| CCDC127 | - | 5p15.33 |
| CCDC129 | - | 7p14.3 |
| CCDC13 | - | 3p22.1 |
| CCDC130 | response to virus | 19p13.2 |
| CCDC134 | - | 22q13.2 |
| CCDC136 | - | 7q33 |
| CCDC137 | - | 17q25.3 |
| CCDC138 | - | 2q12.3 |
| CCDC14 | - | 3q21.1 |
| CCDC140 | - | 2q36.1 |
| CCDC141 | - | 2q31.2 |
| CCDC142 | - | 2p13.1 |
| CCDC144A | - | 17p11.2 |
| CCDC144CP | - | 17p11.2 |
| CCDC144NL | - | 17p11.2 |
| CCDC146 | - | 7q11.23 |
| CCDC147-AS1 | - | - |
| CCDC148 | - | 2q24.1 |
| CCDC148-AS1 | - | 2q24.1 |
| CCDC149 | - | 4p15.2 |
| CCDC15 | - | 11q24.2 |
| CCDC150 | - | 2q33.1 |
| CCDC151 | - | 19p13.2 |
| CCDC152 | - | 5p12 |
| CCDC153 | - | 11q23.3 |
| CCDC154 | - | 16p13.3 |
| CCDC155 | protein dephosphorylation | 19q13.33 |
| CCDC157 | - | 22q12.2 |
| CCDC158 | - | 4q21.1 |
| CCDC159 | - | 19p13.2 |
| CCDC160 | - | Xq26.2 |
| CCDC162P | - | 6q21 |
| CCDC163P | - | 1p34.1 |
| CCDC166 | - | 8q24.3 |
| CCDC167 | - | 6p21.2 |
| CCDC168 | - | 13q33.1 |
| CCDC169 | - | 13q13.3 |
| CCDC17 | - | 1p34.1 |
| CCDC170 | - | 6q25.1 |
| CCDC171 | - | 9p22.3 |
| CCDC172 | - | 10q25.3 |
| CCDC173 | - | 2q31.1 |
| CCDC174 | - | 3p25.1 |
| CCDC175 | - | 14q23.1 |
| CCDC177 | - | 14q24.1 |
| CCDC178 | - | 18q12.1 |
| CCDC179 | - | 11p14.2 |
| CCDC18 | - | 1p22.1 |
| CCDC18-AS1 | - | 1p22.1 |
| CCDC180 | - | 9q22.33 |
| CCDC181 | - | 1q24 |
| CCDC182 | - | - |
| CCDC183 | - | 9q34.3 |
| CCDC183-AS1 | - | 9q34.3 |
| CCDC184 | - | 12q13.11 |
| CCDC186 | - | 10q25.3 |
| CCDC188 | - | 22q11.21 |
| CCDC189 | - | 16p11.2 |
| CCDC190 | - | 1q23.3 |
| CCDC191 | - | 3q13.31 |
| CCDC22 | - | Xp11.23 |
| CCDC24 | - | 1p34.1 |
| CCDC25 | - | 8p21.1 |
| CCDC26 | - | 8q24.21 |
| CCDC27 | - | 1p36.32 |
| CCDC28A | - | 6q23.1-q24.1 |
| CCDC28B | - | 1p36.11-p34.2 |
| CCDC3 | - | 10p13 |
| CCDC30 | - | 1p34.2 |
| CCDC33 | - | 15q24.1 |
| CCDC34 | - | 11p14.1 |
| CCDC36 | - | 3p21.31 |
| CCDC38 | - | 12q23.1 |
| CCDC39 | axonemal dynein complex assembly; epithelial cilium movement involved in determination of left/right asymmetry; flagellar cell motility; ciliary cell motility | 3q26.33 |
| CCDC39-AS1 | - | - |
| CCDC40 | ciliary cell motility; flagellar cell motility; epithelial cilium movement involved in determination of left/right asymmetry; axonemal dynein complex assembly | 17q25.3 |
| CCDC43 | - | 17q21.31 |
| CCDC47 | post-embryonic development; calcium ion homeostasis; embryo development; ER overload response | 17q23.3 |
| CCDC50 | - | 3q28 |
| CCDC51 | - | 3p21.31 |
| CCDC53 | - | 12q23.2 |
| CCDC57 | - | 17q25.3 |
| CCDC58 | - | 3q21.1 |
| CCDC58P1 | - | 18p11.22 |
| CCDC58P3 | - | 18p11.21 |
| CCDC59 | regulation of transcription, DNA-dependent | 12q21.31 |
| CCDC6 | - | 10q21 |
| CCDC60 | - | 12q24.23 |
| CCDC61 | - | 19q13.32 |
| CCDC62 | - | 12q24.31 |
| CCDC63 | - | 12q24.11 |
| CCDC64 | transport; neuron projection development; nervous system development; Golgi to secretory granule transport | 12q24.23 |
| CCDC64B | - | 16p13.3 |
| CCDC65 | - | 12q13.12 |
| CCDC66 | - | 3p14.3 |
| CCDC67 | - | 11q21 |
| CCDC68 | - | 18q21 |
| CCDC69 | - | 5q33.1 |
| CCDC7 | - | 10p11.22 |
| CCDC70 | - | 13q14.3 |
| CCDC71 | - | 3p21.31 |
| CCDC71L | - | 7q22.3 |
| CCDC73 | - | 11p13 |
| CCDC74A | - | 2q21.1 |
| CCDC74B | - | 2q21.1 |
| CCDC75P1 | - | 3p13 |
| CCDC77 | - | 12p13.33 |
| CCDC78 | - | 16p13.3 |
| CCDC79 | regulation of transcription, DNA-dependent | 16q22.1 |
| CCDC8 | negative regulation of phosphatase activity | 19q13.32 |
| CCDC80 | positive regulation of cell-substrate adhesion; extracellular matrix organization | 3q13.2 |
| CCDC81 | - | 11q14.2 |
| CCDC82 | - | 11q21 |
| CCDC83 | - | 11q14.1-q14.2 |
| CCDC84 | - | 11q23.3 |
| CCDC85A | - | 2p16.1 |
| CCDC85B | regulation of growth; negative regulation of fat cell differentiation; negative regulation of transcription, DNA-dependent; negative regulation of cell growth; cell differentiation | 11q12.1 |
| CCDC85C | cerebral cortex development | 14q32.31 |
| CCDC86 | interspecies interaction between organisms | 11q12.2 |
| CCDC87 | - | 11q13.2 |
| CCDC88A | regulation of cell proliferation; microtubule cytoskeleton organization; regulation of protein phosphorylation; regulation of DNA replication; nervous system development; regulation of neuron projection development; cellular membrane organization; cell migration; lamellipodium assembly; TOR signaling cascade; activation of protein kinase B activity; regulation of actin cytoskeleton organization | 2p16.1 |
| CCDC88B | microtubule cytoskeleton organization | 11q12.3 |
| CCDC88C | microtubule cytoskeleton organization; regulation of protein phosphorylation; Wnt receptor signaling pathway; protein destabilization; protein homooligomerization | 14q32.11 |
| CCDC89 | - | 11q14.1 |
| CCDC9 | - | 19q13.32 |
| CCDC90B | - | 11q14.1 |
| CCDC91 | protein transport | 12p11.22 |
| CCDC92 | - | 12q24.31 |
| CCDC93 | - | 2q14.1 |
| CCDC94 | - | 19p13.3 |
| CCDC97 | - | 19q13.2 |
| CCER1 | - | 12q21.33 |
| CCER2 | - | 19q13.2 |
| CCHCR1 | multicellular organismal development; cell differentiation | 6p21.3 |
| CCIN | cell differentiation; spermatogenesis; multicellular organismal development | 9p13.3 |
| CCK | behavioral fear response; neuron migration; release of cytochrome c from mitochondria; activation of cysteine-type endopeptidase activity involved in apoptotic process; signal transduction; axonogenesis; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; positive regulation of cell proliferation; negative regulation of appetite; positive regulation of protein oligomerization; eating behavior; positive regulation of apoptotic process; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of mitochondrial depolarization; regulation of sensory perception of pain | 3p22.1 |
| CCKAR | regulation of hormone secretion; actin cytoskeleton reorganization; regulation of potassium ion transport; response to starvation; cellular response to hormone stimulus; response to lipopolysaccharide; feeding behavior; response to radiation; response to heat; insulin secretion; pancreatic juice secretion; forebrain development; pancreas development; organ regeneration; response to steroid hormone stimulus; response to glucocorticoid stimulus; positive regulation of calcium ion transport via voltage-gated calcium channel activity; positive regulation of somatostatin secretion; digestion; response to nutrient; axonogenesis; elevation of cytosolic calcium ion concentration; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; reduction of food intake in response to dietary excess; neuron migration; gastric acid secretion; temperature homeostasis | 4p15.1-p15.2 |
| CCKBR | positive regulation of somatostatin secretion; sensory perception; histamine secretion; positive regulation of cell proliferation; behavioral defense response; apoptotic process; cell surface receptor signaling pathway; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; elevation of cytosolic calcium ion concentration; digestion; feeding behavior; positive regulation of synaptic transmission, GABAergic; response to insulin stimulus; regulation of sensory perception of pain; positive regulation of synaptic transmission, glutamatergic; estrous cycle phase; ERK1 and ERK2 cascade; cell proliferation | 11p15.4 |
| CCL1 | signal transduction; viral reproduction; chemotaxis; cellular calcium ion homeostasis; immune response | 17q12 |
| CCL11 | cell adhesion; positive regulation of endothelial cell proliferation; actin filament organization; cytoskeleton organization; immune response; inflammatory response; chemotaxis; cellular calcium ion homeostasis; protein phosphorylation; mast cell chemotaxis; chronic inflammatory response; positive regulation of angiogenesis; signal transduction; regulation of cell shape; response to radiation; response to virus; positive regulation of cell migration; positive regulation of actin filament polymerization; positive regulation of Rac GTPase activity; eosinophil chemotaxis; branching involved in mammary gland duct morphogenesis; mammary duct terminal end bud growth; ERK1 and ERK2 cascade; response to interleukin-4 | 17q12 |
| CCL13 | cellular calcium ion homeostasis; chemotaxis; inflammatory response; immune response; cytoskeleton organization; signal transduction; cell-cell signaling; regulation of cell shape; eosinophil chemotaxis | 17q11.2 |
| CCL14 | immune response; cellular calcium ion homeostasis; positive regulation of cell proliferation | 17q11.2 |
| CCL15 | cellular calcium ion homeostasis; chemotaxis; immune response; signal transduction; cell-cell signaling; positive chemotaxis | 17q11.2 |
| CCL15-CCL14 | - | 17q12 |
| CCL17 | chemotaxis; inflammatory response; immune response; G-protein coupled receptor signaling pathway; cell-cell signaling; multicellular organismal development | 16q13 |
| CCL18 | immune response; response to biotic stimulus; cell-cell signaling; signal transduction; cell communication; inflammatory response; chemotaxis | 17q11.2 |
| CCL19 | inflammatory response; establishment of T cell polarity; immunological synapse formation; dendritic cell chemotaxis; myeloid dendritic cell chemotaxis; positive regulation of dendritic cell antigen processing and presentation; cellular calcium ion homeostasis; positive regulation of protein kinase B signaling cascade; positive regulation of endocytosis; positive regulation of protein kinase activity; positive regulation of JNK cascade; positive regulation of receptor-mediated endocytosis; cell maturation; positive regulation of interleukin-1 beta secretion; positive regulation of chemotaxis; release of sequestered calcium ion into cytosol; immune response; regulation of cell projection assembly; positive regulation of ERK1 and ERK2 cascade; response to nitric oxide; interleukin-12 secretion; positive regulation of neutrophil chemotaxis; negative regulation of leukocyte apoptosis; positive regulation of cell motility; positive regulation of phosphatidylinositol 3-kinase activity; cell communication; activation | 9p13 |
| CCL2 | neutrophil chemotaxis; response to amino acid stimulus; response to drug; helper T cell extravasation; response to vitamin B3; response to progesterone stimulus; lipopolysaccharide-mediated signaling pathway; organ regeneration; endoplasmic reticulum unfolded protein response; cellular homeostasis; cytokine-mediated signaling pathway; viral genome replication; negative regulation of angiogenesis; maternal process involved in parturition; response to activity; apoptotic cell clearance; protein kinase B signaling cascade; astrocyte cell migration; cellular response to fibroblast growth factor stimulus; response to ethanol; response to antibiotic; vascular endothelial growth factor receptor signaling pathway; macrophage chemotaxis; lymphocyte chemotaxis; positive regulation of synaptic transmission; positive regulation of T cell activation; response to glucocorticoid stimulus; positive regulation of nitric-oxide synthase biosynthetic process; cellular response to lipopolysaccharide; signal transduction; MAPK cas | 17q11.2-q12 |
| CCL20 | chemotaxis; defense response to bacterium; chemokinesis; cell-cell signaling; signal transduction; immune response; inflammatory response | 2q36.3 |
| CCL22 | immune response; response to virus; cell-cell signaling; signal transduction; inflammatory response; chemotaxis | 16q13 |
| CCL23 | cell-cell signaling; monocyte chemotaxis; cellular calcium ion homeostasis; chemotaxis; inflammatory response; immune response; signal transduction; G-protein coupled receptor signaling pathway; negative regulation of C-C chemokine binding; negative regulation of cell proliferation | 17q12 |
| CCL24 | positive regulation of Rac GTPase activity; positive regulation of inflammatory response; eosinophil chemotaxis; positive regulation of angiogenesis; positive regulation of actin filament polymerization; positive regulation of cell migration; regulation of cell shape; cell-cell signaling; signal transduction; cytoskeleton organization; immune response; inflammatory response; chemotaxis; positive regulation of endothelial cell proliferation | 7q11.23 |
| CCL25 | chemotaxis; inflammatory response; immune response; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; leukocyte migration | 19p13.2 |
| CCL26 | positive regulation of endothelial cell proliferation; positive regulation of Rac GTPase activity; positive regulation of cell migration; cell-cell signaling; signal transduction; immune response; inflammatory response; chemotaxis; positive regulation of actin filament polymerization | 7q11.23 |
| CCL28 | immune response; elevation of cytosolic calcium ion concentration; chemotaxis | 5p12 |
| CCL3 | positive regulation of inflammatory response; lipopolysaccharide-mediated signaling pathway; positive regulation of interleukin-1 beta secretion; lymphocyte chemotaxis; macrophage chemotaxis; eosinophil chemotaxis; negative regulation of osteoclast differentiation; negative regulation by host of viral transcription; astrocyte cell migration; protein kinase B signaling cascade; eosinophil degranulation; positive regulation of tumor necrosis factor production; positive regulation of neuron apoptosis; positive regulation of calcium-mediated signaling; positive chemotaxis; positive regulation of protein kinase B signaling cascade; positive regulation of calcium ion transport; regulation of sensory perception of pain; positive regulation of ERK1 and ERK2 cascade; response to cholesterol; cellular response to interferon-gamma; cellular response to interleukin-1; cellular response to tumor necrosis factor; cellular response to organic cyclic compound; granulocyte chemotaxis; positive regulation of natural killer cel | 17q12 |
| CCL3L1 | - | 17q21.1 |
| CCL4L1 | chemotaxis; immune response; inflammatory response | 17q12 |
| CCL5 | positive regulation of cell-cell adhesion mediated by integrin; dibenzo-p-dioxin metabolic process; response to insulin stimulus; response to nutrient levels; lipopolysaccharide-mediated signaling pathway; positive regulation of fever generation; activation of phospholipase D activity; positive regulation of cellular biosynthetic process; pseudopodium assembly; positive regulation of cell migration; MAPK cascade; positive regulation of smooth muscle cell migration; response to activity; positive regulation of phosphatidylinositol 3-kinase cascade; positive regulation of T cell chemotaxis; positive regulation of macrophage chemotaxis; response to salt stress; positive regulation of activation of JAK2 kinase activity; positive regulation of gene expression; response to bacterium; dendritic cell chemotaxis; monocyte chemotaxis; regulation of chronic inflammatory response; protein phosphorylation; calcium ion transport; cellular calcium ion homeostasis; exocytosis; inflammatory response; immune response; leukocyt | 17q12 |
| CCL8 | cell-cell signaling; protein phosphorylation; exocytosis; cellular calcium ion homeostasis; calcium ion transport; chemotaxis; inflammatory response; immune response; signal transduction; response to virus | 17q11.2 |
| CCM2 | vasculogenesis; integrin-mediated signaling pathway; endothelial tube morphogenesis; stress-activated MAPK cascade; multicellular organismal development | 7p13 |
| CCM2L | - | 20q11.2 |
| CCNA1 | regulation of transcription involved in G1/S phase of mitotic cell cycle; male meiosis I; spermatogenesis; regulation of cyclin-dependent protein kinase activity; G2/M transition of mitotic cell cycle; mitotic cell cycle; mitosis; G1/S transition of mitotic cell cycle; cell division | 13q12.3-q13 |
| CCNA2 | mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; G2/M transition of mitotic cell cycle; mitosis; mitotic cell cycle G2/M transition DNA damage checkpoint; Ras protein signal transduction; positive regulation of transcription, DNA-dependent; cell division | 4q27 |
| CCNB1 | protein complex assembly; cell cycle checkpoint; negative regulation of protein phosphorylation; in utero embryonic development; oocyte maturation; mitotic cell cycle; mitotic prometaphase; G2/M transition of mitotic cell cycle; G1/S transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of cardiac muscle cell proliferation; ventricular cardiac muscle cell development; positive regulation of attachment of spindle microtubules to kinetochore; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; digestive tract development; response to DDT; positive regulation of mitotic cell cycle; mitotic spindle stabilization; response to drug; tissue regeneration; positive regulation of histone phosphorylation; positive regulation of mRNA 3'-end p | 5q12 |
| CCNB1IP1 | organ growth; spermatid development; meiotic metaphase I; chiasma assembly; blastocyst formation; apoptotic process | 14q11.2 |
| CCNB1IP1P2 | - | - |
| CCNB2 | mitosis; growth; T cell homeostasis; thymus development; cell division; regulation of G2/M transition of mitotic cell cycle; in utero embryonic development; mitotic cell cycle; G2/M transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; cell cycle checkpoint | 15q22.2 |
| CCNB3 | cell division; regulation of G2/M transition of mitotic cell cycle; meiosis; cell cycle; regulation of cyclin-dependent protein kinase activity | Xp11 |
| CCNC | regulation of cyclin-dependent protein kinase activity; gene expression; regulation of transcription, DNA-dependent | 6q21 |
| CCND1 | response to iron ion; cellular response to organic substance; mitotic cell cycle G1/S transition DNA damage checkpoint; organ regeneration; endoplasmic reticulum unfolded protein response; negative regulation of epithelial cell differentiation; negative regulation of Wnt receptor signaling pathway; response to organic cyclic compound; response to organic nitrogen; response to X-ray; liver development; re-entry into mitotic cell cycle; mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; positive regulation of cell proliferation; positive regulation of protein phosphorylation; response to DNA damage stimulus; lactation; response to estrogen stimulus; response to magnesium ion; response to vitamin E; Leydig cell differentiation; positive regulation of mammary gland epithelial cell proliferation; regulation of phosphorylation; response to drug; response to UV-A; fat cell differentiation; response to ethanol; positive regulation of cyclin-depend | 11q13 |
| CCND2 | cellular response to insulin stimulus; response to testosterone stimulus; response to peptide hormone stimulus; response to ethanol; regulation of neuron differentiation; positive regulation of cyclin-dependent protein kinase activity; response to cAMP; response to estradiol stimulus; response to organic cyclic compound; spermatogenesis; positive regulation of protein phosphorylation; liver development; ovarian follicle development; positive regulation of epithelial cell proliferation; cell division | 12p13 |
| CCND2-AS1 | - | 12p13.32 |
| CCND3 | positive regulation of protein phosphorylation; signal transduction; T cell proliferation; positive regulation of cyclin-dependent protein kinase activity; cell division | 6p21 |
| CCNDBP1 | cell cycle | 15q14-q15 |
| CCNE1 | response to cytokine stimulus; positive regulation of cell differentiation; positive regulation of transcription, DNA-dependent; regulation of cyclin-dependent protein kinase activity; G1/S transition of mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; response to ethanol; response to drug; mitotic cell cycle; regulation of phosphorylation; antral ovarian follicle growth; response to vitamin E; response to progesterone stimulus; response to estradiol stimulus; cellular response to nutrient; organ regeneration; androgen receptor signaling pathway; Wnt receptor signaling pathway; response to purine-containing compound; response to organic nitrogen; protein phosphorylation; DNA-dependent DNA replication initiation; liver development; response to methylmercury; response to corticosterone stimulus; cell division; regulation of catalytic activity | 19q12 |
| CCNE2 | cell division; mitotic cell cycle; G1/S transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; cell cycle checkpoint | 8q22.1 |
| CCNF | mitosis; cell division; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; negative regulation of centrosome duplication; cell cycle; placenta development; re-entry into mitotic cell cycle | 16p13.3 |
| CCNG1 | mitotic cell cycle G2/M transition DNA damage checkpoint; regulation of cyclin-dependent protein kinase activity; syncytium formation; cell cycle; mitosis; brain development; response to organic nitrogen; cell growth; negative regulation of apoptotic process; cell division | 5q32-q34 |
| CCNG2 | cell division; regulation of cell cycle; mitosis; cell cycle checkpoint | 4q21.1 |
| CCNH | transcription initiation from RNA polymerase II promoter; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; mitotic cell cycle; nucleotide-excision repair, DNA damage removal; positive regulation of viral transcription; transcription from RNA polymerase II promoter; termination of RNA polymerase I transcription; transcription elongation from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; transcription elongation from RNA polymerase II promoter; mRNA capping; protein phosphorylation; gene expression; viral reproduction; positive regulation of transcription from RNA polymerase II promoter | 5q13.3-q14 |
| CCNI | spermatogenesis | 4q21.1 |
| CCNI2 | regulation of cyclin-dependent protein kinase activity | 5q31.1 |
| CCNJ | - | 10q23.33 |
| CCNJL | - | 5q33.3 |
| CCNJP1 | - | 7p11.2 |
| CCNK | cell division; mitosis; cell cycle; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; regulation of cyclin-dependent protein kinase activity | 14q32 |
| CCNL1 | RNA processing; regulation of cyclin-dependent protein kinase activity; regulation of transcription, DNA-dependent | 3q25.31 |
| CCNL2 | RNA processing; regulation of transcription, DNA-dependent; regulation of cyclin-dependent protein kinase activity | 1p36.33 |
| CCNO | cell cycle; regulation of cyclin-dependent protein kinase activity; DNA repair; base-excision repair; base-excision repair, AP site formation; depyrimidination; cell division | 5q11.2 |
| CCNT1 | regulation of cyclin-dependent protein kinase activity; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; protein phosphorylation; cell cycle; gene expression; viral reproduction; cell division; positive regulation of viral transcription; interspecies interaction between organisms | 12q13.11 |
| CCNT2 | interspecies interaction between organisms; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; regulation of cyclin-dependent protein kinase activity; transcription elongation from RNA polymerase II promoter; cell cycle; cell division; gene expression; viral reproduction | 2q21.3 |
| CCNT2-AS1 | - | 2q21.3 |
| CCNT2P1 | - | - |
| CCNY | cell division; regulation of canonical Wnt receptor signaling pathway; positive regulation of cyclin-dependent protein kinase activity; Wnt receptor signaling pathway; G2/M transition of mitotic cell cycle; cell cycle | 10p11.21 |
| CCNYL1 | regulation of cyclin-dependent protein kinase activity | 2q33.3 |
| CCNYL2 | regulation of cyclin-dependent protein kinase activity | 10q11.21 |
| CCP110 | G2/M transition of mitotic cell cycle; mitotic cell cycle; centriole replication; regulation of cytokinesis; centrosome duplication | 16p12.3 |
| CCPG1 | cell cycle | 15q21.1 |
| CCR1 | chemokine-mediated signaling pathway; negative regulation of bone mineralization; cytokine-mediated signaling pathway; negative regulation of gene expression; response to wounding; cell-cell signaling; elevation of cytosolic calcium ion concentration; G-protein signaling, coupled to cyclic nucleotide second messenger; cell surface receptor signaling pathway; cell adhesion; inflammatory response; dendritic cell chemotaxis; calcium ion transport; positive regulation of osteoclast differentiation; cellular calcium ion homeostasis; positive regulation of calcium ion transport; positive regulation of ERK1 and ERK2 cascade; immune response; chemotaxis; exocytosis | 3p21 |
| CCR10 | chemotaxis; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration | 17q21.1-q21.3 |
| CCR2 | T-helper 17 cell chemotaxis; cytokine-mediated signaling pathway; cellular homeostasis; positive regulation of cell migration; positive regulation of interferon-gamma production; positive regulation of interleukin-2 production; JAK-STAT cascade; monocyte extravasation; positive regulation of immune complex clearance by monocytes and macrophages; positive regulation of T cell activation; positive regulation of T cell extravasation; positive regulation of monocyte chemotaxis; chemokine-mediated signaling pathway; positive regulation of tumor necrosis factor biosynthetic process; negative regulation of eosinophil degranulation; astrocyte cell migration; interspecies interaction between organisms; innate immune response; positive regulation of alpha-beta T cell proliferation; positive regulation of inflammatory response; elevation of cytosolic calcium ion concentration; positive regulation of T cell chemotaxis; regulation of vascular endothelial growth factor production; response to wounding; blood vessel remodel | 3p21.31 |
| CCR3 | eosinophil chemotaxis; chemotaxis; mast cell chemotaxis; positive regulation of endothelial cell proliferation; positive regulation of angiogenesis; inflammatory response; interspecies interaction between organisms; elevation of cytosolic calcium ion concentration; G-protein signaling, coupled to cAMP nucleotide second messenger; cellular defense response; ERK1 and ERK2 cascade; cell adhesion | 3p21.3 |
| CCR4 | elevation of cytosolic calcium ion concentration; immune response; inflammatory response; chemotaxis; tolerance induction; neuron migration | 3p24 |
| CCR5 | cellular defense response; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway; cell surface receptor signaling pathway; immune response; inflammatory response; chemotaxis; calcium ion transport; dendritic cell chemotaxis; MAPK cascade; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; viral reproduction; initiation of viral infection; calcium-mediated signaling; signaling; entry into host cell; interspecies interaction between organisms; response to cholesterol; cellular response to lipopolysaccharide; cell-cell signaling | 3p21.31 |
| CCR6 | chemotaxis; cellular defense response; humoral immune response; immune response; cellular component movement; dendritic cell chemotaxis; signal transduction; innate immune response; elevation of cytosolic calcium ion concentration | 6q27 |
| CCR7 | positive regulation of dendritic cell antigen processing and presentation; activation of Rho GTPase activity; positive regulation of interleukin-12 production; regulation of interferon-gamma production; response to lipopolysaccharide; ruffle organization; T cell costimulation; positive regulation of pseudopodium assembly; dendritic cell chemotaxis; myeloid dendritic cell chemotaxis; positive regulation of glycoprotein biosynthetic process; positive regulation of humoral immune response; chemotaxis; inflammatory response; immune response; positive regulation of actin filament polymerization; positive regulation of hypersensitivity; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration; release of sequestered calcium ion into cytosol; positive regulation of cell motility; negative regulation of leukocyte apoptosis; lymphocyte migration into lymph node; positive regulation of neutrophil chemotaxis; interleukin-12 secretion; response to nitric oxide; positive regulation of | 17q12-q21.2 |
| CCR8 | chemotaxis; immune response; cell adhesion; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway | 3p22 |
| CCR9 | chemotaxis; immune response; cellular defense response; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway | 3p21.3 |
| CCRL1P1 | - | 6q24.1 |
| CCRL2 | - | 3p21 |
| CCS | superoxide metabolic process; intracellular copper ion transport; oxidation-reduction process; copper ion transmembrane transport; metal ion transport; removal of superoxide radicals | 11q13 |
| CCSAP | - | 1q42.13 |
| CCSER1 | - | 4q22.1 |
| CCSER2 | - | 10q23.1 |
| CCT2 | protein folding; chaperone-mediated protein complex assembly; cellular protein metabolic process; 'de novo' posttranslational protein folding | 12q15 |
| CCT3 | 'de novo' posttranslational protein folding; cellular protein metabolic process; protein folding | 1q23 |
| CCT4 | protein folding; cellular protein metabolic process; 'de novo' posttranslational protein folding | 2p15 |
| CCT4P2 | - | Xq11.2 |
| CCT5 | 'de novo' posttranslational protein folding; cellular protein metabolic process; response to virus; protein folding | 5p15.2 |
| CCT5P1 | - | 5q22.3 |
| CCT5P2 | - | 13q31.1 |
| CCT6A | cellular protein metabolic process; 'de novo' posttranslational protein folding; protein folding | 7p11.2 |
| CCT6B | spermatogenesis; protein transport; chaperone-mediated protein complex assembly; protein folding | 17q12 |
| CCT6P1 | - | 7q11.21 |
| CCT6P2 | - | 5p15.2 |
| CCT6P3 | - | 7q11.21 |
| CCT7 | 'de novo' posttranslational protein folding; cellular protein metabolic process; protein folding | 2p13.2 |
| CCT7P1 | - | 6q25.1 |
| CCT7P2 | - | 5q14.3 |
| CCT8 | 'de novo' posttranslational protein folding; cellular protein metabolic process; protein folding | 21q22.11 |
| CCT8P1 | - | 1q21.1 |
| CCZ1 | - | 7p22.1 |
| CCZ1B | - | 7p22.1 |
| CD101 | cell surface receptor signaling pathway | 1p13 |
| CD109 | - | 6q13 |
| CD14 | cell surface receptor signaling pathway; inflammatory response; Toll signaling pathway; response to heat; positive regulation of tumor necrosis factor production; innate immune response; positive regulation of cytokine secretion; cellular response to lipopolysaccharide; cellular response to lipoteichoic acid; apoptotic process; phagocytosis | 5q31.1 |
| CD151 | cell junction assembly; cell adhesion; hemidesmosome assembly | 11p15.5 |
| CD160 | regulation of immune response; cell proliferation; cell surface receptor signaling pathway; cellular defense response | 1q21.1 |
| CD163 | acute-phase response; inflammatory response | 12p13.3 |
| CD163L1 | - | 12p13.3 |
| CD164 | heterophilic cell-cell adhesion; signal transduction; hemopoiesis; negative regulation of cell proliferation; muscle organ development; immune response; cell adhesion; multicellular organismal development; negative regulation of cell adhesion | 6q21 |
| CD164L2 | - | 1p36.11 |
| CD177 | leukocyte migration; blood coagulation | 19q13.2 |
| CD177P1 | - | 19q13.31 |
| CD180 | inflammatory response; innate immune response | 5q12 |
| CD19 | cellular defense response; cell surface receptor signaling pathway; regulation of immune response | 16p11.2 |
| CD1A | antigen processing and presentation; immune response | 1q22-q23 |
| CD1B | antigen processing and presentation; immune response | 1q22-q23 |
| CD1C | immune response; T cell activation involved in immune response; antigen processing and presentation | 1q22-q23 |
| CD1D | antigen processing and presentation, endogenous lipid antigen via MHC class Ib; positive regulation of innate immune response; T cell selection; positive regulation of T cell proliferation; heterotypic cell-cell adhesion; antigen processing and presentation; detection of bacterium; interspecies interaction between organisms | 1q22-q23 |
| CD1E | antigen processing and presentation; immune response | 1q22-q23 |
| CD2 | T cell activation; positive regulation of myeloid dendritic cell activation; regulation of T cell differentiation; leukocyte migration; natural killer cell activation; cell-cell adhesion; blood coagulation; cell surface receptor signaling pathway; induction of apoptosis; membrane raft polarization | 1p13.1 |
| CD200 | regulation of immune response | 3q12-q13 |
| CD200R1 | interspecies interaction between organisms; regulation of immune response | 3q13.2 |
| CD200R1L | - | 3q13.2 |
| CD207 | defense response to virus; antigen processing and presentation of exogenous peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I | 2p13 |
| CD209 | intracellular virion transport; endocytosis; cell adhesion; heterophilic cell-cell adhesion; leukocyte cell-cell adhesion; cell-cell recognition; virus-host interaction; virion attachment to host cell surface receptor; viral genome replication; antigen processing and presentation; intracellular signal transduction; interspecies interaction between organisms; peptide antigen transport; innate immune response | 19p13 |
| CD22 | cell adhesion | 19q13.1 |
| CD226 | positive regulation of mast cell activation; signal transduction; cell adhesion; positive regulation of immunoglobulin mediated immune response; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; cytokine production; cell recognition; positive regulation of Fc receptor mediated stimulatory signaling pathway; regulation of immune response; positive regulation of natural killer cell mediated cytotoxicity | 18q22.3 |
| CD24 | cell migration; respiratory burst; response to estrogen stimulus; regulation of MAPK cascade; response to hypoxia; cell activation; regulation of cytokine-mediated signaling pathway; positive regulation of MAP kinase activity; cholesterol homeostasis; regulation of phosphorylation; response to molecule of bacterial origin; positive regulation of protein tyrosine kinase activity; regulation of epithelial cell differentiation; cell-cell adhesion; Wnt receptor signaling pathway; induction of apoptosis by intracellular signals; axon guidance; elevation of cytosolic calcium ion concentration; immune response-regulating cell surface receptor signaling pathway; T cell costimulation; B cell receptor transport into membrane raft; chemokine receptor transport out of membrane raft; negative regulation of transforming growth factor beta3 production; positive regulation of activated T cell proliferation | 6q21 |
| CD244 | signal transduction; blood coagulation; leukocyte migration | 1q23.3 |
| CD247 | regulation of defense response to virus by virus; regulation of immune response; T cell costimulation; viral reproduction; cell surface receptor signaling pathway; T cell receptor signaling pathway; interspecies interaction between organisms | 1q24.2 |
| CD248 | - | 11q13 |
| CD24P2 | - | 15q21.3 |
| CD27 | induction of apoptosis; cell surface receptor signaling pathway; release of cytoplasmic sequestered NF-kappaB; immunoglobulin mediated immune response; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; response to ethanol; positive regulation of B cell differentiation; anti-apoptosis; positive regulation of JNK cascade | 12p13 |
| CD27-AS1 | - | 12p13.31 |
| CD274 | negative regulation of T cell proliferation; peptidyl-tyrosine dephosphorylation; T cell costimulation; cell proliferation; immune response; signal transduction; cell surface receptor signaling pathway | 9p24 |
| CD276 | regulation of immune response; positive regulation of bone mineralization; negative regulation of inflammatory response; positive regulation of osteoblast differentiation; negative regulation of interleukin-2 biosynthetic process; positive regulation of interferon-gamma biosynthetic process; positive regulation of T cell proliferation; cell proliferation; immune response; T cell activation; negative regulation of T cell proliferation; negative regulation of interferon-gamma biosynthetic process | 15q23-q24 |
| CD28 | T cell activation; positive regulation of viral genome replication; negative thymic T cell selection; regulation of defense response to virus by virus; positive regulation of isotype switching to IgG isotypes; positive regulation of alpha-beta T cell proliferation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of mitosis; positive regulation of anti-apoptosis; positive regulation of translation; positive regulation of interleukin-2 biosynthetic process; positive regulation of T cell proliferation; cytokine biosynthetic process; T cell costimulation; viral reproduction; induction of apoptosis by extracellular signals; cell surface receptor signaling pathway; humoral immune response; immune response; positive regulation of inflammatory response to antigenic stimulus; regulatory T cell differentiation | 2q33 |
| CD2AP | signal transduction; mitosis; cell cycle; cell division; substrate-dependent cell migration, cell extension; protein complex assembly | 6p12 |
| CD2BP2 | nuclear mRNA splicing, via spliceosome; assembly of spliceosomal tri-snRNP; negative regulation of phosphatase activity; gene expression; RNA splicing | 16p11.2 |
| CD300A | cell adhesion | 17q25.1 |
| CD300C | cellular defense response | 17q25.1 |
| CD300LB | - | 17q25.1 |
| CD300LF | - | 17q25.1 |
| CD300LG | - | 17q21.31 |
| CD302 | - | 2q24.2 |
| CD320 | regulation of cell growth | 19p13.3-p13.2 |
| CD33 | cell adhesion; negative regulation of cell proliferation; cell-cell signaling; signal transduction | 19q13.3 |
| CD34 | cellular response to hypoxia; positive regulation of odontogenesis; negative regulation of nitric oxide biosynthetic process; positive regulation of angiogenesis; cell motility; regulation of immune response; leukocyte migration; transdifferentiation; negative regulation of necrotic cell death; vascular wound healing; interleukin-2 secretion; hemopoietic stem cell proliferation; cell adhesion; positive regulation of transforming growth factor beta production; positive regulation of granulocyte colony-stimulating factor production; extracellular vesicular exosome assembly; glomerular endothelium development; stem cell proliferation; metanephric glomerular mesangial cell differentiation; positive regulation of vasculogenesis; mesangial cell-matrix adhesion; glutamate metabolic process; endothelium development; glomerular filtration; endothelial cell proliferation; tissue homeostasis; signal transduction; regulation of blood pressure; cell proliferation; positive regulation of gene expression; negative regulatio | 1q32 |
| CD36 | positive regulation of cell-matrix adhesion; pattern recognition receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; positive regulation of reactive oxygen species metabolic process; positive regulation of blood microparticle formation; negative regulation of gene expression; positive regulation of interleukin-6 production; positive regulation of interleukin-12 production; cholesterol transport; positive regulation of blood coagulation; platelet activation; cGMP-mediated signaling; lipid storage; plasma membrane long-chain fatty acid transport; positive regulation of cholesterol storage; positive regulation of macrophage derived foam cell differentiation; cellular response to hydroperoxide; blood coagulation; nitric oxide mediated signal transduction; cell surface receptor signaling pathway; cell adhesion; phagocytosis, recognition; transport; lipid metabolic process; platelet degranulation; antigen processing and presentation of exogenous peptide antigen via MHC | 7q11.2 |
| CD37 | regulation of humoral immune response; positive regulation of immunoglobulin production | 19q13.3 |
| CD38 | positive regulation of cell growth; response to interleukin-1; long term synaptic depression; B cell receptor signaling pathway; positive regulation of vasoconstriction; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of apoptotic process; negative regulation of bone resorption; response to hypoxia; signal transduction; elevation of cytosolic calcium ion concentration; female pregnancy; metabolic process; induction of apoptosis by extracellular signals; response to hormone stimulus; positive regulation of B cell proliferation; positive regulation of insulin secretion; response to estradiol stimulus; response to retinoic acid; response to progesterone stimulus; response to hydroperoxide; response to drug | 4p15 |
| CD3D | T cell differentiation; T cell receptor signaling pathway; regulation of immune response; positive regulation of transcription from RNA polymerase II promoter; positive thymic T cell selection; T cell costimulation; cell surface receptor signaling pathway | 11q23 |
| CD3E | negative regulation of smoothened signaling pathway; positive regulation of alpha-beta T cell proliferation; positive regulation of peptidyl-tyrosine phosphorylation; regulation of immune response; positive regulation of calcium-mediated signaling; T cell receptor signaling pathway; positive regulation of interleukin-2 biosynthetic process; negative thymic T cell selection; regulation of apoptotic process; T cell activation; positive regulation of T cell proliferation; positive regulation of interleukin-4 production; positive regulation of interferon-gamma production; T cell costimulation; induction of apoptosis by extracellular signals; response to nutrient; G-protein coupled receptor signaling pathway; positive regulation of T cell anergy; protein complex assembly; cell surface receptor signaling pathway; transmembrane receptor protein tyrosine kinase signaling pathway; T cell differentiation in thymus; signal complex assembly | 11q23 |
| CD3EAP | rRNA transcription; transmembrane receptor protein tyrosine kinase signaling pathway | 19q13.3 |
| CD3G | T cell costimulation; protein complex assembly; establishment or maintenance of cell polarity; cell surface receptor signaling pathway; protein transport; T cell activation; regulation of apoptotic process; regulation of immune response; T cell receptor signaling pathway | 11q23 |
| CD4 | cytokine production; immune response; regulation of T cell activation; T cell receptor signaling pathway; positive regulation of calcium-mediated signaling; positive regulation of peptidyl-tyrosine phosphorylation; regulation of defense response to virus by virus; positive regulation of protein kinase activity; protein palmitoleylation; innate immune response; positive regulation of interleukin-2 biosynthetic process; T cell selection; interspecies interaction between organisms; maintenance of protein location in cell; T cell costimulation; entry into host cell; T cell differentiation; initiation of viral infection; viral reproduction; transmembrane receptor protein tyrosine kinase signaling pathway; enzyme linked receptor protein signaling pathway; cell surface receptor signaling pathway; signal transduction; cell adhesion; induction by virus of host cell-cell fusion | 12p13.31 |
| CD40 | positive regulation of transcription from RNA polymerase II promoter; positive regulation of protein phosphorylation; positive regulation of endothelial cell apoptosis; positive regulation of protein kinase C signaling cascade; cellular response to mechanical stimulus; defense response to virus; positive regulation of NF-kappaB transcription factor activity; regulation of immunoglobulin secretion; regulation of immune response; positive regulation of isotype switching to IgG isotypes; positive regulation of MAP kinase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of Cdc42 GTPase activity; B cell proliferation; immune response-regulating cell surface receptor signaling pathway; protein complex assembly; cellular calcium ion homeostasis; inflammatory response; signal transduction; platelet activation; positive regulation of B cell proliferation; positive regulation of interleukin-12 production; positive regulation of Rac GTPase activity; positive regulation of tyrosine | 20q12-q13.2 |
| CD40LG | immune response; positive regulation of endothelial cell apoptosis; regulation of immunoglobulin secretion; regulation of immune response; positive regulation of MHC class II biosynthetic process; isotype switching; B cell proliferation; positive regulation of interleukin-12 production; positive regulation of interleukin-10 production; positive regulation of B cell proliferation; B cell differentiation; platelet activation; leukocyte cell-cell adhesion; positive regulation of interferon-gamma production; inflammatory response; anti-apoptosis; positive regulation of immune response to tumor cell | Xq26 |
| CD44 | cartilage development; positive regulation of peptidyl-tyrosine phosphorylation; negative regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; positive regulation of heterotypic cell-cell adhesion; positive regulation of peptidyl-serine phosphorylation; hyaluronan catabolic process; cytokine-mediated signaling pathway; cell-cell adhesion; cell-matrix adhesion; interferon-gamma-mediated signaling pathway; cell adhesion; positive regulation of ERK1 and ERK2 cascade; monocyte aggregation | 11p13 |
| CD46 | interspecies interaction between organisms; complement activation, classical pathway; innate immune response; single fertilization | 1q32 |
| CD46P1 | - | 1q32 |
| CD47 | cell adhesion; integrin-mediated signaling pathway; blood coagulation; positive regulation of cell proliferation; positive regulation of cell-cell adhesion; positive regulation of T cell activation; leukocyte migration | 3q13.1-q13.2 |
| CD48 | leukocyte migration; mast cell activation; T cell activation; blood coagulation; defense response; signal transduction | 1q21.3-q22 |
| CD5 | T cell costimulation; induction of apoptosis by extracellular signals; cell proliferation; cell recognition | 11q13 |
| CD52 | respiratory burst; elevation of cytosolic calcium ion concentration | 1p36 |
| CD53 | signal transduction | 1p13 |
| CD55 | complement activation, classical pathway; elevation of cytosolic calcium ion concentration; innate immune response; respiratory burst | 1q32 |
| CD58 | cell adhesion; blood coagulation; cell-cell adhesion; leukocyte migration | 1p13 |
| CD59 | cell surface receptor signaling pathway; blood coagulation | 11p13 |
| CD5L | cellular defense response; apoptotic process | 1q21-q23 |
| CD6 | cell adhesion | 11q13 |
| CD63 | platelet degranulation; blood coagulation; platelet activation | 12q12-q13 |
| CD68 | - | 17p13 |
| CD69 | cellular response to drug | 12p13 |
| CD7 | T cell activation; homeostasis of number of cells within a tissue; transmembrane receptor protein tyrosine kinase signaling pathway; immune response | 17q25.2-q25.3 |
| CD70 | immune response; cell proliferation; cell-cell signaling; signal transduction; induction of apoptosis | 19p13 |
| CD72 | axon guidance; cell adhesion | 9p13.3 |
| CD74 | negative regulation of apoptotic process; positive regulation of cytokine-mediated signaling pathway; positive regulation of dendritic cell antigen processing and presentation; negative regulation of peptide secretion; positive regulation of type 2 immune response; negative regulation of mature B cell apoptosis; protein complex assembly; activation of MAPK activity; prostaglandin biosynthetic process; positive regulation of neutrophil chemotaxis; negative regulation of DNA damage response, signal transduction by p53 class mediator; T cell selection; positive thymic T cell selection; negative thymic T cell selection; negative regulation of T cell differentiation; positive regulation of T cell differentiation; positive regulation of fibroblast proliferation; positive regulation of peptidyl-tyrosine phosphorylation; chaperone mediated protein folding requiring cofactor; positive regulation of macrophage cytokine production; positive regulation of ERK1 and ERK2 cascade; positive regulation of chemokine (C-X-C mot | 5q32 |
| CD79A | B cell receptor signaling pathway; B cell activation; B cell proliferation; B cell differentiation; cell surface receptor signaling pathway | 19q13.2 |
| CD79B | cell surface receptor signaling pathway; signal transduction; immune response | 17q23 |
| CD80 | cell-cell signaling; positive regulation of signal transduction; T cell costimulation; intracellular signal transduction; T cell activation; interspecies interaction between organisms; positive regulation of interleukin-2 biosynthetic process; positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process; positive regulation of T-helper 1 cell differentiation; positive regulation of transcription, DNA-dependent; positive regulation of alpha-beta T cell proliferation; positive regulation of peptidyl-tyrosine phosphorylation | 3q13.3-q21 |
| CD81 | response to wounding; positive regulation of cell proliferation; regulation of immune response; positive regulation of peptidyl-tyrosine phosphorylation; virion attachment, binding of host cell surface receptor; entry of virus into host cell; phosphatidylinositol metabolic process; interspecies interaction between organisms; positive regulation of 1-phosphatidylinositol 4-kinase activity; regulation of growth; activation of MAPK activity; phosphatidylinositol biosynthetic process; protein localization; cell proliferation | 11p15.5 |
| CD81-AS1 | - | 11p15.5 |
| CD82 | - | 11p11.2 |
| CD83 | positive regulation of CD4-positive, alpha-beta T cell differentiation; defense response; humoral immune response; signal transduction; response to organic cyclic compound; negative regulation of interleukin-4 production; positive regulation of interleukin-10 production; positive regulation of interleukin-2 production | 6p23 |
| CD84 | defense response; cell adhesion; homophilic cell adhesion; blood coagulation; leukocyte migration | 1q24 |
| CD86 | positive regulation of interleukin-4 biosynthetic process; toll-like receptor signaling pathway; cell-cell signaling; defense response to virus; positive regulation of transcription, DNA-dependent; positive regulation of T-helper 2 cell differentiation; positive regulation of interleukin-2 biosynthetic process; interspecies interaction between organisms; positive regulation of lymphotoxin A biosynthetic process; B cell activation; T cell activation; T cell costimulation; positive regulation of cell proliferation; immune response | 3q21 |
| CD8A | antigen processing and presentation; T cell mediated immunity; transmembrane receptor protein tyrosine kinase signaling pathway; cell surface receptor signaling pathway; immune response; defense response to virus; positive regulation of calcium-mediated signaling; T cell activation; cytotoxic T cell differentiation; regulation of immune response | 2p12 |
| CD8B | regulation of immune response; regulation of defense response to virus by virus; T cell activation; viral reproduction; transmembrane receptor protein tyrosine kinase signaling pathway; immune response | 2p12 |
| CD8BP | - | 2q12.1 |
| CD9 | oligodendrocyte development; platelet degranulation; cellular component movement; cell adhesion; fusion of sperm to egg plasma membrane; brain development; blood coagulation; negative regulation of cell proliferation; paranodal junction assembly; platelet activation; response to water deprivation | 12p13.3 |
| CD93 | cell-cell adhesion; interspecies interaction between organisms; macrophage activation; phagocytosis | 20p11.21 |
| CD96 | regulation of immune response; cell adhesion; immune response | 3q13.13-q13.2 |
| CD99 | cell adhesion | Xp22.32 and Yp11.3 |
| CD99L2 | cell adhesion | Xq28 |
| CD99P1 | - | Xp22.33;Yp11.31 |
| CDA | cellular response to external biotic stimulus; nucleobase-containing small molecule metabolic process; pyrimidine base metabolic process; cell surface receptor signaling pathway; pyrimidine-containing compound salvage; cytidine deamination; cytosine metabolic process; negative regulation of cell growth; pyrimidine nucleoside salvage; small molecule metabolic process; negative regulation of nucleotide metabolic process; response to cycloheximide; protein homotetramerization | 1p36.2-p35 |
| CDADC1 | - | 13q14.2 |
| CDAN1 | - | 15q15.2 |
| CDC123 | cell cycle; G1 phase of mitotic cell cycle; cell cycle arrest; regulation of mitotic cell cycle; positive regulation of cell proliferation; cell division | 10p13 |
| CDC14A | cell proliferation; cell cycle; cell division | 1p21 |
| CDC14B | protein dephosphorylation; G2/M transition DNA damage checkpoint; DNA repair; peptidyl-tyrosine dephosphorylation; activation of anaphase-promoting complex activity | 9q22.3 |
| CDC14BL | - | 7p12.3 |
| CDC14C | - | 7p12.3 |
| CDC16 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; mitosis; regulation of mitosis; mitotic cell cycle spindle assembly checkpoint; cell proliferation; mitotic cell cycle; cell division; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell cycle checkpoint; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination | 13q34 |
| CDC20 | positive regulation of synapse maturation; activation of anaphase-promoting complex activity; positive regulation of synaptic plasticity; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; cell cycle checkpoint; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; cell cycle; mitotic cell cycle spindle assembly checkpoint; nervous system development; positive regulation of cell proliferation; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of dendrite development; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell differentiation | 1p34.1 |
| CDC20B | - | 5q11.2 |
| CDC20P1 | - | 9q21.33 |
| CDC23 | G1 phase of mitotic cell cycle; mitotic cell cycle spindle assembly checkpoint; regulation of exit from mitosis; protein ubiquitination; regulation of mitotic metaphase/anaphase transition; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell division; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell cycle checkpoint; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; mitotic metaphase/anaphase transition; mitotic metaphase plate congression; mitosis; cell cycle; ubiquitin-dependent protein catabolic process; mitotic cell cycle | 5q31 |
| CDC25A | DNA replication; mitotic cell cycle; cell cycle checkpoint; regulation of cyclin-dependent protein kinase activity; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; cell division; cellular response to UV; response to radiation; cell proliferation; mitosis | 3p21 |
| CDC25B | positive regulation of protein kinase activity; positive regulation of cell cycle cytokinesis; cell division; positive regulation of mitotic cell cycle; peptidyl-tyrosine dephosphorylation; positive regulation of cell proliferation; female meiosis I; mitosis; protein phosphorylation; oocyte maturation; mitotic cell cycle; G2/M transition of mitotic cell cycle | 20p13 |
| CDC25C | regulation of cyclin-dependent protein kinase activity; regulation of cell cycle; cell division; interspecies interaction between organisms; peptidyl-tyrosine dephosphorylation; cell proliferation; traversing start control point of mitotic cell cycle; regulation of mitosis; DNA replication; mitotic cell cycle; M phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; cell cycle checkpoint | 5q31 |
| CDC26 | mitosis; protein K11-linked ubiquitination; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell cycle checkpoint; cell division; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; regulation of mitotic metaphase/anaphase transition; mitotic cell cycle spindle assembly checkpoint; mitotic cell cycle | 9q32 |
| CDC27 | mitotic cell cycle spindle assembly checkpoint; cell cycle checkpoint; mitotic cell cycle; mitotic metaphase/anaphase transition; protein K11-linked ubiquitination; cell proliferation; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle | 17q21.32 |
| CDC34 | G1/S transition of mitotic cell cycle; negative regulation of cAMP-mediated signaling; proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; cell cycle; protein modification process; DNA-dependent DNA replication initiation; protein polyubiquitination; protein K48-linked ubiquitination | 19p13.3 |
| CDC37 | regulation of cyclin-dependent protein kinase activity; protein targeting; regulation of interferon-gamma-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway | 19p13.2 |
| CDC37L1 | - | 9p24.1 |
| CDC37L1-AS1 | - | 9p24.1 |
| CDC37P1 | - | 16p11.2 |
| CDC40 | nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; cell division; mRNA 3'-end processing; gene expression; RNA splicing; mRNA export from nucleus | 6q21 |
| CDC42 | positive regulation of muscle cell differentiation; regulation of small GTPase mediated signal transduction; actin filament bundle assembly; neuron fate determination; filopodium assembly; positive regulation of JNK cascade; regulation of protein kinase activity; positive regulation of DNA replication; positive regulation of phosphatidylinositol 3-kinase activity; regulation of protein heterodimerization activity; cell division; regulation of filopodium assembly; nucleus localization; regulation of attachment of spindle microtubules to kinetochore; canonical Wnt receptor signaling pathway; epithelial-mesenchymal cell signaling; hair follicle placode formation; positive regulation of hair follicle cell proliferation; positive regulation of cell cycle cytokinesis; epithelial cell-cell adhesion; blood coagulation; muscle cell differentiation; nervous system development; small GTPase mediated signal transduction; epidermal growth factor receptor signaling pathway; establishment or maintenance of cell polarity; nu | 1p36.1 |
| CDC42-IT1 | - | - |
| CDC42BPA | intracellular signal transduction; protein phosphorylation; cell migration; actin cytoskeleton reorganization; actomyosin structure organization | 1q42.11 |
| CDC42BPB | intracellular signal transduction; actomyosin structure organization; cell migration; signal transduction; establishment or maintenance of cell polarity; cytoskeleton organization; protein phosphorylation; actin cytoskeleton reorganization | 14q32.3 |
| CDC42BPG | intracellular signal transduction; protein phosphorylation; actin cytoskeleton reorganization | 11q13.1 |
| CDC42EP1 | positive regulation of pseudopodium assembly; regulation of cell shape | 22q13.1 |
| CDC42EP2 | actin cytoskeleton organization; positive regulation of actin filament polymerization; positive regulation of pseudopodium assembly; positive regulation of protein complex assembly; positive regulation of Rho GTPase activity; regulation of cell shape; actin filament organization | 11q13 |
| CDC42EP3 | regulation of cell shape; signal transduction | 2p21 |
| CDC42EP4 | positive regulation of pseudopodium assembly; regulation of cell shape; Rho protein signal transduction | 17q24-q25 |
| CDC42EP5 | positive regulation of actin filament polymerization; regulation of cell shape; positive regulation of pseudopodium assembly; Rho protein signal transduction; JNK cascade | 19q13.42 |
| CDC42P2 | - | 7p11.2 |
| CDC42P3 | - | 8q24.3 |
| CDC42P6 | - | 4p15.2 |
| CDC42SE1 | regulation of cell shape; signal transduction; phagocytosis | 1q21.3 |
| CDC42SE2 | regulation of signal transduction; phagocytosis; regulation of cell shape | 5q31.1 |
| CDC45 | DNA replication checkpoint; cell cycle checkpoint; G1/S transition of mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; S phase of mitotic cell cycle; M/G1 transition of mitotic cell cycle; DNA replication; DNA-dependent DNA replication initiation; DNA strand elongation involved in DNA replication; mitotic cell cycle | 22q11.21 |
| CDC5L | cell cycle; RNA splicing; regulation of transcription, DNA-dependent; nuclear mRNA splicing, via spliceosome | 6p21 |
| CDC6 | regulation of mitotic anaphase; positive regulation of cell cycle cytokinesis; positive regulation of chromosome segregation; cell division; negative regulation of cell proliferation; negative regulation of DNA replication; traversing start control point of mitotic cell cycle; mitosis; DNA replication; mitotic cell cycle; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; DNA replication checkpoint; cell cycle checkpoint | 17q21.3 |
| CDC7 | phosphorylation; cell cycle checkpoint; G1/S transition of mitotic cell cycle; M/G1 transition of mitotic cell cycle; mitotic cell cycle; DNA replication; positive regulation of cell proliferation; regulation of S phase; cell division | 1p22 |
| CDC73 | transcription, DNA-dependent; negative regulation of epithelial cell proliferation; negative regulation of fibroblast proliferation; histone H2B ubiquitination; protein destabilization; histone monoubiquitination; cell cycle; negative regulation of transcription from RNA polymerase II promoter | 1q25 |
| CDCA2 | mitosis; cell cycle; cell division | 8p21.2 |
| CDCA3 | cell division; mitosis; cell cycle | 12p13 |
| CDCA4 | - | 14q32.33 |
| CDCA5 | double-strand break repair; cell cycle; regulation of cohesin localization to chromatin; G1/S transition of mitotic cell cycle; mitotic sister chromatid cohesion; mitosis; mitotic chromosome condensation; mitotic metaphase plate congression; cell division; interphase of mitotic cell cycle | 11q12.1 |
| CDCA7 | regulation of transcription, DNA-dependent; regulation of cell proliferation | 2q31 |
| CDCA7L | positive regulation of cell proliferation; regulation of transcription, DNA-dependent | 7p15.3 |
| CDCA8 | mitotic cell cycle; cell division; M phase of mitotic cell cycle; mitotic metaphase; mitotic prometaphase; chromosome organization | 1p34.3 |
| CDCP1 | - | 3p21.31 |
| CDCP2 | - | 1p32.3 |
| CDH1 | apoptotic process; cellular response to lithium ion; cellular response to indole-3-methanol; cellular component disassembly involved in apoptosis; cell adhesion; homophilic cell adhesion; synapse assembly; response to toxin; response to organic substance; cell-cell adhesion; pituitary gland development; neuron projection development; cell junction assembly; adherens junction organization; response to drug; positive regulation of transcription factor import into nucleus; cell-cell junction organization; positive regulation of transcription, DNA-dependent; regulation of immune response; negative regulation of cell-cell adhesion | 16q22.1 |
| CDH10 | cell-cell junction organization; homophilic cell adhesion; cell-cell adhesion; cell junction assembly; adherens junction organization | 5p14.2 |
| CDH11 | cell-cell junction organization; adherens junction organization; cell junction assembly; cell-cell adhesion; homophilic cell adhesion; cell adhesion; ossification; skeletal system development | 16q21 |
| CDH12 | cell-cell junction organization; adherens junction organization; cell junction assembly; cell-cell adhesion; homophilic cell adhesion | 5p14.3 |
| CDH12P4 | - | 5q13.2 |
| CDH13 | positive regulation of cell migration; regulation of endocytosis; cell junction assembly; positive regulation of endothelial cell proliferation; positive regulation of cell-matrix adhesion; sprouting angiogenesis; homophilic cell adhesion; negative regulation of cell adhesion; Rho protein signal transduction; negative regulation of cell proliferation; calcium-dependent cell-cell adhesion; Rac protein signal transduction; lamellipodium assembly; regulation of epidermal growth factor receptor signaling pathway; endothelial cell migration; keratinocyte proliferation; cell-cell junction organization; positive regulation of survival gene product expression; positive regulation of smooth muscle cell proliferation; positive regulation of calcium-mediated signaling; positive regulation of positive chemotaxis; localization within membrane; low-density lipoprotein particle mediated signaling; adherens junction organization | 16q23.3 |
| CDH15 | muscle cell differentiation; positive regulation of muscle cell differentiation; cell-cell junction organization; cell junction assembly; homophilic cell adhesion; cell adhesion; adherens junction organization | 16q24.3 |
| CDH16 | cell adhesion; homophilic cell adhesion | 16q22.1 |
| CDH17 | homophilic cell adhesion; oligopeptide transmembrane transport; calcium-dependent cell-cell adhesion; cell adhesion; transport | 8q22.1 |
| CDH18 | cell adhesion; homophilic cell adhesion; cell junction assembly; adherens junction organization; cell-cell junction organization | 5p14.3 |
| CDH19 | cell-cell adhesion; homophilic cell adhesion; cell adhesion | 18q22.1 |
| CDH2 | regulation of axonogenesis; adherens junction organization; cell junction assembly; regulation of protein localization; regulation of myelination; cell migration; calcium-dependent cell-cell adhesion; synapse assembly; heterophilic cell-cell adhesion; homophilic cell adhesion; cell adhesion; regulation of Rho protein signal transduction; muscle cell differentiation; positive regulation of MAPK cascade; cell-cell junction organization; blood vessel morphogenesis; striated muscle cell differentiation; positive regulation of muscle cell differentiation; negative regulation of canonical Wnt receptor signaling pathway | 18q11.2 |
| CDH20 | homophilic cell adhesion; cell-cell adhesion | 18q21.33 |
| CDH22 | homophilic cell adhesion; cell adhesion | 20q13.1 |
| CDH23 | auditory receptor cell stereocilium organization; inner ear morphogenesis; calcium ion transport; sensory perception of light stimulus; response to stimulus; post-embryonic organ morphogenesis; cell adhesion; equilibrioception; cytosolic calcium ion homeostasis; photoreceptor cell maintenance; auditory receptor cell differentiation; homophilic cell adhesion; sensory perception of sound; righting reflex; adult locomotory behavior; calcium-dependent cell-cell adhesion | 10q22.1 |
| CDH24 | cell junction assembly; cell-cell adhesion; homophilic cell adhesion; adherens junction organization; cell-cell junction organization | 14q11.2 |
| CDH26 | cell adhesion; homophilic cell adhesion | 20q13.33 |
| CDH3 | adherens junction organization; cell adhesion; cell-cell junction organization; response to stimulus; homophilic cell adhesion; visual perception; cell junction assembly | 16q22.1 |
| CDH4 | cell adhesion; homophilic cell adhesion; heterophilic cell-cell adhesion; axon guidance; cell-cell junction organization; cell junction assembly; adherens junction organization; positive regulation of axon extension | 20q13.3 |
| CDH5 | blood vessel maturation; cell adhesion; homophilic cell adhesion; negative regulation of cell proliferation; cell junction assembly; adherens junction organization; cell-cell junction organization; regulation of establishment of cell polarity | 16q22.1 |
| CDH6 | cell junction assembly; cell-cell junction organization; adherens junction organization; homophilic cell adhesion; cell adhesion | 5p13.3 |
| CDH7 | homophilic cell adhesion; cell-cell adhesion; cell junction assembly; adherens junction organization; cell-cell junction organization | 18q22.1 |
| CDH8 | cell adhesion; homophilic cell adhesion; cell junction assembly; adherens junction organization; cell-cell junction organization | 16q22.1 |
| CDH9 | cell-cell junction organization; adherens junction organization; cell junction assembly; cell-cell adhesion; homophilic cell adhesion | 5p14 |
| CDHR1 | photoreceptor cell maintenance; homophilic cell adhesion; cell adhesion | 10q23.1 |
| CDHR2 | cell adhesion; homophilic cell adhesion; negative regulation of cell growth | 5q35.2 |
| CDHR3 | homophilic cell adhesion; cell adhesion | 7q22.3 |
| CDHR4 | homophilic cell adhesion; cell adhesion | 3p21.31 |
| CDHR5 | calcium-dependent cell-cell adhesion; cell adhesion; homophilic cell adhesion | 11p15.5 |
| CDIP1 | - | 16p13.3 |
| CDIPT | phosphatidylinositol biosynthetic process; phospholipid biosynthetic process; CDP-diacylglycerol metabolic process | 16p11.2 |
| CDIPT-AS1 | - | 16p11.2 |
| CDK1 | response to drug; positive regulation of gene expression; protein localization to kinetochore; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; positive regulation of protein import into nucleus, translocation; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; organ regeneration; chromosome condensation; cell migration; response to activity; response to amine stimulus; response to organic cyclic compound; regulation of Schwann cell differentiation; TRIF-dependent toll-like receptor signaling pathway; innate immune response; response to ethanol; positive regulation of DNA replication; positive regulation of mitotic cell cycle; regulation of embryonic development; response to cadmium ion; response to copper ion; nerve growth factor receptor signaling pathway; response to axon injury; cell division; stress-activated MAPK cascade; positive regulation of ubiqu | 10q21.1 |
| CDK10 | negative regulation of cell proliferation; traversing start control point of mitotic cell cycle | 16q24 |
| CDK11A | regulation of mRNA processing; mitosis; cell division; regulation of mitosis; apoptotic process; protein phosphorylation; regulation of transcription, DNA-dependent; regulation of cell growth; blastocyst development | 1p36.33 |
| CDK12 | mRNA processing; regulation of MAP kinase activity; phosphorylation of RNA polymerase II C-terminal domain; protein autophosphorylation; RNA splicing | 17q12 |
| CDK13 | phosphorylation of RNA polymerase II C-terminal domain; hemopoiesis; interspecies interaction between organisms; positive regulation of cell proliferation; multicellular organismal development; regulation of mitosis; protein phosphorylation; mRNA processing; alternative nuclear mRNA splicing, via spliceosome; RNA splicing | 7p13 |
| CDK14 | regulation of canonical Wnt receptor signaling pathway; cell division; Wnt receptor signaling pathway; G2/M transition of mitotic cell cycle; cell cycle | 7q21-q22 |
| CDK15 | - | 2q33.2 |
| CDK16 | protein phosphorylation | Xp11 |
| CDK17 | protein phosphorylation | 12q23.1 |
| CDK18 | signal transduction; protein phosphorylation | 1q31-q32 |
| CDK19 | cell division | 6q21 |
| CDK2 | potassium ion transport; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; histone phosphorylation; phosphorylation; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; G2 phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; M/G1 transition of mitotic cell cycle; mitotic cell cycle; DNA replication; regulation of DNA replication; DNA repair; protein phosphorylation; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; cell cycle; mitosis; traversing start control point of mitotic cell cycle; meiosis; Ras protein signal transduction; cell division; blood coagulation; positive regulation of cell proliferation; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; centrosome duplication; positive regulation of transcription, DNA-dependent; mitotic cell cycle G1/S transition DNA damage checkpoint; regulation of gene silencing; cellular response t | 12q13 |
| CDK20 | cell division; multicellular organismal development | 9q22.1 |
| CDK2AP1 | S phase of mitotic cell cycle; DNA-dependent DNA replication; protein phosphorylation; cell cycle | 12q24.31 |
| CDK2AP2 | - | 11q13 |
| CDK2AP2P1 | - | 9p11.2 |
| CDK3 | G1/S transition of mitotic cell cycle; mitosis; cell proliferation; G0 to G1 transition; cell division | 17q25.1 |
| CDK4 | positive regulation of fibroblast proliferation; regulation of cell cycle; cell division; response to drug; regulation of gene expression; positive regulation of cell proliferation; signal transduction; protein phosphorylation; mitotic cell cycle; S phase of mitotic cell cycle; cell cycle; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle | 12q14 |
| CDK4PS | - | 1p21.1 |
| CDK5 | negative regulation of transcription, DNA-dependent; positive regulation of protein kinase activity; negative regulation of cell cycle; regulated secretory pathway; positive regulation of neuron apoptosis; receptor clustering; regulation of apoptotic process; synaptic transmission, glutamatergic; serine phosphorylation of STAT3 protein; receptor catabolic process; negative regulation of synaptic plasticity; negative regulation of protein ubiquitination; neuron projection development; cortical actin cytoskeleton organization; central nervous system neuron development; regulation of cell migration; positive regulation of calcium ion-dependent exocytosis; protein autophosphorylation; negative regulation of protein export from nucleus; behavioral response to cocaine; regulation of synaptic plasticity; synaptic vesicle endocytosis; axon extension; oligodendrocyte differentiation; dendrite morphogenesis; cell division; neuron apoptosis; regulation of excitatory postsynaptic membrane potential; regulation of dendrit | 7q36 |
| CDK5R1 | negative regulation of transcription, DNA-dependent; regulation of neuron differentiation; positive regulation of neuron apoptosis; ionotropic glutamate receptor signaling pathway; regulation of actin cytoskeleton organization; ephrin receptor signaling pathway; regulation of dendritic spine morphogenesis; neuron migration; regulation of microtubule cytoskeleton organization; neuron projection development; neuron differentiation; cerebral cortex radially oriented cell migration; peptidyl-threonine phosphorylation; peptidyl-serine phosphorylation; phosphorylation; embryo development; cell proliferation; brain development; axonal fasciculation; axon guidance; G-protein coupled acetylcholine receptor signaling pathway; protein phosphorylation; regulation of cyclin-dependent protein kinase activity; neuron cell-cell adhesion; positive regulation of protein serine/threonine kinase activity | 17q11.2 |
| CDK5R2 | regulation of cyclin-dependent protein kinase activity | 2q35 |
| CDK5RAP1 | negative regulation of cyclin-dependent protein kinase activity; tRNA modification; brain development; RNA modification; regulation of neuron differentiation | 20q11.21 |
| CDK5RAP2 | microtubule bundle formation; regulation of spindle checkpoint; centrosome organization; chromosome segregation; negative regulation of centriole replication; positive regulation of transcription, DNA-dependent; negative regulation of neuron differentiation; G2/M transition of mitotic cell cycle; regulation of neuron differentiation; establishment of mitotic spindle orientation; neurogenesis; brain development; microtubule cytoskeleton organization; mitotic cell cycle | 9q33.2 |
| CDK5RAP3 | regulation of neuron differentiation; brain development; regulation of cyclin-dependent protein kinase activity | 17q21.32 |
| CDK6 | hemopoiesis; lateral ventricle development; dentate gyrus development; astrocyte development; regulation of gene expression; response to virus; negative regulation of cell proliferation; cell cycle arrest; cell cycle; protein phosphorylation; type B pancreatic cell development; positive regulation of cell-matrix adhesion; mitotic cell cycle; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; regulation of erythrocyte differentiation; cell dedifferentiation; gliogenesis; negative regulation of cellular senescence; regulation of cell motility; cell division; negative regulation of epithelial cell proliferation; generation of neurons; negative regulation of cell cycle; negative regulation of osteoblast differentiation; negative regulation of myeloid cell differentiation; negative regulation of cell differentiation; positive regulation of fibroblast proliferation | 7q21-q22 |
| CDK7 | transcription from RNA polymerase II promoter; mRNA capping; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; protein phosphorylation; cell cycle arrest; cell proliferation; gene expression; viral reproduction; androgen receptor signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of viral transcription; cell division; transcription elongation from RNA polymerase I promoter; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; mitotic cell cycle; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; termination of RNA polymerase I transcription; nucleotide-ex | 5q12.1 |
| CDK8 | gene expression; protein phosphorylation; regulation of transcription, DNA-dependent | 13q12 |
| CDK9 | regulation of DNA repair; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; protein phosphorylation; cell cycle; gene expression; viral reproduction; regulation of histone modification; replication fork arrest; positive regulation of viral transcription; negative regulation of cell cycle arrest; cellular response to cytokine stimulus; cell proliferation | 9q34.1 |
| CDKAL1 | RNA modification | 6p22.3 |
| CDKL1 | protein phosphorylation; cell cycle; heart development | 14q21.3 |
| CDKL2 | protein phosphorylation; signal transduction; sex differentiation | 4q21.1 |
| CDKL3 | protein modification process; protein phosphorylation | 5q31 |
| CDKL4 | - | 2p22.1 |
| CDKL5 | neuron migration; protein phosphorylation; positive regulation of Rac GTPase activity; positive regulation of axon extension; positive regulation of dendrite morphogenesis; regulation of dendrite development; protein autophosphorylation | Xp22 |
| CDKN1A | positive regulation of programmed cell death; negative regulation of cell growth; negative regulation of apoptotic process; response to drug; negative regulation of phosphorylation; regulation of protein import into nucleus, translocation; cellular response to extracellular stimulus; organ regeneration; positive regulation of B cell proliferation; response to organic nitrogen; negative regulation of cyclin-dependent protein kinase activity; positive regulation of anti-apoptosis; response to arsenic-containing substance; positive regulation of fibroblast proliferation; response to corticosterone stimulus; response to hyperoxia; cellular response to ionizing radiation; cellular senescence; stress-induced premature senescence; regulation of DNA biosynthetic process; positive regulation of reactive oxygen species metabolic process; response to organic cyclic compound; cell cycle checkpoint; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycl | 6p21.2 |
| CDKN1B | negative regulation of kinase activity; phosphatidylinositol-mediated signaling; negative regulation of cell growth; positive regulation of microtubule polymerization; negative regulation of phosphorylation; negative regulation of apoptotic process; positive regulation of protein catabolic process; negative regulation of cyclin-dependent protein kinase activity; negative regulation of transcription, DNA-dependent; negative regulation of mitotic cell cycle; nerve growth factor receptor signaling pathway; cell cycle checkpoint; autophagic cell death; inner ear development; negative regulation of cellular component movement; negative regulation of epithelial cell proliferation involved in prostate gland development; cellular response to antibiotic; cellular response to lithium ion; cellular response to organic cyclic compound; mitotic cell cycle arrest; positive regulation of cell death; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; | 12p13.1-p12 |
| CDKN1C | neuron maturation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; negative regulation of epithelial cell proliferation; negative regulation of phosphorylation; negative regulation of kinase activity; positive regulation of transforming growth factor beta receptor signaling pathway; cell cycle arrest; cell cycle; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cell proliferation | 11p15.5 |
| CDKN2A | negative regulation of B cell proliferation; protein destabilization; negative regulation of cell growth; regulation of G2/M transition of mitotic cell cycle; apoptotic mitochondrial changes; negative regulation of cell proliferation; Ras protein signal transduction; cell cycle arrest; cell cycle; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; negative regulation of protein kinase activity; rRNA processing; DNA fragmentation involved in apoptotic nuclear change; negative regulation of cell-matrix adhesion; mitotic cell cycle; protein polyubiquitination; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; cell cycle checkpoint; negative regulation of NF-kappaB transcription factor activity; positive regulation of cellular senescence; positive regulation of macrophage apoptosis; replicative senescence; cellular senescence; positive regulation of cell cycle arrest; protein K63-linked ubiquitination; negative regulation of ubiquitin-pro | 9p21 |
| CDKN2A-AS1 | - | 9p21.3 |
| CDKN2AIP | positive regulation of signal transduction; negative regulation of cell growth; regulation of protein stability | 4q35.1 |
| CDKN2AIPNL | - | 5q31.1 |
| CDKN2AIPNLP1 | - | 1q42.12 |
| CDKN2AIPNLP2 | - | 2p23.3 |
| CDKN2AIPNLP3 | - | - |
| CDKN2B | mitotic cell cycle G1/S transition checkpoint; G1 phase of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; negative regulation of epithelial cell proliferation; negative regulation of phosphorylation; response to cytokine stimulus; cellular response to nutrient; cellular response to extracellular stimulus; positive regulation of epithelial cell differentiation; megakaryocyte differentiation; response to organic cyclic compound; negative regulation of cell proliferation; cell cycle arrest; mitotic cell cycle; G2/M transition of mitotic cell cycle; positive regulation of transforming growth factor beta receptor signaling pathway | 9p21 |
| CDKN2B-AS1 | - | 9p21.3 |
| CDKN2C | mitotic cell cycle; oligodendrocyte differentiation; negative regulation of phosphorylation; negative regulation of cell growth; negative regulation of cell proliferation; cell cycle arrest; induction of apoptosis; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity | 1p32 |
| CDKN2D | cell cycle arrest; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; mitotic cell cycle; autophagic cell death; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of phosphorylation; response to vitamin D; response to retinoic acid; negative regulation of cell growth; response to UV; negative regulation of cell proliferation; anti-apoptosis; DNA synthesis involved in DNA repair; G1/S transition of mitotic cell cycle | 19p13 |
| CDKN3 | regulation of cyclin-dependent protein kinase activity; G1/S transition of mitotic cell cycle; cell cycle; cell cycle arrest; negative regulation of cell proliferation; peptidyl-tyrosine dephosphorylation | 14q22 |
| CDNF | - | 10p13 |
| CDO1 | response to amino acid stimulus; oxidation-reduction process; inflammatory response; cysteine metabolic process; sulfur amino acid catabolic process; sulfur amino acid biosynthetic process; sulfur amino acid metabolic process; response to cAMP; response to glucocorticoid stimulus; response to ethanol; small molecule metabolic process; taurine biosynthetic process; cellular nitrogen compound metabolic process; response to glucagon stimulus; L-cysteine catabolic process; response to organic nitrogen; lactation | 5q23.2 |
| CDON | positive regulation of muscle cell differentiation; muscle cell differentiation; cell adhesion | 11q24.2 |
| CDPF1 | - | 22q13.31 |
| CDR1 | - | Xq27.1 |
| CDR2 | - | 16p12.3 |
| CDR2L | - | 17q25.1 |
| CDRT1 | - | 17p12 |
| CDRT15 | - | 17p12 |
| CDRT15L2 | - | 17p11.2 |
| CDRT15P1 | - | 17p12 |
| CDRT4 | - | 17p12 |
| CDRT8 | - | 17p12 |
| CDS1 | CDP-choline pathway; phosphatidylinositol biosynthetic process; signal transduction; phototransduction; phospholipid biosynthetic process; CDP-diacylglycerol biosynthetic process | 4q21.23 |
| CDS2 | phospholipid biosynthetic process | 20p13 |
| CDSN | cell-cell adhesion; cell adhesion; epidermis development; skin morphogenesis; keratinocyte differentiation | 6p21.3 |
| CDT1 | DNA replication checkpoint; M/G1 transition of mitotic cell cycle; G1/S transition of mitotic cell cycle; regulation of DNA-dependent DNA replication initiation; regulation of S phase of mitotic cell cycle; DNA replication; mitotic cell cycle; S phase of mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle | 16q24.3 |
| CDV3 | cell proliferation | 3q22.1 |
| CDV3P1 | - | 3q11.2 |
| CDX1 | organ morphogenesis; anterior/posterior pattern specification; positive regulation of transcription from RNA polymerase II promoter; bone morphogenesis; pattern specification process | 5q32 |
| CDX2 | organ morphogenesis; pattern specification process; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; placenta development; trophectodermal cell differentiation; blastocyst development; blood vessel development; negative regulation of transcription from RNA polymerase II promoter; somatic stem cell maintenance; positive regulation of cell differentiation; anterior/posterior pattern specification; labyrinthine layer development | 13q12.3 |
| CDY1 | - | Yq11.23 |
| CDY3P | - | Yp11.2 |
| CDYL | spermatogenesis; regulation of transcription, DNA-dependent | 6p25.1 |
| CDYL2 | - | 16q23.2 |
| CEACAM1 | cell migration; integrin-mediated signaling pathway; homophilic cell adhesion; angiogenesis | 19q13.2 |
| CEACAM18 | - | 19q13.41 |
| CEACAM19 | - | 19q13.31 |
| CEACAM20 | - | 19q13.31 |
| CEACAM21 | - | 19q13.2 |
| CEACAM22P | - | 19q13.31 |
| CEACAM3 | - | 19q13.2 |
| CEACAM4 | - | 19q13.2 |
| CEACAM5 | - | 19q13.1-q13.2 |
| CEACAM6 | cell-cell signaling; signal transduction | 19q13.2 |
| CEACAM7 | - | 19q13.2 |
| CEACAM8 | immune response | 19q13.2 |
| CEACAMP10 | - | 19q13.2 |
| CEACAMP11 | - | 19q13.2 |
| CEACAMP2 | - | 19q13.2 |
| CEACAMP5 | - | 19q13.2 |
| CEACAMP6 | - | 19q13.2 |
| CEACAMP7 | - | 19q13.2 |
| CEACAMP8 | - | 19q13.2 |
| CEACAMP9 | - | 19q13.2 |
| CEBPA | mitochondrion organization; regulation of transcription, DNA-dependent; acute-phase response; transcription from RNA polymerase II promoter; response to vitamin B2; response to nutrient; cholesterol metabolic process; negative regulation of cell proliferation; cytokine-mediated signaling pathway; myeloid cell differentiation; macrophage differentiation; lung development; organ regeneration; positive regulation of transcription from RNA polymerase II promoter; positive regulation of osteoblast differentiation; positive regulation of fat cell differentiation; interspecies interaction between organisms; generation of precursor metabolites and energy; cellular response to organic cyclic compound; cellular response to lithium ion; response to glucocorticoid stimulus; brown fat cell differentiation; white fat cell differentiation; cell maturation; positive regulation of transcription from RNA polymerase III promoter; urea cycle; negative regulation of transcription from RNA polymerase II promoter; liver development | 19q13.1 |
| CEBPA-AS1 | - | 19q13.11 |
| CEBPB | brown fat cell differentiation; mammary gland epithelial cell differentiation; mammary gland epithelial cell proliferation; regulation of interleukin-6 biosynthetic process; positive regulation of osteoblast differentiation; negative regulation of transcription, DNA-dependent; response to lipopolysaccharide; neuron differentiation; immune response; inflammatory response; acute-phase response; induction of apoptosis; anti-apoptosis; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; embryonic placenta development; cellular response to amino acid stimulus | 20q13.1 |
| CEBPD | transcription from RNA polymerase II promoter | 8p11.2-p11.1 |
| CEBPE | phagocytosis; defense response; myeloid cell differentiation; macrophage differentiation; cytokine biosynthetic process; defense response to bacterium; cellular response to lipopolysaccharide | 14q11.2 |
| CEBPG | B cell differentiation; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of DNA repair; positive regulation of interferon-gamma biosynthetic process; negative regulation of sequence-specific DNA binding transcription factor activity; positive regulation of DNA binding; enucleate erythrocyte differentiation; natural killer cell mediated cytotoxicity; mRNA metabolic process; immune response; regulation of transcription from RNA polymerase II promoter; liver development | 19q13.11 |
| CEBPZ | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 2p22.2 |
| CEBPZOS | - | 2p22 |
| CECR1 | hypoxanthine salvage; inosine biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; multicellular organismal development; adenosine catabolic process | 22q11.2 |
| CECR2 | vesicle-mediated transport; cytokinesis; chromatin modification; DNA fragmentation involved in apoptotic nuclear change; apoptotic process; cytoskeleton organization | 22q11.2 |
| CECR5 | metabolic process | - |
| CECR5-AS1 | - | 22q11.1 |
| CECR6 | - | - |
| CECR7 | - | 22q11.1 |
| CEL | lipid catabolic process; ceramide catabolic process; small molecule metabolic process; intestinal lipid catabolic process; lipid digestion; intestinal cholesterol absorption; pancreatic juice secretion; protein esterification; fatty acid catabolic process; cholesterol catabolic process; triglyceride metabolic process; lipid metabolic process | 9q34.3 |
| CELA1 | post-embryonic development; exocrine pancreas development; multicellular organism growth; negative regulation of transcription from RNA polymerase II promoter; proteolysis; regulation of cell proliferation; regulation of cell differentiation; positive regulation of transcription from RNA polymerase II promoter; pancreas morphogenesis; inflammatory response; Wnt receptor signaling pathway | 12q13 |
| CELA2A | proteolysis | 1p36.21 |
| CELA3A | proteolysis; digestion; cholesterol metabolic process | 1p36.12 |
| CELF1 | mRNA processing; mRNA splice site selection; germ cell development; embryo development; RNA interference; regulation of RNA splicing | 11p11 |
| CELF2 | regulation of heart contraction; mRNA processing; RNA processing | 10p13 |
| CELF2-AS1 | - | 10p14 |
| CELF2-AS2 | - | 10p14 |
| CELF3 | nuclear mRNA splicing, via spliceosome; spermatogenesis; RNA splicing; sperm motility; positive regulation of nuclear mRNA splicing, via spliceosome; regulation of alternative nuclear mRNA splicing, via spliceosome | 1q21 |
| CELF4 | mRNA processing; positive regulation of nuclear mRNA splicing, via spliceosome; embryo development; RNA splicing; germ cell development; regulation of alternative nuclear mRNA splicing, via spliceosome | 18q12 |
| CELF5 | mRNA processing | 19p13 |
| CELF6 | mRNA processing; regulation of alternative nuclear mRNA splicing, via spliceosome | 15q24 |
| CELSR1 | anterior/posterior pattern specification; orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis; establishment of body hair planar orientation; apical protein localization; inner ear morphogenesis; establishment of planar polarity of embryonic epithelium; wound healing; regulation of actin cytoskeleton organization; establishment of planar polarity; locomotory behavior; central nervous system development; multicellular organismal development; Rho protein signal transduction; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; homophilic cell adhesion; cell adhesion; hair follicle development; neural tube closure; neuron migration; lateral sprouting involved in lung morphogenesis; planar cell polarity pathway involved in neural tube closure; protein localization involved in establishment of planar polarity; planar dichotomous subdivision of terminal units involved in lung branching morphogenesis | 22q13.3 |
| CELSR2 | neuron migration; regulation of transcription, DNA-dependent; cell adhesion; homophilic cell adhesion; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; spermatogenesis; Wnt receptor signaling pathway; neural plate anterior/posterior regionalization; multicellular organismal development; regulation of cell-cell adhesion; dendrite morphogenesis | 1p21 |
| CELSR3 | axonal fasciculation; multicellular organismal development; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; homophilic cell adhesion; cell adhesion; neuron migration | 3p21.31 |
| CEMIP | - | 15q24 |
| CEND1 | - | 11p15.5 |
| CENPA | mitotic prometaphase; protein localization to chromosome, centromeric region; kinetochore assembly; interspecies interaction between organisms; CenH3-containing nucleosome assembly at centromere; nucleosome assembly; mitotic cell cycle; establishment of mitotic spindle orientation; M phase of mitotic cell cycle | 2p23.3 |
| CENPB | regulation of transcription, DNA-dependent | 20p13 |
| CENPBD1 | regulation of transcription, DNA-dependent | 16q24.3 |
| CENPBD1P1 | - | 19q13.43 |
| CENPC | - | 4q13.2 |
| CENPCP1 | - | 12q21.33 |
| CENPE | mitotic cell cycle spindle assembly checkpoint; positive regulation of attachment of spindle microtubules to kinetochore; multicellular organismal development; kinetochore assembly; cell division; regulation of developmental process; positive regulation of protein kinase activity; positive regulation of mitotic metaphase/anaphase transition; establishment of protein localization; blood coagulation; mitotic metaphase plate congression; regulation of mitosis; microtubule-based movement; mitotic cell cycle; mitotic prometaphase; mitotic metaphase; M phase of mitotic cell cycle; mitotic chromosome movement towards spindle pole | 4q24-q25 |
| CENPF | G2 phase of mitotic cell cycle; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; DNA replication; chromosome segregation; mitotic cell cycle spindle assembly checkpoint; multicellular organismal development; muscle organ development; cell proliferation; regulation of G2/M transition of mitotic cell cycle; protein transport; regulation of striated muscle tissue development; response to drug; negative regulation of transcription, DNA-dependent; cell division; metaphase plate congression; kinetochore assembly; cell differentiation | 1q41 |
| CENPH | chromosome segregation; CenH3-containing nucleosome assembly at centromere; cell division; kinetochore organization; nucleosome assembly; mitotic cell cycle; M phase of mitotic cell cycle; mitotic prometaphase | 5p15.2 |
| CENPI | nucleosome assembly; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; sex differentiation; CenH3-containing nucleosome assembly at centromere; follicle-stimulating hormone signaling pathway | Xq22.1 |
| CENPIP1 | - | - |
| CENPJ | microtubule polymerization; G2/M transition of mitotic cell cycle; mitotic cell cycle; microtubule nucleation; centriole replication; regulation of centriole replication; cell division | 13q12.12 |
| CENPK | M phase of mitotic cell cycle; CenH3-containing nucleosome assembly at centromere; nucleosome assembly; mitotic cell cycle; mitotic prometaphase | 5q12.3 |
| CENPL | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle | 1q25.1 |
| CENPM | mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 22q13.2 |
| CENPN | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; nucleosome assembly; CenH3-containing nucleosome assembly at centromere | 16q23.2 |
| CENPO | CenH3-containing nucleosome assembly at centromere; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; nucleosome assembly; chromosome segregation; cell division | 2p23.3 |
| CENPP | CenH3-containing nucleosome assembly at centromere; nucleosome assembly; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 9q22.31 |
| CENPQ | nucleosome assembly; CenH3-containing nucleosome assembly at centromere; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 6p12.3 |
| CENPT | mitotic prometaphase; M phase of mitotic cell cycle; mitotic cell cycle | 16q22.1 |
| CENPU | regulation of transcription, DNA-dependent; nucleosome assembly; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; CenH3-containing nucleosome assembly at centromere; interspecies interaction between organisms | 4q35.1 |
| CENPV | ameboidal cell migration; cell cycle; mitosis; metabolic process; centromeric heterochromatin assembly; positive regulation of cytokinesis; regulation of chromosome organization; centromere complex assembly; cell division | 17p11.2 |
| CENPVP3 | - | Xp11.22 |
| CENPW | chromosome segregation; centromeric core chromatin assembly | 6q22.32 |
| CEP104 | - | 1p36.32 |
| CEP112 | - | 17q24.1 |
| CEP120 | microtubule cytoskeleton organization; regulation of microtubule-based process; regulation of protein localization; astral microtubule organization; interkinetic nuclear migration; neurogenesis; cerebral cortex development; cell proliferation | 5q23.2 |
| CEP126 | - | 11q22.1 |
| CEP128 | - | 14q31.1 |
| CEP131 | spermatogenesis; multicellular organismal development; cell differentiation; mitotic cell cycle; G2/M transition of mitotic cell cycle | 17q25.3 |
| CEP135 | G2/M transition of mitotic cell cycle; mitotic cell cycle; centriole replication; centriole-centriole cohesion | 4q12 |
| CEP152 | G2/M transition of mitotic cell cycle; mitotic cell cycle; centrosome duplication | 15q21.1 |
| CEP162 | cell cycle; mitosis; cell division | 6q14.3 |
| CEP164 | DNA repair; G2/M transition of mitotic cell cycle; mitotic cell cycle; mitosis; cell division | 11q23.3 |
| CEP170 | - | 1q44 |
| CEP170B | - | 14q32.33 |
| CEP170P1 | - | 4q26 |
| CEP19 | - | 3q29 |
| CEP192 | G2/M transition of mitotic cell cycle; mitotic cell cycle; negative regulation of phosphatase activity; centrosome duplication; spindle assembly | 18p11.21 |
| CEP250 | G2/M transition of mitotic cell cycle; mitotic cell cycle; protein localization; centriole-centriole cohesion; regulation of centriole-centriole cohesion | 20q11.22 |
| CEP290 | mitotic cell cycle; G2/M transition of mitotic cell cycle; protein transport; cell projection organization; hindbrain development; otic vesicle formation; cilium assembly; cilium morphogenesis; pronephros development; eye photoreceptor cell development; positive regulation of transcription, DNA-dependent | 12q21.32 |
| CEP295 | - | 11q21 |
| CEP295NL | - | 17q25 |
| CEP350 | - | 1q25.2 |
| CEP41 | G2/M transition of mitotic cell cycle; protein polyglutamylation; mitotic cell cycle; cilium assembly | 7q32 |
| CEP44 | - | 4q34 |
| CEP55 | cytokinesis; cell cycle; mitosis | 10q23.33 |
| CEP57 | G2/M transition of mitotic cell cycle; fibroblast growth factor receptor signaling pathway; protein homooligomerization; mitotic cell cycle; protein import into nucleus, translocation; spermatid development | 11q21 |
| CEP57L1 | - | 6q21 |
| CEP63 | G2/M transition of mitotic cell cycle; DNA damage checkpoint; signal transduction in response to DNA damage; mitotic cell cycle; mitosis; spindle assembly; cell division | 3q22.2 |
| CEP68 | centrosome organization | 2p14 |
| CEP70 | mitotic cell cycle; G2/M transition of mitotic cell cycle | 3q22.3 |
| CEP72 | mitotic cell cycle; G2/M transition of mitotic cell cycle; spindle organization; gamma-tubulin complex localization | 5p15.33 |
| CEP76 | G2/M transition of mitotic cell cycle; regulation of centriole replication; mitotic cell cycle | 18p11.21 |
| CEP78 | mitotic cell cycle; G2/M transition of mitotic cell cycle | 9q21.2 |
| CEP83 | - | 12q22 |
| CEP83-AS1 | - | 12q22 |
| CEP85 | - | 1p36.11 |
| CEP85L | - | 6q22 |
| CEP89 | - | 19q13.11 |
| CEP95 | - | 17q23.3 |
| CEP97 | - | 3q12.3 |
| CEPT1 | phospholipid biosynthetic process; lipid metabolic process | 1p13.3 |
| CERCAM | lipopolysaccharide biosynthetic process; leukocyte cell-cell adhesion; cell adhesion; cellular component movement | 9q34.11 |
| CERK | small molecule metabolic process; sphingolipid metabolic process; ceramide metabolic process; glycosphingolipid metabolic process; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway | 22q13.31 |
| CERKL | activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; anti-apoptosis | 2q31.3 |
| CERS1 | small molecule metabolic process; sphingolipid metabolic process; brain development; lipid biosynthetic process; sphingolipid biosynthetic process; ceramide biosynthetic process | 19p12 |
| CERS2 | sphingolipid biosynthetic process; small molecule metabolic process; lipid biosynthetic process; ceramide biosynthetic process; sphingolipid metabolic process | 1q21.3 |
| CERS3 | small molecule metabolic process; sphingolipid biosynthetic process; sphingolipid metabolic process; lipid biosynthetic process | 15q26.3 |
| CERS4 | ceramide biosynthetic process; sphingolipid metabolic process; lipid biosynthetic process; sphingolipid biosynthetic process; small molecule metabolic process | 19p13.2 |
| CERS5 | sphingolipid metabolic process; lipid biosynthetic process; sphingolipid biosynthetic process; small molecule metabolic process; ceramide biosynthetic process | 12q13.12 |
| CERS6 | sphingolipid metabolic process; ceramide biosynthetic process; small molecule metabolic process; sphingolipid biosynthetic process; lipid biosynthetic process | 2q24.3 |
| CERS6-AS1 | - | 2q |
| CES1 | metabolic process; response to toxin | 16q22.2 |
| CES1P2 | - | 16q12.2 |
| CES2 | catabolic process | 16q22.1 |
| CES3 | - | 16q22.1 |
| CES4A | - | 16q22.1 |
| CES5A | - | 16q12.2 |
| CES5AP1 | - | 22q11.23 |
| CETN2 | G2/M transition of mitotic cell cycle; mitotic cell cycle; nucleotide-excision repair; mitosis; centriole replication; spermatogenesis; regulation of cytokinesis; cell division | Xq28 |
| CETN3 | cell division; centrosome cycle; mitosis; cell cycle | 5q14.3 |
| CETN4P | - | 4q27 |
| CETP | transport; reverse cholesterol transport; small molecule metabolic process; phosphatidylcholine metabolic process; lipid homeostasis; phospholipid homeostasis; triglyceride homeostasis; lipid metabolic process; cholesterol homeostasis; lipoprotein metabolic process; high-density lipoprotein particle remodeling; very-low-density lipoprotein particle remodeling; triglyceride metabolic process; lipid transport; receptor-mediated endocytosis; steroid metabolic process; cholesterol metabolic process; negative regulation of macrophage derived foam cell differentiation; regulation of cholesterol efflux; phospholipid transport; cholesterol transport; low-density lipoprotein particle remodeling | 16q21 |
| CFAP100 | - | 3q21.3 |
| CFAP126 | - | 1q23.3 |
| CFAP157 | - | 9q34.11 |
| CFAP161 | - | 15q25.1 |
| CFAP20 | multicellular organismal development | 16q21 |
| CFAP206 | - | 6q15 |
| CFAP221 | - | 2q14.2 |
| CFAP36 | - | 2p16.1 |
| CFAP43 | - | 10q25.1 |
| CFAP44 | - | 3q13.2 |
| CFAP45 | - | 1q22 |
| CFAP46 | - | 10q26.3 |
| CFAP47 | - | Xp21.1 |
| CFAP52 | - | 17p13.1 |
| CFAP53 | - | 18q21.1 |
| CFAP57 | - | 1p34.2 |
| CFAP58 | - | 10q25.1 |
| CFAP61 | - | 20p11.23 |
| CFAP65 | - | 2q35 |
| CFAP69 | - | 7q21.13 |
| CFAP70 | - | 10q22.2 |
| CFAP74 | - | 1p36.33 |
| CFAP97 | - | 4q35.1 |
| CFAP99 | - | 4p16.3 |
| CFB | proteolysis; complement activation; innate immune response; complement activation, alternative pathway | 6p21.3 |
| CFD | platelet degranulation; proteolysis; complement activation; complement activation, alternative pathway; Notch signaling pathway; blood coagulation; platelet activation; innate immune response | 19p13.3 |
| CFDP1 | cell adhesion; multicellular organismal development; regulation of cell shape; anti-apoptosis; regulation of cell proliferation | 16q22.2-q22.3 |
| CFH | complement activation, alternative pathway; complement activation | 1q32 |
| CFHR1 | complement activation | 1q32 |
| CFHR3 | - | 1q32 |
| CFHR4 | lipid transport | 1q32 |
| CFHR5 | complement activation, alternative pathway | 1q31.3 |
| CFI | innate immune response; complement activation, classical pathway; proteolysis | 4q25 |
| CFL1 | actin cytoskeleton organization; regulation of cell morphogenesis; response to virus; blood coagulation; axon guidance; Rho protein signal transduction; cytoskeleton organization; anti-apoptosis; platelet degranulation; platelet activation | 11q13 |
| CFL1P1 | - | 10q23.31 |
| CFL1P2 | - | 1p32.3 |
| CFL1P3 | - | 1p31.3 |
| CFL1P5 | - | 5q13.2 |
| CFL1P6 | - | 1p36.22 |
| CFL1P8 | - | - |
| CFL2 | - | 14q12 |
| CFLAR | proteolysis; anti-apoptosis; induction of apoptosis by extracellular signals; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; interspecies interaction between organisms; negative regulation of extrinsic apoptotic signaling pathway | 2q33-q34 |
| CFLAR-AS1 | - | 2q33 |
| CFP | immune response; complement activation; complement activation, alternative pathway; defense response to bacterium; innate immune response | Xp11.4 |
| CFTR | positive regulation of vasodilation; transport; transmembrane transport; response to estrogen stimulus; response to peptide hormone stimulus; response to drug; response to cytokine stimulus; cellular response to hormone stimulus; lung development; transepithelial chloride transport; cholesterol transport; iodide transport; bicarbonate transport; respiratory gaseous exchange; water transport; chloride transport; ion transport; cholesterol biosynthetic process | 7q31.2 |
| CFTRP1 | - | 20p11.1 |
| CGA | thyroid gland development; thyroid hormone generation; signal transduction; cell-cell signaling; gonad development; peptide hormone processing; luteinizing hormone secretion; cellular response to hormone stimulus; cellular nitrogen compound metabolic process; small molecule metabolic process; negative regulation of organ growth; follicle-stimulating hormone secretion; developmental growth | 6q12-q21 |
| CGB1 | - | 19q13.32 |
| CGB2 | - | 19q13.32 |
| CGB7 | - | 19q13.32 |
| CGGBP1 | regulation of transcription, DNA-dependent | 3p12-p11.1 |
| CGN | - | 1q21 |
| CGNL1 | - | 15q21.3 |
| CGREF1 | negative regulation of cell proliferation; cell adhesion; cell cycle arrest; cell cycle; response to stress | 2p23.3 |
| CGRRF1 | negative regulation of cell proliferation; negative regulation of cell growth; response to stress; cell cycle; cell cycle arrest | 14q22.2 |
| CH25H | fatty acid biosynthetic process; bile acid biosynthetic process; cholesterol metabolic process; bile acid metabolic process; sterol biosynthetic process; small molecule metabolic process; lipid metabolic process | 10q23 |
| CHAC1 | apoptosis in response to endoplasmic reticulum stress; response to unfolded protein | 15q15.1 |
| CHAC2 | - | 2p16 |
| CHAD | regulation of cell growth | 17q21.33 |
| CHADL | - | 22q13.2 |
| CHAF1A | cell cycle; protein complex assembly; regulation of transcription, DNA-dependent; DNA replication-dependent nucleosome assembly; chromatin assembly; DNA repair; DNA replication | 19p13.3 |
| CHAF1B | DNA replication-dependent nucleosome assembly; DNA repair; DNA replication; regulation of transcription, DNA-dependent; protein complex assembly; cell cycle; chromatin assembly | 21q22.13 |
| CHAMP1 | sister chromatid biorientation; attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation; protein localization to microtubule; protein localization to kinetochore | 13q34 |
| CHAT | response to nutrient; rhythmic excitation; response to drug; neuron differentiation; dendrite development; acetylcholine biosynthetic process; adult walking behavior; rhythmic behavior; memory; establishment of synaptic specificity at neuromuscular junction; muscle organ development; neuromuscular synaptic transmission; neurotransmitter secretion; synaptic transmission; response to ethanol; response to hypoxia; antral ovarian follicle growth | 10q11.2 |
| CHCHD1 | - | 10q22.2 |
| CHCHD10 | - | 22q11.23 |
| CHCHD2 | - | 7p11.2 |
| CHCHD2P10 | - | 8q11.23 |
| CHCHD2P4 | - | - |
| CHCHD2P5 | - | - |
| CHCHD2P6 | - | 1p36.21 |
| CHCHD2P7 | - | - |
| CHCHD2P8 | - | 13q12.2 |
| CHCHD2P9 | - | 9q21.31 |
| CHCHD3 | mitochondrial fusion; inner mitochondrial membrane organization | 7q33 |
| CHCHD3P1 | - | 10p14 |
| CHCHD3P3 | - | 1p36.11 |
| CHCHD4 | protein transport | 3p25.1 |
| CHCHD4P4 | - | 3p25.3 |
| CHCHD5 | - | 2q13 |
| CHCHD6 | - | 3q21.3 |
| CHCHD7 | - | 8q12.1 |
| CHD1 | chromatin remodeling; regulation of transcription from RNA polymerase II promoter | 5q15-q21 |
| CHD1L | chromatin remodeling; response to DNA damage stimulus; ATP catabolic process; DNA repair | 1q12 |
| CHD2 | regulation of transcription from RNA polymerase II promoter | 15q26 |
| CHD3 | regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; spindle organization; chromatin modification; centrosome organization | 17p13.1 |
| CHD4 | regulation of transcription from RNA polymerase II promoter; chromatin modification | 12p13 |
| CHD5 | chromatin modification; regulation of transcription, DNA-dependent | 1p36.31 |
| CHD6 | regulation of transcription, DNA-dependent; chromatin remodeling; nervous system development | 20q12 |
| CHD7 | retina development in camera-type eye; regulation of growth hormone secretion; face development; skeletal system development; blood vessel development; in utero embryonic development; heart morphogenesis; palate development; limb development; cognition; central nervous system development; genitalia development; semicircular canal morphogenesis; nose development; regulation of transcription, DNA-dependent; artery morphogenesis; inner ear morphogenesis; positive regulation of multicellular organism growth; embryonic hindlimb morphogenesis; female genitalia development; T cell differentiation; cranial nerve development; adult heart development; sensory perception of sound; locomotory behavior; adult walking behavior; blood circulation; chromatin modification | 8q12.2 |
| CHD8 | DNA duplex unwinding; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; ATP-dependent chromatin remodeling; positive regulation of transcription from RNA polymerase III promoter; canonical Wnt receptor signaling pathway; positive regulation of transcription, DNA-dependent; in utero embryonic development; chromatin modification; negative regulation of Wnt receptor signaling pathway; negative regulation of apoptotic process | 14q11.2 |
| CHD9 | small molecule metabolic process; cellular lipid metabolic process; chromatin modification; regulation of transcription, DNA-dependent | 16q12.2 |
| CHDH | alcohol metabolic process | 3p21.1 |
| CHEK1 | replicative senescence; DNA damage checkpoint; regulation of histone H3-K9 acetylation; cellular response to caffeine; cellular response to organic substance; cellular response to mechanical stimulus; chromatin-mediated maintenance of transcription; regulation of mitotic centrosome separation; negative regulation of mitosis; histone H3-T11 phosphorylation; regulation of S phase; G2/M transition DNA damage checkpoint; peptidyl-threonine phosphorylation; regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage; regulation of double-strand break repair via homologous recombination; cell cycle; DNA damage induced protein phosphorylation; response to DNA damage stimulus; DNA repair; DNA replication; G2/M transition of mitotic cell cycle; cell cycle checkpoint | 11q24.2 |
| CHEK2 | response to gamma radiation; DNA damage response, signal transduction resulting in induction of apoptosis; double-strand break repair; regulation of protein catabolic process; signal transduction in response to DNA damage; cellular protein catabolic process; positive regulation of transcription, DNA-dependent; protein autophosphorylation; cell division; signal transduction involved in intra-S DNA damage checkpoint; spindle assembly involved in mitosis; replicative senescence; DNA damage induced protein phosphorylation; cell cycle checkpoint; DNA damage checkpoint; G2/M transition of mitotic cell cycle; regulation of transcription, DNA-dependent; apoptotic process; response to DNA damage stimulus; cell cycle | 22q12.1 |
| CHEK2P1 | - | Yq11.21 |
| CHERP | positive regulation of NFAT protein import into nucleus; release of sequestered calcium ion into cytosol; negative regulation of cell proliferation; nervous system development; cellular calcium ion homeostasis; RNA processing | 19p13.1 |
| CHFR | mitosis; cell cycle; protein polyubiquitination; mitotic cell cycle checkpoint; modification-dependent protein catabolic process; cell division | 12q24.33 |
| CHGA | regulation of blood pressure | 14q32 |
| CHGB | - | 20pter-p12 |
| CHI3L1 | positive regulation of peptidyl-threonine phosphorylation; positive regulation of protein kinase B signaling cascade; interleukin-8 secretion; cellular response to tumor necrosis factor; cartilage development; positive regulation of angiogenesis; response to tumor necrosis factor; lung development; response to mechanical stimulus; activation of NF-kappaB-inducing kinase activity; inflammatory response; carbohydrate metabolic process; cellular response to interleukin-1; response to interleukin-6; response to interleukin-1; positive regulation of ERK1 and ERK2 cascade; chitin catabolic process | 1q32.1 |
| CHI3L2 | carbohydrate metabolic process; chitin catabolic process | 1p13.3 |
| CHIA | digestion; production of molecular mediator involved in inflammatory response; response to fungus; positive regulation of chemokine secretion; chitin metabolic process; carbohydrate metabolic process; chitin catabolic process; cell wall chitin metabolic process; apoptotic process; response to acid; polysaccharide catabolic process; immune response | 1p13.2 |
| CHIAP1 | - | - |
| CHIAP2 | - | 1p13.2 |
| CHIC1 | - | Xq13.2 |
| CHIC2 | - | 4q11 |
| CHID1 | carbohydrate metabolic process; chitin catabolic process; innate immune response | 11p15.5 |
| CHIT1 | chitin catabolic process; response to bacterium; immune response; carbohydrate metabolic process; polysaccharide catabolic process | 1q32.1 |
| CHKA | lipid metabolic process; phosphatidylethanolamine biosynthetic process; phosphatidylcholine biosynthetic process; CDP-choline pathway; lipid transport; signal transduction; phospholipid biosynthetic process; choline metabolic process | 11q13.2 |
| CHKB | phospholipid biosynthetic process; muscle organ development; phosphatidylethanolamine biosynthetic process; CDP-choline pathway | 22q13.33 |
| CHKB-AS1 | - | 22q13.33 |
| CHL1 | multicellular organismal development; signal transduction; nervous system development; axon guidance; cell differentiation; cell adhesion | 3p26.1 |
| CHL1-AS2 | - | 3p26.3 |
| CHM | protein geranylgeranylation; visual perception; intracellular protein transport; blood vessel development; response to stimulus | Xq21.2 |
| CHML | intracellular protein transport; visual perception | 1q42-qter |
| CHMP1A | cell cycle; negative regulation of transcription, DNA-dependent; negative regulation of S phase of mitotic cell cycle; negative regulation of transcription by glucose; gene silencing; vesicle-mediated transport; protein transport; mitotic chromosome condensation; cell division | 16q24.3 |
| CHMP1B | protein transport; cell division; cell cycle | 18p11.21 |
| CHMP2A | endosome transport; cellular membrane organization; protein transport | 19q |
| CHMP2B | endosome transport; cellular membrane organization; protein transport | 3p11.2 |
| CHMP3 | protein transport; cell cycle; apoptotic process; cell division; endosome transport; cellular membrane organization | 2p11.2 |
| CHMP4A | endosome transport; cellular membrane organization; protein transport | 14q12 |
| CHMP4B | protein transport; cellular membrane organization; endosome transport | 20q11.22 |
| CHMP4C | cellular membrane organization; protein transport; endosome transport | 8q21.13 |
| CHMP5 | regulation of receptor recycling; lysosome organization; endosome to lysosome transport; protein transport; cellular membrane organization; endosome transport | 9p13.3 |
| CHMP6 | endosome transport; cellular membrane organization; protein transport | 17q25.3 |
| CHMP7 | protein transport; cellular membrane organization; endosome transport; late endosome to vacuole transport | 8p21.3 |
| CHN1 | regulation of small GTPase mediated signal transduction; regulation of axonogenesis; ephrin receptor signaling pathway; regulation of Rac GTPase activity; motor axon guidance; nervous system development; small GTPase mediated signal transduction | 2q31.1 |
| CHN2 | regulation of small GTPase mediated signal transduction; positive regulation of GTPase activity; small GTPase mediated signal transduction; acrosome assembly | 7p15.3 |
| CHODL | muscle organ development | 21q11.2 |
| CHORDC1 | negative regulation of Rho-dependent protein serine/threonine kinase activity; regulation of response to stress; chaperone-mediated protein folding; regulation of centrosome duplication | 11q14.3 |
| CHORDC2P | - | 14q32.11 |
| CHP1 | - | 15q13.3 |
| CHP2 | - | 16p12.2 |
| CHPF | - | 2q35 |
| CHPF2 | - | 7q36.1 |
| CHPT1 | platelet activating factor biosynthetic process; regulation of cell growth; phospholipid biosynthetic process; CDP-choline pathway; phosphatidylcholine biosynthetic process; lipid metabolic process | 12q |
| CHRAC1 | chromatin remodeling | 8q24.3 |
| CHRD | BMP signaling pathway involved in spinal cord dorsal/ventral patterning; positive regulation of cell adhesion; negative regulation of osteoblast differentiation; floor plate development; forebrain development; negative regulation of BMP signaling pathway; negative regulation of cell migration; dorsal/ventral pattern formation; central nervous system development; pattern specification process; mesoderm formation; gastrulation with mouth forming second; skeletal system development | 3q27 |
| CHRDL1 | ossification; multicellular organismal development; nervous system development; cell differentiation; BMP signaling pathway | Xq23 |
| CHRDL2 | multicellular organismal development; cartilage development; cell differentiation; ossification | 11q14 |
| CHRM1 | nervous system development; protein modification process; signal transduction; G-protein coupled receptor signaling pathway; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; activation of phospholipase C activity by G-protein coupled acetylcholine receptor signaling pathway; G-protein coupled acetylcholine receptor signaling pathway; regulation of locomotion; positive regulation of cell proliferation; cell proliferation; neuromuscular synaptic transmission | 11q13 |
| CHRM2 | G-protein coupled receptor signaling pathway; regulation of smooth muscle contraction; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of phospholipase C activity by G-protein coupled acetylcholine receptor signaling pathway; synaptic transmission; nervous system development; regulation of heart contraction; response to virus; G-protein signaling, coupled to cyclic nucleotide second messenger | 7q31-q35 |
| CHRM3 | digestion; regulation of insulin secretion; positive regulation of smooth muscle contraction; small molecule metabolic process; cell proliferation; nervous system development; G-protein coupled acetylcholine receptor signaling pathway; G-protein coupled receptor signaling pathway; signal transduction; protein modification process; energy reserve metabolic process; regulation of vascular smooth muscle contraction | 1q43 |
| CHRM3-AS2 | - | 1q43 |
| CHRM4 | signal transduction; cell surface receptor signaling pathway; inhibition of adenylate cyclase activity by G-protein coupled acetylcholine receptor signaling pathway; G-protein coupled acetylcholine receptor signaling pathway; synaptic transmission; cell proliferation; response to organic substance | 11p12-p11.2 |
| CHRM5 | cell proliferation; inhibition of adenylate cyclase activity by G-protein coupled acetylcholine receptor signaling pathway; G-protein coupled acetylcholine receptor signaling pathway; dopamine transport; transmission of nerve impulse; regulation of phosphatidylinositol dephosphorylation | 15q26 |
| CHRNA1 | regulation of action potential in neuron; neuron homeostasis; neuromuscular process; musculoskeletal movement; skeletal muscle tissue growth; muscle cell homeostasis; regulation of membrane potential; neuromuscular junction development; neuromuscular synaptic transmission; synaptic transmission; signal transduction; ion transport; transport; skeletal muscle contraction | 2q31.1 |
| CHRNA10 | synaptic transmission, cholinergic; detection of mechanical stimulus involved in sensory perception of sound; cation transport; elevation of cytosolic calcium ion concentration; inner ear morphogenesis; regulation of cell proliferation | 11p15.5 |
| CHRNA2 | ion transport; signal transduction; synaptic transmission | 8p21 |
| CHRNA3 | nervous system development; synaptic transmission, cholinergic; synaptic transmission; activation of transmembrane receptor protein tyrosine kinase activity; signal transduction; regulation of smooth muscle contraction; cation transport; ion transport; heart development; locomotory behavior; synaptic transmission involved in micturition; regulation of excitatory postsynaptic membrane potential; regulation of dendrite morphogenesis; response to drug; regulation of membrane potential; behavioral response to nicotine; ion transmembrane transport; regulation of acetylcholine secretion; response to inorganic substance | 15q24 |
| CHRNA4 | calcium ion transport; ion transport; DNA repair; response to hypoxia; regulation of action potential; regulation of inhibitory postsynaptic membrane potential; cognition; response to oxidative stress; signal transduction; synaptic transmission; synaptic transmission, cholinergic; locomotory behavior; regulation of dopamine secretion; sensory perception of pain; response to nicotine; behavioral response to nicotine; B cell activation; regulation of membrane potential; neurological system process; membrane depolarization | 20q13.2-q13.3 |
| CHRNA5 | behavioral response to nicotine; synaptic transmission; signal transduction; ion transport; transport | 15q24 |
| CHRNA6 | membrane depolarization; signal transduction; synaptic transmission; regulation of dopamine secretion; ion transmembrane transport; transport; cation transport | 8p11.21 |
| CHRNA7 | memory; cognition; activation of MAPK activity; response to hypoxia; ion transport; calcium ion transport; cellular calcium ion homeostasis; signal transduction; synaptic transmission; positive regulation of angiogenesis; response to chemical stimulus; response to nicotine; negative regulation of tumor necrosis factor production; positive regulation of cell proliferation | 15q14 |
| CHRNA9 | elevation of cytosolic calcium ion concentration; synaptic transmission; sensory perception of sound; ion transport | 4p14 |
| CHRNB1 | regulation of membrane potential; muscle fiber development; behavioral response to nicotine; ion transmembrane transport; neuromuscular synaptic transmission; synaptic transmission, cholinergic; signal transduction; muscle contraction; cation transport; postsynaptic membrane organization; neurological system process | 17p13.1 |
| CHRNB2 | regulation of synapse assembly; vestibulocochlear nerve development; membrane depolarization; cognition; neurological system process; regulation of dendrite morphogenesis; negative regulation of action potential; response to ethanol; regulation of circadian sleep/wake cycle, non-REM sleep; regulation of circadian sleep/wake cycle, REM sleep; response to cocaine; B cell activation; regulation of dopamine metabolic process; social behavior; behavioral response to nicotine; response to nicotine; ion transmembrane transport; positive regulation of dopamine secretion; positive regulation of synaptic transmission, dopaminergic; regulation of synaptic transmission, dopaminergic; positive regulation of B cell proliferation; central nervous system projection neuron axonogenesis; lateral geniculate nucleus development; optic nerve morphogenesis; locomotory behavior; calcium ion transport; smooth muscle contraction; signal transduction; synaptic transmission; synaptic transmission, cholinergic; visual perception; sensor | 1q21.3 |
| CHRNB3 | transport; synaptic transmission, cholinergic; synaptic transmission; signal transduction; ion transport | 8p11.2 |
| CHRNB4 | regulation of neurotransmitter secretion; ion transport; regulation of smooth muscle contraction; signal transduction; synaptic transmission; synaptic transmission, cholinergic; locomotory behavior; behavioral response to nicotine; synaptic transmission involved in micturition; regulation of action potential | 15q24 |
| CHRND | regulation of membrane potential; transport; cation transport; muscle contraction; signal transduction; synaptic transmission; ion transmembrane transport; skeletal muscle tissue growth; musculoskeletal movement; neuromuscular process | 2q37.1 |
| CHRNE | transport; regulation of membrane potential; synaptic transmission, cholinergic; synaptic transmission; signal transduction; muscle contraction; cation transport | 17p13.2 |
| CHST1 | polysaccharide metabolic process; galactose metabolic process; sulfur compound metabolic process; inflammatory response; keratan sulfate metabolic process | 11p11.2 |
| CHST10 | cell adhesion; learning; long-term memory; metabolic process; carbohydrate biosynthetic process | 2q11.2 |
| CHST11 | polysaccharide localization; negative regulation of transforming growth factor beta receptor signaling pathway; chondroitin sulfate biosynthetic process; cartilage development; embryonic skeletal system morphogenesis; carbohydrate biosynthetic process; post-embryonic development; embryonic viscerocranium morphogenesis; developmental growth; respiratory gaseous exchange; chondrocyte development; embryonic digit morphogenesis; negative regulation of apoptotic process; tail morphogenesis; regulation of cell proliferation | 12q |
| CHST12 | dermatan sulfate biosynthetic process; chondroitin sulfate biosynthetic process; carbohydrate biosynthetic process | 7p22 |
| CHST13 | chondroitin sulfate biosynthetic process; carbohydrate biosynthetic process | 3q21.3 |
| CHST14 | dermatan sulfate proteoglycan metabolic process; carbohydrate biosynthetic process | 15q15.1 |
| CHST15 | hexose biosynthetic process | 10q26 |
| CHST2 | multicellular organismal development; metabolic process; inflammatory response; sulfur compound metabolic process; carbohydrate metabolic process; N-acetylglucosamine metabolic process | 3q24 |
| CHST3 | positive regulation of cellular component movement; peripheral nervous system axon regeneration; carbohydrate metabolic process; chondroitin sulfate biosynthetic process; T cell homeostasis; sulfur compound metabolic process | 10q22.1 |
| CHST4 | protein sulfation; N-acetylglucosamine metabolic process; carbohydrate metabolic process; sulfur compound metabolic process; cellular component movement; cell-cell signaling; cell adhesion; immune response; inflammatory response | 16q22.2 |
| CHST5 | carbohydrate metabolic process; sulfur compound metabolic process; protein sulfation; N-acetylglucosamine metabolic process | 16q22.3 |
| CHST6 | keratan sulfate biosynthetic process; sulfur compound metabolic process; N-acetylglucosamine metabolic process; carbohydrate metabolic process | 16q22 |
| CHST7 | N-acetylglucosamine metabolic process; sulfur compound metabolic process; chondroitin sulfate biosynthetic process; polysaccharide metabolic process | Xp11.23 |
| CHST8 | proteoglycan biosynthetic process; sulfur compound metabolic process; central nervous system development; carbohydrate biosynthetic process; hormone biosynthetic process | 19q13.1 |
| CHST9 | proteoglycan biosynthetic process; hormone biosynthetic process; glycosaminoglycan metabolic process; carbohydrate biosynthetic process; metabolic process; sulfur compound metabolic process | 18q11.2 |
| CHSY1 | negative regulation of ossification; response to nutrient levels; chondroitin sulfate biosynthetic process | 15q26.3 |
| CHSY3 | - | 5q23.3 |
| CHTF18 | cell cycle; DNA replication | 16p13.3 |
| CHTF8 | cell cycle; DNA replication | 16q22.1 |
| CHTOP | regulation of transcription, DNA-dependent | 1q21.3 |
| CHUK | positive regulation of I-kappaB kinase/NF-kappaB cascade; toll-like receptor 4 signaling pathway; fibroblast growth factor receptor signaling pathway; anatomical structure morphogenesis; osteoclast differentiation; nucleotide-binding oligomerization domain containing signaling pathway; mammary gland alveolus development; mammary gland epithelial cell proliferation; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; response to virus; TRIF-dependent toll-like receptor signaling pathway; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; odontogenesis of dentin-containing tooth; innate immune response; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; T cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; immune response; morphogenesis of an epithelial sheet; toll-like receptor signaling pathway; MyD88-dependent toll-like recep | 10q24-q25 |
| CHURC1 | multicellular organismal development; positive regulation of transcription, DNA-dependent | 14q23.3 |
| CIAO1 | regulation of transcription from RNA polymerase II promoter; chromosome segregation; positive regulation of cell proliferation; iron-sulfur cluster assembly | 2q11.2 |
| CIAPIN1 | anti-apoptosis; hemopoiesis; apoptotic process | 16q21 |
| CIAPIN1P | - | 18q11.2 |
| CIART | - | 1q21.2 |
| CIB1 | cell adhesion; double-strand break repair; apoptotic process; response to DNA damage stimulus; endomitotic cell cycle; negative regulation of cell proliferation | 15q25.3-q26 |
| CIB2 | integrin-mediated signaling pathway | 15q24 |
| CIB3 | - | 19p13.12 |
| CIB4 | - | 2p23.3 |
| CIC | regulation of transcription, DNA-dependent | 19q13.2 |
| CICP11 | - | 7p11.2 |
| CICP12 | - | - |
| CICP13 | - | 1q41 |
| CICP14 | - | 7q32.1 |
| CICP16 | - | - |
| CICP17 | - | 7p12.1 |
| CICP18 | - | 6p25.3 |
| CICP22 | - | 7p14.1 |
| CICP23 | - | 11p15.5 |
| CICP24 | - | - |
| CICP26 | - | 1q42.13 |
| CICP3 | - | 1p36.33 |
| CICP4 | - | 20q13.33 |
| CICP7 | - | 1p36.33 |
| CICP8 | - | 7p11.2 |
| CIDEA | negative regulation of transforming growth factor beta receptor signaling pathway; lipid storage; cell death; apoptotic process; lipid metabolic process; DNA fragmentation involved in apoptotic nuclear change; DNA damage response, signal transduction resulting in induction of apoptosis; positive regulation of sequestering of triglyceride; temperature homeostasis; negative regulation of tumor necrosis factor production; negative regulation of apoptotic process; negative regulation of cytokine secretion; negative regulation of lipid catabolic process | 18p11.21|18 |
| CIDEB | induction of apoptosis; DNA damage response, signal transduction resulting in induction of apoptosis; apoptotic process | 14q12 |
| CIDEC | induction of apoptosis; apoptotic process | 3p25.3 |
| CIDECP | - | 3p25.3 |
| CIITA | negative regulation of collagen biosynthetic process; interferon-gamma-mediated signaling pathway; response to antibiotic; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of MHC class II biosynthetic process; positive regulation of MHC class I biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; immune response; cytokine-mediated signaling pathway; response to interferon-gamma | 16p13 |
| CILP | negative regulation of insulin-like growth factor receptor signaling pathway | 15q22 |
| CILP2 | - | 19p13.11 |
| CINP | DNA replication; DNA repair; cell division; cell cycle | 14q32.31 |
| CIPC | - | 14q24.3 |
| CIR1 | mRNA processing; regulation of transcription, DNA-dependent; RNA splicing; negative regulation of transcription, DNA-dependent | 2q31.1 |
| CIR1P2 | - | 4q26 |
| CIRBP | response to cold; response to UV; negative regulation of translation; stress granule assembly; positive regulation of translation; mRNA stabilization | 19p13.3 |
| CIRBP-AS1 | - | 19p13.3 |
| CISD1 | regulation of cellular respiration | 10q21.1 |
| CISD1P1 | - | 2p24.1 |
| CISD2 | mitochondrion degradation; multicellular organismal aging; regulation of autophagy | 4q24 |
| CISD3 | - | 17q12 |
| CISH | intracellular signal transduction; regulation of cell growth; JAK-STAT cascade involved in growth hormone signaling pathway; negative regulation of signal transduction | 3p21.3 |
| CITED1 | negative regulation of osteoblast differentiation; response to estrogen stimulus; negative regulation of neuron apoptosis; pigmentation; melanin biosynthetic process; response to interferon-gamma; response to cytokine stimulus; response to insulin stimulus; response to lipopolysaccharide; positive regulation of transforming growth factor beta receptor signaling pathway; response to transforming growth factor beta stimulus; apoptotic process; positive regulation of anti-apoptosis; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; response to cAMP; mesenchymal to epithelial transition; response to parathyroid hormone stimulus; response to interleukin-11; response to interleukin-9; response to interleukin-6; response to interleukin-4; response to interleukin-2; response to interleukin-1; SMAD protein signal transduction; transforming growth factor beta receptor signaling pathway; multicellular organismal development; cell proliferation; positive regulation | Xq13.1 |
| CITED2 | response to estrogen stimulus; adrenal cortex formation; positive regulation of peroxisome proliferator activated receptor signaling pathway; response to fluid shear stress; positive regulation of male gonad development; positive regulation of cell cycle; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; decidualization; thymus development; embryonic camera-type eye morphogenesis; erythrocyte development; embryonic process involved in female pregnancy; bone morphogenesis; cardiac septum morphogenesis; pulmonary artery morphogenesis; cardiac neural crest cell development involved in heart development; hemopoietic progenitor cell differentiation; lens morphogenesis in camera-type eye; leukocyte differentiation; outflow tract morphogenesis; regulation of organ formation; endocardial cushion development; ventricular septum development; anti-apoptosis; multicellular organismal development; | 6q23.3 |
| CITED4 | response to estrogen stimulus; positive regulation of transcription, DNA-dependent | 1p34.2|1p35-p34 |
| CIZ1 | positive regulation of DNA-dependent DNA replication initiation | 9q34.1 |
| CKAP2 | cytokinesis after mitosis; positive regulation of transcription from RNA polymerase II promoter; cell cycle; apoptotic process | 13q14 |
| CKAP2L | - | 2q13 |
| CKAP4 | - | 12q23.3 |
| CKAP5 | mitotic cell cycle; spindle organization; establishment or maintenance of microtubule cytoskeleton polarity; mitotic prometaphase; RNA transport; cell division; centrosome organization; M phase of mitotic cell cycle; G2/M transition of mitotic cell cycle | 11p11.2 |
| CKB | small molecule metabolic process; cellular nitrogen compound metabolic process; cellular chloride ion homeostasis; brain development; creatine metabolic process | 14q32 |
| CKBP1 | - | 16q11.2 |
| CKLF | macrophage chemotaxis; cell proliferation; lymphocyte chemotaxis; chemotaxis; neutrophil chemotaxis; secretion by cell | 16q21 |
| CKMT1A | small molecule metabolic process; creatine metabolic process; cellular nitrogen compound metabolic process | 15q15 |
| CKMT1B | - | 15q15 |
| CKMT2 | muscle contraction; creatine metabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 5q13.3 |
| CKMT2-AS1 | - | 5q14.1 |
| CKS1B | G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; mitotic cell cycle; cell cycle; regulation of cyclin-dependent protein kinase activity; cell proliferation; cell division | 1q21.2 |
| CKS1BP3 | - | 5q12.2 |
| CKS1BP6 | - | Xp21.2 |
| CKS1BP7 | - | 8q21.13 |
| CKS2 | phosphatidylinositol-mediated signaling; cell proliferation; meiosis I; cell division; spindle organization; cell cycle; regulation of cyclin-dependent protein kinase activity | 9q22 |
| CLASP1 | microtubule bundle formation; microtubule nucleation; negative regulation of microtubule depolymerization; establishment or maintenance of cell polarity; axon guidance; mitotic cell cycle; mitotic prometaphase; microtubule cytoskeleton organization; M phase of mitotic cell cycle; exit from mitosis; microtubule organizing center organization; negative regulation of microtubule polymerization or depolymerization; microtubule anchoring; cell division; G2/M transition of mitotic cell cycle | 2q14.2-q14.3 |
| CLASP2 | mitotic prometaphase; mitotic cell cycle; M phase of mitotic cell cycle; microtubule anchoring; regulation of microtubule-based process; regulation of microtubule polymerization or depolymerization; microtubule organizing center organization; axon guidance; establishment or maintenance of cell polarity; cell division; negative regulation of microtubule depolymerization; microtubule nucleation | 3p22.3 |
| CLASRP | RNA splicing; mRNA processing | 19q13.3 |
| CLC | lipid catabolic process; multicellular organismal development | 19q13.1 |
| CLCA1 | calcium ion transport; chloride transport; cellular response to hypoxia; ion transport; transport | 1p22.3 |
| CLCA2 | ion transmembrane transport; cell adhesion; chloride transport; transport | 1p22.3 |
| CLCA3P | transport; ion transport | 1p31-p22 |
| CLCA4 | transport; chloride transport | 1p31-p22 |
| CLCC1 | - | 1p13.3 |
| CLCF1 | negative regulation of apoptotic process; positive regulation of astrocyte differentiation; positive regulation of isotype switching to IgE isotypes; negative regulation of neuron apoptosis; positive regulation of immunoglobulin production; cell surface receptor signaling pathway; JAK-STAT cascade; positive regulation of cell proliferation; cytokine-mediated signaling pathway; B cell differentiation; positive regulation of B cell proliferation; positive regulation of tyrosine phosphorylation of Stat3 protein | 11q13.3 |
| CLCN1 | transport; ion transport; chloride transport; muscle contraction; neuronal action potential propagation; transmembrane transport | 7q35 |
| CLCN2 | lung development; retina development in camera-type eye; transmembrane transport; regulation of anion transport; cell differentiation involved in salivary gland development; ion transport; transport | 3q27-q28 |
| CLCN3 | transport; transmembrane transport; endosomal lumen acidification; regulation of pH; chloride transport; ion transport | 4q33 |
| CLCN4 | transport; ion transport; chloride transport; transmembrane transport | Xp22.3 |
| CLCN5 | transport; ion transport; chloride transport; endocytosis; excretion; transmembrane transport | Xp11.23-p11.22 |
| CLCN6 | cell volume homeostasis; transmembrane transport; signal transduction; chloride transport; ion transport | 1p36 |
| CLCN7 | ion transport; chloride transport; response to pH; transmembrane transport; transport | 16p13 |
| CLCNKA | transport; ion transport; chloride transport; excretion; transmembrane transport | 1p36 |
| CLCNKB | ion transport; transmembrane transport; excretion; chloride transport; transport | 1p36 |
| CLCP2 | - | 13q34 |
| CLDN1 | cell adhesion; interspecies interaction between organisms; calcium-independent cell-cell adhesion | 3q28-q29 |
| CLDN10 | cell adhesion; calcium-independent cell-cell adhesion | 13q31-q34 |
| CLDN10-AS1 | - | - |
| CLDN11 | calcium-independent cell-cell adhesion; axon ensheathment; spermatogenesis; cell adhesion | 3q26.2-q26.3 |
| CLDN12 | cell junction assembly; calcium-independent cell-cell adhesion; cell-cell junction organization; tight junction assembly | 7q21 |
| CLDN14 | protein complex assembly; calcium-independent cell-cell adhesion; cell junction assembly; cell-cell junction organization; tight junction assembly | 21q22.3 |
| CLDN15 | calcium-independent cell-cell adhesion; cell junction assembly; cell-cell junction organization; tight junction assembly | 7q11.22 |
| CLDN16 | excretion; cellular metal ion homeostasis; ion transport; calcium-independent cell-cell adhesion; magnesium ion transport | 3q28 |
| CLDN19 | response to stimulus; apical junction assembly; neuronal action potential propagation; calcium-independent cell-cell adhesion; visual perception | 1p34.2 |
| CLDN2 | calcium-independent cell-cell adhesion | Xq22.3-q23 |
| CLDN20 | tight junction assembly; cell-cell junction organization; cell junction assembly; calcium-independent cell-cell adhesion | 6q25 |
| CLDN22 | cell junction assembly; calcium-independent cell-cell adhesion; cell-cell junction organization; tight junction assembly | 4q35.1 |
| CLDN23 | cell junction assembly; calcium-independent cell-cell adhesion; cell-cell junction organization; tight junction assembly | 8p23.1 |
| CLDN24 | - | 4q35.1 |
| CLDN3 | calcium-independent cell-cell adhesion; response to hypoxia | 7q11.23 |
| CLDN34 | - | Xp22.2 |
| CLDN4 | female pregnancy; response to progesterone stimulus; calcium-independent cell-cell adhesion | 7q11.23 |
| CLDN5 | calcium-independent cell-cell adhesion | 22q11.21 |
| CLDN6 | calcium-independent cell-cell adhesion | 16p13.3 |
| CLDN7 | calcium-independent cell-cell adhesion | - |
| CLDN8 | calcium-independent cell-cell adhesion | 21q22.11 |
| CLDN9 | calcium-independent cell-cell adhesion; cell junction assembly; cell-cell junction organization; tight junction assembly | 16p13.3 |
| CLDND1 | - | 3q12.1 |
| CLDND2 | - | 19q13.41 |
| CLEC10A | innate immune response; endocytosis | 17p13.1 |
| CLEC11A | positive regulation of cell proliferation | 19q13.3 |
| CLEC12A | - | 12p13.2 |
| CLEC12B | - | 12p13.2 |
| CLEC14A | - | 14q21.1 |
| CLEC16A | - | 16p13.13 |
| CLEC17A | - | 19p13.12 |
| CLEC18B | - | 16q22.3 |
| CLEC1A | defense response; cell surface receptor signaling pathway | 12p13.2 |
| CLEC1B | cell surface receptor signaling pathway; defense response | 12p13.2 |
| CLEC2B | - | 12p13-p12 |
| CLEC2D | cell surface receptor signaling pathway | 12p13 |
| CLEC2L | - | 7q34 |
| CLEC3B | skeletal system development; ossification; positive regulation of plasminogen activation; bone mineralization; cellular response to organic substance; cellular response to transforming growth factor beta stimulus | 3p22-p21.3 |
| CLEC4A | cell surface receptor signaling pathway; innate immune response; cell adhesion | 12p13 |
| CLEC4C | innate immune response | 12p13.2-p12.3 |
| CLEC4D | innate immune response | 12p13.31 |
| CLEC4E | positive regulation of cytokine secretion; immune response | 12p13.31 |
| CLEC4F | endocytosis | 2p13.3 |
| CLEC4G | - | 19p13.2 |
| CLEC4GP1 | - | 19p13.2 |
| CLEC4M | peptide antigen transport; intracellular signal transduction; antigen processing and presentation; viral genome replication; virion attachment to host cell surface receptor; cell-cell recognition; virus-host interaction; interspecies interaction between organisms; leukocyte cell-cell adhesion; innate immune response; endocytosis; intracellular virion transport | 19p13 |
| CLEC5A | osteoblast development; anti-apoptosis; innate immune response; cellular defense response; interspecies interaction between organisms; signal transduction; response to virus | 7q33 |
| CLEC7A | response to molecule of fungal origin; phagocytosis, engulfment; phagocytosis, recognition; cell surface pattern recognition receptor signaling pathway; defense response to protozoan; cell-cell adhesion; T cell activation; positive regulation of tumor necrosis factor production; pattern recognition receptor signaling pathway; detection of yeast; inflammatory response; cell recognition; carbohydrate mediated signaling; positive regulation of phagocytosis; innate immune response | 12p13.2 |
| CLEC9A | positive regulation of cytokine secretion; receptor-mediated endocytosis | 12p13.2 |
| CLGN | binding of sperm to zona pellucida; single fertilization; protein complex assembly; protein folding | 4q28.3-q31.1 |
| CLHC1 | - | 2p16.1 |
| CLIC1 | signal transduction; chloride transport; ion transport; transport | 6p21.3 |
| CLIC1P1 | - | 12q24.31 |
| CLIC2 | signal transduction; chloride transport; ion transport; transport | Xq28 |
| CLIC3 | ion transport; chloride transport; signal transduction | 9q34.3 |
| CLIC4 | cell differentiation; establishment or maintenance of apical/basal cell polarity; negative regulation of cell migration; keratinocyte differentiation; chloride transport; ion transport; regulation of cytoskeleton organization; cellular response to calcium ion | 1p36.11 |
| CLIC5 | transport; ion transport; sensory perception of sound; auditory receptor cell stereocilium organization; neuromuscular process controlling balance; protein localization; chloride transport; female pregnancy | 6p12.3 |
| CLIC6 | ion transport | 21q22.12 |
| CLINT1 | post-Golgi vesicle-mediated transport; endocytosis; cellular membrane organization | 5q33.3 |
| CLIP1 | mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; positive regulation of microtubule polymerization; mitosis; transport; microtubule bundle formation | 12q24.3 |
| CLIP2 | - | 7q11.23 |
| CLIP3 | positive regulation of glucose transport; positive regulation of endocytosis; positive regulation of protein phosphorylation; membrane biogenesis; fat cell differentiation; positive regulation of apoptotic process; chaperone-mediated protein transport; negative regulation of microtubule polymerization; peptidyl-L-cysteine S-palmitoylation; positive regulation of establishment of protein localization in plasma membrane | 19q13.12 |
| CLIP4 | - | 2p23.2 |
| CLK1 | protein autophosphorylation; regulation of RNA splicing; peptidyl-tyrosine phosphorylation; peptidyl-threonine phosphorylation; peptidyl-serine phosphorylation; cell proliferation | 2q33 |
| CLK2 | protein phosphorylation; response to ionizing radiation; regulation of RNA splicing; negative regulation of gluconeogenesis; protein autophosphorylation | 1q21 |
| CLK2P1 | - | 7p15.3 |
| CLK3 | protein autophosphorylation; regulation of RNA splicing; peptidyl-tyrosine phosphorylation; protein phosphorylation | 15q24 |
| CLK4 | protein autophosphorylation; regulation of RNA splicing; peptidyl-tyrosine phosphorylation | 5q35 |
| CLLU1 | - | 12q22 |
| CLLU1OS | - | 12q22 |
| CLMN | - | 14q32.13 |
| CLMP | - | 11q24.1 |
| CLN3 | vacuolar transport; arginine transport; associative learning; cell death; lysosomal lumen acidification; lysosome organization; protein folding; receptor-mediated endocytosis; amino acid transport; sphingomyelin metabolic process; galactosylceramide metabolic process; glucosylceramide metabolic process; ceramide metabolic process; cellular amino acid metabolic process; autophagic vacuole fusion; cellular membrane organization; macroautophagy; negative regulation of macroautophagy; protein processing; protein catabolic process; ionotropic glutamate receptor signaling pathway; lysosomal lumen pH elevation; neurotransmitter metabolic process; amyloid precursor protein catabolic process; negative regulation of apoptotic process; negative regulation of catalytic activity; negative regulation of neuron apoptosis; negative regulation of proteolysis; neuromuscular process controlling balance; regulation of action potential; globoside metabolic process; cytosolic calcium ion homeostasis | 16p12.1 |
| CLN5 | lysosome organization; lysosomal lumen acidification; brain development; visual perception; cell death; neurogenesis; protein catabolic process; neuron maturation | 13q21.1-q32 |
| CLN6 | cellular macromolecule catabolic process; cell death; cholesterol metabolic process; protein catabolic process; visual perception; lysosomal lumen acidification; lysosome organization; ganglioside metabolic process; positive regulation of proteolysis; glycosaminoglycan metabolic process; locomotion involved in locomotory behavior | 15q23 |
| CLN8 | negative regulation of transferase activity; neurofilament cytoskeleton organization; retina development in camera-type eye; age-dependent response to oxidative stress; phospholipid metabolic process; ceramide metabolic process; lipid transport; mitochondrial membrane organization; nervous system development; glutamate uptake involved in synaptic transmission; neuromuscular process controlling balance; neuromuscular process controlling posture; musculoskeletal movement; ceramide biosynthetic process; negative regulation of proteolysis; photoreceptor cell maintenance; cellular protein catabolic process; negative regulation of apoptotic process; protein catabolic process; somatic motor neuron differentiation; lipid biosynthetic process; lysosome organization; adult walking behavior; cholesterol metabolic process; cell death; social behavior; associative learning; regulation of cell size | 8p23 |
| CLNK | immune response; intracellular signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway | 4p16.1 |
| CLNS1A | cell volume homeostasis; blood circulation; gene expression; RNA metabolic process; ncRNA metabolic process; transport; spliceosomal snRNP assembly; chloride transport | 11q13.5-q14 |
| CLOCK | entrainment of circadian clock; circadian rhythm; photoperiodism; DNA damage checkpoint; regulation of transcription from RNA polymerase II promoter; signal transduction; circadian regulation of gene expression; positive regulation of transcription from RNA polymerase II promoter; cellular response to ionizing radiation | 4q12 |
| CLP1 | transcription from RNA polymerase II promoter; siRNA loading onto RISC involved in RNA interference; mRNA 3'-end processing; targeting of mRNA for destruction involved in RNA interference; gene expression; RNA splicing; mRNA processing; tRNA splicing, via endonucleolytic cleavage and ligation; termination of RNA polymerase II transcription; nuclear mRNA splicing, via spliceosome | 11q12 |
| CLPB | cellular response to heat | 11q13.4 |
| CLPP | proteolysis | 19p13.3 |
| CLPSL1 | lipid catabolic process; digestion | 6p21.31 |
| CLPSL2 | lipid catabolic process; digestion | 6p21.31 |
| CLPTM1 | multicellular organismal development; regulation of T cell differentiation in thymus; cell differentiation | 19q13.3 |
| CLPTM1L | apoptotic process | 5p15.33 |
| CLPX | ATP catabolic process; protein folding; positive regulation of peptidase activity; proteolysis involved in cellular protein catabolic process | 15q22.31 |
| CLRN1 | sensory perception of sound; photoreceptor cell maintenance; response to stimulus; sensory perception of light stimulus; equilibrioception | 3q25 |
| CLRN3 | - | 10q26.2 |
| CLSPN | DNA damage checkpoint; DNA replication; mitotic cell cycle DNA replication checkpoint; activation of protein kinase activity; G2/M transition DNA damage checkpoint; peptidyl-serine phosphorylation; cell cycle; cellular component disassembly involved in apoptosis; apoptotic process; DNA repair; cell cycle checkpoint | 1p34.2 |
| CLSTN1 | cell adhesion; homophilic cell adhesion | 1p36.22 |
| CLSTN2 | homophilic cell adhesion; cell adhesion | 3q23 |
| CLSTN2-AS1 | - | 3q23 |
| CLSTN3 | cell adhesion; homophilic cell adhesion | 12p13.31 |
| CLTA | nerve growth factor receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; cellular membrane organization; axon guidance; epidermal growth factor receptor signaling pathway; endocytosis; post-Golgi vesicle-mediated transport; intracellular protein transport | 9p13 |
| CLTB | intracellular protein transport; vesicle-mediated transport | 5q35 |
| CLTC | post-Golgi vesicle-mediated transport; nerve growth factor receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; transferrin transport; receptor internalization; vesicle-mediated transport; cellular membrane organization; axon guidance; epidermal growth factor receptor signaling pathway; mitosis; receptor-mediated endocytosis; intracellular protein transport | 17q11-qter |
| CLTC-IT1 | - | 17q23.2 |
| CLTCL1 | receptor-mediated endocytosis; mitosis; anatomical structure morphogenesis; vesicle-mediated transport; positive regulation of glucose import; intracellular protein transport; signal transduction | 22q11.21 |
| CLU | release of cytochrome c from mitochondria; lipid metabolic process; anti-apoptosis; positive regulation of cell differentiation; innate immune response; reverse cholesterol transport; negative regulation of apoptotic process; positive regulation of apoptotic process; negative regulation of protein homooligomerization; endocrine pancreas development; platelet activation; response to virus; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; complement activation; complement activation, classical pathway; response to oxidative stress; blood coagulation; cell death; positive regulation of cell proliferation; induction of apoptosis by intracellular signals; response to wounding; protein stabilization; neuron projection morphogenesis; platelet degranulation; positive regulation of intrinsic apoptotic signaling pathway; positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; cellular response to growth factor stimulus; chaperone-mediated | 8p21-p12 |
| CLUAP1 | - | 16p13.3 |
| CLUH | - | 17p13.3 |
| CLUHP3 | - | 16p11.2 |
| CLUHP4 | - | - |
| CLUHP5 | - | - |
| CLUL1 | cell death | 18p11.32 |
| CLVS1 | lysosome organization | 8q12.3 |
| CLYBL | cellular aromatic compound metabolic process | 13q32 |
| CMA1 | regulation of inflammatory response; proteolysis; interleukin-1 beta biosynthetic process | 14q11.2 |
| CMAHP | - | 6p21.32 |
| CMAS | lipopolysaccharide biosynthetic process | 12p12.1 |
| CMBL | - | 5p15.2 |
| CMC1 | - | 3p24.1 |
| CMC2 | - | 16q23.2 |
| CMC4 | - | Xq28 |
| CMIP | - | 16q23 |
| CMKLR1 | positive regulation of macrophage chemotaxis; skeletal system development; chemotaxis; G-protein coupled receptor signaling pathway; negative regulation of NF-kappaB transcription factor activity; negative regulation of interleukin-12 production; immune response; regulation of calcium-mediated signaling | 12q24.1 |
| CMPK1 | pyrimidine ribonucleotide biosynthetic process; nucleobase-containing small molecule metabolic process; small molecule metabolic process; nucleobase-containing small molecule interconversion; UMP biosynthetic process | 1p32 |
| CMPK2 | pyrimidine nucleotide biosynthetic process; dTDP biosynthetic process; cellular response to lipopolysaccharide | 2p25.2 |
| CMSS1 | - | 3q12.1 |
| CMTM1 | chemotaxis | 16q21 |
| CMTM3 | chemotaxis | 16q21 |
| CMTM4 | chemotaxis | 16q21-q22.1 |
| CMTM5 | chemotaxis | 14q11.2 |
| CMTM6 | chemotaxis | 3p22.3 |
| CMTM7 | chemotaxis | 3p22.3 |
| CMTM8 | chemotaxis | 3p22.3 |
| CMTR1 | mRNA capping; mRNA methylation | 6p21.2 |
| CMTR2 | - | 16q22.2 |
| CMYA5 | - | 5q14.1 |
| CNBD1 | - | 8q21.3 |
| CNBD2 | - | 20q11.23 |
| CNBP | positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; cholesterol biosynthetic process; positive regulation of cell proliferation; regulation of transcription, DNA-dependent | 3q21 |
| CNDP1 | proteolysis; metabolic process | 18q22.3 |
| CNDP2 | small molecule metabolic process; cellular nitrogen compound metabolic process; xenobiotic metabolic process; glutathione biosynthetic process; sulfur amino acid metabolic process; proteolysis | 18q22.3 |
| CNEP1R1 | positive regulation of triglyceride biosynthetic process; positive regulation of protein dephosphorylation; protein localization to nucleus; lipid metabolic process | 16q12.1 |
| CNFN | keratinization | 19q13.2 |
| CNGA1 | transmembrane transport; response to stimulus; visual perception; ion transport; transport | 4p12 |
| CNGA2 | response to stimulus; sensory perception of smell; ion transmembrane transport | Xq27 |
| CNGA3 | transport; ion transport; cation transport; signal transduction; response to stimulus; visual perception; ion transmembrane transport; retinal cone cell development; transmembrane transport | 2q11.2 |
| CNGA4 | ion transport; sensory perception of smell; response to stimulus; transmembrane transport | 11p15.4 |
| CNGB1 | transport; response to stimulus; photoreceptor cell maintenance; sensory perception of smell; phototransduction; ion transport; visual perception | 16q13 |
| CNGB3 | ion transmembrane transport; visual perception; response to stimulus; signal transduction; cation transport; transport | 8q21.3 |
| CNIH1 | immune response; signal transduction; vesicle-mediated transport; intracellular signal transduction | 14q22.2 |
| CNIH2 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; synaptic transmission, glutamatergic; intracellular signal transduction; regulation of membrane potential; localization within membrane | 11q13.2 |
| CNIH3 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; intracellular signal transduction | 1q42.12 |
| CNIH4 | intracellular signal transduction | 1q42.11 |
| CNKSR1 | Rho protein signal transduction; Ras protein signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway | 1p36.11 |
| CNKSR2 | regulation of signal transduction | Xp22.12 |
| CNKSR3 | negative regulation of ERK1 and ERK2 cascade; negative regulation of peptidyl-serine phosphorylation; positive regulation of sodium ion transport; regulation of signal transduction | 6q25.2 |
| CNN1 | regulation of smooth muscle contraction; actomyosin structure organization | 19p13.2-p13.1 |
| CNN2 | negative regulation of cell migration; hemopoiesis; positive regulation of gene expression; cytoskeleton organization; actomyosin structure organization; regulation of actin filament-based process; wound healing; regulation of cell proliferation; negative regulation of phagocytosis; cellular response to mechanical stimulus | 19p13.3 |
| CNN2P1 | - | 22q12.2 |
| CNN2P12 | - | 13q11 |
| CNN2P6 | - | 3p23 |
| CNN2P9 | - | 6q21 |
| CNN3 | actomyosin structure organization; smooth muscle contraction; negative regulation of ATPase activity | 1p22-p21 |
| CNN3P1 | - | 6p25.1 |
| CNNM1 | ion transport | 10q24.2 |
| CNNM2 | ion transport | 10q24.32 |
| CNNM3 | ion transport | 2p12-p11.2 |
| CNNM4 | biomineral tissue development; response to stimulus; ion transport; visual perception | 2q11 |
| CNOT1 | nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; regulation of transcription, DNA-dependent; gene expression; RNA metabolic process; mRNA metabolic process | 16q21 |
| CNOT10 | nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; RNA metabolic process; gene expression; mRNA metabolic process | 3p22.3 |
| CNOT10-AS1 | - | - |
| CNOT11 | - | 2q11.2 |
| CNOT2 | nuclear-transcribed mRNA poly(A) tail shortening; gene expression; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; regulation of transcription from RNA polymerase II promoter; mRNA metabolic process; RNA metabolic process | 12q15 |
| CNOT3 | mRNA metabolic process; RNA metabolic process; gene expression; regulation of transcription, DNA-dependent; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 19q13.4 |
| CNOT4 | protein autoubiquitination; mRNA metabolic process; RNA metabolic process; gene expression; regulation of transcription, DNA-dependent; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 7q22-qter |
| CNOT6 | RNA metabolic process; mRNA metabolic process; gene expression; nuclear-transcribed mRNA poly(A) tail shortening; regulation of transcription, DNA-dependent; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 5q35.3 |
| CNOT6L | RNA metabolic process; gene expression; mRNA processing; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; mRNA metabolic process | 4q13.3 |
| CNOT6LP1 | - | 15q21.3 |
| CNOT7 | nuclear-transcribed mRNA poly(A) tail shortening; signal transduction; carbohydrate metabolic process; positive regulation of transcription from RNA polymerase II promoter; mRNA metabolic process; regulation of transcription, DNA-dependent; RNA metabolic process; gene expression; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 8p22-p21.3 |
| CNOT7P2 | - | 1p13.1 |
| CNOT8 | negative regulation of cell proliferation; regulation of transcription, DNA-dependent; gene expression; RNA metabolic process; mRNA metabolic process; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 5q31-q33 |
| CNP | microtubule cytoskeleton organization; synaptic transmission; axonogenesis; adult locomotory behavior; cyclic nucleotide catabolic process; response to toxin; RNA metabolic process | 17q21 |
| CNPPD1 | regulation of cyclin-dependent protein kinase activity | 2q35 |
| CNPY1 | - | 7q36.3 |
| CNPY2 | - | 12q15 |
| CNPY3 | innate immune response | 6pter-p12.1 |
| CNPY4 | - | 7q22.1 |
| CNR1 | response to morphine; negative regulation of ion transport; memory; response to ethanol; negative regulation of action potential; negative regulation of blood pressure; positive regulation of blood pressure; regulation of insulin secretion; negative regulation of nitric-oxide synthase activity; regulation of synaptic transmission, glutamatergic; maternal process involved in female pregnancy; regulation of feeding behavior; regulation of penile erection; response to cocaine; positive regulation of neuron projection development; behavior; response to nutrient; aging; regulation of lipid metabolic process; sensory perception of pain; positive regulation of fever generation; negative regulation of fatty acid beta-oxidation; regulation of synaptic transmission, GABAergic; spermatogenesis; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein signaling, coupled to cyclic nucleotide second messenger; response to stress; positive regulation of acute inflammatory response to antigenic stimulus; r | 6q14-q15 |
| CNR2 | G-protein signaling, coupled to cyclic nucleotide second messenger; immune response; behavior; sensory perception of pain; negative regulation of synaptic transmission, GABAergic; response to lipopolysaccharide; negative regulation of mast cell activation; negative regulation of action potential; negative regulation of inflammatory response; negative regulation of nitric-oxide synthase activity; response to amphetamine | 1p36.11 |
| CNRIP1 | - | 2p14 |
| CNST | negative regulation of phosphatase activity; positive regulation of Golgi to plasma membrane protein transport | 1q44 |
| CNTD1 | - | 17q21.31 |
| CNTD2 | - | 19q13.2 |
| CNTFR | suckling behavior; brainstem development; signal transduction; nervous system development; sex differentiation; positive regulation of cell proliferation; negative regulation of neuron apoptosis; skeletal muscle organ development; ciliary neurotrophic factor-mediated signaling pathway | 9p13 |
| CNTLN | - | 9p22.2 |
| CNTN1 | cell adhesion; Notch signaling pathway; axon guidance | 12q11-q12 |
| CNTN2 | microtubule cytoskeleton organization; establishment of protein localization to juxtaparanode region of axon; positive regulation of adenosine receptor signaling pathway; regulation of astrocyte differentiation; regulation of neuronal synaptic plasticity; negative regulation of neuron differentiation; clustering of voltage-gated potassium channels; neuron projection development; neuron migration; cell adhesion; cell-matrix adhesion; axon guidance; axonal fasciculation; learning; adult walking behavior; regulation of cell morphogenesis involved in differentiation; positive regulation of protein processing; cerebral cortex GABAergic interneuron migration; central nervous system myelination; regulation of axon diameter; cellular protein localization; receptor internalization | 1q32.1 |
| CNTN3 | cell adhesion; nervous system development | 3p12.3 |
| CNTN4 | brain development; nervous system development; axonogenesis; axon guidance; axonal fasciculation; neuron projection development; negative regulation of neuron differentiation; regulation of synaptic plasticity; cell adhesion; neuron cell-cell adhesion | 3p26.3 |
| CNTN4-AS2 | - | - |
| CNTN5 | cell adhesion | 11q22.1 |
| CNTN6 | cell adhesion; Notch signaling pathway; axon guidance; central nervous system development | 3p26-p25 |
| CNTNAP1 | neuromuscular process controlling posture; signal transduction; cell adhesion; cytoskeleton organization; protein localization to paranode region of axon; axon guidance; neuromuscular process controlling balance; neuron projection morphogenesis; axon cargo transport; paranodal junction assembly | 17q21 |
| CNTNAP2 | transmission of nerve impulse; striatum development; neuron recognition; behavior; brain development; protein localization to juxtaparanode region of axon; limbic system development; thalamus development; cerebral cortex development; vocalization behavior; neuron projection development; cell adhesion; superior temporal gyrus development; signal transduction; cellular protein localization; clustering of voltage-gated potassium channels | 7q35 |
| CNTNAP3 | cell recognition; signal transduction; cell adhesion | 9p13.1 |
| CNTNAP4 | signal transduction; cell adhesion | 16q23.1 |
| CNTNAP5 | cell adhesion; signal transduction | 2q14.3 |
| CNTRL | mitotic cell cycle; G2/M transition of mitotic cell cycle; cell division | 9q33.2 |
| CNTROB | centrosome separation; cytokinesis; cell cycle; centriole replication | 17p13.1 |
| COA1 | - | 7p13 |
| COA3 | - | 17q21 |
| COA4 | - | 11q13.4 |
| COA5 | - | 2q11.2 |
| COA6 | - | 1q42.2 |
| COA7 | - | 1p32.3 |
| COASY | coenzyme biosynthetic process; coenzyme A biosynthetic process; pantothenate metabolic process; small molecule metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; biosynthetic process | 17q12-q21 |
| COBL | neural tube closure | 7p12.1 |
| COBLL1 | - | 2q24.3 |
| COCH | sensory perception of sound | 14q11.2-q13 |
| COG1 | intra-Golgi vesicle-mediated transport; Golgi organization; protein transport | 17q25.1 |
| COG2 | oligosaccharide biosynthetic process; protein glycosylation; intracellular protein transport; intra-Golgi vesicle-mediated transport; Golgi organization; protein transport | 1q42.2 |
| COG3 | intra-Golgi vesicle-mediated transport; retrograde vesicle-mediated transport, Golgi to ER; protein transport; protein localization to organelle; protein stabilization; protein glycosylation; ER to Golgi vesicle-mediated transport; intracellular protein transport | 13q14.13 |
| COG4 | protein transport; Golgi vesicle prefusion complex stabilization; Golgi organization; retrograde vesicle-mediated transport, Golgi to ER | 16q22.1 |
| COG5 | protein transport; intra-Golgi vesicle-mediated transport | 7q31 |
| COG6 | intra-Golgi vesicle-mediated transport; protein transport | 13q14.11 |
| COG7 | protein stabilization; retrograde vesicle-mediated transport, Golgi to ER; protein localization in Golgi apparatus; protein localization to organelle; protein glycosylation; intracellular protein transport | 16p12.2 |
| COG8 | protein transport | 16q22.1 |
| COIL | oxidation-reduction process | 17q22 |
| COL10A1 | skeletal system development | 6q21-q22 |
| COL11A1 | embryonic skeletal system morphogenesis; cartilage condensation; ossification; chondrocyte development; heart morphogenesis; proteoglycan metabolic process; cell adhesion; visual perception; sensory perception of sound; extracellular matrix organization; collagen fibril organization; inner ear morphogenesis; detection of mechanical stimulus involved in sensory perception of sound; ventricular cardiac muscle tissue morphogenesis | 1p21 |
| COL11A2 | skeletal system development; cell adhesion; sensory perception of sound; collagen fibril organization; cartilage development; palate development; soft palate development | 6p21.3 |
| COL11A2P1 | - | 6p21.32 |
| COL12A1 | collagen fibril organization; cell adhesion; skeletal system development | 6q12-q13 |
| COL13A1 | cell differentiation; cell-cell adhesion; multicellular organismal development; ossification; morphogenesis of a branching structure; endochondral ossification; cell-matrix adhesion | 10q22 |
| COL14A1 | extracellular matrix organization; cell-cell adhesion; collagen fibril organization | 8q23 |
| COL15A1 | cell differentiation; multicellular organismal development; signal transduction; cell adhesion; angiogenesis | 9q21-q22 |
| COL16A1 | cellular response to amino acid stimulus; female pregnancy; integrin-mediated signaling pathway; cell adhesion | 1p35-p34 |
| COL17A1 | cell-matrix adhesion; epidermis development; hemidesmosome assembly; cell junction assembly | 10q24.3 |
| COL18A1 | negative regulation of cell proliferation; organ morphogenesis; visual perception; cell adhesion | 21q22.3 |
| COL18A1-AS1 | - | 21q22.3 |
| COL19A1 | skeletal system development; cell adhesion; multicellular organismal development; muscle organ development; skeletal muscle tissue development; cell-cell adhesion; cell differentiation; extracellular matrix organization | 6q12-q13 |
| COL1A1 | response to inorganic substance; sensory perception of sound; visual perception; blood coagulation; response to nutrient; axon guidance; endochondral ossification; intramembranous ossification; osteoblast differentiation; blood vessel development; embryonic skeletal system development; skeletal system development; negative regulation of cell-substrate adhesion; leukocyte migration; response to cAMP; face morphogenesis; bone trabecula formation; cartilage development involved in endochondral bone morphogenesis; protein heterotrimerization; cellular response to amino acid stimulus; cellular response to mechanical stimulus; cellular response to retinoic acid; cellular response to growth factor stimulus; positive regulation of canonical Wnt receptor signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of epithelial to mesenchymal transition; protein transport; platelet activation; collagen fibril organization; positive regulation of cell migration; response to corticosteroid | 17q21.33 |
| COL1A2 | skeletal system development; Rho protein signal transduction; blood vessel development; transforming growth factor beta receptor signaling pathway; axon guidance; blood coagulation; regulation of blood pressure; platelet activation; collagen fibril organization; odontogenesis; skin morphogenesis; leukocyte migration; protein heterotrimerization; cellular response to amino acid stimulus | 7q22.1 |
| COL20A1 | cell adhesion | 20q13.33 |
| COL21A1 | cell adhesion | 6p12.3-p11.2|6p12.3-p11.2 |
| COL22A1 | cell adhesion | 8q24.3 |
| COL23A1 | protein homotrimerization | 5q35.3 |
| COL24A1 | cell adhesion | 1p22.3 |
| COL25A1 | - | 4q25 |
| COL26A1 | - | 7q22.1 |
| COL27A1 | cell adhesion | 9q32 |
| COL28A1 | cell adhesion | 7p21.3 |
| COL2A1 | sensory perception of sound; cartilage development involved in endochondral bone morphogenesis; bone development; embryonic skeletal joint morphogenesis; limb bud formation; palate development; cartilage development; negative regulation of apoptotic process; inner ear morphogenesis; notochord development; collagen fibril organization; regulation of gene expression; otic vesicle development; visual perception; central nervous system development; axon guidance; proteoglycan metabolic process; heart morphogenesis; chondrocyte differentiation; endochondral ossification; tissue homeostasis; ossification; cartilage condensation; skeletal system development | 12q13.11 |
| COL3A1 | skeletal system development; cellular response to amino acid stimulus; negative regulation of immune response; digestive tract development; skin development; fibril organization; wound healing; response to cytokine stimulus; collagen biosynthetic process; collagen fibril organization; platelet activation; peptide cross-linking; response to radiation; heart development; axon guidance; integrin-mediated signaling pathway; transforming growth factor beta receptor signaling pathway; cell-matrix adhesion; blood vessel development | 2q31 |
| COL4A1 | neuromuscular junction development; epithelial cell differentiation; cellular response to amino acid stimulus; axon guidance; angiogenesis | 13q34 |
| COL4A2 | transcription, DNA-dependent; axon guidance; negative regulation of angiogenesis; extracellular matrix organization; cellular response to transforming growth factor beta stimulus | 13q34 |
| COL4A2-AS2 | - | 13q34 |
| COL4A3 | glomerular basement membrane development; negative regulation of angiogenesis; response to glucose stimulus; negative regulation of cell proliferation; cell proliferation; blood circulation; sensory perception of sound; axon guidance; cell surface receptor signaling pathway; cell adhesion; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis | 2q36-q37 |
| COL4A3BP | ER to Golgi ceramide transport; sphingolipid biosynthetic process; response to endoplasmic reticulum stress; small molecule metabolic process; lipid homeostasis; mitochondrion morphogenesis; cell proliferation; immune response; signal transduction; endoplasmic reticulum organization; muscle contraction; lipid transport; transport; ceramide metabolic process; sphingolipid metabolic process; protein phosphorylation; heart morphogenesis; in utero embryonic development; cell morphogenesis | 5q13.3 |
| COL4A4 | axon guidance; glomerular basement membrane development | 2q35-q37 |
| COL4A5 | axon guidance | Xq22 |
| COL4A6 | cell adhesion; extracellular matrix organization; cellular response to amino acid stimulus | Xq22 |
| COL5A1 | skin development; regulation of cellular component organization; eye morphogenesis; integrin biosynthetic process; fibril organization; wound healing, spreading of epidermal cells; collagen biosynthetic process; cell migration; axon guidance; cell adhesion; heart morphogenesis; blood vessel development; collagen fibril organization | 9q34.2-q34.3 |
| COL5A1-AS1 | - | 9q34.3 |
| COL5A2 | collagen fibril organization; cellular response to amino acid stimulus; eye morphogenesis; skin development; axon guidance; skeletal system development | 2q14-q32 |
| COL5A3 | cell adhesion; skin development; collagen fibril organization; cell-matrix adhesion | 19p13.2 |
| COL6A1 | cell adhesion; axon guidance; protein heterotrimerization; cellular response to amino acid stimulus | 21q22.3 |
| COL6A2 | extracellular matrix organization; protein heterotrimerization; cell-cell adhesion; response to glucose stimulus; axon guidance | 21q22.3 |
| COL6A3 | cell adhesion; axon guidance; muscle organ development; response to glucose stimulus | 2q37 |
| COL6A4P1 | - | 3p25.1 |
| COL6A4P2 | - | 3q22.1 |
| COL6A5 | cell adhesion | 3q22.1 |
| COL6A6 | cell adhesion | 3q22.1 |
| COL7A1 | cell adhesion; epidermis development | 3p21.1 |
| COL8A1 | angiogenesis; cell adhesion; positive regulation of cell-substrate adhesion; camera-type eye morphogenesis; epithelial cell proliferation | 3q12.3 |
| COL8A2 | cell-cell adhesion; epithelial cell proliferation; camera-type eye morphogenesis; extracellular matrix organization; angiogenesis | 1p34.2 |
| COL9A1 | tissue homeostasis; chondrocyte differentiation; growth plate cartilage development; cell adhesion; axon guidance; organ morphogenesis | 6q13 |
| COL9A2 | skeletal system development; axon guidance | 1p33-p32 |
| COL9A3 | axon guidance | 20q13.3 |
| COLCA1 | - | 11q23.1 |
| COLCA2 | - | 11q23.1 |
| COLEC10 | - | 8q23-q24.1 |
| COLEC11 | developmental process; multicellular organismal development | 2p25.3 |
| COLEC12 | innate immune response; protein homooligomerization; pattern recognition receptor signaling pathway; carbohydrate mediated signaling; defense response; phagocytosis, recognition | 18pter-p11.3 |
| COLGALT1 | - | 19p13.11 |
| COLGALT2 | - | 1q25 |
| COLQ | neurotransmitter catabolic process; asymmetric protein localization; acetylcholine catabolic process in synaptic cleft | 3p25 |
| COMMD1 | negative regulation of NF-kappaB transcription factor activity; copper ion homeostasis; regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein ubiquitination | 2p15 |
| COMMD10 | - | 5q23.1 |
| COMMD2 | - | 3q25.1 |
| COMMD3 | - | 10p12.2 |
| COMMD4 | - | 15q24.2 |
| COMMD5 | cell cycle arrest | 8q24.3 |
| COMMD6 | - | 13q22 |
| COMMD7 | tumor necrosis factor-mediated signaling pathway; negative regulation of transcription, DNA-dependent; negative regulation of NF-kappaB transcription factor activity | 20q11.21 |
| COMMD8 | - | 4p12 |
| COMMD9 | - | 11p13 |
| COMP | growth plate cartilage development; apoptotic process; anti-apoptosis; cell adhesion; organ morphogenesis; limb development; skeletal system development | 19p13.1 |
| COMT | methylation; female pregnancy; synaptic transmission; xenobiotic metabolic process; response to organic cyclic compound; learning; estrogen metabolic process; positive regulation of homocysteine metabolic process; negative regulation of smooth muscle cell proliferation; multicellular organismal reproductive process; negative regulation of dopamine metabolic process; response to drug; dopamine catabolic process; neurotransmitter biosynthetic process; neurotransmitter catabolic process; response to lipopolysaccharide; response to pain; small molecule metabolic process | 22q11.21 |
| COMTD1 | - | 10q22.2 |
| COPA | cellular membrane organization; intracellular protein transport; retrograde vesicle-mediated transport, Golgi to ER; pancreatic juice secretion; vesicle-mediated transport; COPI coating of Golgi vesicle | 1q23.2 |
| COPB1 | interspecies interaction between organisms; intracellular protein transport; retrograde vesicle-mediated transport, Golgi to ER; intra-Golgi vesicle-mediated transport; cellular membrane organization; COPI coating of Golgi vesicle; vesicle-mediated transport | 11p15.2 |
| COPB2 | retrograde vesicle-mediated transport, Golgi to ER; intracellular protein transport; COPI coating of Golgi vesicle; vesicle-mediated transport; cellular membrane organization; intra-Golgi vesicle-mediated transport | 3q23 |
| COPE | cellular membrane organization; protein transport; vesicle-mediated transport; COPI coating of Golgi vesicle; intra-Golgi vesicle-mediated transport; retrograde vesicle-mediated transport, Golgi to ER | 19p13.11 |
| COPG1 | retrograde vesicle-mediated transport, Golgi to ER; cellular membrane organization; vesicle-mediated transport; COPI coating of Golgi vesicle; intracellular protein transport | 3q21.3 |
| COPG2 | vesicle-mediated transport; intracellular protein transport; intra-Golgi vesicle-mediated transport; retrograde vesicle-mediated transport, Golgi to ER | 7q32 |
| COPG2IT1 | - | 7q32 |
| COPRS | - | 17q11.2 |
| COPS2 | cullin deneddylation; signal transduction; transcription from RNA polymerase II promoter | 15q21.2 |
| COPS3 | in utero embryonic development; signal transduction; response to light stimulus; cullin deneddylation | 17p11.2 |
| COPS4 | cullin deneddylation | 4q21.22 |
| COPS5 | regulation of JNK cascade; translational initiation; translation; transcription from RNA polymerase II promoter; proteolysis; cullin deneddylation; positive regulation of transcription from RNA polymerase II promoter; regulation of cell cycle; protein deneddylation | 8q13.1 |
| COPS5P1 | - | 6q16.1 |
| COPS6 | cullin deneddylation; interspecies interaction between organisms | 7q22.1 |
| COPS7A | cullin deneddylation | 12p13.31 |
| COPS7B | cullin deneddylation | 2q37.1 |
| COPS8 | cullin deneddylation | 2q37.3 |
| COPS8P2 | - | 3p14.1 |
| COPZ1 | vesicle-mediated transport; intracellular protein transport; retrograde vesicle-mediated transport, Golgi to ER; intra-Golgi vesicle-mediated transport; cellular membrane organization; COPI coating of Golgi vesicle | 12q13.2-q13.3 |
| COPZ2 | vesicle-mediated transport; intracellular protein transport | 17q21.32 |
| COQ10A | - | 12q13.3 |
| COQ10B | - | 2q33.1 |
| COQ2 | isoprenoid biosynthetic process; glycerol metabolic process; biosynthetic process; ubiquinone biosynthetic process | 4q21.23 |
| COQ3 | metabolic process; ubiquinone biosynthetic process; glycerol metabolic process | 6q16.2 |
| COQ4 | ubiquinone biosynthetic process | 9q34.11 |
| COQ5 | ubiquinone biosynthetic process | 12q24.31 |
| COQ6 | ubiquinone biosynthetic process | 14q24.3 |
| COQ7 | response to drug; in utero embryonic development; neural tube formation; ubiquinone biosynthetic process; determination of adult lifespan; neurogenesis; age-dependent response to oxidative stress; mitochondrial ATP synthesis coupled electron transport; respiratory electron transport chain; cellular response to oxidative stress; mitochondrion morphogenesis | 16p12.3 |
| COQ9 | ubiquinone biosynthetic process | 16q21 |
| CORIN | peptide hormone processing; regulation of systemic arterial blood pressure by atrial natriuretic peptide; proteolysis | 4p13-p12 |
| CORO1A | T cell homeostasis; cell-substrate adhesion; response to cytokine stimulus; regulation of actin filament polymerization; positive regulation of T cell proliferation; uropod organization; innate immune response; leukocyte chemotaxis; positive regulation of cell migration; actin cytoskeleton organization; regulation of cell shape; actin filament organization; cellular component movement; phagocytosis; calcium ion transport; homeostasis of number of cells within a tissue; positive chemotaxis; negative regulation of actin nucleation; phagolysosome assembly | 16p11.2 |
| CORO1B | actin cytoskeleton organization | 11q13.2 |
| CORO1C | phagocytosis; signal transduction; actin cytoskeleton organization | 12q24.1 |
| CORO2A | intracellular signal transduction; actin cytoskeleton organization | 9q22.3 |
| CORO2B | actin cytoskeleton organization | 15q23 |
| CORO6 | actin cytoskeleton organization | 17q11.2 |
| CORO7 | actin cytoskeleton organization | 16p13.3 |
| COTL1 | defense response to fungus | 16q24.1 |
| COTL1P1 | - | 17p11.2 |
| COTL1P2 | - | 17p11.1 |
| COX10 | heme O biosynthetic process; cellular respiration; cytochrome complex assembly; aerobic respiration; respiratory chain complex IV assembly; heme a biosynthetic process; mitochondrial electron transport, cytochrome c to oxygen; mitochondrial fission | 17p12 |
| COX10-AS1 | - | - |
| COX11 | respiratory chain complex IV assembly; respiratory gaseous exchange | 17q22 |
| COX11P1 | - | 6p23-p22 |
| COX14 | mitochondrial respiratory chain complex IV assembly | 12q13.12 |
| COX15 | respiratory gaseous exchange; oxidation-reduction process; cellular respiration; respiratory chain complex IV assembly; mitochondrial electron transport, cytochrome c to oxygen; heme a biosynthetic process | 10q24 |
| COX16 | - | 14q24.2 |
| COX17 | generation of precursor metabolites and energy; heart development; copper ion transport; brain development | 3q13.33 |
| COX17P1 | - | 13q14.13 |
| COX18 | protein transport; respiratory chain complex IV assembly; protein insertion into mitochondrial membrane | 4q13.3 |
| COX19 | - | 7p22.3 |
| COX20 | - | 1q44 |
| COX20P2 | - | 2q37.1 |
| COX4I1 | generation of precursor metabolites and energy; response to nutrient; small molecule metabolic process; respiratory electron transport chain | 16q24.1 |
| COX4I1P2 | - | 13q14.13 |
| COX4I2 | generation of precursor metabolites and energy; cellular respiration; oxidation-reduction process | 20q11.21 |
| COX5A | small molecule metabolic process; respiratory electron transport chain | 15q24.1 |
| COX5AP1 | - | 14q22 |
| COX5AP2 | - | 14q22.1 |
| COX5B | small molecule metabolic process; respiratory electron transport chain; respiratory gaseous exchange | 2q11.2 |
| COX5BP2 | - | 6q23.3 |
| COX5BP6 | - | 13q32.3 |
| COX6A1 | small molecule metabolic process; respiratory electron transport chain; generation of precursor metabolites and energy | 12q24.2|12q24.2 |
| COX6A2 | generation of precursor metabolites and energy | 16p11.12 |
| COX6B1 | oxidation-reduction process; small molecule metabolic process; respiratory electron transport chain | 19q13.1 |
| COX6B1P2 | - | 17q21.32 |
| COX6B1P3 | - | 22q13.2 |
| COX6B1P6 | - | - |
| COX6B2 | - | 19q13.42 |
| COX6C | respiratory electron transport chain; generation of precursor metabolites and energy; small molecule metabolic process | 8q22.2 |
| COX6CP1 | - | 16p12 |
| COX6CP3 | - | 18p11.32 |
| COX6CP4 | - | 15q14 |
| COX6CP6 | - | 3p13 |
| COX7A1 | generation of precursor metabolites and energy | 19q13.1 |
| COX7A2 | - | 6q12 |
| COX7A2L | small molecule metabolic process; respiratory electron transport chain | 2p21 |
| COX7A2P2 | - | 4q22.3 |
| COX7B | respiratory electron transport chain; small molecule metabolic process | Xq21.1 |
| COX7B2 | - | 4p12 |
| COX7BP1 | - | 22q13 |
| COX7C | generation of precursor metabolites and energy; respiratory electron transport chain; small molecule metabolic process | 5q14 |
| COX8A | respiratory electron transport chain; small molecule metabolic process; generation of precursor metabolites and energy | 11q12-q13 |
| CP | transmembrane transport; ion transport; cellular iron ion homeostasis; copper ion transport | 3q23-q25 |
| CPA1 | proteolysis | 7q32 |
| CPA2 | vacuolar protein catabolic process; proteolysis | 7q32 |
| CPA3 | proteolysis | 3q24 |
| CPA4 | histone acetylation; proteolysis | 7q32 |
| CPA5 | metabolic process; proteolysis | 7q32 |
| CPA6 | proteolysis | 8q13.2 |
| CPAMD8 | - | 19p13.11 |
| CPB1 | proteolysis | 3q24 |
| CPB2 | proteolysis; blood coagulation; metabolic process; response to heat; response to drug; negative regulation of fibrinolysis | 13q14.11 |
| CPB2-AS1 | - | - |
| CPD | proteolysis; cellular response to interleukin-2 | 17q11.2 |
| CPE | insulin processing; cardiac left ventricle morphogenesis; protein modification process; neuropeptide signaling pathway; metabolic process; protein localization in membrane; proteolysis | 4q32.3 |
| CPEB1 | regulation of translation; mRNA processing | 15q25.2 |
| CPEB2 | regulation of translation | 4p15.33 |
| CPEB3 | - | 10q23.32 |
| CPEB4 | - | 5q21 |
| CPED1 | - | 7q31.31 |
| CPHL1P | - | 3q25.1 |
| CPLX1 | transmembrane transport; insulin secretion; synaptic vesicle exocytosis; glutamate secretion; neurotransmitter secretion; synaptic transmission; exocytosis | 4p16.3 |
| CPLX2 | vesicle docking involved in exocytosis; cell differentiation; positive regulation of synaptic plasticity; mast cell degranulation; synaptic vesicle exocytosis; nervous system development; neurotransmitter transport | 5q35.2 |
| CPLX4 | regulation of neurotransmitter secretion; exocytosis; neurotransmitter transport | 18q21.32 |
| CPM | proteolysis; anatomical structure morphogenesis | 12q14.3 |
| CPN1 | proteolysis; metabolic process; response to glucocorticoid stimulus | 10q24.2 |
| CPN2 | protein stabilization; regulation of catalytic activity | 3q29 |
| CPNE1 | lipid metabolic process; vesicle-mediated transport | 20q11.22 |
| CPNE2 | - | 16q13 |
| CPNE3 | lipid metabolic process; vesicle-mediated transport | 8q21.3 |
| CPNE4 | - | 3q22.1 |
| CPNE5 | - | 6p21.1 |
| CPNE6 | vesicle-mediated transport; lipid metabolic process; synaptic transmission; nervous system development | 14q11.2 |
| CPNE7 | lipid metabolic process; transport | 16q24.3 |
| CPNE8 | - | 12q12 |
| CPNE9 | - | 3p25.3 |
| CPO | proteolysis | 2q33.3 |
| CPOX | response to iron ion; response to lead ion; response to insecticide; small molecule metabolic process; response to methylmercury; response to arsenic-containing substance; heme biosynthetic process; protoporphyrinogen IX biosynthetic process; porphyrin-containing compound metabolic process | 3q12 |
| CPP | - | 8q21.3 |
| CPPED1 | - | 16p13.12 |
| CPQ | proteolysis; peptide metabolic process; tissue regeneration | 8q22.2 |
| CPS1 | cellular response to oleic acid; response to dexamethasone stimulus; cellular response to glucagon stimulus; cellular response to cAMP; glycogen catabolic process; response to amino acid stimulus; small molecule metabolic process; cellular response to fibroblast growth factor stimulus; positive regulation of vasodilation; nitric oxide metabolic process; response to steroid hormone stimulus; homocysteine metabolic process; anion homeostasis; response to growth hormone stimulus; hepatocyte differentiation; urea cycle; carbamoyl phosphate biosynthetic process; response to starvation; glutamine catabolic process; nitrogen compound metabolic process; midgut development; response to toxin; response to zinc ion; citrulline biosynthetic process; triglyceride catabolic process; response to food; response to lipopolysaccharide; cellular nitrogen compound metabolic process; response to drug | 2q35 |
| CPS1-IT1 | - | 2q34 |
| CPSF1 | nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; mRNA 3'-end processing; gene expression; RNA splicing; mRNA export from nucleus; mRNA processing; mRNA cleavage; mRNA polyadenylation; termination of RNA polymerase II transcription | 8q24.23 |
| CPSF1P1 | - | 22q12.3 |
| CPSF2 | RNA splicing; gene expression; mRNA export from nucleus; histone mRNA 3'-end processing; mRNA processing; termination of RNA polymerase II transcription; nuclear mRNA splicing, via spliceosome; mRNA 3'-end processing; transcription from RNA polymerase II promoter | 14q31.1 |
| CPSF3 | mRNA export from nucleus; termination of RNA polymerase II transcription; mRNA polyadenylation; mRNA cleavage; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; mRNA 3'-end processing; RNA splicing; gene expression; histone mRNA 3'-end processing; mRNA processing | 2p25.1 |
| CPSF3L | - | 1p36.33 |
| CPSF4 | modification by virus of host mRNA processing; interspecies interaction between organisms; viral infectious cycle; modulation by virus of host cellular process; virus-host interaction; mRNA processing | 7q22.1 |
| CPSF4L | - | 17q25.1 |
| CPSF6 | mRNA polyadenylation; mRNA processing; protein tetramerization | 12q15 |
| CPSF7 | protein tetramerization; mRNA 3'-end processing; gene expression; RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription | 11q12.2 |
| CPT1A | long-chain fatty acid metabolic process; protein homooligomerization; regulation of insulin secretion; regulation of fatty acid oxidation; small molecule metabolic process; cellular lipid metabolic process; eating behavior; response to drug; positive regulation of fatty acid beta-oxidation; response to organic cyclic compound; carnitine shuttle; transport; triglyceride metabolic process; fatty acid beta-oxidation; glucose metabolic process | 11q13.2 |
| CPT1C | fatty acid metabolic process; lipid metabolic process; carnitine metabolic process | 19q13.33 |
| CPT2 | regulation of fatty acid oxidation; fatty acid metabolic process; fatty acid beta-oxidation; transport; carnitine shuttle; cellular lipid metabolic process; small molecule metabolic process | 1p32 |
| CPTP | - | 1p36.33 |
| CPVL | proteolysis | 7p15.1 |
| CPXCR1 | - | Xq21.3 |
| CPXM1 | cell adhesion; proteolysis | 20p13 |
| CPXM2 | cell adhesion; proteolysis | 10q26.13 |
| CPZ | proteolysis; Wnt receptor signaling pathway | 4p16.1 |
| CR1 | positive regulation of serine-type endopeptidase activity; negative regulation of serine-type endopeptidase activity; negative regulation of complement activation, classical pathway; negative regulation of complement activation, alternative pathway; innate immune response | 1q32 |
| CR1L | negative regulation of complement activation | 1q32.1 |
| CR2 | immune response; complement activation, classical pathway; complement receptor mediated signaling pathway; innate immune response | 1q32 |
| CRABP1 | signal transduction; multicellular organismal development | 15q24 |
| CRABP2 | retinoic acid metabolic process; regulation of transcription, DNA-dependent; signal transduction; epidermis development; embryonic forelimb morphogenesis | 1q21.3 |
| CRACR2A | positive regulation of calcium ion transport; activation of store-operated calcium channel activity; ion transport; store-operated calcium entry | 12p13.32 |
| CRACR2B | store-operated calcium entry | 11p15.5 |
| CRADD | regulation of apoptotic process; cellular response to mechanical stimulus; induction of apoptosis via death domain receptors; signal transduction; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; induction of apoptosis | 12q21.33-q23.1 |
| CRAMP1 | - | 16p13.3 |
| CRAT | small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; transport; fatty acid metabolic process | 9q34.1 |
| CRB1 | establishment or maintenance of cell polarity; cell-cell signaling; cellular membrane organization; eye photoreceptor cell development | 1q31-q32.1 |
| CRB2 | - | 9q33.3 |
| CRB3 | tight junction assembly; cell junction assembly; cell-cell junction organization; protein localization in plasma membrane | 19p13.3 |
| CRBN | proteolysis; protein ubiquitination; positive regulation of protein homodimerization activity; proteasomal ubiquitin-dependent protein catabolic process; negative regulation of ion transmembrane transport; negative regulation of protein homooligomerization | 3p26.2 |
| CRCP | transcription from RNA polymerase III promoter; innate immune response; cellular metabolic process; response to virus; acrosome reaction; neuropeptide signaling pathway; inflammatory response; response to stress | 7q11.21 |
| CRCT1 | - | 1q21 |
| CREB1 | TRIF-dependent toll-like receptor signaling pathway; positive regulation of multicellular organism growth; response to drug; regulation of circadian rhythm; cell differentiation; regulation of apoptotic process; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; positive regulation of transforming growth factor beta3 production; synaptic transmission; interspecies interaction between organisms; innate immune response; positive regulation of fat cell differentiation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of hormone secretion; positive regulation of lipid biosynthetic process; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; protein stabilization; stress-activated MAPK cascade; negative regulation of transcription by competitive promoter binding; cellular respon | 2q34 |
| CREB3 | regulation of cell proliferation; interspecies interaction between organisms; negative regulation of cell cycle; positive regulation of transcription, DNA-dependent; induction of positive chemotaxis; positive regulation of calcium ion transport; positive regulation of cell migration; reactivation of latent virus; chemotaxis; transcription, DNA-dependent | 9p13.3 |
| CREB3L1 | response to unfolded protein | 11p11.2 |
| CREB3L2 | chondrocyte differentiation; cartilage development; positive regulation of transcription, DNA-dependent; response to endoplasmic reticulum stress; response to unfolded protein; ER to Golgi vesicle-mediated transport | 7q34 |
| CREB3L3 | response to unfolded protein | 19p13.3 |
| CREB3L4 | spermatogenesis; positive regulation of transcription from RNA polymerase II promoter; response to unfolded protein | 1q21.3 |
| CREB5 | transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent | 7p15.1 |
| CREBBP | negative regulation of transcription from RNA polymerase II promoter; protein complex assembly; regulation of transcription, DNA-dependent; response to hypoxia; histone acetylation; signal transduction; Notch signaling pathway; cell proliferation; regulation of smoothened signaling pathway; gene expression; germ-line stem cell maintenance; regulation of S phase; homeostatic process; embryonic digit morphogenesis; cellular lipid metabolic process; small molecule metabolic process; interspecies interaction between organisms; innate immune response; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; N-terminal peptidyl-lysine acetylation | 16p13.3 |
| CREBL2 | positive regulation of transcription, DNA-dependent; protein stabilization; positive regulation of lipid biosynthetic process; positive regulation of glucose import; positive regulation of fat cell differentiation; cell differentiation; transcription, DNA-dependent; signal transduction; cell cycle; regulation of transcription, DNA-dependent; positive regulation of peptidyl-serine phosphorylation | 12p13 |
| CREBRF | - | 5q35.1 |
| CREBZF | transcription, DNA-dependent; response to virus; negative regulation of gene expression, epigenetic; negative regulation of transcription, DNA-dependent; regulation of sequence-specific DNA binding transcription factor activity | 11q14 |
| CREG1 | regulation of growth; regulation of transcription from RNA polymerase II promoter; multicellular organismal development; cell proliferation | 1q24 |
| CREG2 | - | 2q11.2 |
| CRELD1 | endocardial cushion development; cardiac septum development | 3p25.3 |
| CRELD2 | - | 22q13.33 |
| CREM | cell differentiation; spermatogenesis; multicellular organismal development; signal transduction; regulation of transcription, DNA-dependent | 10p11.21 |
| CRH | locomotory exploration behavior; regulation of N-methyl-D-aspartate selective glutamate receptor activity; positive regulation of cortisol secretion; neuroprotection; negative regulation of circadian sleep/wake cycle, REM sleep; adrenal gland development; lung development; positive regulation of circadian sleep/wake cycle, wakefulness; induction of apoptosis by hormones; feeding behavior; learning or memory; long-term memory; glucocorticoid biosynthetic process; response to stress; inflammatory response; signal transduction; synaptic transmission; female pregnancy; parturition; synaptic transmission, dopaminergic | 8q13 |
| CRHBP | behavioral response to ethanol; regulation of behavior; regulation of corticotropin secretion; negative regulation of corticotropin secretion; cellular response to calcium ion; cellular response to cocaine; cellular response to cAMP; cellular response to tumor necrosis factor; cellular response to estrogen stimulus; cellular response to estradiol stimulus; cellular response to gonadotropin-releasing hormone; negative regulation of corticotropin-releasing hormone receptor activity; regulation of N-methyl-D-aspartate selective glutamate receptor activity; hormone metabolic process; synaptic transmission, dopaminergic; maternal aggressive behavior; inflammatory response; signal transduction; female pregnancy; behavior; hormone-mediated signaling pathway; cellular response to stress; cellular response to drug; cellular response to potassium ion; regulated secretory pathway; learning or memory | 5q11.2-q13.3 |
| CRHR1 | memory; visual learning; epithelial cell differentiation; negative regulation of appetite; eating behavior; positive regulation of mast cell degranulation; activation of adenylate cyclase activity by G-protein signaling pathway; neuroprotection; behavioral response to pain; long-term synaptic potentiation; cellular response to corticotropin-releasing hormone stimulus; female pregnancy; parturition; response to hypoxia; immune response; G-protein coupled receptor signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of adenylate cyclase activity; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; elevation of cytosolic calcium ion concentration; neuropeptide signaling pathway | 17q12-q22 |
| CRHR1-IT1 | - | 17q21.31 |
| CRHR2 | G-protein signaling, coupled to cAMP nucleotide second messenger; cellular response to corticotropin-releasing hormone stimulus | 7p14.3 |
| CRIM1 | nervous system development; insulin-like growth factor receptor signaling pathway; regulation of cell growth | 2p21 |
| CRIP1 | prostate gland stromal morphogenesis; cellular response to UV-B; cellular response to antibiotic; regulation of gene expression; response to zinc ion; cell proliferation; apoptotic process; heart development; immune response; response to organic substance | 14q32.33 |
| CRIP1P4 | - | 22q11.2 |
| CRIP2 | positive regulation of cell proliferation; hemopoiesis | 14q32.3 |
| CRIP3 | - | 6p21.1 |
| CRIPAK | regulation of cytoskeleton organization; response to estrogen stimulus; negative regulation of protein kinase activity; negative regulation of intracellular estrogen receptor signaling pathway | 4p16.3 |
| CRIPT | cytoplasmic microtubule organization; establishment of protein localization | 2p21 |
| CRISP1 | fusion of sperm to egg plasma membrane | 6p21.3 |
| CRISP2 | - | 6p12.3 |
| CRISP3 | defense response; innate immune response | 6p12.3 |
| CRISPLD1 | - | 8q21.11 |
| CRISPLD2 | - | 16q24.1 |
| CRK | platelet activation; ephrin receptor signaling pathway; nerve growth factor receptor signaling pathway; regulation of Rac protein signal transduction; regulation of actin cytoskeleton organization; regulation of Rho GTPase activity; insulin receptor signaling pathway; blood coagulation; regulation of transcription from RNA polymerase II promoter; activation of MAPKK activity | 17p13.3 |
| CRKL | parathyroid gland development; JNK cascade; thymus development; intracellular signal transduction; anterior/posterior pattern specification; heart development; pattern specification process; Ras protein signal transduction; blood vessel development; organ morphogenesis | 22q11.21 |
| CRLF1 | ureteric bud development; positive regulation of cell proliferation; positive regulation of tyrosine phosphorylation of Stat3 protein; negative regulation of neuron apoptosis | 19p12 |
| CRLF2 | - | Xp22.3; Yp11.3 |
| CRLF3 | positive regulation of cell cycle arrest; positive regulation of JAK-STAT cascade; negative regulation of cell growth; positive regulation of transcription from RNA polymerase II promoter; negative regulation of S phase of mitotic cell cycle; positive regulation of transcription, DNA-dependent | 17q11.2 |
| CRLS1 | phospholipid biosynthetic process | 20p13-p12.3 |
| CRMP1 | nucleobase-containing compound metabolic process; pyrimidine base catabolic process; nervous system development; axon guidance | 4p16.1 |
| CRNDE | - | 16q12.2 |
| CRNKL1 | nuclear mRNA splicing, via spliceosome; RNA splicing; RNA processing; spliceosome assembly | 20p11.2 |
| CROCC | cell cycle; protein localization; cell projection organization; centrosome organization | 1p36.13 |
| CROCCP1 | - | Xq26.3 |
| CROCCP2 | - | 1p36.13 |
| CROCCP3 | - | 1p36.13 |
| CROCCP4 | - | - |
| CROT | fatty acid beta-oxidation using acyl-CoA oxidase; small molecule metabolic process; transport; fatty acid beta-oxidation; fatty acid metabolic process; cellular lipid metabolic process | 7q21.1 |
| CRP | negative regulation of lipid storage; protein polymerization; negative regulation of macrophage derived foam cell differentiation; response to lead ion; complement activation, classical pathway; inflammatory response; acute-phase response; response to hypoxia; opsonization | 1q23.2 |
| CRTAC1 | - | 10q22 |
| CRTAM | positive regulation of cytokine secretion; T cell mediated cytotoxicity; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; detection of stimulus; activated T cell proliferation; regulation of immune response; detection of tumor cell; positive regulation of natural killer cell mediated cytotoxicity; cell recognition | 11q24.1 |
| CRTAP | spermatogenesis | 3p22.3 |
| CRTC1 | regulation of transcription, DNA-dependent; positive regulation of CREB transcription factor activity; interspecies interaction between organisms; positive regulation of transcription from RNA polymerase II promoter; protein homotetramerization | 19p13.11 |
| CRTC2 | protein homotetramerization; gluconeogenesis; regulation of transcription, DNA-dependent; interspecies interaction between organisms; glucose homeostasis; positive regulation of CREB transcription factor activity | 1q21.3 |
| CRTC3 | protein homotetramerization; interspecies interaction between organisms; positive regulation of CREB transcription factor activity; regulation of transcription, DNA-dependent | 15q26.1 |
| CRX | positive regulation of transcription from RNA polymerase II promoter; retina development in camera-type eye; response to stimulus; organ morphogenesis; visual perception; multicellular organismal development; regulation of transcription, DNA-dependent | 19q13.3 |
| CRY1 | negative regulation of transcription from RNA polymerase II promoter; DNA repair; regulation of transcription, DNA-dependent; blue light signaling pathway; protein-chromophore linkage; regulation of circadian rhythm; response to stimulus | 12q23-q24.1 |
| CRY2 | negative regulation of transcription from RNA polymerase II promoter; photoreactive repair; DNA repair; regulation of transcription, DNA-dependent; protein import into nucleus; blue light signaling pathway; protein-chromophore linkage; regulation of circadian rhythm; response to stimulus | 11p11.2 |
| CRYAB | protein folding; protein homooligomerization; negative regulation of intracellular transport; muscle contraction; anti-apoptosis | 11q22.3-q23.1 |
| CRYBA2 | - | 2q35 |
| CRYBA4 | visual perception; camera-type eye development | 22q12.1 |
| CRYBB1 | visual perception | 22q12.1 |
| CRYBB2 | visual perception; camera-type eye development; response to stimulus | 22q11.23 |
| CRYBB2P1 | - | 22q11.2-q12.1 |
| CRYBB3 | visual perception | 22q11.23 |
| CRYBG3 | - | 3q11.2 |
| CRYGA | lens development in camera-type eye; visual perception; eye development | 2q34 |
| CRYGFP | - | 2q34 |
| CRYGGP | - | 2p16.3 |
| CRYGS | morphogenesis of an epithelium; lens development in camera-type eye | 3q27.3 |
| CRYL1 | fatty acid metabolic process | 13q12.11 |
| CRYM | sensory perception of sound; thyroid hormone transport; negative regulation of transcription from RNA polymerase II promoter | 16p12.2 |
| CRYM-AS1 | - | 16p12.2 |
| CRYZ | visual perception; xenobiotic catabolic process; protein homotetramerization | 1p31.1 |
| CRYZL1 | quinone cofactor metabolic process | 21q21.3 |
| CS | small molecule metabolic process; cellular carbohydrate metabolic process; citrate metabolic process; tricarboxylic acid cycle; acetyl-CoA metabolic process; oxaloacetate metabolic process; carbohydrate metabolic process | 12q13.2 |
| CSAD | sulfur amino acid metabolic process; sulfur amino acid catabolic process; carboxylic acid metabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 12q13.11-q14.3 |
| CSAG1 | - | Xq28 |
| CSAG3 | - | Xq28 |
| CSAG4 | - | Xq28 |
| CSDC2 | mRNA processing; histone mRNA 3'-end processing; regulation of transcription, DNA-dependent | 22q13.2 |
| CSDE1 | male gonad development; regulation of transcription, DNA-dependent | 1p22 |
| CSE1L | intracellular protein transport; apoptotic process; cell proliferation | 20q13 |
| CSF1 | positive regulation of multicellular organism growth; monocyte activation; odontogenesis; positive regulation of odontogenesis of dentin-containing tooth; positive regulation of macrophage differentiation; positive regulation of monocyte differentiation; positive regulation of osteoclast differentiation; positive regulation of protein kinase activity; positive regulation of Ras protein signal transduction; homeostasis of number of cells within a tissue; branching involved in mammary gland duct morphogenesis; mammary gland fat development; mammary duct terminal end bud growth; innate immune response; positive regulation of cellular protein metabolic process; positive regulation of cell-matrix adhesion; positive regulation of mononuclear cell proliferation; developmental process involved in reproduction; inflammatory response; cell proliferation; positive regulation of cell proliferation; positive regulation of gene expression; regulation of macrophage derived foam cell differentiation; hemopoiesis; cell differ | 1p13.3 |
| CSF1R | positive regulation of tyrosine phosphorylation of Stat3 protein; innate immune response; regulation of bone resorption; cell-cell junction maintenance; phosphatidylinositol metabolic process; protein autophosphorylation; phosphatidylinositol-mediated signaling; mammary gland duct morphogenesis; positive regulation of protein tyrosine kinase activity; positive regulation of ERK1 and ERK2 cascade; cellular response to cytokine stimulus; positive regulation of protein serine/threonine kinase activity; positive regulation of chemokine secretion; positive regulation of cell motility; regulation of actin cytoskeleton reorganization; macrophage differentiation; ruffle organization; positive regulation of protein phosphorylation; inflammatory response; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; multicellular organismal development; cell proliferation; positive regulation of cell proliferation; regulation of cell shape; peptidyl-tyrosine phosphorylation; cytokine-mediated s | 5q32 |
| CSF2 | positive regulation of cell proliferation; dendritic cell differentiation; positive regulation of podosome assembly; negative regulation of cytolysis; positive regulation of survival gene product expression; positive regulation of DNA replication; negative regulation of apoptotic process; positive regulation of tyrosine phosphorylation of Stat5 protein; myeloid dendritic cell differentiation; embryonic placenta development; immune response; positive regulation of gene expression; positive regulation of macrophage derived foam cell differentiation; positive regulation of interleukin-23 production; epithelial fluid transport | 5q31.1 |
| CSF2RA | - | Xp22.32 and Yp11.3 |
| CSF2RB | signal transduction; respiratory gaseous exchange; cellular response to interleukin-3; interleukin-5-mediated signaling pathway | 22q13.1 |
| CSF3 | immune response; multicellular organismal development; positive regulation of cell proliferation; cytokine-mediated signaling pathway; granulocyte differentiation | 17q11.2-q12 |
| CSF3R | defense response; cell adhesion; signal transduction | 1p35-p34.3 |
| CSGALNACT1 | chondroitin sulfate biosynthetic process; cell proliferation; cell recognition; nervous system development; anatomical structure morphogenesis; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; UDP-N-acetylgalactosamine metabolic process; proteoglycan biosynthetic process; extracellular matrix organization; chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; heparin biosynthetic process; UDP-glucuronate metabolic process; chondroitin sulfate proteoglycan biosynthetic process; dermatan sulfate proteoglycan biosynthetic process | 8p21.3 |
| CSGALNACT2 | dermatan sulfate proteoglycan biosynthetic process; proteoglycan biosynthetic process; chondroitin sulfate proteoglycan biosynthetic process; dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | 10q11.21 |
| CSH1 | JAK-STAT cascade involved in growth hormone signaling pathway; signal transduction; female pregnancy | 17q24.2 |
| CSH2 | - | 17q24.2 |
| CSHL1 | - | 17q24.2 |
| CSK | protein phosphorylation; epidermal growth factor receptor signaling pathway; blood coagulation; negative regulation of cell proliferation; platelet activation; T cell costimulation; peptidyl-tyrosine dephosphorylation; T cell receptor signaling pathway | 15q24.1 |
| CSMD1 | - | 8p23.2 |
| CSMD2 | - | 1p34.3 |
| CSMD3 | - | 8q23.3 |
| CSN1S1 | - | 4q21.1 |
| CSN1S2AP | - | 4q13.3 |
| CSN1S2BP | - | 4q13.3 |
| CSN3 | lactation | 4q21.1 |
| CSNK1A1 | protein phosphorylation; cell cycle; mitosis; signal transduction; cell surface receptor signaling pathway; Wnt receptor signaling pathway; cell division | 5q32 |
| CSNK1A1L | Wnt receptor signaling pathway | 13q13.3 |
| CSNK1A1P1 | - | 15q14 |
| CSNK1D | G2/M transition of mitotic cell cycle; mitotic cell cycle; DNA repair; positive regulation of protein phosphorylation; protein phosphorylation; signal transduction; Wnt receptor signaling pathway; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; circadian regulation of gene expression; rhythmic process; spindle assembly; positive regulation of canonical Wnt receptor signaling pathway; regulation of circadian rhythm | 17q25 |
| CSNK1E | positive regulation of canonical Wnt receptor signaling pathway; cellular protein localization; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of Wnt receptor signaling pathway; signal transduction; protein phosphorylation; DNA repair; mitotic cell cycle; G2/M transition of mitotic cell cycle | 22q13.1 |
| CSNK1G1 | Wnt receptor signaling pathway | 15q22.1-q22.31 |
| CSNK1G2 | sphingolipid metabolic process; protein phosphorylation; signal transduction; Wnt receptor signaling pathway; sphingolipid biosynthetic process; small molecule metabolic process; protein autophosphorylation | 19p13.3 |
| CSNK1G3 | protein modification process; protein phosphorylation; signal transduction; Wnt receptor signaling pathway | 5q23 |
| CSNK2A1 | axon guidance; mitotic cell cycle spindle checkpoint; chaperone-mediated protein folding; regulation of catalytic activity; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of Wnt receptor signaling pathway; regulation of transcription, DNA-dependent; protein phosphorylation; protein autophosphorylation; cell cycle; signal transduction | 20p13 |
| CSNK2A2 | regulation of transcription, DNA-dependent; apoptotic process; axon guidance; Wnt receptor signaling pathway; regulation of cell cycle; mitotic cell cycle spindle checkpoint | 16q21 |
| CSNK2B | negative regulation of cell proliferation; regulation of DNA binding; cellular protein complex assembly; adiponectin-mediated signaling pathway; Wnt receptor signaling pathway; axon guidance; signal transduction | 6p21.3 |
| CSPG4 | neuron remodeling; positive regulation of peptidyl-tyrosine phosphorylation; tissue remodeling; neuron fate commitment; intracellular signal transduction; cell differentiation; multicellular organismal development; angiogenesis | 15q24.2 |
| CSPG4P11 | - | - |
| CSPG4P2Y | - | Yq11.23 |
| CSPG4P5 | - | 15q25.2 |
| CSPG5 | multicellular organismal development; nervous system development; cell differentiation; regulation of growth; intracellular transport; regulation of synaptic transmission | 3p21.3 |
| CSPP1 | positive regulation of cell cycle cytokinesis; positive regulation of cell division | 8q13.2 |
| CSRNP1 | palate development; apoptotic process; post-embryonic development; face morphogenesis; positive regulation of transcription from RNA polymerase II promoter; platelet-derived growth factor receptor signaling pathway; skeletal system morphogenesis | 3p22 |
| CSRNP2 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of phosphatase activity; apoptotic process | 12q13.11-q13.12 |
| CSRNP3 | negative regulation of phosphatase activity; positive regulation of apoptotic process; positive regulation of transcription from RNA polymerase II promoter | 2q24.3 |
| CSRP1 | - | 1q32 |
| CSRP2 | multicellular organismal development; cell differentiation; myoblast differentiation | 12q21.1 |
| CSRP2BP | histone H3 acetylation; cell cycle process; embryo development | 20p11.23 |
| CSRP3 | cardiac muscle tissue development; cell differentiation; skeletal muscle tissue development; muscle organ development; multicellular organismal development; cellular calcium ion homeostasis; regulation of the force of heart contraction; blood vessel remodeling | 11p15.1 |
| CST1 | - | 20p11.21 |
| CST13P | - | 20p11.21 |
| CST2 | - | 20p11.21 |
| CST2P1 | - | 20p11.21 |
| CST3 | eye development; response to estradiol stimulus; regulation of tissue remodeling; response to hypoxia; cell activation; apoptotic process; brain development; cellular response to oxidative stress; response to drug; circadian sleep/wake cycle, REM sleep; regulation of programmed cell death; fibril organization; positive regulation of DNA replication; response to axon injury; response to stimulus; Sertoli cell development; negative regulation of elastin catabolic process; negative regulation of blood vessel remodeling; negative regulation of cell death; cellular response to hydrogen peroxide; defense response; negative regulation of endopeptidase activity; positive regulation of cell proliferation; response to organic cyclic compound; embryo implantation; salivary gland development; male gonad development; response to toxin; response to carbohydrate stimulus; negative regulation of peptidase activity; negative regulation of histolysis; negative regulation of extracellular matrix disassembly; response to nutrien | 20p11.21 |
| CST4 | - | 20p11.21 |
| CST6 | epidermis development; anatomical structure morphogenesis | 11q13 |
| CST7 | negative regulation of endopeptidase activity; immune response | 20p11.21 |
| CST8 | - | 20p11.21 |
| CSTA | keratinocyte differentiation; negative regulation of peptidase activity; cell-cell adhesion; peptide cross-linking | 3q21 |
| CSTB | adult locomotory behavior; negative regulation of peptidase activity; negative regulation of endopeptidase activity; regulation of apoptotic process | 21q22.3 |
| CSTF1 | nuclear mRNA splicing, via spliceosome; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; mRNA cleavage; RNA processing; mRNA processing; RNA splicing; gene expression; mRNA 3'-end processing; mRNA polyadenylation | 20q13.2 |
| CSTF2 | transcription from RNA polymerase II promoter; mRNA 3'-end processing; gene expression; RNA splicing; mRNA processing; mRNA cleavage; mRNA polyadenylation; termination of RNA polymerase II transcription; nuclear mRNA splicing, via spliceosome | Xq22.1 |
| CSTF2T | mRNA processing | 10q11 |
| CSTF3 | mRNA 3'-end processing; gene expression; RNA splicing; mRNA processing; RNA processing; mRNA cleavage; mRNA polyadenylation; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome | 11p13 |
| CSTF3-AS1 | - | 11p13 |
| CSTL1 | - | 20p11.21 |
| CT45A5 | - | Xq26.3 |
| CT47B1 | - | Xq24 |
| CT55 | - | Xq26.3 |
| CT62 | - | 15q23 |
| CT83 | - | Xq23 |
| CTAG1A | - | Xq28 |
| CTAG2 | - | Xq28 |
| CTAGE1 | - | 18p11.2 |
| CTAGE11P | - | 13q22.2 |
| CTAGE12P | - | 9p21.2 |
| CTAGE3P | - | 13q14.3 |
| CTAGE4 | - | 7q35 |
| CTAGE5 | positive regulation of catalytic activity | 14q13.3 |
| CTAGE6 | - | 7q35 |
| CTAGE9 | - | 6q23.2 |
| CTBP1 | oxidation-reduction process; negative regulation of transcription from RNA polymerase II promoter; protein phosphorylation; negative regulation of cell proliferation; viral genome replication; cell differentiation; positive regulation of histone deacetylation; regulation of transcription by chromatin organization; negative regulation of histone acetylation; interspecies interaction between organisms; negative regulation of transcription, DNA-dependent; white fat cell differentiation; regulation of cell cycle; negative regulation of histone H4 acetylation | 4p16 |
| CTBP1-AS2 | - | 4p16.3 |
| CTBP2 | viral genome replication; negative regulation of cell proliferation; cell differentiation; negative regulation of transcription, DNA-dependent; oxidation-reduction process; white fat cell differentiation | 10q26.13 |
| CTBP2P2 | - | 10q23.33 |
| CTBP2P3 | - | 18q21.32 |
| CTBP2P4 | - | 5q15 |
| CTBP2P5 | - | 2p16.3 |
| CTBP2P7 | - | 19q13.12 |
| CTBS | carbohydrate metabolic process; chitin catabolic process; oligosaccharide catabolic process | 1p22 |
| CTC-338M12.4 | - | 5q35.3 |
| CTC1 | telomere maintenance; positive regulation of DNA replication | 17p13.1 |
| CTCF | regulation of gene expression by genetic imprinting; chromosome segregation; maintenance of DNA methylation; positive regulation of gene expression; chromatin modification; nucleosome positioning; regulation of histone methylation; regulation of histone acetylation; regulation of gene expression, epigenetic; regulation of molecular function, epigenetic; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; regulation of centromeric sister chromatid cohesion | 16q21-q22.3 |
| CTCFL | histone methylation; DNA methylation involved in gamete generation; chromatin modification; positive regulation of gene expression; cell cycle; regulation of gene expression by genetic imprinting; positive regulation of transcription, DNA-dependent; regulation of histone H3-K4 methylation | 20q13.31 |
| CTD-2194D22.4 | - | 5p15.33 |
| CTD-2201I18.1 | - | 5q14.1 |
| CTDNEP1 | protein dephosphorylation; protein localization to nucleus; positive regulation of triglyceride biosynthetic process; nuclear envelope organization | 17p13 |
| CTDP1 | positive regulation of viral transcription; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; protein dephosphorylation; gene expression; viral reproduction | 18q23 |
| CTDSP1 | negative regulation of neuron differentiation; protein dephosphorylation; regulation of transcription from RNA polymerase II promoter; negative regulation of neurogenesis | 2q35 |
| CTDSP2 | activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response; protein dephosphorylation | 12q14.1 |
| CTDSPL | - | 3p21.3 |
| CTDSPL2 | - | 15q15.3-q21.1 |
| CTF1 | neuron development; cell-cell signaling; nervous system development; muscle organ development; cell proliferation; positive regulation of cell proliferation; leukemia inhibitory factor signaling pathway | 16p11.2 |
| CTGF | positive regulation of cell death; response to fatty acid; positive regulation of ERK1 and ERK2 cascade; response to organic cyclic compound; small molecule metabolic process; cellular lipid metabolic process; response to peptide hormone stimulus; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; response to amino acid stimulus; intracellular signal transduction; response to anoxia; positive regulation of collagen biosynthetic process; response to estradiol stimulus; lung development; extracellular matrix constituent secretion; positive regulation of gene expression; organ senescence; response to glucose stimulus; response to wounding; epidermis development; positive regulation of cell proliferation; cell adhesion; DNA replication; positive regulation of protein phosphorylation; regulation of cell growth; positive regulation of JNK cascade; positive regulation of cell activation; response to mineralocorticoid stimulus; positive regulation of stress fiber assembly; cyto | 6q23.1 |
| CTGLF10P | - | 10q11.22 |
| CTGLF11P | regulation of ARF GTPase activity | 10q11.22 |
| CTGLF12P | - | 10q11.22 |
| CTGLF9P | - | 10q11.22 |
| CTH | negative regulation of cell growth; sulfur amino acid metabolic process; sulfur amino acid catabolic process; cysteine metabolic process; glutathione metabolic process; negative regulation of cell proliferation; cellular amino acid biosynthetic process; protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine; cysteine biosynthetic process; transsulfuration; cellular nitrogen compound metabolic process; small molecule metabolic process; protein homotetramerization; hydrogen sulfide biosynthetic process | 1p31.1 |
| CTHRC1 | establishment of planar polarity involved in neural tube closure; cell migration; positive regulation of protein binding; Wnt receptor signaling pathway, planar cell polarity pathway; inner ear receptor stereocilium organization; negative regulation of canonical Wnt receptor signaling pathway; cochlea morphogenesis | 8q22.3 |
| CTIF | regulation of translational initiation; RNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 18q21.1 |
| CTLA4 | immune response; response to DNA damage stimulus; negative regulation of B cell proliferation; T cell costimulation; positive regulation of apoptotic process; negative regulation of regulatory T cell differentiation; B cell receptor signaling pathway | 2q33 |
| CTNNA1 | aging; odontogenesis of dentin-containing tooth; regulation of cell proliferation; adherens junction organization; cell junction assembly; axon regeneration; gap junction assembly; response to organic cyclic compound; male gonad development; response to estrogen stimulus; negative regulation of neuroblast proliferation; establishment or maintenance of cell polarity; muscle cell differentiation; negative regulation of apoptotic process; apical junction assembly; cell-cell junction organization; positive regulation of smoothened signaling pathway; positive regulation of muscle cell differentiation; cellular response to indole-3-methanol; cell adhesion; ovarian follicle development | 5q31.2 |
| CTNNA1P1 | - | 5q22 |
| CTNNA2 | cell-cell adhesion; axonogenesis; prepulse inhibition; regulation of synapse structural plasticity; positive regulation of muscle cell differentiation; brain morphogenesis; dendrite morphogenesis; muscle cell differentiation; radial glia guided migration of Purkinje cell; multicellular organismal development | 2p12-p11.1 |
| CTNNA3 | cell-cell adhesion | 10q22.2 |
| CTNNAL1 | Rho protein signal transduction; cell adhesion | 9q31.2 |
| CTNNB1 | cell maturation; oviduct development; synaptic vesicle transport; thymus development; embryonic hindlimb morphogenesis; oocyte development; embryonic foregut morphogenesis; regulation of smooth muscle cell proliferation; negative regulation of oligodendrocyte differentiation; synapse organization; smooth muscle cell differentiation; positive regulation of muscle cell differentiation; determination of dorsal/ventral asymmetry; regulation of fibroblast proliferation; response to cadmium ion; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of anti-apoptosis; regulation of angiogenesis; positive regulation of fibroblast growth factor receptor signaling pathway; negative regulation of osteoclast differentiation; positive regulation of osteoblast differentiation; positive regulation of endothelial cell differentiation; bone resorption; canonical Wnt receptor signaling p | 3p21 |
| CTNNBIP1 | negative regulation of smooth muscle cell proliferation; positive regulation of osteoblast differentiation; positive regulation of monocyte differentiation; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of transcription initiation from RNA polymerase II promoter; negative regulation of mesenchymal cell proliferation; negative regulation of DNA binding; negative regulation of protein binding; negative regulation of Wnt receptor signaling pathway; negative regulation of protein complex assembly; negative regulation of transcription from RNA polymerase II promoter; anterior/posterior pattern specification; branching involved in ureteric bud morphogenesis; regulation of vascular permeability involved in acute inflammatory response | 1p36.22 |
| CTNNBL1 | somatic diversification of immunoglobulins; positive regulation of apoptotic process | 20q11.23-q12 |
| CTNND1 | epithelial cell differentiation involved in salivary gland development; morphogenesis of a polarized epithelium; regulation of transcription, DNA-dependent; cell adhesion; salivary gland morphogenesis; Wnt receptor signaling pathway; cell-cell adhesion; keratinocyte differentiation; cell junction assembly; adherens junction organization; cell-cell junction organization; negative regulation of canonical Wnt receptor signaling pathway | 11q11 |
| CTNND2 | morphogenesis of a branching structure; regulation of transcription, DNA-dependent; cell adhesion; neuron cell-cell adhesion; signal transduction; multicellular organismal development; learning; regulation of synaptic plasticity | 5p15.2 |
| CTNS | cellular amino acid metabolic process; glutathione metabolic process; transport; brain development; L-cystine transport; ATP metabolic process; cognition | 17p13 |
| CTPS1 | pyrimidine nucleotide biosynthetic process; nucleobase-containing compound metabolic process; CTP biosynthetic process; glutamine metabolic process; nucleobase-containing small molecule interconversion; response to drug; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 1p34.1 |
| CTPS2 | pyrimidine nucleotide metabolic process; pyrimidine nucleotide biosynthetic process; glutamine metabolic process; nucleobase-containing small molecule interconversion; small molecule metabolic process; nucleobase-containing small molecule metabolic process | Xp22 |
| CTR9 | histone monoubiquitination; histone H2B ubiquitination | 11p15.3 |
| CTRB2 | proteolysis; digestion | 16q23.1 |
| CTRC | proteolysis | 1p36.21 |
| CTRL | proteolysis; digestion | 16q22.1 |
| CTSA | small molecule metabolic process; positive regulation of catalytic activity; intracellular protein transport; glycosphingolipid metabolic process; sphingolipid metabolic process; proteolysis | 20q13.1 |
| CTSB | proteolysis; autophagy; cellular response to thyroid hormone stimulus; response to interleukin-4; negative regulation of cell death; regulation of catalytic activity; response to ethanol; response to peptide hormone stimulus; regulation of apoptotic process; response to amine stimulus; response to organic cyclic compound; response to glucose stimulus; response to mechanical stimulus; response to wounding; skeletal muscle tissue development | 8p22 |
| CTSC | response to organic substance; aging; immune response; proteolysis | 11q14.2 |
| CTSD | proteolysis; cell death | 11p15.5 |
| CTSE | digestion; proteolysis; antigen processing and presentation of exogenous peptide antigen via MHC class II | 1q31 |
| CTSF | proteolysis | 11q13 |
| CTSG | proteolysis; immune response; response to lipopolysaccharide; negative regulation of growth of symbiont in host; positive regulation of immune response; defense response to fungus; neutrophil mediated killing of gram-positive bacterium | 14q11.2 |
| CTSH | proteolysis; positive regulation of angiogenesis; metanephros development; T cell mediated cytotoxicity; adaptive immune response; immune response-regulating signaling pathway; positive regulation of cell proliferation; surfactant homeostasis; negative regulation of apoptotic process; membrane protein proteolysis; response to retinoic acid; protein destabilization; zymogen activation; positive regulation of cell migration; antigen processing and presentation; positive regulation of peptidase activity; bradykinin catabolic process; neuropeptide catabolic process; positive regulation of epithelial cell migration; positive regulation of gene expression; dichotomous subdivision of terminal units involved in lung branching; ERK1 and ERK2 cascade; cellular response to thyroid hormone stimulus | 15q25.1 |
| CTSK | intramembranous ossification; proteolysis; bone resorption | 1q21 |
| CTSL | - | 9q21.33 |
| CTSL3P | - | 9q21.33 |
| CTSLP2 | - | 10q11.22 |
| CTSLP4 | - | 10q11.23 |
| CTSLP6 | - | 10q22.3 |
| CTSLP7 | - | 10q11.22 |
| CTSO | proteolysis | 4q32.1 |
| CTSS | adaptive immune response; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; proteolysis; immune response; antigen processing and presentation; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular response to thyroid hormone stimulus | 1q21 |
| CTSV | - | 9q22.2 |
| CTSW | proteolysis; immune response | 11q13.1 |
| CTSZ | proteolysis; epithelial tube branching involved in lung morphogenesis | 20q13.32 |
| CTTN | - | 11q13 |
| CTTNBP2 | brain development | 7q31 |
| CTTNBP2NL | - | 1p13.2 |
| CTU1 | tRNA processing; tRNA thio-modification; tRNA wobble uridine modification | 19q13.41 |
| CTU2 | tRNA processing; tRNA thio-modification; tRNA wobble uridine modification | 16q24.3 |
| CTXN1 | - | 19p13.2 |
| CUBN | cholesterol metabolic process; steroid metabolic process; hemoglobin import; lipoprotein metabolic process; vitamin D metabolic process; lipoprotein transport; small molecule metabolic process; protein homotrimerization; response to nutrient; receptor-mediated endocytosis; lipid metabolic process; tissue homeostasis; in utero embryonic development; cobalamin transport | 10p12.31 |
| CUBNP3 | - | - |
| CUEDC1 | - | 17q23.2 |
| CUEDC2 | - | 10q24.32 |
| CUL1 | S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; G1 phase of mitotic cell cycle; ubiquitin-dependent protein catabolic process; apoptotic process; cell cycle arrest; negative regulation of cell proliferation; induction of apoptosis by intracellular signals; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; interspecies interaction between organisms; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; organ morphogenesis; protein ubiquitination; mitotic cell cycle | 7q36.1 |
| CUL2 | protein catabolic process; G1/S transition of mitotic cell cycle; ubiquitin-dependent protein catabolic process; cell cycle arrest; negative regulation of cell proliferation; induction of apoptosis by intracellular signals; interspecies interaction between organisms | 10p11.21 |
| CUL3 | cell morphogenesis; anaphase; proteasomal ubiquitin-dependent protein catabolic process; stress fiber assembly; negative regulation of Rho protein signal transduction; protein ubiquitination; cell migration; Wnt receptor signaling pathway; positive regulation of cell proliferation; mitotic anaphase; G1/S transition of mitotic cell cycle; cytokinesis; in utero embryonic development; trophectodermal cellular morphogenesis; cell cycle arrest; gastrulation; induction of apoptosis by intracellular signals; cyclin catabolic process | 2q36.2 |
| CUL4A | regulation of protein metabolic process; positive regulation of S phase of mitotic cell cycle; interspecies interaction between organisms; induction of apoptosis by intracellular signals; negative regulation of cell proliferation; regulation of mitotic cell cycle; cell cycle arrest; ubiquitin-dependent protein catabolic process; DNA repair; G1/S transition of mitotic cell cycle | 13q34 |
| CUL4AP1 | - | 4q26 |
| CUL4B | cell cycle; ubiquitin-dependent protein catabolic process; DNA repair | Xq23 |
| CUL5 | calcium ion transmembrane transport; G1/S transition of mitotic cell cycle; ubiquitin-dependent protein catabolic process; response to osmotic stress; cell cycle arrest; cell proliferation; negative regulation of cell proliferation; induction of apoptosis by intracellular signals; viral reproduction; interspecies interaction between organisms; cytosolic calcium ion homeostasis | 11q22.3 |
| CUL7 | activation of signaling protein activity involved in unfolded protein response; ubiquitin-dependent protein catabolic process; proteolysis; vasculogenesis; interspecies interaction between organisms; endoplasmic reticulum unfolded protein response | 6p21.1 |
| CUL9 | ubiquitin-dependent protein catabolic process | 6p21.1 |
| CUTA | response to metal ion; protein localization | 6p21.32 |
| CUTC | protein tetramerization; copper ion transport; copper ion homeostasis | 10q24.2 |
| CUX1 | lung development; negative regulation of transcription from RNA polymerase II promoter; retrograde transport, vesicle recycling within Golgi; regulation of transcription from RNA polymerase II promoter; transport; intra-Golgi vesicle-mediated transport; multicellular organismal development; auditory receptor cell differentiation | 7q22.1 |
| CUX2 | negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 12q24.12 |
| CUZD1 | hormone-mediated signaling pathway; trypsinogen activation; cell division; substrate-dependent cell migration, cell attachment to substrate; cell cycle; cell adhesion; cell proliferation | 10q26.13 |
| CWC15 | nuclear mRNA splicing, via spliceosome; RNA splicing | 11q21 |
| CWC22 | nuclear mRNA splicing, via spliceosome; RNA splicing; RNA metabolic process; regulation of nuclear mRNA splicing, via spliceosome | 2q31.3 |
| CWC25 | - | 17q12 |
| CWC27 | nuclear mRNA splicing, via spliceosome; protein folding | 5q12.3 |
| CWF19L1 | - | 10q24.31 |
| CWF19L2 | - | 11q22.3 |
| CWH43 | GPI anchor biosynthetic process | 4p11 |
| CX3CL1 | negative regulation of apoptotic process; positive regulation of cell migration; platelet activation; cytokine-mediated signaling pathway; positive regulation of macrophage chemotaxis; immune response; defense response; chemotaxis; response to hypoxia; neutrophil chemotaxis; leukocyte chemotaxis; positive regulation of transforming growth factor beta1 production; positive regulation of angiogenesis; positive regulation of cell adhesion; negative regulation of vasoconstriction; lymphocyte chemotaxis; positive regulation of smooth muscle cell proliferation; negative regulation of cytokine secretion; positive regulation of inflammatory response; leukocyte adhesive activation; positive regulation of calcium-independent cell-cell adhesion; angiogenesis involved in wound healing; regulation of inhibitory postsynaptic membrane potential | 16q13 |
| CX3CR1 | negative regulation of cell migration; cellular response to transforming growth factor beta stimulus; cellular response to lipopolysaccharide; macrophage chemotaxis; positive regulation of angiogenesis; interspecies interaction between organisms; negative regulation of apoptotic process; cerebral cortex cell migration; negative regulation of angiogenesis; response to wounding; G-protein coupled receptor signaling pathway; cell adhesion; cellular defense response; chemotaxis; microglial cell activation involved in immune response | 3p21.3 |
| CXADR | negative regulation of cardiac muscle cell proliferation; epithelial structure maintenance; germ cell migration; blood coagulation; heart development; heterophilic cell-cell adhesion; cell adhesion; mitochondrion organization; transepithelial transport; atrioventricular node impulse conduction delay; defense response to virus; leukocyte migration; regulation of immune response; cardiac muscle fiber development; cell-cell junction organization; interspecies interaction between organisms; homotypic cell-cell adhesion; actin cytoskeleton reorganization; neutrophil chemotaxis | 21q21.1 |
| CXADRP2 | - | 15q11.2 |
| CXADRP3 | - | 18p11.21 |
| CXCL1 | G-protein coupled receptor signaling pathway; positive regulation of catalytic activity; intracellular signal transduction; actin cytoskeleton organization; negative regulation of cell proliferation; cell proliferation; nervous system development; signal transduction; immune response; inflammatory response; chemotaxis | 4q21 |
| CXCL10 | response to vitamin D; chemotaxis; defense response to virus; cellular response to heat; cell surface receptor signaling pathway; response to lipopolysaccharide; positive regulation of cell migration; negative regulation of angiogenesis; response to auditory stimulus; response to gamma radiation; response to cold; protein secretion; positive regulation of cell proliferation; blood circulation; muscle organ development; cell-cell signaling; positive regulation of leukocyte chemotaxis; signal transduction; immune response; inflammatory response | 4q21 |
| CXCL11 | cell-cell signaling; signal transduction; immune response; inflammatory response; chemotaxis | 4q21.2 |
| CXCL12 | negative regulation of apoptotic process; negative regulation of leukocyte apoptosis; positive regulation of monocyte chemotaxis; chemokine-mediated signaling pathway; cellular calcium ion homeostasis; response to virus; regulation of actin polymerization or depolymerization; blood circulation; G-protein coupled receptor signaling pathway; signal transduction; cell adhesion; immune response; chemotaxis | 10q11.1 |
| CXCL14 | chemotaxis; immune response; signal transduction; cell-cell signaling | 5q31 |
| CXCL16 | positive regulation of cell migration; response to tumor necrosis factor; response to interferon-gamma; lymphocyte chemotaxis; receptor-mediated endocytosis; chemotaxis; response to cytokine stimulus; positive regulation of cell growth | 17p13 |
| CXCL17 | angiogenesis; chemotaxis; multicellular organismal development; cell differentiation | 19q13.2 |
| CXCL2 | inflammatory response; immune response; chemotaxis; response to molecule of bacterial origin | 4q21 |
| CXCL3 | chemotaxis; inflammatory response; immune response; neutrophil chemotaxis | 4q21 |
| CXCL5 | positive regulation of cell proliferation; cell-cell signaling; signal transduction; immune response; chemotaxis | 4q13.3 |
| CXCL6 | inflammatory response; immune response; signal transduction; cell-cell signaling; chemotaxis | 4q13.3 |
| CXCL8 | induction of positive chemotaxis; signal transduction; cell cycle arrest; activation of signaling protein activity involved in unfolded protein response; immune response; inflammatory response; chemotaxis; cellular component movement; positive regulation of neutrophil chemotaxis; cellular response to tumor necrosis factor; cellular response to interleukin-1; cellular response to lipopolysaccharide; negative regulation of cell proliferation; embryonic digestive tract development; negative regulation of G-protein coupled receptor protein signaling pathway; regulation of retroviral genome replication; cellular response to fibroblast growth factor stimulus; neutrophil activation; angiogenesis; response to molecule of bacterial origin; G-protein coupled receptor signaling pathway; calcium-mediated signaling; regulation of cell adhesion; neutrophil chemotaxis; endoplasmic reticulum unfolded protein response; receptor internalization; intracellular signal transduction | 4q13-q21 |
| CXCL9 | inflammatory response; defense response to virus; cell-cell signaling; G-protein coupled receptor signaling pathway; signal transduction; cellular defense response; immune response; chemotaxis; defense response | 4q21 |
| CXCR1 | cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; dendritic cell chemotaxis; inflammatory response; chemotaxis; receptor internalization | 2q35 |
| CXCR2 | cell surface receptor signaling pathway; signal transduction; dendritic cell chemotaxis; chemotaxis; inflammatory response; neutrophil activation; receptor internalization; neutrophil chemotaxis; positive regulation of cell proliferation; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; cellular defense response | 2q35 |
| CXCR2P1 | - | 2q35 |
| CXCR3 | cellular component movement; chemotaxis; cell adhesion; elevation of cytosolic calcium ion concentration | Xq13 |
| CXCR4 | response to virus; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway; inflammatory response; apoptotic process; dendritic cell chemotaxis; viral reproduction; initiation of viral infection; calcium-mediated signaling; entry into host cell; myelin maintenance; interspecies interaction between organisms; positive regulation of oligodendrocyte differentiation; regulation of chemotaxis; response to hypoxia; activation of MAPK activity | 2q21 |
| CXCR5 | B cell activation; G-protein coupled receptor signaling pathway; cellular component movement; lymph node development | 11q23.3 |
| CXCR6 | viral genome replication; G-protein coupled receptor signaling pathway | 3p21 |
| CXorf21 | - | Xp21.2 |
| CXorf22 | - | Xp21.1 |
| CXorf23 | - | Xp22.12 |
| CXorf24 | - | Xp11.23 |
| CXorf30 | - | Xp21.1 |
| CXorf36 | - | Xp11.3 |
| CXorf38 | - | Xp11.4 |
| CXorf40A | - | Xq28 |
| CXorf40B | - | Xq28 |
| CXorf51A | - | Xq27.3 |
| CXorf56 | - | Xq23 |
| CXorf57 | - | Xq22.3 |
| CXorf58 | - | Xp22.11 |
| CXorf65 | - | Xq13.1 |
| CXorf66 | - | Xq27.1 |
| CXorf67 | - | Xp11.22 |
| CXXC1 | endoplasmic reticulum unfolded protein response; positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; histone H3-K4 methylation; activation of signaling protein activity involved in unfolded protein response | 18q12 |
| CXXC1P1 | - | Xp11.23 |
| CXXC4 | zygotic specification of dorsal/ventral axis; negative regulation of Wnt receptor signaling pathway | 4q22-q24 |
| CXXC5 | signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 5q31.2 |
| CYB561 | generation of precursor metabolites and energy; transport; electron transport chain | 17q23.3 |
| CYB561A3 | - | 11q12.2 |
| CYB561D1 | transport; electron transport chain | 1p13.3 |
| CYB561D2 | electron transport chain; transport | 3p21.3 |
| CYB5A | small molecule metabolic process; electron transport chain; L-ascorbic acid metabolic process; transport; water-soluble vitamin metabolic process; vitamin metabolic process | 18q23 |
| CYB5AP5 | - | 14q12 |
| CYB5B | transport; electron transport chain | 16q22.1 |
| CYB5D1 | - | 17p13.1 |
| CYB5D2 | nervous system development | 17p13.2 |
| CYB5R1 | sterol biosynthetic process | 1q32.1 |
| CYB5R2 | oxidation-reduction process; sterol biosynthetic process | 11p15.4 |
| CYB5R3 | cholesterol biosynthetic process; vitamin metabolic process; water-soluble vitamin metabolic process; blood circulation; L-ascorbic acid metabolic process; small molecule metabolic process | 22q13.2 |
| CYB5R4 | cell development; response to antibiotic; glucose homeostasis; insulin secretion; superoxide metabolic process; oxidation-reduction process; detection of oxygen; generation of precursor metabolites and energy | 6pter-q22.33 |
| CYB5RL | - | 1p32.3 |
| CYBA | positive regulation of endothelial cell proliferation; superoxide metabolic process; negative regulation of glomerular filtration by angiotensin; transport; cellular response to gamma radiation; cellular response to organic cyclic compound; cellular response to tumor necrosis factor; cellular response to glucose stimulus; cellular response to mechanical stimulus; cellular response to amino acid stimulus; response to interleukin-1; oxidation-reduction process; hydrogen peroxide biosynthetic process; respiratory burst; superoxide anion generation; innate immune response; inflammatory response; regulation of blood pressure; smooth muscle hypertrophy; cytochrome complex assembly; electron transport chain; positive regulation of cell growth; response to nutrient levels; response to drug | 16q24 |
| CYBB | oxidation-reduction process; hydrogen peroxide biosynthetic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; respiratory burst; innate immune response; antigen processing and presentation of exogenous peptide antigen via MHC class I; superoxide anion generation; electron transport chain; inflammatory response; ion transport; superoxide metabolic process; antigen processing and presentation of peptide antigen via MHC class I | Xp21.1 |
| CYBRD1 | electron transport chain; transmembrane transport; response to iron ion; cellular iron ion homeostasis | 2q31.1 |
| CYC1 | response to glucagon stimulus; transport; respiratory electron transport chain; small molecule metabolic process | 8q24.3 |
| CYCS | induction of apoptosis by intracellular signals; apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; transport; cellular respiration; DNA fragmentation involved in apoptotic nuclear change; small molecule metabolic process; respiratory electron transport chain | 7p15.3 |
| CYCSP1 | - | 14q24.3 |
| CYCSP10 | - | 3p25.3 |
| CYCSP12 | - | 3p25.2 |
| CYCSP20 | - | 7q32.1 |
| CYCSP28 | - | 11q14.1 |
| CYCSP29 | - | 11q22.3 |
| CYCSP3 | - | 8p12 |
| CYCSP30 | - | 12q21.32 |
| CYCSP38 | - | 15q21.3 |
| CYCSP39 | - | 16p12.1 |
| CYCSP43 | - | Xq13.1 |
| CYCSP49 | - | Yq11.223 |
| CYCSP52 | - | 1q22 |
| CYCSP53 | - | 1q23.3 |
| CYCSP55 | - | 6p21.31 |
| CYCSP6 | - | 2p12 |
| CYCSP8 | - | 2q21.1 |
| CYFIP1 | ruffle organization; multicellular organismal development; axon extension; regulation of cell shape; lamellipodium assembly; cell differentiation; nervous system development | 15q11 |
| CYFIP2 | apoptotic process; cell-cell adhesion | 5q33.3 |
| CYGB | transport; response to oxidative stress; oxygen transport | 17q25 |
| CYHR1 | - | 8q24.3 |
| CYLD | regulation of microtubule cytoskeleton organization; positive regulation of extrinsic apoptotic signaling pathway; protein K63-linked deubiquitination; negative regulation of canonical Wnt receptor signaling pathway; translation; proteolysis; ubiquitin-dependent protein catabolic process; induction of apoptosis; cell cycle; Wnt receptor signaling pathway; negative regulation of NF-kappaB transcription factor activity; negative regulation of type I interferon production; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; negative regulation of NF-kappaB import into nucleus; innate immune response; nucleotide-binding oligomerization domain containing signaling pathway; regulation of mitotic cell cycle | 16q12.1 |
| CYMP | - | 1p13.3 |
| CYP11A1 | maternal process involved in female pregnancy; granulosa cell differentiation; response to corticosterone stimulus; fractalkine metabolic process; cellular response to fibroblast growth factor stimulus; small molecule metabolic process; response to estrogen stimulus; response to alkaloid; response to hydrogen peroxide; response to drug; vitamin D metabolic process; response to genistein; response to fungicide; testosterone biosynthetic process; cellular response to lipopolysaccharide; cellular response to antibiotic; cellular response to cadmium ion; cellular response to cAMP; cellular response to interleukin-1; cellular response to tumor necrosis factor; cellular response to follicle-stimulating hormone stimulus; cellular response to peptide hormone stimulus; cellular response to transforming growth factor beta stimulus; phthalate metabolic process; Leydig cell differentiation; response to acid; organic acid metabolic process; C21-steroid hormone biosynthetic process; progesterone biosynthetic process; estro | 15q23-q24 |
| CYP11B1 | small molecule metabolic process; glucose homeostasis; cellular response to potassium ion; cortisol biosynthetic process; cellular response to hormone stimulus; aldosterone biosynthetic process; regulation of blood pressure; steroid metabolic process; immune response; response to stress; xenobiotic metabolic process; mineralocorticoid biosynthetic process; glucocorticoid biosynthetic process; C21-steroid hormone biosynthetic process; oxidation-reduction process | 8q21 |
| CYP11B2 | regulation of blood volume by renal aldosterone; sodium ion homeostasis; potassium ion homeostasis; small molecule metabolic process; cellular response to potassium ion; cortisol biosynthetic process; cellular response to hormone stimulus; aldosterone biosynthetic process; steroid metabolic process; xenobiotic metabolic process; mineralocorticoid biosynthetic process; C21-steroid hormone biosynthetic process; renal water homeostasis | 8q21-q22 |
| CYP17A1 | hippocampus development; response to fungicide; adrenal gland development; ovulation; response to nutrient levels; response to retinoic acid; Leydig cell differentiation; response to cytokine stimulus; response to drug; small molecule metabolic process; response to steroid hormone stimulus; response to cAMP; response to methylmercury; cellular response to lipopolysaccharide; cellular response to antibiotic; cellular response to gonadotropin stimulus; positive regulation of steroid hormone biosynthetic process; phenol-containing compound metabolic process; phthalate metabolic process; organic acid metabolic process; steroid biosynthetic process; androgen biosynthetic process; glucocorticoid biosynthetic process; xenobiotic metabolic process; sex differentiation; steroid metabolic process; response to acetate; response to ionizing radiation; response to herbicide; response to organic cyclic compound; response to insecticide; biphenyl metabolic process; dibenzo-p-dioxin metabolic process | 10q24.3 |
| CYP19A1 | adrenal gland development; granulocyte differentiation; response to estradiol stimulus; response to testosterone stimulus; progesterone metabolic process; response to organic cyclic compound; response to drug; response to morphine; small molecule metabolic process; cellular response to fibroblast growth factor stimulus; regulation of synapse structure and activity; oxidation-reduction process; bone development; prostate gland growth; cellular response to glucose stimulus; cellular response to follicle-stimulating hormone stimulus; cellular response to hydrostatic pressure; hypothalamus development; steroid biosynthetic process; estrogen biosynthetic process; xenobiotic metabolic process; steroid metabolic process; bile acid metabolic process; androgen metabolic process; male gonad development; response to herbicide; response to cesium ion; response to ionizing radiation; biphenyl metabolic process; dibenzo-p-dioxin metabolic process; phthalate metabolic process; hippocampus development; melatonin metabolic pr | 15q21.1 |
| CYP1A1 | coumarin metabolic process; response to hypoxia; porphyrin-containing compound metabolic process; xenobiotic metabolic process; cell proliferation; response to wounding; amine metabolic process; hepatocyte differentiation; maternal process involved in parturition; oxidation-reduction process; response to hyperoxia; hydrogen peroxide biosynthetic process; digestive tract development; response to arsenic-containing substance; response to antibiotic; positive regulation of S phase of mitotic cell cycle; small molecule metabolic process; cellular lipid metabolic process; camera-type eye development; 9-cis-retinoic acid biosynthetic process; response to drug; response to vitamin A; response to virus; response to nematode; response to herbicide; embryo development ending in birth or egg hatching; flavonoid metabolic process; response to iron(III) ion; response to organic cyclic compound; drug metabolic process; dibenzo-p-dioxin catabolic process; response to food; response to lipopolysaccharide; developmental proce | 15q24.1 |
| CYP1A2 | methylation; monocarboxylic acid metabolic process; drug catabolic process; exogenous drug catabolic process; small molecule metabolic process; cellular respiration; heterocycle metabolic process; hydrogen peroxide biosynthetic process; oxidation-reduction process; oxidative demethylation; oxidative deethylation; porphyrin-containing compound metabolic process; dibenzo-p-dioxin metabolic process; steroid catabolic process; cellular aromatic compound metabolic process; lung development; xenobiotic metabolic process; toxin biosynthetic process; post-embryonic development; alkaloid metabolic process; regulation of gene expression; monoterpenoid metabolic process; drug metabolic process | 15q24.1 |
| CYP1B1 | retina vasculature development in camera-type eye; oxidation-reduction process; small molecule metabolic process; endothelial cell migration; endothelial cell-cell adhesion; response to toxin; toxin metabolic process; estrogen metabolic process; visual perception; xenobiotic metabolic process; cellular aromatic compound metabolic process; angiogenesis; response to organic substance | 2p22.2 |
| CYP1B1-AS1 | - | 2p22.2 |
| CYP1D1P | - | 9q21.13 |
| CYP20A1 | - | 2q33.2 |
| CYP21A2 | steroid biosynthetic process; glucocorticoid biosynthetic process; mineralocorticoid biosynthetic process; xenobiotic metabolic process; steroid metabolic process; progesterone metabolic process; small molecule metabolic process; response to antibiotic; cellular response to peptide hormone stimulus | 6p21.3 |
| CYP24A1 | osteoblast differentiation; vitamin metabolic process; xenobiotic metabolic process; steroid metabolic process; response to vitamin D; vitamin D metabolic process; vitamin D catabolic process; vitamin D receptor signaling pathway; oxidation-reduction process; small molecule metabolic process | 20q13 |
| CYP26A1 | vitamin metabolic process; xenobiotic metabolic process; metabolic process; retinoic acid catabolic process; small molecule metabolic process; negative regulation of retinoic acid receptor signaling pathway | 10q23-q24 |
| CYP26B1 | positive regulation of gene expression; positive regulation of tongue muscle cell differentiation; cell fate determination; cellular response to retinoic acid; vitamin metabolic process; xenobiotic metabolic process; male meiosis; spermatogenesis; proximal/distal pattern formation; small molecule metabolic process; embryonic limb morphogenesis; retinoic acid catabolic process; tongue morphogenesis; oxidation-reduction process; negative regulation of retinoic acid receptor signaling pathway | 2p13.2 |
| CYP26C1 | retinoic acid catabolic process; oxidation-reduction process; central nervous system development; anterior/posterior pattern specification; neural crest cell development; xenobiotic metabolic process; small molecule metabolic process; organelle fusion; vitamin metabolic process; negative regulation of retinoic acid receptor signaling pathway | 10q23.33 |
| CYP27A1 | small molecule metabolic process; bile acid metabolic process; cholesterol metabolic process; bile acid biosynthetic process; xenobiotic metabolic process | 2q33-qter |
| CYP27B1 | response to interferon-gamma; negative regulation of cell growth; regulation of bone mineralization; response to lipopolysaccharide; response to vitamin D; negative regulation of calcidiol 1-monooxygenase activity; response to tumor necrosis factor; vitamin D metabolic process; vitamin D biosynthetic process; vitamin D catabolic process; response to estrogen stimulus; bone mineralization; small molecule metabolic process; positive regulation of keratinocyte differentiation; decidualization; calcium ion homeostasis; positive regulation of vitamin D 24-hydroxylase activity; xenobiotic metabolic process; calcium ion transport; steroid metabolic process; negative regulation of cell proliferation; vitamin metabolic process; positive regulation of vitamin D receptor signaling pathway; G1 to G0 transition | 12q13.1-q13.3 |
| CYP27C1 | - | 2q14.3 |
| CYP2A13 | small molecule metabolic process; xenobiotic metabolic process | 19q13.2 |
| CYP2A7 | - | 19q13.2 |
| CYP2AB1P | - | 3q27.1 |
| CYP2B6 | xenobiotic metabolic process; steroid metabolic process; drug metabolic process; cellular ketone metabolic process; exogenous drug catabolic process; small molecule metabolic process; oxidation-reduction process | 19q13.2 |
| CYP2B7P | oxidation-reduction process | 19q13.2 |
| CYP2C18 | xenobiotic metabolic process; small molecule metabolic process | 10q24 |
| CYP2C19 | steroid metabolic process; monoterpenoid metabolic process; drug metabolic process; exogenous drug catabolic process; small molecule metabolic process; heterocycle metabolic process; oxidation-reduction process; xenobiotic metabolic process | 10q24 |
| CYP2C8 | organic acid metabolic process; oxidative demethylation; oxidation-reduction process; small molecule metabolic process; exogenous drug catabolic process; drug metabolic process; xenobiotic metabolic process | 10q23.33 |
| CYP2C9 | urea metabolic process; monocarboxylic acid metabolic process; drug catabolic process; exogenous drug catabolic process; cellular amide metabolic process; small molecule metabolic process; oxidation-reduction process; oxidative demethylation; drug metabolic process; monoterpenoid metabolic process; steroid metabolic process; xenobiotic metabolic process | 10q24 |
| CYP2D6 | xenobiotic metabolic process; steroid metabolic process; coumarin metabolic process; alkaloid metabolic process; alkaloid catabolic process; monoterpenoid metabolic process; drug metabolic process; isoquinoline alkaloid metabolic process; drug catabolic process; small molecule metabolic process; heterocycle metabolic process; negative regulation of binding; oxidation-reduction process; oxidative demethylation; negative regulation of cellular organofluorine metabolic process | 22q13.1 |
| CYP2D8P1 | - | 22q13.2 |
| CYP2E1 | oxidation-reduction process; small molecule metabolic process; xenobiotic metabolic process; steroid metabolic process; monoterpenoid metabolic process; drug metabolic process; heterocycle metabolic process | 10q26.3 |
| CYP2F1 | oxidation-reduction process; xenobiotic metabolic process; response to toxin; naphthalene metabolic process; small molecule metabolic process | 19q13.2 |
| CYP2F1P | - | 19q13.2 |
| CYP2G1P | oxidation-reduction process | 19q13.2 |
| CYP2J2 | linoleic acid metabolic process; icosanoid metabolic process; xenobiotic metabolic process; regulation of heart contraction; epoxygenase P450 pathway; small molecule metabolic process | 1p31.3-p31.2 |
| CYP2R1 | vitamin metabolic process; small molecule metabolic process; vitamin D metabolic process; response to ionizing radiation; response to cesium ion; steroid metabolic process; xenobiotic metabolic process | 11p15.2 |
| CYP2S1 | xenobiotic metabolic process; small molecule metabolic process; oxidation-reduction process | 19q13.1 |
| CYP2T2P | - | 19q13.2 |
| CYP2T3P | - | 19q13.2 |
| CYP2U1 | small molecule metabolic process; xenobiotic metabolic process | 4q25 |
| CYP2W1 | small molecule metabolic process; xenobiotic metabolic process | 7p22.3 |
| CYP39A1 | small molecule metabolic process; bile acid metabolic process; digestion; xenobiotic metabolic process; cholesterol catabolic process; bile acid biosynthetic process; bile acid catabolic process | 6p21.1-p11.2 |
| CYP3A | - | 7q21.3-q22.1 |
| CYP3A4 | oxidative demethylation; lipid metabolic process; steroid catabolic process; xenobiotic metabolic process; steroid metabolic process; androgen metabolic process; monoterpenoid metabolic process; drug metabolic process; vitamin D metabolic process; drug catabolic process; exogenous drug catabolic process; small molecule metabolic process; heterocycle metabolic process; oxidation-reduction process; alkaloid catabolic process | 7q21.1 |
| CYP3A43 | oxidation-reduction process; xenobiotic metabolic process; small molecule metabolic process | 7q21.1 |
| CYP3A5 | xenobiotic metabolic process; oxidative demethylation; small molecule metabolic process; drug catabolic process; alkaloid catabolic process; steroid metabolic process | 7q21.1 |
| CYP3A7-CYP3A51P | - | 7q |
| CYP46A1 | nervous system development; small molecule metabolic process; bile acid metabolic process; xenobiotic metabolic process; cholesterol catabolic process; bile acid biosynthetic process | 14q32.1 |
| CYP4A22 | - | 1p33 |
| CYP4B1 | small molecule metabolic process; xenobiotic metabolic process | 1p34-p12 |
| CYP4F10P | - | 19p13.12 |
| CYP4F11 | inflammatory response; xenobiotic metabolic process; small molecule metabolic process; oxidation-reduction process | 19p13.1 |
| CYP4F12 | pressure natriuresis; renal water homeostasis; very long-chain fatty acid metabolic process; xenobiotic metabolic process; drug metabolic process; long-chain fatty acid metabolic process; arachidonic acid metabolic process; epoxygenase P450 pathway; negative regulation of blood coagulation; leukotriene B4 catabolic process; vitamin E metabolic process; vitamin K biosynthetic process; small molecule metabolic process; sodium ion homeostasis; oxidation-reduction process | 19p13.1 |
| CYP4F2 | very long-chain fatty acid metabolic process; drug metabolic process; arachidonic acid metabolic process; epoxygenase P450 pathway; negative regulation of blood coagulation; icosanoid metabolic process; pressure natriuresis; renal water homeostasis; long-chain fatty acid metabolic process; vitamin K biosynthetic process; oxidation-reduction process; sodium ion homeostasis; small molecule metabolic process; leukotriene B4 catabolic process; xenobiotic metabolic process; vitamin E metabolic process | 19p13.12 |
| CYP4F22 | - | 19p13.12 |
| CYP4F23P | - | - |
| CYP4F24P | - | 19p13.12 |
| CYP4F3 | small molecule metabolic process; xenobiotic metabolic process; leukotriene metabolic process; icosanoid metabolic process | 19p13.2 |
| CYP4F30P | - | 2q21.1 |
| CYP4F34P | - | - |
| CYP4F43P | - | 2q21.1 |
| CYP4F59P | - | 9p12 |
| CYP4F8 | small molecule metabolic process; xenobiotic metabolic process; prostaglandin metabolic process; icosanoid metabolic process | 19p13.1 |
| CYP4F9P | - | 19p13.12 |
| CYP4V2 | response to stimulus; fatty acid omega-oxidation; visual perception | 4q35.2 |
| CYP4X1 | - | 1p33|1 |
| CYP4Z1 | - | 1p33 |
| CYP4Z2P | oxidation-reduction process | 1p33 |
| CYP51A1 | small molecule metabolic process; xenobiotic metabolic process; cholesterol biosynthetic process | 7q21.2 |
| CYP51P1 | - | 3p12.2 |
| CYP51P2 | - | 13q12.3 |
| CYP51P3 | - | - |
| CYP7B1 | xenobiotic metabolic process; bile acid biosynthetic process; memory; circadian rhythm; cholesterol metabolic process; prostate gland epithelium morphogenesis; response to cAMP; positive regulation of epithelial cell proliferation; small molecule metabolic process; response to drug; negative regulation of intracellular estrogen receptor signaling pathway; bile acid metabolic process; cell death | 8q21.3 |
| CYP8B1 | bile acid metabolic process; small molecule metabolic process; xenobiotic metabolic process; bile acid biosynthetic process | 3p22.1 |
| CYR61 | positive regulation of BMP signaling pathway; positive regulation of cell migration; positive regulation of osteoblast proliferation; positive regulation of apoptotic process; negative regulation of apoptotic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; wound healing, spreading of cells; positive regulation of osteoblast differentiation; positive regulation of protein kinase activity; positive regulation of transcription from RNA polymerase II promoter; atrial septum morphogenesis; chondroblast differentiation; positive regulation of cartilage development; chorio-allantoic fusion; labyrinthine layer blood vessel development; extracellular matrix organization; positive regulation of cell-substrate adhesion; positive regulation of phospholipase activity; anatomical structure morphogenesis; cell proliferation; chemotaxis; ventricular septum development; apoptosis involved in heart morphogenesis; atrioventricular valve morphogenesis; intussusceptive angiogene | 1p22.3 |
| CYS1 | - | 2p25.1 |
| CYSLTR1 | respiratory gaseous exchange; calcium ion transport; chemotaxis; defense response; positive regulation of vasoconstriction; inflammatory response; elevation of cytosolic calcium ion concentration | Xq13.2-q21.1 |
| CYSLTR2 | immune response | 13q14.2 |
| CYSRT1 | - | 9q34.3 |
| CYSTM1 | - | 5q31.3 |
| CYTH1 | vesicle-mediated transport; regulation of cell adhesion; regulation of ARF protein signal transduction | 17q25 |
| CYTH2 | actin cytoskeleton organization; endocytosis; regulation of ARF protein signal transduction; regulation of cell adhesion | 19q13.33 |
| CYTH3 | inositol phosphate-mediated signaling; regulation of ARF protein signal transduction; regulation of cell adhesion; vesicle-mediated transport | 7p22.1 |
| CYTH4 | regulation of cell adhesion; regulation of ARF protein signal transduction | 22q12.3-q13.1 |
| CYTIP | regulation of cell adhesion | 2q11.2 |
| CYTL1 | chondrocyte differentiation; signal transduction; positive regulation of transcription from RNA polymerase II promoter; positive regulation of sequence-specific DNA binding transcription factor activity; chondroitin sulfate proteoglycan biosynthetic process | 4p16-p15 |
| CYYR1 | - | 21q21.2 |
| D21S2090E | - | - |
| D2HGDH | response to manganese ion; response to zinc ion; response to cobalt ion; response to magnesium ion; cellular protein metabolic process; small molecule metabolic process; response to calcium ion; 2-oxoglutarate metabolic process | 2q37.3 |
| DAAM1 | actin cytoskeleton organization; cellular component organization | 14q23.1 |
| DAAM2 | actin cytoskeleton organization; cellular component organization | 6p21.2 |
| DAB1 | multicellular organismal development; nervous system development; cell differentiation | 1p32-p31 |
| DAB1-AS1 | - | - |
| DAB2 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; negative regulation of canonical Wnt receptor signaling pathway; cell morphogenesis involved in differentiation; in utero embryonic development; positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway; excretion; pinocytosis; receptor-mediated endocytosis; positive regulation of protein phosphorylation; cell proliferation; negative regulation of cell growth; negative regulation of protein binding | 5p13 |
| DAB2IP | negative regulation of protein serine/threonine kinase activity; cellular response to epidermal growth factor stimulus; positive regulation of protein serine/threonine kinase activity; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of NF-kappaB transcription factor activity; negative regulation of epithelial to mesenchymal transition; negative regulation of epithelial cell migration; positive regulation of signal transduction; activation of JUN kinase activity; negative regulation of transcription from RNA polymerase II promoter; negative regulation of Ras protein signal transduction; positive regulation of Ras GTPase activity; negative regulation of Ras GTPase activity; negative regulation of catenin import into nucleus; negative regulation of epidermal growth factor receptor signaling pathway; positive regulation of apoptotic process; negative regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of MAP kinase activity; positive regulation of JUN kinase a | 9q33.1-q33.3 |
| DACH1 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of cell migration; negative regulation of transcription by competitive promoter binding; multicellular organismal development; regulation of transcription, DNA-dependent | 13q22 |
| DACH2 | regulation of transcription, DNA-dependent; multicellular organismal development; development of primary female sexual characteristics | Xq21.3 |
| DACT1 | Wnt receptor signaling pathway; multicellular organismal development | 14q23.1 |
| DACT2 | - | 6q27 |
| DACT3 | - | 19q13.32 |
| DAD1 | response to drug; apoptotic process; protein glycosylation; blastocyst development; anti-apoptosis; response to nutrient; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 14q11.2 |
| DAG1 | membrane protein ectodomain proteolysis; NLS-bearing substrate import into nucleus; cytoskeletal anchoring at plasma membrane; virus-host interaction; negative regulation of protein kinase B signaling cascade; negative regulation of cell migration; microtubule anchoring; negative regulation of MAPK cascade; interspecies interaction between organisms | 3p21 |
| DAGLA | blood coagulation; cell death; lipid catabolic process; platelet activation | 11q12.2 |
| DAGLB | blood coagulation; lipid catabolic process; platelet activation | 7p22.1 |
| DALRD3 | arginyl-tRNA aminoacylation | 3p21.31 |
| DANCR | - | 4q12 |
| DAND5 | negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of BMP signaling pathway; detection of nodal flow; determination of left/right asymmetry in lateral mesoderm; ventricular septum development; atrial septum development; determination of heart left/right asymmetry; negative regulation of activin receptor signaling pathway | 19p13.2 |
| DAO | small molecule metabolic process; D-alanine catabolic process; glyoxylate metabolic process; D-serine catabolic process; cellular nitrogen compound metabolic process; proline catabolic process | 12q24 |
| DAOA | - | 13q33.2|13q34 |
| DAP | induction of apoptosis by extracellular signals; negative regulation of autophagy; negative regulation of NF-kappaB transcription factor activity; cellular response to amino acid starvation; negative regulation of transcription, DNA-dependent; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process | 5p15.2 |
| DAP3 | apoptotic mitochondrial changes; induction of apoptosis by extracellular signals | 1q22 |
| DAP3P2 | - | 2q31.2 |
| DAPK1 | intracellular protein kinase cascade; regulation of N-methyl-D-aspartate selective glutamate receptor activity; regulation of apoptotic process; regulation of autophagy; induction of apoptosis by extracellular signals; signal transduction; induction of apoptosis; anti-apoptosis; apoptotic process; protein phosphorylation; protein autophosphorylation | 9q21.33 |
| DAPK1-IT1 | - | 9q21.33 |
| DAPK2 | protein phosphorylation; induction of apoptosis; intracellular protein kinase cascade; regulation of autophagy; regulation of apoptotic process; anoikis; protein autophosphorylation | 15q22.31 |
| DAPK3 | chromatin modification; neuron differentiation; regulation of apoptotic process; protein autophosphorylation; positive regulation of canonical Wnt receptor signaling pathway; regulation of cell motility; regulation of actin cytoskeleton reorganization; intracellular protein kinase cascade; regulation of mitosis; regulation of smooth muscle contraction; induction of apoptosis; protein phosphorylation; cytokinesis; regulation of transcription, DNA-dependent; regulation of autophagy | 19p13.3 |
| DAPL1 | apoptotic process; cell differentiation | 2q24.1 |
| DAPP1 | protein dephosphorylation; signal transduction; peptidyl-tyrosine dephosphorylation | 4q25-q27 |
| DARS | protein complex assembly; gene expression; aspartyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; translation | 2q21.3 |
| DARS2 | mitochondrial asparaginyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; gene expression; tRNA aminoacylation | 1q25.1 |
| DAW1 | - | 2q36.3 |
| DAXX | apoptotic process; negative regulation of transcription, DNA-dependent; interspecies interaction between organisms; regulation of protein ubiquitination; androgen receptor signaling pathway; induction of apoptosis via death domain receptors; activation of JUN kinase activity; induction of apoptosis; regulation of transcription, DNA-dependent; cytokinesis after mitosis | 6p21.3 |
| DAZ2 | spermatogenesis; multicellular organismal development; single fertilization; cell differentiation | Yq11.223 |
| DAZ4 | spermatogenesis; cell differentiation; multicellular organismal development | Yq11.223 |
| DAZAP1 | spermatogenesis; cell differentiation; multicellular organismal development | 19p13.3 |
| DAZAP2 | - | 12q12 |
| DAZAP2P1 | - | 2q33.1 |
| DAZL | positive regulation of translational initiation; regulation of translation; multicellular organismal development; cell differentiation; germ cell development; spermatogenesis | 3p24.3 |
| DBF4 | G1/S transition of mitotic cell cycle; M/G1 transition of mitotic cell cycle; cell cycle checkpoint; mitotic cell cycle; positive regulation of catalytic activity; DNA replication | 7q21.3 |
| DBF4B | cell cycle | 17q21.31|17q21 |
| DBF4P1 | - | 10q21.3 |
| DBH | fear response; maternal behavior; regulation of apoptotic process; response to peptide hormone stimulus; small molecule metabolic process; positive regulation of vasoconstriction; octopamine metabolic process; response to copper ion; behavioral response to ethanol; response to pain; leukocyte migration; sensory perception of taste; bone development; cellular response to manganese ion; cellular response to nicotine; homoiothermy; catecholamine biosynthetic process; synaptic transmission; blood vessel remodeling; response to amphetamine; leukocyte mediated immunity; glucose homeostasis; memory; locomotory behavior; visual learning; response to iron ion; response to ozone; response to organic cyclic compound; response to estradiol stimulus; cellular nitrogen compound metabolic process; social behavior; norepinephrine biosynthetic process; dopamine catabolic process; cytokine production; regulation of cell proliferation; multicellular organismal aging | 9q34 |
| DBH-AS1 | - | 9q34.2 |
| DBI | transport | 2q12-q21 |
| DBIL5P | - | 17p13.3 |
| DBIP2 | - | 5q14.1 |
| DBIP3 | - | 16p13.3 |
| DBN1 | regulation of neuronal synaptic plasticity; regulation of dendrite development; cell differentiation; nervous system development; multicellular organismal development; actin filament organization | 5q35.3 |
| DBNDD1 | - | 16q24.3 |
| DBNDD2 | negative regulation of protein kinase activity | 20q13.12 |
| DBNL | cellular component disassembly involved in apoptosis; activation of JUN kinase activity; Rac protein signal transduction; apoptotic process; endocytosis | 7p13 |
| DBP | regulation of transcription from RNA polymerase II promoter; regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter; rhythmic process | 19q13.3 |
| DBR1 | nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions | 3q22.3 |
| DBT | fatty-acyl-CoA biosynthetic process; metabolic process; branched chain family amino acid catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 1p31 |
| DBX2 | - | 12q12 |
| DCAF10 | protein ubiquitination | 9p13.2 |
| DCAF11 | protein ubiquitination | 14q11.2 |
| DCAF12 | protein ubiquitination | 9p13.3 |
| DCAF12L1 | - | Xq25 |
| DCAF12L2 | - | Xq25 |
| DCAF13 | protein ubiquitination; rRNA processing | 8q22.3 |
| DCAF13P3 | - | 15q21.2 |
| DCAF15 | - | 19p13.12 |
| DCAF16 | protein ubiquitination | 4p15.31 |
| DCAF17 | protein ubiquitination | 2q31.1 |
| DCAF4 | protein ubiquitination | 14q24.3 |
| DCAF4L1 | - | 4p13 |
| DCAF4L2 | - | 8q21.3 |
| DCAF5 | protein ubiquitination | 14q23-q24.1 |
| DCAF6 | positive regulation of transcription from RNA polymerase II promoter; protein ubiquitination | 1q24.2 |
| DCAF7 | protein ubiquitination; multicellular organismal development | 17q23.3 |
| DCAF8 | protein ubiquitination | 1q22-q23 |
| DCAF8L1 | - | Xp21.3 |
| DCAKD | coenzyme A biosynthetic process | 17q21.31 |
| DCBLD1 | cell adhesion | 6q22.1 |
| DCBLD2 | wound healing; intracellular receptor mediated signaling pathway; negative regulation of cell growth; cell adhesion | 3q12.1|3 |
| DCC | apoptotic process; negative regulation of dendrite development; positive regulation of ERK1 and ERK2 cascade; negative regulation of collateral sprouting; negative regulation of neuron projection development; positive regulation of neuron projection development; axon guidance; response to amphetamine; axonogenesis; multicellular organismal development; induction of apoptosis; regulation of apoptotic process | 18q21.3 |
| DCDC1 | intracellular signal transduction | 11p13 |
| DCDC2 | intracellular signal transduction; nervous system development; cellular defense response; neuron migration | 6p22.1 |
| DCDC2B | intracellular signal transduction | 1p35.1 |
| DCDC2C | intracellular signal transduction | 2p25.3 |
| DCDC5 | intracellular signal transduction | 11p14.1 |
| DCHS1 | homophilic cell adhesion; calcium-dependent cell-cell adhesion; cell adhesion | 11p15.4 |
| DCHS2 | cell adhesion; homophilic cell adhesion | 4q31.3 |
| DCK | nucleotide biosynthetic process; nucleobase-containing small molecule metabolic process; deoxycytidine metabolic process; small molecule metabolic process; purine-containing compound salvage; pyrimidine nucleoside salvage; drug metabolic process; pyrimidine nucleotide metabolic process; pyrimidine base metabolic process; purine base metabolic process | 4q13.3-q21.1 |
| DCLK1 | response to virus; intracellular signal transduction; cell differentiation; endosome transport; central nervous system development; nervous system development; multicellular organismal development; protein phosphorylation | 13q13 |
| DCLK2 | intracellular signal transduction | 4q31.3 |
| DCLK3 | - | 3p22.2 |
| DCLRE1A | DNA repair; cell cycle; mitosis; cell division | 10q25.1 |
| DCLRE1B | telomeric 3' overhang formation; protection from non-homologous end joining at telomere; telomeric loop formation; DNA repair; cell cycle checkpoint; telomere maintenance | 1p13.2 |
| DCLRE1C | telomere maintenance; B cell differentiation; response to ionizing radiation; DNA recombination; chromosome organization; double-strand break repair | 10p13 |
| DCN | wound healing; response to lipopolysaccharide; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; organ morphogenesis; aging; skeletal muscle tissue development; placenta development; kidney development; response to mechanical stimulus | 12q21.33 |
| DCP1A | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; RNA metabolic process; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3p21.1 |
| DCP1B | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; RNA metabolic process; mRNA metabolic process | 12p13.33 |
| DCP2 | mRNA metabolic process; histone mRNA catabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; RNA metabolic process; gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 5q22.2 |
| DCPS | deadenylation-dependent decapping of nuclear-transcribed mRNA; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; RNA metabolic process; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 11q24.2 |
| DCST1 | - | 1q22 |
| DCST2 | - | 1q22 |
| DCSTAMP | osteoclast differentiation | 8q23 |
| DCT | positive regulation of neuroblast proliferation; melanin biosynthetic process from tyrosine; epidermis development; ventricular zone neuroblast division; developmental pigmentation; cell development | 13q32 |
| DCTD | nucleobase-containing small molecule metabolic process; pyrimidine nucleoside biosynthetic process; small molecule metabolic process; nucleotide biosynthetic process; pyrimidine nucleotide metabolic process; pyrimidine base metabolic process | 4q35.1 |
| DCTN1 | mitotic cell cycle; endoplasmic reticulum unfolded protein response; cell death; nervous system development; mitosis; activation of signaling protein activity involved in unfolded protein response; transport; G2/M transition of mitotic cell cycle | 2p13 |
| DCTN2 | cell proliferation; mitosis; mitotic spindle organization; microtubule-based process; mitotic cell cycle; G2/M transition of mitotic cell cycle | 12q13.3 |
| DCTN3 | microtubule-based process; G2/M transition of mitotic cell cycle; mitotic cell cycle; cytokinesis; mitosis | 9p13 |
| DCTN4 | - | 5q31-q32 |
| DCTN5 | - | 16p12.2 |
| DCTN6 | - | 8p12-p11 |
| DCTPP1 | protein homotetramerization; nucleoside triphosphate catabolic process | 16p11.2 |
| DCUN1D1 | - | 3q26.3 |
| DCUN1D2 | - | 13q34 |
| DCUN1D3 | negative regulation of S phase of mitotic cell cycle; positive regulation of apoptotic process; negative regulation of cell growth; response to gamma radiation; response to UV-C | 16p12.3 |
| DCUN1D4 | - | 4q12 |
| DCUN1D5 | - | 11q22.3 |
| DCX | axon guidance; response to electrical stimulus; dendrite morphogenesis; axon extension; intracellular signal transduction; cell differentiation; central nervous system projection neuron axonogenesis; brain development; neuron migration; multicellular organismal development; nervous system development; central nervous system development | Xq22.3-q23 |
| DCXR | D-xylose metabolic process; glucose metabolic process; NADP metabolic process; carbohydrate metabolic process; protein homotetramerization; xylulose metabolic process; oxidation-reduction process | 17q25.3 |
| DDA1 | - | 19p13.11 |
| DDAH1 | nitric oxide mediated signal transduction; positive regulation of nitric oxide biosynthetic process; positive regulation of angiogenesis; arginine catabolic process; arginine metabolic process; regulation of systemic arterial blood pressure; citrulline metabolic process | 1p22 |
| DDAH2 | positive regulation of nitric oxide biosynthetic process; nitric oxide mediated signal transduction; anti-apoptosis; nitric oxide biosynthetic process; arginine catabolic process; citrulline metabolic process | 6p21.3 |
| DDB1 | cell cycle checkpoint; nucleotide-excision repair, DNA damage removal; DNA repair; nucleotide-excision repair; Wnt receptor signaling pathway; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; proteasomal ubiquitin-dependent protein catabolic process; interspecies interaction between organisms | 11q12-q13 |
| DDB2 | protein polyubiquitination; nucleotide-excision repair, DNA damage removal; DNA repair; nucleotide-excision repair; pyrimidine dimer repair; response to UV; protein autoubiquitination | 11p12-p11 |
| DDC | multicellular organismal aging; isoquinoline alkaloid metabolic process; cellular amino acid metabolic process; circadian rhythm; response to toxin; cellular response to growth factor stimulus; synaptic vesicle amine transport; cellular nitrogen compound metabolic process; cellular response to drug; dopamine biosynthetic process; catecholamine biosynthetic process; serotonin biosynthetic process; small molecule metabolic process; indolalkylamine biosynthetic process; response to pyrethroid; phytoalexin metabolic process; cellular response to alkaloid | 7p12.2 |
| DDHD1 | lipid catabolic process | 14q21 |
| DDHD2 | lipid catabolic process | 8p11.23 |
| DDI2 | proteolysis | 1p36.21 |
| DDIAS | cell cycle; apoptotic process; cell cycle arrest | 11q14.1 |
| DDIT3 | negative regulation of canonical Wnt receptor signaling pathway; response to DNA damage stimulus; activation of signaling protein activity involved in unfolded protein response; cell cycle; cell cycle arrest; endoplasmic reticulum unfolded protein response; response to endoplasmic reticulum stress; mRNA transcription from RNA polymerase II promoter; negative regulation of sequence-specific DNA binding transcription factor activity; regulation of DNA-dependent transcription in response to stress; regulation of transcription involved in anterior/posterior axis specification; cell redox homeostasis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of determination of dorsal identity; regulation of transcription, DNA-dependent | 12q13.1-q13.2 |
| DDIT4 | response to hypoxia; apoptotic process; negative regulation of TOR signaling cascade; protein complex disassembly; negative regulation of glycolysis; reactive oxygen species metabolic process | 10q22.1 |
| DDIT4L | negative regulation of signal transduction | 4q24 |
| DDN | - | 12q13.12 |
| DDO | aspartate metabolic process; aspartate catabolic process; insemination; grooming behavior; hormone metabolic process | 6q21 |
| DDOST | response to cytokine stimulus; innate immune response; cellular protein metabolic process; post-translational protein modification; translation; protein N-linked glycosylation; T cell activation; protein N-linked glycosylation via asparagine; gene expression; SRP-dependent cotranslational protein targeting to membrane; protein glycosylation | 1p36.1 |
| DDR1 | embryo implantation; peptidyl-tyrosine autophosphorylation; negative regulation of cell proliferation; regulation of extracellular matrix disassembly; smooth muscle cell migration; organ regeneration; collagen-activated tyrosine kinase receptor signaling pathway; ear development; skin development; wound healing, spreading of cells; protein autophosphorylation; branching involved in mammary gland duct morphogenesis; mammary gland alveolus development; smooth muscle cell-matrix adhesion; regulation of cell-matrix adhesion; cell adhesion; regulation of cell growth | 6p21.3 |
| DDR2 | chondrocyte proliferation; positive regulation of osteoblast differentiation; positive regulation of protein kinase activity; protein autophosphorylation; positive regulation of fibroblast proliferation; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of extracellular matrix disassembly; collagen-activated tyrosine kinase receptor signaling pathway; ossification; endochondral bone growth; cell adhesion; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; regulation of bone mineralization; peptidyl-tyrosine phosphorylation; positive regulation of fibroblast migration; regulation of extracellular matrix disassembly | 1q23.3 |
| DDRGK1 | - | 20p13 |
| DDT | melanin biosynthetic process | 22q11.23 |
| DDTL | - | 22q11.23 |
| DDX1 | spliceosome assembly; double-strand break repair; regulation of transcription, DNA-dependent; mRNA processing; regulation of translational initiation; multicellular organismal development; DNA duplex unwinding; nucleic acid phosphodiester bond hydrolysis | 2p24 |
| DDX10 | - | 11q22-q23 |
| DDX10P2 | - | 9q21.32 |
| DDX11 | endoplasmic reticulum unfolded protein response; mitotic sister chromatid segregation; S phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; nucleobase-containing compound metabolic process; activation of signaling protein activity involved in unfolded protein response; cell cycle; sister chromatid cohesion; positive regulation of cell proliferation; DNA duplex unwinding; interspecies interaction between organisms | 12p11 |
| DDX11-AS1 | - | - |
| DDX11L2 | - | 2q13 |
| DDX12P | nucleobase-containing compound metabolic process; cell cycle | 12p13.31 |
| DDX17 | regulation of skeletal muscle cell differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of intracellular estrogen receptor signaling pathway; RNA processing | 22q13.1 |
| DDX18 | - | 2q14.1 |
| DDX18P1 | - | 14q24.1 |
| DDX18P2 | - | 15q22.2 |
| DDX18P3 | - | 6p22.3 |
| DDX18P5 | - | 11q24.3 |
| DDX18P6 | - | 10q23.31 |
| DDX19A | protein transport; mRNA transport | 16q22.1 |
| DDX19B | protein transport; mRNA export from nucleus | 16q22.1 |
| DDX20 | spliceosomal snRNP assembly; negative regulation of transcription from RNA polymerase II promoter; assembly of spliceosomal tri-snRNP; RNA processing; mRNA processing; induction of apoptosis; RNA splicing; RNA metabolic process; ncRNA metabolic process; positive regulation of apoptotic process; gene expression | 1p21.1-p13.2 |
| DDX21 | - | 10q21 |
| DDX23 | cis assembly of pre-catalytic spliceosome; RNA splicing, via transesterification reactions; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression | 12q13.12 |
| DDX24 | RNA metabolic process | 14q32 |
| DDX25 | mRNA export from nucleus; regulation of translation; transport; multicellular organismal development; spermatogenesis; spermatid development; cell differentiation | 11q24 |
| DDX26B | - | Xq26.3 |
| DDX27 | - | 20q13.13 |
| DDX28 | - | 16q22.1 |
| DDX31 | - | 9q34.13 |
| DDX39A | mRNA export from nucleus; nuclear mRNA splicing, via spliceosome; RNA splicing | 19p13.12 |
| DDX39B | intronless viral mRNA export from host nucleus; spliceosome assembly; nuclear mRNA splicing, via spliceosome; mRNA export from nucleus; transport; RNA splicing; RNA secondary structure unwinding | 6p21.3 |
| DDX39BP2 | - | 6p21.33 |
| DDX3X | interspecies interaction between organisms | Xp11.3-p11.23 |
| DDX3Y | - | Yq11 |
| DDX3YP1 | - | Xq13.2 |
| DDX3YP3 | - | 4q24 |
| DDX4 | multicellular organismal development; sperm motility | 5p15.2-p13.1 |
| DDX41 | nuclear mRNA splicing, via spliceosome; RNA processing; apoptotic process; multicellular organismal development; RNA splicing | 5q35.3 |
| DDX42 | regulation of anti-apoptosis; protein localization | 17q23.3 |
| DDX43 | - | 6q12-q13 |
| DDX46 | mRNA processing; RNA splicing | 5q31.1 |
| DDX47 | RNA splicing; apoptotic process; mRNA processing; rRNA processing | 12p13.1 |
| DDX49 | - | 19p12 |
| DDX5 | negative regulation of transcription from RNA polymerase II promoter; regulation of alternative nuclear mRNA splicing, via spliceosome; regulation of skeletal muscle cell differentiation; signal transduction by p53 class mediator resulting in induction of apoptosis; regulation of androgen receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; regulation of osteoblast differentiation; positive regulation of DNA damage response, signal transduction by p53 class mediator; positive regulation of intracellular estrogen receptor signaling pathway; cell growth; RNA splicing; nuclear mRNA splicing, via spliceosome | 17q21 |
| DDX50 | - | 10q22.1 |
| DDX50P1 | - | 2p22.3 |
| DDX51 | rRNA processing | 12q24.33 |
| DDX52 | - | 17q21.1 |
| DDX53 | - | Xp22.11 |
| DDX54 | regulation of transcription, DNA-dependent; RNA processing; RNA metabolic process; intracellular estrogen receptor signaling pathway | 12q24.13 |
| DDX55 | - | 12q24.31 |
| DDX56 | rRNA processing | 7p13 |
| DDX58 | positive regulation of defense response to virus by host; detection of virus; negative regulation of type I interferon production; positive regulation of interferon-alpha production; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of interferon-beta production; positive regulation of transcription factor import into nucleus; innate immune response; positive regulation of transcription from RNA polymerase II promoter | 9p12 |
| DDX59 | - | 1q32.1 |
| DDX6 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; RNA metabolic process; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 11q23.3 |
| DDX60 | response to virus | 4q32.3 |
| DDX60L | - | 4q32.3 |
| DDX6P1 | - | 6p22.1 |
| DEAF1 | regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; germ cell development; multicellular organismal development; neural tube closure; embryonic skeletal system development; regulation of mammary gland epithelial cell proliferation; anatomical structure morphogenesis; nervous system development | 11p15.5 |
| DEC1 | negative regulation of cell proliferation | 9q32 |
| DECR1 | fatty acid beta-oxidation; cellular lipid metabolic process; small molecule metabolic process; protein homotetramerization | 8q21.3 |
| DECR2 | unsaturated fatty acid biosynthetic process | 16p13.3 |
| DEDD | regulation of apoptotic process; negative regulation of transcription, DNA-dependent; induction of apoptosis via death domain receptors; spermatogenesis; induction of apoptosis | 1q23.3 |
| DEDD2 | intracellular signal transduction; apoptotic nuclear change; cellular homeostasis; rRNA catabolic process; activation of pro-apoptotic gene products; induction of apoptosis via death domain receptors; RNA processing; regulation of apoptotic process; negative regulation of transcription, DNA-dependent | 19q13.2 |
| DEF6 | - | 6p21.33-p21.1 |
| DEF8 | intracellular signal transduction | 16q24.3 |
| DEFA1 | - | 8p23.1 |
| DEFA10P | - | 8p23.1 |
| DEFA3 | response to virus; killing of cells of other organism; defense response to bacterium; innate immune response; defense response to fungus | 8p23.1 |
| DEFA4 | defense response to fungus; innate immune response; defense response to bacterium; killing of cells of other organism | 8p23 |
| DEFA5 | killing of cells of other organism; defense response to bacterium; innate immune response; defense response to fungus | 8p23.1 |
| DEFA8P | - | 8p23.1 |
| DEFB1 | innate immune response; acute inflammatory response; chemotaxis; immune response; G-protein coupled receptor signaling pathway; response to bacterium; response to testosterone stimulus; defense response to bacterium | 8p23.1 |
| DEFB103A | defense response to bacterium; positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria; innate immune response | 8p23.1 |
| DEFB104B | defense response to bacterium | 8p23.1 |
| DEFB106B | defense response to bacterium | 8p23.1 |
| DEFB112 | defense response to bacterium | 6p12.3 |
| DEFB113 | defense response to bacterium | 6p12.3 |
| DEFB116 | defense response to bacterium | 20q11.21 |
| DEFB119 | defense response to bacterium | 20q11.21 |
| DEFB121 | defense response to bacterium | 20q11.1 |
| DEFB126 | defense response to bacterium | 20p13 |
| DEFB127 | defense response to bacterium; innate immune response | 20p13 |
| DEFB128 | defense response to bacterium | 20p13 |
| DEFB134 | defense response to bacterium | 8p23.1 |
| DEFB136 | defense response to bacterium | 8p23.1 |
| DEFB4B | - | 8p23.1 |
| DEFT1P2 | - | 8p23.1 |
| DEGS1 | small molecule metabolic process; sphingolipid biosynthetic process; sphingolipid metabolic process; unsaturated fatty acid biosynthetic process | 1q42.11 |
| DEGS2 | fatty acid biosynthetic process; ceramide biosynthetic process; small molecule metabolic process; sphingolipid biosynthetic process; sphinganine metabolic process; sphingolipid metabolic process | 14q32.2 |
| DEK | viral genome replication; chromatin modification; signal transduction; transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 6p22.3 |
| DENND1A | synaptic vesicle endocytosis | 9q33.3 |
| DENND1B | - | 1q31.3 |
| DENND1C | - | 19p13.3 |
| DENND2A | - | 7q34 |
| DENND2C | - | 1p13.2 |
| DENND2D | - | 1p13.3 |
| DENND3 | - | 8q24.3 |
| DENND4A | regulation of transcription, DNA-dependent | 15q22.31 |
| DENND4B | - | 1q21 |
| DENND4C | - | 9p22.1 |
| DENND5A | - | 11p15.4 |
| DENND5B | - | 12p11.21 |
| DENND6A | - | 3p14.3 |
| DENND6B | - | 22q13.33 |
| DENR | - | 12q24.31 |
| DEPDC1 | intracellular signal transduction; negative regulation of transcription, DNA-dependent | 1p31.2 |
| DEPDC1-AS1 | - | - |
| DEPDC1B | small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 5q12.1 |
| DEPDC4 | intracellular signal transduction | 12q23.1 |
| DEPDC5 | intracellular signal transduction | 22q12.3 |
| DEPDC7 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction | 11p13 |
| DEPTOR | negative regulation of TOR signaling cascade; negative regulation of protein kinase activity; regulation of apoptotic process; negative regulation of cell size; intracellular signal transduction | 8q24.12 |
| DERA | deoxyribonucleotide catabolic process; deoxyribonucleoside catabolic process | 12p12.3 |
| DERL1 | ER-associated protein catabolic process; response to unfolded protein; protein transport; intracellular transport of viral proteins in host cell; endoplasmic reticulum unfolded protein response; retrograde protein transport, ER to cytosol; interspecies interaction between organisms; establishment of protein localization | 8q24.13 |
| DERL2 | endoplasmic reticulum unfolded protein response; retrograde protein transport, ER to cytosol; ER-associated protein catabolic process; positive regulation of cell growth; response to unfolded protein; positive regulation of cell proliferation | 17p13.2 |
| DERL3 | ER-associated protein catabolic process; endoplasmic reticulum unfolded protein response | 22q11.23 |
| DES | regulation of heart contraction; muscle filament sliding; cytoskeleton organization; muscle contraction | 2q35 |
| DESI1 | - | 22q13.2 |
| DESI2 | - | 1q44 |
| DET1 | - | 15q25.3 |
| DEXI | - | 16p13.13 |
| DFFA | DNA fragmentation involved in apoptotic nuclear change; apoptotic process; induction of apoptosis; cellular component disassembly involved in apoptosis; intracellular signal transduction; negative regulation of apoptotic process | 1p36.3-p36.2 |
| DFFB | apoptotic process; intracellular signal transduction; apoptotic chromosome condensation; metabolic process; cellular component disassembly involved in apoptosis; induction of apoptosis; DNA fragmentation involved in apoptotic nuclear change | 1p36.3 |
| DFNA5 | sensory perception of sound; inner ear receptor cell differentiation | 7p15 |
| DFNB31 | inner ear receptor stereocilium organization; sensory perception of light stimulus; sensory perception of sound; retina homeostasis | 9q32 |
| DFNB59 | sensory perception of sound | 2q31.2 |
| DGAT1 | glycerolipid metabolic process; diacylglycerol metabolic process; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA metabolic process; very-low-density lipoprotein particle assembly; insulin secretion; lipid storage; triglyceride biosynthetic process; triglyceride metabolic process | 8q24.3 |
| DGAT2 | cholesterol homeostasis; cellular triglyceride homeostasis; cellular lipid metabolic process; small molecule metabolic process; diacylglycerol metabolic process; fat pad development; low-density lipoprotein particle clearance; lipid storage; triglyceride biosynthetic process; lipid biosynthetic process; cellular response to oleic acid; long-chain fatty-acyl-CoA metabolic process; glycerol metabolic process; fatty acid homeostasis; regulation of plasma lipoprotein particle levels | 11q13.5 |
| DGAT2L6 | lipid biosynthetic process | Xq13.1 |
| DGCR10 | - | 22q11 |
| DGCR11 | - | 22q11.21 |
| DGCR12 | - | 22q11.21 |
| DGCR2 | cell adhesion; organ morphogenesis | 22q11.21 |
| DGCR5 | - | 22q11 |
| DGCR6 | cell adhesion; organ morphogenesis | 22q11.21|22q11 |
| DGCR6L | - | 22q11.21 |
| DGCR8 | primary miRNA processing | 22q11.2 |
| DGCR9 | - | 22q11.21 |
| DGKA | activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; intracellular signal transduction; platelet activation; blood coagulation | 12q13.3 |
| DGKB | platelet activation; intracellular signal transduction; blood coagulation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway | 7p21.2 |
| DGKD | protein homooligomerization; diacylglycerol metabolic process; endocytosis; signal transduction; epidermal growth factor receptor signaling pathway; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; multicellular organismal development; blood coagulation; protein transport; cell growth; second-messenger-mediated signaling; platelet activation; response to organic substance | 2q37.1 |
| DGKE | phospholipid biosynthetic process; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; blood coagulation; platelet activation; intracellular signal transduction | 17q22 |
| DGKG | signal transduction; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; blood coagulation; platelet activation; intracellular signal transduction; neuron development | 3q27.2-q27.3 |
| DGKH | activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; platelet activation; intracellular signal transduction; protein oligomerization; blood coagulation | 13q14.11 |
| DGKI | platelet activation; blood coagulation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; regulation of Rap GTPase activity; intracellular signal transduction; positive regulation of Ras protein signal transduction; negative regulation of catalytic activity | 7q32.3-q33 |
| DGKK | response to oxidative stress; diacylglycerol metabolic process; intracellular signal transduction; platelet activation; blood coagulation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway | Xp11.22 |
| DGKQ | protein kinase C signaling cascade; thrombin receptor signaling pathway; intracellular signal transduction; response to ATP; platelet activation; cAMP-mediated signaling; blood coagulation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; G-protein coupled receptor signaling pathway | 4p16.3 |
| DGKZ | blood coagulation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; lipid phosphorylation; negative regulation of Ras protein signal transduction; negative regulation of mitotic cell cycle; intracellular signal transduction; mitotic cell cycle G1/S transition DNA damage checkpoint; platelet activation; cell migration | 11p11.2 |
| DGKZP1 | - | 13q14.11 |
| DGUOK | guanosine metabolic process; nucleobase-containing compound metabolic process; purine base metabolic process; nucleobase-containing small molecule metabolic process; purine deoxyribonucleoside metabolic process; dGTP metabolic process; small molecule metabolic process; purine-containing compound salvage; negative regulation of neuron projection development; nucleotide biosynthetic process; protein phosphorylation | 2p13 |
| DGUOK-AS1 | - | - |
| DHCR24 | anti-apoptosis; response to oxidative stress; amyloid precursor protein catabolic process; cell cycle arrest; apoptotic process; cholesterol biosynthetic process; Ras protein signal transduction; protein localization; negative regulation of cell proliferation; tissue development; small molecule metabolic process; skin development; neuroprotection; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; cellular membrane organization; male genitalia development; plasminogen activation | 1p32.3 |
| DHCR7 | blood vessel development; cholesterol biosynthetic process; post-embryonic development; cell differentiation; lung development; multicellular organism growth; regulation of cell proliferation; small molecule metabolic process; regulation of cholesterol biosynthetic process | 11q13.4 |
| DHDDS | - | 1p36.11 |
| DHDH | carbohydrate metabolic process; D-xylose catabolic process | 19q13.3 |
| DHFR | - | 5q11.2-q13.2 |
| DHFRL1 | glycine biosynthetic process; one-carbon metabolic process; nucleotide biosynthetic process; thymidine biosynthetic process; tetrahydrofolate metabolic process | 3q11.1 |
| DHFRP1 | nucleotide biosynthetic process; one-carbon metabolic process; regulation of nitric-oxide synthase activity; folic acid metabolic process; tetrahydrofolate metabolic process; nitric oxide metabolic process; small molecule metabolic process; glycine biosynthetic process; mitotic cell cycle; response to methotrexate; regulation of transcription involved in G1/S phase of mitotic cell cycle; water-soluble vitamin metabolic process; vitamin metabolic process; G1/S transition of mitotic cell cycle | 18q11.2 |
| DHODH | regulation of mitochondrial fission; nucleobase-containing small molecule metabolic process; pyrimidine nucleoside biosynthetic process; small molecule metabolic process; positive regulation of apoptotic process; pyrimidine nucleotide biosynthetic process; 'de novo' pyrimidine base biosynthetic process; pyrimidine base metabolic process; UMP biosynthetic process | 16q22 |
| DHPS | protein homotetramerization; deoxyhypusine biosynthetic process from spermidine, using deoxyhypusine synthase; cellular protein metabolic process; post-translational protein modification; peptidyl-lysine modification to hypusine; positive regulation of cell proliferation; translation | 19p13.2 |
| DHRS1 | - | 14q12 |
| DHRS11 | - | 17q12 |
| DHRS12 | - | 13q14.3 |
| DHRS13 | - | 17q11.2 |
| DHRS2 | oxidation-reduction process; response to toxin; negative regulation of cell proliferation; C21-steroid hormone metabolic process; cellular response to oxidative stress; myeloid dendritic cell differentiation; negative regulation of apoptotic process | 14q11.2 |
| DHRS3 | visual perception; retinol metabolic process | 1p36.1 |
| DHRS4-AS1 | - | 14q11.2 |
| DHRS4L1 | - | 14q11.2 |
| DHRS4L2 | - | 14q11.2 |
| DHRS7 | - | 14q23.1 |
| DHRS7B | - | 17p12 |
| DHRS9 | epithelial cell differentiation; progesterone metabolic process; retinol metabolic process; 9-cis-retinoic acid biosynthetic process; androgen metabolic process | 2q31.1 |
| DHRSX | - | Xp22.33; Yp11.2 |
| DHTKD1 | tricarboxylic acid cycle; glycolysis | 10p14 |
| DHX15 | RNA splicing; mRNA processing | 4p15.3 |
| DHX16 | mRNA processing; RNA splicing | 6p21.3 |
| DHX29 | - | 5q11.2 |
| DHX30 | - | 3p21.31 |
| DHX32 | - | 10q26.2 |
| DHX33 | positive regulation of transcription from RNA polymerase I promoter | 17p13.2 |
| DHX34 | - | 19q13.3 |
| DHX35 | RNA splicing; nuclear mRNA splicing, via spliceosome | 20q11.22-q12 |
| DHX36 | - | 3q25.2 |
| DHX37 | - | 12q24.31 |
| DHX38 | nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA export from nucleus; RNA splicing; gene expression; mRNA 3'-end processing | 16q22 |
| DHX40 | - | 17q23.1 |
| DHX57 | - | 2p22.1 |
| DHX58 | innate immune response | 17q21.2 |
| DHX8 | nuclear mRNA splicing, via spliceosome; RNA processing; RNA splicing | 17q21.31 |
| DHX9 | nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; cellular response to heat; CRD-mediated mRNA stabilization | 1q25 |
| DHX9P1 | - | 13q21 |
| DIABLO | apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; induction of apoptosis by oxidative stress; induction of apoptosis by intracellular signals; induction of apoptosis; intrinsic apoptotic signaling pathway; induction of apoptosis via death domain receptors; activation of cysteine-type endopeptidase activity involved in apoptotic process | 12q24.31 |
| DIAPH1 | cellular component organization; cellular response to histamine; cytoskeleton organization; sensory perception of sound; regulation of cell shape; actin cytoskeleton organization; actin filament polymerization; regulation of release of sequestered calcium ion into cytosol; protein localization to microtubule; regulation of microtubule-based process; neuron projection development | 5q31 |
| DIAPH2 | cytokinesis; oogenesis; cell differentiation; actin filament polymerization; actin cytoskeleton organization; cellular component organization; female gamete generation; multicellular organismal development | Xq21.33 |
| DIAPH3 | actin cytoskeleton organization; cellular component organization | 13q21.2 |
| DIAPH3-AS1 | - | - |
| DIAPH3-AS2 | - | - |
| DICER1 | olfactory bulb interneuron differentiation; gene silencing by RNA; post-embryonic development; hair follicle cell proliferation; targeting of mRNA for destruction involved in RNA interference; production of siRNA involved in RNA interference; lung development; cerebral cortex development; RNA processing; nerve development; stem cell maintenance; positive regulation of Schwann cell differentiation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of gene expression; angiogenesis; negative regulation of Schwann cell proliferation; zygote asymmetric cell division; regulation of cell differentiation; hair follicle morphogenesis; positive regulation of myelination; peripheral nervous system myelin formation; embryonic hindlimb morphogenesis; production of miRNAs involved in gene silencing by miRNA; multicellular organism growth; regulation of enamel mineralization; intestinal epithelial cell development; regulation of odontogenesis of dentin-containing tooth; negative regul | 14q32.13 |
| DICER1-AS1 | - | 14q32.13 |
| DIDO1 | transcription, DNA-dependent; apoptotic process | 20q13.33 |
| DIEXF | multicellular organismal development | 1q32.2 |
| DIMT1 | - | 5q12.1 |
| DIO1 | thyroid hormone generation; cellular nitrogen compound metabolic process; hormone biosynthetic process; small molecule metabolic process | 1p33-p32 |
| DIO2 | selenocysteine incorporation; thyroid hormone generation; cellular nitrogen compound metabolic process; thyroid hormone metabolic process; hormone biosynthetic process; small molecule metabolic process | 14q24.2-q24.3 |
| DIO3 | hormone biosynthetic process; small molecule metabolic process; cellular nitrogen compound metabolic process; thyroid hormone generation | 14q32 |
| DIO3OS | - | 14q32.31 |
| DIP2A | multicellular organismal development | 21q22.3 |
| DIP2A-IT1 | - | 21q22.3 |
| DIP2B | - | 12q13.12 |
| DIP2C | - | 10p15.3 |
| DIRAS1 | small GTPase mediated signal transduction; signal transduction | 19p13.3 |
| DIRAS2 | signal transduction; small GTPase mediated signal transduction | 9q22.2 |
| DIRAS3 | small GTPase mediated signal transduction; signal transduction; regulation of gene expression by genetic imprinting; regulation of cyclin-dependent protein kinase activity; GTP catabolic process | 1p31 |
| DIRC1 | - | 2q33 |
| DIRC2 | transport | 3q21.1 |
| DIRC3 | - | 2q35 |
| DIS3 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; CUT catabolic process; rRNA catabolic process; rRNA processing; gene expression; mRNA metabolic process; RNA metabolic process | 13q22.1 |
| DIS3L | rRNA catabolic process | 15q22.31 |
| DIS3L2 | - | 2q37.1 |
| DISC1 | nervous system development; multicellular organismal development; microtubule cytoskeleton organization; neuron migration; positive regulation of neuroblast proliferation; positive regulation of Wnt receptor signaling pathway | 1q42.1 |
| DISC1-IT1 | - | 1q42.2 |
| DISC1FP1 | - | 11q14.3 |
| DISP1 | diaphragm development; determination of left/right symmetry; protein homotrimerization; regulation of protein secretion; smoothened signaling pathway; embryonic pattern specification; dorsal/ventral pattern formation; peptide transport; patched ligand maturation | 1q41 |
| DISP2 | smoothened signaling pathway | 15q15.1 |
| DIXDC1 | camera-type eye development; cerebellar cortex development; cerebral cortex radially oriented cell migration; multicellular organismal development; cell cycle; forebrain ventricular zone progenitor cell division; forebrain development; positive regulation of canonical Wnt receptor signaling pathway; regulation of actin cytoskeleton organization; negative regulation of neuron differentiation; regulation of JNK cascade; positive regulation of axonogenesis; regulation of microtubule cytoskeleton organization; Wnt receptor signaling pathway, planar cell polarity pathway | 11q23.1 |
| DKC1 | telomere maintenance; pseudouridine synthesis; rRNA processing; RNA processing; telomere maintenance via telomerase; cell proliferation | Xq28 |
| DKFZP434A062 | - | 9q34.3 |
| DKFZP434F142 | - | 7q11.21 |
| DKFZP434H168 | - | 16q12.2 |
| DKFZp434J0226 | - | 19q13.32 |
| DKFZP434L187 | - | 15q13.2 |
| DKFZp434L192 | - | 7p11.2 |
| DKFZp451B082 | - | 6q26 |
| DKFZp547J222 | - | 4p15.33 |
| DKFZp564H213 | - | 17q12 |
| DKFZp566F0947 | - | 19q12 |
| DKFZP586I1420 | - | 7p14.3 |
| DKFZp667F0711 | - | 10p15.1 |
| DKFZp686L13185 | - | 6q27 |
| DKFZP779L1853 | - | 12q13.11 |
| DKK1 | mesoderm formation; negative regulation of skeletal muscle tissue development; negative regulation of BMP signaling pathway; Wnt receptor signaling pathway involved in somitogenesis; negative regulation of canonical Wnt receptor signaling pathway; positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway; face morphogenesis; negative regulation of peptidyl-serine phosphorylation; endoderm formation; forebrain development; cell morphogenesis involved in differentiation; negative regulation of transcription from RNA polymerase II promoter; hair follicle development; response to retinoic acid; regulation of receptor internalization; negative regulation of protein complex assembly; signal transduction; multicellular organismal development; embryonic limb morphogenesis | 10q11.2 |
| DKK2 | positive regulation of canonical Wnt receptor signaling pathway; multicellular organismal development; negative regulation of canonical Wnt receptor signaling pathway | 4q25 |
| DKK3 | negative regulation of canonical Wnt receptor signaling pathway; negative regulation of transcription, DNA-dependent; negative regulation of cortisol biosynthetic process; multicellular organismal development; negative regulation of aldosterone biosynthetic process; adrenal gland development; anatomical structure morphogenesis | 11p15.2 |
| DKK4 | multicellular organismal development; negative regulation of Wnt receptor signaling pathway | 8p11.2-p11.1 |
| DKKL1 | positive regulation of fat cell differentiation; anatomical structure morphogenesis; signal transduction | 19q13.33 |
| DKKL1P1 | - | 20q11.21 |
| DLAT | regulation of acetyl-CoA biosynthetic process from pyruvate; acetyl-CoA biosynthetic process; pyruvate metabolic process; small molecule metabolic process; glycolysis; sleep | 11q23.1 |
| DLC1 | positive regulation of Rho GTPase activity; signal transduction; activation of cysteine-type endopeptidase activity involved in apoptotic process; forebrain development; negative regulation of cell migration; activation of phospholipase C activity; small GTPase mediated signal transduction; negative regulation of cell proliferation; regulation of cell shape; hindbrain morphogenesis; actin cytoskeleton organization; induction of apoptosis; cellular response to insulin stimulus; regulation of actin cytoskeleton organization; heart morphogenesis; neural tube closure; negative regulation of Rho protein signal transduction; positive regulation of protein dephosphorylation; focal adhesion assembly; regulation of small GTPase mediated signal transduction; negative regulation of stress fiber assembly | 8p22 |
| DLD | cellular nitrogen compound metabolic process; pyruvate metabolic process; tricarboxylic acid cycle; 2-oxoglutarate metabolic process; mitochondrial electron transport, NADH to ubiquinone; proteolysis; lysine catabolic process; gastrulation; aging; branched chain family amino acid catabolic process; lipoate metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; regulation of membrane potential; small molecule metabolic process; cell redox homeostasis; sperm capacitation; dihydrolipoamide metabolic process | 7q31-q32 |
| DLEC1 | negative regulation of cell proliferation | 3p21.3 |
| DLEU1 | - | 13q14.3 |
| DLEU2 | - | 13q14.3 |
| DLEU2L | - | 1p31-p22 |
| DLEU7 | - | 13q14.3 |
| DLEU7-AS1 | - | - |
| DLG1 | mitotic cell cycle G1/S transition checkpoint; interspecies interaction between organisms; negative regulation of mitotic cell cycle; tight junction assembly; protein localization in plasma membrane; cell-cell adhesion; axon guidance; synaptic transmission; establishment or maintenance of cell polarity; endothelial cell proliferation; actin filament organization; cortical actin cytoskeleton organization | 3q29 |
| DLG2 | synaptic transmission; negative regulation of phosphatase activity; sensory perception of pain; receptor clustering; neuronal ion channel clustering | 11q14.1 |
| DLG3 | negative regulation of cell proliferation; negative regulation of phosphatase activity; axon guidance; synaptic transmission | Xq13.1 |
| DLG3-AS1 | - | - |
| DLG4 | protein complex assembly; signal transduction; synaptic transmission; nervous system development; axon guidance; dendritic spine morphogenesis; establishment of protein localization; protein localization to synapse; learning; receptor localization to synapse; alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate receptor clustering | 17p13.1 |
| DLG5 | regulation of apoptotic process; intracellular signal transduction; cell-cell adhesion; negative regulation of cell proliferation; signal transduction | 10q23 |
| DLG5-AS1 | - | 10q22.3 |
| DLGAP1 | synaptic transmission | 18p11.31 |
| DLGAP1-AS1 | - | 18p11.31 |
| DLGAP1-AS2 | - | 18p11.31 |
| DLGAP1-AS3 | - | 18p11.31 |
| DLGAP1-AS5 | - | 18p11.31 |
| DLGAP3 | cell-cell signaling | 1p35.3-p34.1 |
| DLGAP4 | cell-cell signaling | 20q11.23 |
| DLGAP5 | cell cycle; M phase of mitotic cell cycle; cell-cell signaling; cell proliferation; positive regulation of mitotic metaphase/anaphase transition; mitotic chromosome movement towards spindle pole | 14q22.3 |
| DLK1 | multicellular organismal development; embryo development; post-embryonic development; embryonic skeletal system development | 14q32 |
| DLK2 | regulation of fat cell differentiation | 6p21.1 |
| DLL1 | cell fate determination; somite specification; Notch signaling pathway; Notch receptor processing; cell-cell signaling; multicellular organismal development; compartment pattern specification; neuronal stem cell maintenance; loop of Henle development; proximal tubule development; regulation of neurogenesis; inner ear development; negative regulation of neuron differentiation; negative regulation of myeloid cell differentiation; negative regulation of auditory receptor cell differentiation; regulation of cell adhesion; cell differentiation; determination of left/right symmetry; hemopoiesis | 6q27 |
| DLL3 | tissue development; cell differentiation; negative regulation of neurogenesis; positive regulation of neurogenesis; negative regulation of astrocyte differentiation; paraxial mesoderm development; negative regulation of Notch signaling pathway; skeletal system development; somitogenesis; multicellular organismal development; compartment pattern specification; central nervous system development | 19q13 |
| DLL4 | negative regulation of blood vessel endothelial cell migration; Notch signaling pathway; Notch receptor processing; multicellular organismal development; blood circulation; cell differentiation; signal transduction; angiogenesis; regulation of neurogenesis | 15q14 |
| DLST | small molecule metabolic process; cellular nitrogen compound metabolic process; metabolic process; NADH metabolic process; lysine catabolic process; 2-oxoglutarate metabolic process; tricarboxylic acid cycle; generation of precursor metabolites and energy | 14q24.3 |
| DLSTP1 | - | 1p31 |
| DLX1 | negative regulation of neuron apoptosis; negative regulation of oligodendrocyte differentiation; embryonic skeletal system development; odontogenesis of dentin-containing tooth; cell differentiation; cerebral cortex GABAergic interneuron fate commitment; regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment; forebrain neuron differentiation; hippocampus development; negative regulation of transcription from RNA polymerase II promoter; multicellular organismal development; proximal/distal pattern formation | 2q32 |
| DLX2 | branching morphogenesis of a nerve; hippocampus development; proximal/distal pattern formation; brain development; multicellular organismal development; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; cartilage development; negative regulation of oligodendrocyte differentiation; embryonic skeletal system development; embryonic cranial skeleton morphogenesis; positive regulation of transcription from RNA polymerase II promoter; odontogenesis of dentin-containing tooth; cell differentiation; olfactory bulb development; forebrain neuron differentiation; regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment; cerebral cortex GABAergic interneuron fate commitment | 2q32 |
| DLX3 | placenta development; regulation of transcription, DNA-dependent; multicellular organismal development; blood vessel development | 17q21 |
| DLX4 | regulation of transcription, DNA-dependent; multicellular organismal development | 17q21.33 |
| DLX5 | axon guidance; anatomical structure formation involved in morphogenesis; skeletal system development; embryonic limb morphogenesis; positive regulation of epithelial cell proliferation; palate development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of osteoblast differentiation; ear development; inner ear morphogenesis; specification of segmental identity, mandibular segment; epithelial cell differentiation; osteoblast differentiation; olfactory pit development; head development; face morphogenesis; bone morphogenesis; positive regulation of canonical Wnt receptor signaling pathway; cell proliferation; nervous system development; multicellular organismal development; endochondral ossification | 7q22 |
| DLX6 | skeletal system development; embryonic limb morphogenesis; epithelial cell differentiation; specification of segmental identity, mandibular segment; inner ear morphogenesis; anatomical structure formation involved in morphogenesis; positive regulation of epithelial cell proliferation; palate development; head development; regulation of transcription, DNA-dependent; multicellular organismal development; nervous system development | 7q22 |
| DLX6-AS1 | - | 7q21.3 |
| DMAP1 | histone H4 acetylation; positive regulation of transcription factor import into nucleus; regulation of growth; chromatin modification; DNA methylation; negative regulation of transcription from RNA polymerase II promoter; histone H2A acetylation; negative regulation of transcription, DNA-dependent | 1p34 |
| DMBT1 | positive regulation of epithelial cell differentiation; blastocyst development; inner cell mass cell proliferation; pattern recognition receptor signaling pathway; multicellular organismal development; response to wounding; response to virus; response to organic substance; protein transport; epithelial cell differentiation; tissue regeneration; induction of bacterial agglutination; response to estrogen stimulus; interspecies interaction between organisms; innate immune response | 10q26.13 |
| DMBT1P1 | - | 10q26.13 |
| DMBX1 | central nervous system development; multicellular organismal development; brain development; negative regulation of transcription, DNA-dependent; developmental growth | 1p33 |
| DMC1 | oocyte maturation; male meiosis I; spermatogenesis; spermatid development; pachytene; female gamete generation; reciprocal meiotic recombination; meiosis; cell cycle; DNA metabolic process; ovarian follicle development | 22q13.1 |
| DMD | olfactory nerve structural organization; neuron projection morphogenesis; muscle cell homeostasis; neurotransmitter receptor metabolic process; peptide biosynthetic process; regulation of transcription, DNA-dependent; muscle organ development; skeletal muscle tissue development; muscle filament sliding | Xp21.2 |
| DMGDH | choline metabolic process; glycine metabolic process; glycine catabolic process | 5q14.1 |
| DMKN | - | 19q13.12 |
| DMPK | regulation of sodium ion transport; protein phosphorylation; cellular calcium ion homeostasis; nuclear envelope organization; regulation of heart contraction; muscle cell apoptosis; regulation of myotube differentiation; regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction | 19q13.3 |
| DMRT1 | sex determination; regulation of transcription, DNA-dependent; multicellular organismal development; sex differentiation; male gonad development; intracellular signal transduction; cell differentiation | 9p24.3 |
| DMRT2 | male gonad development; sex differentiation; sex determination; regulation of transcription, DNA-dependent | 9p24.3 |
| DMRT3 | multicellular organismal development; sex differentiation; cell differentiation; regulation of transcription, DNA-dependent | 9p24.3 |
| DMRTA1 | regulation of transcription, DNA-dependent; sex differentiation; cell differentiation | 9p21.3 |
| DMRTA2 | sex differentiation; regulation of transcription, DNA-dependent | 1p32.3 |
| DMRTB1 | sex differentiation; regulation of transcription, DNA-dependent | 1p32.3 |
| DMRTC1 | - | Xq13.2 |
| DMRTC1B | regulation of transcription, DNA-dependent | Xq13.2 |
| DMRTC2 | cell differentiation; sex differentiation; regulation of transcription, DNA-dependent | 19q13.2 |
| DMTF1 | regulation of transcription, DNA-dependent; cell cycle | 7q21 |
| DMTN | - | 8p21.1 |
| DMWD | meiosis | 19q13.3 |
| DMXL1 | - | 5q22 |
| DMXL2 | - | 15q21.2 |
| DNA2 | telomere maintenance via semi-conservative replication; positive regulation of DNA replication; mitochondrial DNA repair; DNA replication, removal of RNA primer; base-excision repair; DNA strand elongation involved in DNA replication; mitochondrial DNA replication; ATP catabolic process; telomere maintenance; telomere maintenance via recombination; mitotic cell cycle; S phase of mitotic cell cycle | 10q21.3-q22.1 |
| DNAAF1 | axonemal dynein complex assembly; cilium morphogenesis | 16q24.1 |
| DNAAF2 | response to retinoic acid; ciliary cell motility; response to chemical stimulus; flagellar cell motility; axonemal dynein complex assembly | 14q21.3 |
| DNAAF3 | - | 19q13.4 |
| DNAAF5 | - | 7p22.3 |
| DNAH1 | response to mechanical stimulus; microtubule-based movement; ciliary or flagellar motility | 3p21.1 |
| DNAH10 | microtubule-based movement | 12q24.31 |
| DNAH10OS | - | 12q24.31 |
| DNAH11 | ciliary or flagellar motility; microtubule-based movement; determination of left/right symmetry; metabolic process | 7p21 |
| DNAH12 | microtubule-based movement | 3p14.3 |
| DNAH14 | microtubule-based movement | 1q42.12 |
| DNAH17 | ciliary or flagellar motility; microtubule-based movement | 17q25.3 |
| DNAH17-AS1 | - | - |
| DNAH2 | ciliary or flagellar motility; microtubule-based movement | 17p13.1 |
| DNAH3 | microtubule-based movement; ciliary or flagellar motility | 16p12.3 |
| DNAH5 | ciliary or flagellar motility; microtubule-based movement; metabolic process | 5p15.2 |
| DNAH6 | microtubule-based movement | 2p11.2 |
| DNAH7 | microtubule-based movement; ciliary or flagellar motility | 2q32.3 |
| DNAH8 | ciliary or flagellar motility; microtubule-based movement | 6p21.2 |
| DNAH9 | cell projection organization; spermatogenesis; microtubule-based movement; cellular component movement | 17p12 |
| DNAI1 | cell projection organization | 9p13.3 |
| DNAI2 | cell projection organization; cilium assembly | 17q25 |
| DNAJA1 | protein folding; response to unfolded protein; spermatogenesis; response to heat; sperm motility; androgen receptor signaling pathway | 9p13.3 |
| DNAJA1P3 | - | Xq22.3 |
| DNAJA1P5 | - | 1p22 |
| DNAJA2 | protein folding; positive regulation of cell proliferation; response to heat | 16q12.1 |
| DNAJA3 | negative regulation of interferon-gamma-mediated signaling pathway; skeletal muscle acetylcholine-gated channel clustering; neuromuscular junction development; small GTPase mediated signal transduction; mitochondrion organization; activation-induced cell death of T cells; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; negative regulation of protein kinase activity; protein folding; mitochondrial DNA replication; negative regulation of transcription from RNA polymerase II promoter; cell aging; regulation of catalytic activity; cell death; negative regulation of cell proliferation; response to heat; embryo development; positive regulation of protein ubiquitination; negative regulation of NF-kappaB transcription factor activity; T cell differentiation in thymus; response to interferon-gamma; positive regulation of T cell proliferation; positive regulation of apoptotic process; negative regulation of apoptotic process; negative regulation of I-kappaB kinase/NF | 16p13.3 |
| DNAJA4 | response to heat; protein folding | 15q25.1 |
| DNAJB1 | response to stress; chaperone cofactor-dependent protein refolding; chaperone mediated protein folding requiring cofactor; response to unfolded protein; protein folding | 19p13.2 |
| DNAJB11 | activation of signaling protein activity involved in unfolded protein response; protein folding; mRNA modification; endoplasmic reticulum unfolded protein response | 3q27.3 |
| DNAJB12 | protein folding | 10q22.1 |
| DNAJB13 | protein folding; spermatogenesis; apoptotic process | 11q13.4 |
| DNAJB14 | protein folding | 4q23 |
| DNAJB2 | negative regulation of cell growth; negative regulation of protein deubiquitination; protein folding; response to unfolded protein; negative regulation of cell proliferation; ER-associated protein catabolic process; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of inclusion body assembly; positive regulation of protein ubiquitination | 2q32-q34 |
| DNAJB4 | response to heat; protein folding; response to unfolded protein | 1p31.1 |
| DNAJB5 | response to unfolded protein; negative regulation of transcription from RNA polymerase II promoter; protein folding | 9p13.3 |
| DNAJB5-AS1 | - | - |
| DNAJB6 | intermediate filament organization; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; protein folding; response to unfolded protein; positive regulation of ATPase activity | 7q36.3 |
| DNAJB7 | protein folding | 22q13.2 |
| DNAJB8-AS1 | - | 3q21.3 |
| DNAJB9 | endoplasmic reticulum unfolded protein response; ER-associated protein catabolic process; activation of signaling protein activity involved in unfolded protein response; protein folding | 7q31|14q24.2-q24.3 |
| DNAJC1 | regulation of transcription, DNA-dependent; regulation of translation; protein folding; positive regulation of ATPase activity; negative regulation of proteolysis; regulation of protein secretion | 10p12.31 |
| DNAJC10 | apoptosis in response to endoplasmic reticulum stress; glycerol ether metabolic process; protein folding; negative regulation of protein phosphorylation; ER-associated protein catabolic process; positive regulation of ATPase activity; response to endoplasmic reticulum stress; cell redox homeostasis; oxidation-reduction process | 2q32.1 |
| DNAJC11 | protein folding | 1p36.31 |
| DNAJC12 | protein folding | 10q22.1 |
| DNAJC13 | - | 3q22.1 |
| DNAJC14 | protein folding; protein transport | 12q13.2 |
| DNAJC15 | - | 13q14.1 |
| DNAJC16 | cell redox homeostasis; protein folding | 1p36.1 |
| DNAJC17 | protein folding | 15q15.1 |
| DNAJC18 | protein folding | 5q31.2 |
| DNAJC19 | genitalia development; protein transport; visual perception; protein targeting to mitochondrion; protein folding | 3q26.33 |
| DNAJC19P1 | - | 10q21.3 |
| DNAJC19P5 | - | 2q |
| DNAJC19P6 | - | 6q |
| DNAJC2 | G2 phase of mitotic cell cycle; DNA replication; chromatin modification; negative regulation of cell growth; positive regulation of transcription, DNA-dependent; 'de novo' cotranslational protein folding | 7q22 |
| DNAJC21 | protein folding | 5p13.2 |
| DNAJC22 | protein folding | 12q13.12 |
| DNAJC24 | protein folding | 11p13 |
| DNAJC25 | protein folding | 9q31.3 |
| DNAJC25-GNG10 | - | 9q31.3 |
| DNAJC27 | small GTPase mediated signal transduction; protein folding | 2p23.3 |
| DNAJC27-AS1 | - | 2p23.3 |
| DNAJC28 | - | 21q22.11 |
| DNAJC3 | endoplasmic reticulum unfolded protein response; protein folding; response to unfolded protein; activation of signaling protein activity involved in unfolded protein response; response to virus; proteolysis involved in cellular protein catabolic process | 13q32.1 |
| DNAJC3-AS1 | - | 13q32.1 |
| DNAJC30 | protein folding | 7q11.23 |
| DNAJC4 | response to unfolded protein; protein folding | 11q13 |
| DNAJC5 | neurotransmitter secretion; cell death; negative regulation of neuron apoptosis; synaptic transmission; protein folding | 20q13.33 |
| DNAJC5B | protein folding | 8q13.1 |
| DNAJC5G | protein folding | 2p23.3 |
| DNAJC6 | post-Golgi vesicle-mediated transport; cellular membrane organization | 1p31.3 |
| DNAJC7 | chaperone cofactor-dependent protein refolding; protein folding | 17q11.2 |
| DNAJC8 | gene expression; nuclear mRNA splicing, via spliceosome; RNA splicing; protein folding | 1p35.3 |
| DNAJC8P1 | - | 14q13.2 |
| DNAJC9 | protein folding; social behavior | 10q22.2 |
| DNAJC9-AS1 | - | 10q22.2 |
| DNAL1 | - | 14q24.3 |
| DNAL4 | microtubule-based movement; nerve growth factor receptor signaling pathway | 22q13.1 |
| DNALI1 | cellular component movement; single fertilization | 1p35.1 |
| DNASE1 | DNA catabolic process; apoptotic process | 16p13.3 |
| DNASE1L1 | DNA metabolic process; DNA catabolic process | Xq28 |
| DNASE1L2 | DNA metabolic process; DNA catabolic process | 16p13.3 |
| DNASE1L3 | DNA metabolic process; DNA catabolic process; DNA fragmentation involved in apoptotic nuclear change; apoptotic process | 3p14.3 |
| DNASE2 | multicellular organismal development; apoptotic process; DNA catabolic process; DNA metabolic process; metabolic process; erythrocyte differentiation | 19p13.2 |
| DNASE2B | metabolic process; DNA metabolic process | 1p22.3 |
| DND1 | germ cell development; negative regulation of gene silencing by miRNA; multicellular organismal development | 5q31.3 |
| DND1P2 | - | 17q21.31 |
| DNER | Notch receptor processing; central nervous system development; Notch signaling pathway; neuron migration; glial cell differentiation; synapse assembly; skeletal muscle fiber development; endocytosis | 2q36.3 |
| DNHD1 | microtubule-based movement | 11p15.4 |
| DNLZ | - | 9q34.3 |
| DNM1 | GTP catabolic process; receptor-mediated endocytosis; endosome organization; endocytosis | 9q34 |
| DNM1L | peroxisome fission; dynamin polymerization involved in mitochondrial fission; apoptotic process; cellular component disassembly involved in apoptosis; mitochondrial fragmentation involved in apoptosis; positive regulation of protein secretion; positive regulation of mitochondrial fission; membrane fission involved in mitochondrial fission; positive regulation of intrinsic apoptotic signaling pathway | 12p11.21 |
| DNM1P17 | - | 10p11.23 |
| DNM1P26 | - | Yq11.23 |
| DNM1P30 | - | 15q13.2 |
| DNM1P31 | - | 15q13.3 |
| DNM1P32 | - | 15q13.3 |
| DNM1P33 | - | 15q23 |
| DNM1P34 | - | 15q24.2 |
| DNM1P35 | - | 15q24.2 |
| DNM1P41 | - | 15q25.2 |
| DNM1P46 | - | 15q26.3 |
| DNM1P47 | - | 15q26.3 |
| DNM1P5 | - | 15q14 |
| DNM1P50 | - | - |
| DNM2 | synaptic vesicle transport; G2/M transition of mitotic cell cycle; GTP catabolic process; regulation of transcription, DNA-dependent; post-Golgi vesicle-mediated transport; endocytosis; signal transduction; cellular membrane organization; receptor internalization; transferrin transport; positive regulation of apoptotic process; positive regulation of transcription, DNA-dependent | 19p13.2 |
| DNM3 | synapse assembly; endocytosis; GTP catabolic process; filopodium assembly | 1q24.3 |
| DNM3-IT1 | - | - |
| DNM3OS | - | 1q24.3 |
| DNMBP | intracellular signal transduction; regulation of Rho protein signal transduction | 10q24.2 |
| DNMBP-AS1 | - | 10q24.2 |
| DNMT1 | C-5 methylation of cytosine; cellular response to amino acid stimulus; negative regulation of histone H3-K9 methylation; positive regulation of histone H3-K4 methylation; regulation of cell proliferation; chromatin modification; gene silencing; positive regulation of gene expression; maintenance of DNA methylation; DNA methylation; negative regulation of transcription from RNA polymerase II promoter | 19p13.2 |
| DNMT3A | DNA methylation; negative regulation of transcription from RNA polymerase II promoter; S-adenosylhomocysteine metabolic process; S-adenosylmethioninamine metabolic process; cellular response to amino acid stimulus; hypermethylation of CpG island; DNA methylation involved in gamete generation; DNA methylation involved in embryo development; chromatin modification; DNA methylation on cytosine within a CG sequence; spermatogenesis; regulation of gene expression by genetic imprinting; methylation-dependent chromatin silencing; C-5 methylation of cytosine | 2p23 |
| DNMT3AP1 | - | 2p14 |
| DNMT3B | negative regulation of histone H3-K9 methylation; C-5 methylation of cytosine; cellular response to amino acid stimulus; response to drug; negative regulation of transcription from RNA polymerase II promoter; DNA methylation; methylation-dependent chromatin silencing; regulation of gene expression by genetic imprinting; response to ionizing radiation; DNA methylation on cytosine within a CG sequence; positive regulation of gene expression; protein complex localization; positive regulation of histone H3-K4 methylation; DNA methylation involved in embryo development; positive regulation of neuron differentiation; negative regulation of gene expression, epigenetic; S-adenosylhomocysteine metabolic process; S-adenosylmethioninamine metabolic process | 20q11.2 |
| DNMT3L | spermatogenesis; regulation of gene expression by genetic imprinting; DNA methylation; positive regulation of catalytic activity; in utero embryonic development; negative regulation of transcription, DNA-dependent | 21q22.3 |
| DNPEP | proteolysis; peptide metabolic process | 2q35 |
| DNPH1 | - | 6p21.1 |
| DNTT | DNA modification | 10q23-q24 |
| DNTTIP1 | - | 20q13.12 |
| DNTTIP2 | regulation of transcription, DNA-dependent | 1p22.1 |
| DOC2A | synaptic transmission; nervous system development; synaptic vesicle exocytosis; regulation of calcium ion-dependent exocytosis | 16p11.2 |
| DOC2B | protein localization; positive regulation of insulin secretion; positive regulation of calcium ion-dependent exocytosis; calcium ion-dependent exocytosis of neurotransmitter; positive regulation of vesicle fusion; exocytosis | 17p13.3 |
| DOC2GP | - | 11q13.2 |
| DOCK1 | phagocytosis, engulfment; positive regulation of GTPase activity; cell migration; blood coagulation; axon guidance; small GTPase mediated signal transduction; integrin-mediated signaling pathway; signal transduction; apoptotic process | 10q26.13-q26.3 |
| DOCK10 | regulation of catalytic activity | 2q36.2 |
| DOCK11 | regulation of catalytic activity; blood coagulation | Xq24 |
| DOCK11P1 | - | 14q21.2 |
| DOCK2 | membrane raft polarization; establishment of T cell polarity; immunological synapse formation; chemotaxis; viral reproduction; actin cytoskeleton organization; positive thymic T cell selection; negative thymic T cell selection; alpha-beta T cell proliferation; regulation of defense response to virus by virus | 5q35.1 |
| DOCK3 | - | 3p21.2 |
| DOCK4 | positive regulation of Rac GTPase activity; cell chemotaxis | 7q31.1 |
| DOCK5 | - | 8p21.2 |
| DOCK6 | blood coagulation | 19p13.2 |
| DOCK7 | microtubule cytoskeleton organization; positive regulation of peptidyl-serine phosphorylation; multicellular organismal development; nervous system development; axonogenesis; establishment of neuroblast polarity; cell differentiation; neuron projection development; activation of Rac GTPase activity | 1p31.3 |
| DOCK8 | blood coagulation | 9p24.3 |
| DOCK9 | blood coagulation | 13q32.3 |
| DOCK9-AS1 | - | - |
| DOCK9-AS2 | - | 13q32.3 |
| DOHH | cellular protein metabolic process; post-translational protein modification; peptidyl-lysine modification to hypusine | 19p13.3 |
| DOK1 | intracellular protein kinase cascade; cell surface receptor signaling pathway; insulin receptor signaling pathway; Ras protein signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction | 2p13 |
| DOK2 | leukocyte migration; blood coagulation; Ras protein signal transduction; signal transduction; cell surface receptor signaling pathway | 8p21.3 |
| DOK3 | Ras protein signal transduction | 5q35.3 |
| DOK4 | transmembrane receptor protein tyrosine kinase signaling pathway; MAPK cascade; nervous system development | 16q21 |
| DOK5 | nervous system development; MAPK cascade; transmembrane receptor protein tyrosine kinase signaling pathway | 20q13.2 |
| DOK6 | - | 18q22.2 |
| DOK7 | positive regulation of protein tyrosine kinase activity | 4p16.3 |
| DOLK | cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; post-translational protein modification; dolichyl monophosphate biosynthetic process; protein N-linked glycosylation via asparagine; dolichyl diphosphate biosynthetic process | 9q34.11 |
| DOLPP1 | post-translational protein modification; cellular protein metabolic process; protein N-linked glycosylation via asparagine; dolichyl diphosphate biosynthetic process; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation | 9q34.1 |
| DONSON | multicellular organismal development | 21q22.1 |
| DOPEY1 | Golgi to endosome transport; endoplasmic reticulum organization; protein transport | 6q15 |
| DOPEY2 | Golgi to endosome transport; endoplasmic reticulum organization; multicellular organismal development; protein transport | 21q22.2 |
| DOT1L | chromatin modification; histone lysine methylation; regulation of JAK-STAT cascade; regulation of transcription regulatory region DNA binding | 19p13.3 |
| DPAGT1 | protein N-linked glycosylation; protein oligomerization; cellular protein metabolic process; post-translational protein modification; dolichol biosynthetic process; protein N-linked glycosylation via asparagine; metabolic process; dolichol-linked oligosaccharide biosynthetic process; UDP-N-acetylglucosamine metabolic process | 11q23.3 |
| DPCD | - | 10q24.32 |
| DPCR1 | - | 6p21.33 |
| DPEP1 | negative regulation of cell migration; cellular response to drug; negative regulation of apoptotic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; proteolysis; glutathione metabolic process; antibiotic metabolic process; cellular response to calcium ion; homocysteine metabolic process; cellular lactam catabolic process; cellular response to nitric oxide | 16q24.3 |
| DPEP2 | small molecule metabolic process; leukotriene biosynthetic process; prostanoid metabolic process; proteolysis | 16q22.1 |
| DPEP3 | meiosis; proteolysis | 16q22.1 |
| DPF1 | nervous system development; induction of apoptosis; regulation of transcription, DNA-dependent | 19q13.2 |
| DPF2 | regulation of transcription, DNA-dependent; induction of apoptosis by extracellular signals; induction of apoptosis; apoptotic process | 11q13 |
| DPF3 | regulation of transcription, DNA-dependent; nervous system development; chromatin modification | 14q24.2 |
| DPH1 | translation; cell proliferation; peptidyl-diphthamide biosynthetic process from peptidyl-histidine | 17p13.3 |
| DPH2 | peptidyl-diphthamide biosynthetic process from peptidyl-histidine | 1p34 |
| DPH3 | positive regulation of binding; peptidyl-diphthamide biosynthetic process from peptidyl-histidine; negative regulation of protein secretion | 3p25.1 |
| DPH3P1 | - | 20q13.33 |
| DPH5 | peptidyl-diphthamide biosynthetic process from peptidyl-histidine; metabolic process | 1p21.2 |
| DPH6 | - | 15q14 |
| DPH7 | - | 9q34.3 |
| DPM1 | protein N-linked glycosylation via asparagine; dolichol-linked oligosaccharide biosynthetic process; C-terminal protein lipidation; GPI anchor biosynthetic process; dolichol metabolic process; GDP-mannose metabolic process; protein mannosylation; protein O-linked mannosylation; post-translational protein modification; cellular protein metabolic process | 20q13.13 |
| DPM2 | GPI anchor biosynthetic process; macromolecule biosynthetic process; preassembly of GPI anchor in ER membrane; protein N-linked glycosylation via asparagine; cellular protein metabolic process; post-translational protein modification; C-terminal protein lipidation; protein O-linked mannosylation; dolichol-linked oligosaccharide biosynthetic process; regulation of protein stability | 9q34.13 |
| DPM3 | GPI anchor biosynthetic process; C-terminal protein lipidation; dolichol-linked oligosaccharide biosynthetic process; cellular protein metabolic process; carbohydrate metabolic process; protein N-linked glycosylation via asparagine; protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan; regulation of protein stability; post-translational protein modification; protein O-linked mannosylation; protein mannosylation | 1q22 |
| DPP10 | proteolysis | 2q14.1 |
| DPP10-AS1 | - | 2q14.1 |
| DPP10-AS3 | - | 2q14.1 |
| DPP3 | proteolysis | 11q12-q13.1 |
| DPP4 | cell adhesion; establishment of localization; endothelial cell migration; T cell activation; regulation of cell-cell adhesion mediated by integrin; T cell costimulation; negative regulation of extracellular matrix disassembly; positive regulation of cell proliferation; proteolysis; regulation of T cell mediated immunity; response to hypoxia | 2q24.3 |
| DPP6 | proteolysis; cell death | 7q36.2 |
| DPP7 | proteolysis | 9q34.3 |
| DPP8 | immune response; proteolysis | 15q22 |
| DPP9 | proteolysis | 19p13.3 |
| DPP9-AS1 | - | 19p13.3 |
| DPPA2P1 | - | - |
| DPPA2P3 | - | 3q29 |
| DPPA2P4 | - | 16q13 |
| DPPA4 | multicellular organismal development | 3q13.13 |
| DPPA5P2 | - | - |
| DPRXP1 | - | 2q32.1 |
| DPRXP4 | - | 17q11.2 |
| DPRXP6 | - | Xp11.4 |
| DPT | cell adhesion; negative regulation of cell proliferation; collagen fibril organization | 1q12-q23 |
| DPY19L1 | - | 7p14.3-p14.2 |
| DPY19L1P1 | - | 7p14.3 |
| DPY19L2 | multicellular organismal development; spermatid development; cell differentiation; spermatogenesis | 12q14.2 |
| DPY19L2P1 | - | 7p14.2 |
| DPY19L2P2 | - | 7q22.1 |
| DPY19L2P3 | - | 7p15.1 |
| DPY19L2P4 | - | 7q21.13 |
| DPY19L3 | - | 19q13.11 |
| DPY19L4 | - | 8q22.1 |
| DPY30 | regulation of transcription, DNA-dependent; endosome transport; chromatin modification; histone H3-K4 methylation | 2p22.3 |
| DPYD | thymidine catabolic process; nucleobase-containing small molecule metabolic process; pyrimidine nucleoside catabolic process; small molecule metabolic process; UMP biosynthetic process; uracil catabolic process; thymine catabolic process; pyrimidine base catabolic process; pyrimidine base metabolic process; purine base catabolic process | 1p22 |
| DPYD-IT1 | - | - |
| DPYS | nucleobase-containing small molecule metabolic process; protein homotetramerization; pyrimidine nucleoside catabolic process; small molecule metabolic process; uracil catabolic process; thymine catabolic process; pyrimidine base catabolic process; pyrimidine base metabolic process; beta-alanine metabolic process | 8q22 |
| DPYSL2 | positive regulation of glutamate secretion; synaptic vesicle transport; regulation of neuron differentiation; response to drug; response to cocaine; cell differentiation; olfactory bulb development; spinal cord development; brain development; axon guidance; nervous system development; multicellular organismal development; signal transduction; cytoskeleton organization; pyrimidine base catabolic process; nucleobase-containing compound metabolic process; response to amphetamine | 8p22-p21 |
| DPYSL3 | axon guidance; cellular response to cytokine stimulus; actin crosslink formation; positive regulation of filopodium assembly; protein homooligomerization; actin filament bundle assembly; negative regulation of cell migration; negative regulation of neuron projection development; positive regulation of neuron projection development; pyrimidine base catabolic process; response to axon injury | 5q32 |
| DPYSL4 | pyrimidine base catabolic process; nervous system development; axon guidance | 10q26 |
| DPYSL5 | axon guidance; neuron differentiation; nervous system development; signal transduction; pyrimidine base catabolic process | 2p23.3 |
| DQX1 | - | 2p13.1 |
| DR1 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; histone H3 acetylation | 1p22.1 |
| DRAIC | - | 15q23 |
| DRAM1 | autophagy; apoptotic process | 12q23.2 |
| DRAM2 | induction of apoptosis; apoptotic process | 1p13.3 |
| DRAP1 | negative regulation of transcription from RNA polymerase II promoter | 11q13.3 |
| DRAXIN | - | 1p36.22 |
| DRC1 | - | 2p23.3 |
| DRC3 | - | 17p11.2 |
| DRC7 | spermatogenesis; ciliary or flagellar motility; cell differentiation | 16q21 |
| DRD1 | synaptic transmission, dopaminergic; behavioral fear response; conditioned taste aversion; temperature homeostasis; response to amphetamine; negative regulation of protein kinase activity; protein import into nucleus; intracellular protein transport; muscle contraction; G-protein signaling, coupled to cyclic nucleotide second messenger; activation of adenylate cyclase activity by G-protein signaling pathway; behavioral response to cocaine; operant conditioning; regulation of dopamine metabolic process; negative regulation of circadian sleep/wake cycle, sleep; dopamine metabolic process; response to drug; eating behavior; positive regulation of potassium ion transport; regulation of ion transport; glucose import; sensitization; activation of adenylate cyclase activity by dopamine receptor signaling pathway; regulation of long-term neuronal synaptic plasticity; positive regulation of release of sequestered calcium ion into cytosol; elevation of cytosolic calcium ion concentration involved in G-protein signaling | 5q35.1 |
| DRD2 | cerebral cortex GABAergic interneuron migration; Wnt receptor signaling pathway; regulation of dopamine secretion; response to iron ion; response to toxin; response to light stimulus; visual learning; associative learning; negative regulation of cell proliferation; protein localization; feeding behavior; adenohypophysis development; negative regulation of cell migration; peristalsis; regulation of cAMP metabolic process; forebrain development; auditory behavior; activation of protein kinase activity; regulation of synaptic transmission, GABAergic; circadian regulation of gene expression; response to histamine; response to nicotine; positive regulation of urine volume; G-protein signaling, coupled to cAMP nucleotide second messenger; temperature homeostasis; response to hypoxia; synaptic transmission, dopaminergic; response to amphetamine; neurological system process involved in regulation of systemic arterial blood pressure; regulation of heart rate; regulation of sodium ion transport; G-protein coupled recep | 11q23 |
| DRD3 | learning; positive regulation of transcription from RNA polymerase II promoter; positive regulation of mitosis; negative regulation of blood pressure; response to ethanol; regulation of circadian sleep/wake cycle, sleep; response to morphine; response to drug; dopamine metabolic process; response to cocaine; regulation of multicellular organism growth; acid secretion; behavioral response to cocaine; negative regulation of oligodendrocyte differentiation; arachidonic acid secretion; negative regulation of protein secretion; musculoskeletal movement, spinal reflex action; regulation of dopamine uptake; negative regulation of protein kinase B signaling cascade; prepulse inhibition; negative regulation of dopamine receptor signaling pathway; positive regulation of dopamine receptor signaling pathway; social behavior; negative regulation of transcription from RNA polymerase II promoter; synaptic transmission, dopaminergic; response to amphetamine; regulation of blood volume by renin-angiotensin; G-protein coupled | 3q13.3 |
| DRD4 | response to histamine; positive regulation of kinase activity; positive regulation of sodium:hydrogen antiporter activity; negative regulation of cAMP biosynthetic process; olfactory learning; adult locomotory behavior; short-term memory; dopamine receptor signaling pathway; inhibition of adenylate cyclase activity by dopamine receptor signaling pathway; negative regulation of adenylate cyclase activity; cellular calcium ion homeostasis; response to amphetamine; synaptic transmission, dopaminergic; behavioral fear response; activation of MAPK activity; regulation of dopamine metabolic process; social behavior; regulation of inhibitory postsynaptic membrane potential; negative regulation of calcium ion transport via voltage-gated calcium channel activity; positive regulation of dopamine uptake; regulation of calcium-mediated signaling; negative regulation of protein secretion; behavioral response to ethanol; behavioral response to cocaine; regulation of neurotransmitter secretion; fear response; dopamine metab | 11p15.5 |
| DRD5P2 | - | 1q21.1 |
| DRG1 | transcription, DNA-dependent; multicellular organismal development | 22q12.2 |
| DRG2 | signal transduction | 17p11.2 |
| DRGX | multicellular organismal development | 10q11.23 |
| DRICH1 | - | 22q11.2 |
| DROSHA | ribosome biogenesis; gene silencing by RNA; rRNA catabolic process; RNA processing | 5p13.3 |
| DRP2 | central nervous system development | Xq22 |
| DSC1 | cell adhesion; homophilic cell adhesion | 18q12.1 |
| DSC2 | cell adhesion; homophilic cell adhesion | 18q12.1 |
| DSC3 | cell adhesion; homophilic cell adhesion; protein stabilization | 18q12.1 |
| DSCAM | dendrite self-avoidance; post-embryonic retina morphogenesis in camera-type eye; nervous system development; positive regulation of axon extension involved in axon guidance; dendrite morphogenesis; locomotory behavior; negative regulation of cell adhesion; cell adhesion; positive regulation of phosphorylation | 21q22.2 |
| DSCAM-AS1 | - | - |
| DSCAM-IT1 | - | - |
| DSCAML1 | dorsal/ventral pattern formation; embryonic skeletal system morphogenesis; dendrite self-avoidance; brain development; central nervous system development; axonogenesis; negative regulation of cell adhesion; cell fate determination; homophilic cell adhesion | 11q23 |
| DSCC1 | cell cycle; post-translational protein acetylation; maintenance of mitotic sister chromatid cohesion; regulation of DNA replication | 8q24.12 |
| DSCR10 | - | 21q22.13 |
| DSCR3 | vacuolar transport | 21q22.2 |
| DSCR4 | - | 21q22.2 |
| DSCR8 | - | 21q22.2 |
| DSCR9 | - | 21q22.13 |
| DSE | dermatan sulfate biosynthetic process | 6q22 |
| DSEL | - | 18q22.1 |
| DSERG1 | - | - |
| DSG1 | apoptotic process; cellular component disassembly involved in apoptosis; cell-cell junction assembly; homophilic cell adhesion; cell-cell adhesion; calcium-dependent cell-cell adhesion; protein stabilization | 18q12.1 |
| DSG2 | cellular component disassembly involved in apoptosis; execution phase of apoptosis; homophilic cell adhesion; cell adhesion; apoptotic process | 18q12.1 |
| DSG2-AS1 | - | - |
| DSG3 | apoptotic process; cellular component disassembly involved in apoptosis; cell adhesion; homophilic cell adhesion | 18q12.1 |
| DSG4 | homophilic cell adhesion; cell adhesion | 18q12.1 |
| DSN1 | cell division; chromosome segregation; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 20q11.23 |
| DSP | epidermis development; skin development; wound healing; adherens junction organization; keratinocyte differentiation; cell-cell adhesion; cellular component disassembly involved in apoptosis; apoptotic process; peptide cross-linking | 6p24 |
| DSPP | skeletal system development; ossification; multicellular organismal development; biomineral tissue development; cellular response to cell-matrix adhesion | 4q21.3 |
| DST | intermediate filament cytoskeleton organization; cell motility; intracellular transport; hemidesmosome assembly; cytoplasmic microtubule organization; regulation of microtubule polymerization or depolymerization; maintenance of cell polarity; cytoskeleton organization; cell cycle arrest; cell adhesion; integrin-mediated signaling pathway; axonogenesis; retrograde axon cargo transport; response to wounding; microtubule cytoskeleton organization | 6p12.1 |
| DSTN | cytokinesis; cellular component movement; actin polymerization or depolymerization; positive regulation of actin filament depolymerization; actin filament severing | 20p12.1 |
| DSTNP2 | - | 12p13 |
| DSTNP3 | - | 8q21.11 |
| DSTYK | - | 1q32.1 |
| DTD1 | D-amino acid catabolic process | 20p11.23 |
| DTD2 | - | 14q12 |
| DTHD1 | signal transduction | 4p14 |
| DTL | protein polyubiquitination; DNA replication; ubiquitin-dependent protein catabolic process; protein monoubiquitination; response to DNA damage stimulus; response to UV; translesion synthesis; G2/M transition DNA damage checkpoint; regulation of cell cycle | 1q32 |
| DTNA | neuromuscular synaptic transmission; synaptic transmission; signal transduction; striated muscle contraction | 18q12 |
| DTNB | - | 2p24 |
| DTNBP1 | neuron projection morphogenesis; neuron projection development; cellular membrane organization; blood coagulation; organelle organization; post-Golgi vesicle-mediated transport; actin cytoskeleton reorganization; response to stimulus; platelet dense granule organization; regulation of dopamine receptor signaling pathway | 6p22.3 |
| DTWD1 | - | 15q21.2 |
| DTWD2 | - | 5q23.1 |
| DTX1 | transcription, DNA-dependent; transcription from RNA polymerase II promoter; cell surface receptor signaling pathway; regulation of Notch signaling pathway; glial cell differentiation; negative regulation of T cell differentiation; negative regulation of neuron differentiation | 12q24.13 |
| DTX2 | Notch signaling pathway | 7q11.23 |
| DTX2P1-UPK3BP1-PMS2P11 | - | 7q11.23 |
| DTX3 | Notch signaling pathway | 12q13.3 |
| DTX3L | response to DNA damage stimulus; histone monoubiquitination; chromatin modification | 3q21.1 |
| DTX4 | Notch signaling pathway | 11q12.1 |
| DTYMK | cellular response to growth factor stimulus; nucleobase-containing small molecule metabolic process; nucleoside monophosphate phosphorylation; small molecule metabolic process; nucleobase-containing small molecule interconversion; cell proliferation; cell cycle; dTDP biosynthetic process | 2q37.3 |
| DUBR | - | 3q13.12 |
| DUOX1 | oxidation-reduction process; response to oxidative stress; cytokine-mediated signaling pathway; cuticle development; hormone biosynthetic process; superoxide anion generation; hydrogen peroxide catabolic process; hydrogen peroxide biosynthetic process; response to cAMP | 15q15.3 |
| DUOX2 | oxidation-reduction process; response to cAMP; adenohypophysis morphogenesis; inner ear development; hydrogen peroxide catabolic process; hormone biosynthetic process; thyroid hormone metabolic process; cuticle development; multicellular organism growth; thyroid gland development; bone mineralization; cytokine-mediated signaling pathway; response to virus; fertilization; response to oxidative stress | 15q15.3 |
| DUOXA1 | protein transport | 15q21.1 |
| DUOXA2 | protein transport | 15q15.1 |
| DUPD1 | protein dephosphorylation | 10q22.2 |
| DUS1L | tRNA processing | 17q25.3 |
| DUS2 | tRNA processing | 16q22.1 |
| DUS3L | tRNA processing | 19p13.3 |
| DUS4L | tRNA processing | 7q22-q31 |
| DUSP1 | regulation of apoptotic process; positive regulation of anti-apoptosis; response to hydrogen peroxide; intracellular signal transduction; response to testosterone stimulus; cellular response to hormone stimulus; response to retinoic acid; response to estradiol stimulus; response to light stimulus; cell cycle; response to oxidative stress; positive regulation of apoptotic process; protein dephosphorylation; endoderm formation; inactivation of MAPK activity; response to glucocorticoid stimulus; response to cAMP; response to calcium ion | 5q34 |
| DUSP10 | negative regulation of stress-activated MAPK cascade; negative regulation of respiratory burst involved in inflammatory response; negative regulation of JNK cascade; regulation of innate immune response; inactivation of MAPK activity; regulation of adaptive immune response; protein dephosphorylation; JNK cascade; negative regulation of JUN kinase activity; response to lipopolysaccharide; response to organic substance; response to stress | 1q41 |
| DUSP11 | RNA processing; peptidyl-tyrosine dephosphorylation | 2p13.1 |
| DUSP12 | peptidyl-tyrosine dephosphorylation; positive regulation of glucokinase activity; JNK cascade; protein dephosphorylation; protein modification process | 1q21-q22 |
| DUSP13 | protein dephosphorylation; meiosis; spermatogenesis | 10q22.2 |
| DUSP14 | peptidyl-tyrosine dephosphorylation | 17q12 |
| DUSP15 | protein dephosphorylation | 20q11.21 |
| DUSP16 | protein dephosphorylation; inactivation of MAPK activity; dephosphorylation; MAPK phosphatase export from nucleus, leptomycin B sensitive; MAPK export from nucleus | 12p13 |
| DUSP18 | peptidyl-tyrosine dephosphorylation | 22q12.2 |
| DUSP19 | negative regulation of JNK cascade; positive regulation of JNK cascade; negative regulation of protein kinase activity; protein dephosphorylation; positive regulation of protein phosphorylation; positive regulation of protein kinase activity; negative regulation of JUN kinase activity; positive regulation of JUN kinase activity; positive regulation of MAPK cascade; JNK cascade; inactivation of MAPK activity | 2q32.1 |
| DUSP2 | inactivation of MAPK activity; endoderm formation; protein dephosphorylation; peptidyl-tyrosine dephosphorylation; regulation of apoptotic process | 2q11 |
| DUSP21 | peptidyl-tyrosine dephosphorylation | Xp11.4-p11.23 |
| DUSP22 | multicellular organismal development; cell proliferation; regulation of cell proliferation; positive regulation of JNK cascade; transforming growth factor beta receptor signaling pathway; apoptotic process; protein dephosphorylation; inactivation of MAPK activity | 6p25.3 |
| DUSP23 | - | 1q23.2 |
| DUSP26 | protein dephosphorylation | 8p12 |
| DUSP27 | protein dephosphorylation | 1q22-q24 |
| DUSP28 | peptidyl-tyrosine dephosphorylation | 2q37.3 |
| DUSP3 | toll-like receptor 4 signaling pathway; positive regulation of mitotic cell cycle; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; Toll signaling pathway; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; in utero embryonic development; inactivation of MAPK activity; TRIF-dependent toll-like receptor signaling pathway; innate immune response; negative regulation of MAPK cascade; negative regulation of JNK cascade; nerve growth factor receptor signaling pathway; negative regulation of T cell receptor signaling pathway; negative regulation of T cell activation; stress-activated MAPK cascade; negative regulation of ERK1 and ERK2 cascade; peptidyl-tyrosine dephosphorylation | 17q21 |
| DUSP4 | nerve growth factor receptor signaling pathway; MAPK cascade; inactivation of MAPK activity; endoderm formation; toll-like receptor signaling pathway; stress-activated MAPK cascade; innate immune response; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; response to organic substance; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; protein dephosphorylation; Toll signaling pathway | 8p12-p11 |
| DUSP5 | endoderm formation; negative regulation of transcription, DNA-dependent; peptidyl-tyrosine dephosphorylation; protein dephosphorylation; inactivation of MAPK activity | 10q25 |
| DUSP5P1 | - | 1q42.13 |
| DUSP6 | nerve growth factor receptor signaling pathway; TRIF-dependent toll-like receptor signaling pathway; regulation of fibroblast growth factor receptor signaling pathway; response to drug; regulation of endodermal cell fate specification; positive regulation of apoptotic process; innate immune response; negative regulation of protein phosphorylation; stress-activated MAPK cascade; response to nitrosative stress; regulation of heart growth; negative regulation of ERK1 and ERK2 cascade; response to growth factor stimulus; toll-like receptor 4 signaling pathway; peptidyl-tyrosine dephosphorylation; inactivation of MAPK activity; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; Toll signaling pathway; dorsal/ventral pattern formation; response to organic cyclic compound; cell differentiation; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway | 12q22-q23 |
| DUSP7 | stress-activated MAPK cascade; nerve growth factor receptor signaling pathway; toll-like receptor signaling pathway; innate immune response; negative regulation of MAP kinase activity; TRIF-dependent toll-like receptor signaling pathway; peptidyl-tyrosine dephosphorylation; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; Toll signaling pathway; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; inactivation of MAPK activity | 3p21 |
| DUSP8 | peptidyl-tyrosine dephosphorylation; inactivation of MAPK activity; protein dephosphorylation | 11p15.5 |
| DUSP8P4 | - | 10q11.22 |
| DUSP9 | protein dephosphorylation; inactivation of MAPK activity; JNK cascade | Xq28 |
| DUT | nucleobase-containing small molecule metabolic process; nucleobase-containing compound metabolic process; pyrimidine base metabolic process; DNA replication; nucleotide metabolic process; small molecule metabolic process; dUTP metabolic process; pyrimidine nucleoside biosynthetic process | 15q21.1 |
| DUTP6 | - | - |
| DUTP7 | - | - |
| DUX4L9 | cell proliferation; regulation of gene expression | 4q35.2 |
| DUXAP10 | - | 14q11.2 |
| DUXAP3 | - | 10q11.21 |
| DUXAP7 | - | 20p11.23 |
| DUXAP8 | - | 22q11.21 |
| DVL1 | receptor clustering; protein localization to microtubule; intracellular signal transduction; positive regulation of transcription, DNA-dependent; collateral sprouting; axon extension; dendrite morphogenesis; synapse organization; convergent extension; canonical Wnt receptor signaling pathway; Wnt receptor signaling pathway, planar cell polarity pathway; prepulse inhibition; skeletal muscle acetylcholine-gated channel clustering; cochlea morphogenesis; planar cell polarity pathway involved in neural tube closure; positive regulation of canonical Wnt receptor signaling pathway; regulation of neurotransmitter levels; protein localization to nucleus; negative regulation of protein phosphorylation; transcription from RNA polymerase II promoter; negative regulation of protein kinase activity; signal transduction; neurotransmitter secretion; multicellular organismal development; axon guidance; heart development; neuromuscular junction development; positive regulation of neuron projection development; neural tube dev | 1p36 |
| DVL2 | heart development; convergent extension involved in neural plate elongation; cellular protein localization; intracellular signal transduction; non-canonical Wnt receptor signaling pathway; positive regulation of JUN kinase activity; canonical Wnt receptor signaling pathway involved in regulation of cell proliferation; positive regulation of transcription, DNA-dependent; positive regulation of sequence-specific DNA binding transcription factor activity; convergent extension; canonical Wnt receptor signaling pathway; Wnt receptor signaling pathway, planar cell polarity pathway; positive regulation of protein tyrosine kinase activity; cochlea morphogenesis; planar cell polarity pathway involved in neural tube closure; positive regulation of canonical Wnt receptor signaling pathway; cell migration in hindbrain; neural tube closure; positive regulation of protein phosphorylation; heart morphogenesis; outflow tract morphogenesis; transcription from RNA polymerase II promoter; multicellular organismal development; s | 17p13.1 |
| DVL3 | intracellular signal transduction; positive regulation of protein phosphorylation; outflow tract septum morphogenesis; multicellular organismal development; Wnt receptor signaling pathway; non-canonical Wnt receptor signaling pathway; response to drug; positive regulation of JUN kinase activity; positive regulation of transcription, DNA-dependent; convergent extension; canonical Wnt receptor signaling pathway; Wnt receptor signaling pathway, planar cell polarity pathway; cochlea morphogenesis; planar cell polarity pathway involved in neural tube closure | 3q27 |
| DXO | - | 6p21.3 |
| DYDC1 | - | 10q23.1 |
| DYDC2 | - | 10q23.1 |
| DYM | - | 18q21.1 |
| DYNAP | - | 18q21.2 |
| DYNC1H1 | microtubule-based movement; mitotic spindle organization; stress granule assembly; cytoplasmic mRNA processing body assembly; G2/M transition of mitotic cell cycle; mitotic cell cycle; transport | 14q32 |
| DYNC1I1 | vesicle transport along microtubule; transport | 7q21.3-q22.1 |
| DYNC1I2 | interspecies interaction between organisms; microtubule-based movement; transport; mitotic cell cycle; G2/M transition of mitotic cell cycle | 2q31.1 |
| DYNC1I2P1 | - | 10q11.23 |
| DYNC1LI1 | transport; positive regulation of mitotic cell cycle spindle assembly checkpoint; cell division; regulation of centrosome cycle; interspecies interaction between organisms; mitosis; cell cycle | 3p22.3 |
| DYNC1LI2 | transport | 16q22.1 |
| DYNC2H1 | cell projection organization; multicellular organismal development; Golgi organization; microtubule-based movement | 11q21-q22.1 |
| DYNC2LI1 | multicellular organismal development; determination of left/right symmetry; cell projection organization; cilium assembly | 2p25.1-p24.1 |
| DYNLL1 | interspecies interaction between organisms; negative regulation of phosphorylation; actin cytoskeleton organization; microtubule-based process; apoptotic process; transport; regulation of transcription, DNA-dependent; mitotic cell cycle; G2/M transition of mitotic cell cycle; anatomical structure morphogenesis; activation of pro-apoptotic gene products; induction of apoptosis by intracellular signals; female gamete generation | 12q24.23 |
| DYNLL1P1 | - | 14q31.1 |
| DYNLL1P2 | - | 14q31.1 |
| DYNLL2 | induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; synaptic target recognition; apoptotic process; microtubule-based process; transport | 17q22 |
| DYNLRB1 | transport; microtubule-based movement; visual behavior | 20q11.21 |
| DYNLRB2 | transport; microtubule-based movement | 16q23.3 |
| DYNLT1 | cell division; regulation of cytoskeleton organization; negative regulation of neurogenesis; neuron projection morphogenesis; interspecies interaction between organisms; establishment of mitotic spindle orientation; regulation of Rac GTPase activity; intracellular transport of viral proteins in host cell; transport; cell cycle; mitosis; nervous system development; regulation of G-protein coupled receptor protein signaling pathway | 6q25.2-q25.3 |
| DYNLT3 | cell cycle; transport; cell division; regulation of mitotic cell cycle; mitosis | Xp21 |
| DYNLT3P1 | - | 20p12.1 |
| DYNLT3P2 | - | - |
| DYRK1A | protein autophosphorylation; protein phosphorylation; peptidyl-tyrosine phosphorylation; mitotic cell cycle; nervous system development | 21q22.13 |
| DYRK1B | positive regulation of transcription, DNA-dependent; myoblast fusion; protein phosphorylation | 19q13.2 |
| DYRK2 | DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; positive regulation of glycogen biosynthetic process; protein phosphorylation; apoptotic process; response to DNA damage stimulus; smoothened signaling pathway | 12q15 |
| DYRK3 | protein phosphorylation; erythrocyte differentiation | 1q32.1 |
| DYRK4 | protein phosphorylation | 12p13.32 |
| DYSF | - | 2p13.3 |
| DYTN | - | 2q33.3 |
| DYX1C1 | nervous system development; regulation of proteasomal protein catabolic process; neuron migration; regulation of intracellular estrogen receptor signaling pathway | 15q21.3 |
| DZANK1 | - | 20p11.23 |
| DZIP1 | multicellular organismal development; germ cell development; spermatogenesis; cell differentiation | 13q32.1 |
| DZIP1L | - | 3q22.3 |
| DZIP3 | protein polyubiquitination | 3q13.13 |
| E2F1 | positive regulation of transcription, DNA-dependent; regulation of G1/S transition of mitotic cell cycle; negative regulation of transcription involved in G1/S phase of mitotic cell cycle; cellular response to hypoxia; cellular response to fatty acid; regulation of cell cycle; mRNA stabilization; positive regulation of fibroblast proliferation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; forebrain development; positive regulation of gene expression; spermatogenesis; cell proliferation; DNA damage checkpoint; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; G2 phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; mitotic cell cycle; regulation of transcription, DNA-dependent; apoptotic process | 20q11.2 |
| E2F2 | G1 phase of mitotic cell cycle; mitotic cell cycle; regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase II promoter; apoptotic process; regulation of cell cycle | 1p36 |
| E2F3 | mitotic cell cycle; G2 phase of mitotic cell cycle; G1 phase of mitotic cell cycle; positive regulation of cell proliferation; transcription initiation from RNA polymerase II promoter; regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 6p22 |
| E2F3-IT1 | - | - |
| E2F4 | G1 phase of mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; mitotic cell cycle; epithelial cell development; regulation of transcription, DNA-dependent; cell volume homeostasis; blood circulation; regulation of cell size; organ morphogenesis; regulation of cell proliferation; cilium assembly | 16q21-q22 |
| E2F4P1 | - | 6p21.2 |
| E2F5 | regulation of transcription, DNA-dependent; mitotic cell cycle; G1 phase of mitotic cell cycle; organ morphogenesis | 8q21.2 |
| E2F6 | regulation of transcription involved in G1/S phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; cell cycle | 2p25.1 |
| E2F7 | cell cycle; negative regulation of cell proliferation | 12q21.2 |
| E2F8 | cell cycle | 11p15.1 |
| E4F1 | cell proliferation; regulation of mitotic cell cycle, embryonic; embryo development; cell division; regulation of cell cycle process; regulation of growth; interspecies interaction between organisms; mitosis; cell cycle; regulation of transcription, DNA-dependent; DNA replication; negative regulation of transcription from RNA polymerase II promoter; mitotic cell cycle arrest | 16p13.3 |
| EAF1 | regulation of transcription, DNA-dependent | 3p25.1 |
| EAF1-AS1 | - | - |
| EAF2 | positive regulation of transcription, DNA-dependent; negative regulation of epithelial cell proliferation involved in prostate gland development; negative regulation of cell growth; induction of apoptosis; apoptotic process | 3q13.33 |
| EAPP | negative regulation of transcription elongation from RNA polymerase II promoter; positive regulation of transcription elongation from RNA polymerase II promoter; positive regulation of cell proliferation | 14q13.1 |
| EARS2 | tRNA aminoacylation for mitochondrial protein translation; tRNA aminoacylation for protein translation; gene expression; glutamyl-tRNA aminoacylation | 16p12.2 |
| EBAG9 | apoptotic process; regulation of cell growth | 8q23 |
| EBF1 | multicellular organismal development; positive regulation of transcription, DNA-dependent | 5q34 |
| EBF2 | multicellular organismal development; regulation of transcription, DNA-dependent | 8p21.2 |
| EBF3 | regulation of transcription, DNA-dependent; multicellular organismal development | 10q26.3 |
| EBF4 | multicellular organismal development; regulation of transcription, DNA-dependent | 20p13 |
| EBI3 | positive regulation of interferon-gamma biosynthetic process; positive regulation of alpha-beta T cell proliferation; humoral immune response; cytokine-mediated signaling pathway; T-helper 1 type immune response | 19p13.3 |
| EBLN2 | - | 3p13 |
| EBLN3 | - | 9p13.2 |
| EBP | cholesterol metabolic process; drug transmembrane transport; cholesterol biosynthetic process; small molecule metabolic process; skeletal system development; hemopoiesis | Xp11.23-p11.22 |
| EBPL | sterol metabolic process | 13q12-q13 |
| ECD | regulation of transcription, DNA-dependent; regulation of glycolysis; transcription from RNA polymerase II promoter | 10q22.3 |
| ECE1 | protein processing; bradykinin catabolic process; peptide hormone processing; calcitonin catabolic process; positive regulation of G-protein coupled receptor protein signaling pathway; regulation of vasoconstriction; endothelin maturation; hormone catabolic process; embryonic digit morphogenesis; ear development; substance P catabolic process; heart development; apoptotic process; proteolysis; regulation of systemic arterial blood pressure by endothelin; positive regulation of receptor recycling; response to hypoxia; pharyngeal system development | 1p36.1 |
| ECE2 | heart development; proteolysis; cell-cell signaling; brain development; cardioblast differentiation; peptide hormone processing | 3q27.1|. |
| ECEL1 | intracellular signal transduction; proteolysis; neuropeptide signaling pathway; metabolic process | 2q37.1 |
| ECEL1P2 | - | 2q37.1 |
| ECEL1P3 | - | 2q37.1 |
| ECH1 | lipid metabolic process; fatty acid metabolic process | 19q13.1 |
| ECHDC1 | - | 6q22.33 |
| ECHDC2 | fatty acid metabolic process; lipid metabolic process | 1p32.3 |
| ECHDC3 | - | 10p14 |
| ECHS1 | fatty acid metabolic process; fatty acid beta-oxidation; cellular lipid metabolic process; small molecule metabolic process | 10q26.2-q26.3 |
| ECI1 | fatty acid beta-oxidation; fatty acid metabolic process; cellular lipid metabolic process; small molecule metabolic process | 16p13.3 |
| ECI2 | fatty acid catabolic process | 6p24.3 |
| ECM1 | ossification; positive regulation of endothelial cell proliferation; signal transduction; negative regulation of peptidase activity; negative regulation of bone mineralization; biomineral tissue development; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of angiogenesis | 1q21 |
| ECM2 | positive regulation of cell-substrate adhesion; cell-matrix adhesion; extracellular matrix organization | 9q22.3 |
| ECRP | - | 14q11.2 |
| ECSCR | cell differentiation; multicellular organismal development; chemotaxis; angiogenesis | 5q31.2 |
| ECSIT | innate immune response; regulation of oxidoreductase activity | 19p13.2 |
| ECT2 | protein homooligomerization; positive regulation of neuron differentiation; regulation of protein kinase activity; nerve growth factor receptor signaling pathway; apoptotic process; cell morphogenesis; regulation of small GTPase mediated signal transduction; signal transduction; cell division; regulation of attachment of spindle microtubules to kinetochore; cellular response to hydrogen peroxide; tight junction assembly; cellular response to calcium ion; cellular response to ionizing radiation; positive regulation of cell cycle cytokinesis; positive regulation of Cdc42 GTPase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; cell cycle; small GTPase mediated signal transduction; nervous system development; induction of apoptosis by extracellular signals; protein transport; cell differentiation; activation of protein kinase activity; positive regulation of Rho GTPase activity; activation of Rho GTPase activity; activation of Rac GTPase activity; cell cycle cytokinesis; regulation of Rho prote | 3q26.1-q26.2 |
| ECT2L | regulation of Rho protein signal transduction | 6q24.1 |
| EDA | positive regulation of canonical Wnt receptor signaling pathway; cell-matrix adhesion; trachea gland development; hair follicle placode formation; salivary gland cavitation; positive regulation of NF-kappaB transcription factor activity; skin development; pigmentation; positive regulation of I-kappaB kinase/NF-kappaB cascade; odontogenesis of dentin-containing tooth; positive regulation of NF-kappaB import into nucleus; cell differentiation; gene expression; ectoderm development; multicellular organismal development; signal transduction; immune response | Xq12-q13.1 |
| EDA2R | epidermis development; embryo development; cell differentiation; tumor necrosis factor-mediated signaling pathway; positive regulation of JNK cascade; positive regulation of NF-kappaB transcription factor activity | Xq12 |
| EDAR | hair follicle development; signal transduction; multicellular organismal development; epidermis development; cell differentiation; positive regulation of NF-kappaB import into nucleus; odontogenesis of dentin-containing tooth; pigmentation; apoptotic process; salivary gland cavitation | 2q13 |
| EDARADD | cell differentiation; multicellular organismal development; signal transduction; hair follicle development; odontogenesis of dentin-containing tooth; trachea gland development | 1q42.3 |
| EDC3 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA metabolic process; RNA metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression | 15q24.1 |
| EDC4 | gene expression; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; RNA metabolic process; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 16q22.1 |
| EDEM1 | protein N-linked glycosylation via asparagine; cellular protein metabolic process; post-translational protein modification; endoplasmic reticulum unfolded protein response; ER-associated protein catabolic process; protein folding; response to unfolded protein; activation of signaling protein activity involved in unfolded protein response | 3p26.1 |
| EDEM2 | response to unfolded protein; protein folding; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine | 20q11.22 |
| EDEM3 | protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process; proteasomal ubiquitin-dependent protein catabolic process; response to unfolded protein; protein folding; glycoprotein catabolic process | 1q25 |
| EDF1 | regulation of transcription, DNA-dependent; multicellular organismal development; regulation of lipid metabolic process; cell differentiation; positive regulation of DNA binding; endothelial cell differentiation; positive regulation of transcription, DNA-dependent | 9q34.3 |
| EDIL3 | multicellular organismal development; positive regulation of cell-substrate adhesion; cell adhesion | 5q14 |
| EDN1 | negative regulation of transcription from RNA polymerase II promoter; prostaglandin biosynthetic process; maternal process involved in parturition; response to nicotine; negative regulation of smooth muscle cell apoptosis; response to testosterone stimulus; response to lipopolysaccharide; negative regulation of cellular protein metabolic process; activation of phospholipase D activity by G-protein coupled receptor protein signaling pathway; negative regulation of cAMP biosynthetic process; neutrophil chemotaxis; positive regulation of cell migration; negative regulation of nitric-oxide synthase biosynthetic process; membrane depolarization; regulation of sensory perception of pain; positive regulation of urine volume; positive regulation of sarcomere organization; positive regulation of prostaglandin-endoperoxide synthase activity; positive regulation of chemokine-mediated signaling pathway; cellular response to interleukin-1; cellular response to tumor necrosis factor; positive regulation of neutrophil chemo | 6p24.1 |
| EDN2 | calcium-mediated signaling; positive regulation of prostaglandin-endoperoxide synthase activity; neutrophil chemotaxis; vein smooth muscle contraction; regulation of vasoconstriction; cytokine-mediated signaling pathway; macrophage chemotaxis; macrophage activation; vasoconstriction; positive regulation of smooth muscle contraction; positive regulation of hormone secretion; negative regulation of hormone secretion; inositol phosphate-mediated signaling; artery smooth muscle contraction; positive regulation of heart rate; positive regulation of cell proliferation; regulation of blood pressure; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; elevation of cytosolic calcium ion concentration; cell surface receptor signaling pathway; regulation of systemic arterial blood pressure by endothelin; positive regulation of the force of heart contraction by chemical signal; hormonal regulation of the force of heart contraction; positive regulation of leukocyte chemotaxis; | 1p34 |
| EDN3 | regulation of developmental pigmentation; peptide hormone secretion; neural crest cell migration; positive regulation of leukocyte chemotaxis; regulation of systemic arterial blood pressure by endothelin; signal transduction; cell surface receptor signaling pathway; cell-cell signaling; multicellular organismal development; blood circulation; positive regulation of cell proliferation; positive regulation of heart rate; artery smooth muscle contraction; vein smooth muscle contraction; regulation of vasoconstriction; neuron differentiation; melanocyte differentiation; regulation of cell migration; neutrophil chemotaxis; vasoconstriction; positive regulation of MAP kinase activity; positive regulation of mitosis; positive regulation of hormone secretion; negative regulation of hormone secretion; regulation of neurotransmitter secretion; inositol phosphate-mediated signaling | 20q13.2-q13.3 |
| EDNRA | positive regulation of protein phosphorylation; histamine secretion; response to hypoxia; in utero embryonic development; response to lipopolysaccharide; patterning of blood vessels; regulation of epithelial cell proliferation; positive regulation of neutrophil chemotaxis; cellular response to mechanical stimulus; positive regulation of ERK1 and ERK2 cascade; head development; maternal process involved in parturition; positive regulation of calcium ion transport; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; positive regulation of release of sequestered calcium ion into cytosol; positive regulation of inflammatory response; smooth muscle contraction; smooth muscle cell proliferation; fibroblast proliferation; response to morphine; penile erection; negative regulation of apoptotic process; positive regulation of odontogenesis; vasoconstriction; specification of segmental identity, mandibular segment; negative regulation of cAMP biosynthetic pr | 4q31.22 |
| EDNRB | enteric smooth muscle cell differentiation; neural crest cell migration; enteric nervous system development; macrophage chemotaxis; developmental pigmentation; vasoconstriction; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cellular protein metabolic process; melanocyte differentiation; vein smooth muscle contraction; negative regulation of neuron maturation; posterior midgut development; peripheral nervous system development; nervous system development; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; negative regulation of adenylate cyclase activity; cell surface receptor signaling pathway; regulation of pH; regulation of blood pressure | 13q22 |
| EDRF1 | regulation of transcription, DNA-dependent | 10q26.13 |
| EEA1 | early endosome to late endosome transport; synaptic vesicle to endosome fusion; vesicle fusion; endocytosis | 12q22 |
| EED | regulation of gene expression by genetic imprinting; chromatin modification; histone methylation; negative regulation of transcription, DNA-dependent | 11q14.2-q22.3 |
| EEF1A1 | regulation of transcription, DNA-dependent; cellular protein metabolic process; gene expression; translational elongation; translation | 6q14.1 |
| EEF1A1P1 | - | 21q21.1 |
| EEF1A1P10 | - | - |
| EEF1A1P11 | - | 1p21.3 |
| EEF1A1P12 | - | 2q12.2 |
| EEF1A1P13 | - | 5p15.1 |
| EEF1A1P14 | - | 1q31.3 |
| EEF1A1P15 | - | Xq21.33 |
| EEF1A1P16 | - | 12p12.3 |
| EEF1A1P17 | - | 12q12 |
| EEF1A1P19 | - | - |
| EEF1A1P2 | - | 14q31.1 |
| EEF1A1P20 | - | - |
| EEF1A1P21 | - | - |
| EEF1A1P22 | - | 15q21.3 |
| EEF1A1P24 | - | 3p22.1 |
| EEF1A1P25 | - | 3q22.3 |
| EEF1A1P26 | - | 7p21.2 |
| EEF1A1P27 | - | 7p21.1 |
| EEF1A1P28 | - | 7q21.13 |
| EEF1A1P29 | - | Xq21.2 |
| EEF1A1P3 | - | 13q21 |
| EEF1A1P32 | - | 1q31.3 |
| EEF1A1P33 | - | 12q23.1 |
| EEF1A1P34 | - | 20p11.23 |
| EEF1A1P36 | - | - |
| EEF1A1P38 | - | 16p12.1 |
| EEF1A1P4 | - | 12p12.3 |
| EEF1A1P41 | - | - |
| EEF1A1P42 | - | 6p12.3 |
| EEF1A1P5 | - | 9q34.13 |
| EEF1A1P6 | - | 7p15.3 |
| EEF1A1P7 | - | 19q13.12 |
| EEF1A1P8 | - | 3q27.1 |
| EEF1A1P9 | - | 4q24 |
| EEF1A2 | translation; anti-apoptosis; response to inorganic substance | 20q13.3 |
| EEF1B2 | translation; cellular protein metabolic process; gene expression; translational elongation | 2q33.3 |
| EEF1B2P1 | - | 15q21.2 |
| EEF1B2P2 | - | 5q13.1 |
| EEF1B2P3 | - | Xp22.11 |
| EEF1B2P4 | - | 12q23.3 |
| EEF1D | translation; translational elongation; signal transduction; gene expression; positive regulation of I-kappaB kinase/NF-kappaB cascade; cellular protein metabolic process | 8q24.3 |
| EEF1DP1 | - | 19p13.12 |
| EEF1DP2 | - | 9q22.31 |
| EEF1DP3 | - | 13q13.1 |
| EEF1DP5 | - | 6q22.33 |
| EEF1E1 | tRNA aminoacylation for protein translation; positive regulation of DNA damage response, signal transduction by p53 class mediator; positive regulation of apoptotic process; gene expression; negative regulation of cell proliferation | 6p24.3 |
| EEF1G | response to virus; cellular protein metabolic process; gene expression; translational elongation; translation | 11q12.3 |
| EEF1GP1 | - | 7q31.33 |
| EEF1GP2 | - | 5q32 |
| EEF1GP3 | - | 3p22.1 |
| EEF1GP5 | - | Xq23 |
| EEF1GP8 | - | 4q28.2 |
| EEF2 | translation; translational elongation; gene expression; cellular protein metabolic process | 19p13.3 |
| EEF2K | translational elongation; protein phosphorylation; insulin receptor signaling pathway; regulation of protein autophosphorylation; protein autophosphorylation | 16p12.2 |
| EEF2KMT | - | 16p13.3 |
| EEFSEC | translational elongation; GTP catabolic process; selenocysteine incorporation | 3q21.3 |
| EEPD1 | DNA repair | 7p14.2 |
| EFCAB1 | - | 8q11.21 |
| EFCAB10 | signal transduction | 7q22.3 |
| EFCAB11 | - | 14q32.11 |
| EFCAB12 | - | 3q21.3 |
| EFCAB13 | - | 17q21.32 |
| EFCAB14 | - | 1p33 |
| EFCAB2 | - | 1q44 |
| EFCAB3 | - | 17q23.2 |
| EFCAB5 | - | 17q11.2 |
| EFCAB6 | regulation of transcription, DNA-dependent | 22q13.2 |
| EFCAB7 | - | 1p31.3 |
| EFCAB9 | - | 5q35.1 |
| EFEMP1 | epidermal growth factor receptor signaling pathway; regulation of transcription, DNA-dependent; visual perception; peptidyl-tyrosine phosphorylation; negative regulation of chondrocyte differentiation | 2p16 |
| EFEMP2 | blood coagulation | 11q13.1 |
| EFHB | - | 3p24.3 |
| EFHC1 | - | 6p12.3 |
| EFHC2 | - | Xp11.3 |
| EFHD1 | neuron projection development | 2q37.1 |
| EFHD2 | - | 1p36.21 |
| EFNA1 | regulation of cell adhesion mediated by integrin; substrate adhesion-dependent cell spreading; regulation of blood vessel endothelial cell migration; regulation of angiogenesis; ephrin receptor signaling pathway; regulation of peptidyl-tyrosine phosphorylation; negative regulation of dendritic spine morphogenesis; positive regulation of peptidyl-tyrosine phosphorylation; regulation of axonogenesis; aortic valve morphogenesis; cell migration; notochord formation; negative regulation of epithelial to mesenchymal transition; cell-cell signaling; endocardial cushion to mesenchymal transition involved in heart valve formation; mitral valve morphogenesis; activation of MAPK activity; negative regulation of transcription from RNA polymerase II promoter; neuron differentiation | 1q21-q22 |
| EFNA2 | osteoclast differentiation; ephrin receptor signaling pathway; bone remodeling; olfactory bulb development; axon guidance; cell-cell signaling | 19p13.3 |
| EFNA3 | cell-cell signaling; ephrin receptor signaling pathway | 1q21-q22 |
| EFNA4 | cell-cell signaling | 1q21-q22 |
| EFNA5 | nervous system development; regulation of insulin secretion involved in cellular response to glucose stimulus; regulation of focal adhesion assembly; regulation of microtubule cytoskeleton organization; positive regulation of peptidyl-tyrosine phosphorylation; ephrin receptor signaling pathway; regulation of actin cytoskeleton organization; regulation of Rho GTPase activity; regulation of Rac GTPase activity; retinal ganglion cell axon guidance; cell differentiation; regulation of cell-cell adhesion; brain development; multicellular organismal development; apoptotic process | 5q21 |
| EFNB1 | positive regulation of T cell proliferation; neural crest cell migration; cell adhesion; cell-cell signaling; multicellular organismal development; nervous system development; axon guidance; embryonic pattern specification; cell differentiation | Xq12 |
| EFNB2 | Notch signaling pathway; cell-cell signaling; multicellular organismal development; nervous system development; anatomical structure morphogenesis; organ morphogenesis; cell differentiation; interspecies interaction between organisms; ephrin receptor signaling pathway; regulation of chemotaxis; angiogenesis; lymph vessel development; cell migration involved in sprouting angiogenesis; cell adhesion | 13q33 |
| EFNB3 | ephrin receptor signaling pathway; interspecies interaction between organisms; axon choice point recognition; cell differentiation; adult walking behavior; nervous system development; multicellular organismal development; cell-cell signaling | 17p13.1 |
| EFR3A | - | 8q24.22 |
| EFR3B | - | 2p23.3 |
| EFS | cell adhesion; intracellular signal transduction | 14q11.2-q12 |
| EFTUD1 | GTP catabolic process; ribosome biogenesis; mature ribosome assembly | 15q25.2 |
| EFTUD1P1 | - | 15q25.2 |
| EFTUD2 | nuclear mRNA splicing, via spliceosome; GTP catabolic process; mRNA processing; RNA splicing; gene expression | 17q21.31 |
| EGF | positive regulation of epidermal growth factor-activated receptor activity; positive regulation of mitosis; positive regulation of transcription, DNA-dependent; branching morphogenesis of a tube; regulation of protein secretion; regulation of peptidyl-tyrosine phosphorylation; negative regulation of secretion; mammary gland alveolus development; ERK1 and ERK2 cascade; regulation of calcium ion import; negative regulation of cholesterol efflux; regulation of protein localization at cell surface; positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; positive regulation of DNA binding; positive regulation of MAP kinase activity; activation of MAPKK activity; angiogenesis; platelet degranulation; DNA replication; signal transduction; activation of transmembrane receptor protein tyrosine kinase activity; epidermal growth factor receptor signaling pathway; STAT protein import into nucleus; positive regulation of cell proliferation; positive regulation of peptidyl-t | 4q25 |
| EGFEM1P | - | 3q26.2 |
| EGFL6 | cell cycle; multicellular organismal development; cell adhesion; cell differentiation | Xp22 |
| EGFL7 | angiogenesis; blood vessel development; vasculogenesis; multicellular organismal development; negative regulation of cell migration | 9q34.3 |
| EGFL8 | in utero embryonic development | 6p21.32 |
| EGFLAM | peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; positive regulation of cell-substrate adhesion; extracellular matrix organization | 5p13.2-p13.1 |
| EGFLAM-AS4 | - | 5p13.2 |
| EGFR | positive regulation of fibroblast proliferation; protein autophosphorylation; positive regulation of DNA replication; positive regulation of DNA repair; positive regulation of nitric oxide biosynthetic process; positive regulation of MAP kinase activity; negative regulation of apoptotic process; activation of phospholipase A2 activity by calcium-mediated signaling; positive regulation of phosphorylation; digestive tract morphogenesis; positive regulation of epithelial cell proliferation; regulation of peptidyl-tyrosine phosphorylation; regulation of nitric-oxide synthase activity; protein insertion into membrane; positive regulation of protein kinase B signaling cascade; morphogenesis of an epithelial fold; response to UV-A; ossification; negative regulation of epidermal growth factor receptor signaling pathway; cell morphogenesis; embryonic placenta development; hair follicle development; response to stress; signal transduction; cell surface receptor signaling pathway; transmembrane receptor protein tyrosine | 7p12 |
| EGLN1 | cardiac muscle tissue morphogenesis; oxygen homeostasis; response to hypoxia; negative regulation of sequence-specific DNA binding transcription factor activity; regulation of angiogenesis; ventricular septum morphogenesis; heart trabecula formation; response to nitric oxide; labyrinthine layer development | 1q42.1 |
| EGLN2 | response to hypoxia; regulation of cell growth; intracellular estrogen receptor signaling pathway; regulation of neuron apoptosis; cell redox homeostasis; positive regulation of protein catabolic process | 19q13.2 |
| EGLN3 | protein hydroxylation; regulation of cell proliferation; regulation of neuron apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; response to hypoxia | 14q13.1 |
| EGOT | - | 3p26.1 |
| EGR1 | regulation of long-term neuronal synaptic plasticity; type I interferon-mediated signaling pathway; transcription from RNA polymerase II promoter; interleukin-1-mediated signaling pathway; cellular response to gamma radiation; cellular response to heparin; cellular response to mycophenolic acid; glomerular mesangial cell proliferation; positive regulation of glomerular metanephric mesangial cell proliferation; negative regulation of canonical Wnt receptor signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; learning or memory; response to glucose stimulus; cytokine-mediated signaling pathway; T cell differentiation; BMP signaling pathway; response to insulin stimulus; regulation of protein sumoylation | 5q31.1 |
| EGR2 | Schwann cell differentiation; regulation of neuronal synaptic plasticity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; fat cell differentiation; myelination; brain segmentation; response to insulin stimulus; regulation of ossification; rhombomere 5 formation; rhombomere 3 formation; facial nerve structural organization; rhombomere 3 development; motor axon guidance; rhythmic behavior; learning or memory; peripheral nervous system development; brain development; protein export from nucleus; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 10q21.1 |
| EGR3 | circadian rhythm; cellular response to fibroblast growth factor stimulus; negative regulation of apoptotic process; cellular response to vascular endothelial growth factor stimulus; endothelial cell chemotaxis; muscle organ development; neuromuscular synaptic transmission; regulation of transcription, DNA-dependent; cell migration involved in sprouting angiogenesis; positive regulation of endothelial cell proliferation; peripheral nervous system development | 8p23-p21 |
| EGR4 | regulation of transcription, DNA-dependent; positive regulation of cell proliferation | 2p13 |
| EHBP1 | - | 2p15 |
| EHBP1L1 | - | 11q13.1 |
| EHD1 | low-density lipoprotein particle clearance; endocytic recycling; positive regulation of cholesterol storage; blood coagulation; endocytosis; intracellular protein transport; cholesterol homeostasis; protein homooligomerization | 11q13 |
| EHD2 | cortical actin cytoskeleton organization; endocytic recycling; blood coagulation; endocytosis | 19q13.3 |
| EHD3 | protein homooligomerization; endocytic recycling; blood coagulation | 2p21 |
| EHD4 | pinocytosis; regulation of endocytosis; endocytic recycling; positive regulation of peptidyl-tyrosine phosphorylation; protein homooligomerization; cellular response to growth factor stimulus | 15q11.1 |
| EHF | positive regulation of transcription, DNA-dependent; epithelial cell differentiation; multicellular organismal development; cell proliferation | 11p12 |
| EHHADH | internal protein amino acid acetylation; lipid metabolic process; fatty acid metabolic process; fatty acid beta-oxidation | 3q26.3-q28 |
| EHMT1 | histone H3-K9 methylation; embryo development; DNA methylation; negative regulation of transcription from RNA polymerase II promoter; chromatin modification; histone H3-K27 methylation; negative regulation of transcription, DNA-dependent; histone lysine methylation; peptidyl-lysine dimethylation; peptidyl-lysine monomethylation; histone methylation | 9q34.3 |
| EHMT1-IT1 | - | 9q34.3 |
| EHMT2 | synaptonemal complex assembly; spermatid development; histone H3-K9 methylation; histone H3-K27 methylation; DNA methylation; organ growth; peptidyl-lysine dimethylation; chromatin modification; pachytene; negative regulation of transcription from RNA polymerase II promoter; fertilization | 6p21.31 |
| EI24 | induction of apoptosis; autophagy; apoptotic process; negative regulation of cell growth; response to drug | 11q24 |
| EI24P1 | - | 3q26.32 |
| EI24P2 | - | 1q23.1 |
| EID1 | negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; cell cycle; cell differentiation; regulation of histone acetylation | 15q21.1 |
| EID2 | regulation of cell proliferation; regulation of transforming growth factor beta receptor signaling pathway; negative regulation of transforming growth factor beta receptor signaling pathway; transforming growth factor beta receptor complex assembly; cell differentiation; SMAD protein complex assembly; multicellular organismal development; muscle organ development; negative regulation of transcription, DNA-dependent | 19q13.2 |
| EID2B | cell differentiation; regulation of transcription, DNA-dependent; multicellular organismal development; muscle organ development | 19q13.2 |
| EID3 | regulation of transcription, DNA-dependent | 12q23.3 |
| EIF1 | regulation of translational initiation; translational initiation; translation; response to stress | 17q21.2 |
| EIF1AD | - | 11q13.1 |
| EIF1AX | translational initiation; cellular protein metabolic process; gene expression; translation | Xp22.12 |
| EIF1AY | - | Yq11.223 |
| EIF1B | regulation of translational initiation | 3p22.1 |
| EIF2A | positive regulation of signal transduction; SREBP-mediated signaling pathway; ribosome assembly; translational initiation; regulation of translation; protein phosphorylation | 3q25.1 |
| EIF2AK1 | negative regulation of cell proliferation; response to external stimulus; negative regulation of hemoglobin biosynthetic process; negative regulation of translation; protein autophosphorylation; protoporphyrinogen IX metabolic process; negative regulation of translational initiation by iron; response to stress; regulation of eIF2 alpha phosphorylation by heme | 7p22 |
| EIF2AK2 | response to virus; interspecies interaction between organisms; protein autophosphorylation; negative regulation of osteoblast proliferation; endoplasmic reticulum unfolded protein response; evasion by virus of host immune response; viral infectious cycle; modulation by virus of host cellular process; virus-host interaction; negative regulation of cell proliferation; virus-infected cell apoptosis; protein phosphorylation; translation | 2p22-p21 |
| EIF2AK3 | fat cell differentiation; protein autophosphorylation; bone mineralization; insulin-like growth factor receptor signaling pathway; protein homooligomerization; response to endoplasmic reticulum stress; SREBP-mediated signaling pathway; positive regulation of protein binding; negative regulation of translational initiation in response to stress; negative regulation of myelination; insulin secretion; endoplasmic reticulum unfolded protein response; endocrine pancreas development; positive regulation of signal transduction; activation of cysteine-type endopeptidase activity involved in apoptotic process; protein phosphorylation; calcium-mediated signaling; chondrocyte development; ossification; virus-infected cell apoptosis; response to stress; ER overload response; response to unfolded protein; skeletal system development; regulation of fatty acid metabolic process; endoplasmic reticulum organization; activation of signaling protein activity involved in unfolded protein response; lactation; negative regulation | 2p12 |
| EIF2AK4 | regulation of translational initiation; negative regulation of translation; cellular response to starvation; endoplasmic reticulum unfolded protein response; protein phosphorylation; regulation of translational initiation in response to stress | 15q15.1 |
| EIF2AP4 | - | - |
| EIF2B1 | cellular response to stimulus; cellular protein metabolic process; cellular metabolic process; response to peptide hormone stimulus; oligodendrocyte development; gene expression; response to glucose stimulus; response to heat; translation; translational initiation; regulation of translational initiation | 12q24.31 |
| EIF2B2 | myelination; cellular protein metabolic process; cellular response to stimulus; ovarian follicle development; translation; translational initiation; regulation of translational initiation; central nervous system development; response to heat; oligodendrocyte development; response to peptide hormone stimulus; cellular metabolic process; response to glucose stimulus; gene expression | 14q24.3 |
| EIF2B3 | translation; cellular response to stimulus; cellular protein metabolic process; response to peptide hormone stimulus; negative regulation of translational initiation in response to stress; oligodendrocyte development; gene expression; response to glucose stimulus; response to heat; biosynthetic process; translational initiation | 1p34.1 |
| EIF2B4 | negative regulation of translational initiation; ovarian follicle development; translation; translational initiation; regulation of translation; response to heat; response to glucose stimulus; gene expression; oligodendrocyte development; negative regulation of translational initiation in response to stress; myelination; response to peptide hormone stimulus; cellular metabolic process; cellular protein metabolic process; cellular response to stimulus | 2p23.3 |
| EIF2B5 | cellular response to stimulus; astrocyte differentiation; translation; positive regulation of translational initiation; cellular protein metabolic process; response to peptide hormone stimulus; myelination; negative regulation of translational initiation in response to stress; RNA metabolic process; oligodendrocyte development; astrocyte development; gene expression; response to glucose stimulus; response to heat; response to stress; regulation of translation; translational initiation; ovarian follicle development | 3q27.1 |
| EIF2B5-IT1 | - | - |
| EIF2D | translational initiation; intracellular protein transport | 1q32.1 |
| EIF2S1 | gene expression; protein autophosphorylation; cellular protein metabolic process; regulation of translational initiation in response to stress; endoplasmic reticulum unfolded protein response; activation of signaling protein activity involved in unfolded protein response; regulation of translation; translational initiation; translation | 14q23.3 |
| EIF2S2 | in utero embryonic development; translation; male germ cell proliferation; translational initiation; male gonad development; cellular protein metabolic process; gene expression | 20q11.2 |
| EIF2S2P2 | - | 3q27.2 |
| EIF2S2P3 | - | 10q23.33 |
| EIF2S2P5 | - | 1p13.1 |
| EIF2S2P6 | - | 11q14.1 |
| EIF2S3 | GTP catabolic process; translation; translational initiation; gene expression; cellular protein metabolic process | Xp22.2-p22.1 |
| EIF3A | cellular protein metabolic process; translational initiation; translation; formation of translation initiation complex; gene expression | 10q26 |
| EIF3B | translation; translational initiation; regulation of translational initiation; gene expression; cellular protein metabolic process | 7p22.3 |
| EIF3C | cellular protein metabolic process; gene expression; translational initiation; translation | 16p11.2 |
| EIF3D | cellular protein metabolic process; gene expression; translational initiation; translation; formation of translation initiation complex | 22q13.1 |
| EIF3E | negative regulation of translational initiation; cellular protein metabolic process; gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; regulation of translational initiation; translational initiation; translation | 8q22-q23 |
| EIF3EP1 | - | 6q13 |
| EIF3EP2 | - | 2q24.2 |
| EIF3F | translational initiation; gene expression; translation; cellular protein metabolic process | 11p15.4 |
| EIF3FP3 | - | 2p16.1 |
| EIF3G | cellular protein metabolic process; translation; translational initiation; gene expression | 19p13.2 |
| EIF3H | translation; translational initiation; regulation of translational initiation; gene expression; cellular protein metabolic process | 8q24.11 |
| EIF3I | translational initiation; translation; gene expression; cellular protein metabolic process | 1p34.1 |
| EIF3IP1 | - | 7q31.1 |
| EIF3J | cellular protein metabolic process; translation; translational initiation; gene expression | 15q21.1 |
| EIF3J-AS1 | - | 15q21.1 |
| EIF3K | cellular protein metabolic process; translation; translational initiation; regulation of translational initiation; gene expression | 19q13.2 |
| EIF3KP1 | - | 5q21.1 |
| EIF3KP3 | - | 4q26 |
| EIF3L | translational initiation | 22q |
| EIF3LP1 | - | 14q31.1 |
| EIF3LP2 | - | 10q11.21 |
| EIF3LP3 | - | 10p11.1 |
| EIF3M | translational initiation | 11p13 |
| EIF4A1 | cellular protein metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA poly(A) tail shortening; translation; translational initiation; gene expression; RNA metabolic process; mRNA metabolic process; cytokine-mediated signaling pathway; organ regeneration | 17p13 |
| EIF4A1P10 | - | - |
| EIF4A1P12 | - | - |
| EIF4A1P2 | - | Yp11.2 |
| EIF4A1P3 | - | - |
| EIF4A1P5 | - | 13q13.3 |
| EIF4A1P6 | - | 13q21.2 |
| EIF4A1P7 | - | 13q12.3 |
| EIF4A1P8 | - | 10q23.32 |
| EIF4A1P9 | - | 17p13.3 |
| EIF4A2P2 | - | - |
| EIF4A2P4 | - | Xp11.22 |
| EIF4A3 | rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA poly(A) tail shortening; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; RNA metabolic process; mRNA metabolic process; negative regulation of translation; cytokine-mediated signaling pathway; positive regulation of translation; mRNA transport; transport | 17q25.3 |
| EIF4B | nuclear-transcribed mRNA poly(A) tail shortening; translation; translational initiation; regulation of translational initiation; insulin receptor signaling pathway; gene expression; RNA metabolic process; mRNA metabolic process; cellular protein metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 12q13.13 |
| EIF4BP2 | - | 10p12.31 |
| EIF4BP3 | - | 9q22.32 |
| EIF4BP4 | - | 3p22.1 |
| EIF4BP5 | - | - |
| EIF4BP6 | - | 7q22.2 |
| EIF4BP8 | - | 3q21.1 |
| EIF4BP9 | - | Xq12 |
| EIF4E | RNA metabolic process; gene expression; insulin receptor signaling pathway; regulation of translation; translational initiation; translation; mRNA export from nucleus; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; G1/S transition of mitotic cell cycle; mRNA metabolic process; cytokine-mediated signaling pathway; cellular protein metabolic process; interspecies interaction between organisms; positive regulation of mitotic cell cycle | 4q21-q25 |
| EIF4E1B | regulation of translation | 5q35.2 |
| EIF4E2 | regulation of translation; cytokine-mediated signaling pathway; translation | 2q37.1 |
| EIF4E2P1 | - | 20p11.23 |
| EIF4E3 | regulation of translation; cytokine-mediated signaling pathway | 3p14 |
| EIF4EBP1 | gene expression; G1/S transition of mitotic cell cycle; translation; translational initiation; insulin receptor signaling pathway; negative regulation of protein complex assembly; TOR signaling cascade; cellular protein metabolic process; positive regulation of mitotic cell cycle; negative regulation of translational initiation | 8p12 |
| EIF4EBP2 | translation; insulin receptor signaling pathway; cAMP-mediated signaling; negative regulation of translational initiation | 10q21-q22 |
| EIF4ENIF1 | protein transport | 22q11.2 |
| EIF4EP1 | - | 20p13 |
| EIF4EP2 | - | 17q21.33 |
| EIF4G1 | cell death; cellular protein metabolic process; interspecies interaction between organisms; mRNA metabolic process; RNA metabolic process; gene expression; insulin receptor signaling pathway; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; regulation of translational initiation; translational initiation; translation; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; cytokine-mediated signaling pathway | 3q27-qter |
| EIF4G2 | cell death; cytokine-mediated signaling pathway; RNA metabolic process; regulation of translational initiation; translational initiation; translation; cell cycle arrest | 11p15 |
| EIF4G3 | interspecies interaction between organisms; cytokine-mediated signaling pathway; translation; regulation of translational initiation; RNA metabolic process | 1p36.12 |
| EIF4H | translation; interspecies interaction between organisms; cellular protein metabolic process; gene expression; regulation of translational initiation; translational initiation | 7q11.23 |
| EIF5 | gene expression; cellular protein metabolic process; RNA metabolic process; regulation of translational initiation; translational initiation; translation; GTP catabolic process | 14q32.32 |
| EIF5A | positive regulation of translational termination; positive regulation of translational elongation; cellular protein metabolic process; post-translational protein modification; protein transport; peptidyl-lysine modification to hypusine; induction of apoptosis; positive regulation of cell proliferation; mRNA export from nucleus; translational elongation; protein export from nucleus; nucleocytoplasmic transport; translational frameshifting | 17p13-p12 |
| EIF5A2 | positive regulation of translational elongation; polyamine homeostasis; protein transport; post-translational protein modification; mRNA transport; cellular protein metabolic process; positive regulation of translational termination; positive regulation of cell proliferation; peptidyl-lysine modification to hypusine; translational frameshifting; spermatogenesis | 3q26.2 |
| EIF5AL1 | translational frameshifting; mRNA transport; positive regulation of translational termination; positive regulation of translational elongation; protein transport; peptidyl-lysine modification to hypusine | 10q22.3 |
| EIF5AP2 | - | 17q25.3 |
| EIF5AP3 | - | 19q13.2 |
| EIF5B | translation; translational initiation; regulation of translational initiation; gene expression; cellular protein metabolic process | 2q11.2 |
| EIF6 | ribosome biogenesis; mature ribosome assembly | 20q12 |
| ELAC1 | tRNA 3'-trailer cleavage; tRNA processing | 18q21 |
| ELAC2 | tRNA processing | 17p11.2 |
| ELANE | negative regulation of chemokine biosynthetic process; neutrophil mediated killing of fungus; negative regulation of chemotaxis; leukocyte migration; positive regulation of immune response; negative regulation of inflammatory response; positive regulation of smooth muscle cell proliferation; positive regulation of interleukin-8 biosynthetic process; negative regulation of interleukin-8 biosynthetic process; negative regulation of growth of symbiont in host; positive regulation of MAP kinase activity; response to lipopolysaccharide; protein catabolic process; response to UV; phagocytosis; cellular calcium ion homeostasis; proteolysis; acute inflammatory response to antigenic stimulus; response to yeast | 19p13.3 |
| ELAVL1 | gene expression; 3'-UTR-mediated mRNA stabilization; mRNA stabilization; positive regulation of translation; RNA metabolic process; multicellular organismal development; mRNA metabolic process | 19p13.2 |
| ELAVL2 | regulation of transcription, DNA-dependent | 9p21 |
| ELAVL3 | multicellular organismal development; nervous system development; cell differentiation | 19p13.2 |
| ELAVL4 | RNA processing; mRNA processing | 1p34 |
| ELDR | - | 7p11.2 |
| ELF1 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of T cell receptor signaling pathway; positive regulation of transcription, DNA-dependent; regulation of cytokine production | 13q13 |
| ELF2 | regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 4q28 |
| ELF2P1 | - | Xq22.2 |
| ELF3 | mammary gland involution; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; epithelial cell differentiation; extracellular matrix organization; anatomical structure morphogenesis; epidermis development; multicellular organismal development; inflammatory response; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; blastocyst development; embryo development | 1q32.2 |
| ELF4 | positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; NK T cell proliferation; natural killer cell proliferation | Xq26 |
| ELF5 | transcription from RNA polymerase II promoter; ectoderm development; cell proliferation; mammary gland epithelial cell differentiation | 11p13-p12 |
| ELFN1 | negative regulation of phosphatase activity | 7p22.3 |
| ELFN1-AS1 | - | 7p22.3 |
| ELFN2 | negative regulation of phosphatase activity | 22q13.1 |
| ELK1 | innate immune response; stress-activated MAPK cascade; nerve growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; Toll signaling pathway; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; toll-like receptor 3 signaling pathway | Xp11.2 |
| ELK1P1 | - | 7p12.3 |
| ELK3 | angiogenesis; regulation of transcription, DNA-dependent; signal transduction; wound healing; negative regulation of transcription, DNA-dependent | 12q23 |
| ELK4 | regulation of transcription, DNA-dependent | 1q32 |
| ELL | regulation of transcription, DNA-dependent; in utero embryonic development; transcription from RNA polymerase II promoter; positive regulation of viral transcription; positive regulation of transcription elongation, DNA-dependent; viral reproduction; negative regulation of phosphatase activity; gene expression; transcription elongation from RNA polymerase II promoter | 19p13.1 |
| ELL2 | transcription elongation from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 5q15 |
| ELL2P1 | - | 1q23.1 |
| ELL3 | transcription elongation, DNA-dependent; spermatogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription elongation, DNA-dependent; regulation of transcription, DNA-dependent; transcription elongation from RNA polymerase II promoter | 15q15.3 |
| ELMO1 | cellular component movement; viral reproduction; apoptotic process; phagocytosis, engulfment; actin cytoskeleton organization; Rac protein signal transduction; regulation of defense response to virus by virus | 7p14.1 |
| ELMO2 | phagocytosis; cell chemotaxis; metabolic process; apoptotic process | 20q13 |
| ELMO3 | phagocytosis; apoptotic process | 16q22.1 |
| ELMOD1 | phagocytosis; positive regulation of GTPase activity | 11q22.3 |
| ELMOD2 | phagocytosis; positive regulation of GTPase activity; response to virus; regulation of defense response to virus | 4q31.1 |
| ELMOD3 | phagocytosis | 2p11.2 |
| ELMSAN1 | - | 14q24.3 |
| ELN | blood circulation; organ morphogenesis; cell proliferation; respiratory gaseous exchange | 7q11.23 |
| ELOF1 | regulation of transcription, DNA-dependent | 19p13.2 |
| ELOVL1 | fatty acid elongation, monounsaturated fatty acid; fatty acid biosynthetic process; fatty acid elongation, saturated fatty acid; triglyceride biosynthetic process; sphingolipid biosynthetic process; long-chain fatty-acyl-CoA biosynthetic process; very long-chain fatty acid biosynthetic process; cellular lipid metabolic process; small molecule metabolic process | 1p34.2 |
| ELOVL2 | fatty acid biosynthetic process; long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process; fatty acid elongation, polyunsaturated fatty acid; small molecule metabolic process; cellular lipid metabolic process; very long-chain fatty acid biosynthetic process | 6p24.2 |
| ELOVL2-AS1 | - | - |
| ELOVL3 | fatty acid elongation, saturated fatty acid; small molecule metabolic process; cellular lipid metabolic process; very long-chain fatty acid biosynthetic process; long-chain fatty-acyl-CoA biosynthetic process; fatty acid elongation, polyunsaturated fatty acid; fatty acid elongation, monounsaturated fatty acid; triglyceride biosynthetic process; fatty acid biosynthetic process | 10q24.32 |
| ELOVL4 | triglyceride biosynthetic process; fatty acid elongation, saturated fatty acid; long-chain fatty-acyl-CoA biosynthetic process; detection of visible light; fatty acid biosynthetic process; very long-chain fatty acid biosynthetic process; cellular lipid metabolic process; small molecule metabolic process | 6q14 |
| ELOVL5 | cellular lipid metabolic process; small molecule metabolic process; very long-chain fatty acid biosynthetic process; long-chain fatty-acyl-CoA biosynthetic process; fatty acid elongation, polyunsaturated fatty acid; fatty acid elongation, monounsaturated fatty acid; fatty acid biosynthetic process; triglyceride biosynthetic process | 6p21.1-p12.1 |
| ELOVL6 | fatty acid elongation, saturated fatty acid; small molecule metabolic process; long-chain fatty acid biosynthetic process; long-chain fatty-acyl-CoA biosynthetic process; fatty acid elongation, monounsaturated fatty acid; triglyceride biosynthetic process; cellular lipid metabolic process | 4q25 |
| ELOVL7 | triglyceride biosynthetic process; small molecule metabolic process; cellular lipid metabolic process; very long-chain fatty acid biosynthetic process; long-chain fatty-acyl-CoA biosynthetic process; fatty acid elongation, polyunsaturated fatty acid; fatty acid elongation, saturated fatty acid; fatty acid biosynthetic process | 5q12.1 |
| ELP2 | transcription elongation from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 18q12.2 |
| ELP3 | transcription elongation from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 8p21.1 |
| ELP4 | histone acetylation; transcription elongation from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 11p13 |
| ELP5 | - | 17p13.1 |
| ELP6 | - | 3p21.31 |
| ELSPBP1 | single fertilization | 19q13.33 |
| EMB | cell adhesion | 5q11.1 |
| EMBP1 | - | 1p11.2 |
| EMC1 | - | 1p36.13 |
| EMC10 | - | 19q13.33 |
| EMC2 | - | 8q23.1 |
| EMC3 | - | 3p25.3 |
| EMC4 | - | 15q14 |
| EMC6 | - | 17p13.2 |
| EMC7 | - | 15q14 |
| EMC8 | - | 16q24 |
| EMC9 | - | 14q11.2 |
| EMCN | - | 4q24 |
| EMD | muscle contraction; muscle organ development; nuclear envelope reassembly; negative regulation of catenin import into nucleus; positive regulation of protein export from nucleus; negative regulation of fibroblast proliferation; regulation of canonical Wnt receptor signaling pathway; cellular response to growth factor stimulus | Xq28 |
| EME1 | DNA recombination; DNA repair | 17q21.33 |
| EME2 | DNA repair; DNA recombination | 16p13.3 |
| EMG1 | ribosomal small subunit biogenesis; rRNA processing | 12p13.3 |
| EMID1 | - | 22q12.2 |
| EMILIN1 | extracellular matrix organization; positive regulation of cell-substrate adhesion; cell adhesion | 2p23.3-p23.2 |
| EMILIN2 | cell adhesion | 18p11.3 |
| EMILIN3 | - | 20q12 |
| EML1 | - | 14q32 |
| EML2 | visual perception; sensory perception of sound | 19q13.32 |
| EML2-AS1 | - | 19q13.32 |
| EML3 | - | 11q12.3 |
| EML4 | mitosis; microtubule-based process | 2p21 |
| EML5 | - | 14q31.3 |
| EML6 | - | 2p16.1 |
| EMP1 | multicellular organismal development; cell proliferation; epidermis development; cell growth | 12p12.3 |
| EMP2 | cell proliferation | 16p13.2 |
| EMP3 | negative regulation of cell proliferation; cell growth | 19q13.3 |
| EMSY | DNA repair; chromatin modification; regulation of transcription, DNA-dependent | 11q13.5 |
| EMX1 | multicellular organismal development; brain development; post-embryonic development; cerebral cortex regionalization; neuron differentiation; response to drug | 2p13.2 |
| EMX2 | multicellular organismal development | 10q26.1 |
| EMX2OS | - | 10q26.1 |
| EN1 | pigmentation; positive regulation of transcription from RNA polymerase II promoter; neuron development; skeletal system development; multicellular organismal development; anatomical structure morphogenesis; dorsal/ventral pattern formation; proximal/distal pattern formation; midbrain development; hindbrain development; midbrain-hindbrain boundary development; embryonic forelimb morphogenesis | 2q14.2 |
| EN2 | neuron development; positive regulation of transcription from RNA polymerase II promoter; hindbrain development; midbrain development; multicellular organismal development | 7q36 |
| ENAH | T cell receptor signaling pathway; intracellular transport; actin polymerization or depolymerization; axon guidance; cellular component movement; neural tube closure | 1q42.12 |
| ENAM | bone mineralization; odontogenesis | 4q13.3 |
| ENC1 | multicellular organismal development; nervous system development | 5q13 |
| ENDOD1 | - | 11q21 |
| ENDOG | positive regulation of apoptotic process; response to antibiotic; response to tumor necrosis factor; DNA fragmentation involved in apoptotic nuclear change; in utero embryonic development | 9q34.1 |
| ENDOU | female pregnancy; immune response; proteolysis | 12q13.1 |
| ENDOV | DNA repair | 17q25.3 |
| ENG | positive regulation of systemic arterial blood pressure; positive regulation of transcription from RNA polymerase II promoter; heart looping; negative regulation of endothelial cell proliferation; positive regulation of protein phosphorylation; response to hypoxia; vasculogenesis; patterning of blood vessels; chronological cell aging; negative regulation of transcription from RNA polymerase II promoter; artery morphogenesis; venous blood vessel morphogenesis; cell motility; negative regulation of nitric-oxide synthase activity; cell chemotaxis; negative regulation of pathway-restricted SMAD protein phosphorylation; detection of hypoxia; regulation of transcription, DNA-dependent; smooth muscle tissue development; regulation of phosphorylation; regulation of cell proliferation; wound healing; negative regulation of protein autophosphorylation; positive regulation of BMP signaling pathway; negative regulation of transforming growth factor beta receptor signaling pathway; BMP signaling pathway; regulation of cel | 9q34.11 |
| ENGASE | metabolic process | 17q25.3 |
| ENHO | - | 9p13.3 |
| ENKD1 | - | 16q22.1 |
| ENKUR | - | 10p12.1 |
| ENO1 | carbohydrate metabolic process; negative regulation of transcription, DNA-dependent; small molecule metabolic process; negative regulation of cell growth; response to virus; glycolysis; gluconeogenesis; glucose metabolic process; negative regulation of transcription from RNA polymerase II promoter | 1p36.2 |
| ENO1P2 | - | - |
| ENO1P3 | - | - |
| ENO2 | gluconeogenesis; glycolysis; small molecule metabolic process; carbohydrate metabolic process; glucose metabolic process | 12p13 |
| ENO3 | carbohydrate metabolic process; glucose metabolic process; gluconeogenesis; glycolysis; aging; response to drug; skeletal muscle tissue regeneration; small molecule metabolic process | 17pter-p11 |
| ENO4 | glycolysis | 10q25.3 |
| ENOPH1 | L-methionine salvage from methylthioadenosine; methionine biosynthetic process; cellular nitrogen compound metabolic process; sulfur amino acid metabolic process; small molecule metabolic process; polyamine metabolic process; cellular amino acid biosynthetic process | 4q21.22 |
| ENOSF1 | cellular amino acid catabolic process | 18p11.32 |
| ENOX1 | rhythmic process; electron transport chain; transport | 13q14.11 |
| ENOX1-AS1 | - | - |
| ENOX2 | regulation of growth; transport; ultradian rhythm; cell growth; oxidation-reduction process; electron transport chain | Xq25 |
| ENPEP | angiogenesis; angiotensin catabolic process in blood; regulation of systemic arterial blood pressure by renin-angiotensin; proteolysis; cell-cell signaling; metabolic process; cell proliferation; cell migration; glomerulus development | 4q25 |
| ENPP1 | riboflavin metabolic process; generation of precursor metabolites and energy; vitamin metabolic process; water-soluble vitamin metabolic process; cellular response to insulin stimulus; small molecule metabolic process; negative regulation of fat cell differentiation; negative regulation of glycogen biosynthetic process; negative regulation of glucose import; negative regulation of insulin receptor signaling pathway; bone remodeling; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; immune response; negative regulation of protein autophosphorylation; biomineral tissue development; sequestering of triglyceride; cellular phosphate ion homeostasis; inorganic diphosphate transport; regulation of bone mineralization; negative regulation of cell growth; negative regulation of ossification; nucleoside triphosphate catabolic process; phosphate-containing compound metabolic process | 6q22-q23 |
| ENPP2 | immune response; phosphatidylcholine catabolic process; regulation of cell migration; lipid catabolic process; G-protein coupled receptor signaling pathway; chemotaxis; cellular component movement; phosphate-containing compound metabolic process | 8q24.1 |
| ENPP3 | phosphate-containing compound metabolic process; inorganic diphosphate transport; nucleoside triphosphate catabolic process; immune response | 6q22 |
| ENPP4 | - | 6p21.1 |
| ENPP5 | cell communication | 6p21.1-p11.2 |
| ENPP6 | choline metabolic process; lipid catabolic process | 4q35.1 |
| ENPP7 | negative regulation of cell proliferation; negative regulation of DNA replication; glycosphingolipid metabolic process; sphingomyelin metabolic process; sphingolipid metabolic process; small molecule metabolic process | 17q25.3 |
| ENPP7P13 | - | 16p11.2 |
| ENPP7P2 | - | - |
| ENPP7P4 | - | - |
| ENPP7P8 | - | - |
| ENSA | mitosis; cell division; response to nutrient; cell cycle; transport; G2/M transition of mitotic cell cycle | 1q21.3 |
| ENSAP2 | - | 14q31.1 |
| ENTHD1 | - | 22q13.1 |
| ENTHD2 | - | 17q25.3 |
| ENTPD1 | blood coagulation; platelet activation; purine ribonucleoside diphosphate catabolic process; G-protein coupled receptor signaling pathway; cell adhesion; ATP catabolic process | 10q24 |
| ENTPD1-AS1 | - | 10q24.1 |
| ENTPD2 | G-protein coupled receptor signaling pathway; purine ribonucleoside diphosphate catabolic process; platelet activation | 9q34 |
| ENTPD3 | nucleoside diphosphate catabolic process; nucleoside triphosphate catabolic process | 3p21.3 |
| ENTPD3-AS1 | - | 3p21.33 |
| ENTPD4 | UDP catabolic process | 8p21.3 |
| ENTPD5 | cell growth; protein N-linked glycosylation; ATP metabolic process; 'de novo' posttranslational protein folding; regulation of phosphatidylinositol 3-kinase cascade; cell proliferation; metabolic process; glycolysis | 14q24 |
| ENTPD6 | response to calcium ion; response to magnesium ion | 20p11.21 |
| ENTPD7 | - | - |
| ENTPD8 | nucleoside diphosphate biosynthetic process; nucleoside monophosphate biosynthetic process | 9q34.3 |
| ENY2 | transport; chromatin modification; histone deubiquitination; positive regulation of transcription, DNA-dependent; mRNA transport | 8q23.1 |
| EOGT | - | 3p14.1 |
| EOMES | mesodermal to mesenchymal transition involved in gastrulation; endoderm formation; mesoderm formation; endodermal cell fate specification; blastocyst development; trophectodermal cell differentiation; CD8-positive, alpha-beta T cell differentiation involved in immune response; multicellular organismal development; brain development; cerebral cortex neuron differentiation; positive regulation of cell differentiation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; cell differentiation involved in embryonic placenta development | 3p24.1 |
| EP300 | response to calcium ion; response to glucocorticoid stimulus; regulation of angiotensin metabolic process; positive regulation of sarcomere organization; regulation of androgen receptor signaling pathway; protein-DNA complex assembly; cellular response to hydrogen peroxide; response to fatty acid; skeletal muscle tissue development; heart development; nervous system development; cell cycle; apoptotic process; regulation of transcription, DNA-dependent; positive regulation of protein phosphorylation; liver development; somitogenesis; response to hypoxia; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cellular metabolic process; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; response to drug; positive regulation of protein import into nucleus, translocation; positive regulation of collagen biosynthetic process; response to retinoic acid; positive regulation of protein binding; response to cobalt ion; positive regu | 22q13.2 |
| EP300-AS1 | - | 22q13.2 |
| EP400 | regulation of transcription, DNA-dependent; histone H2A acetylation; histone H4 acetylation; chromatin modification | 12q24.33 |
| EP400NL | - | 12q24.33 |
| EPAG | - | Xq21.33 |
| EPAS1 | embryonic placenta development; erythrocyte differentiation; hemopoiesis; visual perception; multicellular organismal development; signal transduction; mitochondrion organization; response to oxidative stress; transcription from RNA polymerase II promoter; regulation of heart rate; blood vessel remodeling; response to hypoxia; angiogenesis; myoblast cell fate commitment; cell maturation; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter in response to oxidative stress; surfactant homeostasis; norepinephrine metabolic process; lung development; cell differentiation | 2p21-p16 |
| EPB41 | positive regulation of protein binding; blood circulation; actin cytoskeleton organization; cortical actin cytoskeleton organization | 1p33-p32 |
| EPB41L1 | synaptic transmission; cortical actin cytoskeleton organization | 20q11.2-q12 |
| EPB41L2 | cortical actin cytoskeleton organization | 6q23 |
| EPB41L3 | cortical actin cytoskeleton organization | 18p11.32 |
| EPB41L4A | - | 5q21.3 |
| EPB41L4A-AS1 | - | 5q22.2 |
| EPB41L4A-AS2 | - | 5q22.2 |
| EPB41L4B | - | 9q31-q32 |
| EPB41L5 | - | 2q14.2 |
| EPB42 | regulation of cell shape; peptide cross-linking; erythrocyte maturation | 15q15-q21 |
| EPC1 | negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent; chromatin modification; regulation of growth; histone H4 acetylation; histone H2A acetylation; negative regulation of gene expression, epigenetic; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 10p11 |
| EPC2 | chromatin modification; regulation of transcription, DNA-dependent; DNA repair | 2q23.1 |
| EPCAM | ureteric bud development; positive regulation of cell proliferation | 2p21 |
| EPDR1 | cell-matrix adhesion | 7p14.1 |
| EPG5 | autophagy | 18q12.3 |
| EPGN | activation of MAPK activity; MAPK cascade; angiogenesis; positive regulation of cell proliferation; positive regulation of MAP kinase activity; positive regulation of mitosis; positive regulation of epidermal growth factor-activated receptor activity; positive regulation of epithelial cell proliferation | 4q13.3 |
| EPHA1 | positive regulation of cell proliferation; activation of Rho GTPase activity; peptidyl-tyrosine phosphorylation; positive regulation of cell migration; negative regulation of cell migration; regulation of Rac GTPase activity; positive regulation of stress fiber assembly; protein autophosphorylation; positive regulation of angiogenesis; substrate adhesion-dependent cell spreading; cell adhesion; negative regulation of protein kinase activity; positive regulation of cell-matrix adhesion; cell surface receptor signaling pathway | 7q34 |
| EPHA1-AS1 | - | 7q35 |
| EPHA10 | - | 1p34.3 |
| EPHA2 | blood vessel development; skeletal system development; positive regulation of establishment of protein localization in plasma membrane; response to growth factor stimulus; regulation of ERK1 and ERK2 cascade; lens fiber cell morphogenesis; branching involved in mammary gland duct morphogenesis; cell chemotaxis; notochord cell development; negative regulation of protein kinase B signaling cascade; axial mesoderm formation; ephrin receptor signaling pathway; bone remodeling; regulation of angiogenesis; regulation of blood vessel endothelial cell migration; protein kinase B signaling cascade; regulation of cell adhesion mediated by integrin; vasculogenesis; osteoblast differentiation; apoptotic process; cell adhesion; multicellular organismal development; regulation of lamellipodium assembly; notochord formation; neural tube development; neuron differentiation; keratinocyte differentiation; osteoclast differentiation; activation of Rac GTPase activity; mammary gland epithelial cell proliferation; tail morphogene | 1p36 |
| EPHA3 | cell migration; fasciculation of motor neuron axon; fasciculation of sensory neuron axon; cellular response to retinoic acid; fever generation; apoptotic process; cell adhesion; regulation of epithelial to mesenchymal transition; positive regulation of neuron projection development; regulation of Rho GTPase activity; response to lipopolysaccharide; regulation of microtubule cytoskeleton organization; regulation of focal adhesion assembly; ephrin receptor signaling pathway; response to cytokine stimulus; regulation of actin cytoskeleton organization | 3p11.2 |
| EPHA4 | positive regulation of Rho guanyl-nucleotide exchange factor activity; peptidyl-tyrosine phosphorylation; fasciculation of sensory neuron axon; corticospinal tract morphogenesis; motor axon guidance; regulation of Rac GTPase activity; adult walking behavior; nervous system development; multicellular organismal development; cell adhesion; regulation of Rap GTPase activity; positive regulation of JUN kinase activity; protein autophosphorylation; negative regulation of axon regeneration; regulation of astrocyte differentiation; regulation of axonogenesis; regulation of dendritic spine morphogenesis; fasciculation of motor neuron axon | 2q36.1 |
| EPHA5 | nervous system development; regulation of insulin secretion involved in cellular response to glucose stimulus; dendritic spine morphogenesis; neuron development; ephrin receptor signaling pathway; regulation of actin cytoskeleton organization; positive regulation of CREB transcription factor activity; regulation of Rac GTPase activity; hippocampus development; cAMP-mediated signaling; axon guidance | 4q13.1 |
| EPHA5-AS1 | - | - |
| EPHA6 | - | 3q11.2 |
| EPHA7 | regulation of ERK1 and ERK2 cascade; multicellular organismal development; axon guidance; brain development; phosphorylation; regulation of cell-cell adhesion; retinal ganglion cell axon guidance; regulation of protein autophosphorylation; regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of neuron apoptosis; ephrin receptor signaling pathway; branching morphogenesis of a nerve; negative chemotaxis; regulation of peptidyl-tyrosine phosphorylation | 6q16.1 |
| EPHA8 | protein autophosphorylation; substrate-dependent cell migration; multicellular organismal development; nervous system development; axon guidance; neuron remodeling; regulation of cell adhesion; neuron projection development; regulation of cell adhesion mediated by integrin; positive regulation of MAPK cascade; positive regulation of phosphatidylinositol 3-kinase activity; ephrin receptor signaling pathway | 1p36.12 |
| EPHB1 | positive regulation of synapse assembly; cell-substrate adhesion; neural precursor cell proliferation; regulation of ERK1 and ERK2 cascade; dendritic spine morphogenesis; dendritic spine development; cell chemotaxis; detection of temperature stimulus involved in sensory perception of pain; camera-type eye morphogenesis; ephrin receptor signaling pathway; protein autophosphorylation; regulation of JNK cascade; retinal ganglion cell axon guidance; establishment of cell polarity; neurogenesis; central nervous system projection neuron axonogenesis; optic nerve morphogenesis; cranial nerve development; axon guidance; signal transduction; angiogenesis | 3q21-q23 |
| EPHB2 | commissural neuron axon guidance; urogenital system development; dendritic spine morphogenesis; dendritic spine development; palate development; positive regulation of synapse assembly; regulation of body fluid levels; ephrin receptor signaling pathway; inner ear morphogenesis; corpus callosum development; peptidyl-tyrosine phosphorylation; phosphorylation; axonal fasciculation; axon guidance; nervous system development; multicellular organismal development; protein phosphorylation; angiogenesis | 1p36.1-p35 |
| EPHB3 | signal transduction; angiogenesis; urogenital system development; multicellular organismal development; dendritic spine morphogenesis; dendritic spine development; palate development; positive regulation of synapse assembly; regulation of axonogenesis; digestive tract morphogenesis; thymus development; ephrin receptor signaling pathway; protein autophosphorylation; regulation of Cdc42 GTPase activity; regulation of Rac GTPase activity; retinal ganglion cell axon guidance; regulation of cell-cell adhesion; corpus callosum development; central nervous system projection neuron axonogenesis; cell migration; axonal fasciculation; axon guidance; nervous system development; substrate adhesion-dependent cell spreading | 3q21-qter |
| EPHB4 | multicellular organismal development; ephrin receptor signaling pathway; protein autophosphorylation; cell adhesion; cell migration involved in sprouting angiogenesis; angiogenesis; heart morphogenesis | 7q22 |
| EPHB6 | ephrin receptor signaling pathway | 7q33-q35 |
| EPHX1 | aromatic compound catabolic process; response to organic cyclic compound; response to toxin | 1q42.1 |
| EPHX2 | drug metabolic process; xenobiotic metabolic process; cellular calcium ion homeostasis; inflammatory response; regulation of blood pressure; response to toxin; reactive oxygen species metabolic process; positive regulation of vasodilation; aromatic compound catabolic process | 8p21 |
| EPHX3 | - | 19p13.12 |
| EPHX4 | - | 1p22.1 |
| EPM2A | peptidyl-tyrosine dephosphorylation; protein dephosphorylation; glycogen metabolic process; carbohydrate metabolic process | 6q24 |
| EPM2AIP1 | - | 3p22.1 |
| EPN1 | negative regulation of epidermal growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; endocytosis | 19q13.42 |
| EPN2 | regulation of endocytosis | 17p11.2 |
| EPN3 | - | 17q21.33 |
| EPOR | elevation of cytosolic calcium ion concentration; signal transduction; brain development; heart development; embryo development; cellular response to erythropoietin; decidualization | 19p13.3-p13.2 |
| EPPIN | - | 20q13.12 |
| EPPIN-WFDC6 | - | 20q |
| EPPK1 | - | 8q24.3 |
| EPRS | tRNA aminoacylation for protein translation; glutamyl-tRNA aminoacylation; prolyl-tRNA aminoacylation; protein complex assembly; gene expression | 1q41 |
| EPS15 | clathrin coat assembly; epidermal growth factor receptor signaling pathway; protein transport; vesicle organization; endocytic recycling; negative regulation of epidermal growth factor receptor signaling pathway; cell proliferation | 1p32 |
| EPS15L1 | epidermal growth factor receptor signaling pathway; endocytosis; negative regulation of epidermal growth factor receptor signaling pathway | 19p13.11 |
| EPS8 | cell proliferation; epidermal growth factor receptor signaling pathway; signal transduction | 12p12.3 |
| EPS8L1 | - | 19q13.42 |
| EPS8L2 | - | 11p15.5 |
| EPS8L3 | - | 1p13.3 |
| EPSTI1 | - | 13q13.3 |
| EPT1 | phospholipid biosynthetic process | 2p23.3 |
| EPX | hydrogen peroxide catabolic process; response to oxidative stress | 17q23.1 |
| EPYC | female pregnancy | 12q21 |
| EQTN | - | 9p21 |
| ERAL1 | ribosomal small subunit assembly; ribosome biogenesis | 17q11.2 |
| ERAP1 | antigen processing and presentation of endogenous peptide antigen via MHC class I; angiogenesis; antigen processing and presentation of peptide antigen via MHC class I; membrane protein ectodomain proteolysis; regulation of blood pressure; response to bacterium; proteolysis; regulation of innate immune response; fat cell differentiation | 5q15 |
| ERAP2 | antigen processing and presentation of endogenous peptide antigen via MHC class I; regulation of blood pressure; proteolysis; antigen processing and presentation of peptide antigen via MHC class I | 5q15 |
| ERAS | signal transduction; small GTPase mediated signal transduction | Xp11.23 |
| ERBB2 | protein autophosphorylation; phosphatidylinositol-mediated signaling; sympathetic nervous system development; response to axon injury; positive regulation of epithelial cell proliferation; mammary gland involution; estrus; regulation of ERK1 and ERK2 cascade; negative regulation of apoptotic process; motor axon guidance; positive regulation of Ras protein signal transduction; response to progesterone stimulus; regulation of microtubule-based process; negative regulation of immature T cell proliferation in thymus; wound healing; response to drug; myelination; positive regulation of Rho GTPase activity; mammary gland development; positive regulation of cell growth; signal transduction by phosphorylation; positive regulation of phosphatidylinositol 3-kinase cascade; phosphatidylinositol 3-kinase cascade; glial cell differentiation; cell proliferation; positive regulation of transcription from RNA polymerase III promoter; neuromuscular junction development; skeletal muscle tissue development; heart development; p | 17q12 |
| ERBB2IP | cell growth; integrin-mediated signaling pathway; epidermal growth factor receptor signaling pathway; intermediate filament cytoskeleton organization; basal protein localization; signal transduction; cell adhesion; cell cycle; establishment or maintenance of epithelial cell apical/basal polarity | 5q12.3 |
| ERBB3 | positive regulation of glucose import; phosphatidylinositol 3-kinase cascade; positive regulation of phosphatidylinositol 3-kinase cascade; cranial nerve development; cellular response to insulin stimulus; wound healing; regulation of cell proliferation; odontogenesis; response to drug; negative regulation of neuron apoptosis; tongue development; mammary gland involution; negative regulation of secretion; neuron apoptosis; negative regulation of signal transduction; positive regulation of protein tyrosine kinase activity; endocardial cushion development; negative regulation of cell adhesion; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; axonogenesis; peripheral nervous system development; heart development; skeletal muscle tissue development; circadian rhythm; Schwann cell differentiation | 12q13 |
| ERBB4 | positive regulation of STAT protein import into nucleus; positive regulation of ERK1 and ERK2 cascade; cardiac muscle tissue regeneration; mammary gland alveolus development; positive regulation of cardiac muscle cell proliferation; mammary gland epithelial cell differentiation; lactation; central nervous system morphogenesis; telencephalon development; peptidyl-tyrosine phosphorylation; cell migration; embryonic pattern specification; negative regulation of cell proliferation; positive regulation of cell proliferation; cell proliferation; positive regulation of epithelial cell proliferation; heart development; nervous system development; multicellular organismal development; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; apoptotic process; positive regulation of protein phosphorylation; neural crest cell migration; regulation of cell migration; synapse maturation; protein autophosphorylation; positive regulation of glucose import; positive regulation of transcription, | 2q33.3-q34 |
| ERC1 | positive regulation of NF-kappaB transcription factor activity; regulation of transcription, DNA-dependent; I-kappaB phosphorylation; multicellular organismal development; protein transport; retrograde transport, endosome to Golgi; positive regulation of anti-apoptosis | 12p13.3 |
| ERC2 | - | 3p14.3 |
| ERC2-IT1 | - | 3p14.3 |
| ERCC1 | multicellular organism growth; nucleotide-excision repair, DNA damage removal; chromosome organization; embryonic organ development; oogenesis; isotype switching; negative regulation of apoptotic process; post-embryonic hemopoiesis; negative regulation of telomere maintenance; multicellular organismal aging; response to X-ray; response to sucrose stimulus; UV protection; response to abiotic stimulus; male gonad development; cell proliferation; response to nutrient; germ cell development; pyrimidine dimer repair by nucleotide-excision repair; replicative cell aging; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; nucleotide-excision repair, DNA incision, 3'-to lesion; nucleotide-excision repair, DNA incision, 5'-to lesion; double-strand break repair; DNA recombination; mitotic recombination; syncytium formation; response to oxidative stress; spermatogenesis | 19q13.32 |
| ERCC2 | nucleotide-excision repair, DNA damage removal; hemopoietic stem cell differentiation; positive regulation of viral transcription; hair follicle maturation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; interspecies interaction between organisms; transcription initiation from RNA polymerase I promoter; response to oxidative stress; induction of apoptosis; protein phosphorylation; mRNA capping; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; termination of RNA polymerase I transcription; transcription elongation from RNA polymerase I promoter; positive regulation of DNA binding; transcription from RNA polymerase I promoter; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; nucleobase-containing compound metabolic process; in utero embryonic development; response to hypoxia; cell cyc | 19q13.3 |
| ERCC3 | transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; mRNA capping; protein phosphorylation; termination of RNA polymerase I transcription; transcription elongation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; induction of apoptosis; response to oxidative stress; protein localization; response to UV; UV protection; gene expression; viral reproduction; nucleotide-excision repair, DNA incision; hair cell differentiation; interspecies interaction between organisms; positive regulation of transcription from RNA polymerase II promoter; positive regulation of viral transcription; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; DNA repair; DNA topological change; ATP catabolic process; response to hypoxia; nucleotide-excision repair, DNA damage removal; nucleotide-excision repair, DNA duplex | 2q21 |
| ERCC4 | nucleotide-excision repair, DNA damage removal; double-strand break repair via homologous recombination; telomere maintenance; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; nucleotide-excision repair, DNA incision, 3'-to lesion; nucleotide-excision repair, DNA incision, 5'-to lesion; response to UV; UV protection; telomere maintenance via telomere shortening; negative regulation of telomere maintenance; nucleotide-excision repair, DNA incision; meiotic mismatch repair; resolution of meiotic recombination intermediates | 16p13.12 |
| ERCC5 | nucleotide-excision repair, DNA damage removal; negative regulation of apoptotic process; multicellular organism growth; response to UV-C; UV protection; response to UV; determination of adult lifespan; nucleotide-excision repair, DNA incision, 3'-to lesion; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair | 13q33 |
| ERCC6 | photoreceptor cell maintenance; positive regulation of transcription elongation, DNA-dependent; regulation of transcription elongation, DNA-dependent; response to gamma radiation; response to UV-B; response to X-ray; response to UV; DNA damage response, signal transduction resulting in induction of apoptosis; activation of JUN kinase activity; activation of JNKK activity; response to toxin; response to oxidative stress; transcription from RNA polymerase II promoter; pyrimidine dimer repair; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; response to superoxide; base-excision repair | 10q11.23 |
| ERCC6L | cell division; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | Xq13.1 |
| ERCC6L2 | DNA repair | 9q22.32 |
| ERCC8 | protein autoubiquitination; positive regulation of DNA repair; proteasomal ubiquitin-dependent protein catabolic process; response to X-ray; protein polyubiquitination; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; response to DNA damage stimulus; response to oxidative stress; response to UV | 5q12.1 |
| EREG | wound healing; positive regulation of cell division; ovulation; keratinocyte differentiation; cell differentiation; cytokine-mediated signaling pathway; organ morphogenesis; anatomical structure morphogenesis; mRNA transcription; positive regulation of innate immune response; keratinocyte proliferation; response to peptide hormone stimulus; negative regulation of cell proliferation; angiogenesis; ovarian cumulus expansion; oocyte maturation; positive regulation of cytokine production; female meiosis; epidermal growth factor receptor signaling pathway; cell-cell signaling; multicellular organismal development; positive regulation of cell proliferation; positive regulation of phosphorylation; positive regulation of interleukin-6 biosynthetic process; positive regulation of DNA replication; positive regulation of epidermal growth factor-activated receptor activity; positive regulation of mitosis; positive regulation of protein kinase activity; luteinizing hormone signaling pathway; negative regulation of transcr | 4q13.3 |
| ERF | regulation of transcription from RNA polymerase II promoter; cell proliferation | 19q13 |
| ERG | protein phosphorylation; signal transduction; multicellular organismal development; cell proliferation | 21q22.3 |
| ERGIC1 | vesicle-mediated transport; ER to Golgi vesicle-mediated transport | 5q35.1 |
| ERGIC2 | vesicle-mediated transport | 12p11.22 |
| ERGIC3 | vesicle-mediated transport | 20pter-q12 |
| ERH | nucleobase-containing compound metabolic process; pyrimidine nucleoside metabolic process; cell cycle | 14q24.1|7q34 |
| ERHP1 | - | 7q34 |
| ERI1 | gene silencing by RNA; histone mRNA catabolic process; rRNA 3'-end processing | 8p23.1 |
| ERI2 | - | 16p12.3 |
| ERI3 | - | 1p32 |
| ERI3-IT1 | - | - |
| ERICH1 | - | 8p23.3 |
| ERICH2 | - | 2q31.1 |
| ERICH3 | - | 1p31.1 |
| ERICH4 | - | 19q13.2 |
| ERICH5 | - | 8q22.2 |
| ERICH6 | - | 3q25.1 |
| ERICH6-AS1 | - | 3q25.1 |
| ERICH6B | - | 13q14.13 |
| ERLEC1 | ER-associated protein catabolic process | 2p16.2 |
| ERLEC1P1 | - | 21q11.2 |
| ERLIN1 | ER-associated protein catabolic process | 10q21-q22 |
| ERLIN2 | ER-associated protein catabolic process | 8p11.2 |
| ERMAP | - | 1p34.2 |
| ERMARD | - | 6q27 |
| ERMN | morphogenesis of a branching structure; regulation of cell projection organization; regulation of cell shape; actin filament organization | 2q24.1 |
| ERMP1 | ovarian follicle development; proteolysis | 9p24 |
| ERN1 | protein autophosphorylation; positive regulation of endoplasmic reticulum unfolded protein response; regulation of transcription, DNA-dependent; mRNA processing; protein phosphorylation; apoptotic process; induction of apoptosis; response to unfolded protein; activation of signaling protein activity involved in unfolded protein response; cell cycle arrest; endoplasmic reticulum unfolded protein response | 17q24.2 |
| ERN2 | apoptotic process; induction of apoptosis; response to stress; cell cycle arrest; protein phosphorylation; mRNA processing; negative regulation of transcription, DNA-dependent; rRNA catabolic process | 16p12.2 |
| ERO1A | oxidation-reduction process; endoplasmic reticulum unfolded protein response; protein folding; protein modification process; protein thiol-disulfide exchange; transport; response to temperature stimulus; electron transport chain; chaperone mediated protein folding requiring cofactor; brown fat cell differentiation | 14q22.1 |
| ERO1B | electron transport chain; oxidation-reduction process; protein thiol-disulfide exchange; protein folding; transport | 1q42.2-q43 |
| ERP27 | - | 12p12.3 |
| ERP29 | protein secretion; intracellular protein transport; protein folding | 12q24.13 |
| ERP44 | protein folding; response to stress; response to unfolded protein; glycoprotein metabolic process; cell redox homeostasis | 9q31.1 |
| ERRFI1 | response to stress; lung epithelium development; negative regulation of epidermal growth factor-activated receptor activity; negative regulation of protein autophosphorylation; positive regulation of Rho GTPase activity; skin morphogenesis; regulation of keratinocyte differentiation; lung alveolus development; negative regulation of peptidyl-tyrosine phosphorylation; lung vasculature development | 1p36 |
| ERV18-1 | - | - |
| ERV3-1 | - | 7q11.2 |
| ERV3-2 | - | 7q33 |
| ERV9-1 | - | 11q13.2 |
| ERVE-1 | - | 17q11.2 |
| ERVE-4 | - | 6q15 |
| ERVFC1-1 | - | 7q36.2 |
| ERVFH21-1 | - | 7p21.3 |
| ERVFRD-1 | - | 6p24.1 |
| ERVH-1 | - | 4p15.2 |
| ERVH-3 | - | 6q12 |
| ERVH-4 | - | - |
| ERVH-6 | - | Yq11.223 |
| ERVH48-1 | - | 21q22.3 |
| ERVI-1 | - | - |
| ERVK-11 | - | 3q27.2 |
| ERVK-7 | - | 1q22 |
| ERVK11-1 | - | 1p13.3 |
| ERVK13-1 | - | 16p13.3 |
| ERVK3-2 | - | 14q24.2 |
| ERVMER34-1 | - | 4q12 |
| ERVMER61-1 | - | 1q31.1 |
| ERVV-1 | - | 19q13.41 |
| ERVV-2 | - | - |
| ERVW-6 | - | 11q14.1 |
| ESAM | homophilic cell adhesion; blood coagulation; leukocyte migration | 11q24.2 |
| ESCO1 | regulation of DNA replication; cell cycle; post-translational protein acetylation | 18q11.2 |
| ESCO2 | post-translational protein acetylation; regulation of DNA replication; cell cycle | 8p21.1 |
| ESD | metabolic process | 13q14.1-q14.2 |
| ESF1 | regulation of transcription, DNA-dependent | 20p12.1 |
| ESM1 | angiogenesis; regulation of cell growth | 5q11.2 |
| ESPL1 | chromosome segregation; apoptotic process; proteolysis; cytokinesis; meiotic spindle organization; mitotic sister chromatid segregation; metabolic process; establishment of mitotic spindle localization; homologous chromosome segregation; positive regulation of mitotic metaphase/anaphase transition; negative regulation of sister chromatid cohesion | 12q |
| ESPN | negative regulation of cytoskeleton organization; parallel actin filament bundle assembly; locomotory behavior; sensory perception of sound | 1p36.31 |
| ESPNL | - | 2q37.3 |
| ESPNP | - | 1p36.13 |
| ESR1 | intracellular estrogen receptor signaling pathway; cellular response to estrogen stimulus; positive regulation of ERK1 and ERK2 cascade; epithelial cell proliferation involved in mammary gland duct elongation; mammary gland alveolus development; mammary gland branching involved in pregnancy; regulation of branching involved in prostate gland morphogenesis; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis; regulation of apoptotic process; prostate epithelial cord elongation; antral ovarian follicle growth; epithelial cell development; osteoblast development; transcription, DNA-dependent; regulation of transcription, DNA-dependent; signal transduction; androgen metabolic process; gene expression; negative regulation of gene expression; response to estradiol stimulus; vagina development; negative regulation of I-kappaB kinase/NF-kappaB cascade; steroid hormone mediated signaling pathway; negative regulation of sequence-specific DNA binding transcription factor activity; n | 6q25.1 |
| ESR2 | positive regulation of apoptotic process; vagina development; intracellular receptor mediated signaling pathway; intracellular estrogen receptor signaling pathway; negative regulation of cell growth; gene expression; negative regulation of signal transduction; brain development; cell-cell signaling; signal transduction; regulation of transcription, DNA-dependent; neuron migration; ovarian follicle development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of epithelial cell proliferation; positive regulation of sequence-specific DNA binding transcription factor activity; uterus development; prostate gland epithelium morphogenesis; epithelial cell maturation involved in prostate gland development; negative regulation of androgen receptor signaling pathway; steroid hormone mediated signaling pathway | 14q23.2 |
| ESRP1 | mRNA processing; regulation of RNA splicing | 8q22.1 |
| ESRP2 | mRNA processing; regulation of RNA splicing | 16q22.1 |
| ESRRA | regulation of osteoclast differentiation; gene expression; intracellular receptor mediated signaling pathway; regulation of cell proliferation; regulation of osteoblast differentiation; positive regulation of transcription from RNA polymerase II promoter; cartilage development | 11q13 |
| ESRRAP1 | - | 13q12.1 |
| ESRRAP2 | - | 13q12.11 |
| ESRRB | embryonic placenta development; gene expression; intracellular receptor mediated signaling pathway; positive regulation of transcription from RNA polymerase II promoter | 14q24.3 |
| ESRRG | gene expression; positive regulation of transcription, DNA-dependent | 1q41 |
| ESX1 | labyrinthine layer blood vessel development; labyrinthine layer morphogenesis; regulation of cell cycle; negative regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; blood vessel development | Xq22.1 |
| ESYT1 | - | 12q13.2 |
| ESYT2 | - | 7q36.3 |
| ESYT3 | - | 3q22.3 |
| ETAA1 | - | 2p14 |
| ETF1 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; cellular protein metabolic process; mRNA metabolic process; RNA metabolic process; gene expression; protein methylation; regulation of translational termination; translational termination; translation | 5q31.1 |
| ETF1P3 | - | Xq12 |
| ETFA | oxidation-reduction process; small molecule metabolic process; respiratory electron transport chain; transport | 15q23-q25 |
| ETFB | respiratory electron transport chain; transport; small molecule metabolic process | 19q13.3 |
| ETFDH | transport; response to oxidative stress; electron transport chain; respiratory electron transport chain; fatty acid beta-oxidation using acyl-CoA dehydrogenase; small molecule metabolic process | 4q32-q35 |
| ETHE1 | sulfur amino acid metabolic process; sulfide oxidation, using sulfide:quinone oxidoreductase; small molecule metabolic process; sulfur amino acid catabolic process; cellular nitrogen compound metabolic process | 19q13.31 |
| ETNK1 | phospholipid biosynthetic process; phosphatidylethanolamine biosynthetic process | 12p12.1 |
| ETNK2 | in utero embryonic development; multicellular organism growth; post-embryonic development; phospholipid biosynthetic process; phosphatidylethanolamine biosynthetic process; placenta development | 1q32.1 |
| ETNPPL | - | 4q25 |
| ETS1 | PML body organization; response to hypoxia; transcription from RNA polymerase II promoter; anti-apoptosis; induction of apoptosis; response to laminar fluid shear stress; response to estradiol stimulus; positive regulation of erythrocyte differentiation; positive regulation of cell migration; pituitary gland development; hypothalamus development; regulation of extracellular matrix disassembly; response to mechanical stimulus; response to wounding; negative regulation of cell proliferation; positive regulation of cell proliferation; female pregnancy; immune response; angiogenesis involved in wound healing; positive regulation of angiogenesis; negative regulation of cell cycle; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; response to antibiotic; cell motility; positive regulation of cellular component movement; response to interleukin-1; cellular response to hydrogen peroxide; estrous cycle phase | 11q23.3 |
| ETS2 | positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; skeletal system development | 21q22.2 |
| ETV1 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; peripheral nervous system neuron development | 7p21.3 |
| ETV2 | mesoderm formation; blastocyst development; placenta development; apoptotic process; Notch signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of endothelial cell differentiation; erythrocyte differentiation; hemopoiesis; Wnt receptor signaling pathway; positive regulation of gene expression; positive regulation of mesoderm development; BMP signaling pathway involved in mesodermal cell fate specification; blood vessel morphogenesis | 19q13.12 |
| ETV3 | - | 1q21-q23 |
| ETV4 | negative regulation of mammary gland epithelial cell proliferation; regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; stem cell differentiation; motor axon guidance; regulation of branching involved in mammary gland duct morphogenesis | 17q21 |
| ETV5 | male germ-line stem cell division; regulation of transcription, DNA-dependent; cellular response to oxidative stress; positive regulation of neuron differentiation; positive regulation of transcription, DNA-dependent; regulation of branching involved in mammary gland duct morphogenesis; positive regulation of glial cell proliferation | 3q28 |
| ETV6 | regulation of transcription, DNA-dependent | 12p13 |
| ETV7 | organ morphogenesis; transcription from RNA polymerase II promoter | 6p21 |
| EVA1A | - | 2p12 |
| EVA1B | - | 1p34.3 |
| EVA1C | - | 21q22.11 |
| EVC | positive regulation of smoothened signaling pathway; muscle organ development; endochondral bone growth; skeletal system development; cartilage development | 4p16 |
| EVC2 | smoothened signaling pathway | 4p16.2-p16.1 |
| EVI2A | - | 17q11.2 |
| EVI2B | - | 17q11.2 |
| EVI5 | cell division; multicellular organismal development; cell cycle; cell proliferation | 1p22.1 |
| EVI5L | - | 19p13.2 |
| EVL | nervous system development; axon guidance; actin polymerization or depolymerization; actin filament organization; cell surface receptor signaling pathway; organ morphogenesis; protein homotetramerization | 14q32.2 |
| EVPL | epidermis development; peptide cross-linking; keratinocyte differentiation; keratinization | 17q25 |
| EVPLL | - | 17p11.2 |
| EVX1 | multicellular organismal development; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification; embryo development ending in birth or egg hatching; regulation of transcription, DNA-dependent | 7p15.2 |
| EWSAT1 | - | 15q23 |
| EWSR1 | regulation of transcription, DNA-dependent | 22q12.2 |
| EXD1 | nucleobase-containing compound metabolic process | 15q15.1 |
| EXD2 | nucleobase-containing compound metabolic process | 14q24.1 |
| EXD3 | nucleobase-containing compound metabolic process | 9q34.3 |
| EXO1 | humoral immune response mediated by circulating immunoglobulin; DNA repair; mismatch repair; meiosis; somatic hypermutation of immunoglobulin genes; isotype switching; DNA recombination | 1q42-q43 |
| EXO5 | - | 1p34.2 |
| EXOC1 | protein transport; exocytosis | 4q12 |
| EXOC2 | protein transport; exocytosis | 6p25.3 |
| EXOC3 | exocytosis; protein transport | 5p15.33 |
| EXOC3-AS1 | - | 5p15.33 |
| EXOC3L1 | peptide hormone secretion; exocytosis | 16q22.1 |
| EXOC3L2 | - | 19q13.32 |
| EXOC3L4 | - | 14q32.32 |
| EXOC4 | oligodendrocyte differentiation; positive regulation of calcium-mediated signaling; regulation of protein transport; membrane biogenesis; establishment of cell polarity; Golgi to transport vesicle transport; synaptic transmission; vesicle docking involved in exocytosis; protein targeting to membrane | 7q31 |
| EXOC5 | protein transport; post-Golgi vesicle-mediated transport; exocytosis; vesicle docking | 14q22.3 |
| EXOC5P1 | - | 4q13.1 |
| EXOC6 | protein transport; vesicle docking involved in exocytosis | 10q23.33 |
| EXOC6B | vesicle docking involved in exocytosis; protein transport | 2p13.2 |
| EXOC7 | exocytosis; protein transport | 17q25.1 |
| EXOC7P1 | - | 4q25 |
| EXOC8 | protein transport; exocytosis | 1q42.2 |
| EXOG | - | 3p21.3 |
| EXOGP1 | - | 18q11.1 |
| EXOSC1 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA metabolic process; RNA metabolic process; gene expression; rRNA processing; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 10q24 |
| EXOSC10 | nuclear retention of unspliced pre-mRNA at the site of transcription; nuclear-transcribed mRNA catabolic process; nucleobase-containing compound metabolic process; RNA processing; cellular metabolic process; CUT catabolic process; histone mRNA catabolic process; nuclear polyadenylation-dependent rRNA catabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; maturation of 5.8S rRNA; nuclear mRNA surveillance | 1p36.22 |
| EXOSC2 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; rRNA processing; gene expression; RNA metabolic process; mRNA metabolic process; positive regulation of cell growth | 9q34 |
| EXOSC3 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; RNA metabolic process; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; DNA deamination; isotype switching; CUT catabolic process; rRNA processing | 9p11 |
| EXOSC3P1 | - | 21q22.11 |
| EXOSC3P2 | - | 19p13.2 |
| EXOSC4 | maturation of 5.8S rRNA; gene expression; RNA metabolic process; mRNA metabolic process; positive regulation of cell growth; histone mRNA catabolic process; nuclear mRNA surveillance; DNA deamination; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; RNA processing; rRNA processing; nuclear-transcribed mRNA catabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 8q24.3 |
| EXOSC5 | DNA deamination; RNA metabolic process; mRNA metabolic process; RNA processing; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; gene expression; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; rRNA processing | 19q13.1 |
| EXOSC6 | RNA metabolic process; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; DNA deamination; isotype switching; gene expression; RNA processing; rRNA processing; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 16q22.1 |
| EXOSC7 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; rRNA processing; RNA processing; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; mRNA metabolic process; RNA catabolic process; RNA metabolic process; gene expression | 3p21.31 |
| EXOSC8 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA metabolic process; RNA metabolic process; gene expression; RNA processing; rRNA processing; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 13q13.1 |
| EXOSC9 | RNA metabolic process; nuclear polyadenylation-dependent rRNA catabolic process; nuclear mRNA surveillance; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; positive regulation of cell growth; mRNA metabolic process; gene expression; immune response; RNA processing; rRNA processing; nuclear-transcribed mRNA catabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 4q27 |
| EXPH5 | positive regulation of exocytosis; multivesicular body sorting pathway; intracellular protein transport; positive regulation of protein secretion | 11q22.3 |
| EXT1 | cellular polysaccharide biosynthetic process; olfactory bulb development; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; heparan sulfate proteoglycan biosynthetic process; mesoderm development; endoderm development; brain development; gastrulation; signal transduction; glycosaminoglycan biosynthetic process; ossification; skeletal system development; axon guidance | 8q24.11 |
| EXT2 | cell differentiation; cellular polysaccharide biosynthetic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; heparan sulfate proteoglycan biosynthetic process; signal transduction; glycosaminoglycan biosynthetic process; mesoderm formation; ossification | 11p12-p11 |
| EXTL1 | skeletal system development | 1p36.1 |
| EXTL2 | N-acetylglucosamine metabolic process; UDP-N-acetylgalactosamine metabolic process | 1p21 |
| EXTL3 | activation of signaling protein activity involved in unfolded protein response; positive regulation of cell growth; endoplasmic reticulum unfolded protein response | 8p21 |
| EXTL3-AS1 | - | 8p21.1 |
| EYA1 | histone dephosphorylation; peptidyl-tyrosine dephosphorylation; protein sumoylation; positive regulation of DNA repair; chromatin modification; response to ionizing radiation; sensory perception of sound; multicellular organismal development; regulation of transcription, DNA-dependent; double-strand break repair; anatomical structure morphogenesis | 8q13.3 |
| EYA2 | mesodermal cell fate specification; peptidyl-tyrosine dephosphorylation; histone dephosphorylation; chromatin modification; striated muscle tissue development; multicellular organismal development; apoptotic process; regulation of transcription, DNA-dependent; DNA repair | 20q13.1 |
| EYA3 | double-strand break repair; positive regulation of DNA repair; peptidyl-tyrosine dephosphorylation; histone dephosphorylation; chromatin modification; response to ionizing radiation; anatomical structure morphogenesis; visual perception; multicellular organismal development; regulation of transcription, DNA-dependent | 1p36 |
| EYA4 | chromatin modification; anatomical structure morphogenesis; visual perception; multicellular organismal development; regulation of transcription, DNA-dependent; DNA repair | 6q23 |
| EYS | response to stimulus; visual perception | 6q12 |
| EZH1 | peptidyl-lysine methylation; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; anatomical structure morphogenesis; chromatin modification | 17q21.1-q21.3 |
| EZH2 | chromatin modification; regulation of transcription, DNA-dependent; chromatin organization; negative regulation of retinoic acid receptor signaling pathway; negative regulation of transcription, DNA-dependent; histone methylation | 7q35-q36 |
| EZR | actin filament bundle assembly; epithelial cell differentiation; membrane to membrane docking; regulation of cell shape; axon guidance; establishment or maintenance of apical/basal cell polarity; cytoskeletal anchoring at plasma membrane; leukocyte cell-cell adhesion | 6q25.3 |
| F10 | peptidyl-glutamic acid carboxylation; positive regulation of protein kinase B signaling cascade; cellular protein metabolic process; post-translational protein modification; positive regulation of cell migration; blood coagulation, extrinsic pathway; blood coagulation, intrinsic pathway; blood coagulation; proteolysis | 13q34 |
| F10-AS1 | - | 13q34 |
| F11 | positive regulation of fibrinolysis; plasminogen activation; regulation of blood coagulation; blood coagulation, intrinsic pathway; blood coagulation; proteolysis | 4q35 |
| F11-AS1 | - | 4q35.2 |
| F11R | cell adhesion; tight junction assembly; leukocyte migration; cell-cell junction organization; interspecies interaction between organisms; cell junction assembly; epithelial cell differentiation; inflammatory response; blood coagulation | 1q21.2-q21.3 |
| F12 | zymogen activation; Factor XII activation; plasma kallikrein-kinin cascade; proteolysis; blood coagulation; blood coagulation, intrinsic pathway; positive regulation of plasminogen activation; protein processing; protein autoprocessing; positive regulation of blood coagulation; innate immune response; response to misfolded protein; positive regulation of fibrinolysis | 5q33-qter |
| F13A1 | platelet degranulation; blood coagulation; peptide cross-linking; platelet activation | 6p25.3-p24.3 |
| F13B | blood coagulation | 1q31-q32.1 |
| F2 | positive regulation of blood coagulation; blood coagulation; multicellular organismal development; cell surface receptor signaling pathway; acute-phase response; proteolysis; positive regulation of protein phosphorylation; positive regulation of cell proliferation; regulation of blood coagulation; positive regulation of cell growth; positive regulation of collagen biosynthetic process; fibrinolysis; post-translational protein modification; cellular protein metabolic process; negative regulation of proteolysis; negative regulation of astrocyte differentiation; leukocyte migration; positive regulation of release of sequestered calcium ion into cytosol; cytosolic calcium ion homeostasis; negative regulation of fibrinolysis; positive regulation of reactive oxygen species metabolic process; platelet activation; peptidyl-glutamic acid carboxylation; positive regulation of phosphatidylinositol 3-kinase cascade; negative regulation of platelet activation; response to wounding; regulation of cell shape; blood coagulat | 11p11 |
| F2R | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of interleukin-6 secretion; positive regulation of interleukin-8 secretion; thrombin receptor signaling pathway; STAT protein import into nucleus; regulation of blood coagulation; platelet activation; death; positive regulation of phosphatidylinositol 3-kinase cascade; anatomical structure morphogenesis; response to wounding; negative regulation of cell proliferation; positive regulation of cell proliferation; blood coagulation; establishment of synaptic specificity at neuromuscular junction; platelet dense granule organization; tyrosine phosphorylation of STAT protein; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway; inflammatory response; activation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of glomerular filt | 5q13 |
| F2RL1 | negative regulation of tumor necrosis factor-mediated signaling pathway; positive regulation of interleukin-6 secretion; positive regulation of interleukin-8 secretion; mature dendritic cell differentiation; negative regulation of chemokine secretion; negative regulation of JNK cascade; chemokine (C-C motif) ligand 2 secretion; neutrophil activation; regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of eosinophil degranulation; innate immune response; positive regulation of vasodilation; positive regulation of transcription from RNA polymerase II promoter; regulation of JNK cascade; positive regulation of Rho protein signal transduction; positive regulation of JNK cascade; interleukin-1 beta secretion; leukocyte migration; positive regulation of chemotaxis; positive regulation of positive chemotaxis; defense response to virus; positive regulation of phagocytosis, engulfment; establishment of endothelial barrier; positive regulation o | 5q13 |
| F2RL2 | blood coagulation; response to wounding; platelet activation; thrombin receptor signaling pathway | 5q13 |
| F2RL3 | thrombin receptor signaling pathway; positive regulation of release of sequestered calcium ion into cytosol; platelet activation; response to wounding; platelet dense granule organization; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; signal transduction; blood coagulation | 19p12 |
| F3 | positive regulation of platelet-derived growth factor receptor signaling pathway; response to temperature stimulus; positive regulation of smooth muscle cell migration; positive regulation of cell migration; response to estradiol stimulus; response to lipopolysaccharide; response to fluid shear stress; positive regulation of angiogenesis; positive regulation of positive chemotaxis; positive regulation of protein kinase B signaling cascade; response to low-density lipoprotein particle stimulus; cellular response to hydrogen peroxide; response to wounding; positive regulation of endothelial cell proliferation; activation of plasma proteins involved in acute inflammatory response; activation of blood coagulation via clotting cascade; anti-apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; aging; blood coagulation; blood coagulation, extrinsic pathway; response to mechanical stimulus | 1p22-p21 |
| F5 | platelet degranulation; cell adhesion; platelet activation; blood circulation; blood coagulation | 1q23 |
| F7 | blood coagulation, extrinsic pathway; blood coagulation; proteolysis; circadian rhythm; response to hormone stimulus; positive regulation of platelet-derived growth factor receptor signaling pathway; response to organic cyclic compound; peptidyl-glutamic acid carboxylation; positive regulation of blood coagulation; positive regulation of cell migration; organ regeneration; response to nutrient levels; response to vitamin K; response to estrogen stimulus; post-translational protein modification; cellular protein metabolic process; positive regulation of positive chemotaxis; positive regulation of protein kinase B signaling cascade; response to growth hormone stimulus; positive regulation of leukocyte chemotaxis; anti-apoptosis | 13q34 |
| F8 | platelet degranulation; acute-phase response; cell adhesion; blood coagulation; blood coagulation, intrinsic pathway; platelet activation | Xq28 |
| FA2H | sphingolipid metabolic process; fatty acid biosynthetic process; electron transport chain; cell death; transport | 16q23 |
| FAAH | fatty acid catabolic process | 1p35-p34 |
| FAAH2 | - | Xp11.21 |
| FAAHP1 | - | 1p33 |
| FAAP100 | DNA repair | 17q25.3 |
| FAAP20 | - | 1p36.33 |
| FAAP24 | DNA repair | 19q13.11 |
| FABP1 | positive regulation of hydrolase activity; intestinal absorption; positive regulation of cell proliferation; organ morphogenesis; positive regulation of fatty acid beta-oxidation; cellular lipid metabolic process; small molecule metabolic process | 2p11 |
| FABP2 | intestinal absorption; digestion; fatty acid metabolic process | 4q28-q31 |
| FABP3 | fatty acid metabolic process; phosphatidylcholine biosynthetic process; negative regulation of cell proliferation; response to insulin stimulus; response to drug; response to fatty acid | 1p33-p32 |
| FABP4 | cholesterol homeostasis; brown fat cell differentiation; small molecule metabolic process; triglyceride catabolic process; lipid metabolic process; negative regulation of protein kinase activity; cytokine production; cellular response to lithium ion; white fat cell differentiation; positive regulation of inflammatory response; negative regulation of transcription, DNA-dependent | 8q21 |
| FABP5 | epidermis development; glucose transport; glucose metabolic process; lipid metabolic process; phosphatidylcholine biosynthetic process | 8q21.13 |
| FABP5P10 | - | 2q23.3 |
| FABP5P12 | - | 4q32.1 |
| FABP5P14 | - | - |
| FABP5P3 | glucose metabolic process; lipid metabolic process; phosphatidylcholine biosynthetic process; glucose transport | 7q36.1 |
| FABP5P4 | - | 13q31.3 |
| FABP5P5 | - | 5q15 |
| FABP5P6 | - | 5q23.1 |
| FABP5P7 | - | 11q12.1 |
| FABP6 | lipid metabolic process; bile acid metabolic process; negative regulation of cell proliferation; bile acid and bile salt transport; small molecule metabolic process | 5q33.3-q34 |
| FABP7 | prepulse inhibition; epithelial cell proliferation; neurogenesis; cell proliferation in forebrain; negative regulation of cell proliferation; nervous system development | 6q22-q23 |
| FABP7P1 | - | 1q44 |
| FADD | apoptotic process; innate immune response; necrotic cell death; cellular response to mechanical stimulus; extrinsic apoptotic signaling pathway; positive regulation of extrinsic apoptotic signaling pathway; positive regulation of type I interferon-mediated signaling pathway; defense response to virus; positive regulation of transcription from RNA polymerase II promoter; interspecies interaction between organisms; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of apoptotic process; positive regulation of tumor necrosis factor production; positive regulation of interleukin-8 production; activation of pro-apoptotic gene products; induction of apoptosis via death domain receptors; induction of apoptosis by extracellular signals; signal transduction; activation of cysteine-type endopeptidase activity involved in apoptotic process | 11q13.3 |
| FADS1 | regulation of transcription, DNA-dependent; unsaturated fatty acid biosynthetic process; transport; response to stress; cell-cell signaling; aging; response to nutrient; phospholipid biosynthetic process; cellular response to starvation; response to sucrose stimulus; response to organic cyclic compound; arachidonic acid metabolic process; electron transport chain; response to insulin stimulus; response to vitamin A; cellular lipid metabolic process; small molecule metabolic process; regulation of cell differentiation; icosanoid biosynthetic process; oxidation-reduction process | 11q12.2-q13.1 |
| FADS2 | electron transport chain; unsaturated fatty acid biosynthetic process; transport | 11q12.2 |
| FADS3 | transport; unsaturated fatty acid biosynthetic process; electron transport chain | 11q12-q13.1 |
| FADS6 | fatty acid biosynthetic process | 17q25.1 |
| FAF1 | cytoplasmic sequestering of NF-kappaB; regulation of protein catabolic process; positive regulation of protein complex assembly; regulation of cell adhesion; cell death; positive regulation of apoptotic process; proteasomal ubiquitin-dependent protein catabolic process | 1p33 |
| FAF2 | response to unfolded protein | 5q35.2 |
| FAF2P1 | - | 10q23.32 |
| FAH | small molecule metabolic process; cellular nitrogen compound metabolic process; aromatic amino acid family metabolic process; tyrosine catabolic process; L-phenylalanine catabolic process; arginine catabolic process | 15q25.1 |
| FAHD1 | - | 16p13.3 |
| FAHD2A | - | 2q11.2 |
| FAHD2B | - | 2q11.2 |
| FAHD2CP | - | 2q11.1 |
| FAHD2P1 | - | 12q15 |
| FAIM | anti-apoptosis | 3q22.3 |
| FAIM2 | apoptotic process; anti-apoptosis; central nervous system development; regulation of neuron apoptosis; cerebellar Purkinje cell differentiation; cerebellar granular layer development; cerebellar Purkinje cell layer development; cerebellum development | 12q13 |
| FAM101A | - | 12q24.31 |
| FAM101B | - | 17p13 |
| FAM102A | - | 9q34.11 |
| FAM102B | - | 1p13.3 |
| FAM103A1 | recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex; methylation; mRNA capping | 15q25.2 |
| FAM103A2P | - | 6q27 |
| FAM104A | - | 17q25.1 |
| FAM104B | - | Xp11.21 |
| FAM105A | - | 5p15.2 |
| FAM106CP | - | 17p11.2 |
| FAM107A | regulation of cell growth | 3p21.1 |
| FAM107B | - | 10p13 |
| FAM109A | retrograde transport, endosome to Golgi; endosome organization; receptor recycling | 12q24.12 |
| FAM109B | endosome organization; receptor recycling; retrograde transport, endosome to Golgi | 22q13.2 |
| FAM110A | - | 20p13 |
| FAM110B | - | 8q12.1 |
| FAM110C | - | 2p25.3 |
| FAM110D | - | 1p36.11 |
| FAM111A | - | 11q12.1 |
| FAM111B | - | 11q12.1 |
| FAM114A1 | - | 4p14 |
| FAM114A2 | - | 5q31-q33 |
| FAM115B | - | 7q35 |
| FAM117A | - | 17q21.33 |
| FAM117B | - | 2q33.2 |
| FAM118A | - | 22q13 |
| FAM118B | - | 11q24.2 |
| FAM120A | - | 9q22.31 |
| FAM120AOS | - | 9q22.31 |
| FAM120B | regulation of transcription, DNA-dependent; cell differentiation | 6q27 |
| FAM120C | - | Xp11.22 |
| FAM122A | - | 9q21.11 |
| FAM122B | - | Xq26.3 |
| FAM122C | - | Xq26.3 |
| FAM124A | - | 13q14.3 |
| FAM124B | - | 2q36.2 |
| FAM126A | signal transduction | 7p15.3 |
| FAM126B | - | 2q33.1 |
| FAM127A | - | Xq26 |
| FAM127B | - | Xq26.3 |
| FAM127C | - | Xq26.3 |
| FAM129A | positive regulation of translation; response to endoplasmic reticulum stress; response to stress; positive regulation of protein phosphorylation; negative regulation of protein phosphorylation | 1q25 |
| FAM129B | negative regulation of apoptotic process | 9q34.13 |
| FAM129C | - | 19p13.11 |
| FAM131A | - | 3q27.1 |
| FAM131B | - | 7q34 |
| FAM131C | - | 1p36.13 |
| FAM132A | - | 1p36.33 |
| FAM132B | - | 2q37.3 |
| FAM133A | - | Xq21.32 |
| FAM133B | - | 7q21.2 |
| FAM133CP | - | 10q21.1 |
| FAM133DP | - | 2q24.1 |
| FAM134A | - | 2q35 |
| FAM134B | sensory perception of pain | 5p15.1 |
| FAM134C | - | 17q21.2 |
| FAM135A | - | 6q13 |
| FAM135B | - | 8q24.23 |
| FAM136A | - | 2p13.3 |
| FAM136BP | - | 6p25.2 |
| FAM138F | - | 19p13.3 |
| FAM13A | small GTPase mediated signal transduction; signal transduction; regulation of small GTPase mediated signal transduction | 4q22.1 |
| FAM13A-AS1 | - | 4q22.1 |
| FAM13B | signal transduction; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction | 5q31 |
| FAM13C | - | 10q21.1 |
| FAM149A | - | 4q35.1 |
| FAM149B1 | - | 10q22.2 |
| FAM149B1P1 | - | 15q26.2 |
| FAM150B | - | 2p25.3 |
| FAM151A | - | - |
| FAM151B | - | 5q14.1 |
| FAM153A | - | 5q35.3 |
| FAM153B | - | 5q35.2 |
| FAM155A | - | 13q33.3 |
| FAM155A-IT1 | - | - |
| FAM155B | - | Xq13.1 |
| FAM156B | - | Xp11.22 |
| FAM159A | - | 1p32.3 |
| FAM159B | - | 5q12.3 |
| FAM160A1 | - | 4q31.3 |
| FAM160A2 | protein transport; lysosome organization; endosome organization; endosome to lysosome transport; early endosome to late endosome transport | 11p15.4 |
| FAM160B1 | - | 10q25.3 |
| FAM160B2 | - | 8p21.3 |
| FAM161A | response to stimulus; visual perception | 2p15 |
| FAM161B | - | 14q24.3 |
| FAM162A | - | 3q21.1 |
| FAM162B | - | 6q22.1 |
| FAM163A | - | 1q25.2 |
| FAM166A | - | 9q34.3 |
| FAM166B | - | 9p13.3 |
| FAM167A | - | 8p23-p22 |
| FAM167A-AS1 | - | 8p23.1 |
| FAM167B | - | 1p35.1 |
| FAM168A | - | 11q13.4 |
| FAM168B | - | 2q21.1 |
| FAM169A | - | 5q13.3 |
| FAM169B | - | 15q26.3 |
| FAM170A | - | 5q23.1 |
| FAM171A1 | - | 10p13 |
| FAM171A2 | - | 17q21.31 |
| FAM171B | - | 2q32.1 |
| FAM172A | - | 5q15 |
| FAM172BP | - | 3q12.3 |
| FAM173A | - | 16p13.3 |
| FAM173B | - | 5p15.2 |
| FAM174A | - | 5q21.1 |
| FAM174B | - | 15q26.1 |
| FAM175A | response to ionizing radiation; double-strand break repair; positive regulation of DNA repair; G2/M transition DNA damage checkpoint; chromatin modification | 4q21.23 |
| FAM175B | - | 10q26.13 |
| FAM177A1 | - | 14q13.2 |
| FAM177A1P1 | - | 4q23 |
| FAM177B | - | 1q41 |
| FAM178B | - | 2q11.2 |
| FAM179A | - | 2p23.2 |
| FAM179B | - | 14q21.2 |
| FAM180A | - | 7q33 |
| FAM180B | - | 11p11.2 |
| FAM181A | - | 14q32.12 |
| FAM181A-AS1 | - | 14q32.12 |
| FAM181B | - | 11q14.1 |
| FAM182A | - | 20p11.1 |
| FAM182B | - | 20p11.1 |
| FAM183A | - | 1p34.2 |
| FAM183BP | - | 7p14.1 |
| FAM183CP | - | 8p12 |
| FAM184A | - | 6q22.31 |
| FAM184B | - | 4p16 |
| FAM185A | - | 7q22.1 |
| FAM186A | - | 12q13.12 |
| FAM186B | - | 12q13.12 |
| FAM188A | apoptotic process | 10p13 |
| FAM188B | - | 7p14.3 |
| FAM188B2 | - | 3q25.1 |
| FAM189A1 | - | 15q13.1 |
| FAM189A2 | - | 9q21.11 |
| FAM189B | - | 1q21 |
| FAM192A | - | 16q13 |
| FAM192BP | - | 4q31.3 |
| FAM193A | - | 4p16.3 |
| FAM193B | - | 5q35.3 |
| FAM195A | - | 16p13.3 |
| FAM195B | - | 17q25.3 |
| FAM196A | - | 10q26.2 |
| FAM196B | - | 5q35.1 |
| FAM197Y1 | - | Yp11.2 |
| FAM197Y3 | - | Yp11.2 |
| FAM198A | - | 3p22.1 |
| FAM198B | - | 4q32.1 |
| FAM199X | - | Xq22.2 |
| FAM19A1 | - | 3p14.1 |
| FAM19A2 | - | 12q14.1 |
| FAM19A3 | - | 1p13.2 |
| FAM19A4 | - | 3p14.1 |
| FAM19A5 | - | 22q13.32 |
| FAM200A | - | 7q22.1 |
| FAM200B | - | 4p15.32 |
| FAM201A | - | 9p13.1 |
| FAM201B | - | 2q21.2 |
| FAM204A | - | 10q26.11 |
| FAM204BP | - | - |
| FAM204CP | - | - |
| FAM205A | - | 9p12 |
| FAM205BP | - | 9p13.2 |
| FAM205CP | - | 9p13.3 |
| FAM206A | glycine catabolic process | 9q31.3 |
| FAM206BP | - | 13q14.13 |
| FAM207A | - | 21q22.3 |
| FAM207BP | - | 13q11 |
| FAM208A | - | 3p14.3 |
| FAM208B | - | 10p15.1 |
| FAM209A | - | 20q13.31 |
| FAM209B | - | 20q13.31 |
| FAM20A | - | 17q24.2 |
| FAM20B | - | 1q25 |
| FAM20C | - | 7p22.3 |
| FAM210A | - | 18p11.21 |
| FAM210B | - | 20q13.2 |
| FAM212A | - | 3p21.31 |
| FAM212B | - | 1p13.2 |
| FAM212B-AS1 | - | - |
| FAM213A | regulation of osteoclast differentiation; oxidation-reduction process | 10q23.1 |
| FAM213B | fatty acid biosynthetic process; prostaglandin biosynthetic process | 1p36.32 |
| FAM214A | - | 15q21.2-q21.3 |
| FAM214B | - | 9p13.3 |
| FAM216A | - | 12q24.11 |
| FAM216B | - | 13q14.11 |
| FAM217A | - | 6p25.2 |
| FAM217B | - | 20q13.33 |
| FAM218A | - | 4q32.3 |
| FAM219A | - | 9p13.3 |
| FAM219B | - | 15q24.1 |
| FAM21A | retrograde transport, endosome to Golgi; transport | 10q11.23 |
| FAM21C | transport; retrograde transport, endosome to Golgi | 10q11.1 |
| FAM21D | retrograde transport, endosome to Golgi | 10q11.23 |
| FAM21EP | - | - |
| FAM220A | - | 7p22.1 |
| FAM221A | - | 7p15.3 |
| FAM222A | - | 12q24.11 |
| FAM222A-AS1 | - | 12q24.11 |
| FAM222B | - | 17q11.2 |
| FAM223B | - | Xq28 |
| FAM224A | - | Yq11.222 |
| FAM225A | - | 9q32 |
| FAM225B | - | 9q32 |
| FAM226B | - | Xq13.2 |
| FAM227A | - | 22q13.1 |
| FAM227B | - | 15q21.2 |
| FAM228A | - | 2p23.3 |
| FAM228B | - | 2p23.3 |
| FAM229A | - | 1p35.1 |
| FAM229B | - | 6q21 |
| FAM230A | - | 22q11.21 |
| FAM230B | - | 22q11.21 |
| FAM230C | - | - |
| FAM234A | - | 16p13.3 |
| FAM234B | - | 12p13.1 |
| FAM24B | - | 10q26.13 |
| FAM25E | - | 10q11.22 |
| FAM26E | - | 6q22.1 |
| FAM26F | - | 6q22.1 |
| FAM27A | - | 9q12 |
| FAM27B | - | 9q13 |
| FAM27E1 | - | 9p11.2 |
| FAM27E2 | - | 9p11.2 |
| FAM27E4 | - | 9p11.2 |
| FAM32A | - | 19pter-p13.3 |
| FAM32C | - | 10q22.2 |
| FAM35A | - | 10q23.2 |
| FAM35BP | - | 10q11.22 |
| FAM35CP | - | 14q31.3 |
| FAM35DP | - | 10q11.22 |
| FAM3A | - | Xq28 |
| FAM3B | insulin secretion; apoptotic process | 21q22.3 |
| FAM3C | multicellular organismal development | 7q31 |
| FAM3C2 | - | Xp22.11 |
| FAM3D | negative regulation of insulin secretion | 3p14.2 |
| FAM43A | - | 3q29 |
| FAM43B | - | 1p36.12 |
| FAM45A | - | 10q25 |
| FAM45BP | - | Xq26.1 |
| FAM46A | - | 6q14 |
| FAM46B | - | 1p36.11 |
| FAM46C | - | 1p12 |
| FAM47A | - | Xp21.1 |
| FAM47C | - | Xp21.1 |
| FAM47DP | - | Xp21.1 |
| FAM47E | - | 4q21.1 |
| FAM49A | - | 2p24.2 |
| FAM49B | - | 8q24.21 |
| FAM50A | spermatogenesis | Xq28 |
| FAM50B | - | 6p25.2 |
| FAM53A | - | 4p16.3 |
| FAM53B | - | 10q26.13 |
| FAM53C | - | 5q31 |
| FAM57A | - | 17p13.3 |
| FAM58A | regulation of cyclin-dependent protein kinase activity; regulation of transcription, DNA-dependent | Xq28 |
| FAM60A | - | 12p11 |
| FAM60BP | - | 18q11.2 |
| FAM60CP | - | 18q21.32 |
| FAM63A | - | 1q21.3 |
| FAM63B | - | 15q21.3 |
| FAM64A | - | 17p13.2 |
| FAM65A | - | 16q22.1 |
| FAM65B | multicellular organismal development; muscle organ development; cell differentiation | 6p22.3-p21.32 |
| FAM65C | - | 20q13.13 |
| FAM66A | - | 8p23.1 |
| FAM66B | - | 8p23.1 |
| FAM66D | - | 8p23.1 |
| FAM69A | - | 1p22.1 |
| FAM69B | - | 9q34.3 |
| FAM69C | - | 18q22.3 |
| FAM71A | - | 1q32.3 |
| FAM71B | - | 5q33.3 |
| FAM71C | - | 12q23.1 |
| FAM71D | - | 14q23.3 |
| FAM71E1 | - | 19q13.33 |
| FAM71E2 | - | 19q13.42 |
| FAM71F1 | - | 7q32.1 |
| FAM71F2 | - | 7q32.1 |
| FAM72A | - | 1q32.1 |
| FAM72D | - | 1q21.1 |
| FAM73A | - | 1p31.1 |
| FAM73B | - | 9q34.11 |
| FAM74A3 | - | 9p13.1 |
| FAM76A | - | 1p35.3 |
| FAM76B | - | 11q21 |
| FAM78A | - | 9q34 |
| FAM78B | - | 1q24.1 |
| FAM81A | - | 15q22.2 |
| FAM81B | - | 5q15 |
| FAM83A | - | 8q24.13 |
| FAM83B | - | 6p12.1 |
| FAM83C | - | 20q11.22 |
| FAM83D | cell division; mitosis; cell cycle | 20q11.22-q12 |
| FAM83E | - | 19q13.33 |
| FAM83F | - | 22q13.1 |
| FAM83G | - | 17p11.2 |
| FAM83H | biomineral tissue development | 8q24.3 |
| FAM83H-AS1 | - | 8q24.3 |
| FAM84A | - | 2p24.3 |
| FAM84B | - | 8q24.21 |
| FAM86B1 | - | 8p23.1 |
| FAM86B3P | - | 8p23.1 |
| FAM86C1 | - | 11q13.4 |
| FAM86C2P | - | 11q13.2 |
| FAM86DP | - | 3p12.3 |
| FAM86EP | - | 4p16.3 |
| FAM86FP | - | 12p13.31 |
| FAM86HP | - | 3q22.1 |
| FAM86JP | - | 3q21.2 |
| FAM86LP | - | 7p22.1 |
| FAM89A | - | 1q42.2 |
| FAM89B | - | 11q13 |
| FAM8A1 | - | 6p23 |
| FAM8A2P | - | 11q12.1 |
| FAM8A6P | - | - |
| FAM90A1 | - | 12p13.31 |
| FAM90A20P | - | 8p23.1 |
| FAM90A22P | - | 8p23.1 |
| FAM90A23P | - | 8p23.1 |
| FAM90A25P | - | 8p23.1 |
| FAM90A27P | - | 19q13.42 |
| FAM90A28P | - | 19q13.42 |
| FAM90A9P | - | 8p23.1 |
| FAM91A1 | - | 8q24.13 |
| FAM92A1 | - | 8q22.1 |
| FAM92A1P2 | - | 4q35.1 |
| FAM92B | - | 16q24.1 |
| FAM95A | - | 2q11.1 |
| FAM95B1 | - | 9p12 |
| FAM95C | - | 9p13.1 |
| FAM96A | chromosome segregation | 15q22.31 |
| FAM96AP2 | - | 1q42.13 |
| FAM96B | chromosome segregation | 16q22.1 |
| FAM98A | - | 2p22.3 |
| FAM98B | - | 15q14 |
| FAM98C | - | 19q13.2 |
| FAM99B | - | 11p15.5 |
| FAM9A | - | Xp22.32 |
| FAM9B | - | Xp22.32 |
| FAM9C | - | Xp22.2 |
| FAN1 | nucleotide-excision repair, DNA incision; nucleotide-excision repair; DNA repair; double-strand break repair via homologous recombination | 15q13.2-q13.3 |
| FANCA | female gonad development; DNA repair; protein complex assembly; male meiosis; regulation of cell proliferation; male gonad development | 16q24.3 |
| FANCB | DNA repair | Xp22.2 |
| FANCC | removal of superoxide radicals; germ cell development; protein complex assembly; nucleotide-excision repair; DNA repair; myeloid cell homeostasis | 9q22.3 |
| FANCD2 | cell cycle; response to gamma radiation; gamete generation; synapsis; DNA repair | 3p26 |
| FANCD2OS | - | 3p25.3 |
| FANCE | DNA repair | 6p22-p21 |
| FANCF | DNA repair | 11p15 |
| FANCG | spermatid development; response to radiation; mitochondrion organization; DNA repair; cell cycle checkpoint; ovarian follicle development | 9p13 |
| FANCI | cell cycle; DNA repair | 15q26.1 |
| FANCL | protein ubiquitination; DNA repair | 2p16.1 |
| FANCM | resolution of meiotic recombination intermediates; DNA repair; replication fork processing | 14q21.2 |
| FANK1 | - | 10q26.2 |
| FAP | endothelial cell migration; regulation of fibrinolysis; negative regulation of extracellular matrix disassembly; metabolic process; proteolysis | 2q23 |
| FAR1 | cellular lipid metabolic process; small molecule metabolic process; ether lipid biosynthetic process; lipid biosynthetic process; wax biosynthetic process | 11p15.2 |
| FAR1P1 | - | 13q31.3 |
| FAR2 | lipid biosynthetic process; small molecule metabolic process; cellular lipid metabolic process; ether lipid biosynthetic process | 12p11.22 |
| FAR2P1 | - | 2q21.1 |
| FAR2P2 | - | 2q21.1 |
| FARP1 | negative regulation of phosphatase activity; regulation of Rho protein signal transduction | 13q32.2 |
| FARP2 | axon guidance; neuron remodeling; Rac protein signal transduction; regulation of Rho protein signal transduction | 2q37.3 |
| FARS2 | tRNA processing; tRNA aminoacylation for protein translation; phenylalanyl-tRNA aminoacylation; gene expression; tRNA aminoacylation | 6p25.1 |
| FARSA | tRNA aminoacylation for protein translation; phenylalanyl-tRNA aminoacylation; gene expression | 19p13.2 |
| FARSB | gene expression; phenylalanyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; translation | 2q36.1 |
| FAS | spermatogenesis; activation-induced cell death of T cells; inflammatory cell apoptosis; transformed cell apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; anti-apoptosis; apoptotic process; protein complex assembly; renal system process; immunoglobulin production; response to hypoxia; regulation of myeloid cell differentiation; response to drug; ovulation cycle; regulation of apoptotic process; positive regulation of apoptotic process; response to peptide hormone stimulus; response to estrogen stimulus; negative thymic T cell selection; regulation of lymphocyte differentiation; signal transduction; spleen development; negative regulation of B cell activation; response to glucocorticoid stimulus; neuron apoptosis; response to growth factor stimulus; cellular response to mechanical stimulus; cellular response to lithium ion; cellular response to hyperoxia; response to cytokine stimulus; immune response; aging; induction of apoptosis by extracell | 10q24.1 |
| FAS-AS1 | - | 10q24.1 |
| FASLG | positive regulation of epidermal growth factor receptor signaling pathway; cellular response to stress; positive regulation of neuron apoptosis; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of apoptotic process; inflammatory cell apoptosis; retinal cell programmed cell death; endosomal lumen acidification; induction of necroptosis of activated-T cells; induction of necroptosis by extracellular signals; necrotic cell death; response to growth factor stimulus; cellular chloride ion homeostasis; negative regulation of angiogenesis; activation of pro-apoptotic gene products; induction of apoptosis via death domain receptors; induction of apoptosis by extracellular signals; positive regulation of cell proliferation; response to lipopolysaccharide; immune response; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; apoptotic process; cell-cell signaling; signal transduction | 1q23 |
| FASN | vitamin metabolic process; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; positive regulation of cellular metabolic process; triglyceride biosynthetic process; water-soluble vitamin metabolic process; fatty acid biosynthetic process; fatty acid metabolic process; energy reserve metabolic process; pantothenate metabolic process | 17q25 |
| FASTK | regulation of RNA splicing; protein phosphorylation; apoptotic process; induction of apoptosis by extracellular signals | 7q35 |
| FASTKD1 | cellular respiration | 2q31 |
| FASTKD2 | cellular respiration | 2q33.3 |
| FASTKD3 | cellular respiration | 5p15.31 |
| FASTKD5 | cellular respiration | 20p13 |
| FAT1 | homophilic cell adhesion; cell migration; cell-cell adhesion; anatomical structure morphogenesis; cell-cell signaling; establishment or maintenance of cell polarity; cell adhesion; actin filament organization | 4q35 |
| FAT1P1 | - | 20p12.2 |
| FAT2 | cell adhesion; homophilic cell adhesion; epithelial cell migration | 5q33.1 |
| FAT3 | multicellular organismal development; cell adhesion; homophilic cell adhesion | 11q14.3 |
| FAT4 | homophilic cell adhesion; cell adhesion | 4q28.1 |
| FATE1 | - | Xq28 |
| FAU | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation | 11q13 |
| FAUP1 | - | 18q22.3 |
| FAXC | - | 6q16.2 |
| FAXDC2 | - | 5q31-q32 |
| FBF1 | establishment of epithelial cell polarity; apical junction assembly | 17q25.1 |
| FBL | snoRNA metabolic process; tRNA processing; rRNA processing | 19q13.1 |
| FBLIM1 | cell adhesion; regulation of cell shape; cell junction assembly | 1p36.21 |
| FBLL1 | tRNA processing; rRNA processing | 5q34 |
| FBLN1 | embryo implantation; extracellular matrix organization; interspecies interaction between organisms | 22q13.31 |
| FBLN2 | - | 3p25.1 |
| FBLN5 | cell adhesion; cell-matrix adhesion; extracellular matrix organization; regulation of removal of superoxide radicals; elastic fiber assembly; protein localization at cell surface | 14q32.1 |
| FBLN7 | cell adhesion | 2q13 |
| FBN1 | skeletal system development; heart development; negative regulation of BMP signaling pathway by extracellular sequestering of BMP; negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta | 15q21.1 |
| FBN2 | anatomical structure morphogenesis; bone trabecula formation; positive regulation of osteoblast differentiation; negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta; positive regulation of bone mineralization; embryonic limb morphogenesis | 5q23-q31 |
| FBN3 | - | 19p13 |
| FBP1 | gluconeogenesis; small molecule metabolic process; negative regulation of glycolysis; negative regulation of Ras protein signal transduction; protein homotetramerization; cellular response to magnesium ion; cellular response to drug; cellular response to insulin stimulus; negative regulation of cell growth; dephosphorylation; regulation of gluconeogenesis; carbohydrate metabolic process; fructose metabolic process; fructose 6-phosphate metabolic process; glucose metabolic process | 9q22.3 |
| FBP2 | small molecule metabolic process; gluconeogenesis; glucose metabolic process; fructose metabolic process; carbohydrate metabolic process | 9q22.3 |
| FBRS | - | 16p11.2 |
| FBRSL1 | - | 12q24.33 |
| FBXL12 | ubiquitin-dependent protein catabolic process | 19p13.2 |
| FBXL13 | - | 7q22.1 |
| FBXL14 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 12p13.33 |
| FBXL15 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of BMP signaling pathway; bone mineralization; protein ubiquitination; dorsal/ventral pattern formation; G2/M transition of mitotic cell cycle | 10q24.32 |
| FBXL16 | - | 16p13.3 |
| FBXL17 | - | 5q21.3 |
| FBXL18 | - | 7p22.2 |
| FBXL19 | - | 16p11.2 |
| FBXL19-AS1 | - | 16p11.2 |
| FBXL2 | proteolysis; protein modification process; protein ubiquitination; interspecies interaction between organisms | 3p22.3 |
| FBXL20 | - | 17q12 |
| FBXL21 | protein ubiquitination; rhythmic process | 5q31 |
| FBXL22 | - | 15q22.31 |
| FBXL3 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; rhythmic process; regulation of circadian rhythm; protein ubiquitination | 13q22 |
| FBXL4 | ubiquitin-dependent protein catabolic process | 6q16.1-q16.3 |
| FBXL5 | protein ubiquitination; iron ion homeostasis; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 4p15.32 |
| FBXL6 | proteolysis; protein ubiquitination | 8q24.3 |
| FBXL7 | ubiquitin-dependent protein catabolic process; protein ubiquitination | 5p15.1 |
| FBXL8 | - | 16q22.1 |
| FBXO10 | protein ubiquitination | 9p13.2 |
| FBXO11 | protein ubiquitination; peptidyl-arginine N-methylation; sensory perception of sound; ubiquitin-dependent protein catabolic process; protein modification process | 2p16.3 |
| FBXO15 | - | 18q22.3 |
| FBXO16 | - | 8p21.1 |
| FBXO17 | protein catabolic process | 19q13.2 |
| FBXO18 | - | 10p15.1 |
| FBXO2 | regulation of protein ubiquitination; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; ER-associated protein catabolic process; protein modification process; protein catabolic process; protein ubiquitination; glycoprotein catabolic process; ubiquitin-dependent protein catabolic process; proteolysis | 1p36.22 |
| FBXO21 | protein ubiquitination; ubiquitin-dependent protein catabolic process | 12q24.22 |
| FBXO22 | positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein modification process; protein polyubiquitination; protein ubiquitination; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; ubiquitin-dependent protein catabolic process; nucleocytoplasmic transport; cellular response to starvation; regulation of myotube differentiation | 15q24.2 |
| FBXO24 | protein ubiquitination | 7q22 |
| FBXO25 | protein ubiquitination | 8p23.3 |
| FBXO27 | protein catabolic process | 19q13.2 |
| FBXO28 | - | 1q42.11 |
| FBXO3 | proteolysis; protein ubiquitination | 11p13 |
| FBXO30 | - | 6q24 |
| FBXO31 | response to DNA damage stimulus; cell cycle; cyclin catabolic process; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; mitotic cell cycle G1/S transition DNA damage checkpoint | 16q24.2 |
| FBXO32 | muscle atrophy | 8q24.13 |
| FBXO33 | - | 14q21.1 |
| FBXO34 | - | 14q22.3 |
| FBXO36 | - | 2q36.3 |
| FBXO36-IT1 | - | - |
| FBXO38 | - | 5q32 |
| FBXO39 | - | 17p13.1 |
| FBXO4 | protein polyubiquitination; positive regulation of protein ubiquitination; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; ubiquitin-dependent protein catabolic process; telomere maintenance | 5p12 |
| FBXO40 | muscle cell differentiation | 3q13.33 |
| FBXO41 | - | 2p13.2 |
| FBXO42 | - | 1p36.23-p36.11 |
| FBXO43 | meiosis | 8q22.2 |
| FBXO44 | protein catabolic process | 1p36.22 |
| FBXO45 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein ubiquitination; nervous system development; multicellular organismal development; response to DNA damage stimulus; proteasomal ubiquitin-dependent protein catabolic process | 3q29 |
| FBXO46 | - | 19q13.3 |
| FBXO47 | - | 17q12|17q12 |
| FBXO48 | - | 2p13.3 |
| FBXO5 | regulation of transcription involved in G1/S phase of mitotic cell cycle; M phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; mitotic cell cycle; inhibition of mitotic anaphase-promoting complex activity; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; spindle assembly; microtubule polymerization; regulation of meiosis; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; vesicle organization; regulation of mitotic cell cycle; mitotic metaphase/anaphase transition; spindle assembly involved in female meiosis I; oocyte maturation; mitotic metaphase | 6q25.2 |
| FBXO6 | protein catabolic process; response to unfolded protein; glycoprotein catabolic process; proteolysis; DNA repair; DNA damage checkpoint; ER-associated protein catabolic process; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 1p36.22 |
| FBXO7 | ubiquitin-dependent protein catabolic process; cell death; protein ubiquitination; regulation of protein stability | 22q12-q13 |
| FBXO8 | regulation of ARF protein signal transduction; ubiquitin-dependent protein catabolic process | 4q34.1 |
| FBXO9 | protein ubiquitination | 6p12.3-p11.2 |
| FBXW10 | - | 17p12 |
| FBXW11 | cell cycle; negative regulation of transcription, DNA-dependent; Wnt receptor signaling pathway; protein dephosphorylation; protein polyubiquitination; protein ubiquitination; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; protein destabilization; negative regulation of NF-kappaB import into nucleus; positive regulation of circadian rhythm; proteasomal ubiquitin-dependent protein catabolic process; positive regulation of proteolysis; positive regulation of transcription, DNA-dependent; rhythmic process | 5q35.1 |
| FBXW11P1 | - | 21q22.11 |
| FBXW12 | - | 3p21.31 |
| FBXW2 | protein modification process; proteolysis; protein ubiquitination | 9q34 |
| FBXW4 | Wnt receptor signaling pathway; embryonic limb morphogenesis; embryonic digit morphogenesis; multicellular organismal development; ubiquitin-dependent protein catabolic process; positive regulation of mesenchymal cell proliferation; limb development; cartilage development | 10q24 |
| FBXW4P1 | - | 22q11 |
| FBXW5 | protein ubiquitination; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; proteasomal ubiquitin-dependent protein catabolic process; centrosome duplication | 9q34.3 |
| FBXW7 | positive regulation of epidermal growth factor-activated receptor activity; negative regulation of triglyceride biosynthetic process; regulation of lipid storage; protein ubiquitination; sister chromatid cohesion; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; negative regulation of DNA endoreduplication; regulation of protein localization; cellular response to UV; interspecies interaction between organisms; response to DNA damage stimulus; vasculature development; negative regulation of Notch signaling pathway; protein stabilization; lipid homeostasis; positive regulation of ERK1 and ERK2 cascade; positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; negative regulation of hepatocyte proliferation; negative regulation of SREBP-mediated signaling pathway | 4q31.3 |
| FBXW8 | labyrinthine layer blood vessel development; spongiotrophoblast layer development | 12q24.22 |
| FBXW9 | - | 19p13.2 |
| FCAMR | - | 1q32.1 |
| FCAR | immune response | 19q13.42 |
| FCER1G | positive regulation of interleukin-10 production; positive regulation of interleukin-6 production; positive regulation of tumor necrosis factor production; positive regulation of mast cell cytokine production; negative regulation of mast cell apoptosis; antigen processing and presentation of exogenous peptide antigen via MHC class I; defense response to bacterium; positive regulation of mast cell degranulation; mast cell activation; positive regulation of phagocytosis; positive regulation of immune response; leukocyte migration; neutrophil chemotaxis; positive regulation of type IIa hypersensitivity; positive regulation of type III hypersensitivity; positive regulation of type I hypersensitivity; Fc receptor mediated stimulatory signaling pathway; phagocytosis, engulfment; cell surface receptor signaling pathway; blood coagulation; immunoglobulin mediated immune response; antigen processing and presentation of exogenous peptide antigen via MHC class II; platelet activation | 1q23 |
| FCER2 | positive regulation of humoral immune response mediated by circulating immunoglobulin; positive regulation of nitric-oxide synthase activity; positive regulation of killing of cells of other organism; positive regulation of nitric-oxide synthase biosynthetic process | 19p13.3 |
| FCF1 | rRNA processing | 14q24.3 |
| FCF1P1 | - | - |
| FCF1P7 | - | - |
| FCF1P8 | - | - |
| FCGBP | - | 19q13.1 |
| FCGR1A | signal transduction; antigen processing and presentation of exogenous peptide antigen via MHC class I; innate immune response; interferon-gamma-mediated signaling pathway; cytokine-mediated signaling pathway; immune response; phagocytosis, engulfment; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I | 1q21.2-q21.3 |
| FCGR2A | - | 1q23 |
| FCGR2B | immune response; signal transduction; interspecies interaction between organisms; regulation of immune response | 1q23 |
| FCGR2C | immune response | 1q23.3 |
| FCGR3A | immune response; regulation of immune response | 1q23 |
| FCGR3B | immune response | 1q23 |
| FCGRT | immune response; antigen processing and presentation; female pregnancy | 19q13.3 |
| FCHO1 | - | 19p13.11 |
| FCHO2 | - | 5q13.2 |
| FCHSD1 | - | 5q31.3 |
| FCHSD2 | - | 11q13.4 |
| FCMR | anti-apoptosis; cellular defense response | 1q32.1 |
| FCN1 | signal transduction; opsonization | 9q34 |
| FCN2 | complement activation, lectin pathway; signal transduction; opsonization | 9q34.3 |
| FCN3 | signal transduction; complement activation, lectin pathway | 1p36.11 |
| FCRL1 | - | 1q21-q22 |
| FCRL2 | cell-cell signaling | 1q21 |
| FCRL3 | - | 1q21-q22 |
| FCRL4 | - | 1q21 |
| FCRL5 | - | 1q21 |
| FCRL6 | - | 1q23.2 |
| FCRLA | cell differentiation | 1q23.3 |
| FCRLB | - | 1q23.3 |
| FDCSP | - | 4q13|4q13 |
| FDFT1 | cholesterol biosynthetic process; farnesyl diphosphate metabolic process; small molecule metabolic process; cellular lipid metabolic process; isoprenoid biosynthetic process; steroid biosynthetic process | 8p23.1-p22 |
| FDPS | cholesterol biosynthetic process; isoprenoid biosynthetic process; small molecule metabolic process; interspecies interaction between organisms | 1q22 |
| FDPSP1 | - | 1q31 |
| FDPSP2 | - | 7q11.23 |
| FDPSP5 | - | Xp11.3 |
| FDPSP7 | - | 7q11.23 |
| FDX1 | regulation of catalytic activity; cellular response to leptin stimulus; positive regulation of oxidoreductase activity; NADPH oxidation; cellular response to organic cyclic compound; response to gonadotropin stimulus; adrenal gland development; electron transport chain; transport; generation of precursor metabolites and energy; cellular response to epinephrine stimulus | 11q22 |
| FDX1L | transport; electron transport chain | 19p13.2 |
| FDXACB1 | tRNA processing; phenylalanyl-tRNA aminoacylation | 11q23.1 |
| FDXR | electron transport chain; cholesterol metabolic process; transport; oxidation-reduction process; NADPH oxidation; steroid biosynthetic process; generation of precursor metabolites and energy | 17q25.1 |
| FECH | porphyrin-containing compound metabolic process; protoporphyrinogen IX metabolic process; small molecule metabolic process; response to light stimulus; heme biosynthetic process; generation of precursor metabolites and energy | 18q21.3 |
| FEM1A | negative regulation of inflammatory response; regulation of ubiquitin-protein ligase activity; protein ubiquitination | 19p13.3 |
| FEM1AP2 | - | 18p11.21 |
| FEM1AP3 | - | 6q21 |
| FEM1B | regulation of DNA damage checkpoint; epithelial cell maturation involved in prostate gland development; branching involved in prostate gland morphogenesis; regulation of ubiquitin-protein ligase activity; induction of apoptosis; protein ubiquitination; regulation of apoptotic process | 15q22 |
| FEM1C | - | 5q22 |
| FEN1 | telomere maintenance; telomere maintenance via recombination; S phase of mitotic cell cycle; mitotic cell cycle; DNA repair; DNA strand elongation involved in DNA replication; DNA replication; phosphatidylinositol-mediated signaling; DNA replication, removal of RNA primer; telomere maintenance via semi-conservative replication; UV protection; double-strand break repair; base-excision repair | 11q12 |
| FEN1P1 | - | 1p22.2 |
| FENDRR | - | 16q24.1 |
| FER | regulation of lamellipodium assembly; positive regulation of cell proliferation; positive regulation of NF-kappaB transcription factor activity; platelet-derived growth factor receptor signaling pathway; protein autophosphorylation; regulation of epidermal growth factor receptor signaling pathway; intracellular signal transduction; negative regulation of mast cell activation involved in immune response; positive regulation of actin filament polymerization; microtubule cytoskeleton organization; protein phosphorylation; chemotaxis; cell adhesion; positive regulation of cell migration; peptidyl-tyrosine phosphorylation | 5q21 |
| FER1L4 | - | 20q11.22 |
| FER1L5 | - | 2q11.2 |
| FER1L6 | - | 8q24.1 |
| FER1L6-AS2 | - | 8q24.13 |
| FERMT1 | establishment of epithelial cell polarity; keratinocyte migration; keratinocyte proliferation; cell adhesion | 20p12.3 |
| FERMT2 | cell adhesion; regulation of cell shape; cell junction assembly; actin cytoskeleton organization | 14q22.1 |
| FERMT3 | regulation of cell-cell adhesion mediated by integrin; cell adhesion; leukocyte cell-cell adhesion; integrin activation; platelet aggregation | 11q13.1 |
| FERP1 | - | Xq25 |
| FES | protein phosphorylation; positive regulation of actin cytoskeleton reorganization; regulation of cell motility; regulation of vesicle-mediated transport; protein autophosphorylation; positive regulation of myeloid cell differentiation; regulation of cell differentiation; regulation of mast cell degranulation; regulation of cell proliferation; positive regulation of microtubule polymerization; regulation of cell adhesion; peptidyl-tyrosine phosphorylation; positive regulation of neuron projection development; regulation of cell shape; cell proliferation; axon guidance; multicellular organismal development | 15q26.1 |
| FETUB | - | 3q27 |
| FEV | cell differentiation; positive regulation of transcription, DNA-dependent; nervous system development; multicellular organismal development; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 2q36 |
| FEZ1 | transport; positive regulation of neuron projection development; positive regulation of neuron differentiation; establishment of mitochondrion localization; cellular response to growth factor stimulus; axon guidance; nervous system development; cell adhesion | 11q24.2 |
| FEZ2 | signal transduction; nervous system development; axon guidance | 2p21 |
| FEZF1 | olfactory bulb development; negative regulation of transcription from RNA polymerase II promoter; neuron migration; multicellular organismal development; nervous system development; axon guidance; negative regulation of cell proliferation; telencephalon development; forebrain anterior/posterior pattern specification; cell differentiation; positive regulation of neuron differentiation; positive regulation of transcription, DNA-dependent | 7q31.32 |
| FEZF1-AS1 | - | 7q31.32 |
| FEZF2 | dendrite development; positive regulation of transcription, DNA-dependent; positive regulation of neuron differentiation; cell differentiation; forebrain anterior/posterior pattern specification; dentate gyrus development; telencephalon development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cell proliferation; locomotory behavior; multicellular organismal development; nervous system development; axon guidance; axonal fasciculation | 3p14.2 |
| FFAR4 | - | 10q23.33 |
| FGA | blood coagulation; response to calcium ion; protein polymerization; platelet degranulation; signal transduction; platelet activation | 4q28 |
| FGB | platelet degranulation; response to calcium ion; protein polymerization; signal transduction; blood coagulation; platelet activation | 4q28 |
| FGD1 | apoptotic process; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; filopodium assembly; regulation of Cdc42 GTPase activity; regulation of Rho protein signal transduction; actin cytoskeleton organization; organ morphogenesis; induction of apoptosis by extracellular signals; regulation of cell shape; multicellular organismal development; small GTPase mediated signal transduction; signal transduction; cytoskeleton organization | Xp11.21 |
| FGD2 | filopodium assembly; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of Cdc42 GTPase activity; regulation of Rho protein signal transduction; induction of apoptosis by extracellular signals; regulation of cell shape; actin cytoskeleton organization; apoptotic process; cytoskeleton organization; small GTPase mediated signal transduction | 6p21.2 |
| FGD3 | actin cytoskeleton organization; small GTPase mediated signal transduction; regulation of cell shape; cytoskeleton organization; apoptotic process; induction of apoptosis by extracellular signals; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; filopodium assembly; regulation of Cdc42 GTPase activity; regulation of small GTPase mediated signal transduction | - |
| FGD4 | nerve growth factor receptor signaling pathway; activation of JUN kinase activity; cytoskeleton organization; small GTPase mediated signal transduction; regulation of cell shape; induction of apoptosis by extracellular signals; microspike assembly; lamellipodium assembly; apoptotic process; actin cytoskeleton organization; regulation of Rho protein signal transduction; regulation of Cdc42 GTPase activity; filopodium assembly; regulation of small GTPase mediated signal transduction | 12p11.21 |
| FGD5 | filopodium assembly; regulation of Cdc42 GTPase activity; regulation of Rho protein signal transduction; cytoskeleton organization; regulation of cell shape; actin cytoskeleton organization | 3p25.1 |
| FGD5-AS1 | - | - |
| FGD5P1 | - | 3p25.1 |
| FGD6 | actin cytoskeleton organization; filopodium assembly; regulation of Cdc42 GTPase activity; regulation of Rho protein signal transduction; regulation of cell shape; cytoskeleton organization | 12q22 |
| FGF1 | signal transduction; positive regulation of cell migration; cellular response to heat; positive regulation of cholesterol biosynthetic process; lung development; positive regulation of angiogenesis; positive regulation of cell adhesion; positive regulation of transcription from RNA polymerase II promoter; positive regulation of epithelial cell proliferation; positive regulation of cell division; branch elongation involved in ureteric bud branching; mesonephric epithelium development; cell differentiation; positive regulation of intracellular protein kinase cascade; anatomical structure morphogenesis; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; positive regulation of cell proliferation; nervous system development; multicellular organismal development; positive regulation of protein phosphorylation; organ induction | 5q31 |
| FGF10-AS1 | - | 5p12 |
| FGF11 | signal transduction; cell-cell signaling; nervous system development | 17p13.1 |
| FGF12 | nervous system development; cell-cell signaling; JNK cascade; signal transduction; heart development; fibroblast growth factor receptor signaling pathway | 3q28 |
| FGF12-AS3 | - | - |
| FGF13 | MAPK cascade; positive regulation of protein phosphorylation; nervous system development; cell-cell signaling; signal transduction | Xq26.3 |
| FGF13-AS1 | - | Xq26.3 |
| FGF14 | nervous system development; fibroblast growth factor receptor signaling pathway; signal transduction; cell death; JNK cascade; cell-cell signaling | 13q34 |
| FGF14-AS2 | - | 13q33.1 |
| FGF17 | positive regulation of cell proliferation; fibroblast growth factor receptor signaling pathway; signal transduction; cell-cell signaling; multicellular organismal development; nervous system development; insulin receptor signaling pathway | 8p21 |
| FGF18 | angiogenesis; positive regulation of ERK1 and ERK2 cascade; positive regulation of chondrocyte differentiation; positive regulation of vascular endothelial growth factor receptor signaling pathway; lung development; anatomical structure morphogenesis; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; positive regulation of cell proliferation; cell-cell signaling; signal transduction; chondrocyte development; endochondral ossification; intramembranous ossification; ossification | 5q34 |
| FGF19 | insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; positive regulation of glucose import; positive regulation of JNK cascade; positive regulation of ERK1 and ERK2 cascade; positive regulation of cell proliferation; heart development; nervous system development; neural crest cell migration; negative regulation of bile acid biosynthetic process | 11q13.1 |
| FGF2 | positive regulation of blood vessel endothelial cell migration; negative regulation of blood vessel endothelial cell migration; positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of osteoblast differentiation; regulation of angiogenesis; positive regulation of angiogenesis; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; regulation of retinal cell programmed cell death; positive regulation of cell fate specification; embryonic morphogenesis; response to axon injury; stem cell development; release of sequestered calcium ion into cytosol; regulation of cell cycle; positive regulation of cell division; positive regulation of cardiac muscle cell proliferation; corticotropin hormone secreting cell differentiation; thyroid-stimulating hormone-secreting cell differentiation; negative regulation of cell death; chondroblast differentiation; mammary gland epithe | 4q26 |
| FGF20 | signal transduction; cell-cell signaling; positive regulation of cell proliferation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; cell differentiation; regulation of cardiac muscle cell proliferation; inner ear receptor cell differentiation; positive regulation of ERK1 and ERK2 cascade | 8p22 |
| FGF21 | cell-cell signaling; signal transduction; positive regulation of cell proliferation; positive regulation of glucose import; positive regulation of ERK1 and ERK2 cascade; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway | 19q13.33 |
| FGF22 | cell differentiation; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway | 19p13.3 |
| FGF23 | phosphate-containing compound metabolic process; cell differentiation; positive regulation of transcription, DNA-dependent; negative regulation of hormone secretion; positive regulation of vitamin D 24-hydroxylase activity; regulation of phosphate transport; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; negative regulation of osteoblast differentiation; vitamin D catabolic process; cellular phosphate ion homeostasis; negative regulation of bone mineralization; positive regulation of ERK1 and ERK2 cascade; phosphate ion homeostasis; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway | 12p13.3 |
| FGF3 | positive regulation of cell division; negative regulation of cardiac muscle tissue development; semicircular canal morphogenesis; thymus development; tail morphogenesis; cell differentiation; otic vesicle formation; insulin receptor signaling pathway; positive regulation of cell proliferation; multicellular organismal development; cell-cell signaling; signal transduction; fibroblast growth factor receptor signaling pathway; organ induction; anatomical structure morphogenesis | 11q13 |
| FGF5 | fibroblast growth factor receptor signaling pathway; positive regulation of cell division; signal transduction involved in regulation of gene expression; glial cell differentiation; insulin receptor signaling pathway; positive regulation of cell proliferation; cell proliferation; nervous system development; cell-cell signaling | 4q21 |
| FGF6 | cartilage condensation; positive regulation of cell division; myoblast differentiation; cell differentiation; insulin receptor signaling pathway; positive regulation of cell proliferation; cell proliferation; multicellular organismal development; cell-cell signaling; signal transduction; fibroblast growth factor receptor signaling pathway; angiogenesis | 12p13 |
| FGF7 | surfactant homeostasis; positive regulation of epithelial cell proliferation; positive regulation of peptidyl-tyrosine phosphorylation; positive chemotaxis; positive regulation of keratinocyte migration; positive regulation of cell division; branching involved in salivary gland morphogenesis; positive regulation of epithelial cell proliferation involved in lung morphogenesis; regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling; secretion by lung epithelial cell involved in lung growth; protein localization at cell surface; ovarian follicle development; phosphatidylcholine biosynthetic process; signal transduction; positive regulation of cell proliferation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; epidermis development; phospholipid biosynthetic process; response to wounding; mesenchymal cell proliferation; positive regulation of keratinocyte proliferation; lung development; hair follicle morphogenesis; actin cytos | 15q21.2 |
| FGF7P1 | - | 18p11.21 |
| FGF8 | mesonephros development; dopaminergic neuron differentiation; neuroepithelial cell differentiation; bone development; negative regulation of cardiac muscle tissue development; positive regulation of cell division; anatomical structure morphogenesis; fibroblast growth factor receptor signaling pathway; gonad development; insulin receptor signaling pathway; positive regulation of cell proliferation; gastrulation; multicellular organismal development; outflow tract septum morphogenesis; metanephros development; odontogenesis | 10q24 |
| FGF9 | inner ear morphogenesis; positive regulation of MAPK cascade; positive regulation of smoothened signaling pathway; regulation of timing of cell differentiation; embryonic digestive tract development; embryonic skeletal system development; positive regulation of epithelial cell proliferation; positive regulation of cell division; positive regulation of cardiac muscle cell proliferation; positive regulation of canonical Wnt receptor signaling pathway; lung-associated mesenchyme development; embryonic limb morphogenesis; angiogenesis; osteoblast differentiation; positive regulation of mesenchymal cell proliferation; chondrocyte differentiation; protein import into nucleus; signal transduction; cell-cell signaling; positive regulation of vascular endothelial growth factor receptor signaling pathway; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; male gonad development; positive regulation of gene expression; negative regulation of Wnt receptor signaling pathway; male sex | 13q11-q12 |
| FGFBP1 | negative regulation of cell proliferation; positive regulation of fibroblast growth factor receptor signaling pathway; signal transduction; positive regulation of cell proliferation; cell-cell signaling | 4p15.32 |
| FGFBP2 | - | 4p16 |
| FGFBP3 | positive regulation of vascular permeability; positive regulation of fibroblast growth factor receptor signaling pathway | 10q23.32 |
| FGFR1 | positive regulation of phospholipase C activity; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; positive regulation of cell proliferation; axon guidance; protein phosphorylation; regulation of transcription, DNA-dependent; neuron migration; skeletal system development; MAPK cascade; positive regulation of phospholipase activity; cell migration; peptidyl-tyrosine phosphorylation; chordate embryonic development; positive regulation of MAP kinase activity; positive regulation of MAPK cascade; regulation of cell differentiation; positive regulation of neuron differentiation; protein autophosphorylation; phosphatidylinositol-mediated signaling; skeletal system morphogenesis; positive regulation of phosphatidylinositol 3-kinase cascade | 8p12 |
| FGFR1OP | positive regulation of cell migration; microtubule anchoring; negative regulation of protein tyrosine kinase activity; G2/M transition of mitotic cell cycle; positive regulation of cell growth; negative regulation of protein kinase activity; mitotic cell cycle; positive regulation of cell proliferation | 6q27 |
| FGFR1OP2 | response to wounding | 12p11.23 |
| FGFR2 | lung development; regulation of osteoblast proliferation; bone mineralization; positive regulation of Wnt receptor signaling pathway; gland morphogenesis; pyramidal neuron development; ventricular zone neuroblast division; orbitofrontal cortex development; peptidyl-tyrosine phosphorylation; morphogenesis of embryonic epithelium; epithelial cell differentiation; midbrain development; otic vesicle formation; hair follicle morphogenesis; lacrimal gland development; organ growth; fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow; multicellular organism growth; fibroblast growth factor receptor signaling pathway involved in hemopoiesis; axonogenesis; negative regulation of transcription from RNA polymerase II promoter; angiogenesis; ureteric bud development; in utero embryonic development; positive regulation of mesenchymal cell proliferation; outflow tract septum morphogenesis; membranous septum morphogenesis; apoptotic process; cell-cell signa | 10q26 |
| FGFR3 | MAPK cascade; skeletal system development; endochondral ossification; chondrocyte differentiation; positive regulation of phosphatidylinositol 3-kinase activity; bone maturation; positive regulation of ERK1 and ERK2 cascade; bone morphogenesis; negative regulation of developmental growth; protein autophosphorylation; endochondral bone growth; positive regulation of MAPK cascade; regulation of apoptotic process; positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of tyrosine phosphorylation of Stat1 protein; chondrocyte proliferation; peptidyl-tyrosine phosphorylation; positive regulation of phospholipase activity; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; positive regulation of cell proliferation; JAK-STAT cascade | 4p16.3 |
| FGFR3P1 | - | 6p21.33 |
| FGFR3P5 | - | - |
| FGFR3P6 | - | - |
| FGFR4 | positive regulation of cell proliferation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; regulation of extracellular matrix disassembly; cell migration; peptidyl-tyrosine phosphorylation; regulation of lipid metabolic process; positive regulation of proteolysis; protein autophosphorylation; positive regulation of metalloenzyme activity; phosphate ion homeostasis; positive regulation of ERK1 and ERK2 cascade; regulation of bile acid biosynthetic process; regulation of cholesterol homeostasis; positive regulation of DNA biosynthetic process; glucose homeostasis | 5q35.1-qter |
| FGFRL1 | fibroblast growth factor receptor signaling pathway; heart valve morphogenesis; negative regulation of cell proliferation; protein phosphorylation; skeletal system development; regulation of cell growth; diaphragm development; ventricular septum morphogenesis | 4p16 |
| FGG | platelet activation; response to calcium ion; protein polymerization; blood coagulation; signal transduction; platelet degranulation | 4q28 |
| FGGY | cell death; neuron homeostasis; carbohydrate metabolic process | 1p32.1 |
| FGL1 | signal transduction | 8p22 |
| FGL2 | signal transduction | 7q11.23 |
| FGR | positive regulation of phosphatidylinositol 3-kinase activity; defense response to Gram-positive bacterium; regulation of phagocytosis; positive regulation of cytokine secretion; protein autophosphorylation; regulation of protein kinase activity; regulation of innate immune response; positive regulation of mast cell degranulation; peptidyl-tyrosine phosphorylation; immune response-regulating cell surface receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase cascade; response to virus; regulation of cell shape; blood coagulation; integrin-mediated signaling pathway; protein phosphorylation; positive regulation of cell migration | 1p36.2-p36.1 |
| FH | tricarboxylic acid cycle; fumarate metabolic process; malate metabolic process; small molecule metabolic process; homeostasis of number of cells within a tissue | 1q42.1 |
| FHAD1 | - | 1p36.21 |
| FHDC1 | actin cytoskeleton organization; cellular component organization | 4q31.3 |
| FHIT | DNA replication; diadenosine triphosphate catabolic process; nucleotide metabolic process | 3p14.2 |
| FHL1 | multicellular organismal development; muscle organ development; organ morphogenesis; negative regulation of G2/M transition of mitotic cell cycle; cell differentiation; negative regulation of cell growth; negative regulation of G1/S transition of mitotic cell cycle | Xq26 |
| FHL2 | heart trabecula formation; ventricular cardiac muscle cell development; atrial cardiac muscle cell development; positive regulation of transcription, DNA-dependent; small molecule metabolic process; negative regulation of apoptotic process; androgen receptor signaling pathway; response to hormone stimulus; osteoblast differentiation; negative regulation of transcription from RNA polymerase II promoter; cellular lipid metabolic process | 2q12.2 |
| FHL3 | muscle organ development; actin cytoskeleton organization | 1p34 |
| FHL5 | - | 6q16.1-q16.3 |
| FHOD1 | positive regulation of transcription from RNA polymerase II promoter; actin cytoskeleton organization; cellular component organization; positive regulation of stress fiber assembly | 16q22 |
| FHOD3 | cellular component organization; actin cytoskeleton organization | 18q12 |
| FIBCD1 | signal transduction | 9q34.12 |
| FIBIN | - | 11p14.2 |
| FIBP | fibroblast growth factor receptor signaling pathway | 11q13.1 |
| FICD | negative regulation of Rho GTPase activity; protein adenylylation | 12q24.1 |
| FIG4 | locomotory behavior; phosphatidylinositol metabolic process; pigmentation; cell death; positive regulation of neuron projection development; neuron development; vacuole organization | 6q21 |
| FIGF | positive regulation of interleukin-6 production; response to interleukin-1; positive regulation of mast cell chemotaxis; positive regulation of cell division; induction of positive chemotaxis; positive chemotaxis; vascular endothelial growth factor receptor signaling pathway; regulation of vascular endothelial growth factor receptor signaling pathway; cell differentiation; positive regulation of cell proliferation; blood coagulation; multicellular organismal development; platelet degranulation; response to hypoxia; platelet activation; angiogenesis | Xp22.31 |
| FIGLA | oogenesis; cell differentiation; multicellular organismal development; regulation of transcription, DNA-dependent; oocyte development | 2p13.3 |
| FIGN | locomotory behavior | 2q24.3 |
| FIGNL1 | regulation of cell cycle; ATP metabolic process; osteoblast proliferation; osteoblast differentiation; negative regulation of apoptotic process | 7p12.1 |
| FIGNL2 | - | 12q13.13 |
| FILIP1 | - | 6q14.1 |
| FILIP1L | - | 3q12.1 |
| FIP1L1 | mRNA processing | 4q12 |
| FIRRE | - | Xq26.2 |
| FIS1 | positive regulation of intrinsic apoptotic signaling pathway; reduction of endoplasmic reticulum calcium ion concentration; peroxisome fission; elevation of cytosolic calcium ion concentration; apoptotic process; mitochondrial fission; release of cytochrome c from mitochondria; elevation of mitochondrial calcium ion concentration; mitochondrial fragmentation involved in apoptosis; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; calcium-mediated signaling using intracellular calcium source; mitochondrion degradation | 7q22.1 |
| FITM1 | positive regulation of sequestering of triglyceride; lipid particle organization | 14q12 |
| FITM2 | cellular triglyceride homeostasis; lipid particle organization; regulation of triglyceride biosynthetic process; regulation of cell morphogenesis; positive regulation of sequestering of triglyceride; cytoskeleton organization | 20q13.12 |
| FIZ1 | regulation of transcription, DNA-dependent | 19q13.42 |
| FJX1 | - | 11p13 |
| FKBP10 | peptidyl-proline modification; protein folding; protein peptidyl-prolyl isomerization | 17q21.2 |
| FKBP11 | protein peptidyl-prolyl isomerization; protein folding; peptidyl-proline modification | 12q13.12 |
| FKBP14 | peptidyl-proline modification; endoplasmic reticulum unfolded protein response; activation of signaling protein activity involved in unfolded protein response; protein folding; protein peptidyl-prolyl isomerization | 7p14.3 |
| FKBP15 | transport; protein folding; negative regulation of phosphatase activity; endocytosis | 9q32 |
| FKBP1A | regulation of ryanodine-sensitive calcium-release channel activity; regulation of activin receptor signaling pathway; beta-amyloid formation; protein refolding; T cell activation; positive regulation of I-kappaB kinase/NF-kappaB cascade; fibril organization; regulation of immune response; ventricular cardiac muscle tissue morphogenesis; heart trabecula formation; protein maturation by protein folding; positive regulation of protein binding; negative regulation of protein phosphatase type 2B activity; protein peptidyl-prolyl isomerization; heart morphogenesis; protein folding; 'de novo' protein folding; signal transduction; SMAD protein complex assembly; peptidyl-proline modification; positive regulation of protein ubiquitination | 20p13 |
| FKBP1A-SDCBP2 | - | 20p13 |
| FKBP1B | neuronal action potential propagation; regulation of ryanodine-sensitive calcium-release channel activity; response to redox state; T cell proliferation; protein refolding; negative regulation of protein phosphatase type 2B activity; regulation of calcium ion transport via store-operated calcium channel activity; insulin secretion; protein maturation by protein folding; peptidyl-proline modification; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; negative regulation of heart rate; response to glucose stimulus; smooth muscle contraction; muscle contraction; 'de novo' protein folding; protein peptidyl-prolyl isomerization | 2p23.3 |
| FKBP1C | protein folding | 6q12 |
| FKBP2 | protein peptidyl-prolyl isomerization; protein folding; peptidyl-proline modification | 11q13.1-q13.3 |
| FKBP3 | protein peptidyl-prolyl isomerization; protein folding; peptidyl-proline modification | 14q21.2 |
| FKBP4 | copper ion transport; male sex differentiation; protein complex localization; negative regulation of microtubule polymerization or depolymerization; prostate gland development; androgen receptor signaling pathway; peptidyl-proline modification; negative regulation of neuron projection development; embryo implantation; steroid hormone receptor complex assembly; protein folding; protein peptidyl-prolyl isomerization | 12p13.33 |
| FKBP4P1 | - | 4q26 |
| FKBP5 | peptidyl-proline modification; protein peptidyl-prolyl isomerization; protein folding | 6p21.31 |
| FKBP6 | pachytene; protein peptidyl-prolyl isomerization; protein folding; spermatogenesis; peptidyl-proline modification | 7q11.23 |
| FKBP7 | protein folding; peptidyl-proline modification; protein peptidyl-prolyl isomerization | 2q31.2 |
| FKBP8 | interspecies interaction between organisms; intracellular signal transduction; peptidyl-proline modification; apoptotic process; protein folding; protein peptidyl-prolyl isomerization | 19p12 |
| FKBP9 | peptidyl-proline modification; protein folding; protein peptidyl-prolyl isomerization | 7p11.1 |
| FKBP9P1 | - | 7p11.1 |
| FKBPL | protein peptidyl-prolyl isomerization; response to radiation; peptidyl-proline modification | 6p21.3 |
| FKRP | protein processing; glycoprotein biosynthetic process | 19q13.32 |
| FKSG2 | - | 8p11.2 |
| FKSG29 | - | 13q32.3 |
| FKSG49 | - | 5q13.3 |
| FKTN | regulation of protein glycosylation; negative regulation of JNK cascade; negative regulation of cell proliferation; muscle organ development; nervous system development | 9q31-q33 |
| FLAD1 | vitamin metabolic process; FAD biosynthetic process; small molecule metabolic process; Mo-molybdopterin cofactor biosynthetic process; water-soluble vitamin metabolic process; riboflavin metabolic process | 1q21.3 |
| FLCN | regulation of protein phosphorylation | 17p11.2 |
| FLG | keratinocyte differentiation; multicellular organismal development | 1q21.3 |
| FLG-AS1 | - | 1q21.3 |
| FLG2 | - | 1q21.3 |
| FLI1 | regulation of transcription, DNA-dependent; organ morphogenesis; hemostasis | 11q24.1-q24.3 |
| FLII | regulation of transcription, DNA-dependent; muscle contraction; multicellular organismal development | 17p11.2 |
| FLJ00290 | - | 8p23.3 |
| FLJ10038 | - | 15q21.2 |
| FLJ10489 | - | 8q22.3 |
| FLJ11292 | - | 5q14.3 |
| FLJ11710 | - | 17q23.2 |
| FLJ12120 | - | 17p13.3 |
| FLJ12825 | - | 12q13.13 |
| FLJ13224 | - | 12p11.21 |
| FLJ13744 | - | 6q14 |
| FLJ13773 | - | - |
| FLJ16171 | - | 5q35.2 |
| FLJ16734 | - | 7q36.2 |
| FLJ16779 | - | 20q13.33 |
| FLJ20021 | - | 4q24 |
| FLJ20464 | - | 22q12.2 |
| FLJ20712 | - | 7p14.3 |
| FLJ21408 | - | 16p12.1 |
| FLJ22447 | - | 14q23.1 |
| FLJ22763 | - | 3q13.13 |
| FLJ23867 | - | 1q25.2 |
| FLJ25694 | - | 13q21.31 |
| FLJ25715 | - | 18q23 |
| FLJ25917 | - | Xp11.3 |
| FLJ26245 | - | 16p11.1 |
| FLJ26850 | - | 19q13.33 |
| FLJ27255 | - | 6q25.3 |
| FLJ27354 | - | 1p22.2 |
| FLJ30064 | - | 7q21.3 |
| FLJ31104 | - | 5q11.2 |
| FLJ31662 | - | 1p21.3 |
| FLJ31715 | - | 3p22.1 |
| FLJ32154 | - | 20q13.33 |
| FLJ32255 | - | 5p12 |
| FLJ32790 | - | 16p13.13 |
| FLJ33360 | - | 5p15.31 |
| FLJ33534 | - | 2p25.1 |
| FLJ33544 | - | 20p12.3 |
| FLJ34223 | - | 18p11.22 |
| FLJ34503 | - | 6q21 |
| FLJ34521 | - | 11q24.3 |
| FLJ35816 | - | 4p16.3 |
| FLJ35934 | - | 17p11.2 |
| FLJ36000 | - | 17p11.2 |
| FLJ36840 | - | - |
| FLJ36848 | - | 2p15 |
| FLJ37035 | - | 10q26.13 |
| FLJ37201 | - | 10q23.31 |
| FLJ37453 | - | 1p36.21 |
| FLJ37644 | - | 17q24.3 |
| FLJ37786 | - | 1q21 |
| FLJ38122 | - | 6q27 |
| FLJ38379 | - | 2q37.3 |
| FLJ38717 | - | 6p21.1 |
| FLJ38723 | - | 15q22.2 |
| FLJ38773 | - | 20q11.22 |
| FLJ39632 | - | 14q11.2 |
| FLJ40194 | - | 17q21.32 |
| FLJ40288 | - | 7q32.3 |
| FLJ40448 | - | 16q24.3 |
| FLJ40712 | - | 2q37.3 |
| FLJ41130 | - | 4p16.3 |
| FLJ41170 | - | 14q32.31 |
| FLJ41200 | - | 9p23 |
| FLJ41278 | - | 12q14.3 |
| FLJ41327 | - | 2q37.3 |
| FLJ41455 | - | 9q12 |
| FLJ41941 | - | 22q11.21 |
| FLJ42102 | - | 11q13.4 |
| FLJ42200 | - | 21q21.2 |
| FLJ42220 | - | 14q13.3 |
| FLJ42351 | - | 2q13 |
| FLJ42393 | - | 3q27.3 |
| FLJ42627 | - | 16p13.3 |
| FLJ43315 | - | - |
| FLJ43585 | - | 1q31.3-q32.1 |
| FLJ43879 | - | 2q37.3 |
| FLJ43944 | - | 17q12 |
| FLJ44124 | - | 7p22.3 |
| FLJ44385 | - | 22q13.33 |
| FLJ44674 | - | 16q12.1 |
| FLJ44715 | - | 10q22.3 |
| FLJ44790 | - | 20q13.33 |
| FLJ44838 | - | - |
| FLJ45248 | - | 8q22.3 |
| FLJ45256 | - | 16p12.1 |
| FLJ45482 | - | - |
| FLJ45508 | - | 12q23.3 |
| FLJ45513 | - | 17q21.33 |
| FLJ45684 | - | 19p13.3 |
| FLJ45721 | - | 4p15.2 |
| FLJ45743 | - | 18q21.2 |
| FLJ45825 | - | - |
| FLJ45832 | - | 20q11.1 |
| FLJ45872 | - | 8q24.23 |
| FLJ45950 | - | 11q24.3 |
| FLJ46120 | - | 3q25.31 |
| FLJ46284 | - | 8q22.1 |
| FLJ46836 | - | 9q34.11 |
| FLJ46875 | - | 2q24.1 |
| FLJ46906 | - | 6q24.1 |
| FLNA | positive regulation of I-kappaB kinase/NF-kappaB cascade; receptor clustering; protein localization at cell surface; positive regulation of transcription factor import into nucleus; negative regulation of protein catabolic process; negative regulation of sequence-specific DNA binding transcription factor activity; early endosome to late endosome transport; establishment of protein localization; protein stabilization; cytoplasmic sequestering of protein; actin crosslink formation; spindle assembly involved in mitosis; platelet degranulation; inhibition of adenylate cyclase activity by dopamine receptor signaling pathway; blood coagulation; cell junction assembly; actin cytoskeleton reorganization; platelet activation | Xq28 |
| FLNB | cell differentiation; actin cytoskeleton organization; cytokine-mediated signaling pathway; muscle organ development; multicellular organismal development; signal transduction; cytoskeletal anchoring at plasma membrane | 3p14.3 |
| FLNC | muscle fiber development; cell junction assembly | 7q32-q35 |
| FLOT1 | - | 6p21.3 |
| FLOT2 | epidermis development; cell adhesion | 17q11-q12 |
| FLRT1 | cell adhesion | 11q12-q13 |
| FLRT2 | cell adhesion | 14q24-q32 |
| FLRT3 | cell adhesion | 20p11 |
| FLT1 | vascular endothelial growth factor receptor signaling pathway; blood vessel morphogenesis; embryonic morphogenesis; positive regulation of smooth muscle cell proliferation; positive regulation of angiogenesis; response to hypoxia; protein autophosphorylation; positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of MAPK cascade; positive regulation of MAP kinase activity; vascular endothelial growth factor signaling pathway; cellular response to vascular endothelial growth factor stimulus; positive regulation of vascular endothelial growth factor receptor signaling pathway; intracellular receptor mediated signaling pathway; positive regulation of cell migration; cell differentiation; peptidyl-tyrosine phosphorylation; positive regulation of phosphatidylinositol 3-kinase cascade; activation of MAPKK activity; monocyte chemotaxis; chemotaxis; regulation of smooth muscle contraction; transmembrane receptor protein tyrosine kinase signaling pathway; cell migration; positive regulation | 13q12 |
| FLT3 | positive regulation of phosphatidylinositol 3-kinase cascade; pro-T cell differentiation; peptidyl-tyrosine phosphorylation; cytokine-mediated signaling pathway; hemopoiesis; lymphocyte differentiation; vascular endothelial growth factor signaling pathway; positive regulation of tyrosine phosphorylation of STAT protein; regulation of apoptotic process; positive regulation of MAP kinase activity; negative regulation of cell proliferation; positive regulation of cell proliferation; transmembrane receptor protein tyrosine kinase signaling pathway; pro-B cell differentiation; myeloid progenitor cell differentiation; cellular response to cytokine stimulus; protein autophosphorylation; negative regulation of B cell differentiation; positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of MAPK cascade | 13q12 |
| FLT3LG | embryonic hemopoiesis; positive regulation of natural killer cell differentiation; lymphocyte differentiation; positive regulation of cell proliferation; signal transduction | 19q13.3 |
| FLT4 | positive regulation of ERK1 and ERK2 cascade; blood vessel morphogenesis; positive regulation of protein kinase C signaling cascade; positive regulation of protein phosphorylation; positive regulation of endothelial cell proliferation; vasculature development; lymphangiogenesis; sprouting angiogenesis; transmembrane receptor protein tyrosine kinase signaling pathway; positive regulation of cell proliferation; positive regulation vascular endothelial growth factor production; positive regulation of endothelial cell migration; peptidyl-tyrosine phosphorylation; cellular response to vascular endothelial growth factor stimulus; vascular endothelial growth factor signaling pathway; negative regulation of apoptotic process; positive regulation of MAPK cascade; positive regulation of JNK cascade; protein autophosphorylation; vascular endothelial growth factor receptor signaling pathway; regulation of blood vessel remodeling | 5q35.3 |
| FLVCR1 | cell death; multicellular organism growth; multicellular organismal development; cellular iron ion homeostasis; transport; in utero embryonic development; heme transport; erythrocyte differentiation; limb morphogenesis; heme export; embryonic digit morphogenesis; regulation of organ growth; spleen development; transmembrane transport; head morphogenesis | 1q32.3 |
| FLVCR1-AS1 | - | 1q32.3 |
| FLVCR2 | heme transport; transmembrane transport | 14q24.3 |
| FLYWCH1 | - | 16p13.3 |
| FLYWCH1P1 | - | 3q26.33 |
| FLYWCH2 | - | 16p13.3 |
| FMN1 | actin cytoskeleton organization; cellular component organization | 15q13.3 |
| FMN2 | polar body extrusion after meiotic divisions; establishment of meiotic spindle localization; oogenesis; meiotic metaphase I; multicellular organismal development; cellular component organization; meiotic chromosome movement towards spindle pole; actin cytoskeleton organization; intracellular signal transduction | 1q43 |
| FMNL1 | cortical actin cytoskeleton organization; substrate-dependent cell migration; regulation of cell shape; cellular process; cellular component organization | 17q21 |
| FMNL2 | cortical actin cytoskeleton organization; actin cytoskeleton organization; cytoskeleton organization; regulation of cell morphogenesis; cellular component organization | 2q23.3 |
| FMNL3 | actin cytoskeleton organization; cell migration; cellular component organization; regulation of cell shape; cytoskeleton organization | 12q13.12 |
| FMO1 | organic acid metabolic process; xenobiotic metabolic process; response to osmotic stress; toxin metabolic process; response to lipopolysaccharide; small molecule metabolic process; NADPH oxidation | 1q24.3 |
| FMO10P | - | 1q24.1 |
| FMO2 | organic acid metabolic process; NADP metabolic process; xenobiotic metabolic process; toxin metabolic process; drug metabolic process; small molecule metabolic process; NADPH oxidation; oxygen metabolic process | 1q24.3 |
| FMO3 | drug metabolic process; small molecule metabolic process; xenobiotic metabolic process | 1q24.3 |
| FMO4 | xenobiotic metabolic process | 1q24.3 |
| FMO5 | oxidation-reduction process | 1q21.1 |
| FMO6P | - | 1q24.3 |
| FMO8P | - | 1q24.1 |
| FMOD | transforming growth factor beta receptor complex assembly; wound healing; odontogenesis | 1q32 |
| FMR1 | central nervous system development; mRNA transport; negative regulation of translational initiation; transport | Xq27.3 |
| FMR1NB | - | Xq28 |
| FN1 | acute-phase response; leukocyte migration; substrate adhesion-dependent cell spreading; platelet activation; peptide cross-linking; cell migration; response to wounding; blood coagulation; cell adhesion; regulation of cell shape; platelet degranulation; angiogenesis | 2q34 |
| FN3K | fructoselysine metabolic process | 17q25.3 |
| FN3KRP | - | 17q25.3 |
| FNBP1 | endocytosis; nervous system development | 9q34 |
| FNBP1L | endocytosis | 1p22.1 |
| FNBP1P1 | - | - |
| FNBP4 | - | 11p11.2 |
| FNDC1 | positive regulation of protein phosphorylation; positive regulation of cardiac muscle cell apoptosis; regulation of protein transport; cellular response to hypoxia | 6q25 |
| FNDC3A | fertilization; spermatid development; cell-cell adhesion; Sertoli cell development | 13q14.2 |
| FNDC3B | - | 3q26.31 |
| FNDC3CP | - | - |
| FNDC4 | - | 2p23.3 |
| FNDC5 | - | 1p35.1 |
| FNDC7 | - | 1p13.3 |
| FNDC8 | - | 17q12 |
| FNIP1 | regulation of protein phosphorylation | 5q23.3 |
| FNIP2 | response to DNA damage stimulus; protein phosphorylation; regulation of protein phosphorylation; DNA damage response, signal transduction resulting in induction of apoptosis | 4q32.1 |
| FNTA | positive regulation of deacetylase activity; positive regulation of tubulin deacetylation; protein geranylgeranylation; protein farnesylation; transforming growth factor beta receptor signaling pathway; cellular component disassembly involved in apoptosis; apoptotic process | 8p11 |
| FNTAP1 | - | 11q14.2 |
| FNTB | negative regulation of cell proliferation; response to inorganic substance; response to organic cyclic compound; protein farnesylation; response to cytokine stimulus; wound healing; positive regulation of cell cycle; positive regulation of fibroblast proliferation | 14q23.3 |
| FOCAD | - | 9p21 |
| FOLH1 | proteolysis; folic acid-containing compound metabolic process | 11p11.2 |
| FOLH1B | proteolysis | 11q14.3 |
| FOLR1 | cell death; folic acid metabolic process; folic acid transport; receptor-mediated endocytosis | 11q13.3-q14.1 |
| FOLR2 | folic acid transport | 11q13.3-q13.5 |
| FOLR3 | folic acid transport | 11q13 |
| FOPNL | cell projection organization; microtubule anchoring; cilium assembly | 16p13.11 |
| FOS | SMAD protein signal transduction; cellular response to calcium ion; response to cAMP; response to corticosterone stimulus; stress-activated MAPK cascade; regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; innate immune response; response to drug; TRIF-dependent toll-like receptor signaling pathway; cellular response to reactive oxygen species; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; response to cytokine stimulus; cellular response to hormone stimulus; response to progesterone stimulus; response to lipopolysaccharide; cellular response to extracellular stimulus; sleep; response to organic cyclic compound; response to mechanical stimulus; inflammatory response; transforming growth factor beta receptor signaling pathway; nervous system development; f | 14q24.3 |
| FOSB | negative regulation of transcription from RNA polymerase II promoter; cellular response to calcium ion; behavior; multicellular organismal development | 19q13.32 |
| FOSL1 | cellular response to extracellular stimulus; cellular defense response; female pregnancy; learning; positive regulation of cell proliferation; negative regulation of cell proliferation; positive regulation of cell cycle; positive regulation of apoptotic process; response to hydrogen peroxide; response to drug; response to cytokine stimulus; response to progesterone stimulus; response to organic cyclic compound; positive regulation of transcription from RNA polymerase II promoter during mitosis; response to corticosterone stimulus; response to cAMP; chemotaxis; response to gravity; response to virus; response to mechanical stimulus; transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 11q13 |
| FOSL1P1 | - | - |
| FOSL2 | positive regulation of fibroblast proliferation; cell death; regulation of transcription from RNA polymerase II promoter | 2p23.3 |
| FOXA1 | regulation of transcription, DNA-dependent; response to estradiol stimulus; lung development; regulation of hormone levels; negative regulation of epithelial to mesenchymal transition; epithelial cell maturation involved in prostate gland development; positive regulation of cell-cell adhesion mediated by cadherin; embryo development; negative regulation of survival gene product expression; pattern specification process; chromatin remodeling; hormone metabolic process; positive regulation of sequence-specific DNA binding transcription factor activity; epithelial-mesenchymal signaling involved in prostate gland development; prostate gland stromal morphogenesis; prostate gland epithelium morphogenesis; secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development; lung epithelial cell differentiation; epithelial tube branching involved in lung morphogenesis; neuron fate specification; positive regulation of transcription from RNA polymerase II promoter; positive reg | 14q12-q13 |
| FOXA2 | positive regulation of neuron differentiation; positive regulation of transcription, DNA-dependent; negative regulation of neuron differentiation; negative regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase III promoter; cell development; neuron fate specification; regulation of sequence-specific DNA binding transcription factor activity; epithelial tube branching involved in lung morphogenesis; lung epithelial cell differentiation; regulation of insulin secretion involved in cellular response to glucose stimulus; response to interleukin-6; primitive streak formation; positive regulation of cell-cell adhesion mediated by cadherin; positive regulation of gastrulation; negative regulation of detection of glucose; regulation of transcription from RNA polymerase II promoter involved in detection of glucose; chromatin modification; negative regulation of glucokinase | 20p11 |
| FOXA3 | chromatin modification; embryo development; spermatogenesis; cellular response to starvation; positive regulation of hepatocyte differentiation; lung epithelial cell differentiation; epithelial tube branching involved in lung morphogenesis; regulation of sequence-specific DNA binding transcription factor activity; neuron fate specification; positive regulation of transcription from RNA polymerase II promoter; response to nutrient levels; endocrine pancreas development; cell differentiation; neural plate anterior/posterior regionalization; negative regulation of cell proliferation; brain development; regulation of transcription, DNA-dependent; cellular glucose homeostasis | 19q13.2-q13.4 |
| FOXB1 | mammillary body development; thalamus development; cell migration in diencephalon; inferior colliculus development; mammary gland lobule development; mammillothalamic axonal tract development; lactation; brain development; axon target recognition; pattern specification process; somitogenesis; urogenital system development; epithelial cell differentiation involved in mammary gland alveolus development; visual learning; regulation of sequence-specific DNA binding transcription factor activity; floor plate development; midbrain development; spinal cord development; tissue development; telencephalon cell migration; embryo development; hypothalamus cell migration; negative regulation of neuron apoptosis | 15q22 |
| FOXB2 | embryo development; regulation of sequence-specific DNA binding transcription factor activity; brain development; pattern specification process; tissue development | 9q21.2 |
| FOXC1 | brain development; cardiac muscle cell proliferation; ventricular cardiac muscle tissue morphogenesis; regulation of sequence-specific DNA binding transcription factor activity; regulation of blood vessel size; artery morphogenesis; in utero embryonic development; mesenchymal cell differentiation; Notch signaling pathway; anti-apoptosis; regulation of transcription, DNA-dependent; heart morphogenesis; blood vessel remodeling; lymphangiogenesis; somitogenesis; paraxial mesodermal cell fate commitment; ureteric bud development; metanephros development; eye development; vasculogenesis; blood vessel development; ovarian follicle development; ossification; skeletal system development; germ cell migration; heart development; paraxial mesoderm formation; vascular endothelial growth factor receptor signaling pathway; regulation of organ growth; positive regulation of transcription from RNA polymerase II promoter; negative regulation of mitotic cell cycle; positive regulation of transcription, DNA-dependent; camera-ty | 6p25 |
| FOXC2 | heart morphogenesis; anti-apoptosis; Notch signaling pathway; multicellular organismal development; mesoderm development; heart development; cell proliferation; response to hormone stimulus; positive regulation of endothelial cell migration; neural crest cell development; neural crest cell fate commitment; blood vessel remodeling; lymphangiogenesis; somitogenesis; ureteric bud development; metanephros development; vasculogenesis; patterning of blood vessels; blood vessel development; ossification; skeletal system development; negative regulation of transcription from RNA polymerase II promoter; embryonic viscerocranium morphogenesis; insulin receptor signaling pathway; positive regulation of cell migration involved in sprouting angiogenesis; glomerular mesangial cell development; glomerular visceral epithelial cell differentiation; glomerular endothelium development; cardiac muscle cell proliferation; ventricular cardiac muscle tissue morphogenesis; regulation of sequence-specific DNA binding transcription fa | 16q24.1 |
| FOXD1 | neural crest cell migration; positive regulation of kidney development; metanephric capsule specification; metanephric capsule development; dichotomous subdivision of terminal units involved in ureteric bud branching; cartilage development; regulation of sequence-specific DNA binding transcription factor activity; iridophore differentiation; lateral line nerve glial cell development; axon extension involved in axon guidance; sympathetic nervous system development; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of BMP signaling pathway; melanocyte differentiation; positive regulation of gene expression; embryo development; peripheral nervous system development; pattern specification process; regulation of transcription, DNA-dependent; enteric nervous system development | 5q12-q13 |
| FOXD2 | iridophore differentiation; lateral line nerve glial cell development; axon extension involved in axon guidance; sympathetic nervous system development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of BMP signaling pathway; melanocyte differentiation; embryo development; peripheral nervous system development; pattern specification process; regulation of transcription, DNA-dependent; neural crest cell migration; enteric nervous system development; cartilage development; dichotomous subdivision of terminal units involved in ureteric bud branching; positive regulation of kidney development; regulation of sequence-specific DNA binding transcription factor activity | 1p34-p32 |
| FOXD2-AS1 | - | 1p33 |
| FOXD3 | neural crest cell migration; negative regulation of transcription from RNA polymerase II promoter; branching involved in ureteric bud morphogenesis; cartilage development; regulation of sequence-specific DNA binding transcription factor activity; iridophore differentiation; lateral line nerve glial cell development; in utero embryonic development; axon extension involved in axon guidance; sympathetic nervous system development; enteric nervous system development; positive regulation of transcription from RNA polymerase II promoter; melanocyte differentiation; peripheral nervous system development; pattern specification process; embryonic placenta development; kidney development; trophectodermal cell differentiation | 1p31.3 |
| FOXD4 | enteric nervous system development; positive regulation of kidney development; dichotomous subdivision of terminal units involved in ureteric bud branching; cartilage development; regulation of sequence-specific DNA binding transcription factor activity; iridophore differentiation; lateral line nerve glial cell development; axon extension involved in axon guidance; sympathetic nervous system development; neural crest cell migration; regulation of transcription, DNA-dependent; multicellular organismal development; pattern specification process; peripheral nervous system development; embryo development; melanocyte differentiation; positive regulation of BMP signaling pathway; positive regulation of transcription from RNA polymerase II promoter | 9p24.3 |
| FOXD4L1 | embryo development; sympathetic nervous system development; axon extension involved in axon guidance; lateral line nerve glial cell development; iridophore differentiation; regulation of sequence-specific DNA binding transcription factor activity; enteric nervous system development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of BMP signaling pathway; melanocyte differentiation; peripheral nervous system development; pattern specification process; neural crest cell migration; cartilage development; dichotomous subdivision of terminal units involved in ureteric bud branching; positive regulation of kidney development | 2q13 |
| FOXD4L3 | dichotomous subdivision of terminal units involved in ureteric bud branching; melanocyte differentiation; neural crest cell migration; cartilage development; regulation of sequence-specific DNA binding transcription factor activity; iridophore differentiation; lateral line nerve glial cell development; axon extension involved in axon guidance; sympathetic nervous system development; enteric nervous system development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of BMP signaling pathway; pattern specification process; peripheral nervous system development; positive regulation of kidney development; embryo development | 9q21.11 |
| FOXE1 | negative regulation of transcription from RNA polymerase II promoter; lens morphogenesis in camera-type eye; thyroid hormone generation; pattern specification process; peripheral nervous system development; anatomical structure morphogenesis; cell migration; thyroid gland development; hair follicle morphogenesis; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; enteric nervous system development; sympathetic nervous system development; thymus development; embryonic organ morphogenesis; axon extension involved in axon guidance; lateral line nerve glial cell development; regulation of sequence-specific DNA binding transcription factor activity; hard palate development; soft palate development; pharynx development | 9q22 |
| FOXF1 | trachea development; lung alveolus development; blood vessel development; negative regulation of transcription from RNA polymerase II promoter; lateral mesodermal cell differentiation; embryonic digestive tract morphogenesis; digestive tract development; embryonic ectodermal digestive tract morphogenesis; embryonic foregut morphogenesis; negative regulation of inflammatory response; regulation of sequence-specific DNA binding transcription factor activity; regulation of smooth muscle cell differentiation; lung vasculature development; in utero embryonic development; epithelial tube branching involved in lung morphogenesis; branching involved in open tracheal system development; right lung morphogenesis; lung lobe morphogenesis; venous blood vessel development; epithelial cell differentiation involved in mammary gland alveolus development; cellular response to cytokine stimulus; cellular response to organic cyclic compound; renal system development; ureter development; mesenchyme migration; midgut development; | 16q24 |
| FOXF2 | establishment of planar polarity of embryonic epithelium; extracellular matrix organization; tissue development; embryo development; pattern specification process; epithelial to mesenchymal transition; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; embryonic digestive tract development; genitalia development; regulation of sequence-specific DNA binding transcription factor activity; palate development | 6p25.3 |
| FOXG1 | multicellular organismal development; regulation of mitotic cell cycle; brain development; embryo development ending in birth or egg hatching; tissue development; dorsal/ventral pattern formation; axon midline choice point recognition; central nervous system neuron development; regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of cell cycle; negative regulation of neuron differentiation; nose development; inner ear morphogenesis; nonmotile primary cilium assembly; hindbrain development; positive regulation of neuroblast proliferation | 14q13 |
| FOXH1 | heart looping; embryonic heart tube anterior/posterior pattern specification; heart jogging; cell migration involved in gastrulation; regulation of transcription, DNA-dependent; transforming growth factor beta receptor signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; axial mesoderm development; regulation of sequence-specific DNA binding transcription factor activity; activin receptor signaling pathway; floor plate formation; specification of organ position; determination of left/right symmetry; blood vessel development | 8q24.3 |
| FOXI1 | embryo development; pattern specification process; epidermal cell fate specification; inner ear morphogenesis; otic placode formation; positive regulation of transcription from RNA polymerase II promoter; regulation of sequence-specific DNA binding transcription factor activity | 5q34 |
| FOXI2 | regulation of sequence-specific DNA binding transcription factor activity; otic placode formation; epidermal cell fate specification; pattern specification process | 10q26.2 |
| FOXI3 | pattern specification process; epidermal cell fate specification; otic placode formation; regulation of sequence-specific DNA binding transcription factor activity | 2p11.2 |
| FOXJ1 | lung development; negative regulation of transcription from RNA polymerase II promoter; actin cytoskeleton organization; pattern specification process; spermatogenesis; humoral immune response; regulation of transcription, DNA-dependent; negative regulation of humoral immune response mediated by circulating immunoglobulin; positive regulation of central B cell tolerance induction; negative regulation of germinal center formation; central tolerance induction; heart looping; regulation of epithelial cell differentiation; epithelial cell differentiation; negative regulation of NF-kappaB transcription factor activity; activation of Rho GTPase activity; negative regulation of T cell differentiation in thymus; establishment of apical/basal cell polarity; negative regulation of T cell proliferation; cilium assembly; negative regulation of interleukin-6 biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; negative regulation of B cell activation; leukocyte migration; left/right | 17q25.1 |
| FOXJ2 | pattern specification process; embryo development; tissue development; regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; organ development | 12p13.31 |
| FOXJ3 | pattern specification process; organ development; embryo development; positive regulation of transcription, DNA-dependent; tissue development; regulation of sequence-specific DNA binding transcription factor activity | 1p34.2 |
| FOXK1 | negative regulation of cell growth; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; regulation of sequence-specific DNA binding transcription factor activity; cell differentiation; tissue development; embryo development; muscle organ development; pattern specification process; regulation of transcription from RNA polymerase II promoter | 7p22.1 |
| FOXK2 | regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; pattern specification process; embryo development; tissue development; regulation of sequence-specific DNA binding transcription factor activity | 17q25 |
| FOXL1 | pattern specification process; forelimb morphogenesis; proteoglycan biosynthetic process; regulation of Wnt receptor signaling pathway; organ morphogenesis; embryo development; heart development; visceral mesoderm-endoderm interaction involved in midgut development; brain development; multicellular organismal development; regulation of transcription, DNA-dependent; camera-type eye development; regulation of sequence-specific DNA binding transcription factor activity; cartilage development | 16q24 |
| FOXL2 | positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of apoptotic process; positive regulation of transcription from RNA polymerase II promoter; embryonic eye morphogenesis; menstruation; cell differentiation; pattern specification process; female somatic sex determination; induction of apoptosis; regulation of transcription, DNA-dependent; DNA fragmentation involved in apoptotic nuclear change; extraocular skeletal muscle development; ovarian follicle development; granulosa cell differentiation; convergent extension; regulation of sequence-specific DNA binding transcription factor activity | 3q23 |
| FOXL2NB | - | 3q22.3 |
| FOXM1 | positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of cell proliferation; regulation of cell proliferation; negative regulation of stress-activated MAPK cascade; tissue development; embryo development; vasculogenesis; positive regulation of transcription from RNA polymerase II promoter; regulation of Ras protein signal transduction; positive regulation of double-strand break repair; regulation of reactive oxygen species metabolic process; negative regulation of cell aging; regulation of cell cycle arrest; regulation of sequence-specific DNA binding transcription factor activity; pattern specification process; cell cycle; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; DNA repair; liver development; regulation of cell growth; negative regulation of transcription from RNA polymerase I | 12p13 |
| FOXN1 | keratinocyte differentiation; regulation of sequence-specific DNA binding transcription factor activity; epithelial cell proliferation; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; defense response; pattern specification process; epidermis development; embryo development; organ morphogenesis; thymus development | 17q11-q12 |
| FOXN2 | regulation of sequence-specific DNA binding transcription factor activity; tissue development; embryo development; pattern specification process; regulation of transcription, DNA-dependent | 2p22-p16 |
| FOXN3 | regulation of sequence-specific DNA binding transcription factor activity; DNA damage checkpoint; tissue development; negative regulation of transcription, DNA-dependent; embryo development; G2 phase of mitotic cell cycle; cell cycle; pattern specification process | 14q31.3 |
| FOXN3-AS1 | - | 14q32.11 |
| FOXN3P1 | - | Xq22.1 |
| FOXN4 | regulation of sequence-specific DNA binding transcription factor activity; axon extension; neuron fate commitment; organ development; pattern specification process; cell differentiation; tissue development; embryo development; regulation of heart contraction | 12q24.11 |
| FOXO1 | negative regulation of stress-activated MAPK cascade; nerve growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of gluconeogenesis; regulation of cell proliferation; organ development; blood vessel development; anti-apoptosis; response to DNA damage stimulus; epidermal growth factor receptor signaling pathway; endocrine pancreas development; pattern specification process; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; embryo development; tissue development; phosphatidylinositol-mediated signaling; regulation of sequence-specific DNA binding transcription factor activity | 13q14.1 |
| FOXO1B | - | 5q35.3 |
| FOXO3 | regulation of sequence-specific DNA binding transcription factor activity; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of erythrocyte differentiation; glucose homeostasis; regulation of cell proliferation; induction of apoptosis; negative regulation of transcription from RNA polymerase II promoter; ovulation from ovarian follicle; initiation of primordial ovarian follicle growth; antral ovarian follicle growth; oocyte maturation; regulation of translation; apoptotic process; DNA damage response, signal transduction by p53 class mediator; response to stress; response to DNA damage stimulus; epidermal growth factor receptor signaling pathway; pattern specification process; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; embryo development; tissue development | 6q21 |
| FOXO3B | - | 17p11.2 |
| FOXO4 | negative regulation of angiogenesis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of smooth muscle cell differentiation; regulation of sequence-specific DNA binding transcription factor activity; organ development; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; G1 phase of mitotic cell cycle; cell differentiation; epidermal growth factor receptor signaling pathway; tissue development; embryo development; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; negative regulation of cell proliferation; muscle organ development; pattern specification process; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; cell cycle; cell cycle arrest; mitotic cell cycle G2/M transition DNA damage checkpoint | Xq13.1 |
| FOXO6 | negative regulation of smooth muscle cell differentiation; response to DNA damage stimulus; pattern specification process; negative regulation of cell proliferation; insulin receptor signaling pathway; embryo development; tissue development; negative regulation of angiogenesis; positive regulation of transcription from RNA polymerase II promoter; organ development; regulation of sequence-specific DNA binding transcription factor activity | 1p34.2 |
| FOXP1 | in utero embryonic development; sarcomere organization; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; smooth muscle tissue development; regulation of sequence-specific DNA binding transcription factor activity; cardiac muscle cell differentiation; regulation of cardiac muscle cell proliferation; positive regulation of epithelial cell proliferation involved in lung morphogenesis; positive regulation of cardiac muscle cell differentiation; lung development; heart development; skeletal muscle tissue development; pattern specification process; pre-B cell differentiation; positive regulation of immunoglobulin production; positive regulation of mesenchymal cell proliferation; immunoglobulin V(D)J recombination; motor axon guidance; embryo development; ventral spinal cord development | 3p14.1 |
| FOXP1-IT1 | - | - |
| FOXP2 | growth; skeletal muscle tissue development; positive regulation of epithelial cell proliferation involved in lung morphogenesis; righting reflex; regulation of sequence-specific DNA binding transcription factor activity; smooth muscle tissue development; lung alveolus development; negative regulation of transcription, DNA-dependent; camera-type eye development; vocal learning; caudate nucleus development; putamen development; cerebral cortex development; positive regulation of mesenchymal cell proliferation; pattern specification process; embryo development; post-embryonic development; cerebellum development | 7q31 |
| FOXP3 | growth; positive regulation of histone acetylation; negative regulation of histone acetylation; negative regulation of tumor necrosis factor production; negative regulation of cytokine biosynthetic process; T cell activation; negative regulation of T cell proliferation; vocal learning; camera-type eye development; T cell homeostasis; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of interferon-gamma biosynthetic process; negative regulation of T cell cytokine production; embryo development; response to virus; negative regulation of cell proliferation; skeletal muscle tissue development; pattern specification process; regulation of transcription, DNA-dependent; chromatin remodeling; positive regulation of peripheral T cell tolerance induction; post-embryonic development; negative regulation of chronic inflammatory response; positive regulation of T cell anergy; regulation of immunoglobulin production; tolerance induction to self antigen; T cell mediated | Xp11.23 |
| FOXP4 | pattern specification process; regulation of sequence-specific DNA binding transcription factor activity; embryonic foregut morphogenesis; tissue development; heart development | 6p21.1 |
| FOXQ1 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; DNA fragmentation involved in apoptotic nuclear change; pattern specification process; regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; hair follicle morphogenesis; embryo development | 6p25 |
| FOXR1 | pattern specification process; embryo development; tissue development; organ development; regulation of sequence-specific DNA binding transcription factor activity | 11q23.3 |
| FOXR2 | organ development; regulation of sequence-specific DNA binding transcription factor activity; tissue development; embryo development; pattern specification process | Xp11.21 |
| FOXRED1 | - | 11q24.2 |
| FOXRED2 | ER-associated protein catabolic process | 22q12.3 |
| FOXS1 | negative regulation of transcription, DNA-dependent; ventricular cardiac muscle tissue morphogenesis; cardiac muscle cell proliferation; ossification; blood vessel development; patterning of blood vessels; vasculogenesis; metanephros development; ureteric bud development; somitogenesis; lymphangiogenesis; blood vessel remodeling; regulation of transcription, DNA-dependent; anti-apoptosis; Notch signaling pathway; multicellular organismal development; insulin receptor signaling pathway; collagen fibril organization; neural crest cell fate commitment; neuromuscular process controlling balance; regulation of blood vessel size; artery morphogenesis; embryonic viscerocranium morphogenesis; paraxial mesodermal cell fate commitment; vascular endothelial growth factor receptor signaling pathway; regulation of organ growth; positive regulation of transcription from RNA polymerase II promoter; negative regulation of sequence-specific DNA binding transcription factor activity; camera-type eye development; positive regul | 20q11.21 |
| FP2234 | - | - |
| FP6628 | - | 8q22.1 |
| FPGS | tetrahydrofolylpolyglutamate biosynthetic process; one-carbon metabolic process; folic acid metabolic process; small molecule metabolic process; biosynthetic process; water-soluble vitamin metabolic process; vitamin metabolic process; nucleobase-containing compound metabolic process | 9q34.1 |
| FPGT | fucose metabolic process | 1p31.1 |
| FPR1 | activation of MAPK activity; cellular component movement; chemotaxis; signal transduction; nitric oxide mediated signal transduction; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein coupled receptor signaling pathway | 19q13.4 |
| FPR2 | G-protein coupled receptor signaling pathway; cellular component movement; chemotaxis; inflammatory response; cell adhesion | 19q13.3-q13.4 |
| FRA10AC1 | - | 10q23.33 |
| FRAS1 | cell communication | 4q21.21 |
| FRAT1 | Wnt receptor signaling pathway; embryonic axis specification | 10q24.1 |
| FRAT2 | Wnt receptor signaling pathway; cell proliferation; multicellular organismal development | 10q24.1 |
| FRDAP | - | 14q24.3 |
| FREM1 | multicellular organismal development; cell-matrix adhesion; cell adhesion; cell communication | 9p22.3 |
| FREM2 | morphogenesis of an epithelium; cell communication; cell adhesion; homophilic cell adhesion; multicellular organismal development | 13q13.3 |
| FREM3 | cell adhesion; cell communication | 4q31.21 |
| FRG1BP | - | 20q11.21 |
| FRG1HP | - | 9q12 |
| FRG1JP | - | 9q13 |
| FRG2DP | - | 16p11.1 |
| FRG2EP | - | - |
| FRK | protein phosphorylation; cell differentiation; negative regulation of cell proliferation | 6q21-q22.3 |
| FRMD1 | - | 6q27 |
| FRMD3 | - | 9q21.32 |
| FRMD4A | - | 10p13 |
| FRMD4B | - | 3p14.1 |
| FRMD5 | - | 15q15.3 |
| FRMD6 | - | 14q22.1 |
| FRMD6-AS1 | - | 14q22.1 |
| FRMD7 | nervous system development; regulation of neuron projection development | Xq26.2 |
| FRMD8 | - | 11q13 |
| FRMD8P1 | - | Xq12 |
| FRMPD1 | - | 9p13.2 |
| FRMPD3 | - | Xq22 |
| FRMPD3-AS1 | - | - |
| FRMPD4 | positive regulation of synapse structural plasticity | Xp22.2 |
| FRRS1 | electron transport chain; transport | 1p21.2 |
| FRRS1L | - | 9q31 |
| FRS2 | insulin receptor signaling pathway; neuroblast proliferation; activation of phospholipase C activity; G-protein coupled receptor signaling pathway; activation of MAPK activity; fibroblast growth factor receptor signaling pathway; anterior/posterior axis specification, embryo; forebrain development; optic placode formation involved in camera-type eye formation; activation of MAPKK activity; nerve growth factor receptor signaling pathway; regulation of epithelial cell proliferation; gastrulation with mouth forming second; organ induction; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis; transmembrane receptor protein tyrosine phosphatase signaling pathway; ventricular septum development | 12q15 |
| FRS3 | signal transduction; fibroblast growth factor receptor signaling pathway | 6p21.1 |
| FRY | regulation of transcription, DNA-dependent | 13q13.1 |
| FRY-AS1 | - | 13q13.1 |
| FRYL | regulation of transcription, DNA-dependent | 4p11 |
| FRZB | skeletal system development; cochlea morphogenesis; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of hepatocyte differentiation; somite development; negative regulation of cartilage development; epithelium development; mammary gland involution; convergent extension involved in organogenesis; positive regulation of fat cell differentiation; positive regulation of apoptotic process; negative regulation of cell growth; cell differentiation; neural crest cell differentiation; negative regulation of cell development; gonad development; negative regulation of cell proliferation; brain development; axonogenesis; multicellular organismal development; vasculature development; negative regulation of Wnt receptor signaling pathway | 2qter |
| FSCB | peptidyl-serine phosphorylation | 14q21.2 |
| FSCN1 | actin filament bundle assembly; cell motility; actin cytoskeleton organization; cell migration; cell proliferation | 7p22 |
| FSCN2 | visual perception; anatomical structure morphogenesis; actin cytoskeleton organization; actin filament bundle assembly | 17q25 |
| FSCN3 | - | 7q31.3 |
| FSD1 | cell cycle; cell division; mitosis | 19p13.3 |
| FSD1L | - | 9q31 |
| FSD2 | - | 15q25.2 |
| FSHR | follicle-stimulating hormone signaling pathway; G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; spermatogenesis; female gamete generation; gonad development; male gonad development; female gonad development; regulation of chromosome organization; spermatogenesis, exchange of chromosomal proteins; transcytosis | 2p21-p16 |
| FSIP1 | - | 15q14 |
| FSIP2 | - | 2q32.1 |
| FST | hemopoietic progenitor cell differentiation; signal transduction; negative regulation of follicle-stimulating hormone secretion; positive regulation of hair follicle development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of activin receptor signaling pathway | 5q11.2 |
| FSTL1 | BMP signaling pathway | 3q13.33 |
| FSTL3 | regulation of transcription from RNA polymerase II promoter; ossification; kidney development; hemopoietic progenitor cell differentiation; spermatogenesis; male gonad development; positive regulation of cell-cell adhesion; lung development; adrenal gland development; negative regulation of BMP signaling pathway; negative regulation of activin receptor signaling pathway; negative regulation of osteoclast differentiation; positive regulation of transcription from RNA polymerase II promoter; cellular response to metal ion; negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 19p13 |
| FSTL4 | - | 5q31.1 |
| FSTL5 | - | 4q32.3 |
| FTCD | histidine catabolic process; cytoskeleton organization; folic acid-containing compound metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process | 21q22.3 |
| FTCDNL1 | - | 2q33.1 |
| FTH1 | transmembrane transport; negative regulation of necrotic cell death; negative regulation of fibroblast proliferation; cellular membrane organization; negative regulation of cell proliferation; immune response; post-Golgi vesicle-mediated transport; intracellular sequestering of iron ion; cellular iron ion homeostasis; iron ion transport | 11q13 |
| FTH1P1 | - | 1p34.3 |
| FTH1P10 | - | 5p15.1 |
| FTH1P11 | - | 8q21.13 |
| FTH1P12 | - | 9p22.3 |
| FTH1P14 | - | Xp21.1 |
| FTH1P15 | - | 6p12 |
| FTH1P16 | - | 11q13 |
| FTH1P2 | - | 1q42.13 |
| FTH1P20 | - | 2q31.3 |
| FTH1P23 | - | - |
| FTH1P27 | - | Xp21.1 |
| FTH1P3 | - | 2p23.3 |
| FTH1P4 | - | 3q21.3 |
| FTH1P5 | - | 6p12.3 |
| FTH1P7 | - | 13q12.11 |
| FTH1P8 | - | Xq28 |
| FTHL17 | cellular iron ion homeostasis; iron ion transport | Xp21 |
| FTL | iron ion transport; cellular iron ion homeostasis; post-Golgi vesicle-mediated transport; cell death; cellular membrane organization; iron ion homeostasis; transmembrane transport | 19q13.33 |
| FTLP10 | - | 4q13.2 |
| FTLP14 | - | - |
| FTLP2 | - | Xp21.2 |
| FTLP3 | - | 20p13 |
| FTLP4 | - | 9p21.1 |
| FTLP7 | - | 11q23.3 |
| FTO | regulation of respiratory system process; DNA demethylation; oxidative demethylation; regulation of white fat cell proliferation; adipose tissue development; RNA repair; regulation of multicellular organism growth; oxidative single-stranded RNA demethylation; oxidative single-stranded DNA demethylation; temperature homeostasis; DNA dealkylation involved in DNA repair; regulation of lipid storage | 16q12.2 |
| FTO-IT1 | - | 16q12.2 |
| FTOP1 | - | - |
| FTSJ1 | RNA methylation; rRNA processing | Xp11.23 |
| FTSJ2 | rRNA methylation; cell proliferation; rRNA processing | 7p22 |
| FTSJ3 | RNA methylation; rRNA processing | 17q23.3 |
| FTX | - | Xq13.2 |
| FUBP1 | transcription from RNA polymerase II promoter; regulation of gene expression; regulation of transcription, DNA-dependent | 1p31.1 |
| FUBP3 | transcription, DNA-dependent; regulation of gene expression; positive regulation of transcription, DNA-dependent | 9q34.11 |
| FUCA1 | glycosaminoglycan catabolic process; fucose metabolic process; carbohydrate metabolic process | 1p34 |
| FUCA2 | carbohydrate metabolic process; fucose metabolic process | 6q24 |
| FUK | metabolic process | 16q22.1 |
| FUNDC1 | - | Xp11.3 |
| FUNDC2 | - | Xq28 |
| FUNDC2P1 | - | 5q13.2 |
| FUNDC2P2 | - | 2p11.2 |
| FUNDC2P4 | - | 22q13.1 |
| FUOM | - | 10q26.3 |
| FURIN | post-translational protein modification; positive regulation of membrane protein ectodomain proteolysis; regulation of endopeptidase activity; nerve growth factor receptor signaling pathway; signal peptide processing; proteolysis; Notch signaling pathway; cellular protein metabolic process; peptide biosynthetic process; regulation of protein catabolic process; secretion by cell; negative regulation of transforming growth factor beta1 production; negative regulation of nerve growth factor production; nerve growth factor production; negative regulation of low-density lipoprotein particle receptor catabolic process; nerve growth factor processing; positive regulation of transforming growth factor beta receptor signaling pathway; cell proliferation; protein processing; peptide hormone processing; peptidyl-glutamic acid carboxylation; viral assembly, maturation, egress, and release; positive regulation of cell migration; aging; transforming growth factor beta receptor signaling pathway | 15q26.1 |
| FUS | nuclear mRNA splicing, via spliceosome; cell death; RNA splicing; gene expression | 16p11.2 |
| FUT1 | fucosylation; L-fucose catabolic process; protein glycosylation; carbohydrate metabolic process | 19q13.3 |
| FUT10 | hemopoiesis; protein folding; protein glycosylation; protein targeting; nervous system development; fertilization; L-fucose catabolic process; embryo development; wound healing | 8p12 |
| FUT11 | protein glycosylation | 10q22.2 |
| FUT2 | carbohydrate metabolic process; protein glycosylation; fucosylation; L-fucose catabolic process | 19q13.3 |
| FUT3 | protein glycosylation; oligosaccharide biosynthetic process; cell-cell recognition; fucosylation; macromolecule glycosylation | 19p13.3 |
| FUT4 | L-fucose catabolic process; carbohydrate metabolic process; protein glycosylation; fucosylation | 11q21 |
| FUT6 | protein glycosylation; fucosylation; L-fucose catabolic process | 19p13.3 |
| FUT7 | leukocyte migration involved in immune response; L-fucose catabolic process; fucosylation; protein glycosylation; CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation | 9q34.3 |
| FUT8 | N-glycan processing; cellular protein metabolic process; post-translational protein modification; receptor metabolic process; L-fucose catabolic process; N-glycan fucosylation; protein glycosylation in Golgi; protein N-linked glycosylation via asparagine; cell migration; oligosaccharide biosynthetic process; respiratory gaseous exchange; integrin-mediated signaling pathway; transforming growth factor beta receptor signaling pathway; protein N-linked glycosylation; in utero embryonic development | 14q24.3 |
| FUT8-AS1 | - | 14q23.3 |
| FUT9 | L-fucose catabolic process; fucosylation; nervous system development; protein glycosylation; carbohydrate metabolic process | 6q16 |
| FUZ | regulation of smoothened signaling pathway; multicellular organismal development; embryonic body morphogenesis; embryonic skeletal system morphogenesis; protein transport; cell projection organization; cilium assembly; establishment of planar polarity; hair follicle development; neural tube closure | 19q13.33 |
| FXN | positive regulation of metalloenzyme activity; adult walking behavior; heme biosynthetic process; oxidative phosphorylation; ion transport; cellular iron ion homeostasis; mitochondrion organization; negative regulation of release of cytochrome c from mitochondria; cellular response to hydrogen peroxide; positive regulation of oxidoreductase activity; positive regulation of lyase activity; positive regulation of transferase activity; negative regulation of organ growth; positive regulation of axon extension; regulation of ferrochelatase activity; positive regulation of cell proliferation; aerobic respiration; embryo development ending in birth or egg hatching; response to iron ion; negative regulation of apoptotic process; response to organic cyclic compound; protein autoprocessing; iron incorporation into metallo-sulfur cluster; proprioception; positive regulation of cell growth; negative regulation of multicellular organism growth; response to drug | 9q21.11 |
| FXR1 | cell differentiation; negative regulation of translation; muscle organ development; multicellular organismal development; apoptotic process | 3q28 |
| FXR2 | - | 17p13.1 |
| FXYD1 | muscle contraction; cellular calcium ion homeostasis; chloride transport; ion transport | 19q13.1 |
| FXYD2 | transmembrane transport; ion transmembrane transport; sodium ion transport; potassium ion transport; ion transport; transport | 11q23 |
| FXYD3 | regulation of catalytic activity; chloride transport; ion transport | 19q13.12 |
| FXYD4 | ion transport | 10q11.21 |
| FXYD5 | negative regulation of calcium-dependent cell-cell adhesion; microvillus assembly; ion transport | 19q13.12 |
| FXYD6 | ion transport | 11q23.3 |
| FXYD6P2 | - | 10p11.1 |
| FXYD6P3 | ion transport | Xq13.2 |
| FXYD7 | regulation of ion transport | 19q13.12 |
| FYB | NLS-bearing substrate import into nucleus; immune response; signal transduction; intracellular protein kinase cascade; T cell receptor signaling pathway; protein phosphorylation | 5p13.1 |
| FYCO1 | transport; plus-end-directed vesicle transport along microtubule | 3p21.31 |
| FYN | blood coagulation; multicellular organismal development; axon guidance; leukocyte migration; T cell receptor signaling pathway; regulation of defense response to virus by virus; interspecies interaction between organisms; intracellular protein kinase cascade; protein phosphorylation; T cell costimulation; platelet activation; viral reproduction; feeding behavior; calcium ion transport; learning | 6q21 |
| FYTTD1 | mRNA export from nucleus; transport | 3q29 |
| FZD1 | canonical Wnt receptor signaling pathway involved in osteoblast differentiation; Wnt receptor signaling pathway, calcium modulating pathway; negative regulation of transcription, DNA-dependent; canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation; response to drug; autocrine signaling; lung alveolus development; positive regulation of sequence-specific DNA binding transcription factor activity; hard palate development; canonical Wnt receptor signaling pathway; regulation of osteoblast differentiation; embryo development; cellular response to vitamin D; cellular response to growth factor stimulus; cellular response to peptide hormone stimulus; negative regulation of canonical Wnt receptor signaling pathway; planar cell polarity pathway involved in neural tube closure; positive regulation of transcription, DNA-dependent; negative regulation of catenin import into nucleus; epithelial cell differentiation; negative regulation of BMP signaling pathway; neuron differentiation; | 7q21 |
| FZD10 | brain development; vasculature development; cellular response to retinoic acid; canonical Wnt receptor signaling pathway; positive regulation of JUN kinase activity; non-canonical Wnt receptor signaling pathway; negative regulation of Rho GTPase activity; regulation of actin cytoskeleton organization; positive regulation of Rac GTPase activity; neuron differentiation; embryo development; gonad development | 12q24.33 |
| FZD10-AS1 | - | 12q24.33 |
| FZD2 | axonogenesis; multicellular organismal development; cell-cell signaling; Wnt receptor signaling pathway, calcium modulating pathway; elevation of cytosolic calcium ion concentration; G-protein signaling, coupled to cGMP nucleotide second messenger; outflow tract morphogenesis; muscular septum morphogenesis; membranous septum morphogenesis; gonad development; vasculature development; cell activation; sensory perception of smell; planar cell polarity pathway involved in neural tube closure; cochlea morphogenesis; cellular response to peptide hormone stimulus; cellular response to growth factor stimulus; cellular response to vitamin D; inner ear receptor cell development; canonical Wnt receptor signaling pathway; hard palate development; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; epithelial cell differentiation; positive regulation of cGMP metabolic process; neuron differentiation; Wnt receptor signaling pathway; embryo | 17q21.1 |
| FZD3 | neural tube closure; vasculature development; G-protein signaling, coupled to cGMP nucleotide second messenger; canonical Wnt receptor signaling pathway; multicellular organismal development; gonad development; facial nucleus development; neuron differentiation; cell proliferation in midbrain; inner ear morphogenesis; establishment of planar polarity; commissural neuron axon guidance | 8p21 |
| FZD4 | positive regulation of transcription, DNA-dependent; retinal blood vessel morphogenesis; blood vessel development; vasculogenesis; Wnt receptor signaling pathway, calcium modulating pathway; brain development; sensory perception of sound; embryo development; negative regulation of cell-substrate adhesion; Wnt receptor signaling pathway; neuron differentiation; regulation of vascular endothelial growth factor receptor signaling pathway; substrate adhesion-dependent cell spreading; extracellular matrix-cell signaling; progesterone secretion; positive regulation of sequence-specific DNA binding transcription factor activity; canonical Wnt receptor signaling pathway; retina vasculature morphogenesis in camera-type eye; cerebellum vasculature morphogenesis; cellular response to retinoic acid; locomotion involved in locomotory behavior | 11q14.2 |
| FZD5 | brain development; axonogenesis; multicellular organismal development; apoptotic process; angiogenesis; embryonic axis specification; Wnt receptor signaling pathway involved in dorsal/ventral axis specification; anterior/posterior axis specification, embryo; gonad development; Spemann organizer formation; neuron differentiation; embryonic camera-type eye development; post-embryonic camera-type eye development; positive regulation of interferon-gamma production; T cell differentiation in thymus; positive regulation of transcription from RNA polymerase II promoter; cellular response to molecule of bacterial origin; labyrinthine layer blood vessel development; canonical Wnt receptor signaling pathway | 2q33.3 |
| FZD6 | multicellular organismal development; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of sequence-specific DNA binding transcription factor activity; inner ear morphogenesis; non-canonical Wnt receptor signaling pathway; cell proliferation in midbrain; gonad development; axonogenesis; G-protein signaling, coupled to cGMP nucleotide second messenger; neural tube closure; establishment of planar polarity; angiogenesis | 8q22.3-q23.1 |
| FZD7 | negative regulation of cell-substrate adhesion; vasculature development; regulation of transcription, DNA-dependent; G-protein signaling, coupled to cGMP nucleotide second messenger; Wnt receptor signaling pathway, calcium modulating pathway; multicellular organismal development; axonogenesis; brain development; gonad development; cellular response to retinoic acid; mesenchymal to epithelial transition; canonical Wnt receptor signaling pathway; positive regulation of epithelial cell proliferation involved in wound healing; somatic stem cell division; positive regulation of JNK cascade; positive regulation of transcription, DNA-dependent; negative regulation of ectodermal cell fate specification; positive regulation of phosphorylation; non-canonical Wnt receptor signaling pathway; regulation of catenin import into nucleus; substrate adhesion-dependent cell spreading; T cell differentiation in thymus; neuron differentiation; stem cell maintenance; satellite cell maintenance involved in skeletal muscle regenerat | 2q33 |
| FZD8 | embryo development; canonical Wnt receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; T cell differentiation in thymus; neuron differentiation; gonad development; brain development; axonogenesis; negative regulation of transcription from RNA polymerase II promoter; positive regulation of protein phosphorylation; vasculature development | 10p11.21 |
| FZD9 | canonical Wnt receptor signaling pathway; vasculature development; nervous system development; neuroblast proliferation; gonad development; learning or memory; brain development; embryo development; B cell differentiation | 7q11.23 |
| FZR1 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; S phase of mitotic cell cycle; mitotic cell cycle; negative regulation of cell aging; protein K11-linked ubiquitination; lens fiber cell differentiation; DNA repair; activation of anaphase-promoting complex activity; mitosis; positive regulation of cell proliferation; cell division; positive regulation of protein catabolic process; regulation of meiosis; G2/M transition DNA damage checkpoint; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; phosphorylation; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle | 19p13.3 |
| G0S2 | cell cycle; cellular lipid metabolic process; small molecule metabolic process | 1q32.2 |
| G2E3 | multicellular organismal development; protein modification process; blastocyst development; protein polyubiquitination; negative regulation of apoptotic process | 14q12 |
| G3BP1 | transport; Ras protein signal transduction | 5q33.1 |
| G3BP2 | cytoplasmic sequestering of NF-kappaB; transport; regulation of small GTPase mediated signal transduction; mRNA transport; Ras protein signal transduction; small GTPase mediated signal transduction | 4q21.1 |
| G6PC2 | regulation of insulin secretion; transmembrane transport; hexose transport; small molecule metabolic process; glucose homeostasis; glucose transport; carbohydrate metabolic process; gluconeogenesis | 2q24.3 |
| G6PC3 | gluconeogenesis; carbohydrate metabolic process; transmembrane transport; glucose 6-phosphate metabolic process; glucose-6-phosphate transport; small molecule metabolic process; glucose transport; hexose transport; dephosphorylation | 17q21.31 |
| G6PD | small molecule metabolic process; lipid metabolic process; cholesterol biosynthetic process; NADPH regeneration; glutathione metabolic process; pentose-phosphate shunt, oxidative branch; negative regulation of protein glutathionylation; pentose biosynthetic process; cellular response to oxidative stress; erythrocyte maturation; ribose phosphate biosynthetic process; glucose 6-phosphate metabolic process; oxidation-reduction process; pentose-phosphate shunt; carbohydrate metabolic process; cytokine production | Xq28 |
| GAA | locomotory behavior; vacuolar sequestering; tissue development; glycogen catabolic process; tongue morphogenesis; muscle cell homeostasis; neuromuscular process controlling posture; neuromuscular process controlling balance; ventricular cardiac muscle tissue morphogenesis; cardiac muscle contraction; lysosome organization; glucose metabolic process; sucrose metabolic process; maltose metabolic process; regulation of the force of heart contraction; diaphragm contraction; heart morphogenesis; carbohydrate metabolic process; muscle organ development | 17q25.2-q25.3 |
| GAB1 | epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; cell proliferation | 4q31.21 |
| GAB2 | phosphatidylinositol-mediated signaling; transmembrane receptor protein tyrosine kinase signaling pathway; positive regulation of mast cell degranulation; osteoclast differentiation; positive regulation of cell proliferation | 11q14.1 |
| GAB3 | - | Xq28 |
| GAB4 | integrin-mediated signaling pathway; cell migration; intracellular signal transduction | 22q11.1 |
| GABARAP | microtubule cytoskeleton organization; protein targeting; apoptotic process; synaptic transmission; protein transport | 17p13.1 |
| GABARAPL1 | - | 12p13.2 |
| GABARAPL2 | protein transport; intra-Golgi vesicle-mediated transport; autophagy; positive regulation of ATPase activity | 16q22.1 |
| GABARAPL3 | - | 15q26.1 |
| GABBR1 | response to nicotine; positive regulation of growth hormone secretion; negative regulation of synaptic transmission; response to ethanol; negative regulation of dopamine secretion; negative regulation of epinephrine secretion; regulation of cAMP biosynthetic process; regulation of glutamate secretion; negative regulation of cell proliferation; synaptic transmission; negative regulation of gamma-aminobutyric acid secretion; gamma-aminobutyric acid signaling pathway; negative regulation of adenylate cyclase activity; osteoblast differentiation | 6p21.31 |
| GABBR2 | G-protein coupled receptor signaling pathway; negative regulation of adenylate cyclase activity; gamma-aminobutyric acid signaling pathway; synaptic transmission | 9q22.1-q22.3 |
| GABPA | positive regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; in utero embryonic development; negative regulation of transcription from RNA polymerase II promoter | 21q21.3 |
| GABPB1 | regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter | 15q21.2 |
| GABPB1-AS1 | - | 15q21.2 |
| GABPB2 | regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 1q21.3 |
| GABRA1 | transport; chloride transport; gamma-aminobutyric acid signaling pathway; synaptic transmission; ion transmembrane transport; transmembrane transport | 5q34 |
| GABRA2 | transmembrane transport; ion transmembrane transport; synaptic transmission; gamma-aminobutyric acid signaling pathway; chloride transport; regulation of neurotransmitter levels; neurotransmitter transport | 4p12 |
| GABRA3 | transport; chloride transport; gamma-aminobutyric acid signaling pathway; synaptic transmission; ion transmembrane transport; transmembrane transport | Xq28 |
| GABRA4 | transmembrane transport; ion transmembrane transport; synaptic transmission; chloride transport; transport; gamma-aminobutyric acid signaling pathway | 4p12 |
| GABRA5 | cochlea development; innervation; inner ear receptor cell development; transmembrane transport; neuroprotection; ion transmembrane transport; associative learning; sensory perception of sound; synaptic transmission; gamma-aminobutyric acid signaling pathway; signal transduction; chloride transport; transport; behavioral fear response; brain development | 15q12 |
| GABRA6 | transport; chloride transport; signal transduction; gamma-aminobutyric acid signaling pathway; synaptic transmission; ion transmembrane transport; transmembrane transport; synaptic transmission, GABAergic | 5q34 |
| GABRB1 | transmembrane transport; ion transmembrane transport; synaptic transmission; signal transduction; chloride transport; transport | 4p12 |
| GABRB2 | transmembrane transport; transport; chloride transport; gamma-aminobutyric acid signaling pathway; synaptic transmission; ion transmembrane transport | 5q34 |
| GABRB3 | transport; chloride transport; signal transduction; synaptic transmission; sensory perception of sound; ion transmembrane transport; neuroprotection; transmembrane transport; inner ear receptor cell development; innervation; cochlea development | 15q12 |
| GABRD | synaptic transmission; signal transduction; ion transport; transport | 1p36.3 |
| GABRE | gamma-aminobutyric acid signaling pathway; ion transport; transport | Xq28 |
| GABRG1 | synaptic transmission; gamma-aminobutyric acid signaling pathway; ion transport | 4p12 |
| GABRG2 | chloride transport; transmembrane transport; ion transmembrane transport; synaptic transmission; gamma-aminobutyric acid signaling pathway; transport | 5q34 |
| GABRG3 | transmembrane transport; response to drug; chloride transport; gamma-aminobutyric acid signaling pathway; synaptic transmission; ion transmembrane transport | 15q12 |
| GABRP | ion transport | 5q35.1 |
| GABRQ | ion transport; signal transduction; neurotransmitter transport | Xq28 |
| GABRR1 | transport; chloride transport; gamma-aminobutyric acid signaling pathway; synaptic transmission; ion transmembrane transport; transmembrane transport | 6q15 |
| GABRR2 | transmembrane transport; transport; chloride transport; signal transduction; gamma-aminobutyric acid signaling pathway; synaptic transmission; visual perception; ion transmembrane transport | 6q15 |
| GABRR3 | gamma-aminobutyric acid signaling pathway; chloride transport; synaptic transmission; ion transmembrane transport; transmembrane transport | 3q11.2 |
| GAD1 | neurotransmitter biosynthetic process; carboxylic acid metabolic process; protein-pyridoxal-5-phosphate linkage; response to drug; glutamate catabolic process; glutamate decarboxylation to succinate; neurotransmitter secretion; synaptic transmission | 2q31 |
| GAD2 | response to drug; neurotransmitter biosynthetic process; carboxylic acid metabolic process; neurotransmitter secretion; synaptic transmission; glutamate decarboxylation to succinate | 10p11.23 |
| GADD45A | regulation of cell cycle; positive regulation of reactive oxygen species metabolic process; cellular response to ionizing radiation; cellular response to mechanical stimulus; signal transduction in response to DNA damage; centrosome cycle; response to stress; apoptotic process; negative regulation of protein kinase activity; DNA repair; G2/M transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; cell cycle arrest | 1p31.2 |
| GADD45B | activation of MAPKKK activity; activation of MAPKK activity; negative regulation of protein kinase activity; apoptotic process; response to stress; multicellular organismal development; cell differentiation; regulation of cell cycle | 19p13.3 |
| GADD45G | activation of MAPKK activity; activation of MAPKKK activity; DNA repair; negative regulation of protein kinase activity; apoptotic process; response to stress; multicellular organismal development; cell differentiation; regulation of cell cycle | 9q22.1-q22.2 |
| GADD45GIP1 | cell cycle; interspecies interaction between organisms | 19p13.2 |
| GADL1 | carboxylic acid metabolic process | 3p24.1-p23 |
| GAFA2 | - | 16q23.2 |
| GAFA3 | - | 4p14 |
| GAGE1 | cellular defense response | Xp11.23 |
| GAGE10 | - | Xp11.23 |
| GAGE2D | - | Xp11.23 |
| GAGE3 | - | Xp11.4-p11.2 |
| GAK | cell cycle | 4p16 |
| GAL | negative regulation of cell proliferation; growth hormone secretion; insulin secretion; response to insulin stimulus; response to drug; positive regulation of apoptotic process; regulation of glucocorticoid metabolic process; feeding behavior; nervous system development; smooth muscle contraction; response to stress; inflammatory response; neuropeptide signaling pathway; negative regulation of lymphocyte proliferation; response to estrogen stimulus | 11q13.3 |
| GAL3ST1 | sphingolipid metabolic process; myelination; small molecule metabolic process; biosynthetic process; spermatogenesis; glycosphingolipid metabolic process; protein N-linked glycosylation; galactosylceramide biosynthetic process | 22q12.2 |
| GAL3ST2 | biosynthetic process | 2q37.3 |
| GAL3ST4 | sulfur compound metabolic process; cell-cell signaling; proteoglycan biosynthetic process; biosynthetic process; glycoprotein metabolic process; oligosaccharide metabolic process | 7q22.1 |
| GALC | carbohydrate metabolic process; glycosphingolipid metabolic process; small molecule metabolic process; galactosylceramide catabolic process; sphingolipid metabolic process | 14q31 |
| GALE | small molecule metabolic process; carbohydrate metabolic process; galactose catabolic process; galactose metabolic process; cellular metabolic process | 1p36-p35 |
| GALK1 | carbohydrate phosphorylation; small molecule metabolic process; galactitol metabolic process; galactose catabolic process; galactose metabolic process; carbohydrate metabolic process | 17q24 |
| GALK2 | carbohydrate phosphorylation; metabolic process; galactose metabolic process; carbohydrate metabolic process | 15q21.1-q21.2 |
| GALM | hexose metabolic process; carbohydrate metabolic process | 2p22.1 |
| GALNS | - | 16q24.3 |
| GALNT1 | O-glycan processing; post-translational protein modification; cellular protein metabolic process; protein O-linked glycosylation via threonine; protein O-linked glycosylation via serine; protein O-linked glycosylation | 18q12.1 |
| GALNT10 | cellular protein metabolic process; post-translational protein modification; O-glycan processing | 5q33.2 |
| GALNT11 | carbohydrate metabolic process; O-glycan processing; post-translational protein modification; cellular protein metabolic process | 7q36.1|7q36.1 |
| GALNT12 | cellular protein metabolic process; post-translational protein modification; O-glycan processing | 9q22.33 |
| GALNT13 | O-glycan processing; post-translational protein modification; cellular protein metabolic process | 2q24.1 |
| GALNT14 | O-glycan processing; cellular protein metabolic process; carbohydrate metabolic process; post-translational protein modification | 2p23.1 |
| GALNT15 | - | 3p25.1 |
| GALNT16 | - | 14q24.1 |
| GALNT18 | - | 11p15.3 |
| GALNT2 | cellular protein metabolic process; post-translational protein modification; protein O-linked glycosylation via threonine; protein O-linked glycosylation via serine; O-glycan processing; immunoglobulin biosynthetic process | 1q41-q42 |
| GALNT3 | carbohydrate metabolic process; O-glycan processing; protein O-linked glycosylation via serine; protein O-linked glycosylation via threonine; post-translational protein modification; cellular protein metabolic process | 2q24-q31 |
| GALNT5 | cellular protein metabolic process; post-translational protein modification; O-glycan processing; glycosaminoglycan biosynthetic process | 2q24.1 |
| GALNT6 | cellular protein metabolic process; post-translational protein modification; O-glycan processing; protein O-linked glycosylation | 12q13 |
| GALNT7 | post-translational protein modification; O-glycan processing; protein O-linked glycosylation; carbohydrate metabolic process; cellular protein metabolic process | 4q31.1 |
| GALNT8 | post-translational protein modification; cellular protein metabolic process; O-glycan processing | 12p13.3 |
| GALNT9 | cellular protein metabolic process; post-translational protein modification; O-glycan processing; protein O-linked glycosylation | 12q24.33 |
| GALNTL5 | - | 7q36.1 |
| GALNTL6 | - | 4q34.1 |
| GALP | neuropeptide signaling pathway; response to insulin stimulus; response to hormone stimulus | 19q13.43 |
| GALR1 | digestion; neuropeptide signaling pathway; negative regulation of adenylate cyclase activity; activation of adenylate cyclase activity by G-protein signaling pathway | 18q23 |
| GALR3 | learning or memory; negative regulation of adenylate cyclase activity; neuropeptide signaling pathway; synaptic transmission; feeding behavior | 22q13.1 |
| GALT | carbohydrate metabolic process; galactose metabolic process; UDP-glucose catabolic process; galactose catabolic process; small molecule metabolic process | 9p13 |
| GAMT | creatine metabolic process; creatine biosynthetic process; muscle contraction; methylation; cellular nitrogen compound metabolic process; small molecule metabolic process | 19p13.3 |
| GAN | cell death | 16q24.1 |
| GANAB | protein N-linked glycosylation via asparagine; carbohydrate metabolic process; protein folding; cellular protein metabolic process; post-translational protein modification | 11q12.3 |
| GANC | carbohydrate metabolic process | 15q15.2 |
| GAP43 | multicellular organismal development; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; nervous system development; response to wounding; cell differentiation; regulation of growth; regulation of filopodium assembly | 3q13.1-q13.2 |
| GAPDH | neuron apoptosis; small molecule metabolic process; peptidyl-cysteine S-trans-nitrosylation; glycolysis; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process; protein stabilization | 12p13 |
| GAPDHP14 | - | 21q22.11 |
| GAPDHP15 | - | 6p11.2 |
| GAPDHP19 | - | Yq11.222 |
| GAPDHP20 | - | 1p35.1 |
| GAPDHP21 | - | 10q21.1 |
| GAPDHP22 | - | 13q32.3 |
| GAPDHP23 | - | 1p12 |
| GAPDHP24 | - | 1q41 |
| GAPDHP25 | - | 2p22.2 |
| GAPDHP26 | - | 9q31.1 |
| GAPDHP27 | - | 1p12 |
| GAPDHP28 | - | 10q23.32 |
| GAPDHP29 | - | 1p21.3 |
| GAPDHP30 | - | 8q22.1 |
| GAPDHP31 | - | 12p13.31 |
| GAPDHP32 | - | 1p12 |
| GAPDHP33 | - | 1p12 |
| GAPDHP35 | - | 16p11.2 |
| GAPDHP37 | - | 22q13.2 |
| GAPDHP38 | - | 19q13.32 |
| GAPDHP39 | - | 3q22.3 |
| GAPDHP40 | - | 5q33.3 |
| GAPDHP44 | - | 12q14.2 |
| GAPDHP46 | - | 1p22.1 |
| GAPDHP53 | - | - |
| GAPDHP54 | - | - |
| GAPDHP55 | - | - |
| GAPDHP58 | - | 1p12 |
| GAPDHP59 | - | 2q32.1 |
| GAPDHP60 | - | 4q22.1 |
| GAPDHP61 | - | 15q22.31 |
| GAPDHP63 | - | 6q14.1 |
| GAPDHP64 | - | 1p13.1 |
| GAPDHP65 | - | Xp11.3 |
| GAPDHP66 | - | 18p11.31 |
| GAPDHP67 | - | Xq26.3 |
| GAPDHP68 | - | 7p21.3 |
| GAPDHP70 | - | 11q14.2 |
| GAPDHP71 | - | 5q35.2 |
| GAPDHP72 | - | 6q27 |
| GAPDHP73 | - | 6q23.3 |
| GAPDHS | sperm motility; spermatid development; glycolysis; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process; small molecule metabolic process; positive regulation of glycolysis | 19q13.12 |
| GAPT | B cell activation | 5q11.2 |
| GAPVD1 | endocytosis; signal transduction; regulation of small GTPase mediated signal transduction; regulation of protein transport | 9q33.3 |
| GAR1 | rRNA processing; snRNA pseudouridine synthesis | 4q25 |
| GAREM1 | - | 18q12.1 |
| GAREM2 | - | 2p23.3 |
| GARNL3 | regulation of small GTPase mediated signal transduction | 9q33.3 |
| GARS | gene expression; diadenosine tetraphosphate biosynthetic process; cell death; glycyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 7p15 |
| GART | biosynthetic process; 'de novo' IMP biosynthetic process; purine nucleotide biosynthetic process; purine base metabolic process; purine base biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; response to organic substance; response to inorganic substance; small molecule metabolic process; organ development; nucleobase-containing small molecule metabolic process | 21q22.11 |
| GAS1 | regulation of apoptotic process; cell cycle; embryonic digit morphogenesis; middle ear morphogenesis; outer ear morphogenesis; cellular response to vascular endothelial growth factor stimulus; dorsal/ventral neural tube patterning; cerebellum morphogenesis; programmed cell death; positive regulation of mesenchymal cell proliferation; negative regulation of protein processing; regulation of smoothened signaling pathway; axon guidance; cell cycle arrest; camera-type eye development; cell fate commitment; negative regulation of smoothened signaling pathway; positive regulation of smoothened signaling pathway; negative regulation of mitotic cell cycle; developmental growth; eye morphogenesis; embryonic cranial skeleton morphogenesis; embryonic skeletal system development; positive regulation of epithelial cell proliferation; negative regulation of epithelial cell proliferation; palate development; regulation of ER to Golgi vesicle-mediated transport | 9q21.3-q22 |
| GAS1RR | - | - |
| GAS2 | regulation of cell shape; apoptotic process; cellular component disassembly involved in apoptosis; cell cycle; cell cycle arrest | 11p14.3 |
| GAS2L1 | negative regulation of cell growth; negative regulation of erythrocyte differentiation; regulation of cell cycle; cellular response to thyroid hormone stimulus; negative regulation of gene expression; cellular response to starvation; cell cycle arrest; negative regulation of microtubule depolymerization; microtubule bundle formation | 22q12.2 |
| GAS2L2 | microtubule bundle formation; negative regulation of microtubule depolymerization; cell cycle arrest | 17q12 |
| GAS2L3 | cell cycle arrest | 12q23.1 |
| GAS5 | - | 1q25.1 |
| GAS5-AS1 | - | - |
| GAS6 | positive regulation of ERK1 and ERK2 cascade; signal transduction; leukocyte migration; positive regulation of fibroblast proliferation; cellular protein metabolic process; post-translational protein modification; regulation of growth; platelet activation; cell proliferation; blood coagulation; peptidyl-glutamic acid carboxylation; proteolysis; platelet degranulation | 13q34 |
| GAS6-AS1 | - | 13q34 |
| GAS6-AS2 | - | 13q34 |
| GAS7 | cell cycle arrest; multicellular organismal development; nervous system development; regulation of cell shape; actin filament polymerization; neuron differentiation; neuron projection morphogenesis; actin filament bundle assembly; regulation of transcription, DNA-dependent | 17p13.1 |
| GAS8 | negative regulation of cell proliferation; sperm motility | 16q24.3 |
| GATA1 | negative regulation of bone mineralization; dendritic cell differentiation; positive regulation of osteoblast proliferation; embryonic hemopoiesis; eosinophil fate commitment; negative regulation of apoptotic process; positive regulation of anti-apoptosis; positive regulation of transcription from RNA polymerase II promoter; erythrocyte development; positive regulation of peptidyl-tyrosine phosphorylation; Sertoli cell development; platelet aggregation; cellular response to cAMP; cellular response to follicle-stimulating hormone stimulus; transcriptional activation by promoter-enhancer looping; eosinophil differentiation; basophil differentiation; platelet formation; megakaryocyte differentiation; erythrocyte differentiation; regulation of definitive erythrocyte differentiation; regulation of glycoprotein biosynthetic process; male gonad development; negative regulation of cell proliferation; blood coagulation; cell-cell signaling; transcription from RNA polymerase II promoter; in utero embryonic development; | Xp11.23 |
| GATA2 | negative regulation of fat cell differentiation; negative regulation of neural precursor cell proliferation; negative regulation of fat cell proliferation; semicircular canal development; definitive hemopoiesis; positive regulation of phagocytosis; homeostasis of number of cells within a tissue; neuron fate commitment; cell maturation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of angiogenesis; negative regulation of Notch signaling pathway; positive regulation of megakaryocyte differentiation; negative regulation of macrophage differentiation; positive regulation of erythrocyte differentiation; negative regulation of myeloid cell differentiation; inner ear morphogenesis; eosinophil fate commitment; regulation of histone acetylation; somatic stem cell maintenance; pituitary gland development; central nervous system neuron development; cell differentiation in hindbrain; ventral spinal cord interneuron differentiation; blood coagulation; transcription, DNA-dependen | 3q21.3 |
| GATA3 | ventricular septum development; cardiac right ventricle morphogenesis; negative regulation of cell motility; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; lymphocyte migration; aortic valve morphogenesis; mesonephros development; kidney development; cell fate determination; negative regulation of transcription from RNA polymerase II promoter; negative regulation of endothelial cell apoptosis; response to virus; negative regulation of fat cell differentiation; positive regulation of T cell differentiation; response to estrogen stimulus; ear development; norepinephrine biosynthetic process; defense response; signal transduction; blood coagulation; negative regulation of cell proliferation; male gonad development; negative regulation of cell cycle; anatomical structure morphogenesis; positive regulation of signal transduction; positive regulation of endothelial cell migration; phosphatidylinositol 3-kinase cascade; TOR signaling cascade; positive regulation of interle | 10p15 |
| GATA3-AS1 | - | 10p14 |
| GATA4 | regulation of transcription, DNA-dependent; response to drug; transcription from RNA polymerase II promoter; cell-cell signaling; spermatogenesis; endoderm development; blood coagulation; male gonad development; positive regulation vascular endothelial growth factor production; signal transduction involved in regulation of gene expression; positive regulation of BMP signaling pathway; response to retinoic acid; embryonic heart tube anterior/posterior pattern specification; response to estrogen stimulus; atrial septum secundum morphogenesis; atrial septum primum morphogenesis; ventricular septum development; ventricular cardiac muscle tissue development; cardiac right ventricle morphogenesis; cardiac ventricle morphogenesis; endocardial cushion development; atrioventricular valve morphogenesis; heart morphogenesis; heart looping; endoderm formation; gastrulation with mouth forming second; in utero embryonic development; Sertoli cell differentiation; epithelial cell fate commitment; cellular response to follicl | 8p23.1-p22 |
| GATA5 | intestinal epithelial cell differentiation; positive regulation of transcription from RNA polymerase II promoter; blood coagulation | 20q13.33 |
| GATA6 | outflow tract septum morphogenesis; liver development; type B pancreatic cell differentiation; pancreatic A cell differentiation; in utero embryonic development; negative regulation of transcription from RNA polymerase II promoter; response to cAMP; positive regulation of cardioblast differentiation; positive regulation of transcription from RNA polymerase II promoter; pancreas development; negative regulation of transforming growth factor beta1 production; negative regulation of transforming growth factor beta2 production; tube morphogenesis; odontogenesis of dentin-containing tooth; response to drug; positive regulation of apoptotic process; negative regulation of apoptotic process; response to estrogen stimulus; positive regulation of angiogenesis; negative regulation of transcription, DNA-dependent; epithelial cell differentiation; organ formation; smooth muscle cell differentiation; positive regulation of BMP signaling pathway; response to toxin; male gonad development; blood coagulation; endodermal cell | 18q11.1-q11.2 |
| GATA6-AS1 | - | 18q11.2 |
| GATAD1 | - | 7q21-q22 |
| GATAD2A | blood vessel development; in utero embryonic development; neural fold formation; DNA methylation; embryonic body morphogenesis; programmed cell death; anterior neuropore closure; negative regulation of transcription, DNA-dependent | 19p13.11 |
| GATAD2B | - | 1q21.3 |
| GATB | translation; glutaminyl-tRNAGln biosynthesis via transamidation; mitochondrial translation | 4q31.3 |
| GATC | mitochondrial translation; glutaminyl-tRNAGln biosynthesis via transamidation; regulation of translational fidelity | 12q24.31 |
| GATM | response to peptide hormone stimulus; small molecule metabolic process; response to mercury ion; tissue regeneration; cellular nitrogen compound metabolic process; response to organic substance; response to nutrient; response to oxidative stress; creatine metabolic process; creatine biosynthetic process; embryo development | 15q21.1 |
| GATS | - | 7q22.1 |
| GATSL1 | - | 7q11.23 |
| GATSL2 | - | 7q11.23 |
| GATSL3 | - | 22q12 |
| GBA | negative regulation of MAP kinase activity; cellular response to tumor necrosis factor; negative regulation of inflammatory response; ceramide biosynthetic process; sphingosine biosynthetic process; small molecule metabolic process; positive regulation of protein dephosphorylation; negative regulation of interleukin-6 production; cell death; carbohydrate metabolic process; lysosome organization; glycosphingolipid metabolic process; glucosylceramide catabolic process; sphingolipid metabolic process; lipid metabolic process; termination of signal transduction | 1q21 |
| GBA2 | small molecule metabolic process; glycosphingolipid metabolic process; glucosylceramide catabolic process; O-glycoside catabolic process; lipid metabolic process; sphingolipid metabolic process; bile acid metabolic process | 9p13.3 |
| GBA3 | glycosylceramide catabolic process; carbohydrate metabolic process; sphingolipid metabolic process; glycosphingolipid metabolic process; glycoside catabolic process; small molecule metabolic process | 4p15.2 |
| GBAP1 | - | 1q21 |
| GBAS | - | 7p12 |
| GBE1 | glycogen metabolic process; small molecule metabolic process; generation of precursor metabolites and energy; glucose metabolic process; glycogen biosynthetic process; carbohydrate metabolic process | 3p12.3 |
| GBF1 | post-Golgi vesicle-mediated transport; COPI coating of Golgi vesicle; regulation of ARF protein signal transduction; cellular membrane organization; retrograde vesicle-mediated transport, Golgi to ER | 10q24 |
| GBGT1 | carbohydrate metabolic process; glycolipid biosynthetic process; metabolic process | 9q34.13-q34.3 |
| GBP1 | cytokine-mediated signaling pathway; interferon-gamma-mediated signaling pathway | 1p22.2 |
| GBP1P1 | - | 1p22.2 |
| GBP2 | interferon-gamma-mediated signaling pathway; immune response; type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway | 1p22.2 |
| GBP3 | - | 1p22.2 |
| GBP4 | - | 1p22.2 |
| GBP5 | cellular response to interferon-gamma | 1p22.2 |
| GBP6 | - | 1p22.2 |
| GBP7 | - | 1p22.2 |
| GBX2 | tube morphogenesis; autonomic nervous system development; inner ear morphogenesis; hindbrain development; cerebellar granule cell precursor proliferation; rhombomere 2 development; midbrain-hindbrain boundary morphogenesis; cell proliferation; axon guidance; nervous system development; regulation of transcription, DNA-dependent; neural crest cell migration; patterning of blood vessels; cerebellum development | 2q37.2 |
| GC | small molecule metabolic process; vitamin transport; vitamin D metabolic process; steroid metabolic process | 4q12-q13 |
| GCA | cellular membrane fusion | 2q24.2 |
| GCAT | biosynthetic process; cellular amino acid metabolic process | 22q13.1 |
| GCATP1 | - | 14q23.2 |
| GCC1 | protein targeting to Golgi | 7q32.1 |
| GCC2 | recycling endosome to Golgi transport; protein targeting to Golgi; protein targeting to lysosome; protein transport; microtubule organizing center organization; protein localization in Golgi apparatus; microtubule anchoring; late endosome to Golgi transport; retrograde transport, endosome to Golgi; Golgi to plasma membrane protein transport; Golgi ribbon formation; regulation of protein exit from endoplasmic reticulum | 2q12.3 |
| GCDH | lysine catabolic process; acyl-CoA metabolic process; fatty acid oxidation; cellular nitrogen compound metabolic process; small molecule metabolic process; fatty-acyl-CoA biosynthetic process | 19p13.2 |
| GCFC2 | negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 2p12 |
| GCG | positive regulation of peptidyl-threonine phosphorylation; signal transduction; protein kinase A signaling cascade; positive regulation of cAMP biosynthetic process; positive regulation of protein binding; negative regulation of appetite; positive regulation of peptidyl-serine phosphorylation; positive regulation of insulin secretion involved in cellular response to glucose stimulus; negative regulation of apoptotic process; small molecule metabolic process; positive regulation of protein kinase activity; regulation of insulin secretion; positive regulation of ERK1 and ERK2 cascade; cellular response to glucagon stimulus; positive regulation of calcium ion import; cell proliferation; feeding behavior; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein coupled receptor signaling pathway; energy reserve metabolic process | 2q36-q37 |
| GCGR | cellular response to glucagon stimulus; generation of precursor metabolites and energy; small molecule metabolic process; hormone-mediated signaling pathway; regulation of blood pressure; response to nutrient; activation of adenylate cyclase activity by G-protein signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; exocytosis; energy reserve metabolic process | 17q25 |
| GCH1 | protein homooligomerization; GTP catabolic process; protein complex assembly; tetrahydrobiopterin biosynthetic process; nitric oxide biosynthetic process; induction of apoptosis; regulation of blood pressure; regulation of lung blood pressure; response to interferon-gamma; protein heterooligomerization; dihydrobiopterin metabolic process; positive regulation of nitric-oxide synthase activity; regulation of nitric-oxide synthase activity; neuromuscular process controlling posture; response to pain; tetrahydrofolate biosynthetic process; nitric oxide metabolic process; negative regulation of blood pressure; small molecule metabolic process; pteridine-containing compound biosynthetic process; dopamine biosynthetic process; vasodilation; response to tumor necrosis factor; response to lipopolysaccharide | 14q22.1-q22.2 |
| GCHFR | protein complex assembly; nitric oxide biosynthetic process; protein heterooligomerization; regulation of nitric-oxide synthase activity; nitric oxide metabolic process; small molecule metabolic process; negative regulation of GTP cyclohydrolase I activity; neurotransmitter metabolic process; negative regulation of biosynthetic process | 15q15 |
| GCKR | regulation of glucose transport; positive regulation of gene expression; response to fructose stimulus; hexose transport; carbohydrate metabolic process; cellular glucose homeostasis; transmembrane transport; triglyceride homeostasis; protein import into nucleus, translocation; glucose transport; negative regulation of glucokinase activity; positive regulation of glucokinase activity; small molecule metabolic process; urate metabolic process | 2p23 |
| GCLC | negative regulation of protein ubiquitination; L-ascorbic acid metabolic process; response to hormone stimulus; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; response to xenobiotic stimulus; regulation of mitochondrial depolarization; response to nitrosative stress; regulation of blood vessel size; response to arsenic-containing substance; negative regulation of transcription, DNA-dependent; cell redox homeostasis; small molecule metabolic process; negative regulation of neuron apoptosis; cellular nitrogen compound metabolic process; response to oxidative stress; anti-apoptosis; xenobiotic metabolic process; response to heat; sulfur amino acid metabolic process; cysteine metabolic process; glutamate metabolic process; glutathione biosynthetic process | 6p12 |
| GCLM | small molecule metabolic process; negative regulation of neuron apoptosis; response to drug; positive regulation of glutamate-cysteine ligase activity; cellular nitrogen compound metabolic process; response to oxidative stress; xenobiotic metabolic process; glutathione biosynthetic process; glutamate metabolic process; cysteine metabolic process; sulfur amino acid metabolic process; response to nitrosative stress; regulation of mitochondrial depolarization; regulation of blood vessel size | 1p22.1 |
| GCM1 | branching involved in embryonic placenta morphogenesis; cell differentiation involved in embryonic placenta development; astrocyte fate commitment; anatomical structure morphogenesis; multicellular organismal development; regulation of transcription, DNA-dependent | 6p12.1 |
| GCM2 | parathyroid gland development; regulation of transcription, DNA-dependent; cellular calcium ion homeostasis; multicellular organismal development; cellular phosphate ion homeostasis | 6p23 |
| GCN1 | regulation of translation; translation | 12q24.2 |
| GCNT1 | protein O-linked glycosylation; cellular protein metabolic process; O-glycan processing; post-translational protein modification | 9q13 |
| GCNT1P1 | - | 20p11.23 |
| GCNT1P2 | - | - |
| GCNT1P3 | - | - |
| GCNT2 | metabolic process; multicellular organismal development; glycosaminoglycan biosynthetic process | 6p24.2 |
| GCNT3 | carbohydrate metabolic process; protein O-linked glycosylation; O-glycan processing; post-translational protein modification; cellular protein metabolic process | 15q21.3 |
| GCNT4 | cellular protein metabolic process; protein O-linked glycosylation; O-glycan processing; homeostasis of number of cells; thyroid hormone metabolic process; post-translational protein modification; tissue morphogenesis; carbohydrate metabolic process; inter-male aggressive behavior; kidney morphogenesis | 5q12 |
| GCNT6 | - | 6p24.2 |
| GCNT7 | - | 20q13.2 |
| GCOM2 | maintenance of ER location | 4q12 |
| GCRG224 | - | 11q13-q14 |
| GCSAM | - | 3q13.2 |
| GCSAML | - | 1q44 |
| GCSH | glycine decarboxylation via glycine cleavage system; glycine catabolic process | 16q23.2 |
| GCSHP3 | - | - |
| GDA | nucleobase-containing compound metabolic process; purine base metabolic process; nervous system development; small molecule metabolic process; nucleobase-containing small molecule metabolic process; purine nucleotide catabolic process | 9q21.13 |
| GDAP1 | response to retinoic acid | 8q21.11 |
| GDAP1L1 | - | 20q12 |
| GDAP2 | response to retinoic acid | 1p12 |
| GDE1 | lipid metabolic process; glycerol metabolic process | 16p12-p11.2 |
| GDF10 | response to transforming growth factor beta stimulus; positive regulation of osteoblast differentiation; ovulation cycle; growth; regulation of ossification; cerebellum development; transforming growth factor beta receptor signaling pathway; skeletal system development | 10q11.22 |
| GDF11 | skeletal system development; metanephros development; ureteric bud development; nervous system development; mesoderm development; negative regulation of cell proliferation; organ morphogenesis; spinal cord anterior/posterior patterning; pancreas development; growth; negative regulation of neuron differentiation; cell maturation; camera-type eye morphogenesis | 12q13.2 |
| GDF15 | signal transduction; transforming growth factor beta receptor signaling pathway; cell-cell signaling | 19p13.11 |
| GDF2 | negative regulation of DNA replication; positive regulation of endothelial cell differentiation; positive regulation of endothelial cell proliferation; pathway-restricted SMAD protein phosphorylation; cartilage development; blood vessel morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of angiogenesis; positive regulation of osteoblast differentiation; negative regulation of endothelial cell proliferation; negative regulation of blood vessel endothelial cell migration; growth; activin receptor signaling pathway; positive regulation of BMP signaling pathway; BMP signaling pathway; negative regulation of cell growth; negative regulation of angiogenesis; vasculogenesis; cellular iron ion homeostasis; negative regulation of endothelial cell migration; positive regulation of pathway-restricted SMAD protein phosphorylation; ossification; patterning of blood vessels | 10q11.22 |
| GDF5 | embryonic limb morphogenesis; positive regulation of chondrocyte differentiation; post-embryonic hindlimb morphogenesis; forelimb morphogenesis; growth; regulation of multicellular organism growth; regulation of apoptotic process; cartilage development; transforming growth factor beta receptor signaling pathway; cell-cell signaling | 20q11.2 |
| GDF6 | positive regulation of pathway-restricted SMAD protein phosphorylation; pathway-restricted SMAD protein phosphorylation; activin receptor signaling pathway; growth; positive regulation of neuron differentiation; BMP signaling pathway; positive regulation of transcription, DNA-dependent | 8q22.1 |
| GDF7 | pathway-restricted SMAD protein phosphorylation; forebrain morphogenesis; gland morphogenesis; branching morphogenesis of a tube; reproductive structure development; morphogenesis of an epithelial fold; positive regulation of transcription, DNA-dependent; positive regulation of neuron differentiation; cell fate commitment; growth; positive regulation of tendon cell differentiation; activin receptor signaling pathway; midbrain development; epithelial cell differentiation; BMP signaling pathway; neural tube development; spinal cord association neuron differentiation; roof plate formation; positive regulation of pathway-restricted SMAD protein phosphorylation; axon guidance | 2p24.1 |
| GDF9 | oocyte growth; transforming growth factor beta receptor signaling pathway; female gamete generation; positive regulation of cell proliferation; negative regulation of cell growth; regulation of progesterone secretion | 5q31.1 |
| GDI1 | signal transduction; small GTPase mediated signal transduction; protein transport; regulation of small GTPase mediated signal transduction | Xq28 |
| GDI2 | protein transport; signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 10p15 |
| GDI2P1 | - | 7p12.3 |
| GDI2P2 | - | - |
| GDNF | enteric nervous system development; axon guidance; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; positive regulation of branching involved in ureteric bud morphogenesis; positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; positive regulation of ureteric bud formation; regulation of morphogenesis of a branching structure; regulation of dopamine uptake; organ induction; postsynaptic membrane organization; anti-apoptosis; signal transduction; nervous system development; metanephros development; adult locomotory behavior; postganglionic parasympathetic nervous system development; peristalsis; neuron projection development; positive regulation of monooxygenase activity; positive regulation of dopamine secretion; negative regulation of neuron apoptosis; positive regulation of transcription from RNA polymerase II promoter; mRNA stabilization; sympathetic nervous system development; ureteric bud development; branching involved in uret | 5p13.1-p12 |
| GDNF-AS1 | - | 5p13.2 |
| GDPD1 | glycerol metabolic process; lipid metabolic process | 17q22 |
| GDPD2 | glycerol metabolic process; lipid metabolic process | Xq13.1 |
| GDPD3 | glycerol metabolic process; lipid metabolic process | 16p11.2 |
| GDPD4 | lipid metabolic process; glycerol metabolic process | 11q13.5 |
| GDPD5 | nervous system development; glycerol metabolic process; lipid metabolic process | 11q13.4-q13.5 |
| GDPGP1 | - | 15q26.1 |
| GEM | immune response; signal transduction; cell surface receptor signaling pathway; small GTPase mediated signal transduction; GTP catabolic process | 8q13-q21 |
| GEMIN2 | gene expression; ncRNA metabolic process; spliceosome assembly; RNA splicing, via transesterification reactions; spliceosomal snRNP assembly; mRNA processing; RNA splicing; RNA metabolic process | 14q13 |
| GEMIN4 | RNA metabolic process; rRNA processing; ncRNA metabolic process; gene expression; RNA splicing; mRNA processing; spliceosomal snRNP assembly | 17p13 |
| GEMIN5 | protein complex assembly; ncRNA metabolic process; RNA metabolic process; gene expression; RNA splicing; spliceosomal snRNP assembly; nuclear mRNA splicing, via spliceosome | 5q33.2 |
| GEMIN6 | gene expression; RNA splicing; nuclear mRNA splicing, via spliceosome; spliceosomal snRNP assembly; spliceosome assembly; RNA metabolic process; ncRNA metabolic process | 2p22.1 |
| GEMIN7 | ncRNA metabolic process; spliceosomal snRNP assembly; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; RNA metabolic process | 19q13.32 |
| GEMIN8 | RNA splicing; mRNA processing; spliceosomal snRNP assembly | Xp22.2 |
| GEMIN8P4 | - | 1p22 |
| GEN1 | DNA repair | 2p24.2 |
| GET4 | transport; tail-anchored membrane protein insertion into ER membrane | 7p22.3 |
| GFAP | regulation of neurotransmitter uptake; long-term synaptic potentiation; Bergmann glial cell differentiation; intermediate filament organization; intermediate filament-based process; neuron projection regeneration; extracellular matrix organization; astrocyte development; negative regulation of neuron projection development; positive regulation of Schwann cell proliferation; response to wounding | 17q21 |
| GFER | spermatogenesis; cell proliferation; oxidation-reduction process | 16p13.3-p13.12 |
| GFI1 | negative regulation of vitamin D biosynthetic process; negative regulation of neuron projection development; viral reproduction; negative regulation of NF-kappaB transcription factor activity; regulation of toll-like receptor signaling pathway; positive regulation of interleukin-6-mediated signaling pathway; cellular response to lipopolysaccharide; negative regulation of calcidiol 1-monooxygenase activity; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription involved in G1/S phase of mitotic cell cycle; negative regulation of transcription, DNA-dependent | 1p22 |
| GFI1B | positive regulation of granulocyte differentiation; positive regulation of histone H3-K9 methylation; chromatin modification; cell proliferation; multicellular organismal development; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription involved in G1 phase of mitotic cell cycle; regulation of erythrocyte differentiation; negative regulation of histone H3-K4 methylation | 9q34.13 |
| GFM1 | GTP catabolic process; mitochondrial translational elongation | 3q25 |
| GFM2 | GTP catabolic process; mitochondrial translation; ribosome disassembly; mitochondrial translational elongation | 5q13 |
| GFOD1 | - | 6pter-p22.1 |
| GFOD1-AS1 | - | - |
| GFOD2 | extracellular matrix organization | 16q22.1 |
| GFPT1 | protein N-linked glycosylation via asparagine; cellular protein metabolic process; post-translational protein modification; endoplasmic reticulum unfolded protein response; carbohydrate biosynthetic process; metabolic process; activation of signaling protein activity involved in unfolded protein response; glutamine metabolic process; dolichol-linked oligosaccharide biosynthetic process; energy reserve metabolic process; UDP-N-acetylglucosamine biosynthetic process; fructose 6-phosphate metabolic process | 2p13 |
| GFPT2 | fructose 6-phosphate metabolic process; UDP-N-acetylglucosamine biosynthetic process; energy reserve metabolic process; dolichol-linked oligosaccharide biosynthetic process; glutamine metabolic process; metabolic process; protein N-linked glycosylation via asparagine; carbohydrate biosynthetic process; post-translational protein modification; cellular protein metabolic process | 5q34-q35 |
| GFRA1 | cell surface receptor signaling pathway; nervous system development; axon guidance; glial cell-derived neurotrophic factor receptor signaling pathway | 10q26.11 |
| GFRA2 | glial cell-derived neurotrophic factor receptor signaling pathway; transmembrane receptor protein tyrosine kinase signaling pathway | 8p21.3 |
| GFRA3 | neuron migration; signal transduction; nervous system development; peripheral nervous system development; sympathetic nervous system development; neuron development | 5q31.1-q31.3 |
| GFRAL | anti-apoptosis; stress-activated protein kinase signaling cascade | 6p12.1 |
| GFY | - | 19q13.33 |
| GGA1 | intracellular protein transport; vesicle-mediated transport | 22q13.31 |
| GGA2 | vesicle-mediated transport; intracellular protein transport | 16p12 |
| GGA3 | vesicle-mediated transport; intracellular protein transport | 17q25.1 |
| GGACT | - | 13q32.3 |
| GGCT | release of cytochrome c from mitochondria; glutathione biosynthetic process; xenobiotic metabolic process; small molecule metabolic process | 7p15-p14 |
| GGCX | cellular protein metabolic process; post-translational protein modification; response to vitamin K; peptidyl-glutamic acid carboxylation; embryo development; blood coagulation; protein modification process | 2p12 |
| GGH | response to zinc ion; response to ethanol; response to drug; response to insulin stimulus; glutamine metabolic process | 8q12.3 |
| GGN | gamete generation; cell differentiation; protein localization; spermatogenesis; multicellular organismal development | 19q13.2 |
| GGNBP1 | mitochondrial fission; multicellular organismal development; spermatogenesis; cell differentiation | 6p21 |
| GGNBP2 | cell differentiation; spermatogenesis; multicellular organismal development | 17q12 |
| GGPS1 | cholesterol biosynthetic process; isoprenoid metabolic process; isoprenoid biosynthetic process; small molecule metabolic process | 1q43 |
| GGT1 | regulation of immune system process; cellular amino acid metabolic process; glutathione metabolic process; glutathione biosynthetic process; xenobiotic metabolic process; spermatogenesis; cysteine biosynthetic process; leukotriene biosynthetic process; small molecule metabolic process; regulation of inflammatory response | 22q11.23 |
| GGT2 | glutathione metabolic process; glutathione biosynthetic process; xenobiotic metabolic process; leukotriene biosynthetic process; small molecule metabolic process | 22q11.21 |
| GGT3P | leukotriene biosynthetic process; glutathione metabolic process; glutathione biosynthetic process | 22q11.21 |
| GGT5 | small molecule metabolic process; leukotriene biosynthetic process; metabolic process; cellular amino acid metabolic process; inflammatory response; prostanoid metabolic process; glutathione metabolic process; glutathione biosynthetic process | 22q11.23 |
| GGT6 | glutathione metabolic process; glutathione biosynthetic process; leukotriene biosynthetic process | 17p13.2 |
| GGT7 | glutathione metabolic process; glutathione biosynthetic process; leukotriene biosynthetic process | 20q11.22 |
| GGT8P | - | 2p11.1 |
| GGTA1P | carbohydrate metabolic process; leukotriene biosynthetic process; glutathione metabolic process | 9q33.2 |
| GGTLC1 | leukotriene biosynthetic process; glutathione metabolic process | 20p11.1 |
| GGTLC2 | leukotriene biosynthetic process; glutathione metabolic process | 22q11.22 |
| GGTLC4P | - | 22q11.23 |
| GH1 | positive regulation of insulin-like growth factor receptor signaling pathway; positive regulation of JAK-STAT cascade; positive regulation of receptor internalization; JAK-STAT cascade; positive regulation of activation of JAK2 kinase activity; positive regulation of phosphatidylinositol 3-kinase cascade; glucose transport; response to estradiol stimulus; positive regulation of multicellular organism growth; positive regulation of MAP kinase activity; positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of peptidyl-tyrosine phosphorylation; growth hormone receptor signaling pathway; JAK-STAT cascade involved in growth hormone signaling pathway; bone maturation | 17q24.2 |
| GHDC | - | 17q21.2 |
| GHET1 | - | 7q36.1 |
| GHITM | apoptotic process | 10q23.1 |
| GHR | creatinine metabolic process; JAK-STAT cascade; positive regulation of JAK-STAT cascade; positive regulation of cell differentiation; multicellular organismal metabolic process; neuroprotection; response to peptide hormone stimulus; response to morphine; activation of JAK2 kinase activity; positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of multicellular organism growth; regulation of multicellular organism growth; cellular response to hormone stimulus; cellular response to insulin stimulus; response to estradiol stimulus; response to food; receptor internalization; taurine metabolic process; hormone-mediated signaling pathway; insulin-like growth factor receptor signaling pathway; activation of MAPK activity; allantoin metabolic process; citrate metabolic process; 2-oxoglutarate metabolic process; succinate metabolic process; oxaloacetate metabolic process; isoleucine metabolic process; valine metabolic pro | 5p13-p12 |
| GHRHR | cell maturation; positive regulation of multicellular organism growth; somatotropin secreting cell development; positive regulation of growth hormone secretion; response to glucocorticoid stimulus; regulation of protein metabolic process; multicellular organismal reproductive process; positive regulation of hormone secretion; response to estrogen stimulus; positive regulation of insulin-like growth factor receptor signaling pathway; hormone metabolic process; G-protein coupled receptor signaling pathway; regulation of intracellular steroid hormone receptor signaling pathway; cellular response to insulin stimulus; response to insulin stimulus; positive regulation of cAMP biosynthetic process; water homeostasis; adenohypophysis development; cAMP-mediated signaling; determination of adult lifespan; positive regulation of cell proliferation; activation of adenylate cyclase activity by G-protein signaling pathway; lactation | 7p14 |
| GHRL | positive regulation of protein tyrosine kinase activity; negative regulation of circadian sleep/wake cycle, REM sleep; hormone-mediated signaling pathway; dendrite development; negative regulation of angiogenesis; positive regulation of cortisol secretion; growth hormone secretion; positive regulation of insulin secretion; positive regulation of appetite; negative regulation of interleukin-1 beta production; negative regulation of locomotion; positive regulation of multicellular organism growth; regulation of cell proliferation; response to hormone stimulus; negative regulation of tumor necrosis factor biosynthetic process; negative regulation of apoptotic process; cortisol secretion; response to estrogen stimulus; negative regulation of interleukin-6 biosynthetic process; positive regulation of circadian sleep/wake cycle, non-REM sleep; negative regulation of insulin secretion; decidualization; negative regulation of inflammatory response; cartilage development; positive regulation of corticotropin secretion | 3p26-p25 |
| GHRLOS | - | 3p25.3 |
| GID4 | - | 17p11.2 |
| GID8 | - | 20q13.33 |
| GIF | cobalamin metabolic process; ion transport; cobalt ion transport; cobalamin transport | 11q13 |
| GIGYF1 | insulin-like growth factor receptor signaling pathway | 7q22 |
| GIGYF2 | cell death | 2q37.1 |
| GIMAP1 | T cell differentiation; B cell differentiation | 7q36.1 |
| GIMAP2 | - | 7q36.1 |
| GIMAP4 | - | 7q36.1 |
| GIMAP5 | negative regulation of nitric oxide biosynthetic process; positive regulation of gamma-delta T cell differentiation; positive regulation of membrane potential; positive regulation of natural killer cell mediated cytotoxicity; regulation of mitochondrial membrane permeability; negative regulation of T cell activation; negative regulation of lipid catabolic process; negative regulation of apoptotic process; T cell homeostasis; myeloid dendritic cell differentiation; positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation; negative regulation of interferon-gamma production; T cell differentiation; positive regulation of calcium ion transport into cytosol; positive regulation of humoral immune response mediated by circulating immunoglobulin; positive regulation of natural killer cell cytokine production; temperature homeostasis | 7q36.1 |
| GIMAP6 | - | - |
| GIMAP7 | - | 7q36.1 |
| GIMAP8 | - | 7q36.1 |
| GIMD1 | - | 4q24 |
| GIN1 | DNA integration | 5q21.1 |
| GINM1 | - | 6q25.1 |
| GINS1 | DNA strand elongation involved in DNA replication; DNA replication; inner cell mass cell proliferation; mitotic cell cycle; S phase of mitotic cell cycle | 20p11.21 |
| GINS2 | S phase of mitotic cell cycle; mitotic cell cycle; DNA replication; DNA strand elongation involved in DNA replication | 16q24.1 |
| GINS3 | DNA replication | 16q21 |
| GINS4 | mitotic cell cycle; DNA replication; DNA strand elongation involved in DNA replication; S phase of mitotic cell cycle | 8p11.21 |
| GIP | response to axon injury; energy reserve metabolic process; triglyceride homeostasis; positive regulation of glucagon secretion; long-term synaptic potentiation; digestive system development; regulation of insulin secretion; small molecule metabolic process; positive regulation of cAMP-mediated signaling; response to peptide hormone stimulus; response to amino acid stimulus; response to starvation; response to drug; positive regulation of insulin secretion; response to organic cyclic compound; positive regulation of glucose transport; response to selenium ion; response to glucose stimulus; response to carbohydrate stimulus; female pregnancy; signal transduction | 17q21.3-q22 |
| GIPC1 | regulation of protein stability; regulation of synaptic plasticity; endothelial cell migration; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of transforming growth factor beta receptor signaling pathway; glutamate secretion; synaptic transmission; G-protein coupled receptor signaling pathway; protein targeting | 19p13.1 |
| GIPC2 | - | 1p31.1 |
| GIPC3 | - | 19p13.3 |
| GIPR | activation of adenylate cyclase activity; response to fatty acid; response to calcium ion; response to axon injury; positive regulation of insulin secretion; positive regulation of cAMP biosynthetic process; response to glucose stimulus; elevation of cytosolic calcium ion concentration; response to nutrient; activation of adenylate cyclase activity by G-protein signaling pathway; cell surface receptor signaling pathway; generation of precursor metabolites and energy; desensitization of G-protein coupled receptor protein signaling pathway | 19q13.3 |
| GIT1 | regulation of G-protein coupled receptor protein signaling pathway; regulation of ARF GTPase activity | 17p11.2 |
| GIT2 | regulation of ARF GTPase activity; regulation of G-protein coupled receptor protein signaling pathway | 12q24.1 |
| GJA1 | positive regulation of protein catabolic process; response to peptide hormone stimulus; positive regulation of I-kappaB kinase/NF-kappaB cascade; ion transmembrane transport; gap junction assembly; cellular membrane organization; ATP transport; vascular transport; response to pH; negative regulation of cell proliferation; heart development; cell-cell signaling; signal transduction; muscle contraction; apoptotic process; transport; protein oligomerization; neuron projection morphogenesis; regulation of calcium ion transport | 6q22.31 |
| GJA1P1 | - | 5q21.3 |
| GJA3 | transport; cell-cell signaling; visual perception; response to pH; response to hydrogen peroxide | 13q12.11 |
| GJA4 | transport; response to pain; cell-cell signaling; cell communication; cell-cell junction assembly; calcium ion transport; blood vessel development | 1p35.1 |
| GJA5 | embryonic heart tube development; embryonic limb morphogenesis; cell-cell signaling; cell-cell junction assembly; muscle contraction; transport; blood vessel development; angiogenesis; skeletal system development | 1q21.1 |
| GJA6P | - | Xp22 |
| GJA8 | lens development in camera-type eye; transport; cell communication; visual perception | 1q21.1 |
| GJA9 | cell communication | 1p34 |
| GJB1 | transport; protein oligomerization; gap junction assembly; cellular membrane organization; purine ribonucleotide transport; nervous system development; cell-cell signaling | Xq13.1 |
| GJB2 | gap junction assembly; transport; cell-cell signaling; sensory perception of sound; cellular membrane organization; male genitalia development | 13q11-q12 |
| GJB3 | in utero embryonic development; placenta development; cell communication; sensory perception of sound; skin development | 1p34 |
| GJB4 | cell communication; sensory perception of smell; olfactory behavior | 1p34.3 |
| GJB5 | labyrinthine layer morphogenesis; cell communication; epidermis development; spongiotrophoblast differentiation | 1p35.1 |
| GJB6 | ear morphogenesis; sensory perception of sound; cell communication | 13q12 |
| GJB7 | cell communication | 6q15 |
| GJC1 | cellular membrane organization; cardiac muscle tissue development; cell development; gap junction assembly; visual perception; synaptic transmission; cell-cell junction assembly; muscle contraction; transport; vasculogenesis | 17q21.31 |
| GJC2 | cell-cell signaling; response to toxin; cell death; transmembrane transport | 1q42.13 |
| GJC3 | cell communication; sensory perception of sound; myelination | 7q22.1 |
| GJD3 | cell communication; gap junction assembly | 17q21.2 |
| GJD4 | cell communication | 10p11.21 |
| GK | glycerol metabolic process; carbohydrate metabolic process; triglyceride metabolic process; triglyceride biosynthetic process; cellular lipid metabolic process; glycerol-3-phosphate biosynthetic process; small molecule metabolic process | Xp21.3 |
| GK3P | - | 4q32.1 |
| GK5 | glycerol metabolic process; carbohydrate metabolic process | 3q23 |
| GKAP1 | signal transduction | 9q21.32 |
| GKN1 | digestion; positive regulation of cell division; positive regulation of cell proliferation | 2p13.3 |
| GKN2 | - | 2p13.3 |
| GLA | glycosphingolipid metabolic process; sphingolipid metabolic process; oligosaccharide metabolic process; glycoside catabolic process; small molecule metabolic process; negative regulation of nitric oxide biosynthetic process; glycosylceramide catabolic process; glycosphingolipid catabolic process; negative regulation of nitric-oxide synthase activity | Xq22 |
| GLB1 | galactose catabolic process; small molecule metabolic process; glycosphingolipid metabolic process; sphingolipid metabolic process; carbohydrate metabolic process | 3p21.33 |
| GLB1L | carbohydrate metabolic process | 2q35 |
| GLB1L2 | carbohydrate metabolic process | 11q25 |
| GLB1L3 | carbohydrate metabolic process | 11q25 |
| GLCCI1 | - | 7p21.3 |
| GLCE | heparin biosynthetic process; heparan sulfate proteoglycan biosynthetic process | 15q23 |
| GLDC | cellular amino acid metabolic process; glycine catabolic process | 9p22 |
| GLDN | nervous system development; cell differentiation; multicellular organismal development | 15q21.2 |
| GLE1 | mRNA export from nucleus; protein transport; poly(A)+ mRNA export from nucleus | 9q34.11 |
| GLG1 | bone morphogenesis; negative regulation of protein processing; negative regulation of transforming growth factor beta receptor signaling pathway; regulation of chondrocyte differentiation | 16q22.3 |
| GLI1 | negative regulation of canonical Wnt receptor signaling pathway; digestive tract morphogenesis; osteoblast differentiation; smoothened signaling pathway; multicellular organismal development; positive regulation of cell proliferation; epidermal cell differentiation; positive regulation of DNA replication; positive regulation of smoothened signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; regulation of smoothened signaling pathway | 12q13.2-q13.3 |
| GLI2 | embryonic digestive tract development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of DNA replication; positive regulation of neuron differentiation; odontogenesis of dentin-containing tooth; tube development; positive regulation of T cell differentiation in thymus; negative regulation of chondrocyte differentiation; hindbrain development; mammary gland development; developmental growth; neuron development; branching morphogenesis of a tube; notochord regression; head development; prostatic bud formation; mammary gland duct morphogenesis; smoothened signaling pathway involved in dorsal/ventral neural tube patterning; cellular response to organic cyclic compound; cochlea morphogenesis; embryonic digit morphogenesis; kidney development; heart development; hindgut morphogenesis; ventral midline development; axon guidance; skeletal system development; lung development; osteoblast differentiation; in utero embryonic | 2q14 |
| GLI3 | neuron fate commitment; anatomical structure formation involved in morphogenesis; camera-type eye morphogenesis; developmental growth; embryonic digestive tract development; embryonic digestive tract morphogenesis; negative regulation of alpha-beta T cell differentiation; positive regulation of alpha-beta T cell differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of smoothened signaling pathway; anterior semicircular canal development; positive regulation of osteoblast differentiation; embryonic skeletal system morphogenesis; oligodendrocyte differentiation; inner ear development; palate development; frontal suture morphogenesis; lambdoid suture morphogenesis; sagittal suture morphogenesis; mammary gland specification; smoothened signaling pathway involved in dorsal/ventral neural tube patterning; artery development; lateral semicircular canal develop | 7p13 |
| GLI4 | - | 8q24.3 |
| GLIDR | - | 9q21.11 |
| GLIPR1 | cellular lipid metabolic process; small molecule metabolic process | 12q21.2 |
| GLIPR1L1 | - | 12q21.2 |
| GLIPR1L2 | - | 12q21.2 |
| GLIPR2 | - | 9p13.3 |
| GLIS1 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter | 1p32.3 |
| GLIS2 | multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; nervous system development; cell differentiation; negative regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of smoothened signaling pathway | 16p13.3 |
| GLIS3 | negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter | 9p24.2 |
| GLIS3-AS1 | - | 9p24.2 |
| GLMN | positive regulation of cytokine secretion; positive regulation of phosphorylation; negative regulation of T cell proliferation; regulation of gene expression, epigenetic; vasculogenesis; muscle cell differentiation; positive regulation of interleukin-2 biosynthetic process | 1p22.1 |
| GLMP | intracellular receptor mediated signaling pathway; positive regulation of transcription from RNA polymerase II promoter; regulation of RNA biosynthetic process | 1q22 |
| GLO1 | metabolic process; carbohydrate metabolic process; glutathione metabolic process; anti-apoptosis; methylglyoxal metabolic process | 6p21.3-p21.1 |
| GLOD4 | - | 17p13.3 |
| GLOD5 | - | Xp11.23 |
| GLP1R | positive regulation of calcium ion transport via voltage-gated calcium channel activity; neuroprotection; release of sequestered calcium ion into cytosol; regulation of insulin secretion; positive regulation of transcription from RNA polymerase II promoter; feeding behavior; positive regulation of heart contraction; positive regulation of insulin secretion; cAMP-mediated signaling; response to glucose stimulus; associative learning; positive regulation of cell proliferation; memory; elevation of cytosolic calcium ion concentration; activation of adenylate cyclase activity; activation of adenylate cyclase activity by G-protein signaling pathway; energy reserve metabolic process; negative regulation of apoptotic process; small molecule metabolic process; positive regulation of cell differentiation; positive regulation of blood pressure | 6p21 |
| GLP2R | positive regulation of cell proliferation; G-protein signaling, coupled to cAMP nucleotide second messenger | 17p13.3 |
| GLRA1 | synaptic transmission, glycinergic; positive regulation of acrosome reaction; regulation of inhibitory postsynaptic membrane potential; righting reflex; negative regulation of transmission of nerve impulse; regulation of action potential; startle response; regulation of respiratory gaseous exchange by neurological system process; ion transport; chloride transport; muscle contraction; neuropeptide signaling pathway; synaptic transmission; visual perception; adult walking behavior; ion transmembrane transport; regulation of membrane potential; regulation of respiratory gaseous exchange; neuromuscular process controlling posture; transmembrane transport | 5q32 |
| GLRA2 | transmembrane transport; ion transmembrane transport; synapse assembly; neuropeptide signaling pathway; ion transport | Xp22.2 |
| GLRA3 | synaptic transmission; ion transmembrane transport; transmembrane transport | 4q34.1 |
| GLRA4 | ion transport | Xq22.2 |
| GLRB | ion transmembrane transport; righting reflex; synaptic transmission, glycinergic; startle response; ion transport; neuropeptide signaling pathway; synaptic transmission; acrosome reaction; nervous system development; visual perception; adult walking behavior; regulation of membrane potential; protein heterooligomerization; transmembrane transport | 4q31.3 |
| GLRX | transport; nucleobase-containing small molecule interconversion; electron transport chain; small molecule metabolic process; cell redox homeostasis; nucleobase-containing small molecule metabolic process | 5q14 |
| GLRX2 | regulation of transcription, DNA-dependent; DNA protection; glutathione metabolic process; protein thiol-disulfide exchange; cell differentiation; electron transport chain; transport; response to organic substance; regulation of signal transduction; response to hydrogen peroxide; cell redox homeostasis; response to redox state; response to temperature stimulus; apoptotic process | 1q31.2 |
| GLRX3 | cell redox homeostasis; negative regulation of cardiac muscle hypertrophy; regulation of the force of heart contraction | 10q26 |
| GLRX5 | cell redox homeostasis; hemopoiesis | 14q32.13 |
| GLRXP3 | - | 5q34 |
| GLS | regulation of respiratory gaseous exchange by neurological system process; small molecule metabolic process; cellular nitrogen compound metabolic process; glutamate secretion; cellular amino acid biosynthetic process; behavior; neurotransmitter secretion; synaptic transmission; glutamine catabolic process; glutamate biosynthetic process | 2q32-q34 |
| GLS2 | cellular amino acid metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; glutamine metabolic process; glutamate secretion; cellular amino acid biosynthetic process; synaptic transmission; neurotransmitter secretion | 12q13 |
| GLT1D1 | biosynthetic process | 12q24.33 |
| GLT8D1 | - | 3p21.1 |
| GLT8D2 | - | 12q |
| GLTP | transport; glycolipid transport | 12q24.11 |
| GLTPD2 | - | 17p13.2 |
| GLTSCR1 | - | 19q13.3 |
| GLTSCR1L | - | 6p21.1 |
| GLUD1 | positive regulation of insulin secretion; glutamate catabolic process; glutamate biosynthetic process; cellular amino acid biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 10q23.3 |
| GLUD1P3 | - | 10q22.2 |
| GLUD1P4 | - | 18q21.32 |
| GLUD1P5 | - | 10p11.2 |
| GLUD1P7 | - | 10q11.22 |
| GLUD2 | cellular amino acid metabolic process; glutamate metabolic process; glutamate biosynthetic process; glutamate catabolic process; oxidation-reduction process | Xq24-q25 |
| GLUL | cellular amino acid biosynthetic process; neurotransmitter uptake; glutamate catabolic process; glutamine biosynthetic process; synaptic transmission; small molecule metabolic process; cellular nitrogen compound metabolic process; response to glucose stimulus; cell proliferation | 1q31 |
| GLULP2 | - | 11p15.4 |
| GLULP3 | - | 11q24.1 |
| GLULP4 | - | 9p13.3 |
| GLULP6 | - | 2q32.3 |
| GLYAT | response to toxin; xenobiotic metabolic process; acyl-CoA metabolic process; small molecule metabolic process | 11q12.1 |
| GLYATL1P1 | - | 11q12.1 |
| GLYATL1P2 | - | 11q12.1 |
| GLYATL2 | - | 11q12.1 |
| GLYCTK | protein phosphorylation | 3p21.1 |
| GLYR1 | pentose-phosphate shunt | 16p13.3 |
| GM140 | - | 1q25.3 |
| GM2A | sphingolipid catabolic process; lipid metabolic process; sphingolipid metabolic process; glycosphingolipid metabolic process; ganglioside catabolic process; learning or memory; oligosaccharide catabolic process; glycolipid catabolic process; lipid storage; small molecule metabolic process; neurological system process; neuromuscular process controlling balance | 5q33.1 |
| GMCL1 | regulation of transcription, DNA-dependent; cell differentiation; spermatogenesis; multicellular organismal development | 2p13.3 |
| GMDS | GDP-mannose metabolic process; cellular metabolic process; 'de novo' GDP-L-fucose biosynthetic process; Notch signaling pathway | 6p25 |
| GMDS-AS1 | - | - |
| GMEB1 | - | 1p35.3 |
| GMEB2 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 20q13.33 |
| GMFB | positive regulation of catalytic activity; nervous system development; signal transduction; protein phosphorylation | 14q22.2 |
| GMFBP1 | - | 3q12.2 |
| GMFG | positive regulation of catalytic activity; protein phosphorylation | 19q13.2 |
| GMIP | regulation of small GTPase mediated signal transduction; intracellular signal transduction; negative regulation of Rho GTPase activity; positive regulation of Rho GTPase activity; small GTPase mediated signal transduction | 19p13.11 |
| GMNC | DNA replication; cell cycle; cell proliferation | 3q28 |
| GMNN | negative regulation of transcription, DNA-dependent; negative regulation of cell cycle; organ morphogenesis; negative regulation of DNA replication; protein complex assembly; mitotic cell cycle; M/G1 transition of mitotic cell cycle | 6p22.3 |
| GMPPA | post-translational protein modification; dolichol-linked oligosaccharide biosynthetic process; biosynthetic process; GDP-mannose biosynthetic process; protein N-linked glycosylation via asparagine; cellular protein metabolic process | 2q35 |
| GMPPB | protein N-linked glycosylation via asparagine; cellular protein metabolic process; GDP-mannose biosynthetic process; biosynthetic process; dolichol-linked oligosaccharide biosynthetic process; post-translational protein modification | 3p21.31 |
| GMPR | purine-containing compound salvage; nucleobase-containing small molecule metabolic process; small molecule metabolic process; response to cold; nucleotide metabolic process; purine base metabolic process | 6p23 |
| GMPR2 | small molecule metabolic process; purine base metabolic process; nucleobase-containing small molecule metabolic process; nucleotide metabolic process; purine-containing compound salvage | 14q12 |
| GMPS | purine base metabolic process; purine nucleotide biosynthetic process; GMP biosynthetic process; glutamine metabolic process; purine base biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 3q24 |
| GMPSP1 | - | 4p16.1 |
| GNA11 | heart development; G-protein coupled receptor signaling pathway; signal transduction; protein ADP-ribosylation; GTP catabolic process; G-protein signaling, coupled to cAMP nucleotide second messenger; regulation of action potential; skeletal system development; blood coagulation; platelet activation; regulation of melanocyte differentiation; developmental pigmentation; activation of phospholipase C activity by dopamine receptor signaling pathway | 19p13.3 |
| GNA12 | blood coagulation; in utero embryonic development; GTP catabolic process; signal transduction; G-protein coupled receptor signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; intracellular protein kinase cascade; embryonic digit morphogenesis; response to drug; platelet activation; cell differentiation; regulation of cell shape; Rho protein signal transduction | 7p22.2 |
| GNA13 | activation of phospholipase D activity; Rho protein signal transduction; intracellular protein kinase cascade; activation of adenylate cyclase activity by G-protein signaling pathway; regulation of cell migration; platelet activation; cell differentiation; regulation of cell shape; blood coagulation; G-protein coupled receptor signaling pathway; signal transduction; cellular component movement; GTP catabolic process; in utero embryonic development; patterning of blood vessels | 17q24.3 |
| GNA14 | activation of phospholipase C activity by dopamine receptor signaling pathway; GTP catabolic process; protein ADP-ribosylation; signal transduction; G-protein coupled receptor signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; blood coagulation; platelet activation | 9q21 |
| GNA15 | blood coagulation; GTP catabolic process; protein ADP-ribosylation; signal transduction; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of phospholipase C activity; elevation of cytosolic calcium ion concentration; activation of phospholipase C activity by G-protein coupled acetylcholine receptor signaling pathway; platelet activation; activation of phospholipase C activity by dopamine receptor signaling pathway; inositol trisphosphate metabolic process | 19p13.3 |
| GNAI1 | signal transduction; cell cycle; GTP catabolic process; cell division; platelet activation; blood coagulation; synaptic transmission; inhibition of adenylate cyclase activity by G-protein signaling pathway; G-protein coupled receptor signaling pathway | 7q21 |
| GNAI2 | negative regulation of synaptic transmission; cell division; negative regulation of calcium ion transport via voltage-gated calcium channel activity; activation of MAPKK activity; positive regulation of cell proliferation; adenosine receptor signaling pathway; GTP catabolic process; cell cycle; signal transduction; G-protein coupled receptor signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; negative regulation of adenylate cyclase activity; G-protein coupled acetylcholine receptor signaling pathway; gamma-aminobutyric acid signaling pathway; intracellular protein kinase cascade; synaptic transmission; platelet activation; response to nutrient; blood coagulation | 3p21.31 |
| GNAI2P1 | - | 12p13.1 |
| GNAI3 | blood coagulation; platelet activation; negative regulation of synaptic transmission; cell division; synaptic transmission; negative regulation of adenylate cyclase activity; inhibition of adenylate cyclase activity by G-protein signaling pathway; G-protein coupled receptor signaling pathway; signal transduction; cell cycle; vesicle fusion; transport; GTP catabolic process | 1p13 |
| GNAL | G-protein coupled receptor signaling pathway; response to caffeine; sensory perception of smell; synaptic transmission; inhibition of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity by dopamine receptor signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; signal transduction; GTP catabolic process; cAMP biosynthetic process; response to amphetamine | 18p11.22-p11.21 |
| GNAO1 | dopamine receptor signaling pathway; negative regulation of calcium ion transport; positive regulation of GTPase activity; response to morphine; response to drug; GTP catabolic process; muscle contraction; G-protein signaling, coupled to cAMP nucleotide second messenger; aging; locomotory behavior; regulation of heart contraction; cellular process; response to organic nitrogen; response to organic cyclic compound; forebrain development; neuron projection development; response to cytokine stimulus; response to hydrogen peroxide | 16q13 |
| GNAQ | post-embryonic development; activation of phospholipase C activity by dopamine receptor signaling pathway; protein stabilization; developmental pigmentation; regulation of melanocyte differentiation; positive regulation of GTPase activity; regulation of catenin import into nucleus; embryonic digit morphogenesis; behavior; blood coagulation; heart development; glutamate receptor signaling pathway; activation of phospholipase C activity; activation of adenylate cyclase activity by G-protein signaling pathway; G-protein coupled receptor signaling pathway; negative regulation of protein kinase activity; GTP catabolic process; regulation of action potential; skeletal system development; neuron remodeling; forebrain neuron development; platelet activation; protein ADP-ribosylation | 9q21 |
| GNAQP1 | - | 2q21.1 |
| GNAS | small molecule metabolic process; response to drug; positive regulation of osteoblast differentiation; positive regulation of osteoclast differentiation; intracellular transport; embryonic cranial skeleton morphogenesis; regulation of insulin secretion; cartilage development; transmembrane transport; cellular response to glucagon stimulus; genetic imprinting; post-embryonic body morphogenesis; tissue homeostasis; endochondral ossification; energy reserve metabolic process; cAMP biosynthetic process; GTP catabolic process; DNA methylation; water transport; G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity; activation of adenylate cyclase activity by dopamine receptor signaling pathway; female pregnancy; blood coagulation; sensory perception of chemical stimulus; sensory perception of smell; behavior; protein secretion; post-embryonic development; embryonic hindlimb morphogenesis; multicellular organism growth; skin development | 20q13.3 |
| GNAS-AS1 | - | 20q13.32 |
| GNAT1 | cellular response to electrical stimulus; retina development in camera-type eye; negative regulation of cyclic-nucleotide phosphodiesterase activity; positive regulation of cyclic-nucleotide phosphodiesterase activity; detection of light stimulus involved in visual perception; detection of chemical stimulus involved in sensory perception of bitter taste; sensory perception of umami taste; GTP catabolic process; signal transduction; G-protein coupled receptor signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; visual perception; phototransduction, visible light; cell proliferation; response to light stimulus; rhodopsin mediated phototransduction; response to light intensity; response to stimulus; eye photoreceptor cell development | 3p21 |
| GNAT2 | retinal cone cell development; rhodopsin mediated phototransduction; detection of visible light; response to light intensity; phototransduction; visual perception; elevation of cytosolic calcium ion concentration; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein coupled receptor signaling pathway; GTP catabolic process; detection of chemical stimulus involved in sensory perception of bitter taste; detection of light stimulus involved in visual perception; response to stimulus | 1p13.1 |
| GNAT3 | sensory perception of umami taste; sensory perception of sweet taste; response to nicotine; rhodopsin mediated phototransduction; G-protein signaling, coupled to cAMP nucleotide second messenger; detection of chemical stimulus involved in sensory perception of bitter taste; GTP catabolic process; G-protein coupled receptor signaling pathway | 7q21.11 |
| GNAZ | inhibition of adenylate cyclase activity by G-protein signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein coupled receptor signaling pathway; GTP catabolic process | 22q11.22 |
| GNB1 | cell proliferation; cellular response to glucagon stimulus; retina development in camera-type eye; sensory perception of taste; small molecule metabolic process; platelet activation; blood coagulation; synaptic transmission; Ras protein signal transduction; G-protein coupled acetylcholine receptor signaling pathway; elevation of cytosolic calcium ion concentration; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; signal transduction; GTP catabolic process; energy reserve metabolic process | 1p36.33 |
| GNB1L | social behavior; G-protein coupled receptor signaling pathway; intracellular signal transduction | 22q11.2 |
| GNB2 | small molecule metabolic process; energy reserve metabolic process; GTP catabolic process; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration; synaptic transmission; cellular response to glucagon stimulus | 7q22 |
| GNB3 | cellular response to glucagon stimulus; energy reserve metabolic process; GTP catabolic process; G-protein coupled receptor signaling pathway; synaptic transmission; small molecule metabolic process; regulation of blood pressure | 12p13 |
| GNB4 | cellular response to glucagon stimulus; small molecule metabolic process; energy reserve metabolic process | 3q26.33 |
| GNB5 | G-protein coupled receptor signaling pathway; signal transduction; GTP catabolic process | 15q21.2 |
| GNE | carbohydrate metabolic process; UDP-N-acetylglucosamine metabolic process; N-acetylneuraminate metabolic process; cell adhesion; lipopolysaccharide biosynthetic process | 9p13.3 |
| GNG10 | signal transduction; GTP catabolic process; energy reserve metabolic process; G-protein coupled receptor signaling pathway; synaptic transmission; small molecule metabolic process; cellular response to glucagon stimulus | 9q31.3 |
| GNG11 | small molecule metabolic process; energy reserve metabolic process; GTP catabolic process; signal transduction; G-protein coupled receptor signaling pathway; cellular response to glucagon stimulus | 7q21 |
| GNG12 | response to lipopolysaccharide; small molecule metabolic process; cellular response to glucagon stimulus; cerebral cortex development; energy reserve metabolic process; signal transduction; G-protein coupled receptor signaling pathway; synaptic transmission | 1p31.3 |
| GNG12-AS1 | - | 1p31.3 |
| GNG13 | small molecule metabolic process; energy reserve metabolic process; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; sensory perception of taste; cellular response to glucagon stimulus | 16p13.3 |
| GNG2 | energy reserve metabolic process; G-protein coupled receptor signaling pathway; synaptic transmission; platelet activation; cell proliferation; blood coagulation; cellular response to glucagon stimulus; small molecule metabolic process | 14q21 |
| GNG3 | activation of MAPK activity; energy reserve metabolic process; GTP catabolic process; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration; synaptic transmission; small molecule metabolic process; cellular response to glucagon stimulus | 11p11 |
| GNG4 | synaptic transmission; cellular response to glucagon stimulus; small molecule metabolic process; negative regulation of cell growth; regulation of G-protein coupled receptor protein signaling pathway; energy reserve metabolic process | 1q42.3 |
| GNG5 | small molecule metabolic process; synaptic transmission; G-protein coupled receptor signaling pathway; signal transduction; GTP catabolic process; energy reserve metabolic process; cellular response to glucagon stimulus | 1p22 |
| GNG5P2 | - | Xq23 |
| GNG5P3 | - | 11q23.1 |
| GNG5P5 | - | 13q14.2 |
| GNG7 | behavioral fear response; energy reserve metabolic process; receptor guanylyl cyclase signaling pathway; synaptic transmission; locomotory behavior; cellular response to glucagon stimulus; regulation of G-protein coupled receptor protein signaling pathway; small molecule metabolic process; regulation of adenylate cyclase activity | 19p13.3 |
| GNGT1 | eye photoreceptor cell development; cellular response to hypoxia; cardiac muscle cell apoptosis; protein localization; phototransduction; synaptic transmission; G-protein coupled receptor signaling pathway; signal transduction; GTP catabolic process | 7q21.3 |
| GNGT2 | phototransduction; synaptic transmission; G-protein coupled receptor signaling pathway; GTP catabolic process | 17q21 |
| GNL1 | response to DNA damage stimulus; signal transduction; T cell mediated immunity | 6p21.3 |
| GNL2 | ribosome biogenesis; GTP catabolic process | 1p34.3 |
| GNL3 | regulation of cell proliferation | 3p21.1 |
| GNL3L | ribosome biogenesis | Xp11.22 |
| GNL3LP1 | - | 5q12.1 |
| GNLY | defense response to bacterium; cellular defense response; killing of cells of other organism; defense response to fungus | 2p11.2 |
| GNMT | protein homotetramerization; protein modification process; methionine metabolic process; regulation of gluconeogenesis; glycogen metabolic process; S-adenosylhomocysteine metabolic process; S-adenosylmethionine metabolic process | 6p12 |
| GNPAT | response to nutrient; response to fatty acid; small molecule metabolic process; cellular lipid metabolic process; response to starvation; myelination; response to drug; paranodal junction assembly; cerebellum morphogenesis; cellular membrane organization; phospholipid biosynthetic process; ether lipid biosynthetic process; metabolic process; synapse assembly | 1q42 |
| GNPATP | - | 16q21 |
| GNPDA1 | generation of precursor metabolites and energy; single fertilization; N-acetylglucosamine metabolic process; glucosamine catabolic process; carbohydrate metabolic process | 5q21 |
| GNPDA2 | carbohydrate metabolic process; N-acetylglucosamine metabolic process | 4p12 |
| GNPNAT1 | protein N-linked glycosylation via asparagine; liver development; N-acetylglucosamine metabolic process; UDP-N-acetylglucosamine biosynthetic process; cellular protein metabolic process; post-translational protein modification; dolichol-linked oligosaccharide biosynthetic process | 14q22.1 |
| GNPTAB | cell differentiation; carbohydrate phosphorylation; protein secretion | 12q23.2 |
| GNPTG | - | 16p13.3 |
| GNRH1 | negative regulation of cell proliferation; female pregnancy; multicellular organismal development; cell-cell signaling; regulation of gene expression; response to corticosteroid stimulus; ovulation cycle; signal transduction; anti-apoptosis; response to ethanol | 8p21-p11.2 |
| GNRH2 | signal transduction; multicellular organismal development | 20p13 |
| GNRHR | cellular response to gonadotropin-releasing hormone; negative regulation of cell proliferation; multicellular organismal development; G-protein coupled receptor signaling pathway | 4q21.2 |
| GNRHR2 | - | 1q12 |
| GNRHR2P1 | - | 14q23.1 |
| GNS | glycosaminoglycan catabolic process; keratan sulfate catabolic process | 12q14 |
| GOLGA1 | protein targeting to Golgi | 9q33.3 |
| GOLGA2 | positive regulation of axonogenesis; Golgi localization | 9q34.11 |
| GOLGA2P1 | - | 8q21.3 |
| GOLGA2P10 | - | 15q25.2 |
| GOLGA2P4 | - | - |
| GOLGA2P5 | - | 12q23.1 |
| GOLGA2P7 | - | 15q25.2 |
| GOLGA2P9 | - | 19p12 |
| GOLGA3 | intra-Golgi vesicle-mediated transport | 12q24.33 |
| GOLGA4 | vesicle-mediated transport; protein targeting to Golgi; Golgi to plasma membrane protein transport | 3p22-p21.3 |
| GOLGA5 | retrograde transport, vesicle recycling within Golgi; Golgi organization; Golgi vesicle transport | 14q32.12 |
| GOLGA6L10 | - | 15q25.2 |
| GOLGA6L16P | - | Yq11.23 |
| GOLGA6L2 | - | 15q11.2 |
| GOLGA6L3 | - | 15q25.3 |
| GOLGA6L5P | - | 15q25.2 |
| GOLGA6L7P | - | 15q13.1 |
| GOLGA6L9 | - | 15q25.2 |
| GOLGA7 | - | 8p11.21 |
| GOLGA7B | - | 10q24.2 |
| GOLGA8A | - | 15q11.2 |
| GOLGA8F | - | 15q13.1 |
| GOLGA8H | - | 15q13.2 |
| GOLGA8J | - | 15q13.2 |
| GOLGA8M | - | 15q13.1 |
| GOLGA8O | - | 15q13.3 |
| GOLGA8Q | - | 15q13.2 |
| GOLGA8R | - | 15q13.2 |
| GOLGA8S | - | 15q11.2 |
| GOLGA8UP | - | - |
| GOLGB1 | Golgi organization | 3q13 |
| GOLIM4 | transport | 3q26.2 |
| GOLM1 | - | 9q21.33 |
| GOLPH3 | cell proliferation; regulation of mitochondrion organization; positive regulation of TOR signaling cascade | 5p13.3 |
| GOLPH3L | - | 1q21.3 |
| GOLT1A | protein transport; vesicle-mediated transport | 1q32.1 |
| GOLT1B | vesicle-mediated transport; protein transport; signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 12p12.1 |
| GON4L | regulation of transcription, DNA-dependent | 1q22 |
| GOPC | cytoplasmic sequestering of CFTR protein; ER to Golgi vesicle-mediated transport; Golgi to plasma membrane transport; spermatid nucleus differentiation; protein homooligomerization; regulation of catalytic activity; apical protein localization; protein transport | 6q21 |
| GORAB | - | 1q24.2 |
| GORASP1 | mitotic cell cycle; Golgi organization; protein transport; mitotic prophase; M phase of mitotic cell cycle | 3p22-p21.33 |
| GORASP2 | organelle organization; Golgi organization | 2q31.1 |
| GOSR1 | retrograde transport, endosome to Golgi; vesicle-mediated transport; protein transport; intra-Golgi vesicle-mediated transport; ER to Golgi vesicle-mediated transport | 17q11 |
| GOSR2 | endoplasmic reticulum unfolded protein response; protein transport; activation of signaling protein activity involved in unfolded protein response; cellular membrane fusion; ER to Golgi vesicle-mediated transport | 17q21 |
| GOT1 | glutamate metabolic process; aspartate catabolic process; aspartate biosynthetic process; aspartate metabolic process; glycerol biosynthetic process; oxaloacetate metabolic process; 2-oxoglutarate metabolic process; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process; sulfur amino acid metabolic process; fatty acid homeostasis; response to glucocorticoid stimulus; small molecule metabolic process; cellular nitrogen compound metabolic process; cellular response to insulin stimulus; glutamate catabolic process to 2-oxoglutarate; glutamate catabolic process to aspartate; L-methionine salvage from methylthioadenosine; biosynthetic process; cellular amino acid biosynthetic process; polyamine metabolic process | 10q24.1-q25.1 |
| GOT1L1 | biosynthetic process; cellular amino acid metabolic process | 8p11.23 |
| GOT2 | response to ethanol; small molecule metabolic process; cellular nitrogen compound metabolic process; glutamate catabolic process to aspartate; glutamate catabolic process to 2-oxoglutarate; carbohydrate metabolic process; glucose metabolic process; gluconeogenesis; 2-oxoglutarate metabolic process; oxaloacetate metabolic process; aspartate metabolic process; aspartate catabolic process; glutamate metabolic process; transport; cellular amino acid biosynthetic process; biosynthetic process; fatty acid transport; aspartate biosynthetic process | 16q21 |
| GOT2P1 | - | 1p32.3 |
| GOT2P2 | - | 1q25.1 |
| GOT2P3 | - | 12p13.31 |
| GOT2P4 | - | 12p12.3 |
| GOT2P5 | - | - |
| GP1BA | cell surface receptor signaling pathway; thrombin receptor signaling pathway; fibrinolysis; regulation of blood coagulation; platelet activation; blood coagulation, intrinsic pathway; blood coagulation; cell adhesion | 17pter-p12 |
| GP1BB | platelet activation; cell adhesion; cell surface receptor signaling pathway; blood coagulation; blood coagulation, intrinsic pathway | 22q11.21 |
| GP2 | - | 16p12 |
| GP5 | blood coagulation; cell-matrix adhesion; blood coagulation, intrinsic pathway; negative regulation of platelet activation; platelet activation; cell adhesion | 3q29 |
| GP6 | platelet activation; blood coagulation; enzyme linked receptor protein signaling pathway; leukocyte migration | 19q13.4 |
| GPA33 | - | 1q24.1 |
| GPAA1 | attachment of GPI anchor to protein; protein retention in ER lumen; cellular protein metabolic process; post-translational protein modification; C-terminal protein lipidation; protein complex assembly | 8q24.3 |
| GPALPP1 | - | 13q13-q14 |
| GPAM | glycerophospholipid metabolic process; fatty acid homeostasis; response to activity; phospholipid homeostasis; negative regulation of activation-induced cell death of T cells; response to nutrient levels; interleukin-2 secretion; fatty acid metabolic process; acyl-CoA metabolic process; triglyceride biosynthetic process; response to glucose stimulus; response to fructose stimulus; positive regulation of multicellular organism growth; cellular response to insulin stimulus; metabolic process; positive regulation of activated T cell proliferation; cellular lipid metabolic process; small molecule metabolic process; response to cadmium ion; regulation of cytokine secretion; phospholipid biosynthetic process; defense response to virus; positive regulation of triglyceride biosynthetic process | 10q25.2 |
| GPANK1 | - | 6p21.3 |
| GPAT2 | phospholipid biosynthetic process; glycerol-3-phosphate metabolic process; metabolic process; triglyceride biosynthetic process | 2q11.1 |
| GPAT3 | phospholipid biosynthetic process; triglyceride biosynthetic process; regulation of TOR signaling cascade; metabolic process | 4q21.23 |
| GPAT4 | acyl-CoA metabolic process; phosphatidylcholine biosynthetic process; phospholipid biosynthetic process; lipid biosynthetic process; regulation of multicellular organism growth; small molecule metabolic process; triglyceride biosynthetic process; diacylglycerol metabolic process; cellular lipid metabolic process; fatty acid metabolic process; glandular epithelial cell maturation; lactation | 8p11.21 |
| GPATCH1 | nuclear mRNA splicing, via spliceosome | 19q13.11 |
| GPATCH11 | - | 2p22.2 |
| GPATCH2 | negative regulation of phosphatase activity | 1q41 |
| GPATCH2L | - | 14q24.3 |
| GPATCH3 | - | 1p35.3-p35.1 |
| GPATCH4 | - | 1q22 |
| GPATCH8 | - | 17q21.31 |
| GPBAR1 | - | 2q35 |
| GPBP1 | regulation of transcription, DNA-dependent | 5q11.2 |
| GPBP1L1 | regulation of transcription, DNA-dependent | 1p34.1 |
| GPC1 | axon guidance | 2q35-q37 |
| GPC2 | neuron differentiation | 7q22.1 |
| GPC3 | anatomical structure morphogenesis; mesenchymal cell proliferation involved in ureteric bud development | Xq26.1 |
| GPC4 | anatomical structure morphogenesis; cell proliferation | Xq26.1 |
| GPC5 | - | 13q32 |
| GPC5-IT1 | - | - |
| GPC6 | - | 13q32 |
| GPCPD1 | lipid metabolic process; glycerol metabolic process | 20p12.3 |
| GPD1 | triglyceride biosynthetic process; glycerolipid metabolic process; glycerol-3-phosphate catabolic process; small molecule metabolic process; cellular lipid metabolic process; NADH oxidation; gluconeogenesis; carbohydrate metabolic process | 12q12-q13 |
| GPD1L | carbohydrate metabolic process; glycerol-3-phosphate catabolic process | 3p22.3 |
| GPD2 | glycerol-3-phosphate metabolic process; gluconeogenesis; NADH metabolic process; cellular lipid metabolic process; small molecule metabolic process | 2q24.1 |
| GPER1 | positive regulation of ERK1 and ERK2 cascade; positive regulation of epidermal growth factor receptor signaling pathway; intracellular steroid hormone receptor signaling pathway; G-protein coupled receptor signaling pathway | 7p22.3 |
| GPHA2 | - | 11q13.1 |
| GPHN | small molecule metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; Mo-molybdopterin cofactor biosynthetic process; molybdopterin cofactor biosynthetic process | 14q23.3 |
| GPI | glycolysis; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process; angiogenesis; hemostasis; humoral immune response; small molecule metabolic process | 19q13.1 |
| GPIHBP1 | triglyceride homeostasis; cholesterol homeostasis; transcytosis; protein stabilization; protein localization at cell surface; protein import; intracellular protein transport; lipid transport; positive regulation of lipoprotein lipase activity; response to heparin; positive regulation of chylomicron remnant clearance | 8q24.3 |
| GPKOW | - | Xp11.23 |
| GPLD1 | hematopoietic stem cell migration; positive regulation of insulin secretion involved in cellular response to glucose stimulus; positive regulation of apoptotic process; positive regulation of cytolysis; phosphatidylcholine metabolic process; positive regulation of membrane protein ectodomain proteolysis; positive regulation of secretion; transepithelial transport; cellular response to calcium ion; cellular response to cholesterol; cellular response to triglyceride; cellular response to pH; hematopoietic stem cell migration to bone marrow; regulation of cellular response to insulin stimulus; cellular response to insulin stimulus; ossification; cell migration involved in sprouting angiogenesis; chondrocyte differentiation; complement receptor mediated signaling pathway; GPI anchor release; negative regulation of cell proliferation; insulin receptor signaling pathway; response to glucose stimulus; positive regulation of endothelial cell migration; positive regulation of alkaline phosphatase activity; positive re | 6p22.1 |
| GPM6A | - | 4q34 |
| GPM6B | multicellular organismal development; nervous system development; cell differentiation | Xp22.2 |
| GPM6BP3 | - | - |
| GPN1 | - | 2p23.3 |
| GPN2 | - | 1p36.11 |
| GPN3 | - | 12q24.11 |
| GPNMB | negative regulation of cell proliferation; cell adhesion | 7p15 |
| GPR1 | G-protein coupled receptor signaling pathway | 2q33.3 |
| GPR1-AS1 | - | 2q33.3 |
| GPR107 | - | 9q34.11 |
| GPR116P1 | - | 9q13 |
| GPR116P2 | - | 9p11.2 |
| GPR119 | insulin secretion | Xq26.1 |
| GPR12 | G-protein coupled receptor signaling pathway; cellular calcium ion homeostasis | 13q12 |
| GPR132 | response to stress; G1/S transition of mitotic cell cycle | 14q32.3 |
| GPR135 | - | 14q23.1 |
| GPR137 | - | 11cen-q22.3 |
| GPR137B | - | 1q42-q43 |
| GPR137C | - | 14q22.1 |
| GPR141 | G-protein coupled receptor signaling pathway | 7p14.1 |
| GPR143 | eye pigment biosynthetic process; signal transduction; G-protein coupled receptor signaling pathway; visual perception; melanosome localization; regulation of calcium-mediated signaling; phosphatidylinositol-mediated signaling; calcium-mediated signaling using intracellular calcium source; melanosome organization; melanosome transport | Xp22.3 |
| GPR143P | - | Yp11.2 |
| GPR144 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 9q33.3 |
| GPR146 | - | 7p22.3 |
| GPR149 | - | 3q25.2 |
| GPR15 | G-protein coupled receptor signaling pathway | 3q11.2-q13.1 |
| GPR150 | - | 5q15 |
| GPR152 | - | 11q13.2 |
| GPR153 | - | 1p36.31 |
| GPR155 | transmembrane transport; intracellular signal transduction | 2q31.1 |
| GPR156 | - | 3q13.33 |
| GPR157 | - | 1p36.23 |
| GPR158 | - | 10p12.1 |
| GPR160 | - | 3q26.2-q27 |
| GPR161 | multicellular organismal development | 1q24.2 |
| GPR162 | - | 12p13 |
| GPR17 | G-protein coupled receptor signaling pathway | 2q21 |
| GPR171 | G-protein coupled receptor signaling pathway | 3q25.1 |
| GPR173 | G-protein coupled receptor signaling pathway; signal transduction | Xp11 |
| GPR174 | - | Xq21.1 |
| GPR176 | synaptic transmission; G-protein coupled receptor signaling pathway | 15q14-q15.1 |
| GPR179 | - | 17q21.1 |
| GPR18 | G-protein coupled receptor signaling pathway | 13q32 |
| GPR180 | - | 13q32.1 |
| GPR182 | cell surface receptor signaling pathway; response to hypoxia | 12q13.3 |
| GPR183 | G-protein coupled receptor signaling pathway; humoral immune response; immune response; mature B cell differentiation involved in immune response | 13q32.3 |
| GPR19 | G-protein coupled receptor signaling pathway | 12p12.3 |
| GPR20 | G-protein coupled receptor signaling pathway | 8q24.3 |
| GPR21 | G-protein coupled receptor signaling pathway | 9q33 |
| GPR22 | G-protein coupled receptor signaling pathway | 7q22-q31.1 |
| GPR26 | activation of adenylate cyclase activity by G-protein signaling pathway | 10q26.13 |
| GPR27 | G-protein coupled receptor signaling pathway; signal transduction | 3p21-p14 |
| GPR3 | activation of adenylate cyclase activity by G-protein signaling pathway; regulation of meiosis | 1p36.1-p35 |
| GPR33 | - | 14q12 |
| GPR35 | G-protein coupled receptor signaling pathway | 2q37.3 |
| GPR37 | G-protein coupled receptor signaling pathway | 7q31 |
| GPR37L1 | - | 1q32.1 |
| GPR39 | G-protein coupled receptor signaling pathway | 2q21-q22 |
| GPR4 | G-protein coupled receptor signaling pathway | 19q13.3 |
| GPR42 | G-protein coupled receptor signaling pathway | 19q13.1 |
| GPR45 | - | 2q11.1-q12 |
| GPR50 | cell-cell signaling; G-protein coupled receptor signaling pathway | Xq28 |
| GPR50-AS1 | - | Xq28 |
| GPR52 | G-protein coupled receptor signaling pathway | 1q24 |
| GPR53P | - | 6p21 |
| GPR55 | activation of phospholipase C activity; G-protein coupled receptor signaling pathway; positive regulation of Rho protein signal transduction; bone resorption; negative regulation of osteoclast differentiation; positive regulation of ERK1 and ERK2 cascade | 2q37 |
| GPR61 | - | 1p13.3 |
| GPR63 | - | 6q16.1-q16.3 |
| GPR65 | immune response; apoptotic process; positive regulation of stress fiber assembly; activation of Rho GTPase activity; actin cytoskeleton reorganization; G-protein coupled receptor signaling pathway; multicellular organismal development; response to acidity; positive regulation of cAMP biosynthetic process | 14q31-q32.1 |
| GPR68 | G-protein coupled receptor signaling pathway; inflammatory response | 14q31 |
| GPR75 | G-protein coupled receptor signaling pathway | 2p16 |
| GPR79 | - | 3q25.32 |
| GPR83 | G-protein coupled receptor signaling pathway; response to glucocorticoid stimulus | 11q21 |
| GPR84 | - | 12q13.13 |
| GPR85 | G-protein coupled receptor signaling pathway; signal transduction | 7q31 |
| GPR87 | - | 3q24 |
| GPR88 | G-protein coupled receptor signaling pathway | 1p21.3 |
| GPR89A | protein transport; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of anion transport; intracellular pH reduction; signal transduction; ion transport | 1q21.1 |
| GPRASP1 | - | Xq22.1 |
| GPRC5A | signal transduction; G-protein coupled receptor signaling pathway | 12p13-p12.3 |
| GPRC5B | - | 16p12 |
| GPRC5C | G-protein coupled receptor signaling pathway | 17q25 |
| GPRC5D | - | 12p13.3 |
| GPRIN1 | neuron projection development | 5q35.2 |
| GPRIN2 | - | 10q11.22 |
| GPRIN3 | - | 4q22.1 |
| GPS1 | inactivation of MAPK activity; cell cycle; JNK cascade; cullin deneddylation | 17q25.3 |
| GPS2 | negative regulation of transcription from RNA polymerase II promoter; inactivation of MAPK activity; cell cycle; JNK cascade; negative regulation of JNK cascade | 17p13 |
| GPSM1 | cell differentiation; regulation of G-protein coupled receptor protein signaling pathway; nervous system development; multicellular organismal development; signal transduction | 9q34.3 |
| GPSM2 | G-protein coupled receptor signaling pathway; establishment of mitotic spindle orientation; signal transduction; regulation of G-protein coupled receptor protein signaling pathway; lung epithelial cell differentiation | 1p13.3 |
| GPSM3 | signal transduction; regulation of G-protein coupled receptor protein signaling pathway | 6p21.3 |
| GPT | gluconeogenesis; small molecule metabolic process; cellular nitrogen compound metabolic process; biosynthetic process; cellular amino acid biosynthetic process; nitrogen compound metabolic process | 8q24.3 |
| GPT2 | 2-oxoglutarate metabolic process; small molecule metabolic process; L-alanine metabolic process; cellular nitrogen compound metabolic process; biosynthetic process; cellular amino acid biosynthetic process | 16q12.1 |
| GPX1 | purine nucleotide catabolic process; regulation of gene expression, epigenetic; glutathione metabolic process; anti-apoptosis; response to oxidative stress; UV protection; response to selenium ion; negative regulation of endopeptidase activity; regulation of mammary gland epithelial cell proliferation; purine base metabolic process; release of cytochrome c from mitochondria; regulation of proteasomal protein catabolic process; heart contraction; nucleobase-containing small molecule metabolic process; cell redox homeostasis; small molecule metabolic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; hydrogen peroxide catabolic process; response to hydrogen peroxide | 3p21.3 |
| GPX1P1 | - | Xp22.2 |
| GPX1P2 | - | 21q21.3 |
| GPX2 | response to oxidative stress | 14q24.1 |
| GPX3 | response to molecule of fungal origin; response to drug; hydrogen peroxide catabolic process; protein homotetramerization; response to corticosterone stimulus; oxidation-reduction process; response to organic cyclic compound; response to selenium ion; female pregnancy; response to lipid hydroperoxide; response to oxidative stress; glutathione metabolic process | 5q23 |
| GPX4 | phospholipid metabolic process; response to oxidative stress; multicellular organismal development; oxidation-reduction process | 19p13.3 |
| GPX5 | lipid metabolic process; response to oxidative stress | 6p22.1 |
| GPX6 | response to oxidative stress | 6p22.1 |
| GPX7 | response to oxidative stress | 1p32 |
| GPX8 | response to oxidative stress | 5q11.2 |
| GRAMD1A | - | 19q13.13 |
| GRAMD1B | - | 11q24.1 |
| GRAMD1C | - | 3q13.31 |
| GRAMD2 | - | 15q23 |
| GRAMD3 | - | 5q23.2 |
| GRAMD4 | apoptotic process | 22q13.31 |
| GRAMD4P2 | - | - |
| GRAP | Ras protein signal transduction; cell-cell signaling | 17p11.2 |
| GRAP2 | T cell receptor signaling pathway; Ras protein signal transduction; cell-cell signaling; T cell costimulation | 22q13.2 |
| GRAPL | - | 17p11.2 |
| GRASP | signal transduction; protein localization | 12q13.13 |
| GRB10 | negative regulation of Wnt receptor signaling pathway; insulin-like growth factor receptor signaling pathway; negative regulation of insulin receptor signaling pathway; negative regulation of glucose import; negative regulation of glycogen biosynthetic process; positive regulation of phosphorylation; negative regulation of phosphorylation; response to insulin stimulus; signal transduction; insulin receptor signaling pathway; positive regulation of vascular endothelial growth factor receptor signaling pathway | 7p12.2 |
| GRB14 | signal transduction; blood coagulation; intracellular signal transduction; negative regulation of insulin receptor signaling pathway; leukocyte migration | 2q22-q24 |
| GRB2 | regulation of MAPK cascade; epidermal growth factor receptor signaling pathway; signal transduction in response to DNA damage; interspecies interaction between organisms; nerve growth factor receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; receptor internalization; T cell costimulation; platelet activation; anatomical structure formation involved in morphogenesis; leukocyte migration; protein heterooligomerization; branching involved in embryonic placenta morphogenesis; cellular response to ionizing radiation; positive regulation of reactive oxygen species metabolic process; cell differentiation; fibroblast growth factor receptor signaling pathway; Ras protein signal transduction; cell-cell signaling; axon guidance; aging; insulin receptor signaling pathway; blood coagulation | 17q24-q25 |
| GRB7 | signal transduction; epidermal growth factor receptor signaling pathway; negative regulation of translation; positive regulation of cell migration; stress granule assembly; leukocyte migration; blood coagulation | 17q12 |
| GREB1 | - | 2p25.1 |
| GREB1L | - | 18q11.2 |
| GREM1 | angiogenesis; negative regulation of leukocyte chemotaxis; mesenchymal to epithelial transition involved in metanephros morphogenesis; apoptotic process; cell-cell signaling; multicellular organismal development; negative regulation of transcription, DNA-dependent; nervous system development; proximal/distal pattern formation; positive regulation of branching involved in ureteric bud morphogenesis; ureteric bud formation; positive regulation of NF-kappaB transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of NF-kappaB import into nucleus; embryonic limb morphogenesis; negative regulation of cell growth; regulation of epithelial to mesenchymal transition; organ morphogenesis; negative regulation of BMP signaling pathway | 15q13.3 |
| GREM2 | BMP signaling pathway | 1q43 |
| GRHL1 | small molecule metabolic process; cellular lipid metabolic process; multicellular organismal development; regulation of transcription, DNA-dependent | 2p25.1 |
| GRHL2 | - | 8q22.3 |
| GRHL3 | positive regulation of Rho GTPase activity; establishment of planar polarity; positive regulation of transcription from RNA polymerase II promoter; pattern specification process; wound healing; regulation of actin cytoskeleton organization; planar cell polarity pathway involved in neural tube closure; ectoderm development; epidermis development; cochlea morphogenesis; central nervous system development | 1p36.11 |
| GRHPR | oxidation-reduction process; glyoxylate metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; metabolic process; excretion | 9q12 |
| GRIA1 | synaptic transmission; receptor internalization; long-term memory; signal transduction; ion transport | 5q31.1 |
| GRIA2 | ion transport; signal transduction; synaptic transmission | 4q32.1 |
| GRIA3 | glutamate receptor signaling pathway; synaptic transmission; regulation of receptor recycling; transport; ion transport; response to fungicide; response to lithium ion | Xq25 |
| GRIA4 | response to fungicide; positive regulation of synaptic transmission, glutamatergic; regulation of synaptic transmission; synaptic transmission; glutamate receptor signaling pathway; ion transport; transport | 11q22 |
| GRID1 | ion transport | 10q22 |
| GRID2 | synaptic transmission, glutamatergic; transport; ion transport; glutamate receptor signaling pathway; regulation of neuron apoptosis; prepulse inhibition; regulation of excitatory postsynaptic membrane potential | 4q22 |
| GRID2IP | cellular component organization; actin cytoskeleton organization; long term synaptic depression | 7p22.1 |
| GRIK1 | synaptic transmission; nervous system development; central nervous system development; positive regulation of gamma-aminobutyric acid secretion; adult behavior; negative regulation of synaptic transmission, GABAergic; positive regulation of synaptic transmission, GABAergic; regulation of short-term neuronal synaptic plasticity; behavioral response to pain; regulation of synaptic transmission, glutamatergic; glutamate receptor signaling pathway; negative regulation of synaptic transmission, glutamatergic; regulation of excitatory postsynaptic membrane potential; regulation of inhibitory postsynaptic membrane potential; signal transduction; ion transport; transport | 21q22.11 |
| GRIK2 | negative regulation of synaptic transmission, glutamatergic; neuron apoptosis; regulation of inhibitory postsynaptic membrane potential; positive regulation of synaptic transmission; regulation of synaptic transmission; regulation of excitatory postsynaptic membrane potential; regulation of long-term neuronal synaptic plasticity; signal transduction; intracellular protein transport; glutamate receptor signaling pathway; cellular calcium ion homeostasis; ion transport; regulation of short-term neuronal synaptic plasticity; transport; behavioral fear response; synaptic transmission; regulation of JNK cascade; negative regulation of neuron apoptosis; receptor clustering; regulation of action potential in neuron; regulation of membrane potential; induction of programmed cell death in response to chemical stimulus | 6q16.3 |
| GRIK3 | glutamate receptor signaling pathway; G-protein coupled glutamate receptor signaling pathway; synaptic transmission; ionotropic glutamate receptor signaling pathway; regulation of membrane potential; negative regulation of synaptic transmission, glutamatergic; inhibition of adenylate cyclase activity by G-protein coupled glutamate receptor signaling pathway; ion transport | 1p34.3 |
| GRIK4 | synaptic transmission; response to corticosteroid stimulus; glutamate receptor signaling pathway; ion transport; transport | 11q22.3 |
| GRIK5 | synaptic transmission; protein retention in ER lumen; cellular response to glucose stimulus; establishment of localization in cell; neuroprotection; receptor clustering; ion transport | 19q13.2 |
| GRIN1 | cation transport; calcium ion transmembrane transport; regulation of excitatory postsynaptic membrane potential; calcium ion homeostasis; positive regulation of transcription from RNA polymerase II promoter; response to ethanol; regulation of membrane potential; ionotropic glutamate receptor signaling pathway; visual learning; synaptic transmission; ion transport | 9q34.3 |
| GRIN2A | response to amphetamine; neurogenesis; learning; startle response; regulation of action potential; transport; ion transport; signal transduction; glutamate receptor signaling pathway; synaptic transmission; spinal cord development; learning or memory; cerebral cortex development; memory; protein localization; visual learning; response to light stimulus; response to wounding; response to carbohydrate stimulus; positive regulation of cell death; response to organic cyclic compound; hippocampus development; directional locomotion; sleep; cellular response to lipid; cellular response to growth factor stimulus; cellular response to dsRNA; cellular response to zinc ion; cellular response to manganese ion; cellular response to magnesium ion; cellular response to amino acid stimulus; response to fungicide; response to ammonium ion; regulation of excitatory postsynaptic membrane potential; regulation of sensory perception of pain; response to other organism; response to calcium ion; negative regulation of protein cata | 16p13.2 |
| GRIN2B | cerebral cortex development; rhythmic process; regulation of long-term neuronal synaptic plasticity; positive regulation of synaptic transmission; response to ethanol; regulation of MAPK cascade; receptor clustering; response to cocaine; response to cytokine stimulus; response to carbohydrate stimulus; multicellular organismal response to stress; response to magnesium ion; response to calcium ion; response to methylmercury; response to electrical stimulus; response to other organism; response to growth hormone stimulus; response to fungicide; cellular response to amino acid stimulus; cellular response to manganese ion; cellular response to dsRNA; cellular response to growth factor stimulus; cellular response to lipid; cellular response to organic cyclic compound; positive regulation of glutamate secretion; hippocampus development; response to acid; regulation of action potential; response to amphetamine; transport; ion transport; glutamate receptor signaling pathway; synaptic transmission; learning or memory; | 12p12 |
| GRIN2C | directional locomotion; response to wounding; protein localization; synaptic transmission; glutamate receptor signaling pathway; signal transduction; cation transport; ion transport; transport; ion transmembrane transport; negative regulation of protein catabolic process; regulation of membrane potential; neuromuscular process controlling balance; regulation of excitatory postsynaptic membrane potential | 17q25.1 |
| GRIN2D | startle response; ion transport; signal transduction; synaptic transmission; regulation of sensory perception of pain; synaptic transmission, glutamatergic; adult locomotory behavior | 19q13.33 |
| GRIN3A | ion transport; calcium ion transport; signal transduction; prepulse inhibition; dendrite development; response to ethanol; rhythmic process | 9q31.1 |
| GRINA | - | 8q24.3 |
| GRIP1 | androgen receptor signaling pathway; synaptic transmission; intracellular signal transduction; positive regulation of transcription, DNA-dependent | 12q14.3 |
| GRIP2 | synaptic transmission | 3p24-p23 |
| GRIPAP1 | - | Xp11 |
| GRK4 | termination of G-protein coupled receptor signaling pathway; receptor internalization; regulation of G-protein coupled receptor protein signaling pathway; signal transduction; G-protein coupled receptor internalization | 4p16.3 |
| GRK5 | response to drug; signal transduction; G-protein signaling, coupled to cAMP nucleotide second messenger; tachykinin receptor signaling pathway; regulation of G-protein coupled receptor protein signaling pathway; Wnt receptor signaling pathway; termination of G-protein coupled receptor signaling pathway; negative regulation of apoptotic process; protein autophosphorylation | 10q26.11 |
| GRK6 | signal transduction; regulation of G-protein coupled receptor protein signaling pathway; Wnt receptor signaling pathway; termination of G-protein coupled receptor signaling pathway | 5q35 |
| GRK6P1 | - | 13q12.11 |
| GRM1 | activation of MAPKK activity; activation of MAPK activity; cellular response to electrical stimulus; regulation of synaptic transmission, glutamatergic; regulation of sensory perception of pain; regulation of MAPK cascade; calcium-mediated signaling; locomotory behavior; synaptic transmission; G-protein coupled receptor signaling pathway | 6q24 |
| GRM2 | negative regulation of adenylate cyclase activity; inhibition of adenylate cyclase activity by G-protein coupled glutamate receptor signaling pathway; synaptic transmission; glutamate secretion; G-protein coupled receptor signaling pathway | 3p21.2 |
| GRM4 | inhibition of adenylate cyclase activity by G-protein coupled glutamate receptor signaling pathway; G-protein coupled receptor signaling pathway; activation of MAPK activity; neuroprotection; synaptic transmission; neurotransmitter secretion; positive regulation of MAPK cascade | 6p21.3 |
| GRM5 | positive regulation of long-term neuronal synaptic plasticity; desensitization of G-protein coupled receptor protein signaling pathway; regulation of transcription, DNA-dependent; protein phosphorylation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; activation of phospholipase C activity by G-protein coupled glutamate receptor signaling pathway; synaptic transmission; learning; locomotory behavior; negative regulation of locomotion; activation of MAPKKK activity | 11q14.3 |
| GRM6 | synaptic transmission; retina development in camera-type eye; response to stimulus; detection of visible light; locomotory behavior; visual perception; G-protein coupled glutamate receptor signaling pathway | 5q35 |
| GRM7 | negative regulation of adenylate cyclase activity; response to stimulus; multicellular organismal response to stress; calcium ion transmembrane transport; negative regulation of cAMP biosynthetic process; adult behavior; negative regulation of glutamate secretion; short-term memory; sensory perception of smell; sensory perception of sound; synaptic transmission; behavioral fear response; conditioned taste aversion | 3p26.1-p25.1 |
| GRM7-AS2 | - | - |
| GRM8 | G-protein coupled receptor signaling pathway; negative regulation of adenylate cyclase activity; inhibition of adenylate cyclase activity by G-protein coupled glutamate receptor signaling pathway; visual perception; sensory perception of smell; negative regulation of cAMP biosynthetic process; synaptic transmission, glutamatergic; regulation of neurotransmitter secretion; response to stimulus | 7q31.3-q32.1 |
| GRN | embryo implantation; signal transduction; blastocyst hatching; positive regulation of epithelial cell proliferation | 17q21.32 |
| GRPEL1 | protein import into mitochondrial matrix; protein folding | 4p16 |
| GRPEL2 | protein folding | 5q32 |
| GRPEL2P2 | - | Xq11.2 |
| GRPR | G-protein coupled receptor signaling pathway; learning or memory; cell proliferation; social behavior; regulation of cell proliferation | Xp22.2 |
| GRSF1 | mRNA polyadenylation; morphogenesis of embryonic epithelium; anterior/posterior pattern specification | 4q13 |
| GRTP1 | - | 13q34 |
| GRWD1 | - | 19q13.33 |
| GS1-124K5.11 | - | 7q11.21 |
| GS1-259H13.2 | - | 7q22.1 |
| GS1-279B7.1 | - | 1q25.3 |
| GS1-600G8.3 | - | - |
| GS52 | - | 16p13.3 |
| GS85 | - | 16p13.3 |
| GSAP | - | 7q11.23 |
| GSC | embryonic skeletal system morphogenesis; forebrain development; gastrulation; muscle organ morphogenesis; anatomical structure morphogenesis; dorsal/ventral neural tube patterning; signal transduction involved in regulation of gene expression; negative regulation of Wnt receptor signaling pathway; multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; middle ear morphogenesis; ear development | 14q32.1 |
| GSDMA | induction of apoptosis; apoptotic process | 17q21.1 |
| GSDMB | - | 17q12 |
| GSDMC | - | 8q24.21 |
| GSDMD | - | 8q24.3 |
| GSE1 | - | 16q24.1 |
| GSG1 | - | 12p13.1 |
| GSG1L | - | 16p12.1 |
| GSG2 | histone H3-T3 phosphorylation; regulation of spindle checkpoint; mitotic sister chromatid cohesion; intracellular protein kinase cascade; protein phosphorylation; protein localization to chromosome, centromeric region; cell cycle; chromatin modification | 17p13 |
| GSK3A | negative regulation of glycogen biosynthetic process; positive regulation of protein catabolic process; positive regulation of heart contraction; positive regulation of transcription from RNA polymerase II promoter; negative regulation of glucose import; negative regulation of insulin receptor signaling pathway; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; negative regulation of transferase activity; negative regulation of cell growth involved in cardiac muscle cell development; cellular response to lithium ion; cellular response to organic cyclic compound; positive regulation of adrenergic receptor signaling pathway; negative regulation of canonical Wnt receptor signaling pathway; positive regulation of glycogen (starch) synthase activity; negative regulation of glycogen (starch) synthase activity; protein phosphorylation; negative regulation of type B pancreatic cell development; positive regulation of peptidyl-serine phosphorylation; glycogen metabolic process; r | 19q13.2 |
| GSK3B | regulation of microtubule-based process; intracellular signal transduction; negative regulation of apoptotic process; negative regulation of signal transduction; negative regulation of glycogen biosynthetic process; positive regulation of protein catabolic process; positive regulation of protein export from nucleus; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; negative regulation of NFAT protein import into nucleus; canonical Wnt receptor signaling pathway; superior temporal gyrus development; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of type B pancreatic cell development; negative regulation of glycogen (starch) synthase activity; nervous system development; epithelial to mesenchymal transition; positive regulation of cell-matrix adhesion; carbohydrate metabolic process; glycogen metabolic process; protein phosphorylation; ER overload response; epidermal growth factor receptor signaling pathway; multicellular organismal de | 3q13.3 |
| GSKIP | - | 14q32.2 |
| GSN | actin polymerization or depolymerization; phosphatidylinositol-mediated signaling; response to ethanol; tissue regeneration; regulation of cell adhesion; actin filament polymerization; cell projection organization; vesicle-mediated transport; oligodendrocyte development; aging; cellular component disassembly involved in apoptosis; apoptotic process; actin filament severing; barbed-end actin filament capping; response to folic acid; cilium morphogenesis; cellular response to cadmium ion | 9q33 |
| GSN-AS1 | - | 9q33.2 |
| GSPT1 | G1/S transition of mitotic cell cycle; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; GTP catabolic process; translation; protein methylation | 16p13.1 |
| GSPT2 | translation; translational termination; cell cycle; gene expression; RNA metabolic process; mRNA metabolic process; cellular protein metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | Xp11.22 |
| GSR | glutathione metabolic process; spermatogenesis; nucleobase-containing small molecule interconversion; small molecule metabolic process; cell redox homeostasis; nucleobase-containing small molecule metabolic process | 8p21.1 |
| GSS | aging; glutathione biosynthetic process; xenobiotic metabolic process; response to oxidative stress; nervous system development; small molecule metabolic process; response to cadmium ion; response to amino acid stimulus; response to tumor necrosis factor; response to nutrient levels; response to xenobiotic stimulus; cellular amino acid metabolic process | 20q11.2 |
| GSTA1 | xenobiotic metabolic process; metabolic process; small molecule metabolic process; glutathione metabolic process | 6p12.1 |
| GSTA2 | xenobiotic metabolic process; small molecule metabolic process; glutathione metabolic process | 6p12.1 |
| GSTA3 | glutathione metabolic process; xenobiotic metabolic process; metabolic process; small molecule metabolic process | 6p12.1 |
| GSTA4 | small molecule metabolic process; metabolic process; xenobiotic metabolic process; glutathione metabolic process | 6p12.1 |
| GSTA5 | glutathione metabolic process; small molecule metabolic process; xenobiotic metabolic process | 6p12.2 |
| GSTA7P | - | 6p12.2 |
| GSTCD | - | 4q24 |
| GSTK1 | - | 7q34 |
| GSTM1 | small molecule metabolic process; xenobiotic metabolic process | 1p13.3 |
| GSTM2 | xenobiotic catabolic process; metabolic process; glutathione metabolic process | 1p13.3 |
| GSTM2P1 | - | 6q21 |
| GSTM3 | response to estrogen stimulus; glutathione metabolic process; establishment of blood-nerve barrier; metabolic process | 1p13.3 |
| GSTM3P2 | - | - |
| GSTM4 | small molecule metabolic process; nitrobenzene metabolic process; xenobiotic metabolic process; metabolic process; xenobiotic catabolic process | 1p13.3 |
| GSTM5 | small molecule metabolic process; xenobiotic metabolic process; metabolic process | 1p13.3 |
| GSTM5P1 | - | 3p25.2 |
| GSTO1 | oxidation-reduction process; metabolic process; xenobiotic metabolic process; cellular response to arsenic-containing substance; small molecule metabolic process; xenobiotic catabolic process; L-ascorbic acid biosynthetic process; L-ascorbic acid metabolic process | 10q25.1 |
| GSTO2 | oxidation-reduction process; xenobiotic metabolic process; metabolic process; L-ascorbic acid metabolic process; small molecule metabolic process; water-soluble vitamin metabolic process; vitamin metabolic process; cellular response to arsenic-containing substance | 10q25.1 |
| GSTP1 | negative regulation of leukocyte proliferation; cellular response to lipopolysaccharide; cellular response to epidermal growth factor stimulus; cellular response to glucocorticoid stimulus; cellular response to cell-matrix adhesion; negative regulation of monocyte chemotactic protein-1 production; negative regulation of MAPK cascade; positive regulation of superoxide anion generation; response to L-ascorbic acid; common myeloid progenitor cell proliferation; nitric oxide storage; regulation of phosphorylation; negative regulation of apoptotic process; negative regulation of I-kappaB kinase/NF-kappaB cascade; response to amino acid stimulus; negative regulation of MAP kinase activity; negative regulation of acute inflammatory response; negative regulation of JUN kinase activity; small molecule metabolic process; response to ethanol; negative regulation of fibroblast proliferation; negative regulation of nitric-oxide synthase biosynthetic process; negative regulation of necrotic cell death; regulation of ERK1 a | 11q13 |
| GSTP1P1 | - | 12q13-q14 |
| GSTT1 | glutathione metabolic process | 22q11.23 |
| GSTT2 | - | 22q11.23 |
| GSTZ1 | L-phenylalanine catabolic process; tyrosine catabolic process; glutathione metabolic process; aromatic amino acid family metabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 14q24.3 |
| GSX1 | neuron fate commitment; spinal cord association neuron differentiation; hypothalamus development; multicellular organismal development; adenohypophysis development; positive regulation of transcription from RNA polymerase II promoter | 13q12.2 |
| GSX2 | multicellular organismal development | 4q12 |
| GTDC1 | biosynthetic process | 2q22.3 |
| GTF2A1 | transcription initiation from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; gene expression; transcription elongation from RNA polymerase II promoter; viral reproduction | 14q31.1 |
| GTF2A2 | RNA polymerase II transcriptional preinitiation complex assembly; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; interspecies interaction between organisms; viral reproduction; gene expression; transcription elongation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase II promoter | 15q22.2 |
| GTF2B | gene expression; interspecies interaction between organisms; viral reproduction; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 1p22-p21 |
| GTF2E1 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction; interspecies interaction between organisms | 3q21-q24 |
| GTF2E2 | transcription initiation from RNA polymerase II promoter; viral reproduction; gene expression; transcription elongation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 8p12 |
| GTF2F1 | positive regulation of transcription from RNA polymerase II promoter; positive regulation of viral transcription; viral reproduction; gene expression; response to virus; RNA splicing; mRNA capping; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; transcription elongation from RNA polymerase II promoter | 19p13.3 |
| GTF2F2 | transcription from RNA polymerase II promoter; positive regulation of viral transcription; positive regulation of transcription from RNA polymerase II promoter; viral reproduction; gene expression; RNA splicing; mRNA capping; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; regulation of transcription, DNA-dependent; nuclear mRNA splicing, via spliceosome | 13q14 |
| GTF2H1 | termination of RNA polymerase I transcription; transcription elongation from RNA polymerase I promoter; positive regulation of viral transcription; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; mRNA capping; protein phosphorylation; positive regulation of transcription from RNA polymerase II promoter; viral reproduction; gene expression; regulation of transcription, DNA-dependent; transcription from RNA polymerase I promoter; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; nucleotide-excision repair, DNA damage removal; regulation of cyclin-dependent protein kinase activity; transcription initiation from RNA polymerase I promoter | 11p15.1-p14 |
| GTF2H2 | termination of RNA polymerase I transcription; transcription elongation from RNA polymerase I promoter; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; mRNA capping; translation; protein phosphorylation; response to UV; gene expression; viral reproduction; positive regulation of viral transcription; transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; G-protein coupled receptor internalization; nucleotide-excision repair, DNA damage removal | 5q13.2 |
| GTF2H2B | - | 5q13.2 |
| GTF2H2D | regulation of transcription, DNA-dependent; DNA repair | 5q13.2 |
| GTF2H3 | termination of RNA polymerase I transcription; nucleotide-excision repair, DNA damage removal; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; mRNA capping; translation; positive regulation of viral transcription; viral reproduction; gene expression; protein phosphorylation; transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; transcription elongation from RNA polymerase I promoter | 12q24.31 |
| GTF2H4 | mRNA capping; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; termination of RNA polymerase I transcription; transcription elongation from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; nucleotide-excision repair, DNA damage removal; positive regulation of viral transcription; viral reproduction; gene expression; protein phosphorylation | 6p21.3 |
| GTF2H5 | nucleotide-excision repair; regulation of transcription, DNA-dependent | 6q25.3 |
| GTF2I | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; signal transduction; embryo development; negative regulation of angiogenesis | 7q11.23 |
| GTF2IP1 | - | 7q11.23 |
| GTF2IP3 | - | 13q12.11 |
| GTF2IP4 | - | 7q11.23 |
| GTF2IRD1 | embryo development; regulation of transcription, DNA-dependent; multicellular organismal development | 7q11.23 |
| GTF2IRD1P1 | - | 7q11.21 |
| GTF2IRD2 | regulation of transcription, DNA-dependent | 7q11.23 |
| GTF2IRD2B | regulation of transcription, DNA-dependent | 7q11.23 |
| GTF3A | regulation of transcription, DNA-dependent; transcription from RNA polymerase III promoter; rRNA transcription; gene expression | 13q12.3-q13.1 |
| GTF3C1 | transcription from RNA polymerase III promoter; tRNA transcription; transcription, DNA-dependent; gene expression; 5S class rRNA transcription from RNA polymerase III type 1 promoter; tRNA transcription from RNA polymerase III promoter; rRNA transcription | 16p12 |
| GTF3C2 | transcription, DNA-dependent; transcription from RNA polymerase III promoter; gene expression; 5S class rRNA transcription from RNA polymerase III type 1 promoter; tRNA transcription from RNA polymerase III promoter | 2p23.3 |
| GTF3C2-AS1 | - | 2p23.3 |
| GTF3C3 | gene expression; transcription from RNA polymerase III promoter; tRNA transcription from RNA polymerase III promoter; 5S class rRNA transcription from RNA polymerase III type 1 promoter; transcription, DNA-dependent | 2q33.1 |
| GTF3C4 | transcription initiation from RNA polymerase III promoter; gene expression; histone acetylation; 5S class rRNA transcription from RNA polymerase III type 1 promoter; transcription from RNA polymerase III promoter; transcription, DNA-dependent; positive regulation of catalytic activity; tRNA transcription from RNA polymerase III promoter | 9q34.13 |
| GTF3C5 | 5S class rRNA transcription from RNA polymerase III type 1 promoter; tRNA transcription from RNA polymerase III promoter; gene expression; transcription from RNA polymerase III promoter; transcription, DNA-dependent | 9q34 |
| GTF3C6 | transcription from RNA polymerase III promoter; tRNA transcription from RNA polymerase III promoter; 5S class rRNA transcription from RNA polymerase III type 1 promoter; transcription, DNA-dependent | 6q21 |
| GTPBP1 | positive regulation of mRNA catabolic process; signal transduction; immune response; GTP catabolic process | 22q13.1 |
| GTPBP2 | - | 6p21 |
| GTPBP3 | tRNA modification | 19p13.11 |
| GTPBP4 | GTP catabolic process; negative regulation of DNA replication; negative regulation of cell proliferation; negative regulation of cell-cell adhesion; negative regulation of cell migration; negative regulation of protein ubiquitination; negative regulation of collagen binding; ribosome biogenesis; protein stabilization; regulation of cyclin-dependent protein kinase activity | 10p15-p14 |
| GTPBP6 | - | Xp22.33; Yp11.32 |
| GTPBP8 | barrier septum assembly | 3q13.2 |
| GTSE1 | microtubule-based process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; G2 phase of mitotic cell cycle | 22q13.2-q13.3 |
| GTSE1-AS1 | - | 22q13.31 |
| GTSF1 | - | 12q13.13 |
| GTSF1L | - | 20q13.12 |
| GUCA1A | response to stimulus; signal transduction; visual perception | 6p21.1 |
| GUCA1B | cell-cell signaling; body fluid secretion; visual perception; phototransduction; receptor guanylyl cyclase signaling pathway; regulation of guanylate cyclase activity; positive regulation of catalytic activity; response to stimulus | 6p21.1 |
| GUCA1C | signal transduction; visual perception | 3q13.1 |
| GUCA2A | signal transduction | 1p35-p34 |
| GUCD1 | - | 22q11.2 |
| GUCY1A2 | cGMP biosynthetic process; signal transduction; blood coagulation; intracellular signal transduction | 11q21-q22 |
| GUCY1A3 | cGMP biosynthetic process; nitric oxide mediated signal transduction; blood coagulation; intracellular signal transduction; blood circulation | 4q31.1-q31.2 |
| GUCY1B2 | - | 13q14.3 |
| GUCY1B3 | cGMP biosynthetic process; intracellular signal transduction; blood circulation; blood coagulation; nitric oxide mediated signal transduction | 4q31.3-q33 |
| GUCY2C | regulation of cell proliferation; intracellular signal transduction; response to toxin; receptor guanylyl cyclase signaling pathway; cGMP biosynthetic process | 12p12 |
| GUCY2D | receptor guanylyl cyclase signaling pathway; visual perception; intracellular signal transduction; response to stimulus; cGMP biosynthetic process | 17p13.1 |
| GUCY2EP | - | 11q13.5 |
| GUCY2F | cGMP biosynthetic process; receptor guanylyl cyclase signaling pathway; visual perception; intracellular signal transduction; response to stimulus | Xq22 |
| GUCY2GP | - | 10q25.2 |
| GUF1 | translation | 4p12 |
| GUK1 | nucleobase-containing small molecule metabolic process; small molecule metabolic process; nucleobase-containing small molecule interconversion; purine nucleotide metabolic process | 1q32-q41 |
| GULOP | - | 8p21.1 |
| GULP1 | apoptotic process; phagocytosis, engulfment; lipid transport; transport; signal transduction | 2q32.3-q33 |
| GUSB | glycosaminoglycan catabolic process; carbohydrate metabolic process | 7q21.11 |
| GUSBP1 | - | 5p14.3 |
| GUSBP10 | - | 7p11.2 |
| GUSBP11 | - | 22q11.23 |
| GUSBP12 | - | 7p11.2 |
| GUSBP2 | - | 6p21 |
| GUSBP3 | - | 5q13.2 |
| GUSBP4 | - | 6p11.2 |
| GUSBP5 | - | 4q31.21 |
| GVINP1 | - | 11p15.4 |
| GVINP2 | - | 11p15.4 |
| GVQW2 | - | - |
| GXYLT1 | O-glycan processing | 12q12 |
| GXYLT1P1 | - | 13q11 |
| GXYLT1P2 | - | 21q11.2 |
| GXYLT2 | O-glycan processing | 3p13 |
| GYG1 | small molecule metabolic process; glucose metabolic process; glycogen catabolic process; glycogen biosynthetic process; carbohydrate metabolic process | 3q24-q25.1 |
| GYG1P2 | - | 13q31.1 |
| GYG1P3 | - | 1p32.3 |
| GYG2 | small molecule metabolic process; glucose metabolic process; glycogen catabolic process; glycogen biosynthetic process; carbohydrate metabolic process | Xp22.3 |
| GYG2P1 | - | Yq11.21 |
| GYLTL1B | muscle cell homeostasis | 11p11.2 |
| GYPA | cytoskeletal anchoring at plasma membrane; interspecies interaction between organisms; regulation of response to osmotic stress | 4q31.21 |
| GYPB | - | 4q31.21 |
| GYPC | - | 2q14-q21 |
| GYPE | - | 4q31.1 |
| GYS1 | small molecule metabolic process; carbohydrate metabolic process; glycogen biosynthetic process; glucose metabolic process; heart development | 19q13.3 |
| GYS2 | carbohydrate metabolic process; glycogen biosynthetic process; glucose metabolic process; generation of precursor metabolites and energy; response to glucose stimulus; small molecule metabolic process | 12p12.2 |
| GZF1 | negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; branching involved in ureteric bud morphogenesis | 20p11.21 |
| GZMA | cleavage of lamin; proteolysis involved in cellular protein catabolic process; negative regulation of oxidoreductase activity; negative regulation of DNA binding; positive regulation of apoptotic process; negative regulation of endodeoxyribonuclease activity; cytolysis; immune response; apoptotic process | 5q11-q12 |
| GZMB | proteolysis; apoptotic process; cleavage of lamin; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; cytolysis | 14q11.2 |
| GZMH | apoptotic process; proteolysis; cytolysis | 14q11.2 |
| GZMM | proteolysis; apoptotic process; cytolysis; innate immune response | 19p13.3 |
| H19 | - | 11p15.5 |
| H1F0 | DNA fragmentation involved in apoptotic nuclear change; cellular component disassembly involved in apoptosis; apoptotic process; nucleosome assembly | 22q13.1 |
| H1FOO | meiosis; nucleosome assembly | 3q22.1 |
| H1FX | nucleosome assembly | 3q21.3 |
| H2AFB3 | - | Xq28 |
| H2AFJ | nucleosome assembly | 12p12.3 |
| H2AFV | nucleosome assembly | 7p13 |
| H2AFX | nucleosome assembly; positive regulation of DNA repair; response to ionizing radiation; meiosis; cell cycle; response to DNA damage stimulus; DNA recombination; double-strand break repair; DNA repair; double-strand break repair via homologous recombination; DNA damage checkpoint | 11q23.3 |
| H2AFY | chromatin modification; dosage compensation; nucleosome assembly | 5q31.1 |
| H2AFY2 | nucleosome assembly; dosage compensation; chromatin modification | 10q22.1 |
| H2AFZ | nucleosome assembly | 4q24 |
| H2AFZP6 | - | - |
| H2BFS | defense response to bacterium; nucleosome assembly | 21q22.3 |
| H2BFXP | - | Xq22.2 |
| H3.Y | - | 5p15.1 |
| H3F3AP1 | - | 15q15.1 |
| H3F3AP4 | - | 2q31.1 |
| H3F3AP5 | - | Xp11.22 |
| H3F3B | nucleosome assembly; blood coagulation | 17q25.1 |
| H3F3BP1 | - | 13q21.33 |
| H3F3C | nucleosome assembly | 12p11.21 |
| H6PD | carbohydrate metabolic process; glucose metabolic process; pentose-phosphate shunt; NADP metabolic process | 1p36 |
| HAAO | neuron homeostasis; response to cadmium ion; small molecule metabolic process; tryptophan catabolic process; response to zinc ion; pyridine nucleotide biosynthetic process; quinolinate biosynthetic process; cellular nitrogen compound metabolic process | 2p21 |
| HABP2 | proteolysis; cell adhesion | 10q25.3 |
| HABP4 | negative regulation of DNA binding; platelet degranulation; regulation of transcription, DNA-dependent; blood coagulation; platelet activation; cellular response to mechanical stimulus | 9q22.3-q31 |
| HACD1 | multicellular organismal development; protein dephosphorylation; fatty acid biosynthetic process; signal transduction; peptidyl-tyrosine dephosphorylation | 10p14-p13 |
| HACD2 | fatty acid biosynthetic process | 3q21.1 |
| HACD3 | activation of JUN kinase activity; Rac protein signal transduction; Rho protein signal transduction; small GTPase mediated signal transduction; I-kappaB kinase/NF-kappaB cascade; fatty acid biosynthetic process; positive regulation of GTPase activity | 15q22.2 |
| HACD4 | fatty acid biosynthetic process | 9p21.3 |
| HACE1 | protein modification process; Rac protein signal transduction; regulation of cell migration; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein K48-linked ubiquitination; protein ubiquitination; cell cycle; cellular membrane fusion; regulation of transcription, DNA-dependent; Golgi organization | 6q16.3 |
| HACL1 | small molecule metabolic process; fatty acid alpha-oxidation; cellular lipid metabolic process; protein oligomerization | 3p25.1 |
| HADH | fatty acid metabolic process; small molecule metabolic process; fatty acid beta-oxidation; response to hormone stimulus; response to activity; response to insulin stimulus; response to drug; cellular lipid metabolic process; negative regulation of insulin secretion | 4q22-q26 |
| HADHA | small molecule metabolic process; cellular lipid metabolic process; response to drug; response to insulin stimulus; fatty acid beta-oxidation; fatty acid metabolic process | 2p23 |
| HADHAP1 | - | 4q32 |
| HADHAP2 | - | 12p13.31 |
| HADHB | fatty acid metabolic process; fatty acid beta-oxidation; small molecule metabolic process; oxidation-reduction process; cellular lipid metabolic process | 2p23 |
| HAGH | carbohydrate metabolic process; glutathione biosynthetic process; metabolic process | 16p13.3 |
| HAGHL | - | 16p13.3 |
| HAGLR | - | 2q31.2 |
| HAGLROS | - | 2q31.2 |
| HAL | histidine catabolic process; biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 12q22-q24.1 |
| HAND2 | peripheral nervous system neuron development; noradrenergic neuron differentiation; regulation of secondary heart field cardioblast proliferation; cardiac neural crest cell migration involved in outflow tract morphogenesis; cardiac right ventricle formation; heart morphogenesis; heart looping; in utero embryonic development; angiogenesis; palate development; cell differentiation; thymus development; sympathetic nervous system development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of osteoblast differentiation; embryonic digit morphogenesis; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of DNA binding; negative regulation of apoptotic process; cell proliferation involved in outflow tract morphogenesis; odontogenesis of dentin-containing tooth; neural crest cell development; negative regulation of cardiac muscle cell apoptosis; mesenchymal cell proliferat | 4q33 |
| HAND2-AS1 | - | 4q34.1 |
| HAO2 | fatty acid oxidation; protein homooligomerization; mandelate metabolic process | 1p13.3-p13.1 |
| HAO2-IT1 | - | - |
| HAP1 | synaptic transmission; brain development; protein localization | 17q21.2-q21.3 |
| HAPLN1 | cell adhesion | 5q14.3 |
| HAPLN3 | cell adhesion | 15q26.1 |
| HAPLN4 | cell adhesion | 19p13.1 |
| HAR1A | - | 20q13.33 |
| HARBI1 | - | 11p11.2 |
| HARS2 | gene expression; translation; tRNA aminoacylation for protein translation; histidyl-tRNA aminoacylation | 5q31.3 |
| HAS1 | glycosaminoglycan biosynthetic process; cell adhesion; hyaluronan biosynthetic process | 19q13.4 |
| HAS2 | hyaluronan biosynthetic process; positive regulation of urine volume; renal water absorption | 8q24.12 |
| HAS2-AS1 | - | 8q24.13 |
| HAS3 | carbohydrate metabolic process; hyaluronan biosynthetic process; positive regulation of transcription, DNA-dependent | 16q22.1 |
| HAT1 | DNA packaging; histone acetylation; chromatin modification; response to nutrient; internal protein amino acid acetylation; chromatin silencing at telomere | 2q31.2-q33.1 |
| HAUS1 | spindle assembly; cell cycle; mitosis; centrosome organization; cell division | 18q21.1 |
| HAUS2 | mitotic cell cycle; G2/M transition of mitotic cell cycle; mitosis; spindle assembly; centrosome organization; cell division | 15q15.2 |
| HAUS3 | cell cycle; spindle assembly; centrosome organization; mitosis; cell division | 4p16.3 |
| HAUS4 | mitosis; cell cycle; centrosome organization; cell division; spindle assembly | 14q11.2 |
| HAUS4P1 | - | 1q24.2 |
| HAUS5 | mitosis; cell cycle; cell division; centrosome organization; spindle assembly | 19q13.12 |
| HAUS6 | spindle assembly; cell cycle; cell division; centrosome organization; mitosis | 9p22.1 |
| HAUS6P1 | - | 7p12.1 |
| HAUS6P2 | - | 20q11.21 |
| HAUS7 | mitosis; cell division; cell cycle; centrosome organization; spindle assembly | Xq28 |
| HAUS8 | cell cycle; mitosis; spindle assembly; centrosome organization; cell division | 19p13.11 |
| HAVCR1 | interspecies interaction between organisms | 5q33.2 |
| HAVCR1P1 | - | 19p |
| HAVCR2 | - | 5q33.3 |
| HAX1 | - | 1q21.3 |
| HBA1 | - | 16p13.3 |
| HBA2 | transport; positive regulation of cell death; oxygen transport; response to hydrogen peroxide; hydrogen peroxide catabolic process; protein heterooligomerization | 16p13.3 |
| HBB | blood coagulation; protein heterooligomerization; regulation of blood vessel size; positive regulation of nitric oxide biosynthetic process; hydrogen peroxide catabolic process; nitric oxide transport; oxygen transport; positive regulation of cell death; regulation of blood pressure; transport; response to hydrogen peroxide | 11p15.5 |
| HBBP1 | - | 11p15.5 |
| HBCBP | - | 12q13.3 |
| HBD | transport; blood coagulation | 11p15.5 |
| HBE1 | negative regulation of transcription from RNA polymerase II promoter; transport; blood coagulation; oxygen transport | 11p15.5 |
| HBEGF | negative regulation of elastin biosynthetic process; positive regulation of wound healing; positive regulation of protein kinase B signaling cascade; positive regulation of keratinocyte migration; positive regulation of smooth muscle cell proliferation; wound healing, spreading of epidermal cells; positive regulation of cell migration; positive regulation of cell growth; regulation of heart contraction; muscle organ development; epidermal growth factor receptor signaling pathway; signal transduction | 5q23 |
| HBG1 | blood coagulation; transport | 11p15.5 |
| HBG2 | transport; blood coagulation | 11p15.5 |
| HBP1 | regulation of transcription, DNA-dependent; cell cycle arrest; Wnt receptor signaling pathway | 7q22-q31 |
| HBQ1 | transport; oxygen transport | 16p13.3 |
| HBS1L | translation; signal transduction | 6q23.3 |
| HBZ | negative regulation of transcription from RNA polymerase II promoter; transport; oxygen transport; erythrocyte maturation | 16p13.3 |
| HBZP1 | - | 16p13.3 |
| HCAR1 | response to estradiol stimulus | 12q24.31 |
| HCAR2 | apoptotic process; neutrophil apoptosis; positive regulation of adiponectin secretion; positive regulation of neutrophil apoptosis; negative regulation of lipid catabolic process | 12q24.31 |
| HCAR3 | G-protein coupled receptor signaling pathway | 12q24.31 |
| HCCAT4 | - | 9q34.3 |
| HCCAT5 | - | 16q22.3 |
| HCCS | organ morphogenesis; oxidation-reduction process | Xp22.3 |
| HCFC1 | negative regulation of transcription from RNA polymerase II promoter; protein stabilization; positive regulation of cell cycle; interspecies interaction between organisms; histone H4-K16 acetylation; histone H4-K8 acetylation; histone H4-K5 acetylation; regulation of protein complex assembly; reactivation of latent virus; positive regulation of gene expression; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | Xq28 |
| HCFC1R1 | - | 16p13.3 |
| HCFC2 | viral reproduction; regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter | 12q23.3 |
| HCFC2P1 | - | - |
| HCG11 | - | 6p22.2 |
| HCG14 | - | 6p21 |
| HCG15 | - | 6p21 |
| HCG16 | - | 6p21.3 |
| HCG17 | - | 6p21 |
| HCG18 | - | 6p21.3 |
| HCG19P | - | 6p21.3 |
| HCG20 | - | 6p21 |
| HCG22 | - | 6p21.33 |
| HCG24 | - | 6p21 |
| HCG25 | - | 6p21 |
| HCG26 | - | 6p21.3 |
| HCG27 | - | 6p21.33 |
| HCG4 | - | 6p21.3 |
| HCG4B | - | 6p21.3 |
| HCG4P4 | - | 6p21.3 |
| HCG4P7 | - | 6p21.3 |
| HCG8 | - | 6p21.3 |
| HCK | leukocyte degranulation; negative regulation of apoptotic process; interspecies interaction between organisms; innate immune response; respiratory burst after phagocytosis; protein autophosphorylation; regulation of defense response to virus by virus; regulation of inflammatory response; regulation of phagocytosis; defense response to Gram-positive bacterium; regulation of sequence-specific DNA binding transcription factor activity; interferon-gamma-mediated signaling pathway; regulation of podosome assembly; positive regulation of actin cytoskeleton reorganization; lipopolysaccharide-mediated signaling pathway; leukocyte migration involved in immune response; innate immune response-activating signal transduction; protein phosphorylation; exocytosis; cell adhesion; integrin-mediated signaling pathway; mesoderm development; positive regulation of cell proliferation; regulation of cell shape; viral reproduction; peptidyl-tyrosine phosphorylation; cytokine-mediated signaling pathway; positive regulation of actin | 20q11-q12 |
| HCLS1 | regulation of transcription, DNA-dependent; positive regulation of cell proliferation; response to hormone stimulus; erythrocyte differentiation; intracellular signal transduction; positive regulation of tyrosine phosphorylation of STAT protein | 3q13 |
| HCN1 | transmembrane transport; ion transport; apical protein localization; retinal cone cell development; potassium ion transport; synaptic transmission; potassium ion transmembrane transport | 5p12 |
| HCN2 | potassium ion transport; cation transport; muscle contraction; cell-cell signaling; synaptic transmission; brain development; aging; response to hormone stimulus; regulation of membrane potential; response to drug; positive regulation of heart contraction; transmembrane transport | 19p13.3 |
| HCN3 | transmembrane transport; ion transport; potassium ion transport; synaptic transmission | 1q22 |
| HCN4 | potassium ion transport; regulation of heart contraction; blood circulation; synaptic transmission; in utero embryonic development; cation transport; muscle contraction | 15q24.1 |
| HCP5 | defense response | 6p21.3 |
| HCP5B | - | 6p21.3 |
| HCRT | negative regulation of potassium ion transport; eating behavior; negative regulation of DNA replication; synaptic transmission; neuropeptide signaling pathway; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; elevation of cytosolic calcium ion concentration; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; regulation of neurotransmitter secretion; positive regulation of calcium ion transport; negative regulation of transmission of nerve impulse; positive regulation of transmission of nerve impulse; regulation of excitatory postsynaptic membrane potential | 17q21 |
| HCRTR1 | neuropeptide signaling pathway; synaptic transmission; feeding behavior | 1p33 |
| HCRTR2 | neuropeptide signaling pathway; feeding behavior; synaptic transmission; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger | 6p12 |
| HCST | regulation of immune response | 19q13.1 |
| HDAC1 | negative regulation of apoptotic process; embryonic digit morphogenesis; negative regulation by host of viral transcription; interspecies interaction between organisms; negative regulation of cell cycle; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; negative regulation of androgen receptor signaling pathway; hair follicle placode formation; eyelid development in camera-type eye; fungiform papilla formation; histone H3 deacetylation; histone H4 deacetylation; odontogenesis of dentin-containing tooth; negative regulation of transcription from RNA polymerase II promoter; mitotic cell cycle; chromatin remodeling; regulation of transcription, DNA-dependent; protein deacetylation; anti-apoptosis; blood coagulation; epidermal cell differentiation; negative regulation of myotube differentiation; positive regulation of receptor biosynthetic pr | 1p34 |
| HDAC10 | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; oligodendrocyte development; protein deacetylation; negative regulation of transcription, DNA-dependent; histone deacetylation; chromatin modification | 22q13.31 |
| HDAC11 | chromatin modification; histone deacetylation; oligodendrocyte development; regulation of transcription, DNA-dependent | 3p25.1 |
| HDAC11-AS1 | - | - |
| HDAC1P1 | - | 10q23.33 |
| HDAC1P2 | - | - |
| HDAC2 | embryonic digit morphogenesis; negative regulation of apoptotic process; negative regulation of MHC class II biosynthetic process; negative regulation of cell cycle; positive regulation of proteolysis; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; hair follicle placode formation; eyelid development in camera-type eye; fungiform papilla formation; negative regulation of sequence-specific DNA binding transcription factor activity; positive regulation of collagen biosynthetic process; odontogenesis of dentin-containing tooth; histone deacetylation; dendrite development; negative regulation of neuron projection development; positive regulation of receptor biosynthetic process; epidermal cell differentiation; positive regulation of cell proliferation; blood coagulation; maintenance of chromatin silencing; chromatin remodeling; negative reg | 6q21 |
| HDAC3 | negative regulation of transcription from RNA polymerase II promoter; protein deacetylation; negative regulation of transcription, DNA-dependent; regulation of multicellular organism growth; response to drug; cellular lipid metabolic process; small molecule metabolic process; negative regulation of cell cycle; negative regulation of JNK cascade; nerve growth factor receptor signaling pathway; spindle assembly; circadian regulation of gene expression; anti-apoptosis; regulation of mitotic cell cycle; negative regulation of myotube differentiation; histone deacetylation; chromatin modification | 5q31 |
| HDAC4 | skeletal system development; osteoblast development; chromatin remodeling; negative regulation of transcription from RNA polymerase II promoter; inflammatory response; negative regulation of myotube differentiation; regulation of cardiac muscle contraction by calcium ion signaling; response to denervation involved in regulation of muscle adaptation; negative regulation of cell proliferation; B cell activation; positive regulation of cell proliferation; nervous system development; chromatin modification; histone H4 deacetylation; histone H3 deacetylation; response to interleukin-1; positive regulation of sequence-specific DNA binding transcription factor activity; regulation of skeletal muscle fiber development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of glycolysis; negative regulation of osteoblast differentiation; regulation of protein binding; negative r | 2q37.3 |
| HDAC5 | chromatin modification; negative regulation of transcription from RNA polymerase II promoter; regulation of protein binding; chromatin organization; chromatin remodeling; chromatin silencing; inflammatory response; regulation of myotube differentiation; negative regulation of myotube differentiation; positive regulation of sequence-specific DNA binding transcription factor activity; histone deacetylation; B cell differentiation; negative regulation of cell migration involved in sprouting angiogenesis; cellular response to insulin stimulus; B cell activation; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 17q21 |
| HDAC6 | regulation of microtubule-based movement; cellular response to topologically incorrect protein; positive regulation of apoptotic process; protein polyubiquitination; protein deacetylation; negative regulation of protein complex disassembly; negative regulation of proteolysis; negative regulation of transcription, DNA-dependent; negative regulation of oxidoreductase activity; response to misfolded protein; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; regulation of androgen receptor signaling pathway; cellular response to hydrogen peroxide; aggresome assembly; polyubiquitinated misfolded protein transport; Hsp90 deacetylation; response to growth factor stimulus; cellular response to misfolded protein; positive regulation of chaperone-mediated protein complex assembly; tubulin deacetylation; lysosome localization; misfolded or incompletely synthesized protein catabolic process; intracellular protein transport; negative regulation of microtubule depolymerization; resp | Xp11.23 |
| HDAC7 | negative regulation of transcription from RNA polymerase II promoter; vasculogenesis; cell-cell junction assembly; chromatin modification; negative regulation of interleukin-2 production; negative regulation of osteoblast differentiation; positive regulation of cell migration involved in sprouting angiogenesis | 12q13.1 |
| HDAC8 | histone deacetylation; chromatin modification; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; chromatin assembly or disassembly | Xq13 |
| HDAC9 | positive regulation of cell migration involved in sprouting angiogenesis; histone H4 deacetylation; histone H3 deacetylation; regulation of striated muscle cell differentiation; regulation of skeletal muscle fiber development; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; B cell activation; peptidyl-lysine deacetylation; cellular response to insulin stimulus; B cell differentiation; histone deacetylation; chromatin modification; inflammatory response; heart development | 7p21.1 |
| HDC | histamine metabolic process; small molecule metabolic process; catecholamine biosynthetic process; cellular nitrogen compound metabolic process; histidine catabolic process; histidine metabolic process; cellular amino acid metabolic process | 15q21-q22 |
| HDDC2 | - | 6q13-q24.3 |
| HDDC3 | guanosine tetraphosphate metabolic process | 15q26.1 |
| HDGF | regulation of transcription, DNA-dependent; activation of signaling protein activity involved in unfolded protein response; signal transduction; cell proliferation; cellular process; endoplasmic reticulum unfolded protein response | 1q21-q23 |
| HDGFRP2 | - | 19p13.3 |
| HDGFRP3 | - | 15q25.2 |
| HDHD1P2 | - | 1q21.3 |
| HDHD1P3 | - | 20q11.21 |
| HDHD2 | metabolic process | 18q21.1 |
| HDHD3 | metabolic process | 9q32 |
| HDLBP | cholesterol metabolic process; steroid metabolic process; transport; lipid transport | 2q37.3 |
| HDX | - | Xq21.1 |
| HEATR1 | rRNA processing | 1q43 |
| HEATR3 | - | 16q12.1 |
| HEATR4 | - | 14q24.3 |
| HEATR5A | - | 14q12 |
| HEATR5B | - | 2p22.2 |
| HEATR6 | - | 17q23.1 |
| HEATR9 | - | 17q12 |
| HEBP1 | circadian rhythm | 12p13.1 |
| HEBP2 | - | 6q24 |
| HECA | respiratory tube development; multicellular organismal development | 6q23-q24 |
| HECTD1 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein modification process | 14q12 |
| HECTD2 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein modification process | 10q23.32 |
| HECTD2-AS1 | - | 10q23.32 |
| HECTD3 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; protein modification process | 1p34.1 |
| HECTD4 | - | 12q24.13 |
| HECW1 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein modification process | 7p13 |
| HECW1-IT1 | - | 7p14.1 |
| HECW2 | protein modification process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 2q32.3 |
| HEG1 | post-embryonic development; venous blood vessel morphogenesis; ventricular septum development; cardiac atrium morphogenesis; lymph circulation; lymph vessel development; endothelial cell morphogenesis; in utero embryonic development; vasculogenesis; lung development; regulation of body fluid levels; cell-cell junction organization; multicellular organism growth; pericardium development | 3q21.2 |
| HEIH | - | 5q35.3 |
| HELB | DNA replication, synthesis of RNA primer; DNA replication | 12q14.3|12q |
| HELLPAR | - | 12q23 |
| HELLS | centromeric heterochromatin assembly; cell division; lymphocyte proliferation; maintenance of DNA methylation; multicellular organismal development; mitosis; cell cycle; anti-apoptosis; regulation of transcription, DNA-dependent; methylation-dependent chromatin silencing; urogenital system development | 10q24.2 |
| HELQ | - | 4q21.23 |
| HELZ | - | 17q24.2 |
| HELZ2 | - | 20q13.33 |
| HEMGN | multicellular organismal development; cell differentiation; regulation of osteoblast differentiation | 9q22.33 |
| HEMK1 | DNA methylation | 3p21.3 |
| HENMT1 | RNA methylation; gene silencing by RNA; piRNA metabolic process | 1p13.3 |
| HEPACAM | cell cycle arrest; cell adhesion; regulation of growth; cell cycle | 11q24.2 |
| HEPACAM2 | - | 7q21.3 |
| HEPH | cellular iron ion homeostasis; erythrocyte differentiation; transmembrane transport; copper ion transport; ion transport | Xq11-q12 |
| HEPHL1 | ion transport; copper ion transport | 11q21 |
| HEPN1 | - | 11q24 |
| HERC1 | transport; protein modification process | 15q22 |
| HERC2 | protein ubiquitination; spermatogenesis; intracellular protein transport; protein modification process; DNA repair; protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 15q13 |
| HERC2P10 | - | 15q13.2 |
| HERC2P2 | - | 15q11.2 |
| HERC2P3 | spermatogenesis | 15q11.1 |
| HERC2P7 | - | 15q11.2 |
| HERC2P9 | - | 15q13.1 |
| HERC3 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein modification process | 4q21 |
| HERC4 | protein modification process; spermatogenesis; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; cell differentiation | 10q21.3 |
| HERC5 | response to virus; regulation of cyclin-dependent protein kinase activity; cytokine-mediated signaling pathway; ISG15-protein conjugation; negative regulation of type I interferon production; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; innate immune response; regulation of defense response to virus | 4q22.1 |
| HERC6 | protein modification process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 4q22.1 |
| HERPUD1 | cellular calcium ion homeostasis; response to stress; response to unfolded protein; activation of signaling protein activity involved in unfolded protein response; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; endoplasmic reticulum unfolded protein response | 16q13 |
| HERPUD2 | response to unfolded protein; spermatogenesis | 7p14.2 |
| HES1 | regulation of fat cell differentiation; neural tube development; adenohypophysis development; lung development; positive regulation of BMP signaling pathway; midbrain development; endocrine pancreas development; somatic stem cell maintenance; positive regulation of T cell proliferation; positive regulation of tyrosine phosphorylation of Stat3 protein; auditory receptor cell fate determination; positive regulation of DNA binding; cell fate commitment; trochlear nerve development; negative regulation of auditory receptor cell differentiation; positive regulation of Notch signaling pathway; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; lateral inhibition; positive regulation of JAK-STAT cascade; cell maturation; thymus development; outflow tract morphogenesis; positive regulation of cell proliferation; nervous system development; pattern specification process; STAT protein import into nucleus; smoothened signaling pathway; Notch signali | 3q28-q29 |
| HES2 | negative regulation of transcription, DNA-dependent | 1p36.31 |
| HES4 | cell differentiation; regulation of transcription, DNA-dependent; multicellular organismal development; nervous system development | 1p36.33 |
| HES5 | comma-shaped body morphogenesis; cell maturation; negative regulation of transcription from RNA polymerase II promoter; auditory receptor cell differentiation; central nervous system myelination; protein complex assembly; cell adhesion; Notch signaling pathway; smoothened signaling pathway; multicellular organismal development; brain development; positive regulation of cell proliferation; oligodendrocyte development; telencephalon development; glial cell fate commitment; neural tube development; positive regulation of JAK-STAT cascade; positive regulation of BMP signaling pathway; regulation of myelination; chondrocyte differentiation; positive regulation of tyrosine phosphorylation of Stat3 protein; auditory receptor cell fate determination; camera-type eye development; regulation of cell differentiation; negative regulation of neuron differentiation; positive regulation of Notch signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase I | 1p36.32 |
| HES6 | nervous system development; cell differentiation; regulation of transcription, DNA-dependent; multicellular organismal development; regulation of transcription from RNA polymerase II promoter | 2q37.3 |
| HES7 | mesoderm development; multicellular organismal development; regulation of transcription, DNA-dependent | 17p13.1 |
| HESX1 | otic vesicle formation; forebrain morphogenesis; negative regulation of transcription, DNA-dependent; multicellular organismal development; brain development; nose development | 3p14.3 |
| HEXA | carbohydrate metabolic process; sphingolipid metabolic process; glycosphingolipid metabolic process; ganglioside catabolic process; lysosome organization; sensory perception of sound; locomotory behavior; adult walking behavior; cell death; lipid storage; sexual reproduction; glycosaminoglycan metabolic process; myelination; small molecule metabolic process; cell morphogenesis involved in neuron differentiation; neuromuscular process controlling posture; neuromuscular process controlling balance; skeletal system development | 15q24.1 |
| HEXA-AS1 | - | 15q23 |
| HEXB | lysosome organization; lipid storage; oligosaccharide catabolic process; phospholipid biosynthetic process; cell death; male courtship behavior; locomotory behavior; sensory perception of sound; penetration of zona pellucida; glycosaminoglycan metabolic process; cellular calcium ion homeostasis; ganglioside catabolic process; glycosphingolipid metabolic process; sphingolipid metabolic process; N-acetylglucosamine metabolic process; carbohydrate metabolic process; skeletal system development; myelination; cellular protein metabolic process; small molecule metabolic process; oogenesis; neuromuscular process controlling balance; regulation of cellular metabolic process; sexual reproduction | 5q13 |
| HEXDC | carbohydrate metabolic process | 17q25.3 |
| HEXDC-IT1 | - | 17q25.3 |
| HEXIM1 | heart development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of cyclin-dependent protein kinase activity | 17q21.31 |
| HEXIM2 | negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cyclin-dependent protein kinase activity | 17q21.31 |
| HEY1 | negative regulation of transcription regulatory region DNA binding; negative regulation of transcription from RNA polymerase II promoter; angiogenesis; Notch signaling pathway; epithelial to mesenchymal transition involved in endocardial cushion formation; multicellular organismal development; negative regulation of Notch signaling pathway; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation | 8q21 |
| HEY2 | negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation; negative regulation of transcription, DNA-dependent; negative regulation of Notch signaling pathway; negative regulation of cardiac vascular smooth muscle cell differentiation; negative regulation of transcription regulatory region DNA binding; vascular smooth muscle cell development; negative regulation of transcription initiation from RNA polymerase II promoter; cochlea development; regulation of auditory receptor cell differentiation; cell fate commitment; cardiac muscle hypertrophy in response to stress; negative regulation of cardiac muscle cell apoptosis; negative regulation of gene expression; negative regulation of transcription by transcription factor localization; positive regulation of heart rate; anterior/posterior axis specification; pattern specification process; Notch signaling pathway; ventricular trabecula myocardium morphogenesis; cardiac ventricle morphogenesis; endocardial c | 6q21 |
| HEYL | positive regulation of neuron differentiation; glomerulus development; proximal tubule development; multicellular organismal development; Notch signaling pathway; epithelial to mesenchymal transition involved in endocardial cushion formation; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of androgen receptor signaling pathway; cellular response to BMP stimulus; negative regulation of androgen receptor activity | 1p34.3 |
| HFE | hormone biosynthetic process; multicellular organismal iron ion homeostasis; cellular response to iron ion starvation; female pregnancy; immune response; receptor-mediated endocytosis; antigen processing and presentation; iron ion transport; cellular iron ion homeostasis; ion transport; antigen processing and presentation of peptide antigen via MHC class I; protein complex assembly | 6p21.3 |
| HFE2 | axon guidance | 1q21.1 |
| HFM1 | - | 1p22.2 |
| HGC6.3 | - | 6q27 |
| HGD | tyrosine catabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; L-phenylalanine catabolic process; cellular amino acid metabolic process | 3q13.33 |
| HGF | platelet activation; positive regulation of DNA biosynthetic process; regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling; cell chemotaxis; myoblast proliferation; positive regulation of peptidyl-tyrosine phosphorylation; hepatocyte growth factor receptor signaling pathway; cellular response to hepatocyte growth factor stimulus; organ regeneration; blood coagulation; mitosis; anti-apoptosis; proteolysis; platelet degranulation; liver development; epithelial to mesenchymal transition; cell morphogenesis; activation of MAPK activity | 7q21.1 |
| HGFAC | proteolysis | 4p16 |
| HGH1 | - | 8q24.3 |
| HGS | negative regulation of JAK-STAT cascade; negative regulation of cell proliferation; endosome to lysosome transport; negative regulation of epidermal growth factor receptor signaling pathway; regulation of protein catabolic process; epidermal growth factor receptor signaling pathway; cellular membrane organization; endosome transport; intracellular protein transport; signal transduction | 17q25 |
| HGSNAT | protein oligomerization; lysosomal transport | 8p11.1 |
| HHAT | multicellular organismal development | 1q32 |
| HHATL | negative regulation of N-terminal protein palmitoylation | 3p22.1 |
| HHEX | primitive streak formation; interkinetic nuclear migration; hemopoiesis; cell differentiation; positive regulation of Wnt receptor signaling pathway; B cell differentiation; thyroid gland development; negative regulation of vascular endothelial growth factor receptor signaling pathway; pancreas development; protein localization to nucleus; embryonic heart tube development; multicellular organism growth; regulation of cell proliferation; embryonic organ development; gall bladder development; DNA conformation change; hepatocyte differentiation; hepatoblast differentiation; hepatic duct development; common bile duct development; primary lung bud formation; forebrain morphogenesis; response to peptide hormone stimulus; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of angiogenesis; poly(A)+ mRNA export from nucleus; negative regulation of transcription from RNA polymerase II promoter; vasculogenesis; in utero embryonic | 10q23.33 |
| HHIP | skeletal system morphogenesis; carbohydrate metabolic process; neuroblast proliferation; dorsal/ventral pattern formation; negative regulation of signal transduction; regulation of fibroblast growth factor receptor signaling pathway; negative regulation of smoothened signaling pathway; epithelial tube branching involved in lung morphogenesis | 4q28-q32 |
| HHIP-AS1 | - | 4q31.21 |
| HHIPL1 | carbohydrate metabolic process | 14q32 |
| HHIPL2 | carbohydrate metabolic process | 1q41 |
| HHLA1 | - | 8q24 |
| HHLA2 | - | 3q13.13 |
| HHLA3 | - | 1p31.1 |
| HIBADH | small molecule metabolic process; cellular nitrogen compound metabolic process; branched chain family amino acid catabolic process; valine metabolic process; pentose-phosphate shunt | 7p15.2 |
| HIBCH | small molecule metabolic process; branched chain family amino acid catabolic process; cellular nitrogen compound metabolic process | 2q32.2 |
| HIC1 | negative regulation of Wnt receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; DNA damage response, signal transduction resulting in induction of apoptosis; positive regulation of DNA damage response, signal transduction by p53 class mediator | 17p13.3 |
| HIC2 | negative regulation of transcription, DNA-dependent | 22q11.21 |
| HID1 | - | 17q25.1 |
| HIF1A | regulation of transcription from RNA polymerase II promoter in response to oxidative stress; positive regulation of epithelial cell migration; mRNA transcription from RNA polymerase II promoter; glucose homeostasis; hemoglobin biosynthetic process; embryonic hemopoiesis; collagen metabolic process; regulation of transforming growth factor beta2 production; cellular response to insulin stimulus; positive regulation of chemokine production; oxygen homeostasis; positive regulation of vascular endothelial growth factor receptor signaling pathway; negative regulation of bone mineralization; neural fold elevation formation; response to muscle activity; positive regulation of receptor biosynthetic process; cell differentiation; positive regulation of smooth muscle cell proliferation; negative regulation of mesenchymal cell apoptosis; cellular response to hypoxia; cellular response to interleukin-1; positive regulation of chemokine-mediated signaling pathway; elastin metabolic process; cartilage development; positive | 14q23.2 |
| HIF1A-AS1 | - | 14q23.2 |
| HIF1A-AS2 | - | 14q23.2 |
| HIF1AN | regulation of transcription, DNA-dependent; peptidyl-asparagine hydroxylation; oxidation-reduction process | 10q24 |
| HIF3A | response to hypoxia; positive regulation of transcription from RNA polymerase II promoter | 19q13.32 |
| HIGD1A | response to stress | 3p22.1 |
| HIGD1AP1 | - | 12q13.13 |
| HIGD1AP14 | - | - |
| HIGD1AP15 | - | 20p12.2 |
| HIGD1AP16 | - | - |
| HIGD1AP2 | - | - |
| HIGD1AP3 | - | - |
| HIGD1AP4 | - | - |
| HIGD1C | - | 12q13.12 |
| HIGD2A | - | 5q35.2 |
| HILPDA | autocrine signaling; positive regulation of lipid storage; response to stress; positive regulation of cell proliferation; positive regulation of cytokine production | 7q32.1 |
| HILS1 | cell differentiation; regulation of transcription, DNA-dependent; multicellular organismal development; germ cell development; spermatogenesis; nucleosome assembly; chromatin remodeling; chromatin silencing; chromosome condensation | 17q21.33 |
| HINFP | DNA damage checkpoint; positive regulation of transcription, DNA-dependent; G1/S transition of mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; in utero embryonic development; DNA repair; regulation of transcription, DNA-dependent; regulation of gene expression; positive regulation of gene expression; negative regulation of gene expression; establishment of protein localization; myoblast differentiation; negative regulation of transcription, DNA-dependent | 11q23.3 |
| HINT1 | signal transduction | 5q31.2 |
| HINT1P1 | - | 7q34 |
| HINT2 | apoptotic process; steroid biosynthetic process | 9p13.3 |
| HINT3 | - | 6q22.32 |
| HIP1 | regulation of transcription, DNA-dependent; endocytosis; apoptotic process; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; cell death; cell differentiation; regulation of apoptotic process; positive regulation of receptor-mediated endocytosis; clathrin coat assembly | 7q11.23 |
| HIP1R | receptor-mediated endocytosis | 12q24 |
| HIPK1 | eye development; regulation of tumor necrosis factor-mediated signaling pathway; regulation of transcription, DNA-dependent; apoptotic process; positive regulation of angiogenesis; definitive hemopoiesis | 1p13.2 |
| HIPK1-AS1 | - | - |
| HIPK2 | embryonic camera-type eye morphogenesis; negative regulation of BMP signaling pathway; negative regulation of transcription from RNA polymerase II promoter; eye development; protein phosphorylation; apoptotic process; response to DNA damage stimulus; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; smoothened signaling pathway; adult walking behavior; positive regulation of cell proliferation; induction of apoptosis by intracellular signals; anterior/posterior pattern specification; retina layer formation; positive regulation of sequence-specific DNA binding transcription factor activity; voluntary musculoskeletal movement; peptidyl-serine phosphorylation; positive regulation of JNK cascade; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of angiogenesis; negative regulation of neuron apoptosis; positive regulation of DNA binding; DNA damage response, s | 7q32-q34 |
| HIPK3 | protein phosphorylation; apoptotic process; anti-apoptosis; mRNA transcription; peptidyl-serine phosphorylation; regulation of transcription, DNA-dependent; peptidyl-threonine phosphorylation; negative regulation of JUN kinase activity | 11p13 |
| HIPK4 | - | 19q13.2 |
| HIRA | chromatin modification; anatomical structure morphogenesis; gastrulation; regulation of transcription from RNA polymerase II promoter | 22q11.21 |
| HIRIP3 | chromatin assembly or disassembly | 16p11.2 |
| HIST1H1A | nucleosome assembly; spermatogenesis | 6p21.3 |
| HIST1H1B | nucleosome assembly | 6p22.1 |
| HIST1H1C | nucleosome positioning; nucleosome assembly | 6p21.3 |
| HIST1H1D | nucleosome assembly; nucleosome positioning | 6p21.3 |
| HIST1H1E | nucleosome assembly; nucleosome positioning | 6p21.3 |
| HIST1H1PS1 | - | 6p22.1 |
| HIST1H1T | nucleosome assembly; multicellular organismal development; spermatogenesis; binding of sperm to zona pellucida; cell differentiation; sperm motility | 6p21.3 |
| HIST1H2AA | nucleosome assembly | 6p22.2 |
| HIST1H2AB | nucleosome assembly | 6p22.1 |
| HIST1H2AC | nucleosome assembly | 6p22.1 |
| HIST1H2AE | - | 6p22.1 |
| HIST1H2AH | nucleosome assembly | 6p21.33 |
| HIST1H2AI | - | 6p22.1 |
| HIST1H2AJ | - | 6p22.1 |
| HIST1H2AK | nucleosome assembly | 6p22.1 |
| HIST1H2AL | - | 6p22.1 |
| HIST1H2AM | - | 6p22.1 |
| HIST1H2APS1 | - | 6p22.2 |
| HIST1H2APS3 | - | 6p22.1 |
| HIST1H2APS4 | - | 6p21.3 |
| HIST1H2BA | mononuclear cell migration; cellular response to acid; positive regulation of binding; plasminogen activation; inflammatory response; nucleosome assembly | 6p22.2 |
| HIST1H2BB | nucleosome assembly | 6p21.3 |
| HIST1H2BC | defense response to bacterium; nucleosome assembly | 6p22.1 |
| HIST1H2BD | nucleosome assembly | 6p21.3 |
| HIST1H2BE | - | 6p22.1 |
| HIST1H2BF | - | 6p22.1 |
| HIST1H2BG | - | 6p21.3 |
| HIST1H2BH | nucleosome assembly | 6p21.3 |
| HIST1H2BI | - | 6p22.1 |
| HIST1H2BJ | nucleosome assembly; defense response to bacterium | 6p22.1 |
| HIST1H2BK | defense response to bacterium; nucleosome assembly | 6p21.33 |
| HIST1H2BL | nucleosome assembly | 6p22.1 |
| HIST1H2BM | nucleosome assembly | 6p22.1 |
| HIST1H2BN | nucleosome assembly | 6p22.1 |
| HIST1H2BO | nucleosome assembly | 6p22.1 |
| HIST1H2BPS1 | - | 6p22.2 |
| HIST1H2BPS2 | - | 6p22.1 |
| HIST1H2BPS3 | - | - |
| HIST1H3A | - | 6p22.1 |
| HIST1H3B | - | 6p22.1 |
| HIST1H3C | - | 6p22.1 |
| HIST1H3D | - | 6p22.1 |
| HIST1H3F | S phase; regulation of gene silencing; nucleosome assembly; blood coagulation | 6p22.2 |
| HIST1H3G | - | 6p22.1 |
| HIST1H3H | - | 6p22.1 |
| HIST1H3I | - | 6p22.1 |
| HIST1H4A | - | 6p22.1 |
| HIST1H4B | - | 6p22.1 |
| HIST1H4C | - | 6p22.1 |
| HIST1H4D | - | 6p22.1 |
| HIST1H4E | - | 6p22.1 |
| HIST1H4G | nucleosome assembly | 6p22.1 |
| HIST1H4H | - | 6p22.1 |
| HIST1H4I | - | 6p21.33 |
| HIST1H4J | - | 6p22.1 |
| HIST1H4K | - | 6p22.1 |
| HIST1H4L | - | 6p22.1 |
| HIST1H4PS1 | - | 6p22.1 |
| HIST2H2AA3 | - | 1q21.2 |
| HIST2H2AA4 | nucleosome assembly | 1q21.2 |
| HIST2H2AB | nucleosome assembly | 1q21 |
| HIST2H2AC | nucleosome assembly | 1q21.2 |
| HIST2H2BC | - | 1q21.2 |
| HIST2H2BD | nucleosome assembly | 1q21.2 |
| HIST2H2BE | defense response to bacterium; nucleosome assembly | 1q21.2 |
| HIST2H2BF | nucleosome assembly | 1q21.2 |
| HIST2H3D | negative regulation of transcription from RNA polymerase II promoter; nucleosome assembly; blood coagulation | 1q21.2 |
| HIST2H4B | nucleosome assembly; CenH3-containing nucleosome assembly at centromere; negative regulation of megakaryocyte differentiation; chromatin organization; phosphatidylinositol-mediated signaling; telomere maintenance | 1q21 |
| HIST3H2A | nucleosome assembly | 1q42.13 |
| HIST3H2BA | - | 1q42.13 |
| HIST3H2BB | nucleosome assembly | 1q42.13 |
| HIST3H3 | telomere maintenance; nucleosome assembly | 1q42 |
| HIST4H4 | - | 12p12.3 |
| HIVEP1 | negative regulation of transcription from RNA polymerase II promoter | 6p24-p22.3 |
| HIVEP2 | regulation of transcription, DNA-dependent | 6q23-q24 |
| HIVEP3 | positive regulation of transcription, DNA-dependent | 1p34 |
| HJURP | regulation of DNA binding; regulation of protein complex assembly; nucleosome assembly; cell cycle; chromosome segregation; centromeric core chromatin assembly; CenH3-containing nucleosome assembly at centromere | 2q37.1 |
| HK1 | carbohydrate metabolic process; glycolysis; hexose transport; glucose transport; small molecule metabolic process; transmembrane transport | 10q22 |
| HK2 | hexose transport; glucose transport; apoptotic mitochondrial changes; lactation; glycolysis; glucose metabolic process; carbohydrate metabolic process; small molecule metabolic process; regulation of glucose import; carbohydrate phosphorylation; transmembrane transport | 2p13 |
| HK2P1 | - | Xq21.1 |
| HK3 | glucose transport; small molecule metabolic process; carbohydrate metabolic process; glycolysis; transmembrane transport; hexose transport | 5q35.2 |
| HKDC1 | glycolysis; carbohydrate metabolic process | 10q22.1 |
| HKR1 | multicellular organismal development; regulation of transcription, DNA-dependent | 19q13.12 |
| HLA-A | antigen processing and presentation; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; immune response; viral reproduction; cytokine-mediated signaling pathway; antigen processing and presentation of exogenous peptide antigen via MHC class I; interspecies interaction between organisms; regulation of defense response to virus by virus; regulation of immune response; interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway | 6p21.3 |
| HLA-B | cytokine-mediated signaling pathway; immune response; regulation of dendritic cell differentiation; defense response; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; regulation of T cell anergy; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; regulation of immune response; interspecies interaction between organisms; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of interleukin-6 production; regulation of interleukin-12 production; antigen processing and presentation | 6p21.3 |
| HLA-C | antigen processing and presentation; antigen processing and presentation of peptide antigen via MHC class I; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; regulation of immune response; interspecies interaction between organisms; antigen processing and presentation of exogenous peptide antigen via MHC class I; cytokine-mediated signaling pathway; immune response; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent | 6p21.3 |
| HLA-DMA | positive regulation of T cell differentiation; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; protein complex assembly; protein transport; immunoglobulin mediated immune response; cytokine-mediated signaling pathway; antigen processing and presentation of exogenous peptide antigen via MHC class II; T cell costimulation; positive thymic T cell selection; positive regulation of immune response; T cell receptor signaling pathway; chaperone mediated protein folding requiring cofactor; interferon-gamma-mediated signaling pathway | 6p21.3 |
| HLA-DMB | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; immune response; cytokine-mediated signaling pathway; T cell costimulation; T cell receptor signaling pathway; interferon-gamma-mediated signaling pathway | 6p21.3 |
| HLA-DOA | cytokine-mediated signaling pathway; immune response; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; antigen processing and presentation of exogenous peptide antigen via MHC class II; T cell costimulation; regulation of T cell differentiation; T cell receptor signaling pathway; interferon-gamma-mediated signaling pathway | 6p21.3 |
| HLA-DOB | interferon-gamma-mediated signaling pathway; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; immune response; cytokine-mediated signaling pathway; T cell costimulation; T cell receptor signaling pathway | 6p21.3 |
| HLA-DPA1 | interferon-gamma-mediated signaling pathway; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; cellular response to interferon-gamma; T cell receptor signaling pathway; immune response; cytokine-mediated signaling pathway; T cell costimulation | 6p21.3 |
| HLA-DPA2 | - | 6p21.32 |
| HLA-DPB1 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; interferon-gamma-mediated signaling pathway; T cell receptor signaling pathway; T cell costimulation; cytokine-mediated signaling pathway; immune response | 6p21.3 |
| HLA-DPB2 | - | 6p21.3 |
| HLA-DQA2 | immune response; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; cytokine-mediated signaling pathway; T cell costimulation; T cell receptor signaling pathway; interferon-gamma-mediated signaling pathway | 6p21.3 |
| HLA-DQB1 | B cell affinity maturation; T cell receptor signaling pathway; interferon-gamma-mediated signaling pathway; cellular response to interferon-gamma; antigen processing and presentation of peptide antigen; positive regulation of alpha-beta T cell activation; T cell costimulation; antigen processing and presentation of exogenous peptide antigen via MHC class II; cytokine-mediated signaling pathway; immune response; positive regulation of T-helper 1 type immune response; positive regulation of antigen processing and presentation; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 6p21.3 |
| HLA-DQB2 | interferon-gamma-mediated signaling pathway; T cell receptor signaling pathway; T cell costimulation; immune response; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; cytokine-mediated signaling pathway | 6p21 |
| HLA-DQB3 | - | 6p21.3 |
| HLA-DRA | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; immune response; cytokine-mediated signaling pathway; T cell costimulation; T cell receptor signaling pathway; interferon-gamma-mediated signaling pathway | 6p21.3 |
| HLA-DRB1 | immune response; interferon-gamma-mediated signaling pathway; T cell receptor signaling pathway; T cell costimulation; cytokine-mediated signaling pathway; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 6p21.3 |
| HLA-DRB2 | - | 6p21.3 |
| HLA-DRB3 | signal transduction; regulation of interleukin-10 secretion; interferon-gamma-mediated signaling pathway; protein tetramerization; T cell receptor signaling pathway; regulation of interleukin-4 production; T cell costimulation; cytokine-mediated signaling pathway; immune response; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 6p21.3 |
| HLA-DRB4 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; immune response; signal transduction; cytokine-mediated signaling pathway; T cell costimulation; T cell receptor signaling pathway; interferon-gamma-mediated signaling pathway | 6p21.3 |
| HLA-DRB5 | cytokine-mediated signaling pathway; interferon-gamma-mediated signaling pathway; T cell receptor signaling pathway; T cell costimulation; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; immune response | 6p21.3 |
| HLA-DRB6 | - | 6p21.3 |
| HLA-E | regulation of immune response; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; antigen processing and presentation of exogenous peptide antigen via MHC class I; antigen processing and presentation; cytokine-mediated signaling pathway; immune response; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I | 6p21.3 |
| HLA-F | type I interferon-mediated signaling pathway; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; immune response; cytokine-mediated signaling pathway; antigen processing and presentation; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of immune response; interferon-gamma-mediated signaling pathway | 6p21.3 |
| HLA-F-AS1 | - | 6p22.1 |
| HLA-G | antigen processing and presentation; positive regulation of regulatory T cell differentiation; antigen processing and presentation of exogenous peptide antigen via MHC class I; negative regulation of T cell proliferation; positive regulation of interleukin-12 production; regulation of immune response; interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway; negative regulation of dendritic cell differentiation; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; cellular defense response; immune response; immune response-inhibiting cell surface receptor signaling pathway; positive regulation of T cell tolerance induction; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; antigen processing and presentation of peptide antigen via MHC class I; cytokine-mediated signaling pathway | 6p21.3 |
| HLA-H | immune response; antigen processing and presentation; antigen processing and presentation of peptide antigen via MHC class I | 6p21.3 |
| HLA-J | - | 6p21.31 |
| HLA-K | - | 6p21.3 |
| HLA-L | - | 6p21.3 |
| HLA-N | - | 6p21.3 |
| HLA-P | - | 6p21.2 |
| HLA-S | - | 6p21.3 |
| HLA-T | - | 6p21.3 |
| HLA-Z | - | 6p21.3 |
| HLCS | cell proliferation; protein biotinylation; histone modification; response to biotin; histone biotinylation | 21q22.13 |
| HLCS-IT1 | - | - |
| HLF | transcription from RNA polymerase II promoter; multicellular organismal development; rhythmic process | 17q22 |
| HLFP1 | - | - |
| HLTF | chromatin modification; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 3q25.1-q26.1 |
| HLX | skeletal muscle tissue development; embryonic digestive tract morphogenesis; enteric nervous system development; positive regulation of organ growth; negative regulation of T-helper 2 cell differentiation; cell differentiation; positive regulation of cell proliferation; positive regulation of T-helper 1 cell differentiation; multicellular organismal development; liver development | 1q41 |
| HM13 | membrane protein proteolysis | 20q11.21 |
| HMBOX1 | positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent | 8p21.1 |
| HMBS | response to drug; response to amino acid stimulus; small molecule metabolic process; astrocyte differentiation; response to methylmercury; cellular response to antibiotic; cellular response to arsenic-containing substance; cellular response to lead ion; cellular response to cytokine stimulus; cellular response to amine stimulus; cellular response to dexamethasone stimulus; response to hypoxia; response to estradiol stimulus; porphyrin-containing compound metabolic process; heme biosynthetic process; response to hormone stimulus; response to carbohydrate stimulus; response to zinc ion; response to organic cyclic compound; peptidyl-pyrromethane cofactor linkage; organ regeneration; response to nutrient levels; response to cobalt ion; response to vitamin | 11q23.3 |
| HMCES | - | 3q21.3 |
| HMCN1 | response to stimulus; visual perception | 1q25.3-q31.1 |
| HMCN2 | response to stimulus | 9q34.11 |
| HMG20A | chromatin modification; regulation of transcription, DNA-dependent; chromatin organization | 15q24 |
| HMG20B | chromatin modification; blood coagulation; chromatin organization; regulation of transcription, DNA-dependent; cell cycle | 19p13.3 |
| HMGA1 | initiation of viral infection; regulation of transcription, DNA-dependent; negative regulation of chromatin silencing; senescence-associated heterochromatin focus assembly; interspecies interaction between organisms; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; oncogene-induced senescence; positive regulation of cellular senescence; provirus integration; viral reproduction; response to virus; negative regulation of cell proliferation; protein complex assembly; nucleosome disassembly; base-excision repair; DNA unwinding involved in replication | 6p21 |
| HMGA1P3 | - | 12q24.11 |
| HMGA1P4 | - | - |
| HMGA1P6 | - | 13q12.12 |
| HMGA1P8 | - | 2p13.1 |
| HMGA2 | base-excision repair; male gonad development; spermatogenesis; multicellular organismal development; mitotic cell cycle G2/M transition DNA damage checkpoint; mitosis; cell cycle; regulation of transcription, DNA-dependent; chromatin organization; mesodermal-endodermal cell signaling; chondrocyte differentiation; epithelial to mesenchymal transition; negative regulation of transcription from RNA polymerase II promoter; positive regulation of apoptotic process; positive regulation of cell cycle arrest; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; mesodermal cell differentiation; negative regulation of astrocyte differentiation; mesenchymal cell differentiation; stem cell differentiation; cell division; regulation of growth hormone secretion; fat pad development; regulation of cell cycle process; oncogene-induced senescence; regulation of stem cell maintenance; positive regulation o | 12q15 |
| HMGB1 | DNA topological change; base-excision repair, DNA ligation; DNA fragmentation involved in apoptotic nuclear change; negative regulation of apoptotic cell clearance; response to glucocorticoid stimulus; DNA ligation involved in DNA repair; positive chemotaxis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of glycogen catabolic process; positive regulation of myeloid cell differentiation; innate immune response; positive regulation of DNA binding; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of apoptotic process; V(D)J recombination; neuron projection development; lung development; negative regulation of RNA polymerase II transcriptional preinitiation complex assembly; cellular component disassembly involved in apoptosis; apoptotic process; regulation of transcription from RNA polymerase II promoter; DNA recombination; positive regulation of catalytic activity; negative regulation of transcription from | 13q12 |
| HMGB1P1 | - | 20q13.32 |
| HMGB1P10 | - | 22q12.1 |
| HMGB1P11 | - | - |
| HMGB1P16 | - | Xp21.1 |
| HMGB1P18 | - | 1p31.1 |
| HMGB1P22 | - | 5q23.2 |
| HMGB1P23 | - | - |
| HMGB1P25 | - | 2p25.1 |
| HMGB1P27 | - | - |
| HMGB1P29 | - | - |
| HMGB1P3 | - | 2q35 |
| HMGB1P30 | - | - |
| HMGB1P31 | - | - |
| HMGB1P39 | - | - |
| HMGB1P4 | - | 2q32 |
| HMGB1P41 | - | - |
| HMGB1P9 | - | 2q35 |
| HMGB2 | V(D)J recombination; positive regulation of DNA binding; positive regulation of erythrocyte differentiation; positive regulation of megakaryocyte differentiation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; phosphatidylinositol-mediated signaling; positive chemotaxis; DNA ligation involved in DNA repair; cell chemotaxis; cellular response to lipopolysaccharide; response to steroid hormone stimulus; male gonad development; positive regulation of nuclease activity; positive regulation of endothelial cell proliferation; DNA topological change; base-excision repair, DNA ligation; DNA fragmentation involved in apoptotic nuclear change; chromatin organization; nucleosome assembly; regulation of transcription from RNA polymerase II promoter; apoptotic process; cellular component disassembly involved in apoptosis; spermatogenesis; spermatid nucleus differentiation | 4q31 |
| HMGB2P1 | - | 19p13.3 |
| HMGB3 | DNA recombination; multicellular organismal development | Xq28 |
| HMGB3P1 | - | 20q11.22 |
| HMGB3P11 | - | 2q12.1 |
| HMGB3P14 | - | - |
| HMGB3P16 | - | - |
| HMGB3P17 | - | - |
| HMGB3P2 | - | 20q11.23 |
| HMGB3P22 | - | 5q35.3 |
| HMGB3P24 | - | 9p13.2 |
| HMGB3P30 | - | Xq23 |
| HMGB3P31 | - | Xq26.3 |
| HMGB3P32 | - | - |
| HMGB3P4 | - | - |
| HMGB3P5 | - | 10q25.2 |
| HMGB3P6 | - | 1q23.3 |
| HMGB3P8 | - | 10q25.3 |
| HMGB3P9 | - | - |
| HMGB4 | - | 1p35.1 |
| HMGCL | response to fatty acid; ketone body biosynthetic process; cellular ketone body metabolic process; small molecule metabolic process; cellular lipid metabolic process; response to starvation; response to nutrient; mitochondrion organization; acyl-CoA metabolic process; leucine catabolic process; liver development; embryo development | 1p36.1-p35 |
| HMGCLL1 | - | 6p12.1 |
| HMGCR | coenzyme A metabolic process; small molecule metabolic process; cellular lipid metabolic process; gonad development; germ cell migration; isoprenoid biosynthetic process; cholesterol biosynthetic process | 5q13.3-q14 |
| HMGCS1 | cellular response to follicle-stimulating hormone stimulus; response to lipoprotein stimulus; response to tellurium ion; small molecule metabolic process; cellular lipid metabolic process; response to drug; response to gonadotropin stimulus; response to purine-containing compound; response to organic nitrogen; response to low light intensity stimulus; male gonad development; isoprenoid biosynthetic process; brain development; cholesterol biosynthetic process; lipid metabolic process; liver development; response to acid; response to vitamin E; cellular response to organic cyclic compound; cellular response to cholesterol | 5p14-p13 |
| HMGCS2 | cellular response to hormone stimulus; small molecule metabolic process; multicellular organismal response to stress; response to testosterone stimulus; response to glucagon stimulus; response to triglyceride; response to monosaccharide stimulus; response to prostaglandin F stimulus; response to drug; response to starvation; cellular lipid metabolic process; response to ethanol; cellular ketone body metabolic process; ketone body biosynthetic process; response to cAMP; response to growth hormone stimulus; adipose tissue development; response to linoleic acid; cellular response to lipopolysaccharide; cellular response to amino acid stimulus; cellular response to glucocorticoid stimulus; cellular response to fatty acid; cellular response to organic cyclic compound; kidney development; lung development; response to metal ion; cellular response to insulin stimulus; liver development; cholesterol biosynthetic process; brain development; midgut development; response to nutrient; isoprenoid biosynthetic process; res | 1p13-p12 |
| HMGN1 | positive regulation of transcription elongation, DNA-dependent | 21q22.2 |
| HMGN1P13 | - | - |
| HMGN1P2 | - | 21q22.11 |
| HMGN1P20 | - | - |
| HMGN1P21 | - | 11p15.4 |
| HMGN1P24 | - | - |
| HMGN1P26 | - | 15q22.2 |
| HMGN1P28 | - | - |
| HMGN1P30 | - | 18q21.31 |
| HMGN1P37 | - | Xq28 |
| HMGN1P38 | - | 15q26.1 |
| HMGN1P4 | - | 1q25.3 |
| HMGN1P6 | - | - |
| HMGN2 | regulation of transcription, DNA-dependent; chromatin organization | 1p36.1 |
| HMGN2P11 | - | 7q21.11 |
| HMGN2P13 | - | 3q25.2 |
| HMGN2P15 | - | 17q21.31 |
| HMGN2P16 | - | 9p22.3 |
| HMGN2P17 | - | 1p36.23 |
| HMGN2P18 | - | 1q22 |
| HMGN2P20 | - | 2p23.3 |
| HMGN2P21 | - | - |
| HMGN2P27 | - | - |
| HMGN2P30 | - | 7p14.1 |
| HMGN2P32 | - | - |
| HMGN2P4 | - | 5q13.3 |
| HMGN2P40 | - | - |
| HMGN2P41 | - | 16p11.1 |
| HMGN2P46 | - | 15q21.1 |
| HMGN2P5 | - | 15q13.1 |
| HMGN2P7 | - | 3p25.1 |
| HMGN2P8 | - | 10q23.1 |
| HMGN2P9 | - | 22q13.2 |
| HMGN3 | regulation of insulin secretion involved in cellular response to glucose stimulus; chromatin modification; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter | 6q14.1 |
| HMGN3-AS1 | - | 6q14.1 |
| HMGN4 | - | 6p21.3 |
| HMGN5 | positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; chromatin modification | Xq13.3 |
| HMGXB3 | phosphorylation | 5q32 |
| HMGXB4 | endosome to lysosome transport; negative regulation of Wnt receptor signaling pathway | 22q13.1 |
| HMHA1 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction | 19p13.3 |
| HMHB1 | - | 5q31.3 |
| HMMR | - | 5q33.2-qter |
| HMOX1 | cellular iron ion homeostasis; response to oxidative stress; heme oxidation; porphyrin-containing compound metabolic process; negative regulation of leukocyte migration; wound healing involved in inflammatory response; endothelial cell proliferation; angiogenesis; smooth muscle hyperplasia; negative regulation of mast cell degranulation; positive regulation of I-kappaB kinase/NF-kappaB cascade; response to hydrogen peroxide; heme catabolic process; response to nicotine; low-density lipoprotein particle clearance; erythrocyte homeostasis; negative regulation of mast cell cytokine production; cellular response to nutrient; anti-apoptosis; DNA damage response, signal transduction resulting in induction of apoptosis; cell death; regulation of blood pressure; excretion; small GTPase mediated signal transduction; intracellular protein kinase cascade; signal transduction; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of DNA binding; response to stimulus; regu | 22q13.1 |
| HMOX2 | porphyrin-containing compound metabolic process; response to hypoxia; heme oxidation; cellular iron ion homeostasis; response to oxidative stress; heme catabolic process; small molecule metabolic process; transmembrane transport | 16p13.3 |
| HMP19 | - | 5q35.2 |
| HMSD | - | 18q22.1 |
| HMX1 | multicellular organismal development; negative regulation of transcription, DNA-dependent | 4p16.1 |
| HMX2 | multicellular organismal development; nervous system development; brain development; positive regulation of cell proliferation; cell differentiation; inner ear morphogenesis | 10q26.13 |
| HMX3 | maternal process involved in female pregnancy; neuromuscular process controlling balance; inner ear morphogenesis; cell differentiation; embryo implantation; brain development; nervous system development | 10q26.13 |
| HN1 | - | 17q25.1 |
| HN1L | - | 16p13.3 |
| HNF1A | positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; glucose import; regulation of hormone secretion; paraxial mesoderm formation; reproductive structure development; regulation of insulin secretion; positive regulation of transcription initiation from RNA polymerase II promoter; SMAD protein signal transduction; regulation of transcription from RNA polymerase II promoter; chromatin remodeling; placenta development; liver development; blastocyst development; regulation of pronephros size; insulin secretion; bile acid biosynthetic process; heme biosynthetic process; response to oxidative stress; protein localization; cholesterol metabolic process; response to glucose stimulus; bile acid and bile salt transport; fatty acid transport; fatty acid biosynthetic process; regulation of Wnt receptor signaling pathway; embryonic limb morphogenesis; endocrine pancreas development; renal glucose abso | 12q24.2 |
| HNF1A-AS1 | - | 12q24.31 |
| HNF1B | hindbrain development; mesonephric duct formation; mesonephric duct development; regulation of branch elongation involved in ureteric bud branching; hepatoblast differentiation; ureteric bud elongation; epithelium development; positive regulation of transcription initiation from RNA polymerase II promoter; epithelial cell proliferation; genitalia development; pronephros development; branching morphogenesis of a tube; embryonic digestive tract morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of apoptotic process; pronephric nephron tubule development; endocrine pancreas development; insulin secretion; anterior/posterior pattern specification; response to glucose stimulus; endoderm development; inner cell mass cell differentiation; regulation of Wnt receptor signaling pathway; kidney development; negative regulation of transcription from RNA polymerase II promoter; regulation of pronephros size; regulati | 17q12 |
| HNF4A | establishment of tissue polarity; sex differentiation; phospholipid homeostasis; positive regulation of fatty acid biosynthetic process; positive regulation of transcription, DNA-dependent; negative regulation of mitotic cell cycle; positive regulation of transcription from RNA polymerase II promoter; negative regulation of peptidyl-tyrosine phosphorylation; regulation of insulin secretion; response to cAMP; lipid homeostasis; blood coagulation; SMAD protein signal transduction; regulation of growth hormone receptor signaling pathway; triglyceride homeostasis; positive regulation of cholesterol homeostasis; xenobiotic metabolic process; acyl-CoA metabolic process; ornithine metabolic process; regulation of transcription from RNA polymerase II promoter; cell-cell junction organization; negative regulation of cell proliferation; response to glucose stimulus; gene expression; regulation of gastrulation; regulation of lipid metabolic process; signal transduction involved in regulation of gene expression; cell dif | 20q13.12 |
| HNF4G | positive regulation of transcription, DNA-dependent; endocrine pancreas development; gene expression; regulation of transcription from RNA polymerase II promoter | 8q21.11 |
| HNMT | response to tumor cell; response to interleukin-1; response to glucocorticoid stimulus; response to cocaine; response to amine stimulus; respiratory gaseous exchange; brain development; hyperosmotic response; response to stress | 2q22.1 |
| HNRNPA0 | inflammatory response; 3'-UTR-mediated mRNA stabilization; response to lipopolysaccharide; nuclear mRNA splicing, via spliceosome; mRNA processing; gene expression; RNA splicing | 5q31 |
| HNRNPA1 | RNA export from nucleus; nuclear import; nuclear export; mRNA transport; interspecies interaction between organisms; gene expression; transport; RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome; alternative nuclear mRNA splicing, via spliceosome | 12q13.1 |
| HNRNPA1L2 | mRNA transport; RNA splicing; mRNA processing; transport | 13q14.3 |
| HNRNPA1P1 | - | 6p22.1 |
| HNRNPA1P10 | - | 19p13.2 |
| HNRNPA1P12 | - | 5q14.1 |
| HNRNPA1P13 | - | 5q31.1 |
| HNRNPA1P14 | - | - |
| HNRNPA1P15 | - | - |
| HNRNPA1P18 | - | - |
| HNRNPA1P2 | - | 6p21.32 |
| HNRNPA1P20 | - | 3q24 |
| HNRNPA1P21 | - | 3p22.2 |
| HNRNPA1P23 | - | 3q21.1 |
| HNRNPA1P24 | - | - |
| HNRNPA1P25 | - | Xq13.2 |
| HNRNPA1P27 | - | Xq22 |
| HNRNPA1P3 | - | 20q13.12 |
| HNRNPA1P32 | - | 10p11.23 |
| HNRNPA1P33 | - | 10q11.22 |
| HNRNPA1P34 | - | - |
| HNRNPA1P35 | - | 2q33.1 |
| HNRNPA1P37 | - | - |
| HNRNPA1P39 | - | 2q31.1 |
| HNRNPA1P4 | - | 8q21.13 |
| HNRNPA1P40 | - | 11q13.4 |
| HNRNPA1P41 | - | 9p24.1 |
| HNRNPA1P42 | - | 1q43 |
| HNRNPA1P45 | - | 15q14 |
| HNRNPA1P46 | - | - |
| HNRNPA1P48 | - | 16q12.1 |
| HNRNPA1P50 | - | 12q22 |
| HNRNPA1P51 | - | 2q33.3 |
| HNRNPA1P52 | - | 19q13.2 |
| HNRNPA1P53 | - | 11p15.4 |
| HNRNPA1P54 | - | - |
| HNRNPA1P55 | - | 4q13.3 |
| HNRNPA1P58 | - | 6p22.3 |
| HNRNPA1P60 | - | 11q23.1 |
| HNRNPA1P63 | - | 1p32.3 |
| HNRNPA1P64 | - | 1p31.1 |
| HNRNPA1P66 | - | 2p15 |
| HNRNPA1P70 | - | 12q15 |
| HNRNPA1P71 | - | - |
| HNRNPA1P74 | - | - |
| HNRNPA1P8 | - | 7q21.11 |
| HNRNPA2B1 | RNA transport; gene expression; RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome | 7p15 |
| HNRNPA3 | RNA splicing; nuclear mRNA splicing, via spliceosome; mRNA transport; gene expression | 2q31.2 |
| HNRNPA3P1 | - | 10q11.21 |
| HNRNPA3P13 | - | 4q21.22 |
| HNRNPA3P14 | - | 1p31.1 |
| HNRNPA3P3 | - | Xq27.1 |
| HNRNPA3P4 | - | 6p12.3 |
| HNRNPA3P5 | - | 13q21.32 |
| HNRNPA3P6 | - | 3p12.3 |
| HNRNPA3P7 | - | - |
| HNRNPA3P8 | - | 3p12.2 |
| HNRNPAB | epithelial to mesenchymal transition; positive regulation of transcription, DNA-dependent | 5q35.3 |
| HNRNPABP1 | - | 12p13.2 |
| HNRNPC | nuclear mRNA splicing, via spliceosome; gene expression; RNA splicing | 14q11.2 |
| HNRNPCL1 | - | 1p36.21 |
| HNRNPCP1 | - | 14q23.1 |
| HNRNPCP10 | - | Xq27.3 |
| HNRNPCP2 | - | - |
| HNRNPCP3 | - | 15q25.1 |
| HNRNPCP4 | - | - |
| HNRNPCP6 | - | - |
| HNRNPCP7 | - | 7q11.21 |
| HNRNPCP8 | - | 11q14.2 |
| HNRNPD | nuclear mRNA splicing, via spliceosome; mRNA stabilization; positive regulation of transcription, DNA-dependent; mRNA metabolic process; RNA metabolic process; gene expression; RNA splicing; RNA catabolic process; RNA processing; regulation of transcription, DNA-dependent | 4q21 |
| HNRNPDL | - | 4q21.22 |
| HNRNPDLP2 | - | 2q24.1 |
| HNRNPDP1 | - | Xq11.1 |
| HNRNPF | nuclear mRNA splicing, via spliceosome; RNA processing; RNA splicing; regulation of RNA splicing; gene expression | 10q11.21 |
| HNRNPFP1 | - | 1p34.2 |
| HNRNPH1 | gene expression; RNA processing; RNA splicing; regulation of RNA splicing; nuclear mRNA splicing, via spliceosome | 5q35.3 |
| HNRNPH1P1 | - | 6q25.3 |
| HNRNPH1P2 | - | Xq27.3 |
| HNRNPH1P3 | - | 5q11.2 |
| HNRNPH3 | RNA splicing; RNA processing; nuclear mRNA splicing, via spliceosome | 10q22 |
| HNRNPK | nuclear mRNA splicing, via spliceosome; RNA processing; signal transduction; RNA splicing; gene expression; regulation of low-density lipoprotein particle clearance; interspecies interaction between organisms; positive regulation of low-density lipoprotein particle receptor biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter; positive regulation of receptor-mediated endocytosis | 9q21.32-q21.33 |
| HNRNPKP1 | - | 5q23.2 |
| HNRNPKP2 | - | 2q22.1 |
| HNRNPKP3 | - | 11p12 |
| HNRNPKP4 | - | 3q11.2 |
| HNRNPL | nuclear mRNA splicing, via spliceosome; RNA processing; RNA splicing; gene expression | 19q13.2 |
| HNRNPLL | - | 2p22.1 |
| HNRNPLP1 | - | 6p24.3 |
| HNRNPLP2 | - | 15q14 |
| HNRNPM | gene expression; RNA splicing; alternative nuclear mRNA splicing, via spliceosome; nuclear mRNA splicing, via spliceosome | 19p13.2 |
| HNRNPR | mRNA processing; RNA splicing; gene expression; nuclear mRNA splicing, via spliceosome | 1p36.12 |
| HNRNPRP1 | - | 10p12.31 |
| HNRNPU | gene expression; CRD-mediated mRNA stabilization; RNA splicing; RNA processing; nuclear mRNA splicing, via spliceosome | 1q44 |
| HNRNPU-AS1 | - | 1q44 |
| HNRNPUL1 | gene expression; response to virus; RNA splicing; nuclear mRNA splicing, via spliceosome; RNA processing; regulation of transcription, DNA-dependent | 19q13.2 |
| HNRNPUL2 | - | 11q12.3 |
| HNRNPUP1 | - | 14q21.2 |
| HOGA1 | glyoxylate catabolic process | 10q24.2 |
| HOMER1 | activation of phospholipase C activity by G-protein coupled glutamate receptor signaling pathway; synaptic transmission; positive regulation of signal transduction; response to calcium ion; regulation of store-operated calcium entry; regulation of cation channel activity | 5q14.2 |
| HOMER2 | G-protein coupled glutamate receptor signaling pathway | 15q24.3 |
| HOMER3 | protein targeting; G-protein coupled glutamate receptor signaling pathway | 19p13.11 |
| HOMEZ | - | 14q11.2 |
| HOOK1 | spermatid development; cell differentiation; protein transport; microtubule cytoskeleton organization; endosome organization; lysosome organization; multicellular organismal development; spermatogenesis; endosome to lysosome transport; early endosome to late endosome transport | 1p32.1 |
| HOOK2 | early endosome to late endosome transport; endocytosis; protein transport; endosome to lysosome transport; lysosome organization; endosome organization; microtubule cytoskeleton organization | 19p13.2 |
| HOOK3 | Golgi localization; endosome to lysosome transport; protein transport; interkinetic nuclear migration; protein localization to centrosome; cytoplasmic microtubule organization; negative regulation of neurogenesis; endosome organization; lysosome organization; early endosome to late endosome transport; microtubule anchoring at centrosome; microtubule anchoring | 8p11.21 |
| HOPX | negative regulation of cell differentiation; multicellular organismal development; trophectodermal cell differentiation | 4q12 |
| HORMAD1 | meiotic recombination checkpoint; spermatogenesis; regulation of homologous chromosome segregation; cell differentiation; meiotic DNA double-strand break formation; oogenesis; meiotic sister chromatid cohesion; blastocyst development; synaptonemal complex assembly; meiosis | 1q21.3 |
| HORMAD2 | meiosis | 22q12.2 |
| HOTAIR | - | 12q13.13 |
| HOTAIRM1 | - | 7p15.2 |
| HOTTIP | - | 7p15.2 |
| HOXA-AS2 | - | 7p15.2 |
| HOXA-AS3 | - | 7p15.2 |
| HOXA1 | hindbrain development; sensory perception of sound; central nervous system neuron differentiation; facial nucleus development; facial nerve structural organization; abducens nerve formation; rhombomere 5 development; rhombomere 4 development; rhombomere 3 development; anterior/posterior pattern specification; anatomical structure morphogenesis; motor axon guidance; optokinetic behavior; outer ear morphogenesis; positive regulation of transcription from RNA polymerase II promoter; embryonic neurocranium morphogenesis; inner ear development; artery morphogenesis; regulation of behavior; cognition; neuromuscular process; artery development; semicircular canal formation; cochlea development; cochlea morphogenesis; nervous system development; multicellular organismal development | 7p15.3 |
| HOXA10 | skeletal system development; multicellular organismal development; spermatogenesis; anterior/posterior pattern specification; proximal/distal pattern formation; embryonic limb morphogenesis | 7p15.2 |
| HOXA11 | embryonic limb morphogenesis; positive regulation of chondrocyte differentiation; embryonic digit morphogenesis; positive regulation of transcription, DNA-dependent; developmental growth; cartilage development involved in endochondral bone morphogenesis; positive regulation of cell development; proximal/distal pattern formation; dorsal/ventral pattern formation; anterior/posterior pattern specification; anatomical structure morphogenesis; mesodermal cell fate specification; multicellular organismal development; organ induction; branching involved in ureteric bud morphogenesis; metanephros development; skeletal system development | 7p15.2 |
| HOXA11-AS | - | 7p15.2 |
| HOXA13 | branching involved in prostate gland morphogenesis; vasculogenesis; endothelial cell fate specification; artery morphogenesis; inner ear development; embryonic hindgut morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of mitosis; positive regulation of apoptotic process; embryonic forelimb morphogenesis; male genitalia development; regulation of BMP signaling pathway; organ morphogenesis; multicellular organismal development; ventricular septum development; tissue homeostasis; endothelial cell morphogenesis; skeletal system development | 7p15.2 |
| HOXA2 | negative regulation of neuron differentiation; cell fate determination; negative regulation of transcription from RNA polymerase II promoter; embryonic skeletal system morphogenesis; embryonic viscerocranium morphogenesis; positive regulation of transcription from RNA polymerase II promoter; middle ear morphogenesis; brain segmentation; rhombomere 3 morphogenesis; rhombomere 2 development; dorsal/ventral pattern formation; anterior/posterior pattern specification; motor axon guidance; segment specification; osteoblast development | 7p15.2 |
| HOXA3 | thyroid gland development; parathyroid gland development; cartilage development; embryonic skeletal system morphogenesis; organ formation; thymus development; specification of organ position; anterior/posterior pattern specification; positive regulation of cell proliferation; multicellular organismal development; blood vessel remodeling; angiogenesis; glossopharyngeal nerve morphogenesis | 7p15.2 |
| HOXA4 | multicellular organismal development; anatomical structure morphogenesis | 7p15.2 |
| HOXA5 | mammary gland alveolus development; lung alveolus development; embryonic skeletal system morphogenesis; bronchiole development; epithelial tube branching involved in lung morphogenesis; lung goblet cell differentiation; lung-associated mesenchyme development; trachea cartilage morphogenesis; intestinal epithelial cell maturation; mesenchymal-epithelial cell signaling; mammary gland epithelial cell differentiation; cell-cell signaling involved in mammary gland development; anterior/posterior pattern specification; negative regulation of erythrocyte differentiation; morphogenesis of an epithelium; respiratory system process; pattern specification process; positive regulation of receptor biosynthetic process; cell migration; negative regulation of angiogenesis; thyroid gland development; regulation of mammary gland epithelial cell proliferation; multicellular organism growth; positive regulation of apoptotic process; positive regulation of myeloid cell differentiation; positive regulation of transcription from R | 7p15.2 |
| HOXA6 | multicellular organismal development; anterior/posterior pattern specification; embryonic skeletal system morphogenesis | 7p15.2 |
| HOXA7 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; angiogenesis; negative regulation of cell-matrix adhesion; negative regulation of leukocyte migration; multicellular organismal development; negative regulation of keratinocyte differentiation; negative regulation of monocyte differentiation; negative regulation of transcription, DNA-dependent; embryonic skeletal system morphogenesis; stem cell differentiation; anterior/posterior pattern specification | 7p15.2 |
| HOXA9 | mammary gland development; definitive hemopoiesis; embryonic skeletal system development; embryonic forelimb morphogenesis; proximal/distal pattern formation; anterior/posterior pattern specification; multicellular organismal development | 7p15.2 |
| HOXB-AS1 | - | - |
| HOXB-AS3 | - | 17q21.32 |
| HOXB-AS4 | - | - |
| HOXB1 | multicellular organismal development; embryonic skeletal system morphogenesis; anatomical structure formation involved in morphogenesis; positive regulation of transcription from RNA polymerase II promoter; facial nucleus development; facial nerve structural organization; rhombomere 5 development; rhombomere 4 development; anterior/posterior pattern specification; pattern specification process; regulation of transcription, DNA-dependent | 17q21.3 |
| HOXB13 | morphogenesis of an epithelium; epithelial cell maturation involved in prostate gland development; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis; regulation of growth; response to testosterone stimulus; response to wounding; epidermis development; multicellular organismal development; angiogenesis | 17q21.2 |
| HOXB2 | anterior/posterior pattern specification; neural nucleus development; embryonic skeletal system morphogenesis; facial nerve structural organization; rhombomere 4 development; dorsal/ventral pattern formation; blood circulation; multicellular organismal development; morphogenesis of an epithelial sheet; rhombomere 3 development | 17q21.32 |
| HOXB3 | definitive hemopoiesis; cartilage development; embryonic skeletal system morphogenesis; thyroid gland development; glossopharyngeal nerve morphogenesis; anterior/posterior pattern specification; multicellular organismal development; angiogenesis | 17q21.3 |
| HOXB4 | negative regulation of transcription from RNA polymerase II promoter; morphogenesis of an epithelial sheet; regulation of transcription, DNA-dependent; multicellular organismal development; cell proliferation; anterior/posterior pattern specification; somatic stem cell division; spleen development; bone marrow development; embryonic skeletal system morphogenesis; definitive hemopoiesis | 17q21.32 |
| HOXB5 | endothelial cell differentiation; multicellular organismal development; anatomical structure morphogenesis; anterior/posterior pattern specification; embryonic skeletal system morphogenesis | 17q21.3 |
| HOXB6 | regulation of transcription, DNA-dependent; multicellular organismal development; anterior/posterior axis specification, embryo; anterior/posterior pattern specification; erythrocyte homeostasis; embryonic skeletal system morphogenesis | 17q21.3 |
| HOXB7 | myeloid cell differentiation; positive regulation of branching involved in ureteric bud morphogenesis; embryonic skeletal system morphogenesis; anterior/posterior pattern specification; multicellular organismal development; regulation of transcription, DNA-dependent | 17q21.3 |
| HOXB8 | regulation of transcription, DNA-dependent; multicellular organismal development; grooming behavior; adult locomotory behavior; anterior/posterior pattern specification; sensory perception of pain; dorsal spinal cord development; embryonic skeletal system morphogenesis | 17q21.3 |
| HOXB9 | mammary gland development; cell chemotaxis; canonical Wnt receptor signaling pathway; embryonic skeletal system development; positive regulation of transcription from RNA polymerase II promoter; anterior/posterior pattern specification; multicellular organismal development; regulation of transcription, DNA-dependent | 17q21.3 |
| HOXC-AS2 | - | - |
| HOXC-AS3 | - | - |
| HOXC10 | anterior/posterior pattern specification; neuromuscular process; embryonic limb morphogenesis; spinal cord motor neuron cell fate specification; proximal/distal pattern formation; positive regulation of cell proliferation; multicellular organismal development; skeletal system development | 12q13.3 |
| HOXC11 | endoderm development; multicellular organismal development | 12q13.3 |
| HOXC12 | multicellular organismal development | 12q13.13 |
| HOXC13 | tongue morphogenesis; anterior/posterior pattern specification; anatomical structure morphogenesis; multicellular organismal development; regulation of transcription, DNA-dependent; hair follicle development | 12q13.3 |
| HOXC13-AS | - | - |
| HOXC4 | regulation of transcription, DNA-dependent; multicellular organismal development; anterior/posterior pattern specification; embryonic organ morphogenesis; cartilage development | 12q13.3 |
| HOXC5 | multicellular organismal development; anterior/posterior pattern specification; embryonic skeletal system development; regulation of transcription from RNA polymerase II promoter | 12q13.3 |
| HOXC6 | regulation of transcription from RNA polymerase II promoter; embryonic skeletal system development; anterior/posterior pattern specification; multicellular organismal development | 12q13.3 |
| HOXC8 | skeletal system morphogenesis; neuron differentiation; anterior/posterior pattern specification; multicellular organismal development; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 12q13.3 |
| HOXC9 | multicellular organismal development | 12q13.3 |
| HOXD-AS2 | - | 2q31.1 |
| HOXD1 | embryonic skeletal system development; multicellular organismal development | 2q31.1 |
| HOXD10 | forelimb morphogenesis; skeletal system development; multicellular organismal development; skeletal muscle tissue development; adult locomotory behavior; anterior/posterior pattern specification; proximal/distal pattern formation; spinal cord motor neuron cell fate specification; embryonic limb morphogenesis; hindlimb morphogenesis; positive regulation of transcription from RNA polymerase II promoter; embryonic skeletal system morphogenesis; peripheral nervous system neuron development; neuromuscular process | 2q31.1 |
| HOXD11 | regulation of transcription, DNA-dependent; cartilage development involved in endochondral bone morphogenesis; developmental growth; embryonic digit morphogenesis; positive regulation of chondrocyte differentiation; positive regulation of cell development; proximal/distal pattern formation; dorsal/ventral pattern formation; anterior/posterior pattern specification; pattern specification process; organ induction; branching involved in ureteric bud morphogenesis; metanephros development; skeletal system development | 2q31.1 |
| HOXD12 | multicellular organismal development; regulation of transcription, DNA-dependent; pattern specification process; embryonic digit morphogenesis; skeletal system development | 2q31.1 |
| HOXD13 | embryonic hindgut morphogenesis; gland morphogenesis; anterior/posterior pattern specification; pattern specification process; multicellular organismal development; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; skeletal system development; regulation of branching involved in prostate gland morphogenesis; branch elongation of an epithelium; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis; morphogenesis of an epithelial fold; positive regulation of transcription from RNA polymerase II promoter; embryonic digit morphogenesis; regulation of cell proliferation; male genitalia development | 2q31.1 |
| HOXD3 | embryonic skeletal system morphogenesis; cartilage development; positive regulation of gene expression; positive regulation of neuron differentiation; thyroid gland development; transcription, DNA-dependent; cell-matrix adhesion; Notch signaling pathway; multicellular organismal development; anterior/posterior pattern specification | 2q31.1 |
| HOXD4 | stem cell differentiation; multicellular organismal development; anterior/posterior pattern specification; embryonic skeletal system morphogenesis; regulation of transcription, DNA-dependent | 2q31.1 |
| HOXD8 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; anterior/posterior axis specification, embryo; anterior/posterior pattern specification; skeletal system morphogenesis | 2q31.1 |
| HOXD9 | skeletal muscle tissue development; peripheral nervous system neuron development; embryonic skeletal system morphogenesis; positive regulation of transcription from RNA polymerase II promoter; hindlimb morphogenesis; embryonic forelimb morphogenesis; mammary gland development; proximal/distal pattern formation; anterior/posterior pattern specification; adult locomotory behavior; multicellular organismal development | 2q31.1 |
| HP | defense response; cellular iron ion homeostasis; positive regulation of cell death; response to hydrogen peroxide; negative regulation of oxidoreductase activity; negative regulation of hydrogen peroxide catabolic process | 16q22.2 |
| HP09025 | - | 17q25.3 |
| HP1BP3 | nucleosome assembly | 1p36.12 |
| HPCAL1 | - | 2p25.1 |
| HPCAL4 | central nervous system development | 1p34.2 |
| HPD | L-phenylalanine catabolic process; tyrosine catabolic process; aromatic amino acid family metabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 12q24-qter |
| HPDL | aromatic amino acid family metabolic process | 1p34.1 |
| HPGD | lipoxygenase pathway; ovulation; negative regulation of cell cycle; thrombin receptor signaling pathway; ductus arteriosus closure; parturition; female pregnancy; transforming growth factor beta receptor signaling pathway; prostaglandin metabolic process; fatty acid metabolic process; lipid metabolic process | 4q34-q35 |
| HPGDS | locomotory behavior; signal transduction; fatty acid biosynthetic process; prostaglandin biosynthetic process; prostaglandin metabolic process | 4q22.3 |
| HPN | positive regulation of hepatocyte proliferation; regulation of cell shape; positive regulation of thyroid hormone generation; pilomotor reflex; response to thyroid hormone stimulus; cochlea morphogenesis; potassium ion transmembrane transport; detection of mechanical stimulus involved in sensory perception of sound; negative regulation of epithelial cell proliferation; positive regulation by host of viral transcription; negative regulation of apoptotic process; basement membrane disassembly; positive regulation of cell growth; positive regulation of plasminogen activation; negative regulation of epithelial to mesenchymal transition; positive regulation of gene expression; proteolysis | 19q13.12 |
| HPN-AS1 | - | 19q13.12 |
| HPR | - | 16q22.1 |
| HPRT1 | hypoxanthine metabolic process; purine base metabolic process; central nervous system neuron development; cerebral cortex neuron differentiation; striatum development; cytolysis; glucose 1-phosphate metabolic process; nucleoside metabolic process; grooming behavior; behavior; spermatogenesis; guanine salvage; adenine salvage; purine ribonucleoside salvage; purine nucleotide biosynthetic process; GMP salvage; IMP salvage; purine-containing compound salvage; hypoxanthine salvage; small molecule metabolic process; positive regulation of dopamine metabolic process; GMP catabolic process; IMP metabolic process; adenine metabolic process; response to amphetamine; lymphocyte proliferation; dendrite morphogenesis; protein homotetramerization; nucleobase-containing small molecule metabolic process | Xq26.1 |
| HPS1 | secretion of lysosomal enzymes; organelle organization; lysosome organization; blood coagulation; visual perception; melanocyte differentiation; positive regulation of natural killer cell activation; pigmentation; eye pigmentation; response to stimulus; retina development in camera-type eye | 10q23.1-q23.3 |
| HPS3 | pigmentation; organelle organization | 3q24 |
| HPS4 | protein stabilization; positive regulation of eye pigmentation; melanocyte differentiation; hemostasis; blood coagulation; lysosome organization; organelle organization; protein targeting | 22cen-q12.3 |
| HPS5 | organelle organization; blood coagulation; pigmentation | 11p14 |
| HPS6 | blood coagulation; melanocyte differentiation; pigmentation; organelle organization | 10q24.32 |
| HPSE | vascular wound healing; positive regulation of protein kinase B signaling cascade; cell-matrix adhesion; positive regulation of hair follicle development; regulation of hair follicle development; positive regulation of osteoblast proliferation; positive regulation of blood coagulation; positive regulation vascular endothelial growth factor production; carbohydrate metabolic process; cell adhesion; proteoglycan metabolic process | 4q21.3 |
| HPSE2 | carbohydrate metabolic process | 10q23-q24 |
| HPX | heme metabolic process; positive regulation of immunoglobulin production; positive regulation of humoral immune response mediated by circulating immunoglobulin; transport; cellular iron ion homeostasis; heme transport; hemoglobin metabolic process; positive regulation of tyrosine phosphorylation of Stat1 protein; interspecies interaction between organisms; regulation of protein metabolic process; positive regulation of interferon-gamma-mediated signaling pathway | 11p15.5-p15.4 |
| HR | protein heterooligomerization; regulation of transcription, DNA-dependent; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of transcription, DNA-dependent | 8p21.2 |
| HRAS | cellular senescence; positive regulation of DNA replication; MAPK cascade; activation of MAPKK activity; positive regulation of protein phosphorylation; endocytosis; apoptotic process; chemotaxis; cell cycle arrest; visual learning; positive regulation of JNK cascade; signal transduction; cell surface receptor signaling pathway; epidermal growth factor receptor signaling pathway; small GTPase mediated signal transduction; Ras protein signal transduction; synaptic transmission; axon guidance; blood coagulation; positive regulation of cell proliferation; negative regulation of cell proliferation; insulin receptor signaling pathway; nerve growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; induction of apoptosis by intracellular signals; organ morphogenesis; actin cytoskeleton organization; mitotic cell cycle G1/S transition checkpoint; regulation of synaptic transmission, GABAergic; positive regulation of Rac protein signal transduction; social behavior; positive regul | 11p15.5 |
| HRASLS | - | 3q29 |
| HRASLS2 | lipid catabolic process | 11q12.3 |
| HRASLS5 | - | 11q13.2 |
| HRAT92 | - | 7p22.3 |
| HRC | muscle contraction | 19q13.3 |
| HRCT1 | - | 9p13.3 |
| HRG | regulation of platelet activation; platelet degranulation; blood coagulation; negative regulation of angiogenesis; platelet activation; regulation of blood coagulation; fibrinolysis; defense response to fungus; negative regulation of fibrinolysis | 3q27 |
| HRH1 | positive regulation of vasoconstriction; positive regulation of nitric oxide biosynthetic process; negative regulation of steroid biosynthetic process; response to gravity; synaptic transmission; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; G-protein coupled receptor signaling pathway; inflammatory response | 3p25 |
| HRH2 | immune response; G-protein signaling, coupled to cyclic nucleotide second messenger | 5q35.2 |
| HRH3 | G-protein signaling, coupled to cyclic nucleotide second messenger; neurotransmitter secretion | 20q13.33 |
| HRH4 | inflammatory response | 18q11.2 |
| HRK | positive regulation of protein homooligomerization; positive regulation of release of cytochrome c from mitochondria; positive regulation of apoptotic process; positive regulation of neuron apoptosis; cellular response to potassium ion starvation; negative regulation of survival gene product expression; induction of apoptosis | 12q24.22 |
| HRNR | keratinization; multicellular organismal development; tryptophan metabolic process | 1q21.3 |
| HRSP12 | regulation of translational termination | 8q22 |
| HS1BP3 | cell communication | 2p24.1 |
| HS1BP3-IT1 | - | - |
| HS2ST1 | ureteric bud formation; heparin metabolic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | 1p22.3 |
| HS3ST1 | - | 4p16 |
| HS3ST2 | circadian rhythm | 16p12 |
| HS3ST3A1 | - | 17p12 |
| HS3ST3B1 | heparan sulfate proteoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process, enzymatic modification | 17p12 |
| HS3ST4 | heparan sulfate proteoglycan metabolic process | 16p11.2 |
| HS3ST5 | negative regulation of coagulation; regulation of virion penetration into host cell; heparan sulfate proteoglycan biosynthetic process, enzymatic modification; protein sulfation | 6q21 |
| HS6ST1 | angiogenesis; heparan sulfate proteoglycan biosynthetic process, enzymatic modification; lung alveolus development; labyrinthine layer blood vessel development | 2q21 |
| HS6ST1P1 | - | 1p36.12 |
| HS6ST2 | - | Xq26.2 |
| HS6ST2-AS1 | - | - |
| HS6ST3 | - | 13q32.1 |
| HSBP1 | negative regulation of transcription from RNA polymerase II promoter; muscle contraction | 16q23.3 |
| HSBP1L1 | viral envelope fusion with host membrane | 18q23 |
| HSBP1P1 | - | 14q23.1 |
| HSCB | protein folding; iron-sulfur cluster assembly | 22q12.1 |
| HSD11B1 | glucocorticoid biosynthetic process; steroid metabolic process; lung development; small molecule metabolic process | 1q32-q41 |
| HSD11B1L | - | 19p13.3 |
| HSD11B2 | regulation of blood volume by renal aldosterone; response to glucocorticoid stimulus; response to steroid hormone stimulus; response to drug; response to insulin stimulus; response to food; female pregnancy; glucocorticoid biosynthetic process; response to hypoxia | 16q22 |
| HSD17B1 | estrogen biosynthetic process; steroid biosynthetic process; steroid metabolic process; estrogen metabolic process; small molecule metabolic process | 17q11-q21 |
| HSD17B10 | lipid metabolic process; cell aging; tRNA processing; branched chain family amino acid catabolic process; Leydig cell differentiation; cellular nitrogen compound metabolic process; small molecule metabolic process; protein homotetramerization | Xp11.2 |
| HSD17B11 | androgen catabolic process; steroid biosynthetic process | 4q22.1 |
| HSD17B12 | extracellular matrix organization; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process; positive regulation of cell-substrate adhesion; steroid biosynthetic process | 11p11.2 |
| HSD17B13 | - | 4q22.1 |
| HSD17B14 | steroid catabolic process | 19q13.33 |
| HSD17B2 | androgen biosynthetic process; estrogen biosynthetic process; response to retinoic acid; cellular response to metal ion; bone development | 16q24.1-q24.2 |
| HSD17B3 | cellular response to antibiotic; response to estrogen stimulus; response to L-ascorbic acid; biphenyl metabolic process; Leydig cell differentiation; response to vitamin E; response to nutrient levels; male genitalia development; hippocampus development; phenol-containing compound metabolic process; response to fatty acid; organic acid metabolic process; androgen biosynthetic process; steroid metabolic process; response to herbicide; response to lead ion; response to organic cyclic compound; response to activity; insecticide metabolic process; response to ethanol; response to arsenic-containing substance; response to cadmium ion; response to corticosterone stimulus; response to fungicide; cellular response to gonadotropin stimulus; small molecule metabolic process | 9q22 |
| HSD17B4 | sterol transport; small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; bile acid metabolic process; bile acid biosynthetic process; fatty acid metabolic process | 5q21 |
| HSD17B6 | oxidation-reduction process; steroid metabolic process; androgen catabolic process; androgen biosynthetic process | 12q13 |
| HSD17B7 | small molecule metabolic process; cholesterol biosynthetic process; steroid biosynthetic process | 1q23 |
| HSD17B7P2 | - | 10p11.1 |
| HSD17B8 | fatty acid biosynthetic process; estrogen biosynthetic process; androgen metabolic process | 6p21.3 |
| HSD3B1 | estrogen biosynthetic process; androgen biosynthetic process; steroid biosynthetic process; glucocorticoid biosynthetic process; mineralocorticoid biosynthetic process; steroid metabolic process; small molecule metabolic process | 1p13.1 |
| HSD3B2 | oxidation-reduction process; small molecule metabolic process; steroid metabolic process; mineralocorticoid biosynthetic process; glucocorticoid biosynthetic process; androgen biosynthetic process; steroid biosynthetic process | 1p13.1 |
| HSD3B7 | regulation of cell growth; oxidation-reduction process; bile acid metabolic process; small molecule metabolic process; bile acid biosynthetic process; steroid biosynthetic process | 16p11.2 |
| HSD3BP4 | - | 1p13.1 |
| HSD3BP5 | - | 1p13.1 |
| HSDL1 | - | 16q23.3 |
| HSDL2 | - | 9q32 |
| HSF1 | embryonic process involved in female pregnancy; positive regulation of multicellular organism growth; negative regulation of tumor necrosis factor production; response to lipopolysaccharide; response to heat; negative regulation of cell proliferation; spermatogenesis; protein phosphorylation; regulation of transcription, DNA-dependent; embryonic placenta development | 8q24.3 |
| HSF2 | regulation of transcription, DNA-dependent; spermatogenesis; response to stress; transcription from RNA polymerase II promoter | 6q22.31 |
| HSF2BP | transcription from RNA polymerase II promoter; spermatogenesis | 21q22.3 |
| HSF4 | positive regulation of cell proliferation; response to stress; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; histone H3-K9 demethylation; camera-type eye development; protein homotrimerization; cell development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell differentiation | 16q21 |
| HSF5 | - | 17q22 |
| HSFX1 | - | Xq28 |
| HSFX2 | - | Xq28 |
| HSFY1P1 | - | - |
| HSFY3P | - | Yp11.31 |
| HSH2D | T cell activation | 19p13.12 |
| HSP90AA1 | chaperone-mediated protein complex assembly; regulation of nitric-oxide synthase activity; G2/M transition of mitotic cell cycle; mitotic cell cycle; ATP catabolic process; protein folding; mitochondrial transport; response to stress; response to unfolded protein; signal transduction; axon guidance; protein refolding; small molecule metabolic process; protein import into mitochondrial outer membrane; positive regulation of nitric oxide biosynthetic process; nitric oxide metabolic process | 14q32.33 |
| HSP90AA2 | protein folding; response to stress; positive regulation of nitric oxide biosynthetic process | 11p14.1 |
| HSP90AA4P | protein folding; response to stress | 4q35.2 |
| HSP90AA5P | response to stress; protein folding | 3q27.1 |
| HSP90AA6P | - | 4q33 |
| HSP90AB1 | response to stress; regulation of type I interferon-mediated signaling pathway; placenta development; protein folding; response to unfolded protein; axon guidance; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response; positive regulation of nitric oxide biosynthetic process; regulation of interferon-gamma-mediated signaling pathway | 6p12 |
| HSP90AB2P | response to stress; protein folding | 4p15.33 |
| HSP90AB3P | response to stress; protein folding | 4q22.1 |
| HSP90AB4P | response to stress; protein folding | 15q22.1 |
| HSP90AB5P | - | 3p13 |
| HSP90AB6P | - | 13q32.1 |
| HSP90AB7P | - | 10p14 |
| HSP90B1 | anti-apoptosis; response to stress; activation of signaling protein activity involved in unfolded protein response; protein transport; ER-associated protein catabolic process; endoplasmic reticulum unfolded protein response; actin rod assembly; regulation of phosphoprotein phosphatase activity; sequestering of calcium ion; cellular response to ATP; protein folding; response to hypoxia | 12q24.2-q24.3 |
| HSP90B2P | protein folding; response to stress | 15q26.3 |
| HSP90B3P | - | 1p22.1 |
| HSPA12A | - | 10q26.12 |
| HSPA12B | response to stress | 20p13 |
| HSPA13 | - | 21q11 |
| HSPA14 | 'de novo' cotranslational protein folding | 10p13 |
| HSPA1A | - | 6p21.3 |
| HSPA1B | mRNA catabolic process; anti-apoptosis; response to stress; response to unfolded protein; negative regulation of cell proliferation; gene expression; RNA metabolic process; mRNA metabolic process; negative regulation of cell growth; protein refolding; negative regulation of inclusion body assembly | 6p21.3 |
| HSPA1L | response to stress; response to unfolded protein | 6p21.3 |
| HSPA2 | synaptonemal complex disassembly; positive regulation of protein phosphorylation; response to stress; response to unfolded protein; male meiosis; male meiosis I; spermatid development; positive regulation of cyclin-dependent protein kinase activity involved in G2/M | 14q24.1 |
| HSPA4 | response to stress; response to unfolded protein; response to heat; positive regulation of protein binding; protein import into mitochondrial outer membrane; chaperone-mediated protein complex assembly | 5q31.1 |
| HSPA4L | protein folding; response to unfolded protein; response to stress | 4q28 |
| HSPA5 | positive regulation of protein ubiquitination; ATP catabolic process; platelet degranulation; regulation of protein folding in endoplasmic reticulum; proteolysis involved in cellular protein catabolic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; cellular response to glucose starvation; endoplasmic reticulum unfolded protein response; negative regulation of transforming growth factor beta receptor signaling pathway; ER-associated protein catabolic process; platelet activation; cerebellar Purkinje cell layer development; cerebellum structural organization; blood coagulation; activation of signaling protein activity involved in unfolded protein response; ER overload response; anti-apoptosis | 9q33.3 |
| HSPA6 | response to stress; response to unfolded protein | 1q23 |
| HSPA8 | cellular membrane organization; protein folding; post-Golgi vesicle-mediated transport; response to stress; response to unfolded protein; synaptic transmission; neurotransmitter secretion; gene expression; RNA metabolic process; mRNA metabolic process; interspecies interaction between organisms; negative regulation of transcription, DNA-dependent | 11q24.1 |
| HSPA8P1 | - | Xq24 |
| HSPA8P11 | - | 8p12 |
| HSPA8P14 | - | 12q24.12 |
| HSPA8P15 | - | - |
| HSPA8P16 | - | 7q21.11 |
| HSPA8P17 | - | - |
| HSPA8P20 | - | Xq25 |
| HSPA8P4 | - | - |
| HSPA8P5 | - | 12p13.32 |
| HSPA8P6 | - | 2q34 |
| HSPA8P7 | - | - |
| HSPA8P8 | - | 7p21.3 |
| HSPA8P9 | - | 3q22.3 |
| HSPA9 | protein folding; protein export from nucleus; anti-apoptosis | 5q31.1 |
| HSPA9P1 | - | 2q36.3 |
| HSPB1 | negative regulation of apoptotic process; angiogenesis; negative regulation of protein serine/threonine kinase activity; blood vessel endothelial cell migration; regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of tumor necrosis factor biosynthetic process; negative regulation of phosphorylation; cellular response to vascular endothelial growth factor stimulus; endothelial cell chemotaxis; positive regulation of interleukin-1 beta production; mRNA metabolic process; RNA metabolic process; response to virus; cell death; response to unfolded protein; response to stress; cellular component movement; anti-apoptosis; negative regulation of protein kinase activity; regulation of translational initiation; gene expression | 7q11.23 |
| HSPB11 | cell adhesion; response to stress | 1p32 |
| HSPB1P1 | - | 9q21.13 |
| HSPB1P2 | - | Xp11.23 |
| HSPB2 | somatic muscle development; positive regulation of catalytic activity; response to heat; response to unfolded protein | 11q22-q23 |
| HSPB3 | response to unfolded protein; cell death; response to stress | 5q11.2 |
| HSPB6 | regulation of muscle contraction; response to stress | 19q13.12 |
| HSPB7 | response to stress; response to unfolded protein; regulation of heart contraction; response to heat | 1p36.23-p34.3 |
| HSPB8 | cell death; response to stress | 12q24.23 |
| HSPB9 | response to stress | 17q21.2 |
| HSPBAP1 | - | 3q21.1 |
| HSPBP1 | negative regulation of catalytic activity; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein ubiquitination; protein folding | 19q13.42 |
| HSPC081 | - | 1q23.2 |
| HSPD1 | negative regulation of apoptotic process; B cell cytokine production; MyD88-dependent toll-like receptor signaling pathway; positive regulation of T cell mediated immune response to tumor cell; ATP catabolic process; 'de novo' protein folding; activation of cysteine-type endopeptidase activity involved in apoptotic process; response to unfolded protein; cell death; positive regulation of interferon-gamma production; positive regulation of macrophage activation; B cell activation; T cell activation; B cell proliferation; protein maturation; chaperone-mediated protein complex assembly; positive regulation of T cell activation; protein stabilization; positive regulation of interferon-alpha production; isotype switching to IgG isotypes; interspecies interaction between organisms; positive regulation of apoptotic process; protein refolding; positive regulation of interleukin-6 production; positive regulation of interleukin-10 production; positive regulation of interleukin-12 production | 2q33.1 |
| HSPD1P1 | - | 5p14.3 |
| HSPD1P10 | - | 6q15 |
| HSPD1P11 | - | 5q15 |
| HSPD1P14 | - | 1p35.1 |
| HSPD1P18 | - | 5q31.1 |
| HSPD1P2 | - | 8p23.1 |
| HSPD1P5 | - | 4q31.21 |
| HSPD1P6 | - | 3p22.2 |
| HSPD1P8 | - | 13q31.1 |
| HSPD1P9 | - | 13q13.3 |
| HSPE1 | protein folding; activation of cysteine-type endopeptidase activity involved in apoptotic process; response to stress; response to unfolded protein | 2q33.1 |
| HSPE1P2 | - | 14q23.2 |
| HSPG2 | small molecule metabolic process; cartilage development involved in endochondral bone morphogenesis; cardiac muscle tissue development; embryonic skeletal system morphogenesis; lipoprotein metabolic process; extracellular matrix organization; protein localization; brain development; lipid metabolic process; chondrocyte differentiation; endochondral ossification; angiogenesis | 1p36.1-p34 |
| HSPH1 | response to stress; positive regulation of MHC class I biosynthetic process; chaperone mediated protein folding requiring cofactor; positive regulation of NK T cell activation; response to unfolded protein | 13q12.3 |
| HTATIP2 | regulation of angiogenesis; nuclear import; interspecies interaction between organisms; regulation of apoptotic process; cell differentiation; multicellular organismal development; induction of apoptosis; anti-apoptosis; regulation of transcription from RNA polymerase II promoter | 11p15.1 |
| HTATSF1 | viral genome replication; regulation of transcription elongation, DNA-dependent; regulation of transcription from RNA polymerase II promoter | Xq26.3 |
| HTATSF1P2 | - | 6p25.2 |
| HTN1 | defense response to fungus; defense response to bacterium; killing of cells of other organism; biomineral tissue development | 4q13 |
| HTN3 | defense response to fungus; defense response to bacterium; killing of cells of other organism; biomineral tissue development | 4q13 |
| HTR1A | behavior; regulation of feeding behavior; positive regulation of cell proliferation; serotonin receptor signaling pathway; inhibition of adenylate cyclase activity by serotonin receptor signaling pathway; G-protein coupled receptor signaling pathway | 5q11.2-q13 |
| HTR1B | G-protein signaling, coupled to cyclic nucleotide second messenger; response to cocaine; G-protein coupled receptor internalization; G-protein coupled receptor signaling pathway; response to drug; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; serotonin receptor signaling pathway; synaptic transmission; response to toxin; regulation of dopamine secretion; negative regulation of cAMP biosynthetic process; negative regulation of synaptic transmission, GABAergic; drinking behavior; response to ethanol; bone remodeling; response to mineralocorticoid stimulus; negative regulation of synaptic transmission, glutamatergic; cellular response to temperature stimulus | 6q13 |
| HTR1D | synaptic transmission; G-protein signaling, coupled to cyclic nucleotide second messenger; serotonin receptor signaling pathway; response to toxin; intestine smooth muscle contraction | 1p36.3-p34.3 |
| HTR1E | G-protein coupled receptor signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; serotonin receptor signaling pathway; synaptic transmission | 6q14-q15 |
| HTR1F | serotonin receptor signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; synaptic transmission | 3p12 |
| HTR2A | negative regulation of potassium ion transport; temperature homeostasis; phosphatidylinositol biosynthetic process; response to stress; activation of phospholipase C activity by serotonin receptor signaling pathway; serotonin receptor signaling pathway; synaptic transmission; aging; memory; cell death; regulation of dopamine secretion; phosphatidylinositol 3-kinase cascade; sensory perception of pain; sleep; ERK1 and ERK2 cascade; negative regulation of synaptic transmission, glutamatergic; release of sequestered calcium ion into cytosol; positive regulation of vasoconstriction; positive regulation of MAP kinase activity; response to drug; positive regulation of cell proliferation | 13q14-q21 |
| HTR2B | regulation of behavior; positive regulation of nitric-oxide synthase activity; release of sequestered calcium ion into cytosol; positive regulation of cell division; negative regulation of apoptotic process; negative regulation of cell death; ERK1 and ERK2 cascade; protein kinase C signaling cascade; calcium ion transmembrane transport; cellular response to calcium ion; cellular response to temperature stimulus; neural crest cell differentiation; neural crest cell migration; positive regulation of cytokine production; positive regulation of cytokine secretion; positive regulation of endothelial cell proliferation; G-protein coupled receptor internalization; heart morphogenesis; cardiac muscle hypertrophy; phosphatidylinositol 3-kinase cascade; embryonic morphogenesis; negative regulation of autophagy; positive regulation of cell proliferation; serotonin receptor signaling pathway; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; G-protein coupled receptor signal | 2q36.3-q37.1 |
| HTR2C | release of sequestered calcium ion into cytosol; cGMP biosynthetic process; phosphatidylinositol biosynthetic process; serotonin receptor signaling pathway; synaptic transmission; feeding behavior; response to drug; ERK1 and ERK2 cascade | Xq24 |
| HTR3A | serotonin receptor signaling pathway; transmembrane transport; ion transmembrane transport; digestion; synaptic transmission; ion transport; transport | 11q23.1 |
| HTR3B | transport; cation transport; serotonin receptor signaling pathway; synaptic transmission; ion transmembrane transport; transmembrane transport; cellular response to growth factor stimulus | 11q23.1 |
| HTR3C | ion transmembrane transport; transmembrane transport | 3q27.1 |
| HTR3D | ion transmembrane transport; transmembrane transport | 3q27.1 |
| HTR3E | ion transmembrane transport; transmembrane transport | 3q27.1 |
| HTR4 | gamma-aminobutyric acid signaling pathway; positive regulation of cell proliferation; serotonin receptor signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor signaling pathway | 5q31-q33 |
| HTR5A | G-protein coupled receptor signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; serotonin receptor signaling pathway; brain development; cAMP-mediated signaling; hippocampus development; response to estradiol stimulus | 7q36.1 |
| HTR5BP | - | 2q14.1 |
| HTR6 | G-protein signaling, coupled to cyclic nucleotide second messenger; synaptic transmission | 1p36-p35 |
| HTR7 | G-protein signaling, coupled to cyclic nucleotide second messenger; serotonin receptor signaling pathway; activation of adenylate cyclase activity by serotonin receptor signaling pathway; synaptic transmission; circadian rhythm; blood circulation | 10q21-q24 |
| HTR7P1 | - | 12p13.1 |
| HTRA1 | regulation of cell growth; negative regulation of BMP signaling pathway; negative regulation of transforming growth factor beta receptor signaling pathway; proteolysis | 10q26.3 |
| HTRA2 | proteolysis; cleavage of cytoskeletal proteins involved in apoptosis; response to stress; mitochondrion organization; cell cycle arrest; adult walking behavior; induction of apoptosis by intracellular signals; positive regulation of cell death; forebrain development; regulation of multicellular organism growth; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; neuron development; cellular response to growth factor stimulus; execution phase of apoptosis; positive regulation of intrinsic apoptotic signaling pathway; positive regulation of apoptotic process | 2p12 |
| HTRA3 | regulation of cell growth; proteolysis | 4p16.1 |
| HTRA4 | proteolysis; regulation of cell growth | 8p11.22 |
| HTT | retrograde vesicle-mediated transport, Golgi to ER; establishment of mitotic spindle orientation; negative regulation of extrinsic apoptotic signaling pathway; organ development; vesicle transport along microtubule; regulation of protein phosphatase type 2A activity; cell death; Golgi organization; apoptotic process | 4p16.3 |
| HULC | - | 6p24.3 |
| HUNK | multicellular organismal development; signal transduction | 21q22.1 |
| HUS1 | mitotic cell cycle G1/S transition checkpoint; cell cycle checkpoint; DNA damage checkpoint; double-strand break repair via homologous recombination; DNA replication; DNA repair; protein phosphorylation; response to DNA damage stimulus; negative regulation of DNA replication; response to UV; embryo development; cellular response to ionizing radiation | 7p13-p12 |
| HUS1B | - | 6p25.3 |
| HUWE1 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; cell differentiation; histone ubiquitination; protein monoubiquitination; protein modification process; protein polyubiquitination; base-excision repair | Xp11.22 |
| HVCN1 | ion transport; response to pH; response to zinc ion; proton transport; transmembrane transport | 12q24.11 |
| HYAL1 | cellular response to UV-B; cellular response to pH; cellular response to tumor necrosis factor; cellular response to interleukin-1; cartilage development; positive regulation of epithelial cell proliferation; response to antibiotic; positive regulation of growth; positive regulation of angiogenesis; carbohydrate metabolic process; inflammatory response; cell death; negative regulation of cell proliferation; response to virus; positive regulation of epithelial cell migration; hyaluronan metabolic process; positive regulation of cell adhesion; positive regulation of S phase of mitotic cell cycle; negative regulation of cell growth; positive regulation of cell growth; hyaluronan catabolic process; hyaluronan biosynthetic process | 3p21.3-p21.2 |
| HYAL2 | cellular response to tumor necrosis factor; cellular response to UV-B; cellular response to transforming growth factor beta stimulus; cellular response to interleukin-1; renal water absorption; negative regulation of protein tyrosine kinase activity; negative regulation of protein kinase B signaling cascade; cartilage development; entry of virus into host cell; response to antibiotic; positive regulation of transcription from RNA polymerase II promoter; negative regulation of MAP kinase activity; positive regulation of apoptotic process; positive regulation of protein import into nucleus; positive regulation of urine volume; negative regulation of cell growth; hyaluronan catabolic process; transformation of host cell by virus; translocation of virus into host cell; response to virus; glycosaminoglycan catabolic process; carbohydrate metabolic process | 3p21.3 |
| HYAL3 | cellular response to tumor necrosis factor; cellular response to UV-B; cellular response to interleukin-1; cartilage development; response to antibiotic; hyaluronan catabolic process; response to virus; inflammatory response; carbohydrate metabolic process | 3p21.3 |
| HYAL4 | glycosaminoglycan catabolic process; carbohydrate metabolic process; fusion of sperm to egg plasma membrane | 7q31.3 |
| HYALP1 | - | 7q31.3 |
| HYDIN | - | 16q22.2 |
| HYI | - | 1p34.2 |
| HYKK | - | 15q25.1 |
| HYLS1 | - | 11q24.2 |
| HYMAI | - | 6q24.2 |
| HYOU1 | response to hypoxia; response to stress; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response | 11q23.1-q23.3 |
| HYPK | - | 15q15.3 |
| HYPM | - | Xp21.1 |
| IAH1 | lipid catabolic process | 2p25.1 |
| IARS | tRNA aminoacylation for protein translation; isoleucyl-tRNA aminoacylation; gene expression | 9q21 |
| IARS2 | tRNA aminoacylation for protein translation; isoleucyl-tRNA aminoacylation; gene expression | 1q41 |
| IBA57 | glycine catabolic process; heme biosynthetic process | 1q42.13 |
| IBSP | cell adhesion; ossification; cellular response to growth factor stimulus; biomineral tissue development; extracellular matrix organization | 4q21.1 |
| IBTK | release of sequestered calcium ion into cytosol; negative regulation of protein tyrosine kinase activity; negative regulation of protein phosphorylation | 6q14.1 |
| IBTKP1 | - | 18q12.3 |
| ICA1 | regulation of protein homodimerization activity; neurotransmitter transport | 7p22 |
| ICA1L | - | 2q33.2 |
| ICAM1 | positive regulation of vasoconstriction; response to ethanol; response to copper ion; virion attachment, binding of host cell surface receptor; regulation of immune response; leukocyte migration; positive regulation of NF-kappaB transcription factor activity; adhesion to symbiont; negative regulation of calcium ion transport; interferon-gamma-mediated signaling pathway; cellular response to lipopolysaccharide; cellular response to alkaloid; cellular response to glucose stimulus; cellular response to interleukin-1; cellular response to tumor necrosis factor; cellular response to hypoxia; heterophilic cell-cell adhesion; cell aging; regulation of leukocyte mediated cytotoxicity; response to amphetamine; T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell; T cell antigen processing and presentation; positive regulation of cellular extravasation; ovarian follicle development; positive regulation of nitric oxide biosynthetic process; cell adhesion; leukocyte | 19p13.3-p13.2 |
| ICAM2 | cell-cell adhesion; regulation of immune response | 17q23.3 |
| ICAM3 | cell-cell adhesion; regulation of immune response | 19p13.3-p13.2 |
| ICAM4 | regulation of immune response; cell-cell adhesion | 19p13.2-cen |
| ICAM5 | cell-cell adhesion | 19p13.2 |
| ICE1 | - | 5p15.32 |
| ICE2 | - | 15q22.2 |
| ICK | protein phosphorylation; signal transduction; intracellular protein kinase cascade; multicellular organismal development | 6p12.1 |
| ICMT | C-terminal protein methylation; protein localization; positive regulation of cell proliferation; multicellular organism growth; S-adenosylhomocysteine metabolic process; S-adenosylmethioninamine metabolic process; protein targeting to membrane; protein modification process; liver development; in utero embryonic development; regulation of Ras protein signal transduction | 1p36.21 |
| ICOS | immune response; T cell costimulation | 2q33 |
| ICOSLG | B cell activation; T cell activation; positive regulation of activated T cell proliferation; defense response; hyperosmotic response; signal transduction; T cell costimulation | 21q22.3 |
| ICT1 | mitochondrial translational termination | 17q25.1 |
| ID1 | BMP signaling pathway; angiogenesis; protein destabilization; collagen metabolic process; negative regulation of DNA binding; regulation of MAPK cascade; negative regulation of sequence-specific DNA binding transcription factor activity; blood vessel endothelial cell migration; negative regulation of osteoblast differentiation; regulation of angiogenesis; negative regulation of transcription, DNA-dependent; response to antibiotic; blood vessel morphogenesis; lung morphogenesis; lung vasculature development; heart development; multicellular organismal development; transforming growth factor beta receptor signaling pathway; apoptotic process; endothelial cell morphogenesis; negative regulation of transcription by transcription factor localization; negative regulation of transcription from RNA polymerase II promoter | 20q11 |
| ID2 | positive regulation of smooth muscle cell proliferation; positive regulation of fat cell differentiation; embryonic digestive tract morphogenesis; Peyer's patch development; cell maturation; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of cell cycle; positive regulation of blood pressure; negative regulation of osteoblast differentiation; negative regulation of neuron differentiation; negative regulation of neural precursor cell proliferation; positive regulation of erythrocyte differentiation; neuron fate commitment; positive regulation of astrocyte differentiation; negative regulation of oligodendrocyte differentiation; adipose tissue development; mammary gland alveolus development; regulation of G1/S transition of mitotic cell cycle; cellular senescence; positive regulation of transcription involved in G1/S phase of mitotic cell cycle; cellular response to lithium ion; positive regulation of cell cycle arrest; endodermal diges | 2p25 |
| ID2B | - | 3p14.2 |
| ID3 | central nervous system development; heart development; response to wounding; neuron differentiation; epithelial cell differentiation; notochord development; odontogenesis; positive regulation of apoptotic process; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of osteoblast differentiation; negative regulation of transcription, DNA-dependent; regulation of cell cycle; regulation of DNA replication; metanephros development; negative regulation of transcription from RNA polymerase II promoter; multicellular organismal development | 1p36.13-p36.12 |
| ID4 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of oligodendrocyte differentiation; negative regulation of astrocyte differentiation; negative regulation of transcription, DNA-dependent; positive regulation of osteoblast differentiation; negative regulation of neuron differentiation; negative regulation of fat cell differentiation; cellular protein localization; central nervous system myelination; cerebral cortex neuron differentiation; hippocampus development; positive regulation of cell proliferation; neuroblast proliferation; regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; G1/S transition of mitotic cell cycle; brain development | 6p22.3 |
| IDE | interspecies interaction between organisms; proteolysis involved in cellular protein catabolic process; protein heterooligomerization; protein homotetramerization; beta-amyloid metabolic process; negative regulation of proteolysis; hormone catabolic process; bradykinin catabolic process; sex differentiation; proteolysis; signal transduction | 10q23-q25 |
| IDH1 | tricarboxylic acid cycle; small molecule metabolic process; cellular lipid metabolic process; response to oxidative stress; glutathione metabolic process; NADPH regeneration; 2-oxoglutarate metabolic process; isocitrate metabolic process; glyoxylate cycle | 2q33.3 |
| IDH1-AS1 | - | - |
| IDH2 | 2-oxoglutarate metabolic process; small molecule metabolic process; carbohydrate metabolic process; glyoxylate cycle; tricarboxylic acid cycle; isocitrate metabolic process | 15q26.1 |
| IDH3A | carbohydrate metabolic process; tricarboxylic acid cycle; isocitrate metabolic process; 2-oxoglutarate metabolic process; NADH metabolic process; small molecule metabolic process | 15q25.1-q25.2 |
| IDH3B | small molecule metabolic process; NADH metabolic process; 2-oxoglutarate metabolic process; isocitrate metabolic process; tricarboxylic acid cycle | 20p13 |
| IDH3G | 2-oxoglutarate metabolic process; isocitrate metabolic process; tricarboxylic acid cycle; carbohydrate metabolic process; NADH metabolic process; small molecule metabolic process; negative regulation of growth | Xq28 |
| IDI1 | cholesterol biosynthetic process; isoprenoid biosynthetic process; response to stilbenoid; small molecule metabolic process | 10p15.3 |
| IDI2 | cholesterol biosynthetic process; small molecule metabolic process; isoprenoid biosynthetic process | 10p15.3 |
| IDI2-AS1 | - | 10p15.3 |
| IDNK | carbohydrate metabolic process | 9q21.32 |
| IDO1 | small molecule metabolic process; tryptophan catabolic process; female pregnancy; cellular nitrogen compound metabolic process | 8p12-p11 |
| IDO2 | tryptophan catabolic process; tryptophan catabolic process to kynurenine; cellular nitrogen compound metabolic process; small molecule metabolic process | 8p11.21 |
| IDS | - | Xq28 |
| IDSP1 | - | Xq27.3-q28 |
| IDUA | lysosome organization; skeletal system morphogenesis; chemical homeostasis; limb morphogenesis; disaccharide metabolic process; cell morphogenesis; carbohydrate metabolic process | 4p16.3 |
| IER2 | - | 19p13.2 |
| IER3 | apoptotic process; negative regulation of systemic arterial blood pressure; response to protozoan; anatomical structure morphogenesis; positive regulation of apoptotic process; positive regulation of protein catabolic process; negative regulation of glycolysis; negative regulation of inflammatory response; regulation of reactive oxygen species metabolic process; anti-apoptosis | 6p21.3 |
| IER3IP1 | regulation of apoptotic process | 18q12 |
| IER5 | - | 1q25.3 |
| IER5L | - | 9q34.11 |
| IFFO1 | - | 12p13.3 |
| IFFO2 | - | 1p36.13 |
| IFI16 | DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; negative regulation of transcription, DNA-dependent; monocyte differentiation; myeloid cell differentiation; hemopoiesis; response to virus; cell proliferation; regulation of transcription, DNA-dependent | 1q22 |
| IFI27 | activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis by extracellular signals; activation of pro-apoptotic gene products; cytokine-mediated signaling pathway; type I interferon-mediated signaling pathway | 14q32 |
| IFI27L1 | - | 14q32.12 |
| IFI27L2 | - | 14q32.12 |
| IFI35 | type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway; immune response; response to virus | 17q21 |
| IFI44 | response to virus | 1p31.1 |
| IFI44L | response to virus; immune response | 1p31.1 |
| IFI6 | release of cytochrome c from mitochondria; anti-apoptosis; immune response; cytokine-mediated signaling pathway; type I interferon-mediated signaling pathway; negative regulation of mitochondrial depolarization; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 1p35 |
| IFIH1 | positive regulation of interferon-alpha production; positive regulation of interferon-beta production; regulation of apoptotic process; negative regulation of type I interferon production; interspecies interaction between organisms; detection of virus; innate immune response | 2q24 |
| IFIT1 | response to virus; intracellular transport of viral proteins in host cell; cellular response to exogenous dsRNA; cytokine-mediated signaling pathway; negative regulation of protein binding; negative regulation of defense response to virus by host; negative regulation of helicase activity; type I interferon-mediated signaling pathway; cellular response to type I interferon; regulation of defense response to virus; negative regulation of viral genome replication; positive regulation of viral genome replication | 10q23.31 |
| IFIT1P1 | - | 13q13.1 |
| IFIT2 | cellular response to interferon-alpha; type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway; response to virus; negative regulation of protein binding | 10q23.31 |
| IFIT3 | type I interferon-mediated signaling pathway; cellular response to interferon-alpha; cytokine-mediated signaling pathway | 10q24 |
| IFIT5 | - | 10q23.31 |
| IFIT6P | - | 10q23.31 |
| IFITM1 | cell surface receptor signaling pathway; type I interferon-mediated signaling pathway; regulation of immune response; innate immune response; cytokine-mediated signaling pathway; response to virus; response to biotic stimulus; negative regulation of cell proliferation | 11p15.5 |
| IFITM10 | response to biotic stimulus | 11p15.5 |
| IFITM2 | cytokine-mediated signaling pathway; response to virus; response to biotic stimulus; innate immune response; type I interferon-mediated signaling pathway; immune response | 11p15.5 |
| IFITM3 | type I interferon-mediated signaling pathway; innate immune response; cytokine-mediated signaling pathway; response to virus; response to biotic stimulus; immune response | 11p15.5 |
| IFITM4P | - | 6p22.1 |
| IFITM9P | - | 11q13.3 |
| IFNA1 | - | 9p22 |
| IFNA10 | regulation of type I interferon-mediated signaling pathway; blood coagulation; response to virus; cytokine-mediated signaling pathway; innate immune response; type I interferon-mediated signaling pathway | 9p22 |
| IFNA11P | - | 9p21.3 |
| IFNA17 | cytokine-mediated signaling pathway; innate immune response; type I interferon-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; blood coagulation; response to virus | 9p22 |
| IFNA21 | blood coagulation; response to virus; cytokine-mediated signaling pathway; innate immune response; type I interferon-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway | 9p22 |
| IFNA22P | - | 9p22 |
| IFNA6 | type I interferon-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway; innate immune response; blood coagulation; response to virus | 9p22 |
| IFNA7 | innate immune response; cell-cell signaling; blood coagulation; response to virus; cytokine-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; type I interferon-mediated signaling pathway | 9p22 |
| IFNAR1 | response to virus; regulation of type I interferon-mediated signaling pathway; type I interferon-mediated signaling pathway; defense response to virus; type I interferon biosynthetic process; T cell activation; positive regulation of interferon-gamma production; cytokine-mediated signaling pathway; JAK-STAT cascade; cell surface receptor signaling pathway | 21q22.11 |
| IFNAR2 | regulation of type I interferon-mediated signaling pathway; type I interferon-mediated signaling pathway; response to interferon-alpha; cytokine-mediated signaling pathway; response to virus; cell proliferation; JAK-STAT cascade; cell surface receptor signaling pathway; regulation of transcription from RNA polymerase II promoter | 21q22.11 |
| IFNE | defense response; response to virus | 9p21.3 |
| IFNG | positive regulation of cell adhesion; positive regulation of peptidyl-serine phosphorylation of STAT protein; positive regulation of osteoclast differentiation; positive regulation of neuron differentiation; positive regulation of nitric oxide biosynthetic process; positive regulation of interleukin-6 biosynthetic process; positive regulation of MHC class II biosynthetic process; positive regulation of interleukin-12 biosynthetic process; positive regulation of chemokine biosynthetic process; negative regulation of growth of symbiont in host; defense response to protozoan; defense response to bacterium; positive regulation of tyrosine phosphorylation of Stat1 protein; response to drug; positive regulation of T cell proliferation; regulation of growth; positive regulation of smooth muscle cell apoptosis; interferon-gamma-mediated signaling pathway; positive regulation of tumor necrosis factor (ligand) superfamily member 11 production; negative regulation of metanephric nephron tubule epithelial cell differenti | 12q14 |
| IFNG-AS1 | - | 12q15 |
| IFNGR1 | cytokine-mediated signaling pathway; signal transduction; interferon-gamma-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway; response to virus | 6q23.3 |
| IFNGR2 | interferon-gamma-mediated signaling pathway; cytokine-mediated signaling pathway; response to virus; cell surface receptor signaling pathway; regulation of interferon-gamma-mediated signaling pathway | 21q22.11 |
| IFNL1 | - | 19q13.13 |
| IFNL2 | - | 19q13.13 |
| IFNL3P1 | - | - |
| IFNLR1 | - | 1p36.11 |
| IFRD1 | multicellular organismal development; myoblast cell fate determination; adult somatic muscle development; muscle cell differentiation | 7q31.1 |
| IFRD2 | - | 3p21.3 |
| IFT140 | - | 16p13.3 |
| IFT172 | smoothened signaling pathway; cilium assembly; protein processing; determination of left/right symmetry; neural tube formation; dorsal/ventral pattern formation; multicellular organismal development | 2p23.3 |
| IFT20 | cell projection organization | 17q11.2 |
| IFT22 | small GTPase mediated signal transduction | 7q22.1 |
| IFT27 | small GTPase mediated signal transduction | 22q13.1 |
| IFT43 | cilium morphogenesis; intraflagellar retrograde transport; cell projection organization | 14q24.3 |
| IFT46 | flagellum assembly; intraflagellar transport; protein stabilization | 11q23.3 |
| IFT52 | dorsal/ventral pattern formation; embryonic digit morphogenesis; positive regulation of proteolysis; smoothened signaling pathway; determination of left/right symmetry; heart looping; neural tube formation | - |
| IFT57 | regulation of apoptotic process; regulation of transcription, DNA-dependent; apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process | 3q13.13 |
| IFT74 | - | 9p21.2 |
| IFT80 | - | 3q25.33 |
| IFT81 | spermatogenesis; cell differentiation; multicellular organismal development | 12q24.13 |
| IFT88 | lung vasculature development; in utero embryonic development; smoothened signaling pathway; determination of left/right symmetry; nervous system development; organ morphogenesis; cardiac septum morphogenesis; cilium morphogenesis; forebrain morphogenesis; embryonic organ development; positive regulation of proteolysis; embryonic digit morphogenesis; regulation of odontogenesis of dentin-containing tooth; cell projection organization; telencephalon development; protein processing; dorsal/ventral pattern formation; anterior/posterior pattern specification; brain development | 13q12.1 |
| IGANRP | - | - |
| IGAT | - | 6p21.3 |
| IGBP1 | response to interleukin-1; regulation of microtubule-based movement; positive regulation of transcription from RNA polymerase II promoter; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; B cell activation; negative regulation of protein dephosphorylation; positive regulation of dephosphorylation; response to tumor necrosis factor; negative regulation of stress-activated MAPK cascade; regulation of signal transduction; signal transduction; negative regulation of transcription from RNA polymerase II promoter | Xq13.1-q13.3 |
| IGBP1P1 | - | 14q13.2 |
| IGBP1P2 | - | 17q22 |
| IGBP1P3 | - | 3p22.3 |
| IGBP1P4 | - | 4q21.22 |
| IGDCC3 | neuromuscular process controlling balance | 15q22.3-q23 |
| IGDCC4 | - | 15q22.31 |
| IGF1 | positive regulation of DNA replication; positive regulation of glycolysis; positive regulation of mitosis; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of glucose import; positive regulation of Ras protein signal transduction; phosphatidylinositol-mediated signaling; lung vasculature development; positive regulation of fibroblast proliferation; positive regulation of glycogen biosynthetic process; positive regulation of osteoblast differentiation; myoblast differentiation; positive regulation of insulin-like growth factor receptor signaling pathway; positive regulation of MAPK cascade; positive regulation of DNA binding; positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of activated T cell proliferation; regulation of multicellular organism growth; bone mineralization involved in bone maturation; lung lobe morphogenesis; Type II pneumocyte differentiation; prostate epithelial c | 12q23.2 |
| IGF1R | establishment of cell polarity; male sex determination; positive regulation of cell migration; mammary gland development; exocrine pancreas development; neuron projection development; positive regulation of cytokinesis; response to vitamin E; negative regulation of apoptotic process; positive regulation of MAPK cascade; positive regulation of DNA replication; positive regulation of anti-apoptosis; regulation of JNK cascade; inactivation of MAPKK activity; protein autophosphorylation; insulin-like growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; protein tetramerization; protein heterooligomerization; organ morphogenesis; positive regulation of steroid hormone biosynthetic process; prostate gland epithelium morphogenesis; negative regulation of protein kinase B signaling cascade; positive regulation of protein kinase B signaling cascade; anti-apoptosis; immune response; signal transduction; axonogenesis; brain development; positive regulation of cell proliferation; insulin rece | 15q26.3 |
| IGF2 | positive regulation of activated T cell proliferation; insulin receptor signaling pathway via phosphatidylinositol 3-kinase cascade; insulin receptor signaling pathway; positive regulation of cell proliferation; positive regulation of catalytic activity; multicellular organismal development; positive regulation of MAPK cascade; positive regulation of glycogen biosynthetic process; positive regulation of mitosis; positive regulation of insulin receptor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of cell division; positive regulation of protein kinase B signaling cascade; positive regulation of protein serine/threonine kinase activity; positive regulation of receptor activity; positive regulation of glycogen (starch) synthase activity; regulation of gene expression by genetic imprinting; glucose metabolic process; carbohydrate metabolic process; positive regulation of protein phosphorylation; ossification; skeletal system development; regulation of transcript | 11p15.5 |
| IGF2-AS | - | 11p15.5 |
| IGF2BP1 | CRD-mediated mRNA stabilization; RNA localization; regulation of mRNA stability involved in response to stress; negative regulation of translation; regulation of cytokine biosynthetic process | 17q21.32 |
| IGF2BP2 | anatomical structure morphogenesis; negative regulation of translation; regulation of cytokine biosynthetic process | 3q27.2 |
| IGF2BP2-AS1 | - | 3q27.2 |
| IGF2BP3 | anatomical structure morphogenesis; translation; regulation of cytokine biosynthetic process; negative regulation of translation | 7p11 |
| IGF2R | insulin-like growth factor receptor signaling pathway; signal transduction; receptor-mediated endocytosis | 6q26 |
| IGFALS | signal transduction; cell adhesion | 16p13.3 |
| IGFBP1 | tissue regeneration; endoplasmic reticulum unfolded protein response; positive regulation of cell growth; insulin receptor signaling pathway; signal transduction; activation of signaling protein activity involved in unfolded protein response | 7p13-p12 |
| IGFBP2 | aging; signal transduction; female pregnancy; regulation of insulin-like growth factor receptor signaling pathway; response to nutrient; response to mechanical stimulus; response to lithium ion; response to estradiol stimulus; response to retinoic acid; cellular response to hormone stimulus; positive regulation of activated T cell proliferation; response to drug; response to stress; regulation of cell growth; response to glucocorticoid stimulus | 2q33-q34 |
| IGFBP3 | protein phosphorylation; negative regulation of smooth muscle cell proliferation; positive regulation of myoblast differentiation; positive regulation of apoptotic process; negative regulation of smooth muscle cell migration; regulation of cell growth; negative regulation of protein phosphorylation; negative regulation of signal transduction; negative regulation of cell proliferation | 7p13-p12 |
| IGFBP4 | type B pancreatic cell proliferation; positive regulation of insulin-like growth factor receptor signaling pathway; positive regulation of MAPK cascade; regulation of glucose metabolic process; cell proliferation; signal transduction; inflammatory response; DNA metabolic process; skeletal system development; regulation of cell growth | 17q12-q21.1 |
| IGFBP5 | signal transduction; type B pancreatic cell proliferation; regulation of glucose metabolic process; negative regulation of smooth muscle cell migration; negative regulation of translation; negative regulation of cell migration; hair follicle morphogenesis; intracellular signal transduction; glucose homeostasis; positive regulation of insulin-like growth factor receptor signaling pathway; negative regulation of insulin-like growth factor receptor signaling pathway; regulation of cell growth; negative regulation of osteoblast differentiation; skeletal muscle tissue growth; negative regulation of smooth muscle cell proliferation; striated muscle cell differentiation; positive regulation of protein kinase B signaling cascade; mammary gland involution; cellular response to cAMP; cellular response to organic cyclic compound | 2q33-q36 |
| IGFBP6 | regulation of cell growth; signal transduction; negative regulation of cell proliferation | 12q13 |
| IGFBP7 | regulation of cell growth; cell adhesion; negative regulation of cell proliferation | 4q12 |
| IGFBPL1 | regulation of cell growth | 9p13.1 |
| IGFL1 | - | 19q13.32 |
| IGFL1P1 | - | 19q13.32 |
| IGFL2 | - | 19q13.32 |
| IGFL3 | - | 19q13.32 |
| IGFL4 | - | 19q13.32 |
| IGFLR1 | - | 19q13.12 |
| IGFN1 | - | 1q32.1 |
| IGHA1 | immune response; protein-chromophore linkage | 14q32.33 |
| IGHA2 | immune response | 14q32.33 |
| IGHD | immune response | 14q32.33 |
| IGHE | immune response | 14q32.33 |
| IGHEP2 | - | 9p24.1 |
| IGHG1 | complement activation, classical pathway; immune response; complement activation; innate immune response | 14q32.33 |
| IGHG3 | immune response; complement activation; complement activation, classical pathway; innate immune response | 14q32.33 |
| IGHG4 | immune response; complement activation; complement activation, classical pathway; innate immune response | 14q32.33 |
| IGHM | immune response | 14q32.33 |
| IGHMBP2 | translation; regulation of transcription, DNA-dependent; DNA recombination; DNA repair; DNA replication; negative regulation of transcription from RNA polymerase II promoter; cell death; DNA duplex unwinding; protein homooligomerization | 11q13.3 |
| IGHV1-14 | - | 14q32.33 |
| IGHV1-18 | - | 14q32.33 |
| IGHV1-45 | - | 14q32.33 |
| IGHV1-67 | - | 14q32.33 |
| IGHV1-68 | - | 14q32.33 |
| IGHV1-69 | - | 14q32.33 |
| IGHV1OR15-1 | immune response | 15q11.2 |
| IGHV1OR15-3 | - | 15q11.2 |
| IGHV1OR16-1 | - | 16p11.2 |
| IGHV2-70 | complement activation, classical pathway; complement activation; immune response; innate immune response; regulation of immune response | 14q32.33 |
| IGHV2OR16-5 | - | 16p11.2 |
| IGHV3-25 | - | 14q32.33 |
| IGHV3-30-2 | - | 14q32.33 |
| IGHV3-33 | - | 14q32.33 |
| IGHV3-35 | - | 14q32.33 |
| IGHV3-36 | - | 14q32.33 |
| IGHV3-37 | - | 14q32.33 |
| IGHV3-38 | - | 14q32.33 |
| IGHV3-42 | - | 14q32.33 |
| IGHV3-43 | - | 14q32.33 |
| IGHV3-48 | - | 14q32.33 |
| IGHV3-50 | - | 14q32.33 |
| IGHV3-53 | - | 14q32.33 |
| IGHV3-6 | - | 14q32.33 |
| IGHV3-60 | - | 14q32.33 |
| IGHV3-66 | - | 14q32.33 |
| IGHV3-72 | - | 14q32.33 |
| IGHV3-74 | - | 14q32.33 |
| IGHV3-76 | - | 14q32.33 |
| IGHV3OR16-12 | - | 16p11.2 |
| IGHV3OR16-13 | - | 16p11.2 |
| IGHV3OR16-14 | - | 16p11.2 |
| IGHV3OR16-15 | - | 16p11.2 |
| IGHV3OR16-8 | - | 16p11.2 |
| IGHV7-27 | - | 14q32.33 |
| IGHV7-40 | - | 14q32.33 |
| IGHV7-56 | - | 14q32.33 |
| IGHVII-1-1 | - | 14q32.33 |
| IGHVII-15-1 | - | 14q32.33 |
| IGHVII-40-1 | - | 14q32.33 |
| IGHVII-44-2 | - | 14q32.33 |
| IGHVII-53-1 | - | 14q32.33 |
| IGHVII-60-1 | - | 14q32.33 |
| IGHVII-62-1 | - | 14q32.33 |
| IGHVII-65-1 | - | 14q32.33 |
| IGHVII-74-1 | - | 14q32.33 |
| IGHVII-78-1 | - | 14q32.33 |
| IGHVIII-2-1 | - | 14q32.33 |
| IGHVIII-47-1 | - | 14q32.33 |
| IGHVIII-5-1 | - | 14q32.33 |
| IGHVIII-5-2 | - | 14q32.33 |
| IGHVIII-51-1 | - | 14q32.33 |
| IGHVIII-67-3 | - | 14q32.33 |
| IGHVIII-76-1 | - | 14q32.33 |
| IGIP | - | 5q31 |
| IGJP1 | - | 8q21.2 |
| IGK | - | 2p12 |
| IGKC | innate immune response; complement activation; complement activation, classical pathway; immune response; regulation of immune response | 2p12 |
| IGKV1-33 | - | 2p12 |
| IGKV1-39 | - | 2p12 |
| IGKV1-6 | - | 2p12 |
| IGKV1D-12 | - | 2p12 |
| IGKV1D-16 | - | 2p12 |
| IGKV1D-17 | - | 2p12 |
| IGKV1D-27 | - | 2p12 |
| IGKV1D-33 | innate immune response; regulation of immune response; complement activation, classical pathway; complement activation; immune response | 2p12 |
| IGKV1D-35 | - | 2p12 |
| IGKV1D-42 | - | 2p12 |
| IGKV1OR10-1 | - | 10q11.21 |
| IGKV1OR2-108 | - | 2q12-q14 |
| IGKV1OR2-118 | - | 2p11.1 |
| IGKV1OR2-3 | - | - |
| IGKV1OR2-6 | - | - |
| IGKV1OR22-1 | - | 22q11.1 |
| IGKV2-10 | - | 2p12 |
| IGKV2-24 | - | 2p12 |
| IGKV2-28 | - | 2p12 |
| IGKV2-29 | - | 2p12 |
| IGKV2-4 | - | 2p12 |
| IGKV2D-26 | - | 2p12 |
| IGKV2D-29 | - | 2p12 |
| IGKV2D-30 | - | 2p12 |
| IGKV2D-40 | - | 2p12 |
| IGKV2OR2-7 | - | 2q11.2 |
| IGKV3-15 | - | 2p12 |
| IGKV3-7 | - | 2p12 |
| IGKV3D-7 | - | 2p12 |
| IGKV3OR2-268 | - | 2p12 |
| IGKV3OR2-5 | - | - |
| IGKV4-1 | complement activation; innate immune response; complement activation, classical pathway; regulation of immune response; immune response | 2p12 |
| IGKV6-21 | - | 2p12 |
| IGKV7-3 | - | 2p12 |
| IGL | - | 22q11.2 |
| IGLC1 | regulation of immune response; innate immune response; complement activation, classical pathway; complement activation; immune response | 22q11.2 |
| IGLC4 | - | 22q11.2 |
| IGLC5 | - | 22q11.2 |
| IGLCOR22-2 | - | 22q12.2-q12.3 |
| IGLJ4 | - | 22q11.2 |
| IGLJCOR18 | - | 18p11.31 |
| IGLL1 | immune response | 22q11.23 |
| IGLL3P | - | 22q11.23 |
| IGLL5 | - | 22q11.22 |
| IGLON5 | - | 19q13.41 |
| IGLV1-36 | - | 22q11.2 |
| IGLV1-41 | - | 22q11.2 |
| IGLV1-44 | - | 22q11.2 |
| IGLV1-47 | - | 22q11.2 |
| IGLV1-50 | - | 22q11.2 |
| IGLV1-62 | - | 22q11.2 |
| IGLV11-55 | - | 22q11.2 |
| IGLV2-11 | - | 22q11.2 |
| IGLV2-28 | - | 22q11.2 |
| IGLV2-33 | - | 22q11.2 |
| IGLV2-34 | - | 22q11.2 |
| IGLV3-12 | - | 22q11.2 |
| IGLV3-2 | - | 22q11.2 |
| IGLV3-22 | - | 22q11.2 |
| IGLV3-24 | - | 22q11.2 |
| IGLV3-25 | - | 22q11.2 |
| IGLV3-27 | - | 22q11.2 |
| IGLV3-32 | - | 22q11.2 |
| IGLV3-7 | - | 22q11.2 |
| IGLV4-60 | - | 22q11.2 |
| IGLV5-48 | - | 22q11.2 |
| IGLV6-57 | - | 22q11.2 |
| IGLV7-35 | - | 22q11.2 |
| IGLV7-46 | - | 22q11.2 |
| IGLVI-20 | - | 22q11.2 |
| IGLVI-56 | - | 22q11.2 |
| IGLVI-63 | - | 22q11.2 |
| IGLVIV-53 | - | 22q11.2 |
| IGLVIV-59 | - | 22q11.2 |
| IGLVIV-64 | - | 22q11.2 |
| IGLVIV-65 | - | 22q11.2 |
| IGLVIVOR22-2 | - | 22q12.2-q12.3 |
| IGSF1 | signal transduction; regulation of transcription, DNA-dependent | Xq25 |
| IGSF10 | tissue regeneration; cell differentiation; multicellular organismal development; ossification | 3q25.1 |
| IGSF11 | regulation of growth; cell adhesion | 3q13.32 |
| IGSF21 | - | 1p36.13 |
| IGSF22 | - | 11p15.1 |
| IGSF23 | - | 19q13.31 |
| IGSF3 | - | 1p13 |
| IGSF5 | - | 21q22.2 |
| IGSF6 | cell surface receptor signaling pathway; immune response | 16p12.2 |
| IGSF8 | cell proliferation; cellular component movement; single fertilization; nervous system development; skeletal muscle tissue development | 1q23.1 |
| IGSF9 | dendrite development; nervous system development; multicellular organismal development; cell differentiation | 1q22-q23 |
| IGSF9B | - | 11q25 |
| IHH | positive regulation of alpha-beta T cell differentiation; regulation of growth; patterning of blood vessels; camera-type eye development; negative regulation of apoptotic process; bone resorption; negative regulation of cell differentiation; positive regulation of smoothened signaling pathway; positive regulation of transcription from RNA polymerase II promoter; multicellular organism growth; negative regulation of alpha-beta T cell differentiation; negative regulation of eye pigmentation; cell maturation; embryonic digestive tract morphogenesis; embryonic camera-type eye morphogenesis; neuron development; smooth muscle tissue development; positive regulation of epithelial cell proliferation; cartilage development; maternal process involved in female pregnancy; negative regulation of signal transduction; cell fate specification; morphogenesis of a branching structure; vasculature development; heart looping; positive regulation of mesenchymal cell proliferation; epithelial cell morphogenesis; retinal pigment e | 2q33-q35 |
| IK | immune response; cell-cell signaling | 5q31.3 |
| IKBIP | response to X-ray; induction of apoptosis | 12q23.1 |
| IKBKAP | I-kappaB phosphorylation; signal transduction; immune response; protein phosphorylation; protein complex assembly; transcription elongation from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 9q31 |
| IKBKB | toll-like receptor 3 signaling pathway; innate immune response; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of transcription, DNA-dependent; nerve growth factor receptor signaling pathway; T cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; nucleotide-binding oligomerization domain containing signaling pathway; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; protein phosphorylation; anti-apoptosis; inflammatory response; I-kappaB kinase/NF-kappaB cascade; I-kappaB phosphorylation; Toll signaling pathway; response to virus | 8p11.2 |
| IKBKE | Toll signaling pathway; response to DNA damage stimulus; immune response; protein phosphorylation; MyD88-independent toll-like receptor signaling pathway; innate immune response; DNA damage response, signal transduction resulting in induction of apoptosis; negative regulation of type I interferon production; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; NIK/NF-kappaB cascade; positive regulation of I-kappaB kinase/NF-kappaB cascade | 1q32.1 |
| IKBKG | toll-like receptor 4 signaling pathway; JNK cascade; TRIF-dependent toll-like receptor signaling pathway; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; interspecies interaction between organisms; innate immune response; T cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; stress-activated MAPK cascade; nucleotide-binding oligomerization domain containing signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; response to virus; Toll signaling pathway; toll-like receptor 3 signaling pathway; activation of NF-kappaB-inducing kinase activity; I-kappaB kinase/NF-kappaB cascade; response to DNA damage stimulus; immune response; inflammatory response; induction of apoptosis; regulation of transcription, DNA-dependent; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll- | Xq28 |
| IKBKGP1 | - | Xq28 |
| IKZF1 | natural killer cell differentiation; cell cycle; multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; mesoderm development; chromatin modification; hemopoiesis; B cell differentiation; T cell differentiation; forebrain development; positive regulation of multicellular organism growth; positive regulation of neutrophil differentiation; positive regulation of transcription from RNA polymerase II promoter; lymph node development; thymus development; Peyer's patch development; gland development; positive regulation of NK T cell differentiation; retina development in camera-type eye | 7p13-p11.1 |
| IKZF2 | positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 2q34 |
| IKZF3 | regulation of B cell differentiation; regulation of transcription from RNA polymerase II promoter; mesoderm development; regulation of B cell proliferation; B cell activation; regulation of apoptotic process; regulation of lymphocyte differentiation | 17q21 |
| IKZF4 | negative regulation of transcription, DNA-dependent | 12q13 |
| IKZF5 | regulation of transcription, DNA-dependent | 10q26 |
| IL10 | defense response to bacterium; negative regulation of growth of symbiont in host; negative regulation of nitric oxide biosynthetic process; regulation of isotype switching; negative regulation of MHC class II biosynthetic process; positive regulation of MHC class II biosynthetic process; negative regulation of interferon-alpha biosynthetic process; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cytokine secretion; negative regulation of inflammatory response; negative regulation of membrane protein ectodomain proteolysis; positive regulation of sequence-specific DNA binding transcription factor activity; response to glucocorticoid stimulus; regulation of sensory perception of pain; branching involved in embryonic placenta morphogenesis; cellular response to lipopolysaccharide; cellular response to estradiol stimulus; leukocyte chemotaxis; negative regulation of tumor necrosis factor biosynthetic process; respons | 1q31-q32 |
| IL10RA | signal transduction | 11q23 |
| IL10RB | immune response; signal transduction; inflammatory response | 21q22.11 |
| IL10RB-AS1 | - | 21q22.11 |
| IL11 | cell-cell signaling; positive regulation of cell proliferation; platelet activation; B cell differentiation; megakaryocyte differentiation; positive regulation of peptidyl-serine phosphorylation; positive regulation of MAPK cascade; fat cell differentiation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of hormone secretion; positive regulation of peptidyl-tyrosine phosphorylation | 19q13.3-q13.4 |
| IL11RA | signal transduction; head development; developmental process | 9p13 |
| IL12A | cell cycle arrest; positive regulation of NK T cell activation; defense response to Gram-positive bacterium; positive regulation of lymphocyte proliferation; negative regulation of smooth muscle cell proliferation; positive regulation of natural killer cell mediated cytotoxicity; positive regulation of cell adhesion; defense response to protozoan; positive regulation of tyrosine phosphorylation of Stat4 protein; positive regulation of T cell proliferation; positive regulation of smooth muscle cell apoptosis; positive regulation of interferon-gamma production; positive regulation of T cell mediated cytotoxicity; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; immune response; positive regulation of natural killer cell activation; response to virus; response to UV-B; cell migration; response to lipopolysaccharide; negative regulation of interleukin-17 production | 3q25.33 |
| IL12B | positive regulation of NF-kappaB import into nucleus; positive regulation of interleukin-12 production; positive regulation of interleukin-17 production; positive regulation of interleukin-10 production; positive regulation of tumor necrosis factor production; positive regulation of natural killer cell activation; positive regulation of natural killer cell proliferation; positive regulation of tissue remodeling; positive regulation of smooth muscle cell apoptosis; regulation of cytokine biosynthetic process; T-helper 1 type immune response; T-helper cell differentiation; interferon-gamma biosynthetic process; positive regulation of T cell proliferation; positive regulation of activated T cell proliferation; positive regulation of interferon-gamma production; positive regulation of granulocyte macrophage colony-stimulating factor production; negative regulation of interleukin-17 production; negative regulation of interleukin-10 production; natural killer cell activation; sexual reproduction; cell migration; po | 5q31.1-q33.1 |
| IL12RB1 | cytokine-mediated signaling pathway; positive regulation of T-helper 17 cell lineage commitment; positive regulation of T-helper 17 type immune response; cellular response to interferon-gamma; positive regulation of memory T cell differentiation; positive regulation of activated T cell proliferation; interleukin-12-mediated signaling pathway; positive regulation of interferon-gamma production; positive regulation of T cell mediated cytotoxicity; positive regulation of defense response to virus by host; positive regulation of T-helper 1 type immune response; signal transduction; peptidyl-tyrosine phosphorylation | 19p13.1 |
| IL12RB2 | cell surface receptor signaling pathway; positive regulation of cell proliferation; peptidyl-tyrosine phosphorylation; cytokine-mediated signaling pathway; response to lipopolysaccharide; positive regulation of interferon-gamma production; response to cytokine stimulus | 1p31.3-p31.2 |
| IL13RA1 | cell surface receptor signaling pathway | Xq24 |
| IL13RA2 | signal transduction; cytokine-mediated signaling pathway | Xq13.1-q28 |
| IL15 | hyaluronan metabolic process; positive regulation of T cell proliferation; positive regulation of tyrosine phosphorylation of Stat3 protein; extrathymic T cell selection; positive regulation of tissue remodeling; regulation of T cell differentiation; lymph node development; negative regulation of smooth muscle cell proliferation; regulation of defense response to virus by host; positive regulation of inflammatory response; positive regulation of immune response; cellular response to vitamin D; positive regulation of natural killer cell differentiation; positive regulation of natural killer cell proliferation; positive regulation of interleukin-17 production; response to nutrient levels; skeletal muscle atrophy; positive regulation of cell proliferation; aging; cell-cell signaling; signal transduction; immune response; NK T cell proliferation | 4q31 |
| IL15RA | cytokine-mediated signaling pathway; positive regulation of natural killer cell differentiation; cell proliferation; signal transduction | 10p15.1 |
| IL16 | induction of positive chemotaxis; interspecies interaction between organisms; leukocyte chemotaxis; immune response; chemotaxis; regulation of transcription, DNA-dependent | 15q26.3 |
| IL17B | inflammatory response; immune response; cell-cell signaling | 5q33.1 |
| IL17D | inflammatory response | 13q11 |
| IL17F | regulation of interleukin-6 biosynthetic process; regulation of interleukin-2 biosynthetic process; lymphotoxin A biosynthetic process; cytokine biosynthetic process; inflammatory response; proteoglycan metabolic process; negative regulation of angiogenesis; regulation of interleukin-8 biosynthetic process; regulation of granulocyte macrophage colony-stimulating factor biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; cartilage development; regulation of transforming growth factor beta receptor signaling pathway | 6p12 |
| IL17RA | cell surface receptor signaling pathway; positive regulation of interleukin-23 production; fibroblast activation | 22q11.1 |
| IL17RB | defense response; cytokine-mediated signaling pathway; regulation of cell growth | 3p21.1 |
| IL17RC | - | 3p25.3|3p25.3-p24.1 |
| IL17RD | - | 3p14.3 |
| IL17RE | - | 3p25.3 |
| IL17REL | - | 22q13.33 |
| IL18 | angiogenesis; MAPK cascade; lung development; positive regulation of superoxide anion generation; positive regulation of tumor necrosis factor production; positive regulation of interleukin-8 production; positive regulation of interleukin-17 production; positive regulation of interleukin-1 beta production; positive regulation of interferon-gamma production; positive regulation of granulocyte macrophage colony-stimulating factor production; positive regulation of chemokine production; lipopolysaccharide-mediated signaling pathway; sleep; positive regulation of natural killer cell proliferation; regulation of cell adhesion; positive regulation of gene expression; response to cold; response to radiation; cell-cell signaling; immune response; inflammatory response; response to hypoxia; osteoblast differentiation; positive regulation of inflammatory response; positive regulation of collagen biosynthetic process; positive regulation of tissue remodeling; chemokine biosynthetic process; T-helper 1 type immune respon | 11q22.2-q22.3 |
| IL18BP | cellular response to hydrogen peroxide; T-helper 1 type immune response; response to lipopolysaccharide; negative regulation of signal transduction; cellular response to tumor necrosis factor | 11q13 |
| IL18R1 | innate immune response; signal transduction; immune response | 2q12 |
| IL18RAP | cell surface receptor signaling pathway; signal transduction; immune response; innate immune response; inflammatory response | 2q12 |
| IL19 | apoptotic process; reactive oxygen species metabolic process; interleukin-6 biosynthetic process; signal transduction; immune response; induction of apoptosis | 1q32.2 |
| IL1A | positive regulation of cell division; fever generation; positive regulation of ERK1 and ERK2 cascade; regulation of sensory perception of pain; positive regulation of cytokine secretion; response to copper ion; positive regulation of JNK cascade; positive regulation of transcription from RNA polymerase II promoter; positive regulation of mitosis; positive regulation of angiogenesis; positive regulation of interleukin-2 biosynthetic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; wound healing; cellular response to heat; response to L-ascorbic acid; positive regulation of interleukin-6 production; response to lipopolysaccharide; cytokine-mediated signaling pathway; keratinization; response to hypoxia; apoptotic process; anti-apoptosis; inflammatory response; immune response; cell proliferation; response to ozone; response to organic nitrogen; response to gamma radiation; positive regulation vascular endothelial growth factor production; positive regulation of steroid biosynthetic process; re | 2q14 |
| IL1B | positive regulation of I-kappaB kinase/NF-kappaB cascade; response to morphine; negative regulation of MAP kinase activity; protein kinase B signaling cascade; positive regulation of JUN kinase activity; positive regulation of chemokine biosynthetic process; positive regulation of interleukin-2 biosynthetic process; positive regulation of interleukin-6 biosynthetic process; positive regulation of nitric oxide biosynthetic process; positive regulation of angiogenesis; negative regulation of lipid metabolic process; regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of apoptotic process; positive regulation of NF-kappaB import into nucleus; positive regulation of T cell proliferation; wound healing; cellular response to drug; positive regulation of myosin light chain kinase activity; social behavior; positive regulation of histone acetylation; positive regulation of heterotypic cell-cell adhesion; positive regulation of cell division; response to L-ascorbic acid; positive regulation of sequenc | 2q14 |
| IL1F10 | - | 2q13 |
| IL1R1 | innate immune response; interleukin-1-mediated signaling pathway; response to interleukin-1; response to nitric oxide; cell surface receptor signaling pathway; immune response; ovulation | 2q12 |
| IL1R2 | immune response | 2q12 |
| IL1RAP | protein complex assembly; inflammatory response; immune response; signal transduction; innate immune response | 3q28 |
| IL1RAPL1 | innate immune response; negative regulation of exocytosis; negative regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of neuron projection development; signal transduction | Xp22.1-p21.3 |
| IL1RAPL2 | signal transduction; central nervous system development; innate immune response | Xq22 |
| IL1RL1 | immune response; negative regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of macrophage activation; positive regulation of interleukin-5 production; negative regulation of interferon-gamma production; cytokine-mediated signaling pathway; innate immune response; negative regulation of T-helper 1 type immune response; signal transduction; positive regulation of inflammatory response; positive regulation of chemokine secretion | 2q12 |
| IL1RL2 | innate immune response; cellular defense response; signal transduction | 2q12 |
| IL1RN | negative regulation of interleukin-1-mediated signaling pathway; response to glucocorticoid stimulus; negative regulation of heterotypic cell-cell adhesion; acute-phase response; negative regulation of cytokine-mediated signaling pathway; immune response | 2q14.2 |
| IL2 | positive regulation of interleukin-17 production; positive regulation of tissue remodeling; T cell differentiation; positive regulation of activated T cell proliferation; positive regulation of phosphorylation; positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of regulatory T cell differentiation; negative regulation of heart contraction; positive regulation of transcription from RNA polymerase II promoter; regulation of T cell homeostatic proliferation; positive regulation of isotype switching to IgG isotypes; negative regulation of lymphocyte proliferation; negative regulation of inflammatory response; positive regulation of inflammatory response; positive regulation of immunoglobulin secretion; positive regulation of cell growth; positive regulation of B cell proliferation; negative regulation of protein phosphorylation; positive regulation of protein phosphorylation; negative regulation of B cell apoptosis; anti-apoptosis; immune response; elevation of cytosolic calcium | 4q26-q27 |
| IL20 | regulation of inflammatory response; positive regulation of epidermal cell differentiation; positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of keratinocyte differentiation | 1q32 |
| IL20RA | - | 6q23.3 |
| IL20RB | positive regulation of interleukin-4 production; positive regulation of interleukin-10 production; negative regulation of interleukin-2 production; negative regulation of interferon-gamma production; immune response-inhibiting signal transduction; inflammatory response to antigenic stimulus; negative regulation of type IV hypersensitivity; negative regulation of T cell proliferation; homeostasis of number of cells within a tissue; regulation of T cell activation | 3q22.3 |
| IL21 | positive regulation of natural killer cell cytokine production; positive regulation of tissue remodeling; positive regulation of inflammatory response; immune response; cell maturation; positive regulation of natural killer cell mediated cytotoxicity; positive regulation of interferon-gamma biosynthetic process; signal transduction; positive regulation of interleukin-10 production; positive regulation of interleukin-17 production; positive regulation of T cell proliferation; positive regulation of natural killer cell differentiation | 4q26-q27 |
| IL21-AS1 | - | 4q27 |
| IL21R | natural killer cell activation | 16p11 |
| IL22 | inflammatory response; cell-cell signaling; acute-phase response | 12q15 |
| IL22RA1 | - | 1p36.11 |
| IL22RA2 | regulation of tyrosine phosphorylation of Stat3 protein | 6q25.1 |
| IL23A | negative regulation of interleukin-10 production; positive regulation of T-helper 17 cell lineage commitment; positive regulation of NF-kappaB import into nucleus; positive regulation of defense response to virus by host; positive regulation of T-helper 1 type immune response; response to virus; positive regulation of activation of JAK2 kinase activity; positive regulation of granulocyte macrophage colony-stimulating factor production; positive regulation of interferon-gamma production; positive regulation of interleukin-10 production; positive regulation of interleukin-12 production; positive regulation of interleukin-17 production; positive regulation of tumor necrosis factor production; positive regulation of natural killer cell activation; positive regulation of natural killer cell proliferation; positive regulation of tissue remodeling; positive regulation of T cell proliferation; positive regulation of activated T cell proliferation; positive regulation of T cell mediated cytotoxicity; regulation of tyr | 12q13.3 |
| IL23R | positive regulation of interleukin-17 production; positive regulation of interleukin-12 production; positive regulation of interferon-gamma production; positive regulation of granulocyte macrophage colony-stimulating factor production; negative regulation of interleukin-10 production; response to lipopolysaccharide; positive regulation of activation of JAK2 kinase activity; positive regulation of natural killer cell proliferation; response to interferon-gamma; positive regulation of T cell proliferation; positive regulation of activated T cell proliferation; defense response to Gram-negative bacterium; regulation of tyrosine phosphorylation of Stat1 protein; positive regulation of T-helper 1 type immune response; positive regulation of defense response to virus by host; positive regulation of T cell mediated cytotoxicity; positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of tyrosine phosphorylation of Stat4 protein; positive regulation of osteoclast differentiation; positiv | 1p31.3 |
| IL24 | apoptotic process | 1q32 |
| IL25 | inflammatory response to antigenic stimulus; response to fungus; response to nematode; eosinophil differentiation | 14q11.2 |
| IL26 | positive regulation of JAK-STAT cascade; positive regulation of ERK1 and ERK2 cascade; positive regulation of protein kinase B signaling cascade; positive regulation of cytokine secretion; negative regulation of epithelial cell proliferation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of stress-activated MAPK cascade; cell-cell signaling | 12q15 |
| IL27 | innate immune response; regulation of defense response to virus; regulation of T-helper 1 cell differentiation; positive regulation of interferon-gamma biosynthetic process; regulation of T cell proliferation; response to bacterium; inflammatory response | 16p11 |
| IL27RA | positive regulation of T-helper 1 type immune response; negative regulation of type 2 immune response; immune response; cell surface receptor signaling pathway; positive regulation of interferon-gamma production; regulation of isotype switching to IgG isotypes; defense response to Gram-positive bacterium | 19p13.11 |
| IL2RA | positive regulation of activated T cell proliferation; negative regulation of immune response; negative regulation of inflammatory response; negative regulation of defense response to virus; regulation of T cell homeostatic proliferation; positive regulation of T cell differentiation; positive regulation of apoptotic process; negative regulation of T cell proliferation; cytokine-mediated signaling pathway; cell proliferation; cell surface receptor signaling pathway; immune response; activation-induced cell death of T cells; apoptotic process; inflammatory response to antigenic stimulus | 10p15-p14 |
| IL2RB | protein complex assembly; signal transduction; cytokine-mediated signaling pathway; interspecies interaction between organisms; positive regulation of survival gene product expression | 22q13.1 |
| IL2RG | interspecies interaction between organisms; interleukin-4-mediated signaling pathway; immune response; signal transduction | Xq13.1 |
| IL31 | - | 12q24.31 |
| IL31RA | defense response; anti-apoptosis; MAPK cascade; homeostatic process; positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of transcription, DNA-dependent; negative regulation of macrophage activation; transmembrane receptor protein tyrosine kinase signaling pathway; macrophage differentiation; monocyte differentiation; cytokine-mediated signaling pathway; positive regulation of cell proliferation; JAK-STAT cascade; positive regulation of tyrosine phosphorylation of Stat3 protein | 5q11.2 |
| IL32 | defense response; immune response; cell adhesion | 16p13.3 |
| IL33 | positive regulation of immunoglobulin secretion; positive regulation of interleukin-13 production; positive regulation of interleukin-4 production; negative regulation of interferon-gamma production; positive regulation of interleukin-5 production; positive regulation of interleukin-6 production; positive regulation of gene expression; positive regulation of macrophage activation; positive regulation of type 2 immune response; positive regulation of transcription from RNA polymerase II promoter; positive regulation of inflammatory response; positive regulation of chemokine secretion; negative regulation of T-helper 1 type immune response; negative regulation of leukocyte migration; negative regulation of immunoglobulin secretion | 9p24.1 |
| IL34 | innate immune response; positive regulation of cell proliferation; inflammatory response; positive regulation of protein phosphorylation | 16q22.1 |
| IL36A | inflammatory response; immune response | 2q12-q14.1 |
| IL36G | cell-cell signaling | 2q12-q21 |
| IL36RN | negative regulation of cytokine-mediated signaling pathway | 2q14 |
| IL37 | immune response | 2q12-q14.1 |
| IL3RA | cellular response to interleukin-3 | Xp22.3 or Yp11.3 |
| IL4 | positive regulation of tyrosine phosphorylation of Stat5 protein; response to drug; regulation of phosphorylation; positive regulation of activated T cell proliferation; positive regulation of T cell proliferation; type 2 immune response; T-helper 2 cell cytokine production; response to cytokine stimulus; positive regulation of interleukin-13 production; positive regulation of interleukin-10 production; positive regulation of B cell proliferation; B cell differentiation; response to organic cyclic compound; regulation of proton transport; positive regulation of cell proliferation; cholesterol metabolic process; response to nutrient; female pregnancy; cellular defense response; immune response; chemotaxis; negative regulation of chronic inflammatory response; negative regulation of acute inflammatory response; innate immune response in mucosa; negative regulation of apoptotic process; negative regulation of macrophage activation; regulation of inflammatory response; positive regulation of peptidyl-tyrosine pho | 5q31.1 |
| IL4I1 | - | 19q13.3-q13.4 |
| IL4R | signal transduction; production of molecular mediator involved in inflammatory response; positive regulation of chemokine secretion; positive regulation of T-helper 2 cell differentiation; negative regulation of T-helper 1 cell differentiation; response to estrogen stimulus; immune response; positive regulation of macrophage activation; regulation of cell proliferation; interleukin-4-mediated signaling pathway; ovulation | 16p12.1-p11.2 |
| IL5 | inflammatory response; immune response; positive regulation of cell proliferation; cytokine-mediated signaling pathway; positive regulation of B cell proliferation; positive regulation of eosinophil differentiation; positive regulation of transcription, DNA-dependent; positive regulation of JAK-STAT cascade; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of immunoglobulin secretion; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of podosome assembly | 5q31.1 |
| IL5RA | interleukin-5-mediated signaling pathway; cell proliferation; signal transduction | 3p26-p24 |
| IL6 | cell redox homeostasis; regulation of angiogenesis; positive regulation of DNA replication; positive regulation of translation; negative regulation of gluconeogenesis; positive regulation of osteoblast differentiation; positive regulation of neuron differentiation; positive regulation of T-helper 2 cell differentiation; negative regulation of fat cell differentiation; positive regulation of nitric oxide biosynthetic process; regulation of circadian sleep/wake cycle, non-REM sleep; negative regulation of chemokine biosynthetic process; neuroprotection; positive regulation of MAPK cascade; positive regulation of B cell activation; response to amino acid stimulus; positive regulation of anti-apoptosis; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of JAK-STAT cascade; response to antibiotic; muscle cell homeostasis; bone remodeling; negative regulation of hormone secretion; negative regulation of muscle organ develop | 7p21 |
| IL6R | positive regulation of JAK-STAT cascade; positive regulation of smooth muscle cell proliferation; positive regulation of peptidyl-tyrosine phosphorylation; defense response to Gram-negative bacterium; defense response to Gram-positive bacterium; positive regulation of NF-kappaB transcription factor activity; response to glucocorticoid stimulus; response to cytokine stimulus; response to cAMP; interleukin-6-mediated signaling pathway; ciliary neurotrophic factor-mediated signaling pathway; positive regulation of osteoblast differentiation; hepatic immune response; neutrophil mediated immunity; monocyte chemotaxis; positive regulation of leukocyte chemotaxis; acute-phase response; positive regulation of cell proliferation; response to gamma radiation; positive regulation of activation of Janus kinase activity; cell growth; cytokine-mediated signaling pathway; endocrine pancreas development; response to lipopolysaccharide; negative regulation of interleukin-8 production; positive regulation of chemokine producti | 1q21 |
| IL6ST | interleukin-27-mediated signaling pathway; positive regulation of adaptive immune response; negative regulation of interleukin-6-mediated signaling pathway; ciliary neurotrophic factor-mediated signaling pathway; interleukin-6-mediated signaling pathway; reduction of cytosolic calcium ion concentration; leukemia inhibitory factor signaling pathway; positive regulation of anti-apoptosis; positive regulation of osteoblast differentiation; positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of tyrosine phosphorylation of Stat1 protein; positive regulation of T cell proliferation; response to cytokine stimulus; cytokine-mediated signaling pathway; positive regulation of smooth muscle cell migration; positive regulation of cardiac muscle hypertrophy; positive regulation vascular endothelial growth factor production; positive regulation of cell proliferation; response to nutrient; positive regulation of acute inflammatory response; triglyceride mobilization; JAK-STAT cascade | 5q11.2 |
| IL6STP1 | - | 17p11 |
| IL7 | positive regulation of organ growth; positive regulation of B cell proliferation; negative regulation of apoptotic process; negative regulation of catalytic activity; bone resorption; positive regulation of T cell differentiation; organ morphogenesis; homeostasis of number of cells within a tissue; negative regulation of cell growth; regulation of gene expression; T cell lineage commitment; anti-apoptosis; immune response; humoral immune response; cell-cell signaling; positive regulation of cell proliferation | 8q12-q13 |
| IL7R | lymph node development; regulation of DNA recombination; cell growth; positive regulation of gene expression; regulation of cell size; cell surface receptor signaling pathway; signal transduction; immune response; immunoglobulin production; negative regulation of T cell mediated cytotoxicity; cell morphogenesis; T cell differentiation; positive regulation of T cell differentiation in thymus; B cell proliferation; homeostasis of number of cells | 5p13 |
| IL9 | inflammatory response; immune response; positive regulation of cell proliferation; positive regulation of cell growth; positive regulation of interleukin-5 biosynthetic process | 5q31.1 |
| IL9R | cell proliferation; signal transduction | Xq28 and Yq12 |
| IL9RP2 | - | 10p15.3 |
| IL9RP3 | - | 16p13.3 |
| IL9RP4 | - | 18p11.32 |
| ILDR1 | - | 3q13.33 |
| ILDR2 | cell differentiation; homeostasis of number of cells within a tissue; response to glucose stimulus; insulin secretion; pancreas development | 1q24.1 |
| ILF2 | transcription, DNA-dependent; immune response; positive regulation of transcription, DNA-dependent | 1q21.3 |
| ILF2P1 | - | - |
| ILF2P2 | - | 14q13.2 |
| ILF3 | positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; M phase | 19p13.2 |
| ILF3-AS1 | - | 19p13.2 |
| ILK | cell cycle arrest; negative regulation of smooth muscle cell migration; negative regulation of protein kinase activity; protein phosphorylation; positive regulation of cell-matrix adhesion; branching involved in ureteric bud morphogenesis; regulation of cell growth; integrin-mediated signaling pathway; cell aging; cell proliferation; positive regulation of cell proliferation; regulation of signal transduction; negative regulation of cardiac muscle cell apoptosis; cell-matrix adhesion; peptidyl-serine phosphorylation; positive regulation of BMP signaling pathway; positive regulation of cell migration; positive regulation of canonical Wnt receptor signaling pathway; positive regulation of protein kinase B signaling cascade; protein heterooligomerization; positive regulation of dendrite morphogenesis; neuron projection morphogenesis; negative regulation of smooth muscle cell proliferation; positive regulation of transcription, DNA-dependent; positive regulation of axon extension; positive regulation of osteoblas | 11p15.4 |
| ILKAP | regulation of S phase of mitotic cell cycle; protein dephosphorylation; negative regulation of cell cycle | 2q37.3 |
| ILVBL | - | 19p13.1 |
| IMMP1L | proteolysis | 11p13 |
| IMMP2L | ovarian follicle development; ovulation; spermatogenesis; protein processing involved in protein targeting to mitochondrion; proteolysis | 7q31 |
| IMMT | - | 2p11.2|2 |
| IMMTP1 | - | 21q22.3 |
| IMP3 | rRNA processing | 15q24 |
| IMP4 | rRNA processing | 2q21.1 |
| IMPA1 | inositol phosphate dephosphorylation; phosphatidylinositol phosphorylation; response to lithium ion; phosphate-containing compound metabolic process; phosphatidylinositol biosynthetic process; signal transduction | 8q21.13-q21.3 |
| IMPA1P | - | 8q21.13 |
| IMPA2 | phosphate-containing compound metabolic process; signal transduction; phosphatidylinositol phosphorylation; inositol phosphate dephosphorylation | 18p11.2 |
| IMPACT | negative regulation of protein phosphorylation; regulation of translational initiation | 18q11.2-q12.1 |
| IMPAD1 | post-embryonic development; dephosphorylation; chondroitin sulfate metabolic process; embryonic digit morphogenesis; phosphatidylinositol phosphorylation; skeletal system development; endochondral ossification; chondrocyte development | 8q12.1 |
| IMPDH1 | purine nucleotide biosynthetic process; nucleobase-containing small molecule metabolic process; lymphocyte proliferation; small molecule metabolic process; purine ribonucleoside monophosphate biosynthetic process; GMP biosynthetic process; purine base metabolic process | 7q31.3-q32 |
| IMPDH1P10 | - | - |
| IMPDH1P11 | - | 16p13.2 |
| IMPDH1P4 | - | Xp11.3 |
| IMPDH1P6 | - | 8q24.13 |
| IMPDH1P8 | - | 3p25.1 |
| IMPDH2 | nucleobase-containing small molecule metabolic process; lymphocyte proliferation; small molecule metabolic process; GMP biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; purine base metabolic process; purine nucleotide biosynthetic process | 3p21.2 |
| IMPG2 | visual perception | 3q12.2-q12.3 |
| INA | tissue regeneration; cell differentiation; nervous system development; multicellular organismal development | 10q24.33 |
| INADL | cell junction assembly; intracellular signal transduction; cell-cell junction organization; tight junction assembly | 1p31.3 |
| INAFM1 | - | 19q13.32 |
| INCA1 | - | 17p13.2 |
| INCENP | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; cytokinesis; chromosome segregation | 11q12.3 |
| INE1 | - | Xp11.4-p11.3 |
| INF2 | cellular component organization; actin cytoskeleton organization | 14q32.33 |
| ING1 | regulation of cell death; positive regulation of transcription, DNA-dependent; negative regulation of cell growth; negative regulation of cell proliferation; cell cycle; protein import into nucleus | 13q34 |
| ING2 | regulation of response to DNA damage stimulus; regulation of cellular senescence; seminiferous tubule development; male germ-line stem cell division; positive regulation of transcription, DNA-dependent; negative regulation of apoptotic process; regulation of growth; sperm motility; positive regulation of transforming growth factor beta receptor signaling pathway; regulation of transcription, DNA-dependent; male meiosis I; signal transduction; spermatogenesis; spermatid development; chromatin modification | 4q35.1 |
| ING3 | regulation of transcription, DNA-dependent; chromatin modification; regulation of growth; positive regulation of apoptotic process; histone H4 acetylation; histone H2A acetylation | 7q31 |
| ING4 | negative regulation of cell proliferation; histone H3 acetylation; histone H4-K5 acetylation; positive regulation of apoptotic process; histone H4-K8 acetylation; histone H4-K12 acetylation; DNA replication; histone H4-K16 acetylation; negative regulation of transcription, DNA-dependent; negative regulation of growth; cell cycle arrest; cell cycle; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; apoptotic process; protein acetylation; chromatin modification | 12p13.31 |
| ING5 | negative regulation of growth; negative regulation of cell proliferation; protein acetylation; chromatin modification; positive regulation of transcription, DNA-dependent; DNA replication; histone H3 acetylation | 2q37.3 |
| INGX | - | Xq12 |
| INHA | negative regulation of macrophage differentiation; negative regulation of B cell differentiation; negative regulation of interferon-gamma biosynthetic process; hemoglobin biosynthetic process; negative regulation of phosphorylation; regulation of cell proliferation; erythrocyte differentiation; cell differentiation; response to external stimulus; male gonad development; nervous system development; cell-cell signaling; cell surface receptor signaling pathway; signal transduction; cell cycle arrest; induction of apoptosis; ovarian follicle development; skeletal system development; positive regulation of follicle-stimulating hormone secretion; negative regulation of cell cycle; regulation of cell cycle; negative regulation of follicle-stimulating hormone secretion | 2q33-q36 |
| INHBA | hemoglobin biosynthetic process; G1/S transition of mitotic cell cycle; progesterone secretion; negative regulation of interferon-gamma biosynthetic process; negative regulation of B cell differentiation; positive regulation of erythrocyte differentiation; negative regulation of macrophage differentiation; negative regulation of cell cycle; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; regulation of follicle-stimulating hormone secretion; positive regulation of follicle-stimulating hormone secretion; negative regulation of follicle-stimulating hormone secretion; mesodermal cell differentiation; palate development; positive regulation of ovulation; eyelid development in camera-type eye; cellular response to follicle-stimulating hormone stimulus; cellular response to cholesterol; negative regulation of phosphorylation; ovarian follicle development; hair follicle development; hemopoietic progenitor cell differentiation; regulation of tr | 7p15-p13 |
| INHBA-AS1 | - | 7p14.1 |
| INHBB | cellular response to leptin stimulus; fat cell differentiation; negative regulation of insulin secretion; positive regulation of follicle-stimulating hormone secretion; negative regulation of follicle-stimulating hormone secretion; negative regulation of hepatocyte growth factor biosynthetic process; oocyte development; positive regulation of ovulation; cellular response to cholesterol; growth; activin receptor signaling pathway; cellular response to insulin stimulus; cell differentiation; response to external stimulus; cellular response to starvation; defense response; ovarian follicle development; regulation of apoptotic process | 2cen-q13 |
| INHBC | growth | 12q13.1 |
| INHBE | growth | 12q13.3 |
| INIP | - | 9q32 |
| INMT | - | 7p14.3 |
| INO80 | cell division; spindle assembly; UV-damage excision repair; cellular response to UV; positive regulation of transcription from RNA polymerase II promoter; DNA duplex unwinding; positive regulation of cell growth; positive regulation of DNA replication involved in S phase; cell cycle; chromatin remodeling; DNA recombination; cellular response to ionizing radiation; regulation of G1/S transition of mitotic cell cycle; double-strand break repair; ATP catabolic process; double-strand break repair via homologous recombination; mitotic sister chromatid segregation | 15q15.1 |
| INO80B | regulation of transcription, DNA-dependent; DNA recombination; DNA repair | 2p13.1 |
| INO80C | DNA recombination; DNA repair; regulation of transcription, DNA-dependent | 18q12.2 |
| INO80D | regulation of transcription, DNA-dependent; DNA repair; DNA recombination | 2q33.3 |
| INO80E | DNA repair; DNA recombination; regulation of transcription, DNA-dependent | 16p11.2 |
| INPP1 | phosphate-containing compound metabolic process; signal transduction; phosphatidylinositol phosphorylation | 2q32 |
| INPP4A | signal transduction | 2q11.2 |
| INPP4B | phosphatidylinositol-3-phosphate biosynthetic process; signal transduction | 4q31.21 |
| INPP5A | cell communication; phosphatidylinositol phosphorylation | 10q26.3 |
| INPP5B | signal transduction; regulation of small GTPase mediated signal transduction; phosphatidylinositol dephosphorylation; phosphatidylinositol phosphorylation; small GTPase mediated signal transduction | 1p34 |
| INPP5D | leukocyte migration; T cell receptor signaling pathway; negative regulation of immune response; phosphatidylinositol phosphorylation; negative regulation of bone resorption; negative regulation of signal transduction; negative regulation of osteoclast differentiation; negative regulation of neutrophil differentiation; negative regulation of monocyte differentiation; positive regulation of erythrocyte differentiation; positive regulation of B cell differentiation; positive regulation of apoptotic process; phosphate-containing compound metabolic process; signal transduction; blood coagulation; negative regulation of cell proliferation; determination of adult lifespan; immunoglobulin mediated immune response; dephosphorylation; negative regulation of B cell proliferation; intracellular signal transduction; negative regulation of interleukin-6 biosynthetic process | 2q37.1 |
| INPP5E | dephosphorylation; phosphatidylinositol phosphorylation; positive regulation of neuron projection development; lipid metabolic process | 9q34.3 |
| INPP5F | - | 10q26.11 |
| INPP5J | phosphatidylinositol phosphorylation | 22q12.2 |
| INPP5K | negative regulation of protein phosphorylation; regulation of glycogen biosynthetic process; negative regulation of protein kinase activity; G-protein coupled receptor signaling pathway; negative regulation of peptidyl-threonine phosphorylation; in utero embryonic development; negative regulation of insulin receptor signaling pathway; positive regulation of renal water transport; negative regulation of glycogen (starch) synthase activity; ruffle assembly; negative regulation of protein targeting to membrane; protein targeting to plasma membrane; cellular response to epidermal growth factor stimulus; cellular response to tumor necrosis factor; cellular response to cAMP; negative regulation of calcium ion transport; negative regulation of protein kinase B signaling cascade; negative regulation of stress fiber assembly; phosphatidylinositol dephosphorylation; inositol phosphate dephosphorylation; phosphatidylinositol phosphorylation; negative regulation of glucose transport; positive regulation of transcription, | 17p13.3 |
| INPPL1 | negative regulation of platelet-derived growth factor receptor signaling pathway; negative regulation of neuron projection development; negative regulation of insulin receptor signaling pathway; response to insulin stimulus; inositol trisphosphate metabolic process; response to drug; negative regulation of MAP kinase activity; negative regulation of insulin-like growth factor receptor signaling pathway; phosphatidylinositol phosphorylation; cellular lipid metabolic process; glucose metabolic process; endocytosis; actin filament organization; cell adhesion; brain development; negative regulation of DNA replication; negative regulation of cell proliferation; post-embryonic development; negative regulation of gene expression | 11q13 |
| INS | negative regulation of apoptotic process; positive regulation of protein autophosphorylation; activation of protein kinase B activity; positive regulation of cellular protein metabolic process; regulation of protein localization; negative regulation of NAD(P)H oxidase activity; wound healing; negative regulation of protein catabolic process; glucose homeostasis; endocrine pancreas development; positive regulation of MAPK cascade; small molecule metabolic process; positive regulation of nitric oxide biosynthetic process; positive regulation of cell differentiation; negative regulation of gluconeogenesis; positive regulation of glycogen biosynthetic process; positive regulation of DNA replication; negative regulation of glycogen catabolic process; G-protein coupled receptor signaling pathway; MAPK cascade; negative regulation of acute inflammatory response; carbohydrate metabolic process; glucose metabolic process; energy reserve metabolic process; regulation of transcription, DNA-dependent; regulation of cellu | 11p15.5 |
| INSC | establishment of mitotic spindle orientation; multicellular organismal development; lung epithelial cell differentiation; cell differentiation; nervous system development | 11p15.2 |
| INSIG1 | steroid metabolic process; cranial suture morphogenesis; palate development; negative regulation of fatty acid biosynthetic process; negative regulation of fat cell differentiation; middle ear morphogenesis; inner ear morphogenesis; ER-nuclear sterol response pathway; negative regulation of steroid biosynthetic process; cell proliferation; metabolic process; response to sterol depletion; cholesterol biosynthetic process; triglyceride metabolic process | 7q36 |
| INSIG2 | palate development; negative regulation of fatty acid biosynthetic process; middle ear morphogenesis; inner ear morphogenesis; response to insulin stimulus; ER-nuclear sterol response pathway; triglyceride metabolic process; cholesterol biosynthetic process; response to sterol depletion; negative regulation of steroid biosynthetic process; cranial suture morphogenesis; response to fatty acid; steroid metabolic process | 2q14.2 |
| INSL3 | cell-cell signaling; oocyte maturation; inhibition of adenylate cyclase activity by G-protein signaling pathway; spermatogenesis; positive regulation of cell proliferation; negative regulation of cell proliferation; male gonad development; positive regulation of cAMP biosynthetic process; negative regulation of apoptotic process; in utero embryonic development | 19p13.2-p12 |
| INSL4 | signal transduction; cell proliferation; female pregnancy; multicellular organismal development; cell-cell signaling | 9p24 |
| INSL5 | - | 1p31.3 |
| INSM1 | regulation of transcription, DNA-dependent; cell differentiation; endocrine pancreas development | 20p11.2 |
| INSM2 | regulation of transcription, DNA-dependent | 14q13.2 |
| INSR | G-protein coupled receptor signaling pathway; glucose homeostasis; positive regulation of phosphorylation; activation of MAPK activity; negative regulation of protein phosphorylation; positive regulation of protein phosphorylation; heart morphogenesis; carbohydrate metabolic process; regulation of transcription, DNA-dependent; positive regulation of MAPK cascade; positive regulation of glucose import; regulation of embryonic development; positive regulation of cell proliferation; positive regulation of mitosis; positive regulation of glycolysis; positive regulation of DNA replication; positive regulation of glycogen biosynthetic process; response to ethanol; fat cell differentiation; positive regulation of nitric oxide biosynthetic process; protein autophosphorylation; signal transduction by phosphorylation; transformation of host cell by virus; peptidyl-tyrosine phosphorylation; response to activity; negative regulation of gene expression; positive regulation of glycoprotein biosynthetic process; regulation | 19p13.3-p13.2 |
| INSRR | cellular response to alkalinity; protein autophosphorylation; actin cytoskeleton reorganization; male sex determination; transmembrane receptor protein tyrosine kinase signaling pathway | 1q21-q23 |
| INTS1 | U2 snRNA 3'-end processing; inner cell mass cell proliferation; snRNA processing; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process | 7p22.3 |
| INTS10 | snRNA processing | 8p21.3 |
| INTS12 | snRNA processing | 4q24 |
| INTS2 | snRNA processing | 17q23.2 |
| INTS3 | response to DNA damage stimulus; response to ionizing radiation; snRNA processing; DNA repair; G2/M transition checkpoint | 1q21.3 |
| INTS4 | snRNA processing | 11q14.1 |
| INTS4P2 | - | 7q11.21 |
| INTS5 | snRNA processing | 11q12.3 |
| INTS6 | snRNA processing | 13q14.3 |
| INTS6-AS1 | - | - |
| INTS6P1 | - | 5p13.1 |
| INTS7 | DNA damage checkpoint; snRNA processing; cellular response to ionizing radiation | 1q32.3 |
| INTS8 | snRNA processing | 8q22.1 |
| INTS9 | snRNA processing | 8p21.1 |
| INTU | limb development; cilium assembly; regulation of smoothened signaling pathway; nervous system development | 4q28.1 |
| INVS | kidney development; embryonic heart tube left/right pattern formation; post-embryonic development; negative regulation of canonical Wnt receptor signaling pathway; pancreas development; Wnt receptor signaling pathway | 9q31 |
| IP6K1 | phosphatidylinositol phosphorylation | 3p21.31 |
| IP6K2 | positive regulation of apoptotic process; negative regulation of cell growth; cytokine-mediated signaling pathway; phosphatidylinositol phosphorylation; type I interferon-mediated signaling pathway | 3p21.31 |
| IP6K3 | protein phosphorylation; inositol phosphate biosynthetic process; phosphatidylinositol metabolic process | 6p21.31 |
| IPCEF1 | response to oxidative stress; oxygen transport; positive regulation of GTP catabolic process | 6q25.2 |
| IPMK | neural tube formation | 10q21.1 |
| IPO11 | intracellular protein transport | 5q12.1 |
| IPO13 | protein import into nucleus; intracellular protein transport | 1p34.1 |
| IPO4 | protein transport; intracellular protein transport | 14q12 |
| IPO5 | interspecies interaction between organisms; NLS-bearing substrate import into nucleus; ribosomal protein import into nucleus; intracellular protein transport | 13q32.2 |
| IPO7 | intracellular protein transport; transport; protein import into nucleus; signal transduction; interspecies interaction between organisms | 11p15.4 |
| IPO7P2 | - | 13q12.12 |
| IPO8 | signal transduction; intracellular protein transport | 12p11.21 |
| IPO8P1 | - | - |
| IPO9 | protein import into nucleus; intracellular protein transport; protein transport | 1q32.1 |
| IPO9-AS1 | - | - |
| IPP | - | 1p34-p32 |
| IPPK | inositol phosphorylation | 9q22.31 |
| IPW | - | 15q11-q12 |
| IQCA1 | - | 2q37.3 |
| IQCA1P1 | - | 7q36.1 |
| IQCB1 | maintenance of organ identity; photoreceptor cell maintenance; cilium assembly | 3q13.33|3q21.1 |
| IQCB2P | - | 6p22.1 |
| IQCC | - | 1p36.11-p34.2 |
| IQCD | - | 12q24.13 |
| IQCE | - | 7p22.3 |
| IQCF1 | - | 3p21.2 |
| IQCF3 | - | 3p21.2 |
| IQCG | - | 3q29 |
| IQCH | - | 15q23 |
| IQCH-AS1 | - | 15q23 |
| IQCJ | - | 3q25.32 |
| IQCJ-SCHIP1-AS1 | - | - |
| IQCK | - | 16p12.3 |
| IQGAP1 | small molecule metabolic process; regulation of insulin secretion; regulation of small GTPase mediated signal transduction; positive regulation of GTPase activity; signal transduction; energy reserve metabolic process; glomerular visceral epithelial cell development | 15q26.1 |
| IQGAP2 | signal transduction; regulation of small GTPase mediated signal transduction | 5q13.3 |
| IQGAP3 | Ras protein signal transduction; positive regulation of protein phosphorylation; activation of MAPK activity; negative regulation of gene expression; signal transduction; positive regulation of mammary gland epithelial cell proliferation; G1/S transition of mitotic cell cycle; regulation of small GTPase mediated signal transduction; ERK1 and ERK2 cascade; cellular response to organic substance; positive regulation of gene expression; regulation of cell size | 1q21.3 |
| IQSEC1 | regulation of ARF protein signal transduction | 3p25.2 |
| IQSEC2 | regulation of ARF protein signal transduction | Xp11.22 |
| IQSEC3 | regulation of ARF protein signal transduction | 12p13.33 |
| IQUB | - | 7q31.32 |
| IRAK1 | NIK/NF-kappaB cascade; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; protein phosphorylation; anti-apoptosis; JNK cascade; signal transduction; transmembrane receptor protein serine/threonine kinase signaling pathway; protein autophosphorylation; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; innate immune response; positive regulation of JUN kinase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of NF-kappaB transcription factor activity; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; Toll signaling pathway; protein ubiquitination; lipopolysaccharide-mediated signaling pathway; activation of NF-kappaB-inducing kinase activity; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like rec | Xq28 |
| IRAK1BP1 | I-kappaB kinase/NF-kappaB cascade; regulation of transcription, DNA-dependent | 6q14-q15 |
| IRAK2 | activation of MAPK activity; regulation of cytokine-mediated signaling pathway; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; protein phosphorylation; inflammatory response; JNK cascade; signal transduction; Toll signaling pathway; response to interleukin-1; interleukin-1-mediated signaling pathway; nucleotide-binding oligomerization domain containing signaling pathway; stress-activated MAPK cascade; positive regulation of NF-kappaB transcription factor activity; innate immune response; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; negative regulation of NF-kappaB transcription factor activity; lipopolysaccharide-mediated signaling pathway; I-kappaB kinase/NF-k | 3p25.3 |
| IRAK3 | negative regulation of protein complex disassembly; negative regulation of interleukin-6 production; response to exogenous dsRNA; regulation of protein complex disassembly; protein phosphorylation; signal transduction; response to virus; positive regulation of macrophage tolerance induction; negative regulation of macrophage cytokine production; negative regulation of protein catabolic process; cytokine-mediated signaling pathway; negative regulation of NF-kappaB transcription factor activity; response to peptidoglycan; negative regulation of toll-like receptor signaling pathway; negative regulation of tumor necrosis factor production; response to lipopolysaccharide; negative regulation of interleukin-12 production; negative regulation of cytokine-mediated signaling pathway; response to interleukin-1; interleukin-1-mediated signaling pathway; MyD88-dependent toll-like receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; protein autophosphorylation; negative regulation of | 12q14.3 |
| IRAK4 | positive regulation of smooth muscle cell proliferation; positive regulation of transcription from RNA polymerase II promoter; innate immune response; signal transduction; Toll signaling pathway; cytokine-mediated signaling pathway; toll-like receptor 1 signaling pathway; JNK cascade; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; cytokine production; toll-like receptor 2 signaling pathway; toll-like receptor 4 signaling pathway; protein phosphorylation | 12q12 |
| IREB2 | osteoclast differentiation; intestinal absorption; erythrocyte homeostasis; regulation of gene expression; post-embryonic development; metabolic process; cellular iron ion homeostasis; iron ion transport; protoporphyrinogen IX biosynthetic process; regulation of translation | 15q25.1 |
| IRF1 | type I interferon-mediated signaling pathway; transcription from RNA polymerase II promoter; cellular response to peptide hormone stimulus; cellular response to dsRNA; cellular response to tumor necrosis factor; cellular response to interleukin-1; cellular response to retinoic acid; cellular response to mechanical stimulus; response to growth hormone stimulus; interferon-gamma-mediated signaling pathway; positive regulation of transcription from RNA polymerase II promoter; CD8-positive, alpha-beta T cell differentiation; negative regulation of tyrosine phosphorylation of Stat1 protein; cytokine-mediated signaling pathway; positive regulation of cell death; response to heat; blood coagulation; female pregnancy; I-kappaB kinase/NF-kappaB cascade; positive regulation of interleukin-12 biosynthetic process | 5q31.1 |
| IRF2 | blood coagulation; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; cytokine-mediated signaling pathway; cell proliferation; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 4q34.1-q35.1 |
| IRF2BP1 | regulation of transcription, DNA-dependent | 19q13.32 |
| IRF2BP2 | regulation of transcription, DNA-dependent | 1q42.3 |
| IRF2BPL | - | 14q24.3 |
| IRF3 | response to exogenous dsRNA; negative regulation of transcription from RNA polymerase II promoter; MyD88-independent toll-like receptor signaling pathway; transcription from RNA polymerase II promoter; Toll signaling pathway; response to virus; response to bacterium; cytokine-mediated signaling pathway; lipopolysaccharide-mediated signaling pathway; response to lipopolysaccharide; negative regulation of type I interferon production; cellular response to dsRNA; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; positive regulation of cytokine secretion; negative regulation of defense response to virus by host; negative regulation of interferon-beta biosynthetic process; type I interferon biosynthetic process; innate immune response; interspecies interaction between organisms; positive regulation of I-kappaB kinase/NF-kappaB cascade; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway | 19q13.3-q13.4 |
| IRF4 | regulation of transcription, DNA-dependent; cytokine-mediated signaling pathway; histone H4 acetylation; T cell activation; myeloid dendritic cell differentiation; positive regulation of DNA binding; histone H3 acetylation; positive regulation of interleukin-10 biosynthetic process; positive regulation of interleukin-2 biosynthetic process; positive regulation of interleukin-13 biosynthetic process; positive regulation of interleukin-4 biosynthetic process; regulation of T-helper cell differentiation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway | 6p25-p23 |
| IRF5 | cytokine-mediated signaling pathway; interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway | 7q32 |
| IRF5P1 | - | - |
| IRF6 | mammary gland epithelial cell differentiation; cell cycle arrest; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; cell development; positive regulation of transcription, DNA-dependent; keratinocyte proliferation; skin development; keratinocyte differentiation; cytokine-mediated signaling pathway; negative regulation of cell proliferation | 1q32.3-q41 |
| IRF7 | TRIF-dependent toll-like receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; MyD88-independent toll-like receptor signaling pathway; transcription from RNA polymerase II promoter; Toll signaling pathway; response to virus; cytokine-mediated signaling pathway; positive regulation of interferon-alpha production; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; interspecies interaction between organisms; innate immune response; positive regulation of transcription from RNA polymerase II promoter; interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway | 11p15.5 |
| IRF8 | type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; positive regulation of transcription, DNA-dependent; negative regulation of growth of symbiont in host; defense response to protozoan; defense response to bacterium; positive regulation of interleukin-12 production; positive regulation of interferon-gamma production; myeloid cell differentiation; cytokine-mediated signaling pathway; immune response; phagocytosis; negative regulation of transcription from RNA polymerase II promoter; cellular response to lipopolysaccharide | 16q24.1 |
| IRF9 | regulation of transcription, DNA-dependent; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; type I interferon biosynthetic process; cytokine-mediated signaling pathway; response to virus; cell surface receptor signaling pathway; transcription from RNA polymerase II promoter | 14q11.2 |
| IRG1 | propionate catabolic process | 13q22.3 |
| IRGC | - | 19q13.31 |
| IRGM | autophagy; inflammatory response; innate immune response | 5q33.1 |
| IRGQ | - | 19q13.31 |
| IRS1 | cellular response to insulin stimulus; positive regulation of phosphorylation; protein localization to nucleus; response to insulin stimulus; positive regulation of fatty acid beta-oxidation; mammary gland development; positive regulation of cell migration; lipid catabolic process; phosphatidylinositol 3-kinase cascade; positive regulation of glucose metabolic process; regulation of gene expression; insulin receptor signaling pathway; positive regulation of cell proliferation; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; positive regulation of mesenchymal cell proliferation; negative regulation of insulin receptor signaling pathway; glucose homeostasis; response to peptide hormone stimulus; protein kinase B signaling cascade; positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of glycogen biosynthetic process; positive regulation of glucose import; negative regulation of somatostatin secretion; positive regulation of glucagon secretion; | 2q36 |
| IRS2 | regulation of lipid metabolic process; JAK-STAT cascade involved in growth hormone signaling pathway; positive regulation of cell migration; lipid homeostasis; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; positive regulation of glucose import; positive regulation of glycogen biosynthetic process; negative regulation of kinase activity; cellular response to insulin stimulus; positive regulation of insulin secretion; positive regulation of fatty acid beta-oxidation; positive regulation of B cell proliferation; mammary gland development; negative regulation of plasma membrane long-chain fatty acid transport; positive regulation of mesenchymal cell proliferation; negative regulation of B cell apoptosis; glucose metabolic process; signal transduction; brain development; positive regulation of cell proliferation; positive regulation of glucose metabolic process; insulin receptor signaling pathway; response to glucose stimulus | 13q34 |
| IRS3P | - | 7q22.1 |
| IRS4 | signal transduction | Xq22.3 |
| IRX1 | - | 5p15.3 |
| IRX1P1 | - | 13q12.12 |
| IRX2 | specification of loop of Henle identity; proximal/distal pattern formation involved in metanephric nephron development; metanephros development | 5p15.33 |
| IRX3 | multicellular organismal development | 16q12.2 |
| IRX4 | establishment of organ orientation; heart development | 5p15.3 |
| IRX5 | retinal bipolar neuron differentiation; response to stimulus; cell development; neuron maturation; visual perception; regulation of heart rate | 16q12.2 |
| IRX6 | - | 16q12.2 |
| ISCA1 | iron-sulfur cluster assembly | 9q21.33 |
| ISCA1P1 | - | 5q12.1 |
| ISCA1P2 | - | 1q42.13 |
| ISCA1P4 | - | 15q15.1 |
| ISCA1P5 | - | 19p13.11 |
| ISCA1P6 | - | 2q14.3 |
| ISCA2 | iron-sulfur cluster assembly | 14q24.3 |
| ISCA2P1 | - | 22q12.1 |
| ISCU | iron-sulfur cluster assembly; nitrogen fixation | 12q24.1 |
| ISCUP1 | - | - |
| ISG15 | response to virus; cell-cell signaling; innate immune response; cytokine-mediated signaling pathway; modification-dependent protein catabolic process; ISG15-protein conjugation; type I interferon-mediated signaling pathway; interspecies interaction between organisms; negative regulation of type I interferon production | 1p36.33 |
| ISG20 | cytokine-mediated signaling pathway; innate immune response; type I interferon-mediated signaling pathway; response to virus; cell proliferation; RNA catabolic process; rRNA processing; DNA catabolic process, exonucleolytic | 15q26 |
| ISG20L2 | ribosome biogenesis | 1q23.1 |
| ISL1 | pancreas development; axon regeneration; pituitary gland development; trigeminal nerve development; visceral motor neuron differentiation; spinal cord motor neuron differentiation; spinal cord motor neuron cell fate specification; positive regulation of cell proliferation; multicellular organismal development; regulation of secondary heart field cardioblast proliferation; cardiac right ventricle morphogenesis; endocardial cushion morphogenesis; outflow tract morphogenesis; outflow tract septum morphogenesis; secondary heart field specification; neural crest cell migration; negative regulation of transcription from RNA polymerase II promoter; retinal ganglion cell axon guidance; negative regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; neuron fate specification; mesenchymal cell differentiation; sensory system development; peripheral nervous system neuron axonogenesis; ventricular cardiac muscle tissue morphogenesis; pharyngeal system development; card | 5q11.1 |
| ISL2 | multicellular organismal development; neuron development; peripheral nervous system neuron development | 15q23 |
| ISLR | cell adhesion | 15q23-q24 |
| ISLR2 | multicellular organismal development; positive regulation of axon extension; nervous system development | 15q24.1 |
| ISM1 | - | 20p12.1 |
| ISM2 | - | 14q24.3 |
| ISOC1 | - | 5q22.1-q33.3 |
| ISOC2 | protein destabilization | 19q13.42 |
| ISPD | isoprenoid biosynthetic process | 7p21.2 |
| ISPD-AS1 | - | - |
| IST1 | cell division; cell cycle | 16q22.2 |
| ISX | - | 22q12.3 |
| ISY1 | nuclear mRNA splicing, via spliceosome; RNA splicing | 3q21.3 |
| ISYNA1 | phospholipid biosynthetic process; inositol biosynthetic process | 19p13.11 |
| ITCH | protein K48-linked ubiquitination; regulation of cell growth; protein modification process; ubiquitin-dependent protein catabolic process; inflammatory response; response to virus; protein ubiquitination; negative regulation of NF-kappaB transcription factor activity; negative regulation of type I interferon production; protein K29-linked ubiquitination; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; negative regulation of apoptotic process; interspecies interaction between organisms; innate immune response; negative regulation of JNK cascade; entry of virus into host cell; negative regulation of defense response to virus; nucleotide-binding oligomerization domain containing signaling pathway; protein K63-linked ubiquitination; regulation of protein deubiquitination | 20q11.22 |
| ITCH-IT1 | - | - |
| ITFG1 | - | 16q12.1 |
| ITFG2 | - | 12p13.33 |
| ITGA1 | muscle contraction; cell chemotaxis; neuron projection morphogenesis; cellular extravasation; positive regulation of neuron apoptosis; vasodilation; neutrophil chemotaxis; axon guidance; integrin-mediated signaling pathway; cell-matrix adhesion; activation of MAPK activity; cell adhesion | 5q11.2 |
| ITGA10 | cell-matrix adhesion; integrin-mediated signaling pathway; cell adhesion | 1q21 |
| ITGA11 | cell adhesion; muscle organ development; integrin-mediated signaling pathway; cell-matrix adhesion | 15q23 |
| ITGA2 | interspecies interaction between organisms; cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; axon guidance; blood coagulation; organ morphogenesis | 5q11.2 |
| ITGA2B | cell-matrix adhesion; platelet activation; blood coagulation; axon guidance; integrin-mediated signaling pathway; cell adhesion; platelet degranulation | 17q21.32 |
| ITGA3 | cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; blood coagulation; memory; leukocyte migration; neuron migration | 17q21.33 |
| ITGA4 | leukocyte cell-cell adhesion; chorio-allantoic fusion; face development; leukocyte migration; regulation of immune response; B cell differentiation; blood coagulation; heart development; integrin-mediated signaling pathway; heterophilic cell-cell adhesion; cell adhesion; blood vessel remodeling | 2q31.3 |
| ITGA5 | heterophilic cell-cell adhesion; angiogenesis; cell-substrate junction assembly; cell adhesion; leukocyte cell-cell adhesion; integrin-mediated signaling pathway; axon guidance; blood coagulation; memory; positive regulation of vascular endothelial growth factor receptor signaling pathway; cell-cell adhesion mediated by integrin; wound healing, spreading of epidermal cells; interspecies interaction between organisms; positive regulation of peptidyl-tyrosine phosphorylation; leukocyte migration | 12q11-q13 |
| ITGA6 | hemidesmosome assembly; cell junction assembly; positive regulation of phosphorylation; positive regulation of apoptotic process; negative regulation of apoptotic process; positive regulation of transcription from RNA polymerase II promoter; leukocyte migration; blood coagulation; integrin-mediated signaling pathway; cell adhesion; cell-substrate junction assembly | 2q31.1 |
| ITGA7 | cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; muscle organ development; regulation of cell shape | 12q13 |
| ITGA8 | cell-matrix adhesion; metanephros development; memory; nervous system development; multicellular organismal development; inner ear morphogenesis; positive regulation of transforming growth factor beta receptor signaling pathway; extracellular matrix organization; cell differentiation; cell projection organization; cell-cell adhesion; integrin-mediated signaling pathway | 10p13 |
| ITGA9 | axon guidance; cell adhesion; wound healing; integrin-mediated signaling pathway | 3p21.3 |
| ITGA9-AS1 | - | 3p22.2 |
| ITGAD | cell-cell adhesion; immune response; cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; activated T cell proliferation | 16p11.2 |
| ITGAE | integrin-mediated signaling pathway; cell adhesion | 17p13 |
| ITGAL | leukocyte migration; cell adhesion; positive regulation of calcium-mediated signaling; activated T cell proliferation; regulation of immune response; positive regulation of T cell proliferation; positive regulation of cell-cell adhesion; blood coagulation; integrin-mediated signaling pathway; signal transduction; leukocyte cell-cell adhesion; heterophilic cell-cell adhesion; inflammatory response; cellular component movement; T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell | 16p11.2 |
| ITGAM | leukocyte migration; blood coagulation; integrin-mediated signaling pathway; cell adhesion | 16p11.2 |
| ITGAV | leukocyte migration; regulation of phagocytosis; interspecies interaction between organisms; negative regulation of low-density lipoprotein particle receptor biosynthetic process; positive regulation of cell adhesion; entry of virus into host cell; negative regulation of lipoprotein metabolic process; entry of symbiont into host cell by promotion of host phagocytosis; positive regulation of cell proliferation; negative regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; entry of bacterium into host cell; positive regulation of osteoblast proliferation; negative regulation of lipid transport; positive regulation of cell migration; negative regulation of lipid storage; negative regulation of macrophage derived foam cell differentiation; angiogenesis; blood coagulation; axon guidance; integrin-mediated signaling pathway; cell-matrix adhesion; cell adhesion; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependen | 2q31-q32 |
| ITGAX | cell adhesion; integrin-mediated signaling pathway; blood coagulation; organ morphogenesis; leukocyte migration; defense response to virus | 16p11.2 |
| ITGB1 | positive regulation of endocytosis; in utero embryonic development; positive regulation of neuron differentiation; negative regulation of neuron differentiation; cellular calcium ion homeostasis; cellular defense response; cell adhesion; homophilic cell adhesion; leukocyte cell-cell adhesion; positive regulation of peptidyl-tyrosine phosphorylation; cell migration involved in sprouting angiogenesis; tissue homeostasis; cell fate specification; cell-matrix adhesion; G1/S transition of mitotic cell cycle; regulation of cell cycle; regulation of immune response; leukocyte migration; B cell differentiation; sarcomere organization; interspecies interaction between organisms; positive regulation of MAPK cascade; positive regulation of apoptotic process; response to drug; response to gonadotropin stimulus; cell junction assembly; cell-cell adhesion mediated by integrin; protein transport within lipid bilayer; response to nutrient levels; negative regulation of cell projection organization; positive regulation of cel | 10p11.2 |
| ITGB1BP1 | cell-matrix adhesion; intracellular protein kinase cascade; cell migration | 2p25.2 |
| ITGB1BP2 | muscle organ development; signal transduction | Xq12-q13.1 |
| ITGB2 | neutrophil chemotaxis; leukocyte migration; regulation of immune response; regulation of peptidyl-tyrosine phosphorylation; regulation of cell shape; blood coagulation; multicellular organismal development; integrin-mediated signaling pathway; cell-matrix adhesion; leukocyte cell-cell adhesion; cell-cell signaling; cell adhesion; inflammatory response; apoptotic process | 21q22.3 |
| ITGB2-AS1 | - | - |
| ITGB3 | positive regulation of vascular endothelial growth factor receptor signaling pathway; activation of protein kinase activity; negative regulation of lipid transport; positive regulation of osteoblast proliferation; tube development; platelet aggregation; angiogenesis involved in wound healing; leukocyte migration; negative regulation of lipoprotein metabolic process; positive regulation of peptidyl-tyrosine phosphorylation; negative regulation of low-density lipoprotein particle receptor biosynthetic process; regulation of bone resorption; interspecies interaction between organisms; wound healing; platelet activation; smooth muscle cell migration; negative regulation of lipid storage; negative regulation of macrophage derived foam cell differentiation; positive regulation of endothelial cell migration; blood coagulation; axon guidance; integrin-mediated signaling pathway; cell-matrix adhesion; cell adhesion; cell-substrate junction assembly; platelet degranulation; positive regulation of endothelial cell proli | 17q21.32 |
| ITGB3BP | mitotic prometaphase; M phase of mitotic cell cycle; cell adhesion; induction of apoptosis by extracellular signals; apoptotic process; signal transduction; CenH3-containing nucleosome assembly at centromere; nerve growth factor receptor signaling pathway; mitotic cell cycle; regulation of transcription, DNA-dependent; nucleosome assembly | 1p31.3 |
| ITGB4 | integrin-mediated signaling pathway; cell-matrix adhesion; multicellular organismal development; response to wounding; hemidesmosome assembly; cell junction assembly; cell motility; cell adhesion; cell communication | 17q25 |
| ITGB5 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; muscle contraction; antigen processing and presentation of peptide antigen via MHC class I; cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; multicellular organismal development; antigen processing and presentation of exogenous peptide antigen via MHC class I | 3q21.2 |
| ITGB5-AS1 | - | - |
| ITGB7 | cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; multicellular organismal development; regulation of immune response | 12q13.13 |
| ITGB8 | cell-matrix adhesion; multicellular organismal development; placenta blood vessel development; ganglioside metabolic process; cell adhesion; integrin-mediated signaling pathway | 7p21.1 |
| ITGBL1 | integrin-mediated signaling pathway; cell-matrix adhesion; cell adhesion | 13q33 |
| ITIH1 | hyaluronan metabolic process; leukocyte activation | 3p21.1 |
| ITIH2 | negative regulation of endopeptidase activity; hyaluronan metabolic process | 10p15 |
| ITIH3 | negative regulation of endopeptidase activity; hyaluronan metabolic process | 3p21.1 |
| ITIH4 | negative regulation of endopeptidase activity; acute-phase response; hyaluronan metabolic process | 3p21.1 |
| ITIH5 | hyaluronan metabolic process | 10p14 |
| ITIH6 | hyaluronan metabolic process | Xp11.22-p11.21 |
| ITK | cytokine production; NK T cell differentiation; adaptive immune response; cellular defense response; signal transduction; activation of phospholipase C activity; interferon-gamma production; interleukin-4 production; intracellular signal transduction; T cell activation; T cell receptor signaling pathway | 5q31-q32 |
| ITLN1 | positive regulation of protein phosphorylation; signal transduction; positive regulation of glucose import; response to nematode | 1q21.3 |
| ITLN2 | signal transduction | 1q22-q23 |
| ITM2A | - | Xq13.3-Xq21.2 |
| ITM2B | apoptotic process; induction of apoptosis; nervous system development | 13q14.3 |
| ITM2C | negative regulation of neuron projection development; neuron differentiation; induction of programmed cell death | 2q37 |
| ITPA | metabolic process; nucleotide metabolic process | 20p |
| ITPK1 | signal transduction; inositol trisphosphate metabolic process; metabolic process; blood coagulation | 14q31 |
| ITPKA | signal transduction; inositol metabolic process | 15q15.1 |
| ITPKB | positive regulation of alpha-beta T cell differentiation; positive regulation of Ras protein signal transduction; positive thymic T cell selection; T cell differentiation; cell surface receptor signaling pathway; signal transduction; MAPK cascade | 1q42.13 |
| ITPKB-AS1 | - | - |
| ITPKB-IT1 | - | 1q42.13 |
| ITPKC | - | 19q13.1 |
| ITPR1 | transmembrane transport; energy reserve metabolic process; calcium ion transmembrane transport; regulation of insulin secretion; inositol phosphate-mediated signaling; nerve growth factor receptor signaling pathway; small molecule metabolic process; platelet activation; fibroblast growth factor receptor signaling pathway; cell death; blood coagulation; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; signal transduction; calcium ion transport; ion transport; response to hypoxia | 3p26.1 |
| ITPR1-AS1 | - | - |
| ITPR2 | nerve growth factor receptor signaling pathway; response to hypoxia; cellular response to cAMP; calcium ion transmembrane transport; transmembrane transport; regulation of insulin secretion; inositol phosphate-mediated signaling; small molecule metabolic process; platelet activation; fibroblast growth factor receptor signaling pathway; blood coagulation; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; signal transduction; ion transport; transport; energy reserve metabolic process | 12p11 |
| ITPR3 | activation of phospholipase C activity; energy reserve metabolic process; ion transport; signal transduction; epidermal growth factor receptor signaling pathway; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration; calcium ion transport into cytosol; transmembrane transport; response to calcium ion; protein heterooligomerization; protein homooligomerization; sensory perception of umami taste; sensory perception of sweet taste; sensory perception of bitter taste; regulation of insulin secretion; inositol phosphate-mediated signaling; nerve growth factor receptor signaling pathway; small molecule metabolic process; platelet activation; fibroblast growth factor receptor signaling pathway; blood coagulation | 6p21 |
| ITPRIP | - | 10q25.1 |
| ITPRIPL1 | - | 2q11.2 |
| ITPRIPL2 | - | 16p12.3 |
| ITSN1 | regulation of small GTPase mediated signal transduction; positive regulation of protein kinase B signaling cascade; synaptic vesicle endocytosis; apoptotic process; nerve growth factor receptor signaling pathway; negative regulation of neuron apoptosis; positive regulation of catalytic activity; regulation of Rho protein signal transduction; induction of apoptosis by extracellular signals; small GTPase mediated signal transduction | 21q22.1-q22.2 |
| ITSN2 | endocytosis; regulation of Rho protein signal transduction | 2pter-p25.1 |
| IVD | leucine catabolic process; branched chain family amino acid catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 15q14-q15 |
| IVL | response to UV-B; peptide cross-linking; isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine; keratinocyte differentiation; keratinization | 1q21 |
| IVNS1ABP | transcription from RNA polymerase III promoter; RNA splicing; response to virus; interspecies interaction between organisms | 1q25.1-q31.1 |
| IWS1 | transcription, DNA-dependent | 2q14.3 |
| IYD | oxidation-reduction process; small molecule metabolic process; thyroid hormone generation; cellular nitrogen compound metabolic process | 6q25.1 |
| IZUMO1 | cell adhesion; fusion of sperm to egg plasma membrane | 19q13.33 |
| IZUMO1R | - | 11q21 |
| IZUMO2 | - | 19q13.33 |
| IZUMO3 | - | 9p21.3 |
| IZUMO4 | - | 19p13.3 |
| JADE1 | regulation of transcription, DNA-dependent; histone H4-K16 acetylation; apoptotic process; response to stress; negative regulation of cell growth; histone H3 acetylation; histone H4-K5 acetylation; histone H4-K12 acetylation; histone H4-K8 acetylation | 4q26-q27 |
| JADE2 | histone H4-K16 acetylation; histone H4-K5 acetylation; histone H4-K8 acetylation; histone H4-K12 acetylation; histone H3 acetylation | 5q31.1 |
| JADE3 | histone H4-K16 acetylation; histone H4-K12 acetylation; histone H4-K8 acetylation; histone H3 acetylation; histone H4-K5 acetylation | Xp11.23 |
| JAG1 | regulation of cell proliferation; auditory receptor cell differentiation; myoblast differentiation; response to muramyl dipeptide; regulation of cell migration; endothelial cell differentiation; negative regulation of fat cell differentiation; positive regulation of myeloid cell differentiation; negative regulation of neuron differentiation; keratinocyte differentiation; organ morphogenesis; angiogenesis; cell fate determination; morphogenesis of an epithelial sheet; negative regulation of stem cell differentiation; neuronal stem cell maintenance; loop of Henle development; distal tubule development; inner ear development; positive regulation of Notch signaling pathway; cell communication; Notch signaling pathway; Notch receptor processing; multicellular organismal development; nervous system development; hemopoiesis | 20p12.1-p11.23 |
| JAG2 | regulation of apoptotic process; thymic T cell selection; odontogenesis of dentin-containing tooth; regulation of cell proliferation; regulation of cell migration; T cell differentiation; regulation of cell adhesion; cell differentiation; morphogenesis of embryonic epithelium; auditory receptor cell fate commitment; multicellular organismal development; Notch receptor processing; Notch signaling pathway; cell communication; cell cycle; respiratory system process; in utero embryonic development; skeletal system development; spermatogenesis | 14q32 |
| JAGN1 | - | 3p25.2 |
| JAK1 | cytokine-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; type I interferon-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway; interferon-gamma-mediated signaling pathway; response to antibiotic; intracellular signal transduction; peptidyl-tyrosine phosphorylation; intracellular protein kinase cascade; enzyme linked receptor protein signaling pathway; protein phosphorylation | 1p32.3-p31.3 |
| JAK2 | positive regulation of phosphatidylinositol 3-kinase cascade; protein phosphorylation; apoptotic process; cellular component movement; signal transduction; enzyme linked receptor protein signaling pathway; intracellular protein kinase cascade; JAK-STAT cascade; positive regulation of tumor necrosis factor production; positive regulation of apoptotic process; activation of JAK2 kinase activity; positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of tyrosine phosphorylation of Stat3 protein; interleukin-12-mediated signaling pathway; intracellular signal transduction; histone H3-Y41 phosphorylation; response to tumor necrosis factor; tumor necrosis factor-mediated signaling pathway; STAT protein import into nucleus; response to lipopolysaccharide; erythrocyte differentiation; cell differentiation; actin filament polymerization; cytokine-mediated signaling pathway; peptidyl-tyrosine phosphorylation; chromatin modification; positive regulation of cell-substrate adhesion; innate i | 9p24 |
| JAK3 | peptidyl-tyrosine phosphorylation; negative regulation of thymocyte apoptosis; positive regulation of activated T cell proliferation; tyrosine phosphorylation of Stat5 protein; regulation of apoptotic process; T cell homeostasis; innate immune response; negative regulation of FasL biosynthetic process; negative regulation of T-helper 1 cell differentiation; positive regulation of anti-apoptosis; positive regulation of transcription from RNA polymerase II promoter; protein autophosphorylation; positive regulation of immune response; negative regulation of T cell activation; positive regulation of calcium ion transport; JAK-STAT cascade involved in growth hormone signaling pathway; regulation of T cell apoptosis; response to interleukin-2; response to interleukin-4; response to interleukin-15; response to interleukin-9; negative regulation of interleukin-12 production; negative regulation of interleukin-10 production; B cell differentiation; cytokine-mediated signaling pathway; STAT protein import into nucleus; | 19p13.1 |
| JAKMIP1 | protein transport | 4p16.1 |
| JAKMIP2 | - | 5q32 |
| JAKMIP2-AS1 | - | 5q32 |
| JAKMIP3 | - | 10q26.3 |
| JAM2 | leukocyte migration; negative regulation of cell adhesion; blood coagulation; cell-cell adhesion | 21q21.2 |
| JAM3 | angiogenesis; cell adhesion; blood coagulation; leukocyte migration; regulation of neutrophil chemotaxis | 11q25 |
| JAML | regulation of immune response; neutrophil chemotaxis; transepithelial transport; blood coagulation; cell adhesion; leukocyte migration; heterophilic cell-cell adhesion | 11q23.3 |
| JARID2 | stem cell differentiation; negative regulation of transcription from RNA polymerase II promoter; liver development; multicellular organismal development; central nervous system development; negative regulation of cell proliferation; chromatin modification; negative regulation of histone methylation; negative regulation of transcription, DNA-dependent; spleen development; thymus development; positive regulation of histone H3-K9 methylation | 6p24-p23 |
| JARID2-AS1 | - | - |
| JAZF1 | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 7p15.2-p15.1 |
| JAZF1-AS1 | - | 7p15.1 |
| JCHAIN | immune response | 4q21 |
| JDP2 | negative regulation of transcription from RNA polymerase II promoter | 14q24.3 |
| JHDM1D-AS1 | - | 7q34 |
| JKAMP | ER-associated protein catabolic process; response to unfolded protein | 14q23.1 |
| JMJD1C | chromatin modification; blood coagulation; regulation of transcription, DNA-dependent | 10q21.3 |
| JMJD1C-AS1 | - | 10q21.3 |
| JMJD4 | - | 1q42.13 |
| JMJD6 | sprouting angiogenesis; T cell differentiation in thymus; regulation of transcription, DNA-dependent; chromatin modification; blood vessel development; macrophage activation; recognition of apoptotic cell; regulation of nuclear mRNA splicing, via spliceosome; erythrocyte development; retina development in camera-type eye; lung development; cell differentiation; peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine; kidney development; RNA splicing; heart development; histone H3-R2 demethylation; histone H4-R3 demethylation; multicellular organismal development; cell surface receptor signaling pathway; apoptotic process; mRNA processing | 17q25 |
| JMJD7 | - | 15q15.1 |
| JMJD7-PLA2G4B | - | 15q11.2-q21.3 |
| JMJD8 | - | 16p13.3 |
| JMY | positive regulation of apoptotic process; positive regulation of sequence-specific DNA binding transcription factor activity; 'de novo' actin filament nucleation; Arp2/3 complex-mediated actin nucleation; cell cycle arrest; regulation of transcription from RNA polymerase II promoter; DNA repair; actin polymerization-dependent cell motility; induction of apoptosis | 5q14.1 |
| JOSD1 | proteolysis | 22q13.1 |
| JOSD2 | protein deubiquitination; proteolysis | 19q13.33 |
| JPH1 | muscle organ development; regulation of ryanodine-sensitive calcium-release channel activity; calcium ion transport into cytosol | 8q21 |
| JPH2 | regulation of cardiac muscle tissue development; calcium ion homeostasis; positive regulation of ryanodine-sensitive calcium-release channel activity; calcium ion transport into cytosol; regulation of ryanodine-sensitive calcium-release channel activity | 20q13.12 |
| JPH3 | memory; exploration behavior; locomotion; regulation of neuronal synaptic plasticity; calcium ion transport into cytosol; regulation of ryanodine-sensitive calcium-release channel activity | 16q24.3 |
| JPH4 | regulation of ryanodine-sensitive calcium-release channel activity; calcium ion transport into cytosol | 14q11 |
| JPX | - | Xq13.2 |
| JRK | regulation of transcription, DNA-dependent | 8q24.3 |
| JRKL | regulation of transcription, DNA-dependent; central nervous system development | 11q21 |
| JSRP1 | - | 19p13.3 |
| JTB | regulation of cell proliferation; cell cycle cytokinesis; mitosis; cell cycle; negative regulation of apoptotic process; cell division; positive regulation of protein kinase activity | 1q21 |
| JUN | positive regulation of fibroblast proliferation; cellular response to calcium ion; SMAD protein signal transduction; membrane depolarization; regulation of cell cycle; negative regulation of neuron apoptosis; response to lipopolysaccharide; response to cytokine stimulus; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; leading edge cell differentiation; TRIF-dependent toll-like receptor signaling pathway; response to drug; response to hydrogen peroxide; negative regulation of DNA binding; positive regulation of Rho GTPase activity; positive regulation of neuron apoptosis; negative regulation by host of viral transcription; positive regulation by host of viral transcription; innate immune response; positive regulation of monocyte differentiation; positive regulation of DNA replication; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive re | 1p32-p31 |
| JUNB | response to peptide hormone stimulus; positive regulation of cell differentiation; response to drug; response to cytokine stimulus; osteoblast proliferation; cellular response to hormone stimulus; response to progesterone stimulus; osteoclast differentiation; response to organic cyclic compound; cellular process; response to mechanical stimulus; response to light stimulus; regulation of transcription from RNA polymerase II promoter; trophectodermal cell differentiation; in utero embryonic development; osteoblast differentiation; vasculogenesis; positive regulation of transcription from RNA polymerase II promoter during mitosis; cellular response to calcium ion; labyrinthine layer blood vessel development; embryonic process involved in female pregnancy; regulation of cell cycle; response to cAMP; response to corticosterone stimulus; decidualization | 19p13.2 |
| JUND | osteoblast development; regulation of transcription from RNA polymerase II promoter; positive regulation of osteoblast differentiation; positive regulation of transcription from RNA polymerase II promoter; cellular response to calcium ion | 19p13.2 |
| JUP | atrioventricular valve morphogenesis; negative regulation of Wnt receptor signaling pathway involved in heart development; cell-cell adhesion; cytoskeletal anchoring at plasma membrane; negative regulation of heart induction by canonical Wnt receptor signaling pathway; desmosome assembly; cell morphogenesis; negative regulation of transcription from RNA polymerase II promoter; cell migration; ectoderm development; cell junction assembly; adherens junction organization; positive regulation of protein import into nucleus; skin development; cell-cell junction organization; oocyte development; detection of mechanical stimulus; positive regulation of sequence-specific DNA binding transcription factor activity; endothelial cell-cell adhesion; cellular response to indole-3-methanol; positive regulation of canonical Wnt receptor signaling pathway; morphogenesis of embryonic epithelium; nervous system development; gastrulation | 17q21 |
| KAAG1 | immune response | 6p22.1 |
| KALP | - | Yq11 |
| KALRN | signal transduction; apoptotic process; protein phosphorylation; regulation of Rho protein signal transduction; regulation of small GTPase mediated signal transduction; intracellular signal transduction; induction of apoptosis by extracellular signals; nervous system development; small GTPase mediated signal transduction; vesicle-mediated transport; nerve growth factor receptor signaling pathway | 3q21.2 |
| KANK1 | negative regulation of actin filament polymerization | 9p24.3 |
| KANK2 | - | 19p13.2 |
| KANK3 | - | 19p13.2 |
| KANK4 | - | 1p31.3 |
| KANSL1 | histone H4-K5 acetylation; histone H4-K8 acetylation; histone H4-K16 acetylation | 17q21.31 |
| KANSL1-AS1 | - | 17q21.31 |
| KANSL1L | - | 2q34 |
| KANSL2 | histone H4-K16 acetylation; histone H4-K8 acetylation; histone H4-K5 acetylation | 12q13.11 |
| KANSL3 | histone H4-K5 acetylation; histone H4-K8 acetylation; histone H4-K16 acetylation | 2q11.2 |
| KANTR | - | Xp11.22 |
| KARS | gene expression; interspecies interaction between organisms; tRNA processing; lysyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 16q23.1 |
| KARSP1 | - | - |
| KARSP2 | - | - |
| KAT2A | midbrain development; neural tube closure; somitogenesis; in utero embryonic development; interspecies interaction between organisms; chromatin remodeling; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; nervous system development; cell proliferation; histone deubiquitination; telencephalon development; metencephalon development; multicellular organism growth; regulation of apoptotic process; histone H3 acetylation; histone H3-K14 acetylation | 17q21 |
| KAT2B | positive regulation of transcription from RNA polymerase II promoter; chromatin remodeling; transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; protein acetylation; negative regulation of cyclin-dependent protein kinase activity; interspecies interaction between organisms; histone H3 acetylation; negative regulation of phosphorylation; cellular response to insulin stimulus; peptidyl-lysine acetylation; N-terminal peptidyl-lysine acetylation; gene expression; negative regulation of cell proliferation; Notch signaling pathway; cell cycle arrest; cell cycle | 3p24 |
| KAT5 | DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; positive regulation of transcription, DNA-dependent; chromatin modification; negative regulation of transcription, DNA-dependent; interspecies interaction between organisms; regulation of growth; histone acetylation; androgen receptor signaling pathway; negative regulation of interleukin-2 production; double-strand break repair; negative regulation of transcription from RNA polymerase II promoter | 11q13 |
| KAT6A | positive regulation of transcription, DNA-dependent; myeloid cell differentiation; histone H3 acetylation; histone acetylation; chromatin modification; nucleosome assembly; negative regulation of transcription, DNA-dependent; DNA packaging | 8p11 |
| KAT6B | regulation of transcription, DNA-dependent; histone acetylation; nucleosome assembly; chromatin modification; histone H3 acetylation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 10q22.2 |
| KAT7 | chromatin modification; histone H4-K16 acetylation; histone H4-K12 acetylation; histone H4-K8 acetylation; histone H4-K5 acetylation; histone H3 acetylation; regulation of transcription, DNA-dependent; DNA replication | 17q21.32 |
| KAT8 | chromatin modification; histone H4-K5 acetylation; myeloid cell differentiation; negative regulation of transcription, DNA-dependent; histone acetylation; positive regulation of transcription, DNA-dependent; histone H4-K16 acetylation; histone H4-K8 acetylation | 16p11.2 |
| KATNA1 | microtubule severing; cell cycle; mitosis; neuron migration; protein localization; negative regulation of neuron projection development; interphase of mitotic cell cycle; cell division; cytoplasmic microtubule organization | 6q25.1 |
| KATNAL1 | - | 13q12.3 |
| KATNAL2 | - | 18q21.1 |
| KATNB1 | mitosis; cell division; microtubule severing; positive regulation of microtubule depolymerization; positive regulation of neuron projection development; positive regulation of cell death; protein targeting; negative regulation of microtubule depolymerization; cell cycle | 16q21 |
| KATNBL1 | - | 15q14 |
| KATNBL1P6 | - | 6q24.3 |
| KAZALD1 | multicellular organismal development; extracellular matrix organization; cell differentiation; ossification; regulation of cell growth | 10q24.31 |
| KAZN | keratinization | 1p36.21 |
| KBTBD11 | - | 8p23.3 |
| KBTBD11-OT1 | - | 8p23.3 |
| KBTBD12 | - | 3q21.3 |
| KBTBD13 | - | 15q22.31 |
| KBTBD2 | - | 7p14.3 |
| KBTBD3 | - | 11q22.3 |
| KBTBD4 | - | 11p11.2 |
| KBTBD6 | - | 13q14.11 |
| KBTBD7 | - | 13q14.11 |
| KBTBD8 | - | 3p14 |
| KC6 | - | - |
| KCMF1 | - | 2p11.2 |
| KCNA1 | ion transport; potassium ion transport; synaptic transmission; transmembrane transport; potassium ion transmembrane transport | 12p13.32 |
| KCNA2 | potassium ion transmembrane transport; synaptic transmission; ion transport; transmembrane transport; potassium ion transport | 1p13 |
| KCNA3 | transmembrane transport; regulation of ion transmembrane transport; synaptic transmission; potassium ion transport; ion transport | 1p13.3 |
| KCNA4 | transmembrane transport; synaptic transmission; potassium ion transport; ion transport | 11p14 |
| KCNA5 | response to hypoxia; ion transport; potassium ion transport; synaptic transmission; potassium ion homeostasis; transmembrane transport; reduction of cytosolic calcium ion concentration; negative regulation of potassium ion transport; protein oligomerization; regulation of membrane potential | 12p13 |
| KCNA6 | ion transport; potassium ion transport; synaptic transmission; transmembrane transport | 12p13 |
| KCNA7 | transmembrane transport; synaptic transmission; potassium ion transport; ion transport | 19q13.3 |
| KCNAB1 | transmembrane transport; synaptic transmission; potassium ion transport; ion transport | 3q26.1 |
| KCNAB1-AS1 | - | - |
| KCNAB2 | ion transport; synaptic transmission; potassium ion transport; transmembrane transport | 1p36.3 |
| KCNAB3 | potassium ion transport; ion transport; transmembrane transport; synaptic transmission | 17p13.1 |
| KCNB1 | energy reserve metabolic process; ion transport; potassium ion transport; synaptic transmission; small molecule metabolic process; regulation of insulin secretion; transmembrane transport | 20q13.2 |
| KCNB2 | ion transport; transmembrane transport; synaptic transmission; regulation of smooth muscle contraction; potassium ion transport | 8q13.2 |
| KCNC1 | ion transport; synaptic transmission; transmembrane transport; potassium ion transport | 11p15 |
| KCNC2 | regulation of insulin secretion; transmembrane transport; small molecule metabolic process; synaptic transmission; potassium ion transport; ion transport; energy reserve metabolic process | 12q14.1 |
| KCNC3 | ion transport; potassium ion transport; synaptic transmission; cell death; regulation of neurotransmitter secretion; transmembrane transport | 19q13.33 |
| KCNC4 | synaptic transmission; ion transport; potassium ion transmembrane transport; transmembrane transport; regulation of neurotransmitter secretion; potassium ion transport | 1p21 |
| KCND1 | synaptic transmission; transmembrane transport; potassium ion transport; ion transport | Xp11.23 |
| KCND2 | transmembrane transport; protein heterooligomerization; synaptic transmission; potassium ion transport; ion transport; regulation of action potential | 7q31 |
| KCND3 | transmembrane transport; synaptic transmission; potassium ion transport; ion transport | 1p13.3 |
| KCND3-AS1 | - | - |
| KCND3-IT1 | - | - |
| KCNE1 | potassium ion transport; potassium ion export; regulation of heart contraction; blood circulation; sensory perception of sound; muscle contraction; ion transport; epithelial cell maturation; membrane depolarization | 21q22.12 |
| KCNE2 | ion transport; regulation of heart contraction; blood circulation; potassium ion transport; muscle contraction | 21q22.12 |
| KCNE3 | regulation of potassium ion transport; ion transport | 11q13.4 |
| KCNE4 | potassium ion transport; ion transport | 2q36.1 |
| KCNE5 | regulation of heart contraction | Xq22.3 |
| KCNF1 | synaptic transmission; transmembrane transport; potassium ion transmembrane transport; potassium ion transport; ion transport | 2p25 |
| KCNG1 | potassium ion transmembrane transport; transmembrane transport; synaptic transmission; potassium ion transport; ion transport | 20q13 |
| KCNG2 | transmembrane transport; regulation of insulin secretion; small molecule metabolic process; regulation of heart contraction; synaptic transmission; potassium ion transport; ion transport; energy reserve metabolic process | 18q23 |
| KCNG3 | ion transport; potassium ion transport; synaptic transmission; transmembrane transport | 2p21 |
| KCNG4 | synaptic transmission; potassium ion transport; ion transport; transmembrane transport | 16q24.1 |
| KCNH1 | transmembrane transport; myoblast fusion; potassium ion transport; ion transport; regulation of transcription, DNA-dependent | 1q32.2 |
| KCNH1-IT1 | - | - |
| KCNH2 | regulation of membrane potential; protein heterooligomerization; transmembrane transport; blood circulation; regulation of transcription, DNA-dependent; ion transport; potassium ion transport; muscle contraction; synaptic transmission; regulation of heart contraction | 7q36.1 |
| KCNH3 | synaptic transmission; transmembrane transport; regulation of transcription, DNA-dependent; ion transport; potassium ion transport | 12q13 |
| KCNH4 | ion transport; transmembrane transport; synaptic transmission; potassium ion transport; regulation of transcription, DNA-dependent | 17q21.2 |
| KCNH5 | transmembrane transport; synaptic transmission; regulation of transcription, DNA-dependent; potassium ion transport; ion transport | 14q23.2 |
| KCNH6 | transmembrane transport; protein heterooligomerization; synaptic transmission; signal transduction; potassium ion transport; ion transport; regulation of transcription, DNA-dependent | 17q23.3 |
| KCNH7 | synaptic transmission; regulation of transcription, DNA-dependent; ion transport; transmembrane transport; protein heterooligomerization; circadian rhythm; potassium ion transport | 2q24.2 |
| KCNH8 | negative regulation of apoptotic process; transmembrane transport; regulation of transcription, DNA-dependent; synaptic transmission; ion transport; potassium ion transport | 3p24.3 |
| KCNIP1 | positive regulation of action potential; synaptic transmission; signal transduction; potassium ion transport; ion transport; detection of calcium ion | 5q35.1 |
| KCNIP2 | ion transport; clustering of voltage-gated potassium channels; regulation of heart contraction; synaptic transmission; signal transduction; muscle contraction; potassium ion transport; detection of calcium ion | 10q24 |
| KCNIP3 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; response to pain; regulation of neuron apoptosis; sensory perception of pain; behavior; signal transduction; apoptotic process; potassium ion transport; ion transport | 2q21.1 |
| KCNIP4 | potassium ion transport; ion transport | 4p15.32 |
| KCNIP4-IT1 | - | 4p15.2 |
| KCNJ1 | excretion; synaptic transmission; ion transport; potassium ion transport | 11q24 |
| KCNJ10 | response to blue light; membrane hyperpolarization; regulation of resting membrane potential; potassium ion homeostasis; glutamate uptake involved in synaptic transmission; regulation of sensory perception of pain; response to glucocorticoid stimulus; protein homotetramerization; regulation of long-term neuronal synaptic plasticity; central nervous system myelination; ion transport; potassium ion transport; inflammatory response; synaptic transmission; visual perception; adult walking behavior; potassium ion import; optic nerve development; response to mineralocorticoid stimulus | 1q23.2 |
| KCNJ11 | response to drug; neurological system process; regulation of insulin secretion; negative regulation of insulin secretion; small molecule metabolic process; regulation of membrane potential; response to testosterone stimulus; response to ATP; potassium ion import; synaptic transmission; potassium ion transport; ion transport; energy reserve metabolic process; glucose metabolic process | 11p15.1 |
| KCNJ12 | ion transport; regulation of heart contraction; blood circulation; synaptic transmission; muscle contraction; potassium ion transport | 17p11.2 |
| KCNJ13 | potassium ion transport; ion transport | 2q37 |
| KCNJ14 | synaptic transmission; ion transport; potassium ion transport | 19q13 |
| KCNJ15 | ion transport; potassium ion transport; synaptic transmission | 21q22.2 |
| KCNJ16 | ion transport; potassium ion transport; synaptic transmission | 17q24.3 |
| KCNJ2 | ion transport; potassium ion transport; synaptic transmission | 17q24.3 |
| KCNJ2-AS1 | - | 17q24.3 |
| KCNJ3 | response to electrical stimulus; synaptic transmission; potassium ion transport; ion transport | 2q24.1 |
| KCNJ4 | ion transport; potassium ion transport; synaptic transmission | 22q13.1 |
| KCNJ5 | ion transport; potassium ion transport; synaptic transmission | 11q24 |
| KCNJ6 | synaptic transmission; response to electrical stimulus; thyroid hormone metabolic process; potassium ion transport; ion transport | 21q22.1 |
| KCNJ8 | heart development; defense response to virus; response to exogenous dsRNA; vasodilation; response to lipopolysaccharide; potassium ion import; response to pH; synaptic transmission; potassium ion transport; ion transport; kidney development | 12p11.23 |
| KCNJ9 | ion transport; potassium ion transport; synaptic transmission | 1q23.2 |
| KCNK1 | synaptic transmission; ion transport; potassium ion transport; response to nicotine | 1q42-q43 |
| KCNK10 | signal transduction; synaptic transmission; transport; ion transport; potassium ion transport; potassium ion transmembrane transport | 14q31.3 |
| KCNK12 | ion transport; potassium ion transport | 2p16.3 |
| KCNK13 | potassium ion transmembrane transport; ion transport; potassium ion transport; synaptic transmission | 14q32.11 |
| KCNK15 | potassium ion transport; ion transport | 20q13.12 |
| KCNK16 | synaptic transmission; potassium ion transmembrane transport; potassium ion transport; ion transport | 6p21.2-p21.1 |
| KCNK17 | ion transport; potassium ion transport; synaptic transmission; potassium ion transmembrane transport | 6p21.1 |
| KCNK18 | cellular response to pH; potassium ion transport; ion transport; synaptic transmission; potassium ion export; potassium ion transmembrane transport | 10q25.3 |
| KCNK2 | ion transport; potassium ion transport; G-protein coupled receptor signaling pathway; synaptic transmission; potassium ion transmembrane transport | 1q41 |
| KCNK3 | potassium ion transport; cochlea development; potassium ion transmembrane transport; cellular response to hypoxia; cellular response to zinc ion; reduction of cytosolic calcium ion concentration; response to drug; brain development; synaptic transmission; ion transport | 2p23 |
| KCNK4 | potassium ion transport; potassium ion transmembrane transport; synaptic transmission; ion transport | 11q13 |
| KCNK5 | potassium ion transmembrane transport; potassium ion transport; ion transport; excretion | 6p21 |
| KCNK6 | synaptic transmission; potassium ion transport; ion transport | 19q13.1 |
| KCNK7 | ion transport; potassium ion transmembrane transport; synaptic transmission; potassium ion transport | 11q13 |
| KCNK9 | potassium ion transmembrane transport; ion transport; potassium ion transport; synaptic transmission | 8q24.3 |
| KCNMA1 | micturition; transmembrane transport; potassium ion transmembrane transport; smooth muscle contraction involved in micturition; potassium ion transport; response to calcium ion; negative regulation of cell volume; positive regulation of apoptotic process; regulation of membrane potential; response to carbon monoxide; cellular potassium ion homeostasis; blood coagulation; synaptic transmission; ion transport; response to hypoxia; response to osmotic stress | 10q22.3 |
| KCNMB1 | blood coagulation; synaptic transmission; potassium ion transport; ion transport; response to calcium ion; potassium ion transmembrane transport | 5q34 |
| KCNMB2 | ion transport; potassium ion transport; synaptic transmission; blood coagulation; regulation of action potential in neuron; regulation of vasoconstriction; detection of calcium ion; regulation of action potential; potassium ion transmembrane transport | 3q26.32 |
| KCNMB3 | synaptic transmission; potassium ion transmembrane transport; potassium ion transport; regulation of action potential in neuron; ion transport; detection of calcium ion; regulation of action potential; blood coagulation | 3q26.3-q27 |
| KCNMB4 | potassium ion transport; ion transport; detection of calcium ion; synaptic transmission; blood coagulation; regulation of action potential in neuron; regulation of vasoconstriction; regulation of neurotransmitter secretion; potassium ion transmembrane transport; regulation of action potential | 12q |
| KCNN1 | potassium ion transport; ion transport; synaptic transmission; potassium ion transmembrane transport | 19p13.1 |
| KCNN2 | ion transport; potassium ion transport; synaptic transmission; potassium ion transmembrane transport | 5q22.3 |
| KCNN3 | ion transport; potassium ion transport; synaptic transmission; potassium ion transmembrane transport | 1q21.3 |
| KCNN4 | positive regulation of protein secretion; ion transport; potassium ion transport; calcium ion transport; cell volume homeostasis; defense response; synaptic transmission; stabilization of membrane potential; phospholipid translocation; saliva secretion; positive regulation of T cell receptor signaling pathway | 19q13.2 |
| KCNQ1 | negative regulation of insulin secretion; regulation of gene expression by genetic imprinting; blood circulation; regulation of heart contraction; gene silencing; response to chemical stimulus; transmembrane transport; regulation of membrane repolarization; potassium ion export; ion transport; synaptic transmission; sensory perception of sound; muscle contraction; potassium ion transport | 11p15.5 |
| KCNQ1OT1 | - | 11p15 |
| KCNQ2 | potassium ion transmembrane transport; transmembrane transport; axon guidance; nervous system development; synaptic transmission; potassium ion transport; ion transport | 20q13.3 |
| KCNQ3 | potassium ion transmembrane transport; transmembrane transport; axon guidance; synaptic transmission; potassium ion transport; ion transport | 8q24 |
| KCNQ4 | sensory perception of sound; synaptic transmission; potassium ion transport; ion transport; negative regulation of synaptic transmission, dopaminergic; inner ear morphogenesis; transmembrane transport; potassium ion transmembrane transport | 1p34 |
| KCNQ5 | protein complex assembly; transmembrane transport; synaptic transmission; potassium ion transport; ion transport | 6q14 |
| KCNQ5-IT1 | - | - |
| KCNRG | potassium ion transport | 13q14.2 |
| KCNS1 | potassium ion transport; transmembrane transport; ion transport; synaptic transmission | 20q12 |
| KCNS2 | potassium ion transport; transmembrane transport; ion transport; synaptic transmission | 8q22 |
| KCNS3 | regulation of insulin secretion; energy reserve metabolic process; ion transport; potassium ion transport; synaptic transmission; small molecule metabolic process; transmembrane transport | 2p24 |
| KCNT1 | potassium ion transport; potassium ion transmembrane transport; ion transport | 9q34.3 |
| KCNT2 | potassium ion transport; potassium ion transmembrane transport; ion transport | 1q31.3 |
| KCNU1 | ion transport; potassium ion transport; potassium ion transmembrane transport; transmembrane transport | 8p11.23 |
| KCNV1 | ion transport; potassium ion transport; synaptic transmission; transmembrane transport | 8q23.2 |
| KCNV2 | potassium ion transport; transmembrane transport; synaptic transmission; ion transport | 9p24.2 |
| KCP | - | 7q32.1 |
| KCTD1 | negative regulation of transcription, DNA-dependent; potassium ion transport | 18q11.2 |
| KCTD10 | potassium ion transport; protein ubiquitination; proteasomal ubiquitin-dependent protein catabolic process | 12q24.11 |
| KCTD11 | potassium ion transport; cell cycle; regulation of growth; cell differentiation; nervous system development; multicellular organismal development; regulation of cell proliferation | 17p13.1 |
| KCTD12 | potassium ion transport | 13q22.3 |
| KCTD13 | cell migration; potassium ion transport; proteasomal ubiquitin-dependent protein catabolic process; stress fiber assembly; DNA replication; protein ubiquitination; negative regulation of Rho protein signal transduction | 16p11.2 |
| KCTD14 | potassium ion transport | 11q14.1 |
| KCTD15 | potassium ion transport | 19q13.11 |
| KCTD16 | potassium ion transport | 5q31.3 |
| KCTD17 | potassium ion transport | 22q12.3 |
| KCTD18 | potassium ion transport | 2q33.1 |
| KCTD19 | potassium ion transport | 16q22.1 |
| KCTD2 | potassium ion transport | 17q25.1 |
| KCTD20 | potassium ion transport | 6p21.31 |
| KCTD21 | potassium ion transport | 11q14.1 |
| KCTD21-AS1 | - | 11q14.1 |
| KCTD3 | potassium ion transport | 1q41 |
| KCTD4 | potassium ion transport | 13q14.12 |
| KCTD5 | potassium ion transport; interspecies interaction between organisms | 16p13.3 |
| KCTD6 | potassium ion transport | 3p14.3 |
| KCTD7 | potassium ion transport | 7q11.21 |
| KCTD8 | potassium ion transport | 4p13 |
| KCTD9 | potassium ion transport | 8p21.1 |
| KCTD9P1 | - | 17p11.2 |
| KCTD9P2 | - | Xq22.3 |
| KDELC1 | - | 13q33 |
| KDELC1P1 | - | 5q23.3 |
| KDELC2 | - | 11q22.3 |
| KDELR1 | intracellular protein transport; protein retention in ER lumen; vesicle-mediated transport | 19q13.3 |
| KDELR2 | intracellular protein transport; protein retention in ER lumen; vesicle-mediated transport | 7p22.1 |
| KDELR3 | endoplasmic reticulum unfolded protein response; vesicle-mediated transport; protein transport; activation of signaling protein activity involved in unfolded protein response; protein retention in ER lumen | 22q13.1 |
| KDF1 | - | 1p36.11 |
| KDM1A | negative regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of DNA binding; negative regulation of apoptotic process; histone H3-K4 demethylation; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of sequence-specific DNA binding transcription factor activity; muscle cell development; oxidation-reduction process; blood coagulation; chromatin modification; multicellular organismal development; negative regulation of protein binding; histone H3-K9 demethylation; protein demethylation; regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter | 1p36.12 |
| KDM1B | regulation of DNA methylation; DNA methylation involved in gamete generation; histone H3-K4 demethylation; regulation of transcription, DNA-dependent; multicellular organismal development; regulation of gene expression by genetic imprinting; chromatin modification | 6p22.3 |
| KDM2A | chromatin modification; regulation of transcription, DNA-dependent | 11q13.2 |
| KDM2B | chromatin modification; midbrain-hindbrain boundary morphogenesis; fourth ventricle development; histone demethylation; lateral ventricle development; third ventricle development; initiation of neural tube closure; forebrain development; midbrain development; hindbrain development; histone H2A monoubiquitination; negative regulation of neuron apoptosis; embryonic camera-type eye morphogenesis; negative regulation of neural precursor cell proliferation; spermatogenesis; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 12q24.31 |
| KDM3A | formaldehyde biosynthetic process; positive regulation of transcription, DNA-dependent; histone H3-K9 demethylation; androgen receptor signaling pathway; cell differentiation; chromatin modification; hormone-mediated signaling pathway; spermatogenesis | 2p11.2 |
| KDM3B | regulation of transcription, DNA-dependent; chromatin modification | 5q31 |
| KDM4A | histone H3-K36 demethylation; chromatin modification; histone demethylation; interspecies interaction between organisms; negative regulation of transcription, DNA-dependent | 1p34.1 |
| KDM4A-AS1 | - | 1p34.1 |
| KDM4B | chromatin modification; regulation of transcription, DNA-dependent | 19p13.3 |
| KDM4C | histone H3-K9 demethylation; chromatin modification; positive regulation of cell proliferation; regulation of transcription from RNA polymerase II promoter | 9p24.1 |
| KDM4D | chromatin modification; regulation of transcription, DNA-dependent | 11q21 |
| KDM5A | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; multicellular organismal development; chromatin modification; positive regulation of transcription, DNA-dependent | 12p11 |
| KDM5B | negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; histone H3-K4 demethylation, trimethyl-H3-K4-specific; histone H3-K4 demethylation; chromatin modification | 1q32.1 |
| KDM5C | regulation of transcription, DNA-dependent; chromatin modification; histone H3-K4 demethylation | Xp11.22-p11.21 |
| KDM5D | spermatogenesis; chromatin modification; histone H3-K4 demethylation | Yq11 |
| KDM6A | histone H3-K4 methylation; chromatin modification | Xp11.2 |
| KDM6B | inflammatory response; chromatin modification; histone demethylation; negative regulation of transcription from RNA polymerase II promoter | 17p13.1 |
| KDM7A | chromatin modification; nervous system development; midbrain development; histone H3-K9 demethylation; histone H4-K20 demethylation; positive regulation of transcription, DNA-dependent; histone H3-K36 demethylation; histone H3-K27 demethylation | 7q34 |
| KDM8 | G2/M transition of mitotic cell cycle; cell cycle; chromatin modification; positive regulation of transcription, DNA-dependent; histone H3-K36 demethylation | 16p12.1 |
| KDR | positive regulation of cell proliferation; lung alveolus development; vascular endothelial growth factor signaling pathway; surfactant homeostasis; positive regulation of MAPK cascade; interspecies interaction between organisms; cell fate commitment; endothelial cell differentiation; positive regulation of angiogenesis; protein autophosphorylation; vascular endothelial growth factor receptor signaling pathway; negative regulation of apoptotic process; cell maturation; negative regulation of endothelial cell apoptosis; positive regulation of ERK1 and ERK2 cascade; calcium ion homeostasis; positive regulation of focal adhesion assembly; positive regulation of nitric-oxide synthase biosynthetic process; branching morphogenesis of a tube; positive regulation of positive chemotaxis; multicellular organismal development; angiogenesis; ovarian follicle development; vasculogenesis; positive regulation of endothelial cell proliferation; lymph vessel development; positive regulation of mesenchymal cell proliferation; e | 4q11-q12 |
| KDSR | small molecule metabolic process; sphingolipid biosynthetic process; 3-keto-sphinganine metabolic process; sphingolipid metabolic process | 18q21.3 |
| KEAP1 | regulation of transcription, DNA-dependent; in utero embryonic development; negative regulation of gene expression; cytoplasmic sequestering of transcription factor; regulation of epidermal cell differentiation | 19p13.2 |
| KEL | vasoconstriction; proteolysis | 7q33 |
| KERA | visual perception; response to stimulus | 12q22 |
| KGFLP1 | - | 9p11.2 |
| KGFLP2 | - | 9p12 |
| KHDC1 | - | 6q13 |
| KHDC1L | - | 6q13 |
| KHDC3L | - | 6q13 |
| KHDRBS1 | mRNA processing; cell proliferation; negative regulation of transcription, DNA-dependent; regulation of RNA export from nucleus; cell surface receptor signaling pathway; signal transduction; cell cycle arrest; G2/M transition of mitotic cell cycle; cell cycle | 1p32 |
| KHDRBS2 | regulation of transcription, DNA-dependent | 6q11.1 |
| KHDRBS3 | positive regulation of RNA splicing; spermatogenesis; mRNA processing; regulation of transcription, DNA-dependent | 8q24.2 |
| KHK | response to sucrose stimulus; carbohydrate metabolic process; fructose catabolic process; response to glucose stimulus; response to fructose stimulus; response to zinc ion; response to insulin stimulus; small molecule metabolic process | 2p23.3 |
| KHNYN | - | 14q12 |
| KHSRP | regulation of transcription, DNA-dependent; mRNA transport; mRNA metabolic process; RNA metabolic process; RNA splicing, via transesterification reactions; transport; mRNA processing; gene expression; RNA splicing | 19p13.3 |
| KHSRPP1 | - | 9p21.3 |
| KIAA0040 | - | 1q24-q25 |
| KIAA0100 | - | 17q11.2 |
| KIAA0101 | - | 15q22.31 |
| KIAA0125 | - | 14q32.33 |
| KIAA0141 | regulation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process | 5q31.3 |
| KIAA0196 | cell death | 8q24.13 |
| KIAA0226L | - | 13q14.13 |
| KIAA0232 | - | 4p16.1 |
| KIAA0319 | neuron migration; multicellular organismal development; nervous system development; negative regulation of dendrite development | 6p22.3-p22.2 |
| KIAA0319L | - | 1p34.2 |
| KIAA0355 | - | 19q13.11 |
| KIAA0368 | ER-associated protein catabolic process | 9q31.3 |
| KIAA0391 | tRNA processing | 14q13.2 |
| KIAA0408 | - | 6q22.33 |
| KIAA0430 | negative regulation of phosphatase activity | 16p13.11 |
| KIAA0485 | - | - |
| KIAA0509 | - | - |
| KIAA0513 | - | 16q24.1 |
| KIAA0556 | - | 16p12.1 |
| KIAA0586 | - | 14q23.1 |
| KIAA0753 | - | 17p13.1 |
| KIAA0754 | - | 1p34.3 |
| KIAA0825 | - | 5q15 |
| KIAA0895 | - | 7p14.2 |
| KIAA0895L | - | 16q22.1 |
| KIAA0907 | - | 1q22 |
| KIAA0922 | - | 4q31.3 |
| KIAA0930 | - | 22q13.31 |
| KIAA1024 | - | 15q25.1 |
| KIAA1024L | - | 5q23.3 |
| KIAA1033 | endosome transport | 12q24.11 |
| KIAA1107 | - | 1p22.1 |
| KIAA1109 | regulation of epithelial cell differentiation; regulation of cell growth | 4q27 |
| KIAA1143 | - | 3p21.31 |
| KIAA1147 | - | 7q34 |
| KIAA1161 | carbohydrate metabolic process; positive regulation of protein kinase B signaling cascade; skeletal muscle fiber development; positive regulation of insulin-like growth factor receptor signaling pathway | 9p13.3 |
| KIAA1191 | - | 5q35.2 |
| KIAA1210 | - | Xq24 |
| KIAA1211 | - | 4q12 |
| KIAA1211L | - | 2q11.2 |
| KIAA1217 | embryonic skeletal system development; multicellular organismal development | 10p12.31 |
| KIAA1257 | - | 3q21.3 |
| KIAA1279 | cell differentiation; mitochondrial transport; nervous system development; multicellular organismal development | 10q22.1 |
| KIAA1324 | positive regulation of autophagic vacuole assembly; positive regulation of vacuole organization; regulation of apoptotic process; macroautophagy | 1p13.3 |
| KIAA1324L | - | 7q21.12 |
| KIAA1328 | - | 18q12.2 |
| KIAA1429 | mRNA processing; RNA splicing | 8q22.1 |
| KIAA1456 | metabolic process | 8p22 |
| KIAA1462 | cell adhesion | 10p11.23 |
| KIAA1468 | - | 18q21.33 |
| KIAA1522 | - | 1p35.1 |
| KIAA1524 | - | 3q13.13 |
| KIAA1549 | - | 7q34 |
| KIAA1549L | - | 11p13 |
| KIAA1551 | - | 12p11.21 |
| KIAA1586 | - | 6p12.1 |
| KIAA1614 | - | 1q25.3 |
| KIAA1644 | - | - |
| KIAA1652 | - | - |
| KIAA1654 | - | - |
| KIAA1656 | - | - |
| KIAA1661 | - | - |
| KIAA1671 | - | 22q11.23 |
| KIAA1683 | - | 19p13.1 |
| KIAA1715 | multicellular organismal development; blood coagulation; embryonic forelimb morphogenesis; embryonic digit morphogenesis; limb development | 2q31 |
| KIAA1755 | - | 20q11.23 |
| KIAA1804 | - | 1q42 |
| KIAA1841 | - | 2q14 |
| KIAA1919 | sodium ion transport; ion transport; carbohydrate transport; transmembrane transport | 6q22 |
| KIAA1958 | - | 9q32 |
| KIAA2012 | - | 2q33.1 |
| KIAA2013 | - | 1p36.22 |
| KIAA2022 | DNA replication, removal of RNA primer; regulation of mitotic cell cycle; nucleotide-excision repair, DNA gap filling; DNA replication proofreading; base-excision repair, gap-filling; S phase of mitotic cell cycle | Xq13.3 |
| KIAA2026 | - | 9p24.1 |
| KIDINS220 | nerve growth factor receptor signaling pathway; activation of MAPKK activity | 2p24 |
| KIF11 | microtubule-based movement; spindle assembly involved in mitosis; cell division; blood coagulation; mitotic centrosome separation; mitosis; mitotic spindle organization; spindle organization; cell cycle | 10q24.1 |
| KIF12 | microtubule-based movement | 9q32 |
| KIF13A | melanosome organization; cytokinesis; intracellular protein transport; microtubule-based movement; cell cycle; endosome to lysosome transport; Golgi to plasma membrane protein transport; plus-end-directed vesicle transport along microtubule; cargo loading into vesicle | 6p23 |
| KIF13B | regulation of axonogenesis; protein targeting; microtubule-based movement; signal transduction; T cell activation | 8p12 |
| KIF14 | microtubule-based movement | 1q32.1 |
| KIF15 | microtubule-based movement; mitosis; blood coagulation; cell proliferation | 3p21.31 |
| KIF16B | endoderm development; Golgi to endosome transport; receptor catabolic process; fibroblast growth factor receptor signaling pathway; early endosome to late endosome transport; epidermal growth factor receptor signaling pathway; cell communication; microtubule-based movement; transport; regulation of receptor recycling; formation of primary germ layer | 20p11.23 |
| KIF17 | metabolic process; vesicle-mediated transport; microtubule-based movement; protein transport; protein complex localization | 1p36.12 |
| KIF18A | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; microtubule-based movement; microtubule depolymerization; mitotic metaphase plate congression; blood coagulation; protein transport | 11p14.1 |
| KIF18B | microtubule-based movement; mitotic cell cycle; mitosis; regulation of cell division | 17q21.31 |
| KIF19 | microtubule-based movement | 17q25.1 |
| KIF1A | cell death; microtubule-based movement; anterograde axon cargo transport | 2q37.3 |
| KIF1B | ATP catabolic process; cytoskeleton-dependent intracellular transport; anterograde axon cargo transport; neuromuscular synaptic transmission; neuron-neuron synaptic transmission; microtubule-based movement; apoptotic process | 1p36.2 |
| KIF1C | microtubule-based movement; retrograde vesicle-mediated transport, Golgi to ER | 17p13.2 |
| KIF20A | M phase of mitotic cell cycle; microtubule bundle formation; microtubule-based movement; protein transport; cytokinesis; mitotic cell cycle; vesicle-mediated transport | 5q31 |
| KIF20B | cell division; regulation of mitosis; cell cycle arrest; cell cycle; microtubule-based movement; ATP catabolic process; M phase of mitotic cell cycle | 10q23.31 |
| KIF21A | microtubule-based movement | 12q12 |
| KIF21B | microtubule-based movement | 1q32.1 |
| KIF22 | DNA repair; microtubule-based movement; mitosis; blood coagulation | 16p11.2 |
| KIF23 | mitotic spindle elongation; M phase of mitotic cell cycle; mitotic cell cycle; cytokinesis; microtubule-based movement; positive regulation of cell cycle cytokinesis; spindle midzone assembly involved in mitosis; cell cycle cytokinesis; blood coagulation; mitosis | 15q23 |
| KIF24 | microtubule-based movement | 9p13.3 |
| KIF25 | organelle organization; microtubule-based movement; mitotic sister chromatid segregation | 6q27 |
| KIF25-AS1 | - | 6q27 |
| KIF26A | regulation of cell growth by extracellular stimulus; microtubule-based movement; blood coagulation; negative regulation of signal transduction; enteric nervous system development | 14q32.33 |
| KIF26B | ureteric bud invasion; microtubule-based movement; multicellular organismal development; positive regulation of cell-cell adhesion; establishment of cell polarity | 1q44 |
| KIF27 | cell projection organization; microtubule-based movement; cilium assembly | 9q21.32 |
| KIF2A | blood coagulation; cell differentiation; cell division; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; microtubule-based movement; mitotic spindle organization; multicellular organismal development; nervous system development | 5q12-q13 |
| KIF2C | mitosis; mitotic prometaphase; cell division; regulation of chromosome segregation; establishment or maintenance of microtubule cytoskeleton polarity; cell proliferation; blood coagulation; M phase of mitotic cell cycle; mitotic cell cycle; microtubule-based movement; microtubule depolymerization | 1p34.1 |
| KIF3A | organelle organization; microtubule-based movement; blood coagulation; cell projection organization; cilium assembly; plus-end-directed vesicle transport along microtubule | 5q31 |
| KIF3B | determination of left/right symmetry; spindle assembly involved in mitosis; plus-end-directed vesicle transport along microtubule; anterograde axon cargo transport; blood coagulation; mitotic centrosome separation; mitotic spindle organization; microtubule-based movement | 20q11.21 |
| KIF3C | microtubule-based movement; blood coagulation | 2p23 |
| KIF4A | anterograde axon cargo transport; blood coagulation; axon guidance; microtubule-based movement; organelle organization | Xq13.1 |
| KIF4CP | - | Xq21.1 |
| KIF5A | cell death; microtubule-based movement; blood coagulation; synaptic transmission | 12q13.13 |
| KIF5B | microtubule-based movement; vesicle transport along microtubule; stress granule disassembly; cytoplasm organization | 10p11.22 |
| KIF5C | motor axon guidance; microtubule-based movement; organelle organization | 2q23.1 |
| KIF6 | microtubule-based movement | 6p21.2 |
| KIF7 | positive regulation of smoothened signaling pathway; microtubule-based movement; negative regulation of smoothened signaling pathway | 15q26.1 |
| KIF9 | microtubule-based movement; blood coagulation | 3p21.31 |
| KIF9-AS1 | - | 3p21.31 |
| KIFAP3 | blood coagulation; protein localization; negative regulation of cell proliferation; microtubule-based movement; microtubule-based process; protein complex assembly; signal transduction; plus-end-directed vesicle transport along microtubule; positive regulation of calcium-dependent cell-cell adhesion | 1q24.2 |
| KIFC1 | cell cycle; microtubule-based movement; mitotic sister chromatid segregation; blood coagulation; cell division | 6p21.3 |
| KIFC2 | microtubule-based movement | 8q24.3 |
| KIFC3 | zonula adherens maintenance; microtubule-based movement; Golgi organization; visual perception; epithelial cell-cell adhesion | 16q13-q21 |
| KIN | DNA replication; interspecies interaction between organisms; response to stress; response to DNA damage stimulus; DNA repair; DNA recombination; mRNA processing | 10p15-p14 |
| KIR2DL1 | natural killer cell inhibitory signaling pathway; immune response; regulation of immune response | 19q13.4 |
| KIR2DL2 | regulation of immune response | 19q13.4 |
| KIR2DL3 | immune response; regulation of immune response | 19q13.4 |
| KIR2DL4 | cellular defense response; signal transduction; regulation of immune response | 19q13.4 |
| KIR2DL5A | - | 19p13.3 |
| KIR2DP1 | - | 19q13.4 |
| KIR2DS1 | immune response; regulation of immune response | 19q13.4 |
| KIR2DS2 | immune response; regulation of immune response | 19q13.4 |
| KIR2DS3 | cellular defense response | 19q13.4 |
| KIR2DS4 | - | 19q13.4 |
| KIR2DS5 | immune response | 19q13.4 |
| KIR3DL1 | immune response; regulation of immune response | 19q13.4 |
| KIR3DL2 | cellular defense response; regulation of immune response | 19q13.4 |
| KIR3DL3 | - | 19q13.42 |
| KIR3DS1 | immune response; natural killer cell activation | 19q13.4 |
| KIR3DX1 | - | 19q13.42 |
| KIRREL | excretion | 1q21-q25 |
| KIRREL-IT1 | - | 1q23.1 |
| KIRREL2 | cell adhesion | 19q13.12 |
| KIRREL3 | hemopoiesis | 11q24 |
| KIRREL3-AS3 | - | 11q24.2 |
| KISS1 | cytoskeleton organization; G-protein coupled receptor signaling pathway; negative regulation of cell proliferation; negative regulation of cell migration | 1q32 |
| KISS1R | positive regulation of synaptic transmission; positive regulation of stress fiber assembly; arachidonic acid secretion; positive regulation of hormone secretion; negative regulation of cell migration; calcium-mediated signaling; negative regulation of cell proliferation; behavior; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; activation of MAPKK activity | 19p13.3 |
| KIT | male gonad development; positive regulation of phosphatidylinositol 3-kinase cascade; positive regulation of phospholipase C activity; positive regulation of gene expression; response to radiation; hemopoiesis; peptidyl-tyrosine phosphorylation; cytokine-mediated signaling pathway; stem cell maintenance; signal transduction by phosphorylation; spermatid development; positive regulation of cell proliferation; spermatogenesis; intracellular protein kinase cascade; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; activation of MAPK activity; myeloid progenitor cell differentiation; lymphoid progenitor cell differentiation; glycosphingolipid metabolic process; mast cell proliferation; germ cell programmed cell death; positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of JAK-STAT cascade; protein autophosphorylation; regulation of developmental pigmentation; positive regulation of sequence-specific DNA binding transcription factor activity; mast | 4q11-q12 |
| KITLG | negative regulation of apoptotic process; ovarian follicle development; neural crest cell migration; positive regulation of myeloid leukocyte differentiation; cell adhesion; signal transduction; cell proliferation; positive regulation of cell proliferation; male gonad development; hemopoiesis; negative regulation of mast cell apoptosis; embryonic hemopoiesis; germ cell programmed cell death; positive regulation of mast cell proliferation; positive regulation of MAP kinase activity; positive regulation of melanocyte differentiation; positive regulation of DNA replication; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of Ras protein signal transduction | 12q22 |
| KIZ | spindle organization | 20p11.23 |
| KL | carbohydrate metabolic process; positive regulation of bone mineralization; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; aging; energy reserve metabolic process; acute inflammatory response | 13q12 |
| KLB | insulin receptor signaling pathway; positive regulation of cell proliferation; fibroblast growth factor receptor signaling pathway; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway; carbohydrate metabolic process | 4p14 |
| KLC1 | microtubule-based movement; blood coagulation; stress granule disassembly | 14q32.3 |
| KLC2 | microtubule-based movement; axon cargo transport; blood coagulation | 11q13.2 |
| KLC3 | metabolic process | 19q13 |
| KLC4 | - | 6p21.1 |
| KLF1 | erythrocyte maturation; positive regulation of transcription, DNA-dependent; embryonic hemopoiesis; erythrocyte differentiation; regulation of transcription, DNA-dependent; chromatin remodeling; liver development; in utero embryonic development | 19p13.2 |
| KLF10 | positive regulation of osteoclast differentiation; bone mineralization; negative regulation of cell proliferation; somatic stem cell maintenance; cell proliferation; cell-cell signaling; transforming growth factor beta receptor signaling pathway; induction of apoptosis; skeletal system development; negative regulation of transcription from RNA polymerase II promoter | 8q22.2 |
| KLF11 | regulation of transcription involved in S phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; negative regulation of cell proliferation; positive regulation of apoptotic process | 2p25 |
| KLF12 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter | 13q22 |
| KLF13 | negative regulation of cell proliferation; transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; negative regulation of erythrocyte differentiation | 15q12 |
| KLF14 | regulation of transcription, DNA-dependent | 7q32.3 |
| KLF15 | glial cell differentiation; glucose transport; positive regulation of transcription from RNA polymerase II promoter | 3q21.3 |
| KLF16 | dopamine receptor signaling pathway; regulation of transcription from RNA polymerase II promoter | 19p13.3 |
| KLF17 | gamete generation; regulation of transcription from RNA polymerase II promoter | 1p34.1 |
| KLF2 | positive regulation of protein metabolic process; cellular response to tumor necrosis factor; cellular response to interleukin-1; cellular response to hydrogen peroxide; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; erythrocyte maturation; multicellular organism growth; response to laminar fluid shear stress; erythrocyte homeostasis; negative regulation of interleukin-6 production; in utero embryonic development; cell morphogenesis | 19p13.11 |
| KLF3 | multicellular organismal development; regulation of transcription, DNA-dependent | 4p14 |
| KLF3-AS1 | - | 4p14 |
| KLF3P1 | - | 5q35.1 |
| KLF3P2 | - | 3q |
| KLF4 | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; epidermal cell differentiation; mesodermal cell fate determination; positive regulation of transcription from RNA polymerase II promoter; cellular response to growth factor stimulus; negative regulation of ERK1 and ERK2 cascade; negative regulation of response to cytokine stimulus; negative regulation of protein kinase B signaling cascade; positive regulation of protein metabolic process; post-embryonic camera-type eye development; negative regulation of inflammatory response; epidermis morphogenesis; negative regulation of cell migration involved in sprouting angiogenesis; negative regulation of chemokine (C-X-C motif) ligand 2 production; negative regulation of NF-kappaB transcription factor activity; negative regulation of cell proliferation; negative regulation of smooth muscle cell proliferation; positive regulation of hemoglobin biosynthetic pro | 9q31 |
| KLF5 | microvillus assembly; positive regulation of transcription, DNA-dependent; angiogenesis; positive regulation of cell proliferation; transcription from RNA polymerase II promoter | 13q22.1 |
| KLF6 | B cell differentiation; cytokine-mediated signaling pathway; regulation of transcription, DNA-dependent; wound healing; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 10p15 |
| KLF7 | regulation of transcription from RNA polymerase II promoter; axon guidance; positive regulation of transcription, DNA-dependent; dendrite morphogenesis | 2q32 |
| KLF7-IT1 | - | - |
| KLF7P1 | - | 3q26.2 |
| KLF8 | regulation of transcription, DNA-dependent | Xp11.21 |
| KLF9 | cellular response to thyroid hormone stimulus; regulation of transcription from RNA polymerase II promoter; embryo implantation; progesterone receptor signaling pathway | 9q13 |
| KLHDC1 | - | 14q21.3 |
| KLHDC10 | - | 7q32.2 |
| KLHDC2 | - | 14q21.3 |
| KLHDC3 | endoplasmic reticulum unfolded protein response; meiosis; reciprocal meiotic recombination; activation of signaling protein activity involved in unfolded protein response | 6p21.1 |
| KLHDC4 | - | 16q24.3 |
| KLHDC7A | - | 1p36.13 |
| KLHDC7B | - | 22q13.33 |
| KLHDC8A | - | 1q32.1 |
| KLHDC8B | - | 3p21.31 |
| KLHDC9 | - | 1q23.3 |
| KLHL1 | adult walking behavior; locomotory behavior; actin cytoskeleton organization; cerebellar Purkinje cell layer development; dendrite development | 13q21 |
| KLHL11 | - | 17q21.2 |
| KLHL12 | Wnt receptor signaling pathway | 1q32.1 |
| KLHL13 | mitosis; cell cycle; cytokinesis; protein ubiquitination | Xq23-q24 |
| KLHL14 | - | 18q12.1 |
| KLHL15 | - | Xp22.1-p21 |
| KLHL17 | actin cytoskeleton organization; brain development | 1p36.33 |
| KLHL18 | - | 3p21.31 |
| KLHL2 | intracellular protein transport | 4q21.2 |
| KLHL20 | protein ubiquitination; proteasomal ubiquitin-dependent protein catabolic process; negative regulation of apoptotic process; response to interferon-alpha; cytoskeleton organization | 1q25.1 |
| KLHL21 | anaphase; cytokinesis; cell cycle; mitosis; protein ubiquitination | 1p36.31 |
| KLHL22 | cell division | 22q11.21 |
| KLHL22-IT1 | - | - |
| KLHL23 | - | 2q31.1 |
| KLHL24 | - | 3q27.1 |
| KLHL25 | - | 15q25.3 |
| KLHL26 | - | 19p13.11 |
| KLHL28 | - | 14q21.2 |
| KLHL29 | - | 2p24.1 |
| KLHL3 | - | 5q31 |
| KLHL30 | - | 2q37.3 |
| KLHL30-AS1 | - | 2q37.3 |
| KLHL31 | regulation of transcription, DNA-dependent | 6p12.1 |
| KLHL32 | - | 6q16.1 |
| KLHL33 | - | 14q11.2 |
| KLHL35 | - | 11q13.4 |
| KLHL36 | - | 16q24.1 |
| KLHL38 | - | 8q24.13 |
| KLHL4 | - | Xq21.3 |
| KLHL40 | - | 3p22.1 |
| KLHL41 | - | 2q31.1 |
| KLHL42 | - | 12p11.22 |
| KLHL5 | - | 4p14 |
| KLHL6 | germinal center formation; B cell receptor signaling pathway | 3q27.3 |
| KLHL7 | - | 7p15.3 |
| KLHL7-AS1 | - | 7p15.3 |
| KLHL8 | - | 4q22.1 |
| KLHL9 | cell cycle; protein ubiquitination; cytokinesis; mitosis | 9p22 |
| KLK1 | proteolysis | 19q13.3 |
| KLK10 | cell cycle; proteolysis | 19q13 |
| KLK11 | proteolysis | 19q13.33 |
| KLK12 | proteolysis | 19q13.33 |
| KLK13 | protein processing; proteolysis | 19q13.33 |
| KLK15 | proteolysis | 19q13.41 |
| KLK2 | proteolysis | 19q13.41 |
| KLK3 | proteolysis; negative regulation of angiogenesis | 19q13.41 |
| KLK4 | proteolysis | 19q13.41 |
| KLK5 | proteolysis; positive regulation of G-protein coupled receptor protein signaling pathway; epidermis development | 19q13.33 |
| KLK6 | tissue regeneration; hormone metabolic process; myelination; amyloid precursor protein metabolic process; collagen catabolic process; protein autoprocessing; response to wounding; positive regulation of G-protein coupled receptor protein signaling pathway; central nervous system development; proteolysis; regulation of cell differentiation | 19q13.3 |
| KLK7 | epidermis development; proteolysis | 19q13.41 |
| KLK8 | regulation of synapse organization; neuron projection morphogenesis; negative regulation of axon regeneration; keratinocyte proliferation; negative regulation of myelination; response to wounding; cell death; memory; proteolysis | 19q13 |
| KLK9 | proteolysis | 19q13.41 |
| KLKB1 | Factor XII activation; proteolysis; inflammatory response; blood coagulation; blood coagulation, intrinsic pathway; zymogen activation; plasminogen activation; positive regulation of fibrinolysis | 4q35 |
| KLLN | cell cycle; apoptotic process | 10q23 |
| KLRAP1 | - | 12p13.2 |
| KLRC1 | cell surface receptor signaling pathway; regulation of immune response | 12p13 |
| KLRC2 | cellular defense response; signal transduction | 12p13 |
| KLRC3 | cellular defense response | 12p13 |
| KLRC4 | cellular defense response | 12p13.2-p12.3 |
| KLRD1 | cell surface receptor signaling pathway; regulation of immune response | 12p13 |
| KLRF1 | cell surface receptor signaling pathway | 12p13.31 |
| KLRG1 | cell surface receptor signaling pathway; cellular defense response; innate immune response; regulation of immune response; inflammatory response | 12p13.31 |
| KLRG2 | - | 7q34 |
| KLRK1 | - | 12p13.2-p12.3 |
| KMO | tryptophan catabolic process; kynurenine metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; NAD metabolic process; tryptophan catabolic process to kynurenine; pyridine nucleotide biosynthetic process; response to salt stress | 1q42-q44 |
| KMT2A | - | 11q23 |
| KMT2B | - | 19q13.1 |
| KMT2C | - | 7q36.1 |
| KMT2D | - | 12q13.12 |
| KMT2E | - | 7q22.1 |
| KMT2E-AS1 | - | 7q22.3 |
| KMT5A | negative regulation of transcription, DNA-dependent; cell cycle; mitosis; negative regulation of transcription from RNA polymerase II promoter; regulation of DNA damage response, signal transduction by p53 class mediator; histone lysine methylation; cell division; peptidyl-lysine monomethylation; chromatin modification | 12q24.31 |
| KMT5B | regulation of transcription, DNA-dependent; histone lysine methylation; peptidyl-lysine methylation; chromatin modification | 11q13.2 |
| KMT5C | peptidyl-lysine methylation; chromatin modification; regulation of transcription, DNA-dependent; histone methylation | 19q13.42 |
| KNCN | - | 1p33 |
| KNDC1 | cerebellar granule cell differentiation; regulation of dendrite morphogenesis; regulation of small GTPase mediated signal transduction; protein phosphorylation; regulation of catalytic activity | 10q26.3 |
| KNG1 | negative regulation of blood coagulation; platelet degranulation; smooth muscle contraction; inflammatory response; negative regulation of cell adhesion; elevation of cytosolic calcium ion concentration; blood coagulation; blood coagulation, intrinsic pathway; platelet activation; positive regulation of urine volume; positive regulation of renal sodium excretion; vasodilation; positive regulation of apoptotic process | 3q27 |
| KNOP1 | - | 16p12.3 |
| KNOP1P1 | - | 12p12.1 |
| KNOP1P4 | - | - |
| KNSTRN | - | 15q15.1 |
| KNTC1 | cell division; regulation of exit from mitosis; M phase of mitotic cell cycle; mitotic cell cycle checkpoint; protein complex assembly; mitotic cell cycle; mitotic prometaphase | 12q24.31 |
| KPNA1 | apoptotic process; viral genome transport in host cell; NLS-bearing substrate import into nucleus; DNA fragmentation involved in apoptotic nuclear change; viral reproduction; regulation of DNA recombination; interspecies interaction between organisms; viral infectious cycle; cellular component disassembly involved in apoptosis; cytokine-mediated signaling pathway | 3q21 |
| KPNA2 | regulation of DNA recombination; M phase specific microtubule process; G2 phase of mitotic cell cycle; DNA metabolic process; NLS-bearing substrate import into nucleus; cytokine-mediated signaling pathway; interspecies interaction between organisms | 17q24.2 |
| KPNA3 | protein complex assembly; NLS-bearing substrate import into nucleus; cytokine-mediated signaling pathway; interspecies interaction between organisms | 13q14.3 |
| KPNA4 | NLS-bearing substrate import into nucleus; cytokine-mediated signaling pathway | 3q25.33 |
| KPNA5 | protein import into nucleus; NLS-bearing substrate import into nucleus; cytokine-mediated signaling pathway | 6q22.1 |
| KPNA6 | NLS-bearing substrate import into nucleus | 1p35.1 |
| KPNA7 | protein import into nucleus; cytokine-mediated signaling pathway | 7q22.1 |
| KPNB1 | DNA fragmentation involved in apoptotic nuclear change; interspecies interaction between organisms; protein import into nucleus, translocation; protein import into nucleus; NLS-bearing substrate import into nucleus; ribosomal protein import into nucleus; apoptotic process; cellular component disassembly involved in apoptosis; viral reproduction; viral infectious cycle; cytokine-mediated signaling pathway; viral genome transport in host cell | 17q21.32 |
| KPRP | - | 1q21.3 |
| KPTN | sensory perception of sound; cellular component movement; actin filament organization | 19q13.32 |
| KRAS | positive regulation of nitric-oxide synthase activity; nerve growth factor receptor signaling pathway; regulation of long-term neuronal synaptic plasticity; leukocyte migration; positive regulation of NF-kappaB transcription factor activity; striated muscle cell differentiation; response to glucocorticoid stimulus; response to mineralocorticoid stimulus; positive regulation of MAP kinase activity; negative regulation of neuron apoptosis; MAPK cascade; activation of MAPKK activity; positive regulation of protein phosphorylation; signal transduction; epidermal growth factor receptor signaling pathway; small GTPase mediated signal transduction; axon guidance; blood coagulation; positive regulation of cell proliferation; insulin receptor signaling pathway; visual learning; fibroblast growth factor receptor signaling pathway; Ras protein signal transduction; positive regulation of gene expression; cytokine-mediated signaling pathway; actin cytoskeleton organization; regulation of synaptic transmission, GABAergic; | 12p12.1 |
| KRASP1 | - | 6p12.1 |
| KRBA1 | - | 7q36 |
| KRBA2 | DNA integration; regulation of transcription, DNA-dependent | 17p13.1 |
| KRBOX1 | regulation of transcription, DNA-dependent | 3p22.1 |
| KRBOX4 | - | Xp11.3 |
| KRCC1 | - | 2p11.2 |
| KREMEN1 | cell communication; Wnt receptor signaling pathway; regulation of canonical Wnt receptor signaling pathway | 22q12.1 |
| KREMEN2 | Wnt receptor signaling pathway | 16p13.3 |
| KRI1 | - | 19p13.2 |
| KRIT1 | regulation of establishment of cell polarity; positive regulation of protein binding; negative regulation of angiogenesis; negative regulation of endothelial cell migration; small GTPase mediated signal transduction; negative regulation of endothelial cell proliferation; cell redox homeostasis; negative regulation of endothelial cell apoptosis | 7q21.2 |
| KRR1 | rRNA processing | 12q21.2 |
| KRT1 | epidermis development; fibrinolysis; regulation of angiogenesis; complement activation, lectin pathway; response to oxidative stress | 12q13.13 |
| KRT10 | epidermis development; keratinocyte differentiation; cellular response to calcium ion | 17q21 |
| KRT12 | visual perception | 17q12 |
| KRT121P | - | 12q13 |
| KRT126P | - | 12q13.13 |
| KRT13 | epidermis development; response to radiation; tongue morphogenesis; cellular response to retinoic acid | 17q21.2 |
| KRT14 | intermediate filament bundle assembly; cell junction assembly; hemidesmosome assembly; response to ionizing radiation; response to zinc ion; epithelial cell differentiation; epidermis development | 17q21.2 |
| KRT15 | epidermis development | 17q21.2 |
| KRT16 | cytoskeleton organization; cell proliferation; epidermis development; intermediate filament cytoskeleton organization | 17q21.2 |
| KRT16P1 | - | 17p11.2 |
| KRT16P2 | - | 17p11.2 |
| KRT16P4 | - | 17p11.2 |
| KRT17P1 | - | 17p11.2 |
| KRT17P2 | - | 17p11.2 |
| KRT17P3 | - | 17q11.2 |
| KRT17P5 | - | 17p11.2 |
| KRT18 | anatomical structure morphogenesis; tumor necrosis factor-mediated signaling pathway; Golgi to plasma membrane CFTR protein transport; negative regulation of apoptotic process; interspecies interaction between organisms; cell cycle | 12q13 |
| KRT18P1 | - | 6p21.2 |
| KRT18P10 | - | Yp11.2 |
| KRT18P11 | - | Xq21.31 |
| KRT18P12 | - | 1q41 |
| KRT18P13 | - | 9q22.33 |
| KRT18P14 | - | 11p13 |
| KRT18P15 | - | 3p22.3 |
| KRT18P16 | - | 5q23.2 |
| KRT18P17 | - | 3p25.2 |
| KRT18P18 | - | 16q22.2 |
| KRT18P19 | - | 2q32.2 |
| KRT18P2 | - | 21q21.1 |
| KRT18P20 | - | 12q23.3 |
| KRT18P21 | - | 4q26 |
| KRT18P22 | - | 6q22.1 |
| KRT18P23 | - | 22q13.31 |
| KRT18P24 | - | 9q21.31 |
| KRT18P25 | - | 4p14 |
| KRT18P28 | - | 1q25.3 |
| KRT18P29 | - | 2q31.3 |
| KRT18P3 | - | 20p11.21 |
| KRT18P31 | - | 5p13.2 |
| KRT18P32 | - | 1q43 |
| KRT18P33 | - | 2p14 |
| KRT18P34 | - | 3q25.31 |
| KRT18P35 | - | 3q23 |
| KRT18P36 | - | 9p21.1 |
| KRT18P37 | - | 8p11.21 |
| KRT18P38 | - | 6p22.3 |
| KRT18P39 | - | 2q33.2 |
| KRT18P4 | - | 20q13.13 |
| KRT18P40 | - | 19p12 |
| KRT18P41 | - | 5q35.1 |
| KRT18P42 | - | 5q21.3 |
| KRT18P43 | - | 3q26.2 |
| KRT18P44 | - | Xq25 |
| KRT18P45 | - | 5q14.1 |
| KRT18P46 | - | 2q24.2 |
| KRT18P47 | - | 15q26.1 |
| KRT18P48 | - | Xq28 |
| KRT18P49 | - | Xq22.3 |
| KRT18P5 | - | 22q11.21 |
| KRT18P51 | - | 4q31.21 |
| KRT18P52 | - | - |
| KRT18P55 | - | 17q11.2 |
| KRT18P57 | - | 1p13.2 |
| KRT18P58 | - | 11p15.4 |
| KRT18P59 | - | 11q24.2 |
| KRT18P6 | - | 14q13.2 |
| KRT18P61 | - | - |
| KRT18P62 | - | 22q11.21 |
| KRT18P63 | - | 4p15.31 |
| KRT18P65 | - | 6q21 |
| KRT18P66 | - | 9p21.1 |
| KRT18P67 | - | - |
| KRT18P68 | - | Xp11.3 |
| KRT18P8 | - | 18p11.22 |
| KRT18P9 | - | 6p21.31 |
| KRT19 | cell differentiation involved in embryonic placenta development; interspecies interaction between organisms; sarcomere organization; response to estrogen stimulus | 17q21.2 |
| KRT19P1 | - | 6q13 |
| KRT19P2 | - | 12q22 |
| KRT19P3 | - | 4q25 |
| KRT19P4 | - | 10q21.3 |
| KRT2 | epidermis development; keratinization; keratinocyte activation; keratinocyte proliferation; keratinocyte migration | 12q13.13 |
| KRT20 | apoptotic process; regulation of protein secretion; intermediate filament organization; cellular response to stress | 17q21.2 |
| KRT222 | - | 17q21.2 |
| KRT223P | - | 17q21.2 |
| KRT23 | - | 17q21.2 |
| KRT24 | - | 17q21.2 |
| KRT25 | intermediate filament organization; hair follicle morphogenesis | 17q21.2 |
| KRT26 | - | 17q21.2 |
| KRT27 | hair follicle morphogenesis | 17q21.2 |
| KRT28 | - | 17q21.2 |
| KRT3 | cytoskeleton organization; epithelial cell differentiation; intermediate filament cytoskeleton organization | 12q13.13 |
| KRT31 | epidermis development | 17q21.2 |
| KRT32 | epidermis development | 17q21.2 |
| KRT33A | - | 17q21.2 |
| KRT33B | - | 17q21.2 |
| KRT34 | epidermis development | 17q21.2 |
| KRT35 | anatomical structure morphogenesis | 17q21.2 |
| KRT37 | - | 17q21.2 |
| KRT38 | - | 17q21.2 |
| KRT39 | - | 17q21.2 |
| KRT4 | negative regulation of epithelial cell proliferation; epithelial cell differentiation; cytoskeleton organization | 12q13.13 |
| KRT40 | - | 17q21.2 |
| KRT41P | - | 17q21.2 |
| KRT42P | - | 17q21.2 |
| KRT5 | cell junction assembly; hemidesmosome assembly; epidermis development | 12q13.13 |
| KRT6A | cell differentiation; positive regulation of cell proliferation; ectoderm development | 12q13.13 |
| KRT6B | ectoderm development | 12q13.13 |
| KRT6C | cytoskeleton organization | 12q13.13 |
| KRT7 | interphase; interspecies interaction between organisms; cytoskeleton organization; regulation of translation; DNA replication | 12q13.13 |
| KRT71 | hair follicle morphogenesis | 12q13.13 |
| KRT72 | - | 12q13.13 |
| KRT73 | - | 12q13.3 |
| KRT74 | - | 12q13.13 |
| KRT75 | - | 12q13 |
| KRT76 | cytoskeleton organization | 12q13.13 |
| KRT77 | - | 12q13.13 |
| KRT78 | - | 12q13.13 |
| KRT79 | - | 12q13.13 |
| KRT8 | interspecies interaction between organisms; cytoskeleton organization | 12q13 |
| KRT80 | - | 12q13.13 |
| KRT81 | - | 12q13 |
| KRT82 | - | 12q13 |
| KRT83 | epidermis development | 12q13 |
| KRT84 | regulation of keratinocyte differentiation; hair follicle development; nail development | 12q13 |
| KRT85 | epidermis development | 12q13 |
| KRT86 | cytoskeleton organization | 12q13 |
| KRT8P1 | - | 14q21.1 |
| KRT8P10 | - | 2q32.1 |
| KRT8P11 | - | 9q22.33 |
| KRT8P12 | - | 3q25.33 |
| KRT8P13 | - | 3q26.2 |
| KRT8P14 | - | Xp11.3 |
| KRT8P15 | - | 2q33.1 |
| KRT8P17 | - | Xp11.21 |
| KRT8P19 | - | 12q14.1 |
| KRT8P2 | - | 14q21.2 |
| KRT8P20 | - | 7p14.1 |
| KRT8P21 | - | 1p31.1 |
| KRT8P22 | - | 16q23.1 |
| KRT8P23 | - | 15q24.3 |
| KRT8P24 | - | 15q21.1 |
| KRT8P25 | - | 3p11.2 |
| KRT8P26 | - | 11q13.1 |
| KRT8P27 | - | Xq11.2 |
| KRT8P28 | - | 1q21.3 |
| KRT8P29 | - | 1q32.1 |
| KRT8P3 | - | 8q12.3 |
| KRT8P30 | - | 2q35 |
| KRT8P31 | - | 5q12.1 |
| KRT8P32 | - | 5q15 |
| KRT8P33 | - | - |
| KRT8P34 | - | - |
| KRT8P35 | - | - |
| KRT8P36 | - | - |
| KRT8P37 | - | 10p14 |
| KRT8P38 | - | - |
| KRT8P39 | - | - |
| KRT8P40 | - | - |
| KRT8P41 | - | 11p15.4 |
| KRT8P42 | - | - |
| KRT8P43 | - | 6p22.3 |
| KRT8P44 | - | 6q26 |
| KRT8P45 | - | 1q23.1 |
| KRT8P46 | - | - |
| KRT8P47 | - | 1p34.1 |
| KRT8P48 | - | - |
| KRT8P49 | - | 11p15.4 |
| KRT8P5 | - | 18q12.3 |
| KRT8P6 | - | Xq26.3 |
| KRT8P7 | - | 11q23.3 |
| KRT8P8 | - | Xq28 |
| KRT8P9 | - | 15q23 |
| KRT9 | spermatogenesis; epidermis development; skin development; intermediate filament organization | 17q21.2 |
| KRTAP1-1 | - | 17q12 |
| KRTAP1-4 | - | 17q21.2 |
| KRTAP1-5 | - | 17q21.2 |
| KRTAP10-1 | - | 21q22.3 |
| KRTAP10-10 | - | 21q22.3 |
| KRTAP10-11 | - | 21q22.3 |
| KRTAP10-3 | - | 21q22.3 |
| KRTAP10-4 | - | 21q22.3 |
| KRTAP10-7 | - | 21q22.3 |
| KRTAP10-8 | - | 21q22.3 |
| KRTAP10-9 | - | 21q22.3 |
| KRTAP11-1 | - | 21q22.1 |
| KRTAP12-4 | - | 21q22.3 |
| KRTAP13-3 | - | 21q22.1 |
| KRTAP13-5P | - | 21q22.1 |
| KRTAP19-1 | - | 21q22.1 |
| KRTAP19-2 | - | 21q22.1 |
| KRTAP19-4 | - | 21q22.1 |
| KRTAP19-5 | - | 21q22.1 |
| KRTAP19-8 | - | 21q22.11 |
| KRTAP2-1 | - | 17q21.2 |
| KRTAP2-2 | - | 17q21.2 |
| KRTAP20-1 | - | 21q22.1 |
| KRTAP20-3 | - | 21q22.11 |
| KRTAP21-1 | - | 21q22.1 |
| KRTAP21-2 | - | 21q22.1 |
| KRTAP21-4P | - | 21q22.1 |
| KRTAP22-1 | - | 21q22.1 |
| KRTAP27-1 | - | 21q22.11 |
| KRTAP3-1 | - | 17q21.2 |
| KRTAP3-2 | - | 17q21.2 |
| KRTAP3-3 | - | 17q21.2 |
| KRTAP4-1 | - | 17q21.2 |
| KRTAP4-11 | - | 17q21.2 |
| KRTAP4-2 | - | 17q21.2 |
| KRTAP4-3 | - | 17q21.2 |
| KRTAP4-6 | - | 17q21.2 |
| KRTAP4-7 | - | 17q21.2 |
| KRTAP4-8 | - | 17q21.2 |
| KRTAP4-9 | - | 17q21.2 |
| KRTAP5-1 | - | 11p15.5 |
| KRTAP5-11 | - | 11q13.4 |
| KRTAP5-3 | - | 11p15.5 |
| KRTAP5-4 | - | 11p15.5 |
| KRTAP5-7 | - | 11q13.4 |
| KRTAP5-9 | epidermis development | 11q13.5 |
| KRTAP5-AS1 | - | 11p15.5 |
| KRTAP6-1 | - | 21q22.1 |
| KRTAP6-2 | - | 21q22.1 |
| KRTCAP2 | - | 1q22 |
| KRTCAP3 | - | 2p23.3 |
| KRTDAP | cell differentiation | 19q13.12 |
| KSR1 | protein phosphorylation; Ras protein signal transduction; intracellular signal transduction | 17q11.2 |
| KSR2 | intracellular signal transduction | 12q24.22-q24.23 |
| KTI12 | - | 1p32.3 |
| KTN1 | microtubule-based movement | 14q22.1 |
| KTN1-AS1 | - | 14q22.3 |
| KU-MEL-3 | - | 6p25.3-p24.1 |
| KXD1 | - | 19p13.11 |
| KY | proteolysis | 3q22.2 |
| KYNU | quinolinate biosynthetic process; tryptophan catabolic process to acetyl-CoA; response to interferon-gamma; response to vitamin B6; tryptophan catabolic process to kynurenine; cellular nitrogen compound metabolic process; anthranilate metabolic process; small molecule metabolic process; pyridine nucleotide biosynthetic process; NAD biosynthetic process; tryptophan catabolic process | 2q22.2 |
| L1CAM | cell adhesion; leukocyte cell-cell adhesion; homophilic cell adhesion; heterophilic cell-cell adhesion; cell surface receptor signaling pathway; multicellular organismal development; nervous system development; axon guidance; blood coagulation; cell death; positive regulation of cell-cell adhesion; cell differentiation; neuron projection development; cell-cell adhesion mediated by integrin; homotypic cell-cell adhesion; positive regulation of calcium-mediated signaling; leukocyte migration; chemotaxis | Xq28 |
| L1TD1 | - | 1p31.3 |
| L2HGDH | small molecule metabolic process; cellular protein metabolic process; 2-oxoglutarate metabolic process | 14q21.3 |
| L3HYPDH | - | 14q23.1 |
| L3MBTL1 | regulation of mitosis; chromatin modification; regulation of cell cycle; hemopoiesis; regulation of megakaryocyte differentiation; negative regulation of transcription, DNA-dependent | 20q13.12 |
| L3MBTL2 | chromatin modification; regulation of transcription, DNA-dependent | 22q13.31-q13.33 |
| L3MBTL3 | regulation of transcription, DNA-dependent; chromatin modification | 6q23 |
| L3MBTL4 | chromatin modification | 18p11.31 |
| LACC1 | - | 13q14.11 |
| LACE1 | - | 6q22.1 |
| LACRT | tear secretion; positive regulation of NFAT protein import into nucleus; positive regulation of release of sequestered calcium ion into cytosol; positive regulation of secretion; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of epithelial cell proliferation; protein localization in Golgi apparatus; calcineurin-NFAT signaling cascade; calcium-mediated signaling; positive regulation of cell proliferation | 12q13 |
| LACTB | - | 15q22.1 |
| LACTB2 | - | 8q13.3 |
| LACTB2-AS1 | - | 8q13.2 |
| LACTBL1 | - | 1p36.12 |
| LAD1 | - | 1q25.1-q32.3 |
| LAG3 | negative regulation of T cell activation; positive regulation of natural killer cell mediated cytotoxicity; negative regulation of interleukin-2 biosynthetic process; cell surface receptor signaling pathway | 12p13.32 |
| LAGE3 | - | Xq28 |
| LAIR1 | - | 19q13.4 |
| LALBA | cell-cell signaling; induction of apoptosis; lactose biosynthetic process; signal transduction; defense response to bacterium | 12q13 |
| LAMA1 | retina development in camera-type eye; neuron projection development; establishment of epithelial cell apical/basal polarity; regulation of embryonic development; epithelial tube branching involved in lung morphogenesis; morphogenesis of an epithelial sheet; regulation of cell migration; regulation of cell adhesion; tissue development; cell surface receptor signaling pathway; axon guidance; branching involved in salivary gland morphogenesis; retinal blood vessel morphogenesis | 18p11.3 |
| LAMA2 | regulation of embryonic development; muscle organ development; regulation of cell adhesion; regulation of cell migration; positive regulation of synaptic transmission, cholinergic | 6q22-q23 |
| LAMA3 | epidermis development; regulation of cell adhesion; regulation of cell migration; hemidesmosome assembly; cell junction assembly; regulation of embryonic development | 18q11.2 |
| LAMA4 | blood vessel development; regulation of cell adhesion; regulation of cell migration; regulation of embryonic development; brown fat cell differentiation | 6q21 |
| LAMA5 | regulation of embryonic development; odontogenesis of dentin-containing tooth; cell recognition; cell proliferation; embryo development; organ morphogenesis; morphogenesis of embryonic epithelium; cell migration; cell differentiation; regulation of cell adhesion; lung development; regulation of cell migration; substrate adhesion-dependent cell spreading; regulation of cell proliferation; cilium assembly; endothelial cell differentiation; focal adhesion assembly; branching involved in salivary gland morphogenesis; establishment of protein localization in plasma membrane; muscle organ development; integrin-mediated signaling pathway; cytoskeleton organization; hair follicle development; neural crest cell migration; morphogenesis of a polarized epithelium; branching involved in ureteric bud morphogenesis; angiogenesis | 20q13.2-q13.3 |
| LAMA5-AS1 | - | - |
| LAMB1 | embryo implantation; cell adhesion; negative regulation of cell adhesion; positive regulation of epithelial cell proliferation; odontogenesis; substrate adhesion-dependent cell spreading; neuron projection development; positive regulation of cell migration; axon guidance | 7q22 |
| LAMB2 | astrocyte development; retina development in camera-type eye; metanephric glomerular basement membrane development; metanephric glomerular visceral epithelial cell development; axon extension involved in regeneration; neuron projection development; Schwann cell development; visual perception; neuromuscular junction development; cell morphogenesis involved in differentiation; cell adhesion | 3p21 |
| LAMB2P1 | - | 3p21.3-p21.2 |
| LAMB3 | cell adhesion; epidermis development; hemidesmosome assembly; cell junction assembly; brown fat cell differentiation | 1q32 |
| LAMB4 | cell adhesion | 7q31 |
| LAMC1 | extracellular matrix disassembly; protein complex assembly; cell adhesion; axon guidance; endoderm development; cell migration; neuron projection development; hemidesmosome assembly; substrate adhesion-dependent cell spreading; positive regulation of epithelial cell proliferation | 1q31 |
| LAMC2 | hemidesmosome assembly; epidermis development; cell adhesion; cell junction assembly | 1q25-q31 |
| LAMC3 | retina development in camera-type eye; astrocyte development; visual perception; cell adhesion; cell morphogenesis involved in differentiation | 9q31-q34 |
| LAMP1 | autophagic cell death; autophagy | 13q34 |
| LAMP2 | platelet activation; blood coagulation; platelet degranulation | Xq24 |
| LAMP3 | cell proliferation | 3q26.3-q27 |
| LAMP5 | - | 20p12 |
| LAMP5-AS1 | - | - |
| LAMTOR1 | positive regulation of TOR signaling cascade; cellular response to amino acid stimulus; lysosome localization; regulation of cholesterol import; positive regulation of MAPK cascade; regulation of receptor recycling; cholesterol homeostasis; endosome organization; lysosome organization; regulation of cholesterol esterification; cell growth; regulation of cholesterol efflux; cellular protein localization; endosome localization | 11q13.4 |
| LAMTOR2 | positive regulation of TOR signaling cascade; cellular response to amino acid stimulus; cellular protein localization; cell growth; activation of MAPKK activity | 1q22 |
| LAMTOR3 | cellular protein localization; cellular response to amino acid stimulus; positive regulation of TOR signaling cascade | 4q23 |
| LAMTOR3P1 | - | 13q13.3 |
| LAMTOR4 | - | 7q22.1 |
| LAMTOR5 | - | 1p13.3 |
| LAMTOR5-AS1 | - | 1p13.3 |
| LANCL1 | G-protein coupled receptor signaling pathway | 2q33-q35 |
| LANCL2 | negative regulation of transcription, DNA-dependent; positive regulation of abscisic acid mediated signaling pathway | 7q31.1-q31.33 |
| LANCL3 | - | Xp21.1 |
| LAP3 | proteolysis; metabolic process | 4p15.32 |
| LAPTM4A | transport | 2p24.1 |
| LAPTM4B | transport | 8q22.1 |
| LAPTM5 | transport | 1p34 |
| LARGE | muscle cell homeostasis; glycoprotein biosynthetic process; glycosphingolipid biosynthetic process; protein glycosylation; N-acetylglucosamine metabolic process | 22q12.3 |
| LARGE-AS1 | - | - |
| LARP1 | - | 5q33.2 |
| LARP1B | - | 4q28.2 |
| LARP1BP1 | - | 4q13.1 |
| LARP4 | cytoskeleton organization; regulation of cell morphogenesis | 12q13.12 |
| LARP4B | - | 10p15.3 |
| LARP4P | - | 15q14 |
| LARP6 | regulation of translation; RNA processing | 15q23 |
| LARP7 | RNA processing | 4q25 |
| LARS | leucyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; gene expression | 5q32 |
| LARS2 | tRNA aminoacylation for protein translation; leucyl-tRNA aminoacylation; gene expression | 3p21.3 |
| LAS1L | rRNA processing | Xq12 |
| LASP1 | ion transport; ion transmembrane transport | 17q11-q21.3 |
| LAT | calcium-mediated signaling; regulation of T cell activation; T cell receptor signaling pathway; mast cell degranulation; T cell activation; blood coagulation; platelet activation; Ras protein signal transduction; intracellular signal transduction; immune response; integrin-mediated signaling pathway | 16p11.2 |
| LAT2 | calcium-mediated signaling; intracellular signal transduction; B cell activation; mast cell degranulation; B cell receptor signaling pathway | 7q11.23 |
| LATS1 | protein phosphorylation; sister chromatid segregation; cell cycle; G2/M transition of mitotic cell cycle; regulation of protein complex assembly; positive regulation of peptidyl-serine phosphorylation; hormone-mediated signaling pathway; regulation of actin filament polymerization; negative regulation of canonical Wnt receptor signaling pathway; cell division; cytoplasmic sequestering of protein; mitosis; hippo signaling cascade; negative regulation of cyclin-dependent protein kinase activity | 6q25.1 |
| LATS2 | regulation of organ growth; hormone-mediated signaling pathway; intracellular protein kinase cascade; mitosis; cell cycle; protein phosphorylation; G1/S transition of mitotic cell cycle; hippo signaling cascade; negative regulation of cyclin-dependent protein kinase activity; keratinocyte differentiation; cellular protein localization; negative regulation of canonical Wnt receptor signaling pathway; cell division | 13q11-q12 |
| LATS2-AS1 | - | - |
| LAX1 | intracellular signal transduction; negative regulation of T cell activation; B cell activation; inactivation of MAPK activity; immune response | 1q32.1 |
| LAYN | - | 11q23.1 |
| LBH | positive regulation of transcription, DNA-dependent; multicellular organismal development | 2p23.1 |
| LBHD1 | - | 11q12.3 |
| LBP | positive regulation of tumor necrosis factor production; positive regulation of toll-like receptor 4 signaling pathway; positive regulation of tumor necrosis factor biosynthetic process; positive regulation of macrophage activation; negative regulation of growth of symbiont in host; innate immune response; defense response to Gram-negative bacterium; defense response to Gram-positive bacterium; positive regulation of respiratory burst involved in inflammatory response; cellular response to lipopolysaccharide; cellular response to lipoteichoic acid; lipid transport; positive regulation of neutrophil chemotaxis; positive regulation of interleukin-6 production; leukocyte chemotaxis involved in inflammatory response; macrophage activation involved in immune response; transport; acute-phase response; cellular defense response; Toll signaling pathway; opsonization; lipopolysaccharide-mediated signaling pathway; positive regulation of interleukin-8 production; positive regulation of chemokine production; negative re | 20q11.23 |
| LBR | cholesterol biosynthetic process; small molecule metabolic process; oxidation-reduction process | 1q42.1 |
| LBX1 | negative regulation of cell proliferation; muscle organ development; nervous system development; multicellular organismal development; heart looping; regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification; cell differentiation; negative regulation of neuron differentiation; neuron fate determination; anatomical structure morphogenesis | 10q24 |
| LBX1-AS1 | - | 10q24.31 |
| LBX2 | - | 2p13.1 |
| LBX2-AS1 | - | 2p13.1 |
| LCA5 | protein transport | 6q14.1 |
| LCA5L | - | 21q22.2 |
| LCAT | regulation of high-density lipoprotein particle assembly; response to glucocorticoid stimulus; response to copper ion; small molecule metabolic process; reverse cholesterol transport; cholesterol homeostasis; lipoprotein biosynthetic process; cholesterol esterification; lipoprotein metabolic process; lipid metabolic process; phospholipid metabolic process; phosphatidylcholine biosynthetic process; steroid metabolic process; cholesterol metabolic process; cholesterol transport; very-low-density lipoprotein particle remodeling; high-density lipoprotein particle remodeling | 16q22.1 |
| LCE1A | keratinization | 1q21.3 |
| LCE1B | keratinization | 1q21.3 |
| LCE1E | keratinization | 1q21.3 |
| LCE1F | keratinization | 1q21.3 |
| LCE2A | keratinization | 1q21.3 |
| LCE2C | keratinization | 1q21.3 |
| LCE3A | keratinization | 1q21.3 |
| LCE3B | keratinization | 1q21.3 |
| LCE3E | keratinization | 1q21.3 |
| LCE4A | keratinization | 1q21.3 |
| LCK | positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of T cell receptor signaling pathway; response to hydrogen peroxide; interspecies interaction between organisms; positive regulation of gamma-delta T cell differentiation; protein autophosphorylation; regulation of defense response to virus by virus; T cell receptor signaling pathway; B cell receptor signaling pathway; positive regulation of T cell activation; leukocyte migration; release of sequestered calcium ion into cytosol; regulation of lymphocyte activation; positive regulation of uterine smooth muscle contraction; blood coagulation; response to drug; induction of apoptosis; cellular zinc ion homeostasis; activation of cysteine-type endopeptidase activity involved in apoptotic process; cell surface receptor signaling pathway; aging; response to mechanical stimulus; protein phosphorylation; response to zinc ion; viral reproduction; peptidyl-tyrosine phosphorylation; hemopoiesis; platelet activation; T cell differentiat | 1p34.3 |
| LCLAT1 | phospholipid biosynthetic process; metabolic process; multicellular organismal development | 2p23.1 |
| LCMT1 | protein modification process; C-terminal protein methylation | 16p12.1 |
| LCMT2 | tRNA processing | 15q15.3 |
| LCN1 | proteolysis; response to stimulus; sensory perception of taste | 9q34 |
| LCN10 | transport | 9q34.3 |
| LCN12 | lipid metabolic process | 9q34.3 |
| LCN15 | lipid metabolic process | 9q34.3 |
| LCN2 | innate immune response; iron ion homeostasis; ion transport; siderophore transport; regulation of apoptotic process | 9q34 |
| LCN6 | single fertilization | 9q34.3 |
| LCN8 | transport | 9q34.3 |
| LCN9 | - | 9q34.3 |
| LCNL1 | - | 9q34.3 |
| LCOR | negative regulation of transcription from RNA polymerase II promoter | 10q24 |
| LCORL | regulation of transcription from RNA polymerase II promoter | 4p15.31 |
| LCP1 | T cell activation involved in immune response; organ regeneration; regulation of intracellular protein transport; actin filament bundle assembly | 13q14.3 |
| LCP2 | cytokine secretion; T cell receptor signaling pathway; mast cell activation; platelet activation; blood coagulation; transmembrane receptor protein tyrosine kinase signaling pathway; immune response | 5q35.1 |
| LCT | response to drug; response to ethanol; small molecule metabolic process; polysaccharide digestion; response to estrogen stimulus; response to starvation; response to lead ion; response to nickel cation; response to sucrose stimulus; response to hormone stimulus; response to nutrient; carbohydrate metabolic process; response to hypoxia | 2q21 |
| LCTL | carbohydrate metabolic process | 15q22.31 |
| LDAH | - | 2p24.1 |
| LDB1 | head development; transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery; gastrulation with mouth forming second; hair follicle development; transcription, DNA-dependent; regulation of transcription, DNA-dependent; multicellular organismal development; Wnt receptor signaling pathway; positive regulation of hemoglobin biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of cell adhesion; negative regulation of erythrocyte differentiation; anterior/posterior axis specification; cerebellum development; cerebellar Purkinje cell differentiation; cellular component assembly; neuron differentiation; epithelial structure maintenance; regulation of transcription elongation, DNA-dependent; somatic stem cell maintenance; histone H3-K4 acetylation | 10q24-q25 |
| LDB2 | positive regulation of transcription from RNA polymerase II promoter; hair follicle development; epithelial structure maintenance; somatic stem cell maintenance; positive regulation of cellular component biogenesis | 4p16 |
| LDB3 | - | 10q22.3-q23.2 |
| LDHA | pyruvate metabolic process; glycolysis; cellular carbohydrate metabolic process; small molecule metabolic process | 11p15.4 |
| LDHAL6A | glycolysis; cellular carbohydrate metabolic process | 11p15.1 |
| LDHAL6DP | - | - |
| LDHAL6FP | - | - |
| LDHAP1 | - | 4p16.2 |
| LDHAP2 | - | 1q42.3 |
| LDHAP3 | - | 2p21 |
| LDHAP4 | - | 9p22.3 |
| LDHAP5 | - | 10q26.11 |
| LDHAP7 | - | 2p11.2 |
| LDHB | cellular carbohydrate metabolic process; small molecule metabolic process; NAD metabolic process; glycolysis; pyruvate metabolic process; lactate metabolic process | 12p12.2-p12.1 |
| LDHBP1 | - | 13q34 |
| LDHBP2 | - | Xq13.3 |
| LDHC | glycolysis; cellular carbohydrate metabolic process | 11p15.1 |
| LDHD | - | 16q23.1 |
| LDLR | interspecies interaction between organisms; cholesterol import; small molecule metabolic process; cholesterol homeostasis; lipoprotein metabolic process; low-density lipoprotein particle clearance; cholesterol transport; phospholipid transport; lipid metabolic process; transport; endocytosis; receptor-mediated endocytosis; intestinal cholesterol absorption; cholesterol metabolic process; positive regulation of triglyceride biosynthetic process; regulation of phosphatidylcholine catabolic process; steroid metabolic process | 19p13.2 |
| LDLRAD1 | - | 1p32.3 |
| LDLRAD2 | - | 1p36.12 |
| LDLRAD3 | - | 11p13 |
| LDLRAD4 | - | 18p11.21 |
| LDLRAP1 | receptor internalization; receptor-mediated endocytosis; positive regulation of cholesterol metabolic process; receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport; regulation of establishment of protein localization in plasma membrane; positive regulation of receptor-mediated endocytosis; regulation of protein binding; amyloid precursor protein metabolic process; cholesterol homeostasis; positive regulation of signal transduction; cholesterol metabolic process; steroid metabolic process; transport | 1p36-p35 |
| LDOC1 | negative regulation of cell proliferation | Xq27 |
| LDOC1L | - | 22q13.31 |
| LEAP2 | defense response to bacterium | 5q31.1 |
| LECT1 | cell differentiation; negative regulation of vascular endothelial growth factor receptor signaling pathway; cartilage development; multicellular organismal development; proteoglycan metabolic process; negative regulation of angiogenesis; skeletal system development; endothelial cell morphogenesis; negative regulation of endothelial cell proliferation | 13q14.3 |
| LECT2 | skeletal system development; chemotaxis | 5q31.1 |
| LEF1 | positive regulation by host of viral transcription; positive regulation of gene expression; response to lithium ion; negative regulation of transcription from RNA polymerase II promoter; patterning of blood vessels; osteoblast differentiation; positive regulation of cell proliferation; brain development; histone H3 acetylation; skin development; tongue development; negative regulation of DNA binding; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; odontogenesis of dentin-containing tooth; B cell proliferation; T cell receptor V(D)J recombination; negative regulation of interleukin-5 production; histone H4 acetylation; T-helper 1 cell differentiation; negative regulation of striated muscle tissue development; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; alpha-beta T cell differentiation; eye pigmen | 4q23-q25 |
| LEF1-AS1 | - | 4q25 |
| LEFTY1 | multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; heart morphogenesis; transforming growth factor beta receptor signaling pathway; determination of left/right symmetry; cell growth | 1q42.1 |
| LEFTY2 | cell growth; blood coagulation; multicellular organismal development; transforming growth factor beta receptor signaling pathway; platelet degranulation; platelet activation | 1q42.1 |
| LEKR1 | - | 3q25.31 |
| LELP1 | - | 1q21.3 |
| LEMD1 | - | 1q32.1 |
| LEMD2 | skeletal muscle cell differentiation | 6p21.31 |
| LEMD3 | negative regulation of activin receptor signaling pathway; negative regulation of BMP signaling pathway; negative regulation of transforming growth factor beta receptor signaling pathway | 12q14 |
| LENG1 | - | 19q13.4 |
| LENG8 | - | 19q13.42 |
| LENG8-AS1 | - | 19q13.42 |
| LENG9 | RNA metabolic process | 19q13.4 |
| LEO1 | histone H2B ubiquitination; histone monoubiquitination; regulation of transcription, DNA-dependent | 15q21.2 |
| LEP | positive regulation of follicle-stimulating hormone secretion; positive regulation of insulin receptor signaling pathway; negative regulation of vasoconstriction; positive regulation of myeloid cell differentiation; positive regulation of MAPK cascade; positive regulation of ion transport; negative regulation of apoptotic process; eating behavior; positive regulation of tyrosine phosphorylation of Stat3 protein; hormone metabolic process; bone mineralization involved in bone maturation; intracellular signal transduction; positive regulation of luteinizing hormone secretion; positive regulation of developmental growth; regulation of insulin secretion; regulation of steroid biosynthetic process; positive regulation of cell activation; leukocyte tethering or rolling; negative regulation of amino acid transport; regulation of lipoprotein lipid oxidation; adipose tissue development; negative regulation of cartilage development; negative regulation of glucagon secretion; cellular response to L-ascorbic acid; cellul | 7q31.3 |
| LEPR | negative regulation of hydrolase activity; cholesterol metabolic process; multicellular organismal development; cell surface receptor signaling pathway; energy reserve metabolic process | 1p31 |
| LEPROT | negative regulation of JAK-STAT cascade; negative regulation of growth hormone receptor signaling pathway; negative regulation of protein localization at cell surface | 1p31.3 |
| LEPROTL1 | - | 8p21 |
| LETM1 | cristae formation | 4p16.3 |
| LETM1P2 | - | 19q13.43 |
| LETM2 | - | 8p11.23 |
| LETMD1 | - | 12q13.12 |
| LEXM | - | 1p32.3 |
| LFNG | ovarian follicle development; female meiosis; compartment pattern specification; pattern specification process; organ morphogenesis | 7p22.2 |
| LGALS1 | cellular response to organic cyclic compound; negative regulation of neuron projection development; cellular response to glucose stimulus; response to axon injury; myoblast differentiation; positive regulation of I-kappaB kinase/NF-kappaB cascade; response to drug; positive regulation of erythrocyte aggregation; multicellular organismal response to stress; negative regulation of cell-substrate adhesion; signal transduction; apoptotic process; regulation of apoptotic process | 22q13.1 |
| LGALS12 | induction of apoptosis by intracellular signals; apoptotic process | 11q13 |
| LGALS13 | phospholipid metabolic process; lipid catabolic process | 19q13.1 |
| LGALS14 | - | 19q13.2 |
| LGALS17A | - | 19q13.2 |
| LGALS2 | - | 22q13.1 |
| LGALS3 | skeletal system development; mRNA processing; RNA splicing; cell differentiation; extracellular matrix organization; innate immune response | 14q22.3 |
| LGALS3BP | cellular defense response; signal transduction; cell adhesion | 17q25 |
| LGALS4 | cell adhesion | 19q13.2 |
| LGALS7 | - | 19q13.2 |
| LGALS7B | heterophilic cell-cell adhesion; apoptotic process | 19q13.2 |
| LGALS8 | - | 1q43 |
| LGALS8-AS1 | - | 1q43 |
| LGALS9 | signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 17q11.2 |
| LGALS9B | - | 17p11.2 |
| LGALSL | - | 2p14 |
| LGI1 | nervous system development; axon guidance; neuron projection development; protein homooligomerization; positive regulation of synaptic transmission; positive regulation of cell growth; cell proliferation | 10q24 |
| LGI2 | - | 4p15.2 |
| LGI3 | regulation of exocytosis | 8p21.3 |
| LGI4 | neuron maturation; adult locomotory behavior; myelination in peripheral nervous system | 19q13.12|19q13.11 |
| LGMN | response to acid; proteolysis; steroid metabolic process; small molecule metabolic process; negative regulation of multicellular organism growth; vitamin D metabolic process; negative regulation of neuron apoptosis | 14q32.1 |
| LGMNP1 | - | 13q21.31 |
| LGR4 | epithelial cell proliferation; tube morphogenesis; canonical Wnt receptor signaling pathway involved in metanephric kidney development; cell differentiation involved in metanephros development; positive regulation of branching involved in ureteric bud morphogenesis; metanephric nephron tubule morphogenesis; metanephric glomerulus development; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; male genitalia development; G-protein coupled receptor signaling pathway | 11p14-p13 |
| LGR5 | G-protein coupled receptor signaling pathway | 12q22-q23 |
| LGR6 | - | 1q32.1 |
| LGSN | nitrogen compound metabolic process; glutamine biosynthetic process | 6pter-q22.33 |
| LHB | progesterone biosynthetic process; small molecule metabolic process; cellular nitrogen compound metabolic process; peptide hormone processing; male gonad development; cell-cell signaling; signal transduction | 19q13.32 |
| LHCGR | seminiferous tubule development; regulation of steroid hormone biosynthetic process; uterus development; positive regulation of release of sequestered calcium ion into cytosol; positive regulation of calcium-mediated signaling; arachidonic acid secretion; positive regulation of hormone biosynthetic process; development of secondary male sexual characteristics; response to drug; hormone-mediated signaling pathway; protein targeting to lysosome; G-protein coupled receptor signaling pathway; male genitalia development; G-protein signaling, coupled to cyclic nucleotide second messenger; ovarian follicle development; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of adenylate cyclase activity; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; spermatogenesis; central nervous system development; male gonad development | 2p21 |
| LHFP | - | 13q12 |
| LHFPL1 | - | Xq23 |
| LHFPL2 | - | 5q14.1 |
| LHFPL3 | - | 7q22.2 |
| LHFPL3-AS1 | - | 7q22.1 |
| LHFPL3-AS2 | - | - |
| LHFPL4 | - | 3p25.3 |
| LHPP | protein dephosphorylation; phosphate-containing compound metabolic process; metabolic process | 10q26.13 |
| LHX1 | head development; uterine epithelium development; vagina development; cervix development; oviduct development; uterus development; embryonic retina morphogenesis in camera-type eye; retina development in camera-type eye; pronephros development; embryonic viscerocranium morphogenesis; anatomical structure formation involved in morphogenesis; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of embryonic development; horizontal cell localization; nephric duct elongation; cellular response to fibroblast growth factor stimulus; epithelium development; paramesonephric duct development; comma-shaped body morphogenesis; S-shaped body morphogenesis; renal vesicle morphogenesis; mesonephric duct development; nephric duct morphogenesis; metanephric glomerulus development; metanephric comma-shaped body morphogenesis; metanephric renal vesicle morphogenesis; metanephric S-shaped body morphogenesis; primitive streak formation; positive regulation | 17q12 |
| LHX2 | neural tube closure; negative regulation of transcription regulatory region DNA binding; anatomical structure formation involved in morphogenesis; positive regulation of transcription from RNA polymerase II promoter; neuron differentiation; axon guidance; brain development; mesoderm development; dorsal/ventral pattern formation; telencephalon regionalization; neurogenesis; positive regulation of transcription, DNA-dependent | 9q33.3 |
| LHX3 | inner ear development; organ morphogenesis; positive regulation of transcription, DNA-dependent | 9q34.3 |
| LHX4 | anti-apoptosis; motor axon guidance; medial motor column neuron differentiation; organ morphogenesis | 1q25.2 |
| LHX4-AS1 | - | - |
| LHX5 | spinal cord association neuron differentiation; cerebellum development; cerebellar Purkinje cell differentiation; hippocampus development; positive regulation of transcription, DNA-dependent; regulation of cell proliferation; cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation; forebrain neuron differentiation; cell proliferation in forebrain | 12q24 |
| LHX6 | forebrain neuron development; multicellular organismal development; cerebral cortex neuron differentiation; cell differentiation; cell maturation; forebrain neuron fate commitment; cerebral cortex GABAergic interneuron migration; cerebral cortex tangential migration; cerebral cortex radially oriented cell migration; nervous system development; regulation of transcription, DNA-dependent | 9q33.2 |
| LHX8 | odontogenesis of dentin-containing tooth; learning or memory; female gonad development; forebrain neuron development | 1p31.1 |
| LHX9 | motor axon guidance; cell proliferation; male gonad development; female gonad development; negative regulation of transcription, DNA-dependent; gonad morphogenesis | 1q31.1 |
| LIAS | response to lipopolysaccharide; inflammatory response; neural tube closure; response to oxidative stress; lipoate biosynthetic process | 4p14 |
| LIF | retina development in camera-type eye; positive regulation of corticotropin secretion; positive regulation of peptidyl-tyrosine phosphorylation; leukemia inhibitory factor signaling pathway; positive regulation of astrocyte differentiation; neuron development; muscle organ morphogenesis; negative regulation of hormone secretion; lung alveolus development; maternal process involved in female pregnancy; transdifferentiation; lung vasculature development; lung lobe morphogenesis; trophoblast giant cell differentiation; spongiotrophoblast differentiation; negative regulation of ERK1 and ERK2 cascade; regulation of metanephric nephron tubule epithelial cell differentiation; positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; positive regulation of transcription from RNA polymerase II promoter; decidualization; immune response; blood vessel remodeling; multicellular organismal development; embryo implantation; positive regulation of cell proliferation; negative regulat | 22q12.2 |
| LIFR | cytokine-mediated signaling pathway; ciliary neurotrophic factor-mediated signaling pathway; leukemia inhibitory factor signaling pathway; neuron projection morphogenesis; positive regulation of anti-apoptosis; response to chemical stimulus; response to cytokine stimulus; organ regeneration; positive regulation of cell proliferation; cell surface receptor signaling pathway | 5p13-p12 |
| LIG1 | transcription-coupled nucleotide-excision repair; cell division; DNA ligation involved in DNA repair; V(D)J recombination; telomere maintenance via semi-conservative replication; anatomical structure morphogenesis; DNA recombination; double-strand break repair; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; base-excision repair; DNA repair; DNA strand elongation involved in DNA replication; DNA ligation; DNA replication; DNA metabolic process; double-strand break repair via homologous recombination; telomere maintenance; S phase of mitotic cell cycle; mitotic cell cycle; telomere maintenance via recombination | 19q13.2-q13.3 |
| LIG3 | cell cycle; cell division; DNA ligation involved in DNA repair; V(D)J recombination; spermatogenesis; reciprocal meiotic recombination; DNA recombination; base-excision repair; DNA repair; DNA ligation; DNA replication | 17q11.2-q12 |
| LIG4 | T cell differentiation in thymus; V(D)J recombination; T cell receptor V(D)J recombination; somatic stem cell maintenance; negative regulation of neuron apoptosis; isotype switching; positive regulation of fibroblast proliferation; positive regulation of neurogenesis; DNA ligation involved in DNA recombination; DNA ligation involved in DNA repair; chromosome organization; cell division; neuron apoptosis; cellular response to lithium ion; DNA repair; provirus integration; initiation of viral infection; single strand break repair; in utero embryonic development; pro-B cell differentiation; DNA replication; DNA ligation; nucleotide-excision repair, DNA gap filling; double-strand break repair; double-strand break repair via nonhomologous end joining; cell cycle; central nervous system development; cell proliferation; response to X-ray; response to gamma radiation; viral reproduction | 13q33-q34 |
| LILRA1 | regulation of immune response; defense response; cell surface receptor signaling pathway | 19q13.4 |
| LILRA2 | defense response; signal transduction | 19q13.4 |
| LILRA4 | - | 19q13.4 |
| LILRA5 | innate immune response | 19q13.4 |
| LILRB1 | negative regulation of cytokine secretion involved in immune response; positive regulation of transcription from RNA polymerase II promoter; response to virus; negative regulation of osteoclast development; signal transduction; Fc receptor mediated inhibitory signaling pathway; negative regulation of cell cycle; negative regulation of interferon-gamma biosynthetic process; interferon-gamma production; immune response-inhibiting cell surface receptor signaling pathway; positive regulation of apoptotic process; negative regulation of tumor necrosis factor biosynthetic process; negative regulation of T cell proliferation; negative regulation of interferon-beta secretion; negative regulation of mononuclear cell proliferation; negative regulation of endocytosis; negative regulation of interferon-gamma production; dendritic cell differentiation; negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell; positive regulation of gamma-delta T cel | 19q13.4 |
| LILRB2 | negative regulation of antigen processing and presentation; cell surface receptor signaling pathway; signal transduction; cellular defense response; immune response; Fc receptor mediated inhibitory signaling pathway; immune response-inhibiting cell surface receptor signaling pathway; positive regulation of T cell tolerance induction; negative regulation of calcium ion transport; cell-cell signaling; positive regulation of interleukin-6 production; heterotypic cell-cell adhesion; positive regulation of T cell proliferation; negative regulation of T cell proliferation; positive regulation of regulatory T cell differentiation; regulation of immune response; cellular response to lipopolysaccharide; regulation of dendritic cell differentiation | 19q13.4 |
| LILRB3 | cell surface receptor signaling pathway; defense response; negative regulation of osteoclast differentiation | 19q13.4 |
| LILRB4 | negative regulation of osteoclast differentiation; signal transduction | 19q13.4 |
| LILRB5 | cell surface receptor signaling pathway; defense response | 19q13.4 |
| LILRP2 | - | 19q13.4 |
| LIM2 | lens development in camera-type eye; cell-cell junction assembly | 19q13.4 |
| LIMA1 | actin filament bundle assembly; ruffle organization; negative regulation of actin filament depolymerization | 12q13 |
| LIMCH1 | actomyosin structure organization | 4p13 |
| LIMD1 | cytoplasmic mRNA processing body assembly; regulation of transcription, DNA-dependent; cytoskeleton organization; signal transduction; multicellular organismal development; regulation of cell shape; gene silencing by miRNA; negative regulation of transcription, DNA-dependent; cell migration | 3p21.3 |
| LIMD1-AS1 | - | 3p21.31 |
| LIMD2 | - | 17q23.3 |
| LIME1 | B cell receptor signaling pathway; regulation of transcription from RNA polymerase II promoter; regulation of phosphatidylinositol 3-kinase cascade; regulation of NF-kappaB import into nucleus; regulation of I-kappaB kinase/NF-kappaB cascade; regulation of release of sequestered calcium ion into cytosol; regulation of MAP kinase activity | 20q13.3 |
| LIMK1 | negative regulation of ubiquitin-protein ligase activity; positive regulation of axon extension; positive regulation of actin filament bundle assembly; actin cytoskeleton organization; axon guidance; nervous system development; signal transduction; protein phosphorylation; Rho protein signal transduction | 7q11.23 |
| LIMK2 | regulation of phosphorylation; phosphorylation; spermatogenesis | 22q12.2 |
| LIMS1 | cell aging; cell junction assembly; negative regulation of transcription, DNA-dependent; cellular response to transforming growth factor beta stimulus | 2q12.3 |
| LIMS2 | cell junction assembly | 2q14.3 |
| LIMS3-LOC440895 | - | 2q13 |
| LIN28A | stem cell differentiation; regulation of transcription, DNA-dependent; germ cell development; miRNA catabolic process; stem cell maintenance; gene silencing by RNA; pre-miRNA processing; RNA 3'-end processing; positive regulation of neuron differentiation; negative regulation of glial cell differentiation; positive regulation of translation | 1p36.11 |
| LIN28AP2 | - | 13q31.2 |
| LIN28B | regulation of transcription, DNA-dependent; miRNA catabolic process; gene silencing by RNA; pre-miRNA processing; RNA 3'-end processing | 6q21 |
| LIN37 | mitotic cell cycle | 19q13.1 |
| LIN52 | mitotic cell cycle | 14q24.3 |
| LIN54 | mitotic cell cycle; regulation of transcription, DNA-dependent | 4q21.22 |
| LIN7A | protein transport; protein complex assembly; exocytosis | 12q21 |
| LIN7B | exocytosis; neurotransmitter secretion; protein transport | 19q13.3 |
| LIN7C | neurotransmitter secretion; protein transport; exocytosis | 11p14 |
| LIN9 | DNA replication; mitotic cell cycle | 1q42.12 |
| LINC-PINT | - | 7q32.3 |
| LINC00029 | - | 20q13.33 |
| LINC00032 | - | 9p21 |
| LINC00051 | - | 8q24.3 |
| LINC00052 | - | 15q25.3 |
| LINC00083 | - | 1q25.2 |
| LINC00092 | - | 9q22.32 |
| LINC00094 | - | 9q34 |
| LINC00102 | - | Xp22.33 and Yp11.31 |
| LINC00106 | - | Xp22.33; Yp11.32 |
| LINC00113 | - | 21q21.3 |
| LINC00114 | - | 21q22.2 |
| LINC00115 | - | 1p36.33 |
| LINC00116 | - | 2q13 |
| LINC00152 | - | 2p11.2 |
| LINC00158 | - | 21q21.3 |
| LINC00160 | - | 21q22.12 |
| LINC00161 | - | 21q21.3 |
| LINC00162 | - | 21q22.3 |
| LINC00163 | - | 21q22.3 |
| LINC00167 | - | 11q24.3 |
| LINC00173 | - | 12q24.22 |
| LINC00174 | - | 7q11.21 |
| LINC00176 | - | 20q13.33 |
| LINC00184 | - | 1q42.3 |
| LINC00189 | - | 21q22.11 |
| LINC00200 | - | 10p15.3 |
| LINC00202-1 | - | 10p12.1 |
| LINC00202-2 | - | 10p12.1 |
| LINC00207 | - | 22q13.31 |
| LINC00221 | - | 14q32.33 |
| LINC00222 | - | 6q21 |
| LINC00238 | - | 14q23.3 |
| LINC00239 | - | 14q32.31 |
| LINC00240 | - | 6p22.2 |
| LINC00243 | - | 6p21.33 |
| LINC00260 | - | 1q32.1 |
| LINC00261 | - | 20p11.21 |
| LINC00264 | - | 10p12.1 |
| LINC00265 | - | 7p14.1 |
| LINC00265-3P | - | Yq11.23 |
| LINC00266-1 | - | 20q13.33 |
| LINC00266-4P | - | Yq11.23 |
| LINC00268 | - | 9p11.2 |
| LINC00268-2P | - | Yq11.1 |
| LINC00269 | - | Xq13.1 |
| LINC00271 | - | 6q23.3 |
| LINC00273 | - | 16p11.2 |
| LINC00276 | - | 2p24.3 |
| LINC00278 | - | - |
| LINC00282 | - | 13q14.3 |
| LINC00284 | - | 13q14.11 |
| LINC00290 | - | 4q34.3 |
| LINC00293 | - | 8q11.1 |
| LINC00294 | - | 11p13 |
| LINC00297 | - | - |
| LINC00299 | - | 2p25.1 |
| LINC00301 | - | 11q12.2 |
| LINC00303 | - | 1q32.1 |
| LINC00304 | - | 16q24.3 |
| LINC00305 | - | 18q22.1 |
| LINC00308 | - | 21q21.1 |
| LINC00309 | - | 2p15 |
| LINC00310 | - | 21q22.11 |
| LINC00311 | - | 16q24.1 |
| LINC00312 | - | 3p25.3 |
| LINC00313 | - | 21q22.3 |
| LINC00314 | - | 21q21.3 |
| LINC00315 | - | 21q22.3 |
| LINC00317 | - | 21q21.1 |
| LINC00319 | - | 21q22.3 |
| LINC00322 | - | 21q22.3 |
| LINC00324 | - | 17p13.1 |
| LINC00326 | - | 6q23.2 |
| LINC00327 | - | - |
| LINC00328 | - | - |
| LINC00330 | - | 13q14.11 |
| LINC00332 | - | - |
| LINC00333 | - | - |
| LINC00334 | - | 21q22.3 |
| LINC00336 | - | 6p21.31 |
| LINC00337 | - | 1p36.31 |
| LINC00339 | - | 1p36.12 |
| LINC00341 | - | 14q32.13 |
| LINC00342 | - | 2q11.2 |
| LINC00346 | - | 13q34 |
| LINC00349 | - | - |
| LINC00355 | - | 13q21.31 |
| LINC00359 | - | 13q |
| LINC00362 | - | - |
| LINC00365 | - | - |
| LINC00367 | - | 13q12.11 |
| LINC00371 | - | 13q14.3 |
| LINC00375 | - | 13q31.1 |
| LINC00383 | - | 13q21.33 |
| LINC00388 | - | - |
| LINC00391 | - | - |
| LINC00392 | - | - |
| LINC00393 | - | - |
| LINC00399 | - | 13q33.3 |
| LINC00403 | - | - |
| LINC00404 | - | - |
| LINC00412 | - | 13q12.2 |
| LINC00415 | - | - |
| LINC00421 | - | 13q12.11 |
| LINC00426 | - | 13q12.3 |
| LINC00431 | - | 13q34 |
| LINC00441 | - | 13q14.2 |
| LINC00442 | - | 13q12.11 |
| LINC00452 | - | 13q34 |
| LINC00458 | - | - |
| LINC00460 | - | 13q33.3 |
| LINC00461 | - | 5q14.3 |
| LINC00462 | - | 13q14.2 |
| LINC00466 | - | 1p31.3 |
| LINC00467 | - | 1q32.3 |
| LINC00470 | - | - |
| LINC00471 | - | 2q37.1 |
| LINC00472 | - | 6q13 |
| LINC00473 | - | 6q27 |
| LINC00475 | - | 9q22.31 |
| LINC00476 | - | 9q22.32 |
| LINC00477 | - | 12p12.1 |
| LINC00479 | - | 21q22.3 |
| LINC00482 | - | 17q25.3 |
| LINC00483 | - | 17q21.33 |
| LINC00484 | - | 9q22.2 |
| LINC00486 | - | 2p22.3 |
| LINC00488 | - | 3q13.13 |
| LINC00491 | - | 5q21.2 |
| LINC00493 | - | 20p11.23 |
| LINC00494 | - | 20q13.13 |
| LINC00504 | - | 4p15.33 |
| LINC00506 | - | 3p12.1 |
| LINC00514 | - | 16p13.3 |
| LINC00517 | - | 14q21.1 |
| LINC00518 | - | 6p24.3 |
| LINC00519 | - | 14q21.3 |
| LINC00520 | - | 14q22.3 |
| LINC00521 | - | 14q32.12 |
| LINC00523 | - | 14q32.2 |
| LINC00524 | - | 14q32.31 |
| LINC00526 | - | 18p11.31 |
| LINC00528 | - | 22q11.21 |
| LINC00534 | - | - |
| LINC00535 | - | 8q22.1 |
| LINC00536 | - | 8q23.3 |
| LINC00537 | - | 9q21.11 |
| LINC00539 | - | 13q12.11 |
| LINC00540 | - | - |
| LINC00543 | - | 13q12.2 |
| LINC00544 | - | 13q12.3 |
| LINC00545 | - | 13q12.3 |
| LINC00547 | - | 13q13.3 |
| LINC00548 | - | 13q14.11 |
| LINC00555 | - | 13q33.1 |
| LINC00556 | - | 13q12.11 |
| LINC00557 | - | 13q32.1 |
| LINC00558 | - | 13q14.3 |
| LINC00560 | - | 13q31.2 |
| LINC00561 | - | 13q22.2 |
| LINC00562 | - | 13q14.2 |
| LINC00563 | - | 13q14.13 |
| LINC00565 | - | 13q34 |
| LINC00566 | - | 13q12.12 |
| LINC00567 | - | 13q34 |
| LINC00571 | - | - |
| LINC00574 | - | 6q27 |
| LINC00575 | - | 4q21.3 |
| LINC00588 | - | 8q12.1 |
| LINC00589 | - | 8p12 |
| LINC00592 | - | 12q13.13 |
| LINC00593 | - | 15q23 |
| LINC00594 | - | 15q15.1 |
| LINC00595 | - | 10q22.3 |
| LINC00597 | - | 15q23-q24 |
| LINC00598 | - | 13q14.11 |
| LINC00599 | - | 8p23.1 |
| LINC00601 | - | 10q26.2 |
| LINC00602 | - | 6q27 |
| LINC00603 | - | 5p13.1 |
| LINC00605 | - | 14q32.32 |
| LINC00607 | - | 2q35 |
| LINC00608 | - | 2q35 |
| LINC00612 | - | 12p13.31 |
| LINC00616 | - | 4q28.3 |
| LINC00618 | - | 14q32.31 |
| LINC00621 | - | 13q12.12 |
| LINC00622 | - | 1p12 |
| LINC00623 | - | 1q21.1 |
| LINC00624 | - | 1q21.1 |
| LINC00626 | - | 1q24.2 |
| LINC00628 | - | 1q32.1 |
| LINC00629 | - | - |
| LINC00630 | - | Xq22.1 |
| LINC00632 | - | Xq27.1 |
| LINC00634 | - | 22q13.2 |
| LINC00635 | - | 3q13.12 |
| LINC00637 | - | 14q32.33 |
| LINC00638 | - | 14q32.33 |
| LINC00639 | - | 14q21.1 |
| LINC00640 | - | 14q22.1 |
| LINC00641 | - | 14q11.2 |
| LINC00643 | - | 14q23.2 |
| LINC00645 | - | - |
| LINC00648 | - | - |
| LINC00649 | - | - |
| LINC00652 | - | 20p11.23 |
| LINC00654 | - | 20p12.3 |
| LINC00656 | - | 20p11.21 |
| LINC00657 | - | 20q11.23 |
| LINC00658 | - | - |
| LINC00659 | - | - |
| LINC00661 | - | 19p13.12 |
| LINC00662 | - | 19q11 |
| LINC00663 | - | 19p13.11 |
| LINC00664 | - | 19p12 |
| LINC00665 | - | 19q13.12 |
| LINC00667 | - | 18p11.31 |
| LINC00668 | - | 18p11.31 |
| LINC00670 | - | 17p12 |
| LINC00672 | - | - |
| LINC00674 | - | 17q24.2 |
| LINC00675 | - | 17p13.1-p12 |
| LINC00677 | - | 14q32.33 |
| LINC00685 | - | Xp22.33; Yp11.3 |
| LINC00686 | - | - |
| LINC00687 | - | 20p12.2 |
| LINC00689 | - | 7q36.3 |
| LINC00691 | - | 3p24.2 |
| LINC00693 | - | 3p24.1 |
| LINC00696 | - | 3p21.2 |
| LINC00698 | - | 3p14.2 |
| LINC00702 | - | - |
| LINC00704 | - | 10p15.1 |
| LINC00707 | - | - |
| LINC00824 | - | 8q24.21 |
| LINC00839 | - | 10q11.21 |
| LINC00842 | - | 10q11.22 |
| LINC00843 | - | - |
| LINC00844 | - | - |
| LINC00845 | - | - |
| LINC00847 | - | 5q35.3 |
| LINC00851 | - | 20p11.23 |
| LINC00852 | - | 3p25.3 |
| LINC00853 | - | - |
| LINC00854 | - | - |
| LINC00856 | - | 10q22.3 |
| LINC00857 | - | 10q22.3 |
| LINC00858 | - | 10q23.1 |
| LINC00862 | - | 1q32.1 |
| LINC00863 | - | 10q23.2 |
| LINC00865 | - | 10q23.31 |
| LINC00869 | - | 1q21.1 |
| LINC00871 | - | 14q21.2 |
| LINC00877 | - | 3p14.2 |
| LINC00879 | - | 3q11.2 |
| LINC00880 | - | 3q25.31 |
| LINC00882 | - | 3q13.12 |
| LINC00884 | - | 3q29 |
| LINC00885 | - | 3q29 |
| LINC00886 | - | 3q25.31 |
| LINC00887 | - | 3q29 |
| LINC00888 | - | - |
| LINC00889 | - | Xq26.3 |
| LINC00890 | - | Xq23 |
| LINC00893 | - | Xq28 |
| LINC00894 | - | - |
| LINC00895 | - | 22q11.21 |
| LINC00896 | - | 22q11.21 |
| LINC00898 | - | 22q13.31 |
| LINC00899 | - | 22q13.31 |
| LINC00900 | - | 11q23.3 |
| LINC00905 | - | 19p13.12 |
| LINC00907 | - | 18q12.3 |
| LINC00908 | - | 18q23 |
| LINC00909 | - | 18q22.3 |
| LINC00910 | - | 17q21.31 |
| LINC00913 | - | 2q31.3 |
| LINC00915 | - | 4q28.2 |
| LINC00917 | - | 16q24.1 |
| LINC00920 | - | - |
| LINC00922 | - | 16q21 |
| LINC00923 | - | 15q26.2 |
| LINC00924 | - | 15q26.2 |
| LINC00926 | - | 15q21.3 |
| LINC00935 | - | 12q13.12 |
| LINC00936 | - | 12q21.33 |
| LINC00937 | - | 12p13.31 |
| LINC00938 | - | 12q12 |
| LINC00939 | - | 12q24.31 |
| LINC00941 | - | 12p11.21 |
| LINC00942 | - | 12p13 |
| LINC00943 | - | - |
| LINC00944 | - | 12q24.32 |
| LINC00945 | - | 21q22.11 |
| LINC00950 | - | 9p13.3 |
| LINC00957 | - | 7p13 |
| LINC00958 | - | - |
| LINC00959 | - | 10q26.3 |
| LINC00960 | - | 3p12.3 |
| LINC00961 | - | 9p13.3 |
| LINC00963 | - | - |
| LINC00965 | - | 8p23.1 |
| LINC00968 | - | - |
| LINC00969 | - | 3q29 |
| LINC00970 | - | 1q24.2 |
| LINC00971 | - | 3p12.1 |
| LINC00972 | - | - |
| LINC00973 | - | - |
| LINC00977 | - | 8q24.21 |
| LINC00982 | - | 1p36.32 |
| LINC00984 | - | - |
| LINC00987 | - | 12p13.31 |
| LINC00992 | - | 5q23.1 |
| LINC00993 | - | 10p11.21 |
| LINC00996 | - | 7q36.1 |
| LINC00997 | - | 7p14.3 |
| LINC00998 | - | 7q31.1 |
| LINC00999 | - | 10p11.1 |
| LINC01000 | - | 7q32.1 |
| LINC01002 | - | 19p13.3 |
| LINC01003 | - | 7q36.1 |
| LINC01004 | - | 7q22.1 |
| LINC01005 | - | - |
| LINC01010 | - | 6q23.2 |
| LINC01011 | - | 6p25.2 |
| LINC01012 | - | - |
| LINC01013 | - | - |
| LINC01014 | - | - |
| LINC01015 | - | 6p21.33 |
| LINC01016 | - | - |
| LINC01018 | - | 5p15.31 |
| LINC01020 | - | 5p15.32 |
| LINC01021 | - | 5p14.1 |
| LINC01023 | - | - |
| LINC01024 | - | - |
| LINC01029 | - | 18q23 |
| LINC01033 | - | 5q11.2 |
| LINC01036 | - | 1q31.1 |
| LINC01039 | - | 13q32.3 |
| LINC01046 | - | 13q12.11 |
| LINC01050 | - | 13q14.11 |
| LINC01056 | - | - |
| LINC01057 | - | 1p21.3 |
| LINC01058 | - | 13q12.3 |
| LINC01060 | - | 4q35.2 |
| LINC01061 | - | 4q26 |
| LINC01063 | - | 3q29 |
| LINC01068 | - | 13q31.1 |
| LINC01070 | - | 13q34 |
| LINC01085 | - | 4p15.33 |
| LINC01087 | - | 2q21.1 |
| LINC01088 | - | - |
| LINC01089 | - | 12q24.31 |
| LINC01091 | - | 4q28.1 |
| LINC01094 | - | - |
| LINC01095 | - | - |
| LINC01096 | - | 4p15.33 |
| LINC01097 | - | 4p15.33 |
| LINC01098 | - | 4q34.3 |
| LINC01101 | - | 2q14.2 |
| LINC01102 | - | 2q12.1 |
| LINC01103 | - | 2q12.1 |
| LINC01105 | - | 2p25.2 |
| LINC01106 | - | 2q13 |
| LINC01111 | - | - |
| LINC01114 | - | 2q12.1 |
| LINC01115 | - | 2p25.3 |
| LINC01116 | - | 2q31.1 |
| LINC01118 | - | 2p21 |
| LINC01119 | - | 2p21 |
| LINC01120 | - | 2q21.1 |
| LINC01121 | - | 2p21 |
| LINC01122 | - | 2p16.1 |
| LINC01123 | - | 2q13 |
| LINC01124 | - | 2q31.1 |
| LINC01125 | - | 2q11.2 |
| LINC01126 | - | 2p21 |
| LINC01128 | - | 1p36.33 |
| LINC01132 | - | 1q42-q43 |
| LINC01133 | - | 1q21-q23 |
| LINC01134 | - | 1p36.32 |
| LINC01137 | - | 1p34.3 |
| LINC01138 | - | 1q21.1 |
| LINC01139 | - | 1q43 |
| LINC01140 | - | 1p22.3 |
| LINC01142 | - | 1q24.2 |
| LINC01146 | - | 14q31.3 |
| LINC01150 | - | 11p15.5 |
| LINC01151 | - | 8q24.13 |
| LINC01152 | - | 17q24.3 |
| LINC01158 | - | 2q12 |
| LINC01159 | - | 2q12.1 |
| LINC01163 | - | 10q26.2 |
| LINC01164 | - | 10q26.3 |
| LINC01166 | - | 10q26.3 |
| LINC01169 | - | 15q22.31 |
| LINC01179 | - | 4q32.3 |
| LINC01182 | - | 4p15.33 |
| LINC01184 | - | 5q23.3 |
| LINC01186 | - | Xp11.3 |
| LINC01191 | - | 2q14.1 |
| LINC01192 | - | 3q26.1 |
| LINC01193 | - | 15q11.2 |
| LINC01194 | - | - |
| LINC01197 | - | 15q26.2 |
| LINC01203 | - | Xp22.2 |
| LINC01204 | - | - |
| LINC01205 | - | 3q13.13 |
| LINC01207 | - | 4q32 |
| LINC01212 | - | - |
| LINC01213 | - | - |
| LINC01215 | - | - |
| LINC01220 | - | 14q24.3 |
| LINC01222 | - | 1q32.1 |
| LINC01225 | - | 1p35.2 |
| LINC01226 | - | 1p35.2 |
| LINC01230 | - | 9p24.3 |
| LINC01231 | - | 9p24.2 |
| LINC01232 | - | 13q32.3 |
| LINC01237 | - | 2q37.3 |
| LINC01239 | - | 9p21.3 |
| LINC01242 | - | 9p21.1 |
| LINC01252 | - | 12p13.2 |
| LINC01258 | - | - |
| LINC01260 | - | 20q13.12 |
| LINC01265 | - | 5p13.1 |
| LINC01268 | - | 6q21 |
| LINC01270 | - | 20q13.13 |
| LINC01271 | - | - |
| LINC01273 | - | - |
| LINC01278 | - | Xq11.1 |
| LINC01281 | - | Xp11.4 |
| LINC01282 | - | Xp11.4 |
| LINC01285 | - | Xq24 |
| LINC01305 | - | 2q31.1 |
| LINC01315 | - | 22q13.2 |
| LINC01330 | - | 3q26.1 |
| LINC01333 | - | 5q13.3 |
| LINC01338 | - | 5q14.2 |
| LINC01340 | - | 5q15 |
| LINC01341 | - | 1q44 |
| LINC01346 | - | 1p36.32 |
| LINC01347 | - | 1q43 |
| LINC01351 | - | - |
| LINC01354 | - | 1q42-q43 |
| LINC01358 | - | - |
| LINC01359 | - | - |
| LINC01360 | - | - |
| LINC01366 | - | 5q35.1 |
| LINC01377 | - | 5p15.33 |
| LINC01384 | - | - |
| LINC01391 | - | 3q22.3 |
| LINC01393 | - | 7q31.2 |
| LINC01395 | - | 11q24.3 |
| LINC01398 | - | 1p33 |
| LINC01405 | - | 12q24.11 |
| LINC01410 | - | 9q13 |
| LINC01419 | - | 8q21.13 |
| LINC01420 | - | Xp11.1 |
| LINC01422 | - | 22q12.1 |
| LINC01423 | - | 21q22 |
| LINC01424 | - | - |
| LINC01425 | - | - |
| LINC01426 | - | - |
| LINC01427 | - | 20p11.22 |
| LINC01432 | - | 20p11.22 |
| LINC01433 | - | 20p13 |
| LINC01441 | - | - |
| LINC01444 | - | 18p11.21 |
| LINC01445 | - | 7p11.2 |
| LINC01446 | - | 7p12.1 |
| LINC01447 | - | - |
| LINC01448 | - | - |
| LINC01465 | - | 12q14.1 |
| LINC01502 | - | 9q34.3 |
| LINC01531 | - | 19q13.12 |
| LINC01532 | - | - |
| LINC01538 | - | 18q22.1 |
| LINC01539 | - | - |
| LINC01541 | - | - |
| LINC01544 | - | - |
| LINC01545 | - | Xp11.3 |
| LINC01547 | - | 21q22.3 |
| LINC01549 | - | 21q21.1 |
| LINC01550 | - | 14q32.2 |
| LINC01551 | - | 14q12 |
| LINC01553 | - | 10q21.2 |
| LINC01555 | - | 1p22.3 |
| LINC01558 | - | 6q27 |
| LINC01559 | - | 12p13.1 |
| LINC01565 | - | 3q21 |
| LINC01569 | - | - |
| LINC01578 | - | - |
| LINC01588 | - | 14q21.3 |
| LINC01590 | - | 6q15-q16.1 |
| LINC01592 | - | - |
| LINC01599 | - | 14q21.3 |
| LINC01606 | - | - |
| LINC01619 | - | 12q21.33 |
| LINC01622 | - | 6p25.3 |
| LINC01625 | - | 6q24.1 |
| LINCR-0001 | - | 8p23.1 |
| LINCR-0002 | - | 3q28 |
| LINGO1 | protein kinase B signaling cascade; nerve growth factor receptor signaling pathway; negative regulation of oligodendrocyte differentiation; negative regulation of axonogenesis; central nervous system neuron development; neuron projection development; regulation of axonogenesis | 15q24.3 |
| LINGO2 | - | 9p21.2 |
| LINGO3 | - | 19p13.3 |
| LINGO4 | - | 1q21.3 |
| LINS1 | - | 15q26.3 |
| LIPA | lung development; tissue remodeling; cytokine production; sterol metabolic process; homeostasis of number of cells within a tissue; lipid catabolic process; cell proliferation; inflammatory response; fatty acid metabolic process; lipid metabolic process; cell morphogenesis | 10q23.2-q23.3 |
| LIPC | cholesterol homeostasis; triglyceride homeostasis; reverse cholesterol transport; phosphatidylcholine catabolic process; chylomicron remnant clearance; high-density lipoprotein particle remodeling; low-density lipoprotein particle remodeling; intermediate-density lipoprotein particle remodeling; triglyceride catabolic process; lipid catabolic process; cholesterol metabolic process; fatty acid biosynthetic process; very-low-density lipoprotein particle remodeling | 15q21-q23 |
| LIPE | lipid metabolic process; diacylglycerol catabolic process; small molecule metabolic process; response to drug; triglyceride catabolic process; lipid catabolic process; cholesterol metabolic process; steroid metabolic process; female pregnancy; protein phosphorylation | 19q13.2 |
| LIPE-AS1 | - | - |
| LIPG | positive regulation of high-density lipoprotein particle clearance; lipid metabolic process; response to nutrient; lipid catabolic process; cell proliferation; phospholipid catabolic process; regulation of lipoprotein metabolic process; reverse cholesterol transport; cholesterol homeostasis; high-density lipoprotein particle remodeling; phospholipid homeostasis; positive regulation of cholesterol transport | 18q21.1 |
| LIPH | lipid catabolic process | 3q27 |
| LIPJ | lipid catabolic process | 10q23.31 |
| LIPK | lipid catabolic process | 10q23.31 |
| LIPM | lipid catabolic process | 10q23.31 |
| LIPN | lipid catabolic process | 10q23.31 |
| LIPT1 | protein lipoylation; lipid metabolic process; protein modification process | 2q11.2 |
| LIPT1P1 | - | 13q33.1 |
| LIPT2 | protein modification process; lipoate biosynthetic process | 11q13.4 |
| LITAF | signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade; apoptotic process; regulation of transcription from RNA polymerase II promoter | 16p13.13 |
| LIX1 | - | 5q15 |
| LIX1L | - | 1q21.1 |
| LLGL1 | maintenance of apical/basal cell polarity; exocytosis; cortical actin cytoskeleton organization; protein complex assembly | 17p11.2 |
| LLGL2 | cell division; regulation of establishment or maintenance of cell polarity; cell cycle; exocytosis | 17q25.1 |
| LLPH | - | 12q14.3 |
| LMAN1 | blood coagulation; positive regulation of organelle organization; protein transport; vesicle-mediated transport; protein N-linked glycosylation via asparagine; protein exit from endoplasmic reticulum; early endosome to Golgi transport; post-translational protein modification; cellular protein metabolic process; Golgi organization; ER to Golgi vesicle-mediated transport; protein folding | 18q21.3-q22 |
| LMAN1L | - | 15q24.1 |
| LMAN2 | protein transport | 5q35.3 |
| LMAN2L | protein transport; ER to Golgi vesicle-mediated transport; protein folding | 2q11.2 |
| LMBR1 | embryonic digit morphogenesis | 7q36 |
| LMBR1L | endocytosis | 12q13.12 |
| LMBRD1 | interspecies interaction between organisms; transport | 6q13 |
| LMBRD2 | - | 5p13.2 |
| LMCD1 | regulation of cardiac muscle hypertrophy; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; positive regulation of calcineurin-NFAT signaling cascade | 3p26-p24 |
| LMCD1-AS1 | - | 3p26.1 |
| LMF1 | positive regulation of lipoprotein lipase activity; ER to Golgi vesicle-mediated transport; protein secretion; protein glycosylation in Golgi; chylomicron remnant clearance; regulation of triglyceride metabolic process; regulation of cholesterol metabolic process; protein maturation | 16p13.3 |
| LMF2 | - | 22q13.33 |
| LMLN | cell division; mitosis; cell cycle; proteolysis; cell adhesion | 3q29 |
| LMNA | protein localization to nucleus; cellular response to hypoxia; sterol regulatory element binding protein import into nucleus; apoptotic process; cellular component disassembly involved in apoptosis; activation of signaling protein activity involved in unfolded protein response; nuclear envelope organization; spermatogenesis; muscle organ development; regulation of cell migration; establishment or maintenance of microtubule cytoskeleton polarity; endoplasmic reticulum unfolded protein response; ventricular cardiac muscle cell development; positive regulation of cell aging; regulation of apoptotic process | 1q22 |
| LMNB1 | apoptotic process; cellular component disassembly involved in apoptosis | 5q23.2 |
| LMNB2 | - | 19p13.3 |
| LMNTD1 | cell proliferation | 12p12.1 |
| LMNTD2 | - | 11p15.5 |
| LMO1 | negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter | 11p15 |
| LMO2 | positive regulation of transcription from RNA polymerase II promoter; cellular response to thyroid hormone stimulus; negative regulation of erythrocyte differentiation; multicellular organismal development; transcription from RNA polymerase II promoter | 11p13 |
| LMO3 | regulation of transcription, DNA-dependent | 12p12.3 |
| LMO4 | ventral spinal cord interneuron differentiation; negative regulation of protein complex assembly; regulation of cell fate specification; positive regulation of transcription from RNA polymerase II promoter; thymus development; regulation of cell activation; spinal cord association neuron differentiation; neural tube closure; ventricular septum development; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; spinal cord motor neuron differentiation | 1p22.3 |
| LMO7 | protein ubiquitination | 13q22.2 |
| LMO7-AS1 | - | 13q22.2 |
| LMO7DN | - | 13q22.2 |
| LMOD1 | muscle contraction | 1q32 |
| LMOD2 | - | 7q31.32 |
| LMOD3 | - | 3p14.1 |
| LMTK2 | transferrin transport; receptor recycling; protein phosphorylation; peptidyl-serine phosphorylation; peptidyl-threonine phosphorylation; endocytic recycling; protein autophosphorylation; early endosome to late endosome transport | 7q21.3 |
| LMTK3 | negative regulation of phosphatase activity | 19q13.33 |
| LMX1A | regulation of cell growth; multicellular organismal development; axon guidance; dentate gyrus development; cerebellum development; central nervous system neuron differentiation; negative regulation of neuron differentiation | 1q24.1 |
| LMX1B | multicellular organismal development; in utero embryonic development; regulation of transcription, DNA-dependent; dorsal/ventral pattern formation; neuron differentiation | 9q33.3 |
| LNP1 | - | 3q12.2 |
| LNPEP | antigen processing and presentation of exogenous peptide antigen via MHC class I; protein polyubiquitination; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; proteolysis; cell-cell signaling; female pregnancy; protein catabolic process | 5q15 |
| LNX1 | protein homooligomerization; protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 4q12 |
| LNX2 | protein homooligomerization | 13q12.2 |
| LOC100049716 | - | 12p13.33 |
| LOC100101148 | - | 7q11.2 |
| LOC100101246 | - | 12q |
| LOC100113375 | - | 22q |
| LOC100124332 | - | 10q |
| LOC100124402 | - | 7q |
| LOC100125918 | - | - |
| LOC100126784 | - | 11p15.1 |
| LOC100127886 | - | 20q12 |
| LOC100127902 | - | Xq12 |
| LOC100127904 | - | 20q13.12 |
| LOC100127909 | - | 18q21.1 |
| LOC100127910 | - | 1q24.2 |
| LOC100127947 | - | 1p34.3 |
| LOC100127967 | - | 12q13.13 |
| LOC100127972 | - | 19q13.12 |
| LOC100127974 | - | 12p13.31 |
| LOC100127978 | - | 12q13.11 |
| LOC100127991 | - | 7q36.3 |
| LOC100128001 | - | 11p15.5 |
| LOC100128007 | - | 17p13.1 |
| LOC100128010 | - | 17q21.32 |
| LOC100128019 | - | 7p11.2 |
| LOC100128028 | - | 20q13.12 |
| LOC100128035 | - | 3q13.2 |
| LOC100128056 | - | 7q31.1 |
| LOC100128063 | - | 5q35.2 |
| LOC100128076 | - | 9q22.31 |
| LOC100128077 | - | 9q34.11 |
| LOC100128079 | - | 16p11.2 |
| LOC100128108 | - | 15q26.3 |
| LOC100128109 | - | 12p12.3 |
| LOC100128121 | - | 5q31.3 |
| LOC100128131 | - | 2q12.1 |
| LOC100128164 | - | 3q26.2 |
| LOC100128170 | - | 20q13.12 |
| LOC100128175 | - | 3q13.31 |
| LOC100128198 | - | 21q22.11 |
| LOC100128219 | - | 18p11.23 |
| LOC100128233 | - | 14q23.3 |
| LOC100128239 | - | 11q25 |
| LOC100128242 | - | 11q24.1 |
| LOC100128276 | - | 12q24.33 |
| LOC100128281 | - | 17p13.1 |
| LOC100128288 | - | 17p13.1 |
| LOC100128297 | - | 4q21.1 |
| LOC100128310 | - | 20q13.33 |
| LOC100128317 | - | 7q21.11 |
| LOC100128320 | - | 10q24.1 |
| LOC100128326 | - | 7p11.2 |
| LOC100128333 | - | 2p14 |
| LOC100128334 | - | 7q22.1 |
| LOC100128340 | - | 5q35.3 |
| LOC100128343 | - | 14q32.33 |
| LOC100128348 | - | 16p11.2 |
| LOC100128355 | - | Xp22.33 |
| LOC100128361 | - | 9q22.31 |
| LOC100128366 | - | 14q32.33 |
| LOC100128373 | - | 14q32.31 |
| LOC100128379 | - | 6p21.2 |
| LOC100128386 | - | 11q22.1 |
| LOC100128398 | - | 19q13.43 |
| LOC100128400 | - | 22q13.1 |
| LOC100128401 | - | 22q12.1 |
| LOC100128402 | - | 12p13.31 |
| LOC100128413 | - | 2q13 |
| LOC100128416 | - | Xq26.3 |
| LOC100128441 | - | 8p12 |
| LOC100128482 | - | 5q35.1 |
| LOC100128494 | - | 11q13.4 |
| LOC100128498 | - | 16q22.1 |
| LOC100128517 | - | 6p23 |
| LOC100128546 | - | Xq24 |
| LOC100128551 | - | 6q25.3 |
| LOC100128554 | - | 12q24.32 |
| LOC100128563 | - | 2q37.3 |
| LOC100128588 | - | 6q21 |
| LOC100128591 | - | 20q13.12 |
| LOC100128607 | - | 2p14 |
| LOC100128622 | - | 5q35.3 |
| LOC100128644 | - | 3p25.1 |
| LOC100128651 | - | 4p16.1 |
| LOC100128653 | - | 7p22.3 |
| LOC100128668 | - | 20p12.3 |
| LOC100128670 | - | 9q22.2 |
| LOC100128673 | - | 12q21.1 |
| LOC100128686 | - | 8q11.21 |
| LOC100128697 | - | 10q26.3 |
| LOC100128699 | - | 2q14.3 |
| LOC100128703 | - | 11p15.5 |
| LOC100128714 | - | 15q12 |
| LOC100128721 | - | 15q24.2 |
| LOC100128751 | - | 1q24.2 |
| LOC100128772 | - | 3p25.1 |
| LOC100128775 | - | 1p31.1 |
| LOC100128792 | - | 11q23.3 |
| LOC100128816 | - | 12p13.32 |
| LOC100128830 | - | 10q26.3 |
| LOC100128840 | - | 12q24.33 |
| LOC100128843 | - | 12q24.33 |
| LOC100128851 | - | 17p11.2 |
| LOC100128882 | - | 16q24.2 |
| LOC100128885 | - | 7q11.21 |
| LOC100128905 | - | 2q31.1 |
| LOC100128908 | - | 14q11.2 |
| LOC100128909 | - | 9q22.2-q22.31 |
| LOC100128926 | - | 18p11.32 |
| LOC100128950 | - | 3q29 |
| LOC100128964 | - | 2q12.3 |
| LOC100128974 | - | 15q14 |
| LOC100128979 | - | 15q22.2 |
| LOC100128982 | - | 5q11.2 |
| LOC100128988 | - | 20q12 |
| LOC100128993 | - | 8p21.3 |
| LOC100129027 | - | 21q22.3 |
| LOC100129033 | - | 6p25.1 |
| LOC100129034 | - | 9q33.3 |
| LOC100129042 | - | 1p36.21 |
| LOC100129046 | - | 1p22.1 |
| LOC100129055 | - | 10p11.1 |
| LOC100129060 | - | 3p21.31 |
| LOC100129069 | - | 11q24.2 |
| LOC100129078 | - | 12q12 |
| LOC100129089 | - | 18q23 |
| LOC100129096 | - | 8q13.2 |
| LOC100129098 | - | 8q11.23 |
| LOC100129100 | - | 8q21.3 |
| LOC100129107 | - | 9p24.1 |
| LOC100129110 | - | 1p36.33 |
| LOC100129111 | - | 11p15.4 |
| LOC100129112 | - | 17q23.2 |
| LOC100129115 | - | 17q21.31 |
| LOC100129118 | - | 19p13.12 |
| LOC100129125 | - | 17p11.2 |
| LOC100129138 | - | 1p21.1 |
| LOC100129143 | - | 18q21.1 |
| LOC100129148 | - | 7q34 |
| LOC100129171 | - | 2q36.1 |
| LOC100129175 | - | 2q35 |
| LOC100129186 | - | 5p12 |
| LOC100129203 | - | 11q21 |
| LOC100129215 | - | 16q24.2 |
| LOC100129223 | - | 12p13.32 |
| LOC100129233 | - | 5q21.3 |
| LOC100129254 | - | 22q11.21 |
| LOC100129275 | - | 3q13.33 |
| LOC100129280 | - | 7q21.3 |
| LOC100129297 | - | 3q13.2 |
| LOC100129307 | - | 13q22.3 |
| LOC100129322 | - | 6p24.1 |
| LOC100129324 | - | 16q22.1 |
| LOC100129345 | - | 14q32.2 |
| LOC100129363 | - | 15q26.1 |
| LOC100129367 | - | 8q24.23 |
| LOC100129370 | - | 8q23.2 |
| LOC100129373 | - | Xq28 |
| LOC100129380 | - | 12q24.31 |
| LOC100129381 | - | 1p36.33 |
| LOC100129393 | - | 15q15.1 |
| LOC100129395 | - | 17q12 |
| LOC100129397 | - | 15q21.1 |
| LOC100129406 | - | 1p13.2 |
| LOC100129408 | - | 18q21.31 |
| LOC100129434 | - | 2p16.1 |
| LOC100129447 | - | 12q24.13 |
| LOC100129449 | - | 2q23.3 |
| LOC100129455 | - | 2q31.1 |
| LOC100129456 | - | 2q31.1 |
| LOC100129461 | - | 6p25.1 |
| LOC100129473 | - | 11q12.2 |
| LOC100129476 | - | 1p36.31 |
| LOC100129478 | - | 16p13.3 |
| LOC100129498 | - | 11q23.3 |
| LOC100129516 | - | 3q29 |
| LOC100129520 | - | Xq25 |
| LOC100129534 | - | 1p36.33 |
| LOC100129540 | - | 15q25.1 |
| LOC100129550 | - | 3q21.1 |
| LOC100129554 | - | 6q24.1 |
| LOC100129566 | - | 5q13.3 |
| LOC100129573 | - | 1q25.3 |
| LOC100129596 | - | 8q24.3 |
| LOC100129603 | - | 7p22.2 |
| LOC100129620 | - | 1p21.3 |
| LOC100129636 | - | 6p22.1 |
| LOC100129637 | - | 16q24.2 |
| LOC100129648 | - | 22q13.2 |
| LOC100129675 | - | 2q37.3 |
| LOC100129697 | - | 16q24.3 |
| LOC100129707 | - | 3q13.33 |
| LOC100129717 | - | 8p21.2 |
| LOC100129721 | - | 10q21.1 |
| LOC100129724 | - | 2p23.3 |
| LOC100129763 | - | 4p16.1 |
| LOC100129774 | - | 18p11.32 |
| LOC100129775 | - | 11q13.5 |
| LOC100129781 | - | 16p13.12 |
| LOC100129785 | - | 9q34.11 |
| LOC100129831 | - | 19p13.3 |
| LOC100129840 | - | 15q23 |
| LOC100129844 | - | 6q24.1 |
| LOC100129846 | - | 8p12 |
| LOC100129852 | - | 6q16.3 |
| LOC100129869 | - | 20q13.32 |
| LOC100129880 | - | 12q23.2 |
| LOC100129884 | - | 13q22.1 |
| LOC100129888 | - | 2q33.1 |
| LOC100129917 | - | 4p16.3 |
| LOC100129924 | - | 1p34.2 |
| LOC100129931 | - | 4p16.1 |
| LOC100129935 | - | 19q13.2 |
| LOC100129940 | - | 12q14.3 |
| LOC100129942 | - | 15q26.1 |
| LOC100129995 | - | 2p23.2 |
| LOC100130027 | - | 8q24.3 |
| LOC100130039 | - | 9q13 |
| LOC100130057 | - | 16q12.1 |
| LOC100130078 | - | 17q25.3 |
| LOC100130097 | - | 1q44 |
| LOC100130100 | - | 2q13 |
| LOC100130111 | - | 15q13.1 |
| LOC100130156 | - | 20q13.31 |
| LOC100130157 | - | 20q13.12 |
| LOC100130169 | - | 7q34 |
| LOC100130176 | - | Xq22.2 |
| LOC100130193 | - | 1p36.13 |
| LOC100130207 | - | 3p26.2 |
| LOC100130256 | - | - |
| LOC100130269 | - | 22q12.3 |
| LOC100130270 | - | 1p31.3 |
| LOC100130276 | - | 16p13.13 |
| LOC100130285 | - | 16p13.3 |
| LOC100130331 | - | 1q43 |
| LOC100130357 | - | 6p24.1 |
| LOC100130370 | - | 17q25.3 |
| LOC100130373 | - | 20q11.23 |
| LOC100130376 | - | 8q24.21 |
| LOC100130403 | - | 6p12.1 |
| LOC100130417 | - | 1p36.33 |
| LOC100130419 | - | 19q13.32 |
| LOC100130428 | - | 11q24.2 |
| LOC100130429 | - | 2p21 |
| LOC100130442 | - | 19p13.11 |
| LOC100130453 | - | 18q23 |
| LOC100130456 | - | 7p22.3 |
| LOC100130458 | - | 9p13.2 |
| LOC100130463 | - | 13q34 |
| LOC100130476 | - | 6q23.3 |
| LOC100130497 | - | 1p31.3 |
| LOC100130502 | - | 2p21 |
| LOC100130520 | - | 17q25.1 |
| LOC100130531 | - | 1p22.1 |
| LOC100130540 | - | 3q21.3 |
| LOC100130542 | - | 14q24.1 |
| LOC100130547 | - | 9q34.3 |
| LOC100130548 | - | 9q34.2 |
| LOC100130573 | - | 1q32.1 |
| LOC100130582 | - | 12p13.31 |
| LOC100130587 | - | 20q13.33 |
| LOC100130597 | - | 21q22.3 |
| LOC100130627 | - | 1p34.3 |
| LOC100130632 | - | 19q13.11 |
| LOC100130642 | - | 2p21 |
| LOC100130654 | - | 17q21.2 |
| LOC100130657 | - | 17q24.2 |
| LOC100130673 | - | 7p14.3 |
| LOC100130674 | - | 4p15.1 |
| LOC100130691 | - | 2q31.2 |
| LOC100130698 | - | 10q23.1 |
| LOC100130705 | - | 7q32.1 |
| LOC100130741 | - | 7q36.3 |
| LOC100130744 | - | 5p15.2 |
| LOC100130746 | - | 5p14.2 |
| LOC100130748 | - | 5p15.33 |
| LOC100130761 | - | 2q24.2 |
| LOC100130817 | - | 16q13 |
| LOC100130841 | - | 2p24.1 |
| LOC100130856 | - | 19p13.3 |
| LOC100130857 | - | 15q13.3 |
| LOC100130865 | - | 4p16.3 |
| LOC100130872 | - | 4p16.3 |
| LOC100130876 | - | 17p13.3 |
| LOC100130881 | - | 10q11.21 |
| LOC100130887 | - | 10q26.13 |
| LOC100130913 | - | 7p11.2 |
| LOC100130916 | - | 9q22.33 |
| LOC100130920 | - | 10p15.1 |
| LOC100130927 | - | 6p25.2 |
| LOC100130930 | - | 19p13.3 |
| LOC100130931 | - | 17q11.2 |
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| LOC653375 | - | 7q11.23 |
| LOC653406 | - | 5q13.2 |
| LOC653435 | - | 7q11.21 |
| LOC653458 | - | 9q13 |
| LOC653501 | - | 9p13.1 |
| LOC653557 | - | 16p11.2 |
| LOC653581 | - | 12q14.2 |
| LOC653739 | - | 7q33 |
| LOC654342 | - | 2p11.1 |
| LOC654841 | - | 2q36-q37 |
| LOC692247 | - | 11p15.5 |
| LOC723805 | - | 19q13.2 |
| LOC727713 | - | 2q22.3 |
| LOC727721 | - | 1p36.22 |
| LOC727775 | - | - |
| LOC727799 | - | 7p22.3 |
| LOC727808 | - | 15q13.1 |
| LOC727820 | - | 1q21.1 |
| LOC727896 | - | 18p11.31 |
| LOC727916 | - | 6q12 |
| LOC727919 | - | 2p24.1 |
| LOC727930 | - | 5q11.2 |
| LOC727941 | - | 1p13.3 |
| LOC727980 | - | 14q11.2 |
| LOC727983 | - | 22q11.21 |
| LOC728024 | - | 8p11.23 |
| LOC728026 | - | 9q22.32 |
| LOC728040 | - | 4q13.3 |
| LOC728048 | - | 4q13.2 |
| LOC728056 | - | 20q13.33 |
| LOC728061 | - | 9q22.32 |
| LOC728084 | - | 12q21.33 |
| LOC728093 | - | 5q21.1 |
| LOC728098 | - | 6q16.3 |
| LOC728099 | - | 13q12.11 |
| LOC728175 | - | 4q35.1 |
| LOC728254 | - | 5q22.3 |
| LOC728323 | - | 2q37.3 |
| LOC728344 | - | 6p25.2 |
| LOC728353 | - | 14q11.2 |
| LOC728376 | - | 7p11.2 |
| LOC728392 | - | 17p13.2 |
| LOC728417 | - | 1q41 |
| LOC728433 | - | 9p11.2 |
| LOC728445 | - | 8p11.21 |
| LOC728470 | - | Xq26.3 |
| LOC728477 | - | 15q26.1 |
| LOC728485 | - | 19q13.12 |
| LOC728488 | - | 5q13.2 |
| LOC728506 | - | 5q13.2 |
| LOC728519 | - | 5q13.2 |
| LOC728524 | - | 7q11.23 |
| LOC728533 | - | 19q13.12 |
| LOC728535 | - | 5q13.2 |
| LOC728554 | - | 5q35.3 |
| LOC728573 | - | 20p12.2 |
| LOC728586 | - | 5q23.2 |
| LOC728611 | - | 9q13 |
| LOC728613 | - | 5p15.33 |
| LOC728688 | - | 12p12.2 |
| LOC728715 | - | 12p13.31 |
| LOC728730 | - | 2p22.1 |
| LOC728739 | - | 12q23.3 |
| LOC728743 | - | 7q36.1 |
| LOC728752 | - | 19q13.12 |
| LOC728755 | - | 14q12 |
| LOC728763 | - | 2q37.3 |
| LOC728769 | - | 5q14.1 |
| LOC728811 | - | 4q13.2 |
| LOC728825 | - | Xq23 |
| LOC728868 | - | 8p23.1 |
| LOC728875 | - | 1q21.1 |
| LOC728903 | - | 9p11.2 |
| LOC728931 | - | 5p12 |
| LOC728989 | - | 1q21.1 |
| LOC728996 | - | 12p12.3 |
| LOC729008 | - | 17q21.31 |
| LOC729040 | - | 5q14.3 |
| LOC729047 | - | 10q11.23 |
| LOC729086 | - | 1q21.2 |
| LOC729088 | - | 6q27 |
| LOC729141 | - | 2q32.1 |
| LOC729162 | - | Xp22.33 |
| LOC729164 | - | 2q13 |
| LOC729173 | - | 11q23.3 |
| LOC729200 | - | 6q25.1 |
| LOC729217 | - | 16q21 |
| LOC729275 | - | Xp11.23 |
| LOC729291 | - | 12p11.22 |
| LOC729296 | - | 20q13.33 |
| LOC729307 | - | 4q28.3 |
| LOC729317 | - | 2p14 |
| LOC729324 | - | 2p14 |
| LOC729348 | - | 2p14 |
| LOC729356 | - | 1p36.21 |
| LOC729409 | - | 12q15 |
| LOC729461 | - | 22q11.21 |
| LOC729468 | - | 2q13 |
| LOC729496 | - | 6q25.1 |
| LOC729497 | - | 4q31.21 |
| LOC729506 | - | 5p15.31 |
| LOC729603 | - | 6q25.3 |
| LOC729652 | - | 16p13.3 |
| LOC729668 | - | 10p11.23 |
| LOC729680 | - | 13q12.11 |
| LOC729681 | - | 6q27 |
| LOC729683 | - | 17q23.3 |
| LOC729722 | - | 15q11.1 |
| LOC729732 | - | 8p23.1 |
| LOC729737 | - | 1p36.33 |
| LOC729770 | - | 2q36.1 |
| LOC729815 | - | 10q22.3 |
| LOC729839 | - | 17q12 |
| LOC729860 | - | 11q25 |
| LOC729870 | - | 4q31.3 |
| LOC729887 | - | 16q23.3 |
| LOC729915 | - | 5p13.2 |
| LOC729930 | - | 1p22.2 |
| LOC729945 | - | 16p13.13 |
| LOC729960 | - | 11p11.12 |
| LOC729970 | - | 1p21.3 |
| LOC729973 | - | 1p36.11 |
| LOC729987 | - | 1p21.3 |
| LOC729998 | - | 7q33 |
| LOC730069 | - | 2q37.1 |
| LOC730098 | - | 9p13.3 |
| LOC730100 | - | 2p16.3 |
| LOC730101 | - | 6p12.2 |
| LOC730102 | - | 1q25.2 |
| LOC730110 | - | 9p13.3 |
| LOC730183 | - | 16p11.2 |
| LOC730202 | - | 14q32.2 |
| LOC730257 | - | 1q21.1 |
| LOC730338 | - | 7p12.3 |
| LOC730961 | - | - |
| LOC730974 | - | 5p12 |
| LOC731157 | - | 5q14.3 |
| LOC731755 | - | 3q23 |
| LOC732210 | - | 18p11.21 |
| LOC732229 | - | 19q13.2 |
| LOC732360 | - | - |
| LOC732538 | - | 17q24.2 |
| LOC780529 | - | 13q31 |
| LOC791096 | - | Xp11.2 |
| LOC791126 | - | 18q12.2 |
| LOC81691 | - | 16p12.3 |
| LOC90246 | - | 3q21.3 |
| LOC90768 | - | 4q34.3 |
| LOC90784 | - | 2p11.2 |
| LOC91450 | - | 15q24.3 |
| LOC91548 | - | 1q32.3 |
| LOC93463 | - | 2q37.3 |
| LOC93622 | - | 4p16.1 |
| LOH12CR2 | - | 12p13.2 |
| LONP1 | protein homooligomerization; response to hypoxia; misfolded or incompletely synthesized protein catabolic process; mitochondrion organization; mitochondrial DNA metabolic process; cellular response to oxidative stress; proteolysis involved in cellular protein catabolic process; oxidation-dependent protein catabolic process; mitochondrial genome maintenance | 19p13.2 |
| LONP2 | misfolded or incompletely synthesized protein catabolic process; peroxisome organization; protein targeting to peroxisome; regulation of fatty acid beta-oxidation; response to organic cyclic compound; signal peptide processing; proteolysis | 16q12.1 |
| LONRF1 | proteolysis | 8p23.1 |
| LONRF2 | proteolysis | 2q11.2 |
| LONRF3 | proteolysis | Xq24 |
| LOR | keratinization; keratinocyte differentiation; peptide cross-linking | 1q21 |
| LOX | protein modification process; collagen fibril organization; lung development; wound healing; blood vessel development; response to drug; elastic fiber assembly; response to steroid hormone stimulus | 5q23.2 |
| LOXHD1 | sensory perception of sound | 18q21.1 |
| LOXL1 | protein deamination; oxidation-reduction process | 15q22 |
| LOXL1-AS1 | - | 15q24.1 |
| LOXL2 | protein modification process; aging; cell adhesion | 8p21.3 |
| LOXL3 | oxidation-reduction process | 2p13 |
| LOXL4 | - | 10q24 |
| LPA | lipid transport; transport; lipid metabolic process; proteolysis; receptor-mediated endocytosis; blood circulation; negative regulation of endopeptidase activity; lipoprotein metabolic process; small molecule metabolic process | 6q26 |
| LPAL2 | - | 6q26-q27 |
| LPAR1 | bleb assembly; neurogenesis; negative regulation of neuron projection development; positive regulation of cell death; elevation of cytosolic calcium ion concentration; activation of phospholipase C activity; G-protein coupled receptor signaling pathway; activation of MAPK activity; positive regulation of smooth muscle cell chemotaxis; positive regulation of Rho protein signal transduction; myelination; positive regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of MAPK cascade; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; positive regulation of dendritic spine development; cellular response to oxygen levels | 9q31.3 |
| LPAR2 | positive regulation of Rho protein signal transduction; activation of MAPK activity; G-protein coupled receptor signaling pathway; activation of phospholipase C activity; elevation of cytosolic calcium ion concentration; positive regulation of MAPK cascade | 19p12 |
| LPAR3 | positive regulation of calcium ion transport; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; positive regulation of MAPK cascade; bleb assembly; synaptic transmission; elevation of cytosolic calcium ion concentration; G-protein signaling, coupled to cyclic nucleotide second messenger; activation of MAPK activity | 1p22.3 |
| LPAR4 | G-protein coupled receptor signaling pathway | Xq21.1 |
| LPAR5 | - | 12p13.31 |
| LPAR6 | G-protein coupled receptor signaling pathway | 13q14 |
| LPCAT1 | phospholipid biosynthetic process; retina development in camera-type eye; metabolic process | 5p15.33 |
| LPCAT2 | cellular membrane organization; phospholipid biosynthetic process; metabolic process; platelet activating factor biosynthetic process | 16q12.2 |
| LPCAT3 | phospholipid biosynthetic process | 12p13 |
| LPCAT4 | phospholipid biosynthetic process; metabolic process | 15q14 |
| LPGAT1 | metabolic process; phospholipid biosynthetic process | 1q32 |
| LPIN1 | cellular response to insulin stimulus; small molecule metabolic process; regulation of transcription, DNA-dependent; cellular lipid metabolic process; organ regeneration; triglyceride mobilization; fatty acid catabolic process; triglyceride biosynthetic process | 2p25.1 |
| LPIN2 | positive regulation of transcription from RNA polymerase II promoter; small molecule metabolic process; regulation of transcription, DNA-dependent; lipid metabolic process; fatty acid metabolic process; dephosphorylation; triglyceride biosynthetic process; cellular lipid metabolic process | 18p11.31 |
| LPIN3 | lipid metabolic process; fatty acid metabolic process; dephosphorylation | 20q12 |
| LPL | positive regulation of cholesterol storage; lipid metabolic process; fatty acid biosynthetic process; triglyceride metabolic process; phospholipid metabolic process; positive regulation of macrophage derived foam cell differentiation; positive regulation of sequestering of triglyceride; lipid catabolic process; triglyceride biosynthetic process; triglyceride catabolic process; chylomicron remodeling; very-low-density lipoprotein particle remodeling; lipoprotein metabolic process; response to drug; small molecule metabolic process; triglyceride homeostasis | 8p22 |
| LPO | response to oxidative stress; hydrogen peroxide catabolic process | 17q23.1 |
| LPP | cell adhesion | 3q28 |
| LPP-AS2 | - | 3q27.3 |
| LPXN | protein complex assembly; cell adhesion; negative regulation of cell adhesion; signal transduction; negative regulation of B cell receptor signaling pathway | 11q12.1 |
| LRAT | steroid metabolic process; retinoid metabolic process; visual perception; small molecule metabolic process; response to stimulus | 4q32.1 |
| LRBA | - | 4q31.3 |
| LRCH1 | - | 13q14.11 |
| LRCH2 | - | Xq23 |
| LRCH3 | - | 3q29 |
| LRCH4 | negative regulation of transcription, DNA-dependent; nervous system development | 7q22 |
| LRCOL1 | - | 12q24.33 |
| LRFN1 | - | 19q13.2 |
| LRFN2 | - | 6p21.2-p21.1 |
| LRFN3 | cell adhesion | 19q13.12 |
| LRFN4 | - | 11q13.2 |
| LRFN5 | - | 14q21.1 |
| LRG1 | brown fat cell differentiation | 19p13.3 |
| LRGUK | - | 7q33 |
| LRIF1 | regulation of transcription, DNA-dependent | 1p13.3 |
| LRIG1 | - | 3p14 |
| LRIG2 | - | 1p13.1 |
| LRIG3 | - | 12q14.1 |
| LRIT1 | - | 10q23 |
| LRIT2 | - | 10q23.1 |
| LRIT3 | - | 4q25 |
| LRMP | vesicle fusion; vesicle targeting | 12p12.1 |
| LRP1 | activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; negative regulation of platelet-derived growth factor receptor-beta signaling pathway; positive regulation of protein transport; positive regulation of anti-apoptosis; apoptotic cell clearance; lipoprotein transport; lipoprotein metabolic process; aorta morphogenesis; regulation of actin cytoskeleton organization; regulation of cholesterol transport; positive regulation of lipid transport; negative regulation of Wnt receptor signaling pathway; negative regulation of smooth muscle cell migration; positive regulation of cholesterol efflux; cell proliferation; aging; regulation of phospholipase A2 activity; receptor-mediated endocytosis; multicellular organismal development | 12q13.3 |
| LRP10 | lipid transport; endocytosis; lipid metabolic process | 14q11.2 |
| LRP11 | - | 6q25.1 |
| LRP12 | regulation of growth; endocytosis; signal transduction | 8q22.2 |
| LRP1B | receptor-mediated endocytosis; protein transport | 2q21.2 |
| LRP2 | cell proliferation; steroid metabolic process; receptor-mediated endocytosis; endocytosis; vitamin metabolic process; lipid metabolic process; protein glycosylation; vitamin D metabolic process; small molecule metabolic process; forebrain development | 2q31.1 |
| LRP2BP | - | 4q35.1 |
| LRP3 | receptor-mediated endocytosis | 19q13.11 |
| LRP4 | odontogenesis of dentin-containing tooth; negative regulation of canonical Wnt receptor signaling pathway; synaptic growth at neuromuscular junction; anatomical structure development; receptor clustering; embryonic digit morphogenesis; negative regulation of ossification; cell differentiation; proximal/distal pattern formation; dorsal/ventral pattern formation; protein localization; multicellular organismal development; endocytosis; hair follicle development; kidney development | 11p11.2 |
| LRP5 | endocytosis; glucose catabolic process; osteoblast development; positive regulation of mesenchymal cell proliferation; gastrulation with mouth forming second; negative regulation of protein serine/threonine kinase activity; regulation of blood pressure; positive regulation of transcription from RNA polymerase II promoter; multicellular organismal development; retinal blood vessel morphogenesis; positive regulation of cell proliferation; anterior/posterior pattern specification; Wnt receptor signaling pathway; embryonic limb morphogenesis; cholesterol homeostasis; Wnt receptor signaling pathway involved in dorsal/ventral axis specification; positive regulation of fat cell differentiation; negative regulation of osteoblast differentiation; positive regulation of mitosis; positive regulation of transcription, DNA-dependent; bone remodeling; bone marrow development; embryonic camera-type eye morphogenesis; retina morphogenesis in camera-type eye; embryonic retina morphogenesis in camera-type eye; canonical Wnt re | 11q13.4 |
| LRP5L | Wnt receptor signaling pathway involved in dorsal/ventral axis specification; canonical Wnt receptor signaling pathway | 22q11.23 |
| LRP6 | embryonic retina morphogenesis in camera-type eye; palate development; convergent extension; branching involved in mammary gland duct morphogenesis; canonical Wnt receptor signaling pathway; regulation of cell development; face morphogenesis; bone morphogenesis; positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification; response to folic acid; positive regulation of sequence-specific DNA binding transcription factor activity; negative regulation of epithelial cell proliferation; embryonic camera-type eye morphogenesis; bone remodeling; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of cell cycle; positive regulation of bone resorption; Wnt receptor signaling pathway involved in somitogenesis; midbrain-hindbrain boundary development; negative regulation of planar cell polarity pathway involved in neural tube closure; negative regulation of planar cell polarity pathway involv | 12p13.2 |
| LRP8 | proteolysis; endocytosis; lipid metabolic process; signal transduction; blood coagulation; cytokine-mediated signaling pathway; hippocampus development; layer formation in cerebral cortex; positive regulation of protein kinase activity | 1p34 |
| LRPAP1 | negative regulation of protein binding; vesicle-mediated transport; negative regulation of very-low-density lipoprotein particle clearance; negative regulation of signal transduction; protein folding | 4p16.3 |
| LRPPRC | regulation of transcription, DNA-dependent; transport; mitochondrion transport along microtubule; mRNA transport | 2p21 |
| LRR1 | - | 14q21.3 |
| LRRC1 | - | 6p12.1 |
| LRRC10 | - | 12q15 |
| LRRC10B | - | 11q12.2 |
| LRRC14 | - | 8q24.3 |
| LRRC15 | - | 3q29 |
| LRRC16A | actin filament organization; cell migration; blood coagulation; lamellipodium assembly; ruffle organization; urate metabolic process | 6p22.2 |
| LRRC16B | - | 14q11.2 |
| LRRC17 | bone marrow development; negative regulation of osteoclast differentiation; osteoblast proliferation; osteoblast differentiation | 7q22.1 |
| LRRC18 | - | 10q11.23 |
| LRRC19 | - | 9p21.2 |
| LRRC2 | - | 3p21.31 |
| LRRC2-AS1 | - | 3p21.3 |
| LRRC20 | - | 10q22.1 |
| LRRC23 | - | 12p13 |
| LRRC24 | - | 8q24.3 |
| LRRC25 | - | 19p13.11 |
| LRRC26 | ion transport | 9q34.3 |
| LRRC27 | - | 10q26.3 |
| LRRC28 | - | 15q26.3 |
| LRRC29 | - | 16q22.1 |
| LRRC3 | - | 21q22.3 |
| LRRC3-AS1 | - | 21q22.3 |
| LRRC30 | - | 18p11.23 |
| LRRC31 | - | 3q26.2 |
| LRRC32 | - | 11q13.5-q14 |
| LRRC34 | - | 3q26.2 |
| LRRC36 | - | 16q22.1 |
| LRRC37A11P | - | 17q12 |
| LRRC37A16P | - | 17q24.2 |
| LRRC37A2 | - | 17q21.31 |
| LRRC37A3 | - | 17q24.1 |
| LRRC37A4P | - | 17q21.31 |
| LRRC37A6P | - | 10p12.1 |
| LRRC37A7P | - | - |
| LRRC37A9P | - | - |
| LRRC37B | - | - |
| LRRC37BP1 | - | 17q11.2 |
| LRRC38 | - | 1p36.21 |
| LRRC39 | - | 1p21.2 |
| LRRC3B | - | 3p24 |
| LRRC4 | - | 7q31.3 |
| LRRC40 | - | 1p31.1 |
| LRRC41 | - | 1p34.1 |
| LRRC42 | - | 1p33-p32.1 |
| LRRC43 | - | 12q24.31 |
| LRRC45 | - | 17q25.3 |
| LRRC46 | - | 17q21.32 |
| LRRC47 | - | 1p36.32 |
| LRRC49 | - | 15q23 |
| LRRC4B | - | 19q13.33 |
| LRRC4C | regulation of axonogenesis | 11p12 |
| LRRC53 | ribosomal protein import into nucleus | 1p31.3 |
| LRRC55 | - | 11q12.1 |
| LRRC56 | - | 11p15.5 |
| LRRC57 | - | 15q15.2 |
| LRRC58 | - | 3q13.33 |
| LRRC59 | - | 17q21.33 |
| LRRC6 | diplotene; male gonad development; pachytene | 8q24.22 |
| LRRC61 | - | 7q31-q35 |
| LRRC63 | - | 13q14.13 |
| LRRC66 | - | 4q12 |
| LRRC69 | - | 8q21.3 |
| LRRC7 | - | 1p31.1 |
| LRRC70 | - | 5q12.1 |
| LRRC71 | - | 1q23.1 |
| LRRC73 | - | 6p21.1 |
| LRRC74B | - | 22q11.21 |
| LRRC75A | - | 17p11.2 |
| LRRC75B | - | 22q11.23 |
| LRRC8A | cell differentiation; pre-B cell differentiation | 9q34.11 |
| LRRC8B | - | 1p22.2 |
| LRRC8C | - | 1p22.2 |
| LRRC8D | - | 1p22.2 |
| LRRC8E | - | 19p13.2 |
| LRRC9 | - | 14q23.1 |
| LRRCC1 | mitosis; cell cycle; cell division | 8q21.2 |
| LRRD1 | signal transduction | 7q21.2 |
| LRRFIP1 | regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent | 2q37.3 |
| LRRFIP1P1 | - | 3q27 |
| LRRFIP2 | Wnt receptor signaling pathway | 3p22.2 |
| LRRIQ1 | - | 12q21.31 |
| LRRIQ3 | - | 1p31.1 |
| LRRIQ4 | - | 3q26.2 |
| LRRK1 | small GTPase mediated signal transduction | 15q26.3 |
| LRRK2 | negative regulation of branching morphogenesis of a nerve; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein phosphorylation; response to oxidative stress; small GTPase mediated signal transduction; negative regulation of neuroblast proliferation; neuromuscular junction development; determination of adult lifespan; positive regulation of autophagy; negative regulation of neuron maturation; peptidyl-serine phosphorylation; olfactory bulb development; tangential migration from the subventricular zone to the olfactory bulb; positive regulation of protein ubiquitination; positive regulation of cell death; regulation of kidney size; exploration behavior; regulation of locomotion; regulation of membrane potential; positive regulation of programmed cell death; positive regulation of GTPase activity; protein autophosphorylation; intracellular distribution of mitochondria; positive regulation of dopamine receptor signaling pathway; negative regulation of d | 12q12 |
| LRRN1 | - | 3p26.2 |
| LRRN2 | signal transduction; cell adhesion | 1q32.1 |
| LRRN3 | positive regulation of protein phosphorylation | 7q31.1 |
| LRRN4 | - | 20p12.3 |
| LRRN4CL | - | 11q12.3 |
| LRRTM1 | - | 2p12 |
| LRRTM2 | - | 5q31.2 |
| LRRTM3 | - | 10q21.3 |
| LRRTM4 | - | 2p12 |
| LRSAM1 | protein transport; protein catabolic process; protein polyubiquitination; negative regulation of endocytosis; non-lytic virus budding; protein autoubiquitination; ubiquitin-dependent endocytosis | 9q33.3 |
| LRTM2 | - | 12p13.33 |
| LRTOMT | auditory receptor cell development; sensory perception of sound; neurotransmitter catabolic process; catecholamine catabolic process | 11q13.4 |
| LRWD1 | chromatin modification; DNA replication; chromatin organization; DNA-dependent DNA replication initiation; G1 phase of mitotic cell cycle; establishment of protein localization to chromatin | 7q22.1 |
| LSAMP | cell adhesion; nervous system development | 3q13.2-q21 |
| LSG1 | protein transport; nuclear export | 3q29 |
| LSM1 | RNA metabolic process; mRNA metabolic process; histone mRNA catabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; mRNA processing; RNA splicing; gene expression; RNA splicing, via transesterification reactions | 8p11.2 |
| LSM10 | histone mRNA metabolic process; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; S phase of mitotic cell cycle; mRNA processing; RNA splicing; gene expression | 1p34.3 |
| LSM11 | S phase of mitotic cell cycle; histone mRNA metabolic process; transcription from RNA polymerase II promoter; gene expression; histone mRNA 3'-end processing; termination of RNA polymerase II transcription; mRNA processing | 5q33.3 |
| LSM12 | - | 17q21.31 |
| LSM12P1 | - | 8p12 |
| LSM14A | multicellular organismal development; regulation of translation; cytoplasmic mRNA processing body assembly | 19q13.11 |
| LSM14B | regulation of translation; multicellular organismal development | 20q13.33 |
| LSM2 | mRNA metabolic process; gene expression; RNA splicing; RNA metabolic process; nuclear mRNA splicing, via spliceosome; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 6p21.3 |
| LSM3 | RNA metabolic process; gene expression; nuclear mRNA splicing, via spliceosome; RNA splicing; mRNA processing; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 3p25.1 |
| LSM3P4 | - | 4q31.21 |
| LSM3P5 | - | 16q |
| LSM4 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA metabolic process; RNA metabolic process; gene expression; RNA splicing; mRNA processing; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 19p13.11 |
| LSM5 | mRNA processing; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; RNA splicing; gene expression; RNA metabolic process | 7p14.3 |
| LSM6 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; tRNA processing; mRNA processing; rRNA processing; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; RNA splicing; gene expression; mRNA metabolic process; RNA metabolic process | 4q31.22 |
| LSM7 | nuclear mRNA splicing, via spliceosome; RNA splicing | 19p13.3 |
| LSM8 | nuclear mRNA splicing, via spliceosome; RNA splicing | 7q31.1-q31.3 |
| LSMEM1 | - | 7q31.1 |
| LSMEM2 | - | 3p21.31 |
| LSP1 | cellular component movement; chemotaxis; cellular defense response | 11p15.5 |
| LSP1P2 | - | - |
| LSP1P3 | - | 5p13.3 |
| LSR | liver development; embryo development; regulation of lipid metabolic process | 19q13.12 |
| LSS | small molecule metabolic process; sterol metabolic process; steroid metabolic process; cholesterol biosynthetic process; steroid biosynthetic process | 21q22.3 |
| LST1 | anatomical structure morphogenesis; dendrite development; negative regulation of lymphocyte proliferation; regulation of cell shape; cell morphogenesis; immune response | 6p21.3 |
| LTA | defense response to Gram-positive bacterium; positive regulation of interferon-gamma production; lymph node development; negative regulation of fibroblast proliferation; negative regulation of growth of symbiont in host; response to drug; response to hypoxia; positive regulation of chronic inflammatory response to antigenic stimulus; positive regulation of humoral immune response mediated by circulating immunoglobulin; induction of apoptosis; immune response; humoral immune response; signal transduction; cell-cell signaling; response to nutrient; response to lipopolysaccharide | 6p21.3 |
| LTA4H | Type I pneumocyte differentiation; small molecule metabolic process; response to peptide hormone stimulus; peptide catabolic process; leukotriene biosynthetic process; response to zinc ion; inflammatory response; prostanoid metabolic process; proteolysis | 12q22 |
| LTB | cell-cell signaling; immune response; gene expression; skin development; positive regulation of interleukin-12 biosynthetic process; lymph node development; signal transduction | 6p21.3 |
| LTB4R | cellular component movement; muscle contraction; inflammatory response; immune response; G-protein coupled receptor signaling pathway; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger | 14q11.2-q12 |
| LTB4R2 | chemotaxis; signal transduction; G-protein coupled receptor signaling pathway; negative regulation of adenylate cyclase activity; keratinocyte migration | 14q11.2-q12 |
| LTBP1 | negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta | 2p22-p21 |
| LTBP2 | transforming growth factor beta receptor signaling pathway; protein secretion; protein targeting | 14q24 |
| LTBP3 | skeletal system development; transforming growth factor beta receptor signaling pathway; lung saccule development; bone morphogenesis; bone remodeling; positive regulation of bone resorption; negative regulation of chondrocyte differentiation; negative regulation of bone mineralization | 11q13.1 |
| LTBP4 | protein folding; multicellular organismal development; regulation of transforming growth factor beta receptor signaling pathway; regulation of proteolysis; growth hormone secretion; regulation of cell differentiation; regulation of cell growth; hormone secretion | 19q13.1-q13.2 |
| LTBR | interspecies interaction between organisms; apoptotic process; signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of JNK cascade; cellular response to mechanical stimulus; positive regulation of extrinsic apoptotic signaling pathway | 12p13 |
| LTC4S | cellular response to lipopolysaccharide; response to axon injury; small molecule metabolic process; leukotriene production involved in inflammatory response; leukotriene metabolic process; prostanoid metabolic process; response to inorganic substance; leukotriene biosynthetic process; response to drug; cellular response to vitamin A | 5q35 |
| LTF | proteolysis; ion transport; iron ion transport; cellular iron ion homeostasis; humoral immune response; metabolic process; defense response to bacterium | 3p21.31 |
| LTK | phosphatidylinositol 3-kinase cascade; cellular response to retinoic acid; positive regulation of neuron projection development; cell proliferation; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; apoptotic process; protein phosphorylation | 15q15.1-q21.1 |
| LTN1 | protein autoubiquitination | 21q22.11 |
| LTV1 | - | 6q24.2 |
| LUC7L | negative regulation of striated muscle tissue development | 16p13.3 |
| LUC7L2 | - | 7q34 |
| LUC7L3 | RNA splicing; mRNA processing; apoptotic process; response to stress | 17q21.33 |
| LUCAT1 | - | 5q14.3 |
| LUM | visual perception; response to organic cyclic compound; collagen fibril organization; cartilage development; response to growth factor stimulus | 12q21.3-q22 |
| LURAP1 | positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of cytokine production | 1p34 |
| LURAP1L | - | 9p23 |
| LUZP1 | - | 1p36 |
| LUZP2 | - | 11p14.3 |
| LUZP4 | - | Xq23 |
| LUZP6 | - | 7q33 |
| LVRN | - | 5q23.1 |
| LXN | detection of temperature stimulus involved in sensory perception of pain; negative regulation of endopeptidase activity | 3q25.32 |
| LY6D | lymphocyte differentiation; cell adhesion; response to stilbenoid | 8q24 |
| LY6E | in utero embryonic development; cell surface receptor signaling pathway; adrenal gland development; organ growth; norepinephrine metabolic process; epinephrine secretion; ventricular cardiac muscle tissue morphogenesis | 8q24.3 |
| LY6G5B | - | 6p21.3 |
| LY6G5C | - | 6p21.33 |
| LY6G6E | - | 6p21.3 |
| LY6G6F | - | 6p21 |
| LY6H | nervous system development; organ morphogenesis | 8q24.3 |
| LY6K | - | 8q24.3 |
| LY75 | endocytosis; inflammatory response; immune response | 2q24 |
| LY86 | apoptotic process; inflammatory response; humoral immune response; cell proliferation; innate immune response | 6p25.1 |
| LY86-AS1 | - | 6p25.1 |
| LY9 | cell adhesion; immunoglobulin mediated immune response | 1q23.3 |
| LY96 | lipopolysaccharide-mediated signaling pathway; innate immune response; toll-like receptor 4 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; detection of lipopolysaccharide; response to lipopolysaccharide; Toll signaling pathway; I-kappaB kinase/NF-kappaB cascade; cell surface receptor signaling pathway; cellular defense response; inflammatory response; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway | 8q21.11 |
| LYAR | - | 4p16.3 |
| LYG1 | metabolic process; peptidoglycan catabolic process; cell wall macromolecule catabolic process | 2q11.2 |
| LYG2 | peptidoglycan catabolic process; cell wall macromolecule catabolic process; metabolic process | 2q11.2 |
| LYL1 | blood vessel maturation; regulation of transcription, DNA-dependent; B cell differentiation; positive regulation of transcription, DNA-dependent; definitive hemopoiesis | 19p13.2 |
| LYN | response to hormone stimulus; signal transduction by phosphorylation; peptidyl-tyrosine phosphorylation; response to organic cyclic compound; oligodendrocyte development; positive regulation of neuron projection development; negative regulation of intracellular protein kinase cascade; response to carbohydrate stimulus; lipopolysaccharide-mediated signaling pathway; regulation of apoptotic process; response to toxin; platelet activation; erythrocyte differentiation; T cell costimulation; cellular response to extracellular stimulus; response to insulin stimulus; regulation of mast cell activation; regulation of cell adhesion mediated by integrin; negative regulation of toll-like receptor 2 signaling pathway; negative regulation of toll-like receptor 4 signaling pathway; cellular response to heat; leukocyte migration; regulation of platelet aggregation; dendritic cell differentiation; regulation of monocyte chemotaxis; cellular response to retinoic acid; positive regulation of mast cell proliferation; negative r | 8q13 |
| LYNX1 | - | 8q24.3 |
| LYPD1 | - | 2q21.2 |
| LYPD2 | - | 8q24.3 |
| LYPD3 | - | 19q13.31 |
| LYPD4 | - | 19q13.2 |
| LYPD5 | - | 19q13.31 |
| LYPD6 | - | 2q23.2 |
| LYPD6B | - | 2q23.2 |
| LYPD8 | - | 1q44 |
| LYPLA1 | lipid metabolic process; fatty acid metabolic process; small molecule metabolic process; nitric oxide metabolic process; regulation of nitric-oxide synthase activity | 8q11.23 |
| LYPLA1P1 | - | 7q31.32 |
| LYPLA1P2 | - | 4q25 |
| LYPLA2 | lipid metabolic process; fatty acid metabolic process | 1p36.11 |
| LYPLA2P1 | - | 6p21.32 |
| LYPLA2P2 | - | 19p13.2 |
| LYPLAL1 | - | 1q41 |
| LYPLAL1-AS1 | - | 1q41 |
| LYRM1 | - | 16p11.2 |
| LYRM2 | - | 6q15 |
| LYRM4 | - | 6p25.1 |
| LYRM5 | - | 12p12.1 |
| LYRM7 | - | 5q23.3 |
| LYRM9 | - | 17q11.2 |
| LYSMD1 | cell wall macromolecule catabolic process | 1q21.3 |
| LYSMD2 | cell wall macromolecule catabolic process | 15q21.2 |
| LYSMD3 | cell wall macromolecule catabolic process | 5q14.3 |
| LYSMD4 | cell wall macromolecule catabolic process | 15q26.3 |
| LYST | endosome to lysosome transport via multivesicular body sorting pathway; defense response to bacterium; defense response to protozoan; pigmentation; defense response to virus; mast cell secretory granule organization; melanosome organization; natural killer cell mediated cytotoxicity; leukocyte chemotaxis; protein transport | 1q42.1-q42.2 |
| LYST-AS1 | - | - |
| LYVE1 | cell adhesion; glycosaminoglycan catabolic process; transport; cellular component movement; cell-matrix adhesion; signal transduction; response to wounding; anatomical structure morphogenesis | 11p15 |
| LYZ | inflammatory response; cell wall macromolecule catabolic process; cytolysis; defense response to bacterium | 12q15 |
| LYZL4 | cell wall macromolecule catabolic process | 3p22.1 |
| LYZL6 | metabolic process; cell wall macromolecule catabolic process | 17q11.2 |
| LZIC | response to ionizing radiation | 1p36.22 |
| LZTFL1 | - | 3p21.3 |
| LZTR1 | regulation of transcription, DNA-dependent; anatomical structure morphogenesis | 22q11.21|22q11.1-q11.2 |
| LZTS1 | cell cycle; regulation of transcription, DNA-dependent; transcription, DNA-dependent; transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription; regulation of dendrite morphogenesis; gene expression | 8p22 |
| LZTS1-AS1 | - | - |
| LZTS2 | mitosis; cell cycle; positive regulation of cell death; Wnt receptor signaling pathway; cell division | 10q24 |
| LZTS3 | - | 20p13 |
| M1AP | - | 2p13.1 |
| M6PR | endosome to lysosome transport; receptor-mediated endocytosis; transport | 12p13 |
| MAATS1 | - | 3q12-q13.3 |
| MAB21L2 | camera-type eye development; positive regulation of cell proliferation; embryonic body morphogenesis; nervous system development; multicellular organismal development | 4q31 |
| MAB21L3 | - | 1p13.1 |
| MACC1 | regulation of transcription, DNA-dependent; positive regulation of cell division | 7p21.1 |
| MACC1-AS1 | - | - |
| MACF1 | posttranslational protein targeting to membrane; ATP catabolic process; mesoderm formation; regulation of focal adhesion assembly; Golgi to plasma membrane protein transport; wound healing; regulation of microtubule-based process; positive regulation of Wnt receptor signaling pathway; cellular component movement; cell cycle arrest; establishment or maintenance of cell polarity; regulation of epithelial cell migration | 1p32-p31 |
| MACROD1 | purine nucleoside metabolic process | 11q11 |
| MACROD2 | purine nucleoside metabolic process | 20p12.1 |
| MACROD2-AS1 | - | 20p12.1 |
| MACROD2-IT1 | - | - |
| MAD1L1 | mitotic cell cycle checkpoint; cell cycle checkpoint; M phase of mitotic cell cycle; mitotic metaphase; mitotic anaphase; mitotic telophase; mitotic prometaphase; mitotic cell cycle; mitotic cell cycle spindle assembly checkpoint; cell division | 7p22 |
| MAD2L1 | positive regulation of mitotic cell cycle spindle assembly checkpoint; negative regulation of mitotic anaphase-promoting complex activity; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; negative regulation of apoptotic process; negative regulation of protein catabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mitotic cell cycle spindle assembly checkpoint; mitotic cell cycle checkpoint; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; cell cycle checkpoint; mitotic sister chromatid segregation | 4q27 |
| MAD2L1BP | regulation of exit from mitosis; mitotic cell cycle checkpoint | 6p21.1 |
| MAD2L2 | mitotic cell cycle spindle assembly checkpoint; DNA repair; double-strand break repair; regulation of cell growth; cell cycle; positive regulation of peptidyl-serine phosphorylation; negative regulation of protein catabolic process; DNA damage response, signal transduction resulting in transcription; positive regulation of transcription, DNA-dependent; cell division; negative regulation of mitotic anaphase-promoting complex activity; mitosis | 1p36 |
| MADD | regulation of apoptotic process; regulation of cell cycle; cell surface receptor signaling pathway; positive regulation of protein phosphorylation; activation of MAPK activity | 11p11.2 |
| MAEA | cytoskeleton organization; cell cycle; cell adhesion; regulation of mitotic cell cycle; negative regulation of myeloid cell apoptosis; erythrocyte maturation; enucleate erythrocyte development; cell division | 4p16.3 |
| MAEL | multicellular organismal development; synapsis; cell differentiation; negative regulation of gene expression; fertilization; spermatogenesis; male meiosis; negative regulation of apoptotic process; DNA methylation involved in gamete generation; piRNA metabolic process; gene silencing by RNA; cell morphogenesis; response to DNA damage stimulus; negative regulation of transcription from RNA polymerase II promoter; regulation of organ growth; meiotic prophase I | 1q24.1 |
| MAF | transcription from RNA polymerase II promoter | 16q22-q23 |
| MAF1 | negative regulation of transcription from RNA polymerase III promoter; regulation of transcription, DNA-dependent | 8q24.3 |
| MAFB | inner ear morphogenesis; negative regulation of erythrocyte differentiation; rhombomere 6 development; positive regulation of transcription from RNA polymerase II promoter; brain segmentation; segment specification; sensory organ development; respiratory gaseous exchange; rhombomere 5 development | 20q11.2-q13.1 |
| MAFF | response to stress; regulation of epidermal cell differentiation; blood coagulation; parturition; transcription from RNA polymerase II promoter; in utero embryonic development | 22q13.1 |
| MAFG | in utero embryonic development; regulation of transcription, DNA-dependent; blood coagulation; adult behavior; regulation of cellular pH; regulation of cell proliferation; regulation of epidermal cell differentiation | 17q25.3 |
| MAFG-AS1 | - | 17q25.3 |
| MAFIP | regulation of transcription, DNA-dependent; microtubule cytoskeleton organization | - |
| MAFK | regulation of transcription, DNA-dependent; blood coagulation | 7p22.3 |
| MAG | regulation of axonogenesis; negative regulation of axonogenesis; leukocyte migration; nerve growth factor receptor signaling pathway; cell adhesion; blood coagulation | 19q13.1 |
| MAGEA1 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of Notch signaling pathway | Xq28 |
| MAGEA10 | - | Xq28 |
| MAGEA11 | - | Xq28 |
| MAGEA12 | - | Xq28 |
| MAGEA2B | - | Xq28 |
| MAGEA4 | - | Xq28 |
| MAGEA5 | - | Xq28 |
| MAGEA6 | - | Xq28 |
| MAGEA8 | - | Xq28 |
| MAGEA9 | - | Xq28 |
| MAGEA9B | - | Xq28 |
| MAGEB1 | - | Xp21.3 |
| MAGEB10 | - | Xp21.3 |
| MAGEB17 | - | Xp22.2 |
| MAGEB18 | - | Xp21.3 |
| MAGEB2 | - | Xp21.3 |
| MAGEB3 | - | Xp21.3 |
| MAGEB6 | - | Xp21.3 |
| MAGEB6P1 | - | Xp21.3 |
| MAGEC1 | - | Xq26 |
| MAGEC2 | - | Xq27 |
| MAGEC3 | - | Xq27.2 |
| MAGED1 | regulation of transcription, DNA-dependent; apoptotic process; induction of apoptosis by extracellular signals; regulation of apoptotic process; nerve growth factor receptor signaling pathway; negative regulation of epithelial cell proliferation | Xp11.23 |
| MAGED2 | - | Xp11.2 |
| MAGED4 | - | Xp11.22 |
| MAGEE1 | - | Xq13.3 |
| MAGEF1 | - | 3q13 |
| MAGEH1 | apoptotic process | Xp11.21 |
| MAGEL2 | - | 15q11-q12 |
| MAGI1 | protein complex assembly; cell adhesion; cell surface receptor signaling pathway | 3p14.1 |
| MAGI1-AS1 | - | - |
| MAGI1-IT1 | - | 3p14.3 |
| MAGI2 | mitotic cell cycle arrest; positive regulation of receptor internalization; glomerular visceral epithelial cell development; SMAD protein signal transduction; negative regulation of protein kinase B signaling cascade; protein heterooligomerization; receptor clustering; negative regulation of activin receptor signaling pathway; planar cell polarity pathway involved in axis elongation; negative regulation of cell proliferation; negative regulation of cell migration; positive regulation of phosphoprotein phosphatase activity | 7q21 |
| MAGI2-AS1 | - | - |
| MAGI2-AS3 | - | - |
| MAGI2-IT1 | - | 7q21.11 |
| MAGI3 | apoptotic process; intracellular signal transduction; interspecies interaction between organisms | 1p12-p11.2 |
| MAGIX | - | Xp11.23 |
| MAGOH | termination of RNA polymerase II transcription; gene expression; mRNA export from nucleus; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; regulation of translation; transport; RNA splicing; RNA metabolic process; mRNA metabolic process; mRNA 3'-end processing | 1p32.3 |
| MAGOH2P | - | - |
| MAGOH3P | - | 14q24.1 |
| MAGOHB | RNA splicing; mRNA processing; transport; mRNA transport | 12p13.2 |
| MAGT1 | protein N-linked glycosylation; cognition; magnesium ion transport; transport | Xq21.1 |
| MAK | cell differentiation; photoreceptor cell maintenance; protein autophosphorylation; protein phosphorylation; multicellular organismal development; spermatogenesis | 6p24 |
| MAK16 | translation | 8p12 |
| MAL | membrane raft polarization; apical protein localization; myelination; cell differentiation; central nervous system development; induction of apoptosis | 2q11.1 |
| MAL2 | - | 8q23 |
| MALAT1 | - | 11q13.1 |
| MALL | cholesterol homeostasis | 2q13 |
| MALSU1 | ribosomal large subunit biogenesis | 7p15.3 |
| MALT1 | T cell receptor signaling pathway; positive regulation of T cell cytokine production; positive regulation of T cell activation; positive regulation of NF-kappaB transcription factor activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; positive regulation of phosphorylation; positive regulation of interleukin-2 production; positive regulation of protein ubiquitination; protein ubiquitination; protein oligomerization; proteolysis; anti-apoptosis; defense response; activation of NF-kappaB-inducing kinase activity; nuclear export | 18q21 |
| MAMDC2 | - | 9q21.12 |
| MAMDC2-AS1 | - | - |
| MAMDC4 | protein transport | 9q34.3 |
| MAML1 | regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of muscle cell differentiation; protein phosphorylation; gene expression; positive regulation of myotube differentiation; myoblast differentiation; Notch signaling pathway | 5q35 |
| MAML2 | positive regulation of transcription from RNA polymerase II promoter; gene expression; Notch signaling pathway; regulation of transcription, DNA-dependent | 11q21 |
| MAML3 | regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; Notch signaling pathway; gene expression | 4q28 |
| MAMLD1 | regulation of transcription, DNA-dependent; male gonad development | Xq28 |
| MAMSTR | positive regulation of myotube differentiation; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 19q13.33 |
| MAN1A1 | metabolic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 6q22 |
| MAN1A2 | post-translational protein modification; cellular protein metabolic process; lung alveolus development; metabolic process; glycoprotein metabolic process; protein N-linked glycosylation via asparagine; N-glycan processing; respiratory gaseous exchange | 1p13 |
| MAN1B1 | protein folding; post-translational protein modification; protein N-linked glycosylation; metabolic process; protein N-linked glycosylation via asparagine; ER-associated protein catabolic process; oligosaccharide metabolic process; cellular protein metabolic process | 9q34 |
| MAN1B1-AS1 | - | 9q34.3 |
| MAN1C1 | metabolic process; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation; protein N-linked glycosylation via asparagine | 1p35 |
| MAN2A1 | lung alveolus development; mitochondrion organization; cellular protein metabolic process; in utero embryonic development; liver development; carbohydrate metabolic process; mannose metabolic process; N-glycan processing; post-translational protein modification; protein N-linked glycosylation via asparagine; respiratory gaseous exchange; vacuole organization | 5q21-q22 |
| MAN2A2 | post-translational protein modification; carbohydrate metabolic process; mannose metabolic process; protein N-linked glycosylation via asparagine; cellular protein metabolic process | 15q26.1 |
| MAN2B1 | carbohydrate metabolic process; protein deglycosylation; protein modification process; learning or memory; mannose metabolic process | 19cen-q13.1 |
| MAN2B2 | carbohydrate metabolic process; mannose metabolic process | 4p16.1 |
| MAN2C1 | mannose metabolic process; carbohydrate metabolic process | 15q11-q13 |
| MANBA | protein modification process; carbohydrate metabolic process | 4q22-q25 |
| MANBAL | - | 20q11.23-q12 |
| MANEA | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine | 6q16.1 |
| MANEAL | - | 1p34.3 |
| MANF | response to unfolded protein | 3p21.1 |
| MANSC1 | - | 12p13.2 |
| MAOA | cellular biogenic amine metabolic process; small molecule metabolic process; phenylethylamine metabolic process; serotonin metabolic process; dopamine catabolic process; neurotransmitter biosynthetic process; behavior; neurotransmitter secretion; synaptic transmission; xenobiotic metabolic process; catecholamine metabolic process; neurotransmitter catabolic process | Xp11.3 |
| MAOB | response to selenium ion; response to corticosterone stimulus; response to steroid hormone stimulus; positive regulation of dopamine metabolic process; response to ethanol; small molecule metabolic process; response to drug; response to lipopolysaccharide; negative regulation of serotonin secretion; response to aluminum ion; response to toxin; xenobiotic metabolic process | Xp11.23 |
| MAP10 | - | 1q42.2 |
| MAP1A | - | 15q15.3 |
| MAP1B | positive regulation of axon extension; mitochondrion transport along microtubule; positive regulation of neuron differentiation; response to carbohydrate stimulus; response to mechanical stimulus; central nervous system development; synapse assembly; axonogenesis; negative regulation of microtubule depolymerization; microtubule bundle formation; neuron development; axon extension involved in development; response to axon injury; induction of synaptic plasticity by chemical substance; establishment of monopolar cell polarity; cellular process; response to insecticide; embryo development; response to peptide hormone stimulus; response to drug; response to vitamin A; negative regulation of intracellular transport; response to estradiol stimulus; response to nutrient levels; positive regulation of microtubule polymerization; developmental maturation; response to inorganic substance; dendrite development; peripheral nervous system axon regeneration | 5q13 |
| MAP1LC3A | autophagic vacuole assembly; autophagy | 20q11.22 |
| MAP1LC3B | autophagy | 16q24.2 |
| MAP1LC3B2 | autophagy | 12q24.22 |
| MAP1LC3C | autophagy | 1q43 |
| MAP1S | mitochondrion transport along microtubule; nervous system development; brain development; neuron projection morphogenesis; apoptotic process; microtubule bundle formation | 19p13.11 |
| MAP2 | microtubule bundle formation; negative regulation of microtubule depolymerization; axonogenesis; central nervous system neuron development; peptidyl-threonine phosphorylation; neuron projection development; dendrite morphogenesis | 2q34-q35 |
| MAP2K1 | negative regulation of cell proliferation; cell cycle arrest; mitosis; signal transduction; epidermal growth factor receptor signaling pathway; small GTPase mediated signal transduction; Ras protein signal transduction; axon guidance; Toll signaling pathway; regulation of vascular smooth muscle contraction; insulin receptor signaling pathway; response to oxidative stress; chemotaxis; cellular component movement; neuron differentiation; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; activation of MAPK activity; activation of MAPKK activity; MAPK cascade; placenta blood vessel development; TRIF-dependent toll-like receptor signaling pathway; cellular senescence; regulation of Golgi inheritance; labyrinthine layer development; stress-activated MAPK cascade; response to glucocorticoid stimulus; cell motility; neuron projection morphogenesis; response to axon injury; nerve growth factor receptor signaling pathway; | 15q22.1-q22.33 |
| MAP2K1P1 | - | 8p12 |
| MAP2K2 | toll-like receptor 1 signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; protein phosphorylation; epidermal growth factor receptor signaling pathway; small GTPase mediated signal transduction; Ras protein signal transduction; axon guidance; regulation of early endosome to late endosome transport; positive regulation of cell motility; regulation of Golgi inheritance; ERK1 and ERK2 cascade; stress-activated MAPK cascade; nerve growth factor receptor signaling pathway; activation of MAPK activity; toll-like receptor signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; Toll signaling pathway; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; regulation of stress-activated MAPK cascade; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; innate immune response; MAPK cascade; activation of MAPKK activity | 19p13.3 |
| MAP2K3 | cardiac muscle contraction; stress-activated MAPK cascade; positive regulation of transcription, DNA-dependent; positive regulation of protein kinase activity; toll-like receptor 4 signaling pathway; innate immune response; regulation of cytokine biosynthetic process; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; Toll signaling pathway; signal transduction; inflammatory response; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; activation of MAPK activity | 17q11.2 |
| MAP2K4 | apoptotic process; cellular response to mechanical stimulus; stress-activated MAPK cascade; innate immune response; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; Toll signaling pathway; JNK cascade; signal transduction; response to stress; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; protein phosphorylation | 17p12 |
| MAP2K5 | negative regulation of transcription from RNA polymerase II promoter; activation of MAPK activity; protein phosphorylation; signal transduction; heart development; negative regulation of chemokine (C-X-C motif) ligand 2 production; negative regulation of cell migration involved in sprouting angiogenesis; cellular response to laminar fluid shear stress; cellular response to growth factor stimulus; ERK5 cascade; negative regulation of response to cytokine stimulus; positive regulation of protein metabolic process; positive regulation of epithelial cell proliferation; nerve growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; negative regulation of interleukin-8 biosynthetic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; negative regulation of heterotypic cell-cell adhesion; negative regulation of NF-kappaB transcription factor activity; positive regulation of | 15q23 |
| MAP2K6 | nucleotide-binding oligomerization domain containing signaling pathway; activation of MAPK activity; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; regulation of transcription, DNA-dependent; cardiac muscle contraction; stress-activated MAPK cascade; positive regulation of muscle cell differentiation; innate immune response; positive regulation of apoptotic process; muscle cell differentiation; response to drug; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; Toll signaling pathway; signal transduction; cell cycle arrest; DNA damage induced protein phosphorylation; response to stress; MyD88-independent toll-like receptor signaling pathway | 17q24.3 |
| MAP2K7 | TRIF-dependent toll-like receptor signaling pathway; positive regulation of neuron apoptosis; innate immune response; stress-activated MAPK cascade; JNK cascade; toll-like receptor 3 signaling pathway; activation of MAPK activity; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; apoptotic process; response to stress; signal transduction; activation of JUN kinase activity; Toll signaling pathway; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 4 signaling pathway | 19p13.3-p13.2 |
| MAP3K1 | protein autophosphorylation; MAPK cascade; cellular response to mechanical stimulus; protein oligomerization; toll-like receptor 4 signaling pathway; positive regulation of viral transcription; wound healing; innate immune response; positive regulation of apoptotic process; camera-type eye development; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; negative regulation of actin filament bundle assembly; protein polyubiquitination; positive regulation of actin filament polymerization; regulation of cell migration; peptidyl-serine phosphorylation; apoptotic mitochondrial changes; Toll signaling pathway; transforming growth factor beta receptor signaling pathway; response to osmotic stress; activation of MAPKK activity; protein phosphorylation; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway | 5q11.2 |
| MAP3K10 | negative regulation of transcription, DNA-dependent; positive regulation of JUN kinase activity; negative regulation of sequence-specific DNA binding transcription factor activity; peptidyl-threonine phosphorylation; peptidyl-serine phosphorylation; activation of JUN kinase activity; activation of JNKK activity; JNK cascade; smoothened signaling pathway; signal transduction; protein autophosphorylation; protein phosphorylation; induction of apoptosis; positive regulation of JNK cascade | 19q13.2 |
| MAP3K11 | cell death; protein autophosphorylation; positive regulation of JNK cascade; positive regulation of neuron apoptosis; positive regulation of JUN kinase activity; cell proliferation; activation of JUN kinase activity; activation of JNKK activity; JNK cascade; microtubule-based process; protein phosphorylation; activation of MAPK activity; G1 phase of mitotic cell cycle | 11q13.1-q13.3 |
| MAP3K12 | peptidyl-serine phosphorylation; protein phosphorylation; intracellular protein kinase cascade; JNK cascade; histone phosphorylation; peptidyl-threonine phosphorylation; protein autophosphorylation | 12q13 |
| MAP3K13 | JNK cascade; activation of MAPKK activity; positive regulation of NF-kappaB transcription factor activity; protein autophosphorylation; protein phosphorylation | 3q27 |
| MAP3K14 | immune response; cellular response to mechanical stimulus; positive regulation of I-kappaB kinase/NF-kappaB cascade; NIK/NF-kappaB cascade; T cell costimulation; I-kappaB kinase/NF-kappaB cascade; protein phosphorylation | 17q21 |
| MAP3K14-AS1 | - | 17q21.31 |
| MAP3K15 | - | Xp22.12 |
| MAP3K19 | - | 2q21.3 |
| MAP3K2 | cellular response to mechanical stimulus; positive regulation of transcription, DNA-dependent; activation of JUN kinase activity; activation of MAPK activity; protein phosphorylation | 2q14.3 |
| MAP3K3 | MAPK cascade; activation of MAPKK activity; intracellular protein kinase cascade; positive regulation of I-kappaB kinase/NF-kappaB cascade; protein autophosphorylation | 17q23.3 |
| MAP3K4 | activation of MAPKK activity; protein phosphorylation; positive regulation of JUN kinase activity; male germ-line sex determination; JNK cascade; intracellular protein kinase cascade; response to stress | 6q26 |
| MAP3K5 | activation of MAPKK activity; activation of cysteine-type endopeptidase activity involved in apoptotic process; MAPK cascade; response to stress; JNK cascade; activation of JUN kinase activity; induction of apoptosis by extracellular signals; induction of apoptosis by oxidative stress; hydrogen peroxide-mediated programmed cell death; positive regulation of apoptotic process; cellular response to hydrogen peroxide; innate immune response; interspecies interaction between organisms; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 6q22.33 |
| MAP3K6 | activation of MAPKK activity; MAPK cascade; protein phosphorylation; signal transduction; activation of JUN kinase activity | 1p36.11 |
| MAP3K7 | activation of NF-kappaB-inducing kinase activity; neural tube formation; I-kappaB kinase/NF-kappaB cascade; transforming growth factor beta receptor signaling pathway; signal transduction; response to stress; regulation of transcription, DNA-dependent; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; positive regulation of T cell cytokine production; toll-like receptor signaling pathway; positive regulation of JUN kinase activity; I-kappaB phosphorylation; JNK cascade; Toll signaling pathway; positive regulation of interleukin-2 production; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; negative regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; histone H3 acetyl | 6q15 |
| MAP3K7CL | - | 21q22.3 |
| MAP3K8 | signal transduction; protein phosphorylation; cell cycle; T cell costimulation | 10p11.23 |
| MAP3K9 | protein phosphorylation; protein autophosphorylation; activation of JUN kinase activity; activation of JNKK activity; response to stress; MAPK cascade; activation of MAPK activity; regulation of transcription, DNA-dependent; apoptotic process | 14q24.2 |
| MAP4 | negative regulation of microtubule depolymerization | 3p21 |
| MAP4K1 | peptidyl-serine phosphorylation; activation of JUN kinase activity; intracellular protein kinase cascade; response to stress; protein phosphorylation; activation of MAPKKK activity; MAPK cascade | 19q13.1-q13.4 |
| MAP4K2 | JNK cascade; protein phosphorylation; vesicle targeting; response to stress; immune response; intracellular protein kinase cascade; activation of JUN kinase activity; innate immune response; positive regulation of JNK cascade | 11q13 |
| MAP4K3 | JNK cascade; intracellular protein kinase cascade; response to stress; protein phosphorylation | 2p22.1 |
| MAP4K4 | regulation of JNK cascade; intracellular protein kinase cascade; response to stress; protein phosphorylation | 2q11.2-q12 |
| MAP4K5 | activation of JUN kinase activity; protein phosphorylation; intracellular protein kinase cascade; response to stress | 14q11.2-q21 |
| MAP6 | - | 11q13.5 |
| MAP6D1 | negative regulation of microtubule depolymerization; N-terminal peptidyl-L-cysteine N-palmitoylation | 3q27.1 |
| MAP7 | protein localization in plasma membrane; establishment or maintenance of cell polarity; response to osmotic stress; microtubule cytoskeleton organization | 6q23.3 |
| MAP7D1 | - | 1p34.3 |
| MAP7D2 | - | Xp22.12 |
| MAP7D3 | - | Xq26.3 |
| MAP9 | cell cycle; cell division; mitosis | 4q32.1 |
| MAPK1 | stress-activated MAPK cascade; regulation of cytoskeleton organization; JAK-STAT cascade involved in growth hormone signaling pathway; labyrinthine layer blood vessel development; ERK1 and ERK2 cascade; caveolin-mediated endocytosis; regulation of Golgi inheritance; regulation of early endosome to late endosome transport; lipopolysaccharide-mediated signaling pathway; cell cycle; response to toxin; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; positive regulation of cell proliferation; Toll signaling pathway; blood coagulation; axon guidance; synaptic transmission; Ras protein signal transduction; small GTPase mediated signal transduction; epidermal growth factor receptor signaling pathway; signal transduction; B cell receptor signaling pathway; response to DNA damage stimulus; response to stress; chemotaxis; induction of apoptosis; apoptotic process; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-li | 22q11.21 |
| MAPK10 | toll-like receptor 2 signaling pathway; activation of MAPK activity; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; signal transduction; JNK cascade; JUN phosphorylation; Toll signaling pathway; toll-like receptor 1 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; innate immune response; regulation of sequence-specific DNA binding transcription factor activity; stress-activated MAPK cascade | 4q22.1-q23 |
| MAPK11 | mRNA metabolic process; positive regulation of muscle cell differentiation; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; muscle cell differentiation; innate immune response; nerve growth factor receptor signaling pathway; regulation of sequence-specific DNA binding transcription factor activity; MyD88-independent toll-like receptor signaling pathway; RNA metabolic process; gene expression; Toll signaling pathway; Ras protein signal transduction; intracellular protein kinase cascade; signal transduction; response to stress; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; activation of MAPK activity; MAPK cascade; stress-activated MAPK cascade | 22q13.33 |
| MAPK12 | Ras protein signal transduction; DNA damage induced protein phosphorylation; myoblast differentiation; muscle cell differentiation; peptidyl-serine phosphorylation; cell cycle arrest; signal transduction; muscle organ development; response to stress; nerve growth factor receptor signaling pathway; positive regulation of muscle cell differentiation; regulation of transcription, DNA-dependent; MAPK cascade | 22q13.33 |
| MAPK13 | MAPK cascade; regulation of transcription, DNA-dependent; response to stress; positive regulation of inflammatory response; nerve growth factor receptor signaling pathway; positive regulation of interleukin-6 production; peptidyl-serine phosphorylation; response to osmotic stress; cell cycle; intracellular protein kinase cascade; Ras protein signal transduction | 6p21.31 |
| MAPK14 | TRIF-dependent toll-like receptor signaling pathway; muscle cell differentiation; toll-like receptor 4 signaling pathway; signal transduction in response to DNA damage; innate immune response; vascular endothelial growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; regulation of sequence-specific DNA binding transcription factor activity; positive regulation of muscle cell differentiation; stress-activated MAPK cascade; 3'-UTR-mediated mRNA stabilization; cellular response to growth factor stimulus; cellular response to ionizing radiation; stress-induced premature senescence; positive regulation of reactive oxygen species metabolic process; cell surface receptor signaling pathway; toll-like receptor 2 signaling pathway; MAPK cascade; activation of MAPK activity; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; apoptotic process; cellular component movement; chemotaxis; respo | 6p21.3-p21.2 |
| MAPK15 | MAPK cascade; positive regulation of protein phosphorylation; negative regulation of DNA replication; positive regulation of protein ubiquitination; response to estradiol stimulus; positive regulation of protein catabolic process; protein autophosphorylation | - |
| MAPK1IP1L | - | 14q22.3 |
| MAPK3 | innate immune response; platelet activation; interspecies interaction between organisms; TRIF-dependent toll-like receptor signaling pathway; positive regulation of histone acetylation; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; positive regulation of histone phosphorylation; regulation of stress-activated MAPK cascade; response to lipopolysaccharide; lipopolysaccharide-mediated signaling pathway; fibroblast growth factor receptor signaling pathway; positive regulation of translation; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; regulation of sequence-specific DNA binding transcription factor activity; cartilage development; stress-activated MAPK cascade; regulation of cytoskeleton organization; JAK-STAT cascade involved in growth hormone signaling pathway; interleukin-1-mediated signaling pathway; cellular response to mec | 16p11.2 |
| MAPK4 | cell cycle; protein phosphorylation; MAPK cascade | 18q21.1 |
| MAPK6 | signal transduction; cell cycle; protein phosphorylation; MAPK cascade | 15q21 |
| MAPK6PS2 | - | 21q21.1 |
| MAPK6PS3 | - | 13q14.13 |
| MAPK6PS4 | - | 8q11.1 |
| MAPK6PS6 | - | 10q11.23 |
| MAPK7 | positive regulation of protein metabolic process; nerve growth factor receptor signaling pathway; negative regulation of inflammatory response; positive regulation of transcription from RNA polymerase II promoter; stress-activated MAPK cascade; negative regulation of NFAT protein import into nucleus; negative regulation of response to cytokine stimulus; ERK5 cascade; cellular response to growth factor stimulus; cellular response to laminar fluid shear stress; cellular response to transforming growth factor beta stimulus; protein autophosphorylation; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; regulation of angiogenesis; innate immune response; negative regulation of apoptotic process; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; negative regulation of heterotypic cell-cell adhesion; cell different | 17p11.2 |
| MAPK8 | induction of apoptosis in response to chemical stimulus; negative regulation of protein binding; regulation of protein localization; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; negative regulation of apoptotic process; innate immune response; response to cadmium ion; nerve growth factor receptor signaling pathway; regulation of sequence-specific DNA binding transcription factor activity; stress-activated MAPK cascade; cellular response to mechanical stimulus; positive regulation of deacetylase activity; positive regulation of determination of dorsal identity; toll-like receptor 4 signaling pathway; peptidyl-threonine phosphorylation; regulation of histone deacetylation; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; apoptotic process; response to stress; JNK cascade; JUN phosphorylat | 10q11.22 |
| MAPK8IP1 | anti-apoptosis; negative regulation of JNK cascade; regulation of JNK cascade; negative regulation of JUN kinase activity; vesicle-mediated transport; JUN phosphorylation; signal transduction; regulation of transcription, DNA-dependent | 11p11.2 |
| MAPK8IP2 | dendrite morphogenesis; positive regulation of protein phosphorylation; behavioral fear response; MAPK cascade; signal complex assembly; mating behavior; regulation of receptor activity; positive regulation of stress-activated MAPK cascade; social behavior; positive regulation of anti-apoptosis; regulation of JNK cascade; regulation of synaptic transmission, glutamatergic; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; regulation of N-methyl-D-aspartate selective glutamate receptor activity; regulation of excitatory postsynaptic membrane potential; nonassociative learning | 22q13.33 |
| MAPK8IP3 | lung morphogenesis; in utero embryonic development; lung alveolus development; regulation of JNK cascade; forebrain development; vesicle-mediated transport; regulation of gene expression; protein localization; respiratory gaseous exchange; post-embryonic development; axon guidance; activation of JUN kinase activity | 16p13.3 |
| MAPK8IPP | - | 17q21.31 |
| MAPK9 | induction of apoptosis in response to chemical stimulus; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; innate immune response; response to cadmium ion; regulation of sequence-specific DNA binding transcription factor activity; stress-activated MAPK cascade; positive regulation of gene expression; Toll signaling pathway; JUN phosphorylation; JNK cascade; response to stress; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; positive regulation of macrophage derived foam cell differentiation | 5q35 |
| MAPKAP1 | fibroblast growth factor receptor signaling pathway; T cell costimulation; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; response to stress | 9q33.3 |
| MAPKAPK2 | stress-activated MAPK cascade; response to lipopolysaccharide; protein phosphorylation; prostanoid metabolic process; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; regulation of tumor necrosis factor production; response to stress; regulation of interleukin-6 production; nerve growth factor receptor signaling pathway; G2/M transition DNA damage checkpoint; leukotriene biosynthetic process; peptidyl-serine phosphorylation; mRNA metabolic process; RNA metabolic process; gene expression; Toll signaling pathway; Ras protein signal transduction; inflammatory response; response to DNA damage stimulus; MAPK cascade; vascular endothelial growth factor receptor signaling pathway; innate immune response; 3'-UTR-mediated mRNA stabilization; activation of MAPK activity; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathw | 1q32 |
| MAPKAPK3 | toll-like receptor 3 signaling pathway; toll-like receptor signaling pathway; stress-activated MAPK cascade; nerve growth factor receptor signaling pathway; innate immune response; macropinocytosis; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; peptidyl-serine phosphorylation; activation of MAPK activity; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; response to stress; signal transduction; Ras protein signal transduction; response to lipopolysaccharide; Toll signaling pathway | 3p21.3 |
| MAPKAPK5 | regulation of translation; MAPK cascade; activation of MAPK activity; stress-induced premature senescence; Ras protein signal transduction; signal transduction; response to stress; negative regulation of TOR signaling cascade; protein autophosphorylation | 12q24.13 |
| MAPKAPK5-AS1 | - | 12q24.12 |
| MAPKAPK5P1 | - | - |
| MAPKBP1 | - | 15q15.1 |
| MAPRE1 | cell division; protein localization to microtubule; negative regulation of microtubule polymerization; cell proliferation; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; G2/M transition of mitotic cell cycle | 20q11.1-q11.23 |
| MAPRE1P3 | - | - |
| MAPRE2 | cell cycle; mitosis; signal transduction; cell proliferation; cell division | 18q12.1 |
| MAPRE3 | cell division; positive regulation of transcription, DNA-dependent; mitosis; cell cycle | 2p23.3-p23.1 |
| MAPT | microtubule cytoskeleton organization; apoptotic process; cellular component disassembly involved in apoptosis; negative regulation of microtubule depolymerization; cell death; regulation of autophagy; regulation of microtubule polymerization; positive regulation of microtubule polymerization; positive regulation of axon extension; generation of neurons | 17q21.1 |
| MAPT-AS1 | - | 17q21.31 |
| MAPT-IT1 | - | 17q21.31 |
| MARC1 | detoxification of nitrogen compound; nitrate metabolic process; oxidation-reduction process | 1q41 |
| MARC2 | detoxification of nitrogen compound; oxidation-reduction process; nitrate metabolic process | 1q41 |
| MARCH1 | protein polyubiquitination; antigen processing and presentation of peptide antigen via MHC class II; immune response | 4q32.2 |
| MARCH10 | - | 17q23.2 |
| MARCH11 | - | 5p15.1 |
| MARCH2 | endocytosis; protein ubiquitination | 19p13.2 |
| MARCH3 | endocytosis | 5q23.2 |
| MARCH4 | protein ubiquitination | 2q35 |
| MARCH5 | protein polyubiquitination; protein ubiquitination; protein autoubiquitination; regulation of mitochondrial fission; protein localization in mitochondrion; positive regulation of mitochondrial fission; negative regulation of cell aging | 10q23.32-q23.33 |
| MARCH6 | protein K48-linked ubiquitination; protein ubiquitination | 5p15.2 |
| MARCH7 | - | 2q24.2 |
| MARCH8 | protein polyubiquitination; negative regulation of MHC class II biosynthetic process; antigen processing and presentation of peptide antigen via MHC class II | 10q11.21 |
| MARCH9 | - | 12q14.1 |
| MARCKS | regulation of insulin secretion; small molecule metabolic process; energy reserve metabolic process | 6q22.2 |
| MARCKSL1 | vesicle-mediated transport; positive regulation of cell proliferation | 1p35.1 |
| MARCKSL1P2 | - | - |
| MARCO | pattern recognition receptor signaling pathway; cell surface receptor signaling pathway; innate immune response | 2q14.2 |
| MARK1 | microtubule cytoskeleton organization; neuron migration; protein phosphorylation; cytoskeleton organization; intracellular protein kinase cascade; Wnt receptor signaling pathway | 1q41 |
| MARK2 | neuron migration; protein phosphorylation; response to oxidative stress; intracellular protein kinase cascade; multicellular organismal development; positive regulation of neuron projection development; regulation of cytoskeleton organization; regulation of axonogenesis; protein autophosphorylation; establishment or maintenance of epithelial cell apical/basal polarity; cell differentiation; establishment of cell polarity; Wnt receptor signaling pathway | 11q13.1 |
| MARK2P10 | - | 7q21.3 |
| MARK2P5 | - | - |
| MARK2P8 | - | - |
| MARK2P9 | - | 10q23.33 |
| MARK3 | - | 14q32.3 |
| MARK4 | protein phosphorylation; G2/M transition of mitotic cell cycle; microtubule cytoskeleton organization; nervous system development; positive regulation of cell proliferation; microtubule bundle formation; Wnt receptor signaling pathway; positive regulation of programmed cell death; G1/S transition of mitotic cell cycle | 19q13.3 |
| MARS | gene expression; tRNA aminoacylation for protein translation; methionyl-tRNA aminoacylation | 12q13 |
| MARS2 | tRNA aminoacylation for protein translation; methionyl-tRNA aminoacylation; gene expression | 2q33.1 |
| MARVELD1 | cell cycle | 10q24.2 |
| MARVELD2 | sensory perception of sound | 5q13.2 |
| MARVELD3 | - | 16q22.2 |
| MAS1 | positive regulation of DNA replication; cellular response to peptide hormone stimulus; protein kinase C signaling cascade; positive regulation of inositol phosphate biosynthetic process; regulation of inflammatory response; response to drug; response to gonadotropin stimulus; hippocampus development; response to activity; male gonad development; positive regulation of cell proliferation; cell proliferation; spermatogenesis; activation of NF-kappaB-inducing kinase activity; G-protein coupled receptor signaling pathway; negative regulation of protein phosphorylation; anatomical structure morphogenesis | 6q25.3-q26 |
| MAS1LP1 | - | 6p22.1 |
| MASP1 | innate immune response; negative regulation of complement activation; complement activation; proteolysis; complement activation, lectin pathway | 3q27-q28 |
| MASP2 | complement activation, classical pathway; innate immune response; complement activation; proteolysis; complement activation, lectin pathway | 1p36.3-p36.2 |
| MAST1 | protein phosphorylation; intracellular protein kinase cascade; cytoskeleton organization | 19p13.2 |
| MAST2 | spermatid differentiation; regulation of interleukin-12 biosynthetic process; protein phosphorylation | 1p34.1 |
| MAST3 | - | 19p13.11 |
| MAST4 | - | 5q12.3 |
| MAST4-IT1 | - | - |
| MASTL | regulation of cell cycle; response to DNA damage stimulus; G2/M transition of mitotic cell cycle; mitosis; cell division; phosphorylation; negative regulation of protein phosphatase type 2A activity | 10p12.1 |
| MAT1A | cellular amino acid metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; methylation; xenobiotic metabolic process; S-adenosylmethionine biosynthetic process; sulfur amino acid metabolic process | 10q22 |
| MAT2A | xenobiotic metabolic process; response to cAMP; small molecule metabolic process; response to drug; cellular nitrogen compound metabolic process; methylation; response to light stimulus; circadian rhythm; response to hormone stimulus; S-adenosylmethionine biosynthetic process; sulfur amino acid metabolic process | 2p11.2 |
| MAT2B | xenobiotic metabolic process; sulfur amino acid metabolic process; S-adenosylmethionine biosynthetic process; extracellular polysaccharide biosynthetic process; small molecule metabolic process; cellular nitrogen compound metabolic process; methylation | 5q34-q35 |
| MATK | cell proliferation; positive regulation of cell proliferation; mesoderm development; protein phosphorylation | 19p13.3 |
| MATN1 | protein complex assembly | 1p35 |
| MATN1-AS1 | - | 1p35.2 |
| MATN3 | skeletal system development | 2p24-p23 |
| MATN4 | - | 20q13.1-q13.2 |
| MATR3 | - | 5q31.2 |
| MAU2 | chromosome segregation; cell division; maintenance of mitotic sister chromatid cohesion; mitosis; cell cycle | 19p13.11 |
| MAVS | innate immune response; interspecies interaction between organisms; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription factor import into nucleus; defense response to bacterium; positive regulation of protein import into nucleus, translocation; positive regulation of sequence-specific DNA binding transcription factor activity; cellular response to exogenous dsRNA; positive regulation of type I interferon-mediated signaling pathway; response to virus; positive regulation of tumor necrosis factor production; positive regulation of interleukin-8 production; positive regulation of interferon-beta production; positive regulation of interferon-alpha production; negative regulation of type I interferon production; positive regulation of IP-10 production; signal transduction; positive regulation of defense response to virus by host; positive regulation of chemokine (C-C motif) ligand 5 production; activat | 20p13 |
| MAX | transcription from RNA polymerase II promoter; retina development in camera-type eye; cellular response to peptide hormone stimulus; neuron apoptosis; response to axon injury; response to insulin stimulus; negative regulation of gene expression; response to organic nitrogen; cellular response to starvation; protein complex assembly; regulation of transcription, DNA-dependent | 14q23 |
| MAZ | regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase II promoter; termination of RNA polymerase II transcription | 16p11.2 |
| MB | heart development; response to hypoxia; transport; response to hormone stimulus; slow-twitch skeletal muscle fiber contraction; response to hydrogen peroxide; enucleate erythrocyte differentiation; brown fat cell differentiation | 22q13.1 |
| MB21D1 | response to virus | 6q13 |
| MB21D2 | - | 3q29 |
| MBD1 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent | 18q21 |
| MBD2 | negative regulation of transcription from RNA polymerase II promoter; positive regulation of Wnt receptor signaling pathway; regulation of cell proliferation; maternal behavior; cellular protein complex assembly; negative regulation of transcription, DNA-dependent | 18q21 |
| MBD3 | methylation-dependent chromatin silencing; in utero embryonic development; regulation of transcription, DNA-dependent; tissue development; negative regulation of transcription from RNA polymerase II promoter; histone acetylation | 19p13.3 |
| MBD3L1 | regulation of transcription, DNA-dependent | 19p13.2 |
| MBD3L2 | - | 19p13.2 |
| MBD4 | DNA repair; base-excision repair, AP site formation; base-excision repair; response to radiation; DNA damage response, signal transduction resulting in induction of apoptosis; depyrimidination | 3q21.3 |
| MBD5 | - | 2q23.1 |
| MBD6 | - | - |
| MBIP | inactivation of MAPK activity involved in osmosensory signaling pathway; histone H3 acetylation | 14q13.3 |
| MBL2 | complement activation; killing by host of symbiont cells; defense response to Gram-positive bacterium; positive regulation of phagocytosis; innate immune response; negative regulation of growth of symbiont in host; opsonization; response to oxidative stress; complement activation, classical pathway; acute-phase response; complement activation, lectin pathway | 10q11.2 |
| MBL3P | - | 10q22.3 |
| MBLAC1 | - | 7q22.1 |
| MBLAC2 | - | 5q14.3 |
| MBNL1 | RNA splicing; myoblast differentiation; regulation of RNA splicing; embryonic limb morphogenesis; skeletal muscle tissue development; mRNA processing; mRNA splice site selection; in utero embryonic development; regulation of alternative nuclear mRNA splicing, via spliceosome; nervous system development | 3q25 |
| MBNL1-AS1 | - | 3q25.1 |
| MBNL2 | mRNA processing; regulation of RNA splicing | 13q32.1 |
| MBNL3 | negative regulation of myoblast differentiation; mRNA processing; regulation of RNA splicing; multicellular organismal development | Xq26.2 |
| MBOAT1 | phospholipid biosynthetic process | 6p22.3 |
| MBOAT2 | phospholipid biosynthetic process | 2p25.1 |
| MBOAT4 | peptidyl-serine octanoylation | 8p12 |
| MBOAT7 | phospholipid biosynthetic process | 19q13.4 |
| MBP | immune response; synaptic transmission; central nervous system development; axon ensheathment | 18q23 |
| MBTD1 | regulation of transcription, DNA-dependent; chromatin modification | 17q21.33 |
| MBTPS1 | activation of signaling protein activity involved in unfolded protein response; regulation of transcription factor import into nucleus; endoplasmic reticulum unfolded protein response; cholesterol metabolic process; steroid metabolic process; metabolic process; lipid metabolic process; proteolysis | 16q24 |
| MBTPS2 | cholesterol metabolic process; steroid metabolic process; activation of signaling protein activity involved in unfolded protein response; proteolysis; endoplasmic reticulum unfolded protein response | Xp22.12-p22.11 |
| MC1R | positive regulation of cAMP biosynthetic process; positive regulation of protein kinase C signaling cascade; UV-damage excision repair; positive regulation of protein kinase B signaling cascade; positive regulation of transcription from RNA polymerase II promoter; pigmentation; negative regulation of tumor necrosis factor production; positive regulation of protein kinase A signaling cascade; UV protection; multicellular organismal development; intracellular protein kinase cascade; G-protein signaling, coupled to cyclic nucleotide second messenger | 16q24.3 |
| MC4R | positive regulation of bone resorption; response to insulin stimulus; positive regulation of cAMP biosynthetic process; regulation of metabolic process; diet induced thermogenesis; energy reserve metabolic process; G-protein signaling, coupled to cAMP nucleotide second messenger; feeding behavior; insulin secretion | 18q22 |
| MCAM | cell adhesion; vascular wound healing; glomerular filtration; anatomical structure morphogenesis | 11q23.3 |
| MCAT | metabolic process; fatty acid biosynthetic process | 22q13.31 |
| MCC | signal transduction; negative regulation of epithelial cell migration; Wnt receptor signaling pathway; negative regulation of epithelial cell proliferation; negative regulation of canonical Wnt receptor signaling pathway | 5q21 |
| MCCC1 | small molecule metabolic process; cellular nitrogen compound metabolic process; branched chain family amino acid catabolic process; biotin metabolic process; leucine catabolic process | 3q27 |
| MCCC2 | cellular nitrogen compound metabolic process; coenzyme A metabolic process; small molecule metabolic process; leucine catabolic process; branched chain family amino acid catabolic process | 5q12-q13 |
| MCCD1 | - | 6p21.33 |
| MCEE | L-methylmalonyl-CoA metabolic process; cellular lipid metabolic process; short-chain fatty acid catabolic process; fatty acid beta-oxidation; small molecule metabolic process | 2p13.3 |
| MCEMP1 | - | 19p13.2 |
| MCF2 | nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; apoptotic process; regulation of Rho protein signal transduction; intracellular signal transduction; induction of apoptosis by extracellular signals; small GTPase mediated signal transduction | Xq27 |
| MCF2L | regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; induction of apoptosis by extracellular signals; regulation of small GTPase mediated signal transduction; apoptotic process; small GTPase mediated signal transduction | 13q34 |
| MCF2L-AS1 | - | 13q34 |
| MCF2L2 | regulation of Rho protein signal transduction | 3q27.1 |
| MCFD2 | cellular protein metabolic process; carboxylic acid metabolic process; protein N-linked glycosylation via asparagine; vesicle-mediated transport; post-translational protein modification; protein transport | 2p21 |
| MCFD2P1 | - | 6p22.1 |
| MCHR2 | - | 6q16 |
| MCIDAS | - | 5q11.2 |
| MCL1 | cell fate determination; apoptotic process; anti-apoptosis; multicellular organismal development; cellular homeostasis; cell differentiation; response to cytokine stimulus; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand | 1q21 |
| MCM10 | mitotic cell cycle; DNA replication; cell cycle checkpoint; M/G1 transition of mitotic cell cycle; G1/S transition of mitotic cell cycle | 10p13 |
| MCM2 | DNA-dependent DNA replication initiation; cell cycle; nucleosome assembly; DNA strand elongation involved in DNA replication; DNA unwinding involved in replication; DNA replication; mitotic cell cycle; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint | 3q21 |
| MCM3 | cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; M/G1 transition of mitotic cell cycle; mitotic cell cycle; DNA replication; DNA-dependent DNA replication initiation; DNA strand elongation involved in DNA replication | 6p12 |
| MCM3AP | protein import into nucleus; DNA replication | 21q22.3 |
| MCM3AP-AS1 | - | 21q22.3 |
| MCM4 | DNA replication; DNA strand elongation involved in DNA replication; DNA-dependent DNA replication initiation; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; cell cycle checkpoint; G1/S transition of mitotic cell cycle; mitotic cell cycle | 8q11.2 |
| MCM5 | cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; M/G1 transition of mitotic cell cycle; mitotic cell cycle; DNA replication; DNA-dependent DNA replication initiation; DNA strand elongation involved in DNA replication | 22q13.1 |
| MCM6 | DNA-dependent DNA replication initiation; DNA strand elongation involved in DNA replication; DNA unwinding involved in replication; mitotic cell cycle; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; M/G1 transition of mitotic cell cycle; DNA replication | 2q21 |
| MCM7 | cell cycle checkpoint; regulation of phosphorylation; cell proliferation; response to DNA damage stimulus; DNA strand elongation involved in DNA replication; DNA-dependent DNA replication initiation; DNA unwinding involved in replication; DNA replication; mitotic cell cycle; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle | 7q21.3-q22.1 |
| MCM8 | M/G1 transition of mitotic cell cycle; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; mitotic cell cycle; DNA replication; DNA strand elongation involved in DNA replication; regulation of transcription, DNA-dependent | 20p12.3 |
| MCM9 | DNA replication | 6q22.31 |
| MCMBP | cell cycle; cell division; S phase of mitotic cell cycle; sister chromatid cohesion; DNA-dependent DNA replication; mitosis | 10q26.11 |
| MCMDC2 | DNA replication | 8q13.1 |
| MCOLN1 | calcium ion transport; cellular iron ion homeostasis; transferrin transport; transmembrane transport; cation transport | 19p13.2 |
| MCOLN2 | ion transport | 1p22 |
| MCOLN3 | ion transport; sensory perception of sound; locomotory behavior; auditory receptor cell differentiation | 1p22.3 |
| MCPH1 | - | 8p23.1 |
| MCRS1 | histone H4-K8 acetylation; histone H4-K5 acetylation; protein modification process; regulation of transcription, DNA-dependent; DNA recombination; DNA repair; histone H4-K16 acetylation | 12q13.12 |
| MCTP1 | calcium-mediated signaling | 5q15 |
| MCTP2 | calcium-mediated signaling | 15q26.2 |
| MCTS1 | response to DNA damage stimulus; cell cycle; regulation of transcription, DNA-dependent; positive regulation of cell proliferation; regulation of growth | Xq24 |
| MCTS2P | - | 20q11.2 |
| MCU | elevation of mitochondrial calcium ion concentration; protein complex oligomerization; calcium-mediated signaling; mitochondrial calcium ion transport; ion transport; calcium ion transmembrane transport | 10q22.1 |
| MCUR1 | - | 6p23 |
| MDC1 | double-strand break repair via homologous recombination; intra-S DNA damage checkpoint; cell cycle; double-strand break repair; DNA repair | 6p21.3 |
| MDFI | activation of JUN kinase activity; negative regulation of transcription from RNA polymerase II promoter; embryo development; dorsal/ventral axis specification; cell differentiation; negative regulation of Wnt receptor signaling pathway; cytoplasmic sequestering of transcription factor; negative regulation of DNA binding; embryonic skeletal system morphogenesis; trophoblast giant cell differentiation | 6p21 |
| MDFIC | negative regulation of protein import into nucleus; regulation of Wnt receptor signaling pathway; activation of JUN kinase activity; positive regulation of viral transcription; interspecies interaction between organisms; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent | 7q31.1-q31.2 |
| MDGA1 | cell differentiation; neuron migration; spinal cord association neuron differentiation; brain development; nervous system development; multicellular organismal development | 6p21 |
| MDGA2 | spinal cord motor neuron differentiation | 14q21.3 |
| MDH1 | glucose metabolic process; small molecule metabolic process; cellular carbohydrate metabolic process; malate metabolic process; tricarboxylic acid cycle; gluconeogenesis; carbohydrate metabolic process | 2p13.3 |
| MDH1B | carbohydrate metabolic process; malate metabolic process; tricarboxylic acid cycle | 2q33.3 |
| MDH2 | glucose metabolic process; small molecule metabolic process; cellular carbohydrate metabolic process; NADH metabolic process; internal protein amino acid acetylation; malate metabolic process; oxaloacetate metabolic process; tricarboxylic acid cycle; gluconeogenesis; carbohydrate metabolic process | 7cen-q22 |
| MDK | signal transduction; positive regulation of cell division; regulation of behavior; positive regulation of transcription, DNA-dependent; neuroprotection; defecation; adrenal gland development; cell differentiation; cerebral cortex development; dentate gyrus development; response to wounding; short-term memory; nervous system development; multicellular organismal development; cerebellar granular layer development; behavioral fear response | 11p11.2 |
| MDM1 | retina development in camera-type eye | 12q15 |
| MDM2 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; negative regulation of apoptotic process; negative regulation of DNA damage response, signal transduction by p53 class mediator; interspecies interaction between organisms; establishment of protein localization; negative regulation of transcription, DNA-dependent; positive regulation of mitotic cell cycle; response to antibiotic; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; negative regulation of cell cycle arrest; cellular response to hypoxia; regulation of protein catabolic process; protein localization to nucleus; cell cycle checkpoint; negative regulation of transcription from RNA polymerase II promoter; protein complex assembly; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; traversing start control point of mitotic cell cycle; epidermal growth factor receptor signaling pathway; synaptic transmission; positive regulation of cell prol | 12q14.3-q15 |
| MDM4 | negative regulation of cell cycle arrest; cellular response to hypoxia; protein stabilization; G0 to G1 transition; negative regulation of apoptotic process; negative regulation of protein catabolic process; positive regulation of cell proliferation; cell proliferation; apoptotic process; protein complex assembly; negative regulation of cell proliferation; negative regulation of transcription from RNA polymerase II promoter | 1q32 |
| MDN1 | protein complex assembly; ATP catabolic process | 6q15 |
| MDP1 | - | 14q12 |
| ME1 | protein tetramerization; small molecule metabolic process; cellular lipid metabolic process; response to carbohydrate stimulus; NADP biosynthetic process; malate metabolic process; carbohydrate metabolic process; response to hormone stimulus | 6q12 |
| ME2 | malate metabolic process | 18q21 |
| ME3 | oxygen metabolic process; oxidation-reduction process; aerobic respiration; malate metabolic process; pyruvate metabolic process | 11cen-q22.3 |
| MEA1 | cell differentiation; male gonad development; spermatogenesis; multicellular organismal development | 6p21.3-p21.1 |
| MEAF6 | histone H2A acetylation; chromatin modification; histone H3-K14 acetylation; histone H4-K16 acetylation; histone H4-K12 acetylation; histone H4-K8 acetylation; histone H4-K5 acetylation; regulation of transcription, DNA-dependent | 1p35.3-p33 |
| MECOM | inflammatory response; response to bacterium; response to external stimulus; regulation of cell cycle; apoptotic process; regulation of transcription, DNA-dependent; neutrophil homeostasis; in utero embryonic development; hemopoietic stem cell proliferation; cell differentiation; pericardium development; post-embryonic development; negative regulation of JNK cascade; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of programmed cell death; regulation of cell proliferation; embryonic hindlimb morphogenesis; embryonic forelimb morphogenesis; forebrain development; negative regulation of transforming growth factor beta receptor signaling pathway | 3q26.2 |
| MECP2 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent | Xq28 |
| MECR | fatty acid biosynthetic process; fatty acid metabolic process | 1p35.3 |
| MED1 | positive regulation of protein import into nucleus, translocation; organ regeneration; androgen receptor signaling pathway; intracellular steroid hormone receptor signaling pathway; monocyte differentiation; keratinocyte differentiation; negative regulation of keratinocyte proliferation; positive regulation of gene expression; gene expression; lactation; brain development; multicellular organismal development; androgen biosynthetic process; thyroid hormone generation; transcription initiation from RNA polymerase II promoter; regulation of transcription from RNA polymerase I promoter; DNA replication; retinal pigment epithelium development; ventricular trabecula myocardium morphogenesis; thyroid hormone mediated signaling pathway; lens development in camera-type eye; embryonic placenta development; liver development; angiogenesis; cell morphogenesis; negative regulation of transcription from RNA polymerase II promoter; regulation of RNA biosynthetic process; embryonic heart tube development; positive regulatio | 17q12 |
| MED10 | gene expression; positive regulation of transcription from RNA polymerase II promoter | 5p15.31 |
| MED11 | regulation of transcription from RNA polymerase II promoter | 17p13.2 |
| MED12 | positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; androgen receptor signaling pathway; intracellular steroid hormone receptor signaling pathway; negative regulation of Wnt receptor signaling pathway; gene expression; transcription initiation from RNA polymerase II promoter | Xq13 |
| MED12L | regulation of transcription from RNA polymerase II promoter | 3q25.1 |
| MED13 | gene expression; androgen receptor signaling pathway; positive regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; intracellular steroid hormone receptor signaling pathway | 17q22-q23 |
| MED13L | regulation of transcription from RNA polymerase II promoter | 12q24.21 |
| MED14 | regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; androgen receptor signaling pathway; intracellular steroid hormone receptor signaling pathway; gene expression; transcription initiation from RNA polymerase II promoter | Xp11.4 |
| MED15 | regulation of transcription from RNA polymerase II promoter; gene expression | 22q11.2 |
| MED15P5 | - | 2q21.1 |
| MED15P7 | - | - |
| MED15P9 | - | 2q21.2 |
| MED16 | transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; androgen receptor signaling pathway; intracellular steroid hormone receptor signaling pathway; gene expression; transcription initiation from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 19p13.3 |
| MED17 | transcription initiation from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; gene expression; positive regulation of transcription, DNA-dependent; intracellular steroid hormone receptor signaling pathway; androgen receptor signaling pathway | 11q14 |
| MED18 | regulation of transcription from RNA polymerase II promoter | 1p35.3 |
| MED19 | regulation of transcription from RNA polymerase II promoter | 11q12.1 |
| MED20 | regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; transcription, DNA-dependent; gene expression | 6p21.1 |
| MED21 | blastocyst development; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter | 12p11.23 |
| MED22 | regulation of transcription from RNA polymerase II promoter | 9q34.2 |
| MED23 | regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; gene expression | 6q22.33-q24.1 |
| MED24 | protein heterooligomerization; regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase II promoter; gene expression; intracellular steroid hormone receptor signaling pathway; androgen receptor signaling pathway; positive regulation of transcription, DNA-dependent | 17q21.1 |
| MED25 | gene expression; positive regulation of mediator complex assembly; positive regulation of cell cycle arrest; negative regulation of fibroblast proliferation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of chromatin binding; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 19q13.3 |
| MED26 | regulation of transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; gene expression | 19p13.11 |
| MED27 | regulation of transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; gene expression | 9q34.13 |
| MED28 | regulation of transcription, DNA-dependent | 4p16 |
| MED29 | regulation of transcription, DNA-dependent | 19q13.2 |
| MED30 | transcription initiation from RNA polymerase II promoter; gene expression; intracellular steroid hormone receptor signaling pathway; androgen receptor signaling pathway; positive regulation of transcription, DNA-dependent | 8q24.11 |
| MED31 | regulation of transcription, DNA-dependent; protein complex assembly; gene expression | 17p13.1 |
| MED4 | androgen receptor signaling pathway; positive regulation of transcription, DNA-dependent; intracellular steroid hormone receptor signaling pathway; gene expression; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 13q14.2 |
| MED4-AS1 | - | - |
| MED6 | positive regulation of transcription from RNA polymerase II promoter; gene expression; regulation of transcription from RNA polymerase II promoter | 14q24.2 |
| MED7 | regulation of transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; gene expression | 5q33.3 |
| MED8 | regulation of transcription from RNA polymerase II promoter; gene expression | 1p34.2 |
| MED9 | regulation of transcription from RNA polymerase II promoter | 17p11.2 |
| MEDAG | - | 13q12.3 |
| MEF2A | toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; muscle cell differentiation; innate immune response; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; mitochondrion distribution; dendrite morphogenesis; positive regulation of muscle cell differentiation; stress-activated MAPK cascade; ventricular cardiac myofibril development; cardiac conduction; ERK5 cascade; cellular response to calcium ion; TRIF-dependent toll-like receptor signaling pathway; Toll signaling pathway; toll-like receptor 1 signaling pathway; mitochondrial genome maintenance; negative regulation of transcription from RNA polymerase II promoter; MAPK cascade; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; transcription, DNA-dependent; apoptotic process; multicellular organismal development; nervous system de | 15q26 |
| MEF2C | innate immune response; positive regulation of skeletal muscle tissue development; regulation of megakaryocyte differentiation; positive regulation of myoblast differentiation; positive regulation of neuron differentiation; positive regulation of osteoblast differentiation; positive regulation of survival gene product expression; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; positive regulation of B cell proliferation; negative regulation of neuron apoptosis; muscle cell differentiation; B cell proliferation; cellular response to trichostatin A; cellular response to drug; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; cellular response to parathyroid hormone stimulus; positive regulation of skeletal muscle cell differentiat | 5q14.3 |
| MEF2C-AS1 | - | 5q14.3 |
| MEF2D | chondrocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; muscle organ development; adult heart development; nervous system development; multicellular organismal development; apoptotic process; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; endochondral ossification; osteoblast differentiation | 1q12-q23 |
| MEFV | inflammatory response; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response | 16p13.3 |
| MEG3 | - | 14q32 |
| MEG9 | - | - |
| MEGF10 | phagocytosis; cell adhesion | 5q33 |
| MEGF11 | - | 15q22.31 |
| MEGF6 | - | 1p36.3 |
| MEGF8 | - | 19q12 |
| MEGF9 | - | 9q32-q33.3 |
| MEI1 | gamete generation; male meiosis I; meiosis; spermatid development | 22q13.2 |
| MEI4 | - | - |
| MEIG1 | spermatogenesis; cell differentiation | 10p13 |
| MEIOB | - | 16p13.3 |
| MEIOC | - | 17q21.31 |
| MEIS1 | multicellular organismal development | 2p14 |
| MEIS2 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 15q14 |
| MEIS3 | - | 19q13.32 |
| MEIS3P1 | - | 17p12 |
| MEIS3P2 | - | 17p11.2 |
| MELK | apoptotic process; cell cycle; cell proliferation; hemopoiesis; positive regulation of apoptotic process; protein autophosphorylation; neural precursor cell proliferation; G2/M transition of mitotic cell cycle | 9p13.2 |
| MEMO1 | regulation of microtubule-based process | 1p36.1-p35 |
| MEMO1P1 | - | 21q22.12 |
| MEN1 | response to DNA damage stimulus; positive regulation of protein binding; positive regulation of histone methylation; positive regulation of transforming growth factor beta receptor signaling pathway; response to gamma radiation; embryo development; response to UV; negative regulation of cell proliferation; brain development; cell cycle arrest; hemopoiesis; chromatin remodeling; DNA repair; osteoblast development; osteoblast fate commitment; negative regulation of protein phosphorylation; leukocyte homeostasis; MAPK cascade; ossification; negative regulation of transcription from RNA polymerase II promoter; histone lysine methylation; maternal process involved in female pregnancy; palate development; negative regulation of telomerase activity; positive regulation of cell division; embryonic skeletal system morphogenesis; negative regulation of organ growth; negative regulation of JNK cascade; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-depende | 11q13 |
| MEOX1 | multicellular organismal development; positive regulation of transcription from RNA polymerase II promoter; somite specification | 17q21 |
| MEOX2 | angiogenesis; somite specification; multicellular organismal development; skeletal muscle tissue development; blood circulation; palate development; limb development | 7p22.1-p21.3 |
| MEOX2-AS1 | - | - |
| MEP1A | digestion; proteolysis | 6p12-p11 |
| MEP1AP2 | - | 9q21.11 |
| MEP1B | proteolysis; digestion | 18q12.2-q12.3 |
| MEPCE | - | 7q22.1 |
| MEPE | skeletal system development | 4q21.1 |
| MERTK | negative regulation of lymphocyte activation; leukocyte migration; protein kinase B signaling cascade; apoptotic cell clearance; secretion by cell; substrate adhesion-dependent cell spreading; retina development in camera-type eye; vagina development; protein phosphorylation; phagocytosis; cell surface receptor signaling pathway; cell-cell signaling; spermatogenesis; blood coagulation; platelet activation; natural killer cell differentiation | 2q14.1 |
| MESDC1 | - | 15q13 |
| MESDC2 | protein folding; protein localization at cell surface; Wnt receptor signaling pathway; mesoderm development | 15q13 |
| MESP1 | embryonic heart tube morphogenesis; heart looping; gastrulation; multicellular organismal development; cardioblast anterior-lateral migration; growth involved in heart morphogenesis; sinus venosus morphogenesis; cardiac ventricle formation; cardiac atrium formation; secondary heart field specification; lateral mesoderm development; positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway; positive regulation of hepatocyte differentiation; cardioblast migration to the midline involved in heart field formation; cardiac vascular smooth muscle cell differentiation; sinoatrial node cell differentiation; cardiac cell fate determination; cardiac muscle cell differentiation; positive regulation of striated muscle cell differentiation; neurogenesis; mesodermal cell migration; signal transduction involved in regulation of gene expression; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative re | 15q26.1 |
| MESP2 | mesodermal cell migration; positive regulation of transcription from RNA polymerase II promoter; signal transduction involved in regulation of gene expression; multicellular organismal development; Notch signaling pathway; somitogenesis | 15q26.1 |
| MEST | mesoderm development; regulation of lipid storage; response to retinoic acid | 7q32 |
| MESTIT1 | - | 7q32.2 |
| MESTP1 | - | 6q22-q23 |
| MESTP3 | - | 4p15.1 |
| MESTP4 | - | 3p24.1 |
| MET | branching morphogenesis of a tube; hepatocyte growth factor receptor signaling pathway; cell proliferation; axon guidance; multicellular organismal development; cell surface receptor signaling pathway; signal transduction | 7q31 |
| METAP1 | N-terminal protein amino acid modification; peptidyl-methionine modification; cellular process; proteolysis; regulation of translation | 4q23 |
| METAP1D | proteolysis; cellular process; peptidyl-methionine modification; N-terminal protein amino acid modification | 2q31.1 |
| METAP2 | proteolysis; cellular process; protein processing; peptidyl-methionine modification; N-terminal protein amino acid modification | 12q22 |
| METRN | multicellular organismal development; nervous system development; glial cell differentiation; positive regulation of axonogenesis | 16p13.3 |
| METRNL | - | 17q25.3 |
| METTL1 | tRNA modification | 12q13 |
| METTL10 | - | 10q26.13 |
| METTL12 | - | 11q12.3 |
| METTL13 | metabolic process | 1q24-q25.3 |
| METTL14 | RNA methylation; nucleobase-containing compound metabolic process | 4q26 |
| METTL15 | - | 11p14.1 |
| METTL15P1 | - | 3q25.31 |
| METTL15P3 | - | Xp22.11 |
| METTL17 | translation | 14q11.2 |
| METTL18 | - | 1q24.2 |
| METTL20 | - | 12p11.21 |
| METTL21A | - | 2q33.3 |
| METTL21AP1 | - | - |
| METTL21B | - | 12q14.1 |
| METTL21C | - | 13q33.1 |
| METTL21EP | - | 13q33.1 |
| METTL22 | - | 16p13.2 |
| METTL23 | - | 17q25.1 |
| METTL25 | - | 12q21.31 |
| METTL2A | - | 17q23.2 |
| METTL2B | - | 7q32.1 |
| METTL3 | RNA methylation; gene expression; nucleobase-containing compound metabolic process | 14q11.1 |
| METTL4 | nucleobase-containing compound metabolic process | 18p11.32 |
| METTL5 | - | 2q31.1 |
| METTL6 | - | 3p25.1 |
| METTL7A | metabolic process | 12q13.12 |
| METTL7AP1 | - | - |
| METTL7B | metabolic process | 12q13.2 |
| METTL8 | - | 2q31.1 |
| METTL9 | - | 16p12.2 |
| MEX3A | - | 1q22 |
| MEX3B | protein autophosphorylation; protein phosphorylation | 15q25.2 |
| MEX3C | - | 18q21.2 |
| MEX3D | mRNA destabilization; regulation of anti-apoptosis; posttranscriptional regulation of gene expression by mRNA localization | 19p13.3 |
| MFAP1 | - | 15q15-q21 |
| MFAP1P1 | - | 13q12.3 |
| MFAP2 | platelet formation | 1p36.1-p35 |
| MFAP3 | - | 5q32-q33.2 |
| MFAP3L | - | 4q32.3 |
| MFAP4 | cell adhesion; signal transduction | 17p11.2 |
| MFAP5 | - | 12p13.1-p12.3 |
| MFF | - | 2q36.3 |
| MFGE8 | interspecies interaction between organisms; positive regulation of apoptotic cell clearance; positive regulation of cell proliferation; single fertilization; response to estrogen stimulus; angiogenesis; phagocytosis, recognition; phagocytosis, engulfment; cell adhesion | 15q25 |
| MFHAS1 | - | 8p23.1 |
| MFI2 | iron ion transport; cellular iron ion homeostasis; ion transport | 3q28-q29 |
| MFI2-AS1 | - | - |
| MFN1 | mitochondrial fusion; GTP catabolic process | 3q26.33 |
| MFN2 | blood coagulation; cell cycle arrest; mitochondrial membrane organization; protein targeting to mitochondrion; blastocyst formation; mitochondrion localization; negative regulation of smooth muscle cell proliferation; camera-type eye morphogenesis; negative regulation of Ras protein signal transduction; mitochondrial fusion | 1p36.22 |
| MFNG | pattern specification process | 22q12 |
| MFSD1 | transmembrane transport | 3q25.32 |
| MFSD10 | transmembrane transport; tetracycline transport; apoptotic process; transport | 4p16.3 |
| MFSD11 | - | 17q25 |
| MFSD12 | transport | 19p13.3 |
| MFSD13A | - | 10q24.32 |
| MFSD14A | transmembrane transport | 1p21.2 |
| MFSD14B | transmembrane transport | 9q22.32 |
| MFSD14C | transmembrane transport | 9q22.33 |
| MFSD2A | transport | 1p34.2 |
| MFSD2B | transport | 2p23.3 |
| MFSD3 | transmembrane transport | 8q24.3 |
| MFSD4 | transmembrane transport | 1q32.1 |
| MFSD5 | transport | 12q13.13 |
| MFSD6 | transmembrane transport | 2q32.2 |
| MFSD6L | - | 17p13.1 |
| MFSD7 | transmembrane transport | 4p16.3 |
| MFSD8 | transmembrane transport; cell death | 4q28.2 |
| MFSD9 | transmembrane transport | 2q12.1 |
| MGA | - | 15q14 |
| MGAM | starch catabolic process; polysaccharide digestion; small molecule metabolic process; carbohydrate metabolic process | 7q34 |
| MGAM2 | - | 7q34 |
| MGARP | - | 4q31.1 |
| MGAT1 | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; protein glycosylation; carbohydrate metabolic process | 5q35 |
| MGAT2 | protein N-linked glycosylation via asparagine; oligosaccharide biosynthetic process; oligosaccharide metabolic process; protein N-linked glycosylation; post-translational protein modification; cellular protein metabolic process | 14q21 |
| MGAT3 | cellular protein metabolic process; protein N-linked glycosylation via asparagine; post-translational protein modification | 22q13.1 |
| MGAT4A | post-translational protein modification; protein N-linked glycosylation via asparagine; carbohydrate metabolic process; cellular protein metabolic process; N-glycan processing | 2q12 |
| MGAT4B | carbohydrate metabolic process; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; N-glycan processing | 5q35 |
| MGAT4C | carbohydrate metabolic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 12q21 |
| MGAT4D | - | 4q31.1 |
| MGAT4EP | - | 1q31 |
| MGAT5 | protein N-linked glycosylation via asparagine; cellular protein metabolic process; metabolic process; protein N-linked glycosylation; post-translational protein modification | 2q21.3 |
| MGAT5B | - | 17q25.2 |
| MGC10814 | - | 19p13.11 |
| MGC12488 | - | - |
| MGC12916 | - | 17p12 |
| MGC13053 | - | 11q23.3 |
| MGC16025 | - | 2q37.3 |
| MGC16142 | - | 7q21.2 |
| MGC16275 | - | 17q25.1 |
| MGC20647 | - | 22q12.1 |
| MGC24103 | - | 9p22.3 |
| MGC27345 | - | 7q32.1 |
| MGC27382 | - | 1p31.1 |
| MGC2848 | - | 3q22.1 |
| MGC32805 | - | 5q23.2 |
| MGC34800 | - | 16p11.2 |
| MGC39584 | - | 4q35.2 |
| MGC40069 | - | 14q11.2 |
| MGC4294 | - | 20q13.32 |
| MGC4859 | - | 7p |
| MGC57346 | - | 17q21.31 |
| MGC70870 | - | - |
| MGC72080 | - | 7q21.3 |
| MGEA5 | positive regulation of cell killing; positive regulation of DNA metabolic process; positive regulation of mitochondrial depolarization; N-acetylglucosamine metabolic process; response to steroid hormone stimulus; positive regulation of glucose import; protein targeting to membrane; glycoprotein catabolic process; dATP metabolic process; negative regulation of protein glycosylation; positive regulation of growth hormone secretion; necrotic cell death; positive regulation of proteolysis; aging; positive regulation of calcium ion transport into cytosol; negative regulation of cardiac muscle adaptation; positive regulation of protein complex disassembly; positive regulation of insulin secretion | 10q24.1-q24.3 |
| MGLL | acylglycerol catabolic process; small molecule metabolic process; platelet activation; regulation of inflammatory response; regulation of sensory perception of pain; long term synaptic depression; regulation of endocannabinoid signaling pathway; lipid catabolic process; triglyceride catabolic process; arachidonic acid metabolic process; lipid metabolic process; fatty acid biosynthetic process; inflammatory response; blood coagulation; regulation of signal transduction | 3q21.3 |
| MGME1 | - | 20p11.23 |
| MGMT | DNA ligation; cellular response to organic cyclic compound; cellular response to ionizing radiation; mammary gland epithelial cell differentiation; negative regulation of cell death; response to folic acid; positive regulation of DNA repair; response to ethanol; regulation of cysteine-type endopeptidase activity involved in apoptotic process; response to drug; methylation; response to toxin; DNA dealkylation involved in DNA repair; DNA methylation; DNA repair; cellular response to oxidative stress | 10q26 |
| MGP | response to calcium ion; cartilage condensation; ossification; multicellular organismal development; response to nutrient; response to mechanical stimulus; response to hormone stimulus; cell differentiation; lung development; regulation of bone mineralization; branching morphogenesis of a tube | 12p12.3 |
| MGRN1 | negative regulation of G-protein coupled receptor protein signaling pathway; negative regulation of cAMP-mediated signaling; protein ubiquitination; endosome to lysosome transport; protein monoubiquitination | 16p13.3 |
| MGST1 | glutathione metabolic process; xenobiotic metabolic process; response to organic nitrogen; response to lipopolysaccharide; Leydig cell differentiation; small molecule metabolic process; response to drug; protein homotrimerization | 12p12.3-p12.1 |
| MGST2 | leukotriene production involved in inflammatory response; small molecule metabolic process; response to lipopolysaccharide; leukotriene biosynthetic process; response to organic nitrogen; xenobiotic metabolic process; glutathione biosynthetic process | 4q28.3 |
| MGST3 | small molecule metabolic process; leukotriene biosynthetic process; signal transduction; xenobiotic metabolic process; lipid metabolic process; leukotriene production involved in inflammatory response | 1q23 |
| MIA | cell proliferation | 19q13.2 |
| MIA2 | - | 14q13.2 |
| MIA3 | wound healing; negative regulation of cell migration; positive regulation of leukocyte migration; exocytosis; negative regulation of cell adhesion; protein transport | 1q41 |
| MIAT | - | 22q12.1 |
| MIATNB | - | 22q12.1 |
| MIB1 | somitogenesis; positive regulation of endocytosis; in utero embryonic development; blood vessel development; neural tube formation; heart looping; Notch signaling pathway; negative regulation of neuron differentiation; heart development | 18q11.2 |
| MIB2 | Notch signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction | 1p36.33 |
| MICA | defense response to bacterium; gamma-delta T cell activation; antigen processing and presentation; cytolysis; regulation of immune response; immune response to tumor cell; immune response; response to DNA damage stimulus; response to heat; stimulatory C-type lectin receptor signaling pathway; defense response to virus | 6p21.33 |
| MICAL1 | cytoskeleton organization; signal transduction; oxidation-reduction process | 6q21 |
| MICAL2 | - | 11p15.3 |
| MICAL3 | - | 22q11.21 |
| MICALCL | multicellular organismal development; spermatogenesis; cell differentiation | 11p15.3 |
| MICALL1 | - | 22q13.1 |
| MICALL2 | endocytosis | 7p22.3 |
| MICB | response to retinoic acid; immune response-activating cell surface receptor signaling pathway; interspecies interaction between organisms; gamma-delta T cell activation; negative regulation of defense response to virus by host; regulation of immune response; antigen processing and presentation; cytolysis; response to heat; response to oxidative stress; immune response | 6p21.3 |
| MICE | - | 6p21.3 |
| MICU1 | defense response; ion transport; calcium ion transport; elevation of mitochondrial calcium ion concentration; calcium ion import | 10q22.1 |
| MICU2 | - | 13q12.11 |
| MICU3 | - | 8p22 |
| MID1 | microtubule cytoskeleton organization; negative regulation of microtubule depolymerization; pattern specification process; positive regulation of stress-activated MAPK cascade | Xp22 |
| MID1IP1 | positive regulation of ligase activity; protein polymerization; regulation of lipid biosynthetic process; positive regulation of fatty acid biosynthetic process; negative regulation of microtubule depolymerization | Xp11.4 |
| MID1IP1-AS1 | - | - |
| MID2 | - | Xq22.3 |
| MIDN | - | 19p13.3 |
| MIEF1 | mitochondrial fusion | 22q13 |
| MIEF2 | mitochondrion organization | 17p11.2 |
| MIEN1 | positive regulation of cell migration; positive regulation of filopodium assembly; cell redox homeostasis; negative regulation of apoptotic process | 17q12 |
| MIER1 | positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of chromatin silencing; signal transduction; regulation of transcription, DNA-dependent | 1p31.3 |
| MIER2 | regulation of transcription, DNA-dependent | 19p13.3 |
| MIER3 | regulation of transcription, DNA-dependent | 5q11.2 |
| MIF | negative regulation of cell aging; negative regulation of cell cycle arrest; positive regulation of cytokine secretion; positive regulation of phosphorylation; positive regulation of peptidyl-serine phosphorylation; positive regulation of B cell proliferation; carboxylic acid metabolic process; regulation of macrophage activation; negative regulation of apoptotic process; negative regulation of DNA damage response, signal transduction by p53 class mediator; cell proliferation; innate immune response; positive regulation of fibroblast proliferation; positive regulation of peptidyl-tyrosine phosphorylation; positive chemotaxis; protein homotrimerization; positive regulation of ERK1 and ERK2 cascade; negative regulation of gene expression; positive regulation of protein kinase A signaling cascade; cell surface receptor signaling pathway; inflammatory response; prostaglandin biosynthetic process | 22q11.23 |
| MIF-AS1 | - | 22q11.23 |
| MIF4GD | RNA metabolic process; regulation of translation | 17q25.1 |
| MIG7 | - | 1p22.1 |
| MIIP | - | 1p36.22 |
| MILR1 | negative regulation of mast cell activation; mast cell degranulation | 17q23.3 |
| MINA | ribosome biogenesis | 3q11.2 |
| MINK1 | actin cytoskeleton reorganization; regulation of cell-matrix adhesion; regulation of cell-cell adhesion; regulation of cell migration; negative thymic T cell selection; synaptic transmission; JNK cascade; intracellular protein kinase cascade; response to stress; protein phosphorylation; protein autophosphorylation; dendrite morphogenesis; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; multicellular organismal development; positive regulation of JNK cascade | 17p13.2 |
| MINOS1 | - | 1p36.13 |
| MINOS1P1 | - | 13q13.1 |
| MINPP1 | ossification; polyphosphate metabolic process; bone mineralization | 10q23 |
| MIOS | - | 7p21.3 |
| MIOX | inositol catabolic process | 22q13.3 |
| MIP | response to stimulus; transmembrane transport; canalicular bile acid transport; visual perception; water transport; lens development in camera-type eye | 12q13 |
| MIPEP | proteolysis; protein processing involved in protein targeting to mitochondrion | 13q12 |
| MIPEPP1 | - | - |
| MIPEPP2 | - | 1q43 |
| MIPEPP3 | - | 13q12.11 |
| MIPOL1 | - | 14q13.3 |
| MIR1-1HG | - | 20q13.33 |
| MIR100 | - | 11q24.1 |
| MIR100HG | - | 11q24.1 |
| MIR101-2 | - | 9p24.1 |
| MIR103A1 | - | 5q34 |
| MIR105-1 | - | Xq28 |
| MIR105-2 | - | Xq28 |
| MIR106B | - | 7q22.1 |
| MIR10A | - | 17q21.32 |
| MIR124-2HG | - | 8q12.3 |
| MIR124-3 | - | 20q13.33 |
| MIR1244-3 | - | - |
| MIR1247 | - | - |
| MIR1250 | - | - |
| MIR1251 | - | - |
| MIR125A | - | 19q13.41 |
| MIR128-2 | - | 3p22.3 |
| MIR1282 | - | - |
| MIR129-1 | - | 7q32.1 |
| MIR130A | - | 11q12.1 |
| MIR132 | - | 17p13.3 |
| MIR133A2 | - | 20q13.33 |
| MIR133B | - | 6p12.2 |
| MIR134 | - | 14q32.31 |
| MIR135A2 | - | 12q23.1 |
| MIR136 | - | 14q32.2 |
| MIR137HG | - | 1p21.3 |
| MIR138-2 | - | 16q13 |
| MIR140 | - | 16q22.1 |
| MIR141 | - | 12p13.31 |
| MIR142 | - | 17q22 |
| MIR147A | - | 9q33.2 |
| MIR148A | - | 7p15.2 |
| MIR150 | - | 19q13.33 |
| MIR153-1 | - | 2q35 |
| MIR153-2 | - | 7q36.3 |
| MIR1539 | - | - |
| MIR154 | - | 14q32.31 |
| MIR155HG | - | - |
| MIR15A | - | 13q14.2 |
| MIR15B | - | 3q25.33 |
| MIR17HG | - | 13q31.3 |
| MIR181A1 | - | 1q32.1 |
| MIR181A1HG | - | 1q32.1 |
| MIR181A2 | - | 9q33.3 |
| MIR181A2HG | - | 9q33.3 |
| MIR181B1 | - | 1q32.1 |
| MIR181B2 | - | 9q33.3 |
| MIR183 | - | 7q32.2 |
| MIR186 | - | 1p31.1 |
| MIR18B | - | Xq26.2 |
| MIR193A | - | 17q11.2 |
| MIR194-2 | - | 11q13.1 |
| MIR196A1 | - | 17q21.32 |
| MIR196A2 | - | 12q13.13 |
| MIR199A1 | - | 19p13.2 |
| MIR199B | - | 9q34.11 |
| MIR19B2 | - | Xq26.2 |
| MIR200A | - | 1p36.33 |
| MIR200C | - | 12p13.31 |
| MIR205 | - | 1q32.2 |
| MIR2052HG | - | 8q21.11 |
| MIR205HG | - | 1q32.2 |
| MIR208A | - | 14q11.2 |
| MIR210HG | - | 11p15.5 |
| MIR211 | - | 15q13.3 |
| MIR216A | - | 2p16.1 |
| MIR216B | - | 2p16.1 |
| MIR218-1 | - | 4p15.31 |
| MIR218-2 | - | 5q34 |
| MIR221 | - | Xp11.3 |
| MIR222 | - | Xp11.3 |
| MIR22HG | - | 17p13.3 |
| MIR23A | - | 19p13.13 |
| MIR25 | - | 7q22.1 |
| MIR28 | - | 3q28 |
| MIR299 | - | 14q32.31 |
| MIR301A | - | 17q22 |
| MIR302B | - | 4q25 |
| MIR30B | - | 8q24.22 |
| MIR30C1 | - | 1p34.2 |
| MIR30C2 | - | 6q13 |
| MIR30D | - | 8q24.22 |
| MIR31 | - | 9p21.3 |
| MIR3120 | - | - |
| MIR3167 | - | - |
| MIR3180-4 | - | - |
| MIR3189 | - | - |
| MIR31HG | - | 9p21.3 |
| MIR32 | - | 9q31.3 |
| MIR320A | - | 8p21.3 |
| MIR320C1 | - | - |
| MIR323B | - | 14q32.31 |
| MIR331 | - | 12q22 |
| MIR33A | - | 22q13.2 |
| MIR34A | - | 1p36.22|1p36.22 |
| MIR34B | - | 11q23.1 |
| MIR3605 | - | - |
| MIR3663HG | - | 10q25.3 |
| MIR3682 | - | - |
| MIR3684 | - | - |
| MIR377 | - | 14q32.31 |
| MIR378D2 | - | - |
| MIR378E | - | - |
| MIR3916 | - | - |
| MIR3936 | - | - |
| MIR3940 | - | - |
| MIR3943 | - | - |
| MIR3944 | - | - |
| MIR3945HG | - | - |
| MIR410 | - | 14q32.31 |
| MIR4287 | - | - |
| MIR429 | - | 1p36.33 |
| MIR4313 | - | - |
| MIR4422 | - | - |
| MIR4426 | - | - |
| MIR4435-2HG | - | 2q13 |
| MIR4500HG | - | 13q31.2 |
| MIR4523 | - | - |
| MIR4530 | - | - |
| MIR4667 | - | - |
| MIR4675 | - | - |
| MIR4697HG | - | 11q25 |
| MIR4730 | - | - |
| MIR4749 | - | - |
| MIR485 | - | 14q32.31 |
| MIR487A | - | 14q32.31 |
| MIR494 | - | 14q32.31 |
| MIR5002 | - | - |
| MIR503 | - | Xq26.3 |
| MIR503HG | - | Xq26.3 |
| MIR519A2 | - | 19q13.42 |
| MIR543 | - | 14q32.31 |
| MIR551B | - | 3q26.2 |
| MIR573 | - | 4p15.2 |
| MIR600HG | - | 9q33.3 |
| MIR601 | - | 9q33.3 |
| MIR604 | - | 10p11.23 |
| MIR622 | - | 13q31.3 |
| MIR626 | - | 15q15.1 |
| MIR635 | - | 17q24.2 |
| MIR646HG | - | 20q13.33 |
| MIR659 | - | 22q13.1 |
| MIR663AHG | - | 20p11.1 |
| MIR6807 | - | - |
| MIR7-3HG | - | 19p13.3 |
| MIR873 | - | 9p21.1 |
| MIR877 | - | 6p21.33 |
| MIR9-1 | - | 1q22 |
| MIR9-3HG | - | 15q26.1 |
| MIR924HG | - | 18q12.2-q12.3 |
| MIR93 | - | 7q22.1 |
| MIR936 | - | 10q25.1 |
| MIR940 | - | 16p13.3 |
| MIR96 | - | 7q32.2 |
| MIR98 | - | Xp11.22 |
| MIR99A | - | 21q21.1 |
| MIR99AHG | - | 21q21.1 |
| MIR99B | - | 19q13.41 |
| MIRLET7A1 | - | 9q22.32 |
| MIRLET7A2 | - | 11q24.1 |
| MIRLET7BHG | - | 22q13.31 |
| MIRLET7C | - | 21q21.1 |
| MIRLET7D | - | 9q22.32 |
| MIRLET7E | - | 19q13.41 |
| MIRLET7F1 | - | 9q22.32 |
| MIRLET7G | - | 3p21.1 |
| MIRLET7I | - | 12q14.1 |
| MIS12 | cell division; kinetochore assembly; chromosome segregation; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 17p13.2 |
| MIS18A | CenH3-containing nucleosome assembly at centromere; cell cycle; mitosis; nucleosome assembly; cell division | 21q22.11 |
| MIS18BP1 | cell division; CenH3-containing nucleosome assembly at centromere; mitosis; nucleosome assembly; cell cycle | 14q21.2 |
| MISP | - | 19p13.3 |
| MITD1 | protein transport | 2q11.2 |
| MITF | positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; protein complex assembly; melanocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; multicellular organismal development | 3p14.2-p14.1 |
| MIXL1 | digestive tract development; multicellular organismal development; endoderm formation; cell migration involved in gastrulation; cell differentiation; heart development | 1q42.12 |
| MKI67 | DNA metabolic process; cell cycle; meiosis; cell proliferation; organ regeneration; cellular response to heat | 10q26.2 |
| MKI67IPP1 | - | 10p11.23 |
| MKI67IPP3 | - | 12p13 |
| MKI67IPP4 | - | 15q24.2 |
| MKI67IPP5 | - | 15q26.1 |
| MKI67IPP6 | - | 19q13.41 |
| MKKS | heart looping; leptin-mediated signaling pathway; negative regulation of appetite; melanosome transport; social behavior; nonmotile primary cilium assembly; protein folding; spermatid development; determination of left/right symmetry; heart development; sensory perception of smell; cerebral cortex development; hippocampus development; striatum development; gonad development; flagellum assembly; response to stimulus; intracellular transport; convergent extension involved in gastrulation; cilium morphogenesis; regulation of cilium beat frequency involved in ciliary motility; pigment granule aggregation in cell center; detection of mechanical stimulus involved in sensory perception of sound; brain morphogenesis; photoreceptor cell maintenance; fat cell differentiation; cilium assembly | 20p12 |
| MKL1 | positive regulation of transcription from RNA polymerase II promoter; smooth muscle cell differentiation; anti-apoptosis | 22q13 |
| MKL2 | muscle organ development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of striated muscle tissue development; cell differentiation; multicellular organismal development; regulation of transcription, DNA-dependent | 16p13.12 |
| MKLN1 | signal transduction | 7q32 |
| MKNK1 | protein phosphorylation; regulation of translation; intracellular protein kinase cascade; fibroblast growth factor receptor signaling pathway; peptidyl-serine phosphorylation | 1p33 |
| MKNK2 | hemopoiesis; regulation of translation; protein phosphorylation; apoptotic process; cellular response to arsenic-containing substance; cell surface receptor signaling pathway; intracellular protein kinase cascade | 19p13.3 |
| MKRN1 | - | 7q34 |
| MKRN2 | - | 3p25 |
| MKRN2OS | - | 3p25.2 |
| MKRN3 | - | 15q11-q13 |
| MKRN4P | - | Xp21.1 |
| MKRN5P | - | Xq13 |
| MKRN7P | - | 20q13.12 |
| MKRN9P | - | 12q21.32 |
| MKS1 | cell projection organization; cilium assembly; cilium morphogenesis; branching morphogenesis of a tube | 17q22 |
| MKX | muscle organ development; multicellular organismal development | 10p12.1 |
| MKX-AS1 | - | 10p12.1 |
| MLANA | - | 9p24.1 |
| MLC1 | transport; ion transport; protein transport; vesicle-mediated transport; positive regulation of intracellular transport; protein oligomerization; cellular response to cholesterol; caveolin-mediated endocytosis | 22q13.33 |
| MLEC | protein folding; carbohydrate metabolic process; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine | 12q24.31 |
| MLF1 | transcription, DNA-dependent; cell differentiation; multicellular organismal development; cell cycle arrest; cell cycle; myeloid progenitor cell differentiation | 3q25.1 |
| MLF2 | defense response | 12p13 |
| MLH1 | resolution of meiotic recombination intermediates; cellular response to organic cyclic compound; spindle midzone assembly involved in meiosis; oogenesis; negative regulation of mitotic recombination; isotype switching; meiotic metaphase I plate congression; response to drug; somatic hypermutation of immunoglobulin genes; DNA damage response, signal transduction resulting in induction of apoptosis; nuclear-transcribed mRNA poly(A) tail shortening; pachytene; response to toxin; response to hypoxia; ATP catabolic process; mismatch repair; double-strand break repair via nonhomologous end joining; cell cycle; male meiosis chromosome segregation; reciprocal meiotic recombination; spermatogenesis | 3p21.3 |
| MLH3 | protein localization; ATP catabolic process; mismatch repair; synaptonemal complex assembly; reciprocal meiotic recombination; male meiosis; female meiosis I | 14q24.3 |
| MLIP | - | 6p12.1 |
| MLIP-IT1 | - | - |
| MLK7-AS1 | - | 2q31.1 |
| MLKL | - | 16q23.1 |
| MLLT1 | negative regulation of protein kinase activity; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 19p13.3 |
| MLLT10 | positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 10p12 |
| MLLT11 | positive regulation of release of cytochrome c from mitochondria; positive regulation of mitochondrial depolarization; positive regulation of transcription, DNA-dependent; positive regulation of apoptotic process | 1q21 |
| MLLT3 | anterior/posterior pattern specification; segment specification; regulation of transcription, DNA-dependent | 9p22 |
| MLLT4 | cell adhesion; signal transduction; cell-cell signaling; cell junction assembly; adherens junction organization; cell-cell junction organization | 6q27 |
| MLLT4-AS1 | - | 6q27 |
| MLLT6 | regulation of transcription, DNA-dependent | 17q21 |
| MLN | G-protein coupled receptor signaling pathway; cell-cell signaling | 6p21.3 |
| MLNR | G-protein coupled receptor signaling pathway; digestion | 13q14-q21 |
| MLPH | intracellular protein transport | 2q37.3 |
| MLST8 | positive regulation of actin filament polymerization; positive regulation of TOR signaling cascade; positive regulation of peptidyl-tyrosine phosphorylation; epidermal growth factor receptor signaling pathway; insulin receptor signaling pathway; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; regulation of actin cytoskeleton organization; regulation of Rac GTPase activity; fibroblast growth factor receptor signaling pathway; T cell costimulation | 16p13.3 |
| MLX | negative regulation of transcription, DNA-dependent; small molecule metabolic process; positive regulation of cellular metabolic process; energy reserve metabolic process; regulation of transcription, DNA-dependent; nucleocytoplasmic transport | 17q21.1 |
| MLXIP | regulation of transcription, DNA-dependent | 12q24.31 |
| MLXIPL | positive regulation of transcription from RNA polymerase II promoter; glucose homeostasis; positive regulation of lipid biosynthetic process; fatty acid homeostasis; anatomical structure morphogenesis; negative regulation of transcription from RNA polymerase II promoter; energy reserve metabolic process; regulation of transcription, DNA-dependent; intracellular protein kinase cascade; positive regulation of cell proliferation; positive regulation of transcription, DNA-dependent; triglyceride homeostasis; positive regulation of cellular metabolic process; small molecule metabolic process; negative regulation of cell cycle arrest; regulation of energy homeostasis; negative regulation of oxidative phosphorylation; regulation of fatty acid biosynthetic process; negative regulation of peptidyl-serine phosphorylation; glucose mediated signaling pathway; negative regulation of transcription, DNA-dependent; positive regulation of glycolysis; positive regulation of fatty acid biosynthetic process | 7q11.23 |
| MLYCD | acetyl-CoA biosynthetic process; fatty acid biosynthetic process; regulation of fatty acid beta-oxidation | 16q24 |
| MMAA | - | 4q31.21 |
| MMAB | cobalamin biosynthetic process | 12q24 |
| MMACHC | - | 1p34.1 |
| MMADHC | - | 2q23.2 |
| MMD | cytolysis | 17q |
| MMD2 | - | 7p22.1 |
| MME | proteolysis; replicative senescence; cellular response to UV-B; cellular response to UV-A; cellular response to cytokine stimulus; beta-amyloid metabolic process; creatinine metabolic process; sensory perception of pain; peptide metabolic process; kidney development | 3q25.2 |
| MMEL1 | proteolysis | 1p36 |
| MMGT1 | magnesium ion transport; transport | Xq26.3 |
| MMP1 | interspecies interaction between organisms; leukocyte migration; proteolysis; blood coagulation; metabolic process; collagen catabolic process | 11q22.3 |
| MMP10 | collagen catabolic process; proteolysis; metabolic process | 11q22.3 |
| MMP11 | proteolysis; multicellular organismal development; collagen catabolic process | 22q11.23 |
| MMP12 | proteolysis; metabolic process; wound healing, spreading of epidermal cells; positive regulation of epithelial cell proliferation involved in wound healing | 11q22.3 |
| MMP13 | bone mineralization; response to hypoxia; proteolysis; metabolic process; response to mechanical stimulus; collagen catabolic process; receptor internalization; embryonic hindlimb morphogenesis; peptide catabolic process; response to estrogen stimulus; cartilage development | 11q22.3 |
| MMP14 | response to mechanical stimulus; proteolysis; response to oxidative stress; metabolic process; cell migration; ossification; angiogenesis; ovarian follicle development; response to hypoxia; endothelial cell proliferation; response to organic cyclic compound; lung development; zymogen activation; astrocyte cell migration; response to estrogen stimulus; response to hormone stimulus; branching morphogenesis of a tube; tissue remodeling; negative regulation of focal adhesion assembly | 14q11-q12 |
| MMP15 | response to estradiol stimulus; positive regulation of catalytic activity; metabolic process; proteolysis; protein modification process | 16q13 |
| MMP16 | proteolysis; metabolic process; collagen catabolic process; positive regulation of catalytic activity | 8q21.3 |
| MMP17 | proteolysis; metabolic process; positive regulation of catalytic activity | 12q24.3 |
| MMP19 | ovarian follicle development; angiogenesis; ovulation from ovarian follicle; luteolysis; multicellular organismal development; response to cAMP; collagen catabolic process; cell differentiation; response to hormone stimulus; proteolysis; metabolic process | 12q14 |
| MMP2 | bone trabecula formation; cellular response to amino acid stimulus; face morphogenesis; collagen catabolic process; metabolic process; proteolysis; intramembranous ossification; blood vessel maturation; response to hypoxia; angiogenesis | 16q13-q21 |
| MMP20 | proteolysis; metabolic process; regulation of enamel mineralization | 11q22.3 |
| MMP24 | positive regulation of catalytic activity; proteolysis; metabolic process | 20q11.2 |
| MMP24-AS1 | - | 20q11.22 |
| MMP25 | proteolysis; metabolic process; inflammatory response | 16p13.3 |
| MMP26 | proteolysis; collagen catabolic process | 11p15 |
| MMP27 | proteolysis; metabolic process; collagen catabolic process | 11q24 |
| MMP28 | metabolic process; proteolysis | 17q21.1 |
| MMP3 | collagen catabolic process; proteolysis; response to estradiol stimulus; female pregnancy; response to hypoxia; response to lipopolysaccharide; response to tumor necrosis factor; wound healing; response to interleukin-1; cellular response to amino acid stimulus; cellular response to cell-matrix adhesion; metabolic process | 11q22.3 |
| MMP7 | proteolysis; metabolic process; collagen catabolic process; antibacterial peptide secretion; regulation of cell proliferation; response to drug; defense response to Gram-negative bacterium; defense response to Gram-positive bacterium | 11q21-q22 |
| MMP8 | proteolysis; ossification; metabolic process; collagen catabolic process | 11q22.3 |
| MMP9 | cellular response to interleukin-1; positive regulation of angiogenesis; tissue remodeling; positive regulation of keratinocyte migration; response to hyperoxia; positive regulation of synaptic plasticity; anatomical structure regression; cell growth; response to ethanol; positive regulation of apoptotic process; response to drug; response to nicotine; response to tumor necrosis factor; response to retinoic acid; response to lipopolysaccharide; response to estradiol stimulus; cellular response to low-density lipoprotein particle stimulus; cellular response to cell-matrix adhesion; collagen catabolic process; macrophage differentiation; extracellular matrix organization; transformation of host cell by virus; response to radiation; response to mechanical stimulus; response to heat; skeletal system development; ossification; response to hypoxia; proteolysis; response to oxidative stress; response to nutrient; metabolic process | 20q11.2-q13.1 |
| MMRN1 | platelet activation; blood coagulation; platelet degranulation; cell adhesion | 4q22 |
| MMRN2 | - | 10q23.2 |
| MMS19 | nucleotide-excision repair; transcription, DNA-dependent; chromosome segregation; two-component signal transduction system (phosphorelay); response to hormone stimulus; positive regulation of transcription, DNA-dependent | 10q24-q25 |
| MMS22L | double-strand break repair via homologous recombination; DNA repair; replication fork processing | 6q16.1 |
| MN1 | intramembranous ossification | 22q12.1 |
| MNAT1 | mRNA capping; response to calcium ion; protein complex assembly; protein phosphorylation; adult heart development; cell proliferation; gene expression; viral reproduction; ventricular system development; negative regulation of apoptotic process; multicellular organismal metabolic process; positive regulation of transcription from RNA polymerase II promoter; positive regulation of smooth muscle cell proliferation; positive regulation of viral transcription; regulation of catalytic activity; G1/S transition of mitotic cell cycle; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; termination of RNA polymerase I transcription; transcription elongation from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; regulation of transcription from RNA polymerase II promoter; nucleotide-excision repair; transcription-coupled nucleotid | 14q23 |
| MND1 | meiosis; DNA recombination | 4q31.3 |
| MNDA | regulation of transcription, DNA-dependent; cellular defense response; response to DNA damage stimulus; negative regulation of B cell proliferation; positive regulation of apoptotic process; B cell receptor signaling pathway | 1q22 |
| MNS1 | meiosis | 15q21.3 |
| MNT | regulation of cell cycle; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; multicellular organismal development; cell aging; negative regulation of cell proliferation; regulation of apoptotic process | 17p13.3 |
| MNX1 | neuron migration; endocrine pancreas development; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; humoral immune response; motor axon guidance; anatomical structure morphogenesis; post-embryonic development; spinal cord motor neuron cell fate specification; nerve development; dorsal/ventral neural tube patterning; central nervous system neuron differentiation; cell morphogenesis involved in neuron differentiation; neuron projection morphogenesis; diaphragm development | 7q36 |
| MNX1-AS1 | - | 7q36.3 |
| MOAP1 | activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic nuclear change; cellular component disassembly involved in apoptosis | 14q32 |
| MOB1A | hippo signaling cascade | 2p13.1 |
| MOB1AP1 | - | - |
| MOB1AP2 | - | - |
| MOB1B | hippo signaling cascade; positive regulation of phosphorylation; protein autophosphorylation | 4q13.3 |
| MOB2 | - | 11p15.5 |
| MOB3A | - | 19p13.3 |
| MOB3B | - | 9p21.2 |
| MOB3C | - | 1p33 |
| MOB4 | transport | 2q33.1 |
| MOBP | nervous system development | 3p22.1 |
| MOCOS | small molecule metabolic process; molybdopterin cofactor metabolic process; molybdopterin cofactor biosynthetic process; Mo-molybdopterin cofactor biosynthetic process; water-soluble vitamin metabolic process; vitamin metabolic process | 18q12 |
| MOCS1 | vitamin metabolic process; water-soluble vitamin metabolic process; Mo-molybdopterin cofactor biosynthetic process; molybdopterin cofactor biosynthetic process; small molecule metabolic process | 6p21.3 |
| MOCS1P1 | - | 16q12.1 |
| MOCS2 | molybdopterin cofactor biosynthetic process; small molecule metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; Mo-molybdopterin cofactor biosynthetic process | 5q11 |
| MOCS3 | tRNA wobble uridine modification; small molecule metabolic process; tRNA thio-modification; molybdopterin cofactor biosynthetic process; enzyme active site formation via L-cysteine persulfide; tRNA processing; Mo-molybdopterin cofactor biosynthetic process; water-soluble vitamin metabolic process; vitamin metabolic process | 20q13.13 |
| MOG | cell adhesion; central nervous system development; positive regulation of MyD88-dependent toll-like receptor signaling pathway | 6p22.1 |
| MOGAT1 | lipid biosynthetic process; diacylglycerol biosynthetic process; glycerol metabolic process | 2q36.1 |
| MOGAT2 | intestinal absorption; triglyceride biosynthetic process; diacylglycerol biosynthetic process; glycerol metabolic process; lipid biosynthetic process | 11q13.5 |
| MOGAT3 | lipid biosynthetic process; glycerol metabolic process | 7q22.1 |
| MOGS | protein folding; protein N-linked glycosylation; oligosaccharide metabolic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 2p13.1 |
| MOK | signal transduction; protein phosphorylation | 14q32 |
| MON1A | - | 3p21.31 |
| MON1B | - | 16q23.1 |
| MON2 | protein transport; Golgi to endosome transport | 12q14.1 |
| MOP-1 | - | 4q21.22 |
| MORC1 | multicellular organismal development; spermatogenesis; cell differentiation | 3q13 |
| MORC2 | - | 22q12.2 |
| MORC2-AS1 | - | 22q12.2 |
| MORC3 | cell aging; protein phosphorylation; maintenance of protein location in nucleus; protein stabilization; negative regulation of fibroblast proliferation; peptidyl-serine phosphorylation; post-embryonic development | 21q22.13 |
| MORC4 | - | Xq22.3 |
| MORF4 | - | 4q34.1 |
| MORF4L1 | histone H2A acetylation; histone H4 acetylation; regulation of growth; histone deacetylation; chromatin modification; cell proliferation; regulation of transcription, DNA-dependent; DNA recombination; DNA repair; double-strand break repair via homologous recombination | 15q24 |
| MORF4L1P1 | - | 1q41 |
| MORF4L1P7 | - | 1q25.2 |
| MORF4L2 | regulation of cell growth; DNA repair; regulation of transcription, DNA-dependent; chromatin modification; positive regulation of transcription from RNA polymerase II promoter; positive regulation of striated muscle cell differentiation | Xq22 |
| MORF4L2-AS1 | - | Xq22.2 |
| MORN1 | - | 1p36.33-p36.32 |
| MORN2 | - | 2p22.1 |
| MORN3 | - | 12q24.31 |
| MORN4 | - | 10q24.2 |
| MORN5 | - | 9q33.2 |
| MOSPD1 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter | Xq26.3 |
| MOSPD2 | - | Xp22.2 |
| MOSPD3 | heart development | 7q22 |
| MOV10 | regulation of transcription, DNA-dependent; gene silencing by RNA; mRNA cleavage involved in gene silencing by miRNA | 1p13.2 |
| MOV10L1 | multicellular organismal development; spermatogenesis; germ cell development | 22q13.33 |
| MOXD1 | catecholamine metabolic process | 6q23.2 |
| MOXD2P | catecholamine metabolic process | 7q34 |
| MPC1 | - | 6q27 |
| MPC2 | - | 1q24 |
| MPDU1 | oligosaccharide biosynthetic process; dolichol-linked oligosaccharide biosynthetic process; protein folding; transport | 17p13.1-p12 |
| MPDZ | interspecies interaction between organisms | 9p23 |
| MPEG1 | - | 11q12.1 |
| MPG | depurination; DNA dealkylation involved in DNA repair; base-excision repair, AP site formation; base-excision repair; DNA repair | 16p13.3 |
| MPHOSPH10 | RNA splicing, via transesterification reactions; RNA splicing; negative regulation of phosphatase activity; RNA processing; rRNA processing | 2p13.3 |
| MPHOSPH6 | maturation of 5.8S rRNA; M phase of mitotic cell cycle | 16q23.3 |
| MPHOSPH8 | cell cycle; regulation of DNA methylation; negative regulation of transcription, DNA-dependent | 13q12.11 |
| MPHOSPH9 | M phase of mitotic cell cycle | 12q24.31 |
| MPI | carbohydrate metabolic process; dolichol-linked oligosaccharide biosynthetic process; metabolic process; GDP-mannose biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 15q22-qter |
| MPL | cell proliferation; cell surface receptor signaling pathway; blood coagulation; platelet activation | 1p34 |
| MPLKIP | mitosis; cell cycle; cell division | 7p14.1 |
| MPND | proteolysis | 19p13.3 |
| MPO | hydrogen peroxide catabolic process; response to yeast; oxidation-reduction process; defense response to fungus; negative regulation of growth of symbiont in host; low-density lipoprotein particle remodeling; response to lipopolysaccharide; response to food; removal of superoxide radicals; aging; response to oxidative stress; defense response; anti-apoptosis; respiratory burst involved in defense response; hypochlorous acid biosynthetic process; response to mechanical stimulus | 17q23.1 |
| MPP1 | signal transduction; regulation of neutrophil chemotaxis | Xq28 |
| MPP2 | signal transduction | 17q12-q21 |
| MPP3 | signal transduction | 17q21.31 |
| MPP4 | - | 2q33.2 |
| MPP5 | establishment of protein localization in plasma membrane; tight junction assembly; cell-cell junction organization; protein localization to myelin sheath abaxonal region; cell junction assembly; myelin assembly; peripheral nervous system myelin maintenance | 14q23.3 |
| MPP6 | protein complex assembly | 7p15 |
| MPP7 | positive regulation of protein complex assembly; positive regulation of signal transduction; establishment of cell polarity; tight junction assembly; protein localization to adherens junction | 10p12.1 |
| MPPE1 | vesicle-mediated transport; ER to Golgi vesicle-mediated transport; GPI anchor biosynthetic process | 18p11.21 |
| MPPED1 | - | 22q13.31 |
| MPPED2 | nervous system development | 11p13 |
| MPRIP | - | 17p11.2 |
| MPRIPP1 | - | - |
| MPST | response to toxin; cyanate catabolic process | 22q13.1 |
| MPV17 | regulation of reactive oxygen species metabolic process; inner ear development; homeostatic process; cellular response to reactive oxygen species; glomerular basement membrane development; sensory perception of sound; mitochondrial genome maintenance | 2p23.3 |
| MPV17L | - | 16p13.11 |
| MPV17L2 | - | 19p13.11 |
| MPZ | synaptic transmission | 1q23.3 |
| MPZL1 | transmembrane receptor protein tyrosine kinase signaling pathway; cell-cell signaling | 1q24.2 |
| MPZL2 | homophilic cell adhesion; anatomical structure morphogenesis; T cell differentiation in thymus | 11q24 |
| MPZL3 | cell adhesion | 11q23.3 |
| MR1 | immune response; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation | 1q25.3 |
| MR1P1 | - | 1q25.3 |
| MRAP | positive regulation of cAMP biosynthetic process; protein localization at cell surface; brown fat cell differentiation | 21q22.1 |
| MRAP2 | positive regulation of cAMP biosynthetic process; protein localization at cell surface | 6q14.2 |
| MRAS | signal transduction; actin cytoskeleton organization; muscle organ development; multicellular organismal development; Ras protein signal transduction; GTP catabolic process | 3q22.3 |
| MRC1 | receptor-mediated endocytosis | 10p12.33 |
| MRC2 | endocytosis | 17q23.2 |
| MRE11A | positive regulation of kinase activity; cell cycle checkpoint; nucleic acid phosphodiester bond hydrolysis; negative regulation of DNA endoreduplication; DNA duplex unwinding; positive regulation of protein autophosphorylation; cell proliferation; heart development; reciprocal meiotic recombination; synapsis; meiosis; sister chromatid cohesion; telomere maintenance via telomerase; DNA recombination; double-strand break repair via nonhomologous end joining; double-strand break repair; DNA repair; double-strand break repair via homologous recombination; regulation of mitotic recombination | 11q21 |
| MRE11B | - | 3q25 |
| MREG | melanocyte differentiation; anagen; developmental pigmentation | 2q35 |
| MRFAP1 | - | 4p16.1 |
| MRFAP1L1 | - | 4p16.1 |
| MRGBP | - | 20q13.33 |
| MRGPRF | - | 11q13.3 |
| MRGPRX3 | - | 11p15.1 |
| MRGPRX4 | - | 11p15.1 |
| MRI1 | cellular biosynthetic process; small molecule metabolic process; cellular nitrogen compound metabolic process; L-methionine salvage from methylthioadenosine; methionine biosynthetic process; cellular amino acid biosynthetic process; polyamine metabolic process; sulfur amino acid metabolic process | 19p13.2 |
| MRM1 | RNA processing | 17q12 |
| MRO | - | 18q21 |
| MROH1 | - | 8q24.3 |
| MROH2A | - | 2q37.1 |
| MROH2B | - | 5p13.1 |
| MROH3P | - | 1q32.1 |
| MROH5 | - | 8q24.3 |
| MROH6 | - | 8q24.3 |
| MROH7 | - | 1p32.3 |
| MROH8 | - | 20q11.22 |
| MROH9 | - | 1q24.3 |
| MRPL1 | translation | 4q21.1 |
| MRPL10 | ribosome biogenesis; translation | 17q21.32 |
| MRPL11 | translation | 11q13.3 |
| MRPL12 | transcription from mitochondrial promoter; positive regulation of transcription, DNA-dependent; translation | 17q25 |
| MRPL13 | translation | 8q22.1-q22.3 |
| MRPL14 | translation | 6p21.3 |
| MRPL15 | translation | 8q11.2-q13 |
| MRPL15P1 | - | 15q26.1 |
| MRPL16 | translation | 11q12.1 |
| MRPL17 | translation | 11p15.5-p15.4 |
| MRPL18 | translation; transport; rRNA import into mitochondrion | 6q25.3 |
| MRPL19 | translation | 2p11.1-q11.2 |
| MRPL2 | translation | 6p21.3 |
| MRPL20 | translation | 1p36.3-p36.2 |
| MRPL20P1 | - | 21q22.2 |
| MRPL21 | translation | 11q13.3 |
| MRPL22 | translation | 5q33.2 |
| MRPL23 | translation | 11p15.5 |
| MRPL23-AS1 | - | 11p15.5 |
| MRPL24 | translation | 1q23.1 |
| MRPL27 | translation | 17q21.3-q22 |
| MRPL28 | translation | 16p13.3 |
| MRPL2P1 | - | 12q21.33 |
| MRPL3 | translation | 3q21-q23 |
| MRPL30 | translation | 2q11.2 |
| MRPL30P2 | - | 12p11.2 |
| MRPL32 | translation | 7p14 |
| MRPL32P1 | - | Xp11.23 |
| MRPL33 | translation | 2p21 |
| MRPL34 | translation | 19p13.1 |
| MRPL35 | translation | 2p11.2 |
| MRPL35P2 | - | 10q21.3 |
| MRPL35P3 | - | 10q22.2 |
| MRPL36 | translation | 5p15.3 |
| MRPL37 | translation | 1p32.1 |
| MRPL37P1 | - | 18q21.31 |
| MRPL38 | - | 17q25.3 |
| MRPL39 | - | 21q21.3 |
| MRPL4 | translation | 19p13.2 |
| MRPL40 | anatomical structure morphogenesis | 22q11.2 |
| MRPL41 | cell cycle; translation; apoptotic process | 9q34.3 |
| MRPL42 | translation | 12q22 |
| MRPL42P1 | - | 4q26 |
| MRPL42P5 | - | 15q13.3 |
| MRPL43 | translation | 10q24.31 |
| MRPL44 | RNA processing | 2q36.1 |
| MRPL45 | intracellular protein transport; translation | 17q21.2 |
| MRPL45P1 | - | 2p11.2 |
| MRPL45P2 | - | 17q21.32 |
| MRPL46 | - | 15q25.3 |
| MRPL47 | translation | 3q26.33 |
| MRPL48 | translation | 11q13.4 |
| MRPL48P1 | - | 6p24.3 |
| MRPL49 | translation | 11q13 |
| MRPL49P1 | - | 5q12.1 |
| MRPL50 | - | 9q31.1 |
| MRPL50P1 | - | 2p22.3 |
| MRPL50P4 | - | 10q23.1 |
| MRPL51 | translation | 12p13.3-p13.1 |
| MRPL51P2 | - | 21q22.3 |
| MRPL52 | translation | 14q11.2 |
| MRPL53 | - | 2p13.1 |
| MRPL53P1 | - | 1p13.2 |
| MRPL54 | - | 19p13.3 |
| MRPL55 | translation | 1q42.13 |
| MRPL57 | translation | 13q12.11 |
| MRPL9 | translation | 1q21 |
| MRPS10 | translation | 6p21.1 |
| MRPS11 | translation; DNA damage response, detection of DNA damage | 15q25 |
| MRPS11P1 | - | 20p11.23 |
| MRPS12 | translation | 19q13.1-q13.2 |
| MRPS14 | translation | 1q25.1 |
| MRPS15 | translation | 1p34.3 |
| MRPS15P1 | - | 15q22 |
| MRPS16 | translation | 10q22.1 |
| MRPS16P2 | - | 20q13.32 |
| MRPS17 | translation | 7p11 |
| MRPS17P1 | - | 1p34 |
| MRPS17P7 | - | 18q21.31 |
| MRPS18A | translation | 6p21.3 |
| MRPS18B | translation | 6p21.3 |
| MRPS18C | translation | 4q21.23 |
| MRPS18CP6 | - | 22q13.31 |
| MRPS2 | translation | 9q34 |
| MRPS21 | translation | 1q21 |
| MRPS21P2 | - | 1q22 |
| MRPS21P6 | - | 10q26 |
| MRPS22 | - | 3q23 |
| MRPS23 | translation | 17q22-q23 |
| MRPS24 | translation | 7p14 |
| MRPS25 | translation | 3p25 |
| MRPS26 | DNA damage response, detection of DNA damage; peptide biosynthetic process | 20p13 |
| MRPS27 | - | 5q13.2 |
| MRPS28 | - | 8q21.1-q21.2 |
| MRPS30 | translation; apoptotic process | 5q11 |
| MRPS31 | - | 13q14.11 |
| MRPS31P2 | - | 13q12.11 |
| MRPS31P5 | - | 13q |
| MRPS33 | translation | 7q34 |
| MRPS33P3 | - | 4q26 |
| MRPS33P4 | - | 20q13.13 |
| MRPS34 | - | 16p13.3 |
| MRPS35 | peptide biosynthetic process; DNA damage response, detection of DNA damage | 12p11 |
| MRPS35P1 | - | 3p25.3 |
| MRPS36 | translation | 5q13.2 |
| MRPS36P5 | - | 12q12 |
| MRPS5 | translation | 2p11.2-q11.2 |
| MRPS6 | translation | 21q22.11 |
| MRPS7 | translation | 17q25 |
| MRPS7P2 | - | 12p13.1 |
| MRPS9 | translation; DNA damage response, detection of DNA damage; peptide biosynthetic process | 2q12.1 |
| MRRF | translation; ribosome disassembly | 9q33.2 |
| MRRFP1 | translation | Xq25 |
| MRS2 | ion transport | 6p22.3-p22.1 |
| MRS2P2 | - | 12q21.1 |
| MRTO4 | ribosome biogenesis | 1p36.13 |
| MRVI1 | blood coagulation | 11p15 |
| MRVI1-AS1 | - | 11p15.4 |
| MS4A1 | immune response; B cell activation | 11q12 |
| MS4A12 | - | 11q12 |
| MS4A14 | - | 11q12.2 |
| MS4A15 | - | 11q12.2 |
| MS4A18 | - | 11q12.2 |
| MS4A2 | inflammatory response; calcium ion transmembrane transport; regulation of release of sequestered calcium ion into cytosol; cytokine secretion; positive regulation of mast cell degranulation; cell proliferation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; activation of phospholipase C activity; G-protein coupled receptor signaling pathway; humoral immune response | 11q12-q13 |
| MS4A3 | - | 11q12.1 |
| MS4A4A | - | 11q12 |
| MS4A4E | - | 11q12.2 |
| MS4A5 | - | 11q12 |
| MS4A6A | - | 11q12.1 |
| MS4A6E | - | 11q12.2 |
| MS4A7 | - | 11q12 |
| MS4A8 | - | 11q12.2 |
| MSANTD1 | - | 4p16.3 |
| MSANTD2 | - | 11q24.2 |
| MSANTD3 | - | 9q31.1 |
| MSANTD4 | - | 11q22 |
| MSC | branchiomeric skeletal muscle development; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; palate development; diaphragm development | 8q21 |
| MSC-AS1 | - | 8q13.3 |
| MSH2 | double-strand break repair; response to UV-B; response to amino acid stimulus; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; response to drug; intra-S DNA damage checkpoint; B cell differentiation; B cell mediated immunity; somatic recombination of immunoglobulin gene segments; somatic hypermutation of immunoglobulin genes; response to organic cyclic compound; negative regulation of neuron apoptosis; response to X-ray; male gonad development; determination of adult lifespan; spermatogenesis; germ cell development; cell cycle arrest; meiotic gene conversion; postreplication repair; mismatch repair; maintenance of DNA repeat elements; negative regulation of reciprocal meiotic recombination; isotype switching; negative regulation of DNA recombination; positive regulation of helicase activity; meiotic mismatch repair; in utero embryonic development; oxidative phosphorylation; ATP catabolic process; DNA repair | 2p21 |
| MSH3 | somatic recombination of immunoglobulin gene segments; positive regulation of helicase activity; negative regulation of DNA recombination; maintenance of DNA repeat elements; reciprocal meiotic recombination; mismatch repair; DNA repair; meiotic mismatch repair | 5q11-q12 |
| MSH4 | homologous chromosome segregation; chiasma assembly; meiotic mismatch repair; ovarian follicle development; meiosis; reciprocal meiotic recombination; spermatogenesis; female gamete generation | 1p31 |
| MSH5 | meiotic mismatch repair; chiasma assembly; homologous chromosome segregation; meiotic prophase II; reciprocal meiotic recombination; meiosis; mismatch repair | 6p21.3 |
| MSH6 | mismatch repair; reciprocal meiotic recombination; determination of adult lifespan; induction of apoptosis by intracellular signals; DNA damage response, signal transduction resulting in induction of apoptosis; response to UV; somatic hypermutation of immunoglobulin genes; DNA repair; somatic recombination of immunoglobulin gene segments; maintenance of DNA repeat elements; ATP catabolic process; meiotic mismatch repair; positive regulation of helicase activity; negative regulation of DNA recombination; isotype switching | 2p16 |
| MSI1 | epithelial cell differentiation; response to hormone stimulus; nervous system development | 12q24 |
| MSI2 | stem cell development | 17q22 |
| MSL1 | chromatin modification; histone H4-K16 acetylation | 17q21.1 |
| MSL2 | histone H4-K16 acetylation | 3q22.3 |
| MSL3 | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; chromatin modification; histone H4-K16 acetylation | Xp22.3 |
| MSL3P1 | chromatin modification; regulation of transcription, DNA-dependent | 2q37.1 |
| MSLN | cell adhesion | 16p13.3 |
| MSLNL | cell adhesion | 16p13.3 |
| MSMB | - | 10q11.2 |
| MSMO1 | fatty acid metabolic process; fatty acid biosynthetic process; small molecule metabolic process; steroid metabolic process; cholesterol biosynthetic process | 4q32-q34 |
| MSMP | - | 9p13.3 |
| MSN | membrane to membrane docking; regulation of lymphocyte migration; leukocyte migration; cellular component movement; leukocyte cell-cell adhesion | Xq11.1 |
| MSNP1 | - | 5p14.1 |
| MSR1 | receptor-mediated endocytosis; positive regulation of macrophage derived foam cell differentiation; positive regulation of cholesterol storage; cholesterol transport; plasma lipoprotein particle clearance; response to chemical stimulus; lipoprotein transport | 8p22 |
| MSRA | protein modification process; methionine metabolic process; response to oxidative stress; aging; protein metabolic process | 8p23.1 |
| MSRB1 | protein repair | 16p13.3 |
| MSRB2 | regulation of transcription, DNA-dependent; protein repair | 10p12 |
| MSRB3 | protein repair | 12q14.3 |
| MSS51 | social behavior | 10q22.2 |
| MST1 | - | 3p21 |
| MST152 | - | 6q25.1 |
| MST1R | positive regulation of cell proliferation; positive regulation of protein kinase B signaling cascade; innate immune response; positive regulation of MAP kinase activity; response to virus; single fertilization; multicellular organismal development; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; defense response; cellular component movement | 3p21.3 |
| MSTN | ovulation cycle process; transforming growth factor beta receptor signaling pathway; muscle organ development; response to heat; response to gravity; skeletal muscle atrophy; negative regulation of muscle hypertrophy; response to muscle activity; response to glucocorticoid stimulus; negative regulation of skeletal muscle tissue growth; positive regulation of transcription, DNA-dependent; response to ethanol; response to estrogen stimulus; skeletal muscle tissue regeneration; growth; response to testosterone stimulus; response to electrical stimulus | 2q32.2 |
| MSTO1 | mitochondrion organization; mitochondrion distribution; protein polymerization | 1q22 |
| MSX1 | epithelial to mesenchymal transition involved in endocardial cushion formation; multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; cell morphogenesis; in utero embryonic development; epithelial to mesenchymal transition; heart morphogenesis; BMP signaling pathway involved in heart development; muscle organ development; negative regulation of cell proliferation; anterior/posterior pattern specification; mesenchymal cell proliferation; signal transduction involved in regulation of gene expression; apoptotic nuclear change; negative regulation of cell growth; positive regulation of BMP signaling pathway; forebrain development; midbrain development; protein localization to nucleus; embryonic forelimb morphogenesis; embryonic hindlimb morphogenesis; embryonic nail plate morphogenesis; middle ear morphogenesis; odontogenesis of dentin-containing tooth; regulation of odontogenesis; positive regulation of apoptotic process; negative regulation of apoptotic proc | 4p16.2 |
| MSX2 | cellular response to estradiol stimulus; cartilage development; negative regulation of transcription regulatory region DNA binding; cellular response to growth factor stimulus; enamel mineralization; BMP signaling pathway involved in heart development; mammary gland epithelium development; branching involved in mammary gland duct morphogenesis; frontal suture morphogenesis; cranial suture morphogenesis; bone morphogenesis; bone trabecula formation; positive regulation of catagen; negative regulation of transcription from RNA polymerase II promoter; stem cell differentiation; negative regulation of transcription, DNA-dependent; positive regulation of osteoblast differentiation; negative regulation of keratinocyte differentiation; negative regulation of fat cell differentiation; negative regulation of apoptotic process; positive regulation of apoptotic process; anagen; odontogenesis; wound healing; embryonic forelimb morphogenesis; epithelial to mesenchymal transition involved in endocardial cushion formation; | 5q35.2 |
| MSX2P1 | - | 17q22 |
| MT1A | cellular response to cadmium ion; cellular response to zinc ion; negative regulation of growth | 16q13 |
| MT1B | cellular response to zinc ion; negative regulation of growth | 16q13 |
| MT1DP | - | 16q13 |
| MT1E | cellular response to cadmium ion; negative regulation of growth; cellular response to zinc ion | 16q13 |
| MT1F | negative regulation of growth; cellular response to cadmium ion | 16q13 |
| MT1G | monocyte differentiation; cellular response to zinc ion; cellular response to copper ion; cellular response to cadmium ion; negative regulation of growth; monocyte activation; cellular response to vascular endothelial growth factor stimulus | 16q13 |
| MT1H | cellular response to cadmium ion; cellular zinc ion homeostasis; nitric oxide mediated signal transduction; detoxification of copper ion; negative regulation of growth; cellular response to zinc ion | 16q13 |
| MT1HL1 | - | 1q43 |
| MT1IP | - | 16q13 |
| MT1JP | - | 16q13 |
| MT1L | - | 16q13 |
| MT1M | negative regulation of growth | 16q13 |
| MT1X | response to metal ion; cellular response to erythropoietin; negative regulation of growth; cellular response to cadmium ion; cellular response to zinc ion | 16q13 |
| MT2A | cellular response to interleukin-3; cellular response to zinc ion; interferon-gamma-mediated signaling pathway; negative regulation of growth; cellular response to erythropoietin; cellular response to drug; cytokine-mediated signaling pathway; cellular copper ion homeostasis | 16q13 |
| MT2P1 | - | 4q13.2 |
| MT3 | cellular response to drug; negative regulation of transcription, DNA-dependent; protein import into nucleus, translocation; response to hypoxia; positive regulation of protein phosphorylation; energy reserve metabolic process; positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress; astrocyte development; cholesterol catabolic process; zinc ion transport; cellular metal ion homeostasis; cellular zinc ion homeostasis; cell proliferation; negative regulation of autophagy; positive regulation of gene expression; positive regulation of necrotic cell death; positive regulation of cell death; negative regulation of apoptotic process; histone modification; removal of superoxide radicals; negative regulation of cell growth; negative regulation of axon extension; positive regulation of vascular endothelial growth factor receptor signaling pathway; regulation of response to food; activation of protein kinase B activity; leptin-mediated signaling pathway; cellular response to | 16q13 |
| MTA1 | signal transduction | 14q32.3 |
| MTA2 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; chromatin assembly or disassembly | 11q12-q13.1 |
| MTA3 | - | 2p21 |
| MTAP | purine ribonucleoside salvage; nucleobase-containing compound metabolic process; sulfur amino acid metabolic process; nicotinamide riboside catabolic process; nucleoside metabolic process; L-methionine salvage from methylthioadenosine; response to testosterone stimulus; cellular nitrogen compound metabolic process; small molecule metabolic process; polyamine metabolic process | 9p21 |
| MTAPP2 | - | - |
| MTBP | cell cycle; cell cycle arrest; traversing start control point of mitotic cell cycle; negative regulation of cell proliferation | 8q24.12 |
| MTCH1 | positive regulation of apoptotic process; neuronal ion channel clustering; activation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of signal transduction; transport | 6p21.2 |
| MTCH2 | transport | 11p11.2 |
| MTCL1 | - | 18p11.22 |
| MTCO2P1 | - | 20q13.33 |
| MTCO2P3 | - | - |
| MTCO3P1 | - | 6p21.3 |
| MTCP1 | cell proliferation | Xq28 |
| MTCYBP3 | - | - |
| MTCYBP4 | - | - |
| MTDH | negative regulation of transcription from RNA polymerase II promoter; tight junction assembly; positive regulation of protein kinase B signaling cascade; positive regulation of NF-kappaB transcription factor activity; positive regulation of angiogenesis; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of apoptotic process; lipopolysaccharide-mediated signaling pathway; positive regulation of autophagy | 8q22.1 |
| MTERF1 | DNA geometric change; gene expression; termination of mitochondrial transcription; transcription from mitochondrial promoter; regulation of transcription, DNA-dependent; transcription termination, DNA-dependent | 7q21-q22 |
| MTERF2 | transcription, DNA-dependent; regulation of transcription, DNA-dependent | 12q24.1 |
| MTERF3 | negative regulation of transcription, DNA-dependent | 8q22.1 |
| MTERF4 | - | 2q37.3 |
| MTF1 | response to cadmium ion; positive regulation of transcription from RNA polymerase II promoter; response to metal ion; response to oxidative stress; regulation of transcription from RNA polymerase II promoter | 1p33 |
| MTF2 | - | 1p22.1 |
| MTFMT | biosynthetic process | 15q22.31 |
| MTFP1 | apoptotic process; mitochondrial fission | 22q |
| MTFR1 | - | 8q13.1 |
| MTFR1L | - | 1p36.11 |
| MTFR2 | - | 6q23.3 |
| MTG1 | - | 10q26.3 |
| MTG2 | - | 20q13.33 |
| MTHFD1 | small molecule metabolic process; histidine biosynthetic process; purine nucleotide biosynthetic process; one-carbon metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; cellular amino acid biosynthetic process; methionine biosynthetic process; folic acid metabolic process; folic acid-containing compound biosynthetic process | 14q24 |
| MTHFD1L | oxidation-reduction process; tetrahydrofolate metabolic process; formate metabolic process; folic acid-containing compound biosynthetic process; folic acid-containing compound metabolic process; one-carbon metabolic process | 6q25.1 |
| MTHFD1P1 | - | Xp11.21 |
| MTHFD2 | oxidation-reduction process; tetrahydrofolate metabolic process; response to heat; folic acid-containing compound biosynthetic process; one-carbon metabolic process | 2p13.1 |
| MTHFD2L | purine nucleotide biosynthetic process; methionine biosynthetic process; folic acid-containing compound biosynthetic process; oxidation-reduction process; cellular amino acid biosynthetic process; one-carbon metabolic process; histidine biosynthetic process | 4q13.3 |
| MTHFD2P1 | - | 3q11.2 |
| MTHFD2P4 | - | 4q32.2 |
| MTHFD2P6 | - | 5p13.1 |
| MTHFD2P7 | - | 3q26.33 |
| MTHFR | folic acid metabolic process; cellular amino acid metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; blood circulation; methionine biosynthetic process; small molecule metabolic process; homocysteine metabolic process | 1p36.3 |
| MTHFS | formate metabolic process; tetrahydrofolate metabolic process; folic acid-containing compound biosynthetic process | 15q25.1 |
| MTHFSD | folic acid-containing compound biosynthetic process | 16q24.1 |
| MTIF2 | regulation of translational initiation; translation | 2p16.1 |
| MTIF3 | regulation of translational initiation; ribosome disassembly; translation | 13q12.2 |
| MTL5 | cellular metal ion homeostasis; spermatogenesis; response to metal ion; cell differentiation; multicellular organismal development | 11q13.2-q13.3 |
| MTM1 | protein dephosphorylation; endosome to lysosome transport; protein transport; mitochondrion morphogenesis; mitochondrion distribution; phosphatidylinositol dephosphorylation; intermediate filament organization; regulation of vacuole organization | Xq28 |
| MTMR1 | - | Xq28 |
| MTMR10 | - | 15q13.3 |
| MTMR11 | - | 1q12-q21 |
| MTMR12 | - | 5p13.3 |
| MTMR14 | - | 3p26 |
| MTMR2 | positive regulation of early endosome to late endosome transport; negative regulation of receptor internalization; protein dephosphorylation; negative regulation of endocytosis; protein tetramerization; negative regulation of excitatory postsynaptic membrane potential; dendritic spine maintenance; negative regulation of receptor catabolic process | 11q22 |
| MTMR3 | protein dephosphorylation; peptidyl-tyrosine dephosphorylation; phosphatidylinositol dephosphorylation | 22q12.2 |
| MTMR4 | peptidyl-tyrosine dephosphorylation; protein dephosphorylation | 17q22-q23 |
| MTMR6 | peptidyl-tyrosine dephosphorylation; protein dephosphorylation | 13q12 |
| MTMR7 | peptidyl-tyrosine dephosphorylation; protein dephosphorylation | 8p22 |
| MTMR8 | - | Xq11.2 |
| MTMR9 | - | 8p23-p22 |
| MTMR9LP | - | 1p35.1 |
| MTND1P2 | - | - |
| MTND1P9 | - | - |
| MTND2P5 | - | - |
| MTND3P1 | - | - |
| MTND4P12 | - | 5q31.1 |
| MTND4P13 | - | 6q25.2 |
| MTND4P14 | - | 9p24.1 |
| MTND4P2 | - | - |
| MTND4P4 | - | - |
| MTND4P6 | - | - |
| MTND5P10 | - | 5q21.1 |
| MTND5P11 | - | 5q31.1 |
| MTND5P13 | - | - |
| MTND5P14 | - | - |
| MTND5P19 | - | - |
| MTND5P3 | - | - |
| MTND5P6 | - | - |
| MTND5P8 | - | - |
| MTND5P9 | - | - |
| MTNR1A | circadian rhythm; mating behavior; G-protein signaling, coupled to cyclic nucleotide second messenger | 4q35.1 |
| MTNR1B | regulation of insulin secretion; G-protein signaling, coupled to cyclic nucleotide second messenger; synaptic transmission; glucose homeostasis | 11q21-q22 |
| MTO1 | tRNA processing; oxidation-reduction process | 6q13 |
| MTOR | positive regulation of endothelial cell proliferation; positive regulation of lamellipodium assembly; regulation of fatty acid beta-oxidation; TOR signaling cascade; cellular response to nutrient levels; ruffle organization; T cell costimulation; positive regulation of actin filament polymerization; protein catabolic process; peptidyl-threonine phosphorylation; peptidyl-serine phosphorylation; phosphorylation; negative regulation of macroautophagy; cell growth; positive regulation of protein kinase B signaling cascade; negative regulation of autophagy; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; response to nutrient; germ cell development; epidermal growth factor receptor signaling pathway; signal transduction; protein phosphorylation; regulation of carbohydrate metabolic process; regulation of glycogen biosynthetic process; positive regulation of protein phosphorylation; regulation of Rac GTPase activity; positive regulation of stress fiber assembly; regulation of | 1p36.2 |
| MTPAP | mRNA polyadenylation; transcription, DNA-dependent; cell death; histone mRNA catabolic process; mRNA processing | 10p11.23 |
| MTPN | cell growth; positive regulation of NF-kappaB transcription factor activity; striated muscle cell differentiation; positive regulation of cardiac muscle hypertrophy; positive regulation of protein metabolic process; regulation of barbed-end actin filament capping; positive regulation of macromolecule biosynthetic process; regulation of striated muscle tissue development; cerebellar granule cell differentiation; neuron differentiation; skeletal muscle tissue regeneration; positive regulation of cell growth; regulation of translation; catecholamine metabolic process | 7q33 |
| MTPN-LUZP6 | - | 7q33 |
| MTR | cellular nitrogen compound metabolic process; pteridine-containing compound metabolic process; sulfur amino acid metabolic process; protein methylation; xenobiotic metabolic process; nervous system development; cellular amino acid biosynthetic process; methylation; small molecule metabolic process; tetrahydrofolate metabolic process; homocysteine metabolic process | 1q43 |
| MTRF1 | regulation of translational termination | 13q14.1-q14.3 |
| MTRF1L | translational termination | 6q25-q26 |
| MTRNR2L1 | - | 17p11.2 |
| MTRR | methionine metabolic process; oxidation-reduction process; methionine biosynthetic process; cellular amino acid biosynthetic process | 5p15.31 |
| MTSS1 | cell adhesion; epithelial cell proliferation involve in renal tubule morphogenesis; nephron tubule epithelial cell differentiation; glomerulus morphogenesis; cellular response to fluid shear stress; renal tubule morphogenesis; negative regulation of epithelial cell proliferation; filopodium assembly; actin cytoskeleton organization; microspike assembly; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; cellular component movement | 8p22 |
| MTSS1L | filopodium assembly; signal transduction | 16q22.1 |
| MTTP | lipid transport; transport; lipoprotein metabolic process; triglyceride metabolic process; lipid metabolic process; protein lipidation; cholesterol homeostasis; lipoprotein transport; small molecule metabolic process; response to calcium ion | 4q24 |
| MTURN | - | 7p14.3 |
| MTUS1 | - | 8p22 |
| MTUS2 | - | 13q12.3 |
| MTVR2 | - | 17q23 |
| MTX1 | protein targeting to mitochondrion; protein transport | 1q21 |
| MTX1P1 | - | 1q22 |
| MTX2 | protein transport; mitochondrial transport; protein targeting to mitochondrion | 2q31.1 |
| MTX3 | protein targeting to mitochondrion; protein transport | 5q14.1 |
| MUC1 | post-translational protein modification; cellular protein metabolic process; positive regulation of histone H4 acetylation; regulation of transcription from RNA polymerase II promoter in response to stress; anti-apoptosis; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; negative regulation of transcription by competitive promoter binding; O-glycan processing; positive regulation of transcription from RNA polymerase II promoter in response to stress | 1q21 |
| MUC12 | cellular protein metabolic process; regulation of cell growth; O-glycan processing; post-translational protein modification | 7q22 |
| MUC13 | cellular protein metabolic process; post-translational protein modification; O-glycan processing | 3q21.2 |
| MUC15 | cellular protein metabolic process; post-translational protein modification; O-glycan processing | 11p14.3 |
| MUC16 | cellular protein metabolic process; post-translational protein modification; O-glycan processing; cell adhesion | 19p13.2 |
| MUC17 | cellular protein metabolic process; O-glycan processing; post-translational protein modification; cellular homeostasis | 7q22.1 |
| MUC19 | post-translational protein modification; O-glycan processing; cellular protein metabolic process | 12q12 |
| MUC2 | O-glycan processing; post-translational protein modification; cellular protein metabolic process | 11p15.5 |
| MUC20 | cellular protein metabolic process; O-glycan processing; hepatocyte growth factor receptor signaling pathway; protein homooligomerization; post-translational protein modification; activation of MAPK activity | 3q29 |
| MUC21 | O-glycan processing; cellular protein metabolic process; post-translational protein modification | 6p21.32 |
| MUC22 | - | 6p21.33 |
| MUC3A | digestion; O-glycan processing; maintenance of gastrointestinal epithelium; post-translational protein modification; cellular protein metabolic process | 7q22 |
| MUC3B | O-glycan processing; post-translational protein modification; cellular protein metabolic process | 7q22 |
| MUC4 | cellular protein metabolic process; post-translational protein modification; O-glycan processing; cell-matrix adhesion; cell adhesion | 3q29 |
| MUC5AC | cell adhesion; digestion; O-glycan processing; fibril organization; post-translational protein modification; cellular protein metabolic process | 11p15.5 |
| MUC5B | cell adhesion; O-glycan processing; post-translational protein modification; cellular protein metabolic process | 11p15.5 |
| MUC6 | post-translational protein modification; O-glycan processing; maintenance of gastrointestinal epithelium; cellular protein metabolic process | 11p15.5 |
| MUC7 | O-glycan processing; post-translational protein modification; cellular protein metabolic process | 4q13.3 |
| MUC8 | - | 12q24.33 |
| MUCL1 | cellular protein metabolic process; post-translational protein modification; O-glycan processing | 12q |
| MUL1 | positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of cell growth; protein ubiquitination; activation of JUN kinase activity; signal transduction; activation of cysteine-type endopeptidase activity involved in apoptotic process; mitochondrion localization; induction of apoptosis; mitochondrial fission | 1p36.12 |
| MUM1 | chromatin organization; DNA repair | 19p13.3 |
| MUM1L1 | - | Xq22.3 |
| MURC | multicellular organismal development; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; muscle organ development; cell differentiation | 9q31.1 |
| MUS81 | DNA recombination; DNA repair | 11q13 |
| MUSK | protein autophosphorylation; positive regulation of protein geranylgeranylation; positive regulation of neuron apoptosis; cell differentiation; positive regulation of gene expression; regulation of synaptic growth at neuromuscular junction; memory; neuromuscular junction development; multicellular organismal development; transmembrane receptor protein tyrosine kinase signaling pathway; regulation of transcription, DNA-dependent; positive regulation of protein phosphorylation; skeletal muscle acetylcholine-gated channel clustering | 9q31.3-q32 |
| MUSTN1 | tissue regeneration; embryonic limb morphogenesis | 3p21.1 |
| MUT | fatty acid beta-oxidation; post-embryonic development; short-chain fatty acid catabolic process; cellular lipid metabolic process; small molecule metabolic process; homocysteine metabolic process | 6p12.3 |
| MUTYH | DNA repair; base-excision repair; base-excision repair, AP site formation; mismatch repair; depurination | 1p34.1 |
| MVB12A | - | 19p13.11 |
| MVB12B | - | 9q33.3 |
| MVD | response to drug; small molecule metabolic process; isopentenyl diphosphate biosynthetic process, mevalonate pathway; positive regulation of cell proliferation; cholesterol biosynthetic process; isoprenoid biosynthetic process | 16q24.3 |
| MVK | cholesterol biosynthetic process; isoprenoid biosynthetic process; small molecule metabolic process | 12q24 |
| MVP | response to drug; mRNA transport; protein transport | 16p11.2 |
| MX1 | signal transduction; type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway; response to virus; defense response; induction of apoptosis | 21q22.3 |
| MX2 | GTP catabolic process; defense response; response to virus; cytokine-mediated signaling pathway; type I interferon-mediated signaling pathway | 21q22.3 |
| MXD1 | cell proliferation; multicellular organismal development; regulation of transcription, DNA-dependent | 2p13-p12 |
| MXD3 | negative regulation of transcription, DNA-dependent | 5q35.3 |
| MXD4 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of cell proliferation | 4p16.3 |
| MXI1 | cytoplasmic sequestering of transcription factor; regulation of transcription, DNA-dependent; negative regulation of cell proliferation | 10q24-q25 |
| MXRA5 | - | Xp22.33 |
| MXRA5P1 | - | Yq11.21 |
| MXRA7 | - | 17q25.1 |
| MXRA8 | - | 1p36.33 |
| MYADM | - | 19q13.42 |
| MYADML | - | 2p22.3 |
| MYADML2 | - | 17q25.3 |
| MYB | negative regulation of transcription from RNA polymerase II promoter; chromatin remodeling; regulation of transcription, DNA-dependent; blood coagulation; positive regulation of T-helper cell differentiation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of histone H3-K4 methylation; positive regulation of histone H3-K9 methylation | 6q22-q23 |
| MYB-AS1 | - | - |
| MYBBP1A | regulation of transcription, DNA-dependent; nucleocytoplasmic transport; cellular response to glucose starvation; positive regulation of cell cycle arrest; signal transduction by p53 class mediator resulting in induction of apoptosis | 17p13.3 |
| MYBL1 | positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 8q22 |
| MYBL2 | regulation of transcription, DNA-dependent; mitotic cell cycle | 20q13.1 |
| MYBPC1 | muscle filament sliding; cell adhesion | 12q23.2 |
| MYBPC2 | muscle filament sliding; cell adhesion | 19q13.33 |
| MYBPC3 | heart morphogenesis; cardiac muscle contraction; ventricular cardiac muscle tissue morphogenesis; regulation of muscle filament sliding; positive regulation of ATPase activity; muscle filament sliding; cell adhesion; regulation of striated muscle contraction | 11p11.2 |
| MYBPH | cell adhesion; regulation of striated muscle contraction | 1q32.1 |
| MYBPHL | - | 1p13.3 |
| MYC | negative regulation of monocyte differentiation; chromosome organization; negative regulation of apoptotic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; fibroblast apoptosis; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of fibroblast proliferation; negative regulation of fibroblast proliferation; positive regulation of epithelial cell proliferation; response to drug; negative regulation of cell division; canonical Wnt receptor signaling pathway; response to growth factor stimulus; positive regulation of metanephric cap mesenchymal cell proliferation; positive regulation of DNA biosynthetic process; positive regulation of response to DNA damage stimulus; negative regulation of G2 phase of mitotic cell cycle; cell cycle arrest; negative regulation of transcription from RNA polymerase II promoter; MAPK cascade; branching involved in ureteric bud morphogenesis; po | 8q24.21 |
| MYCBP | spermatogenesis; regulation of transcription, DNA-dependent | 1p33-p32.2 |
| MYCBP2 | branchiomotor neuron axon guidance; central nervous system projection neuron axonogenesis; regulation of protein localization; cell morphogenesis involved in neuron differentiation; regulation of cytoskeleton organization; regulation of transcription, DNA-dependent | 13q22 |
| MYCBPAP | cell differentiation; sensory perception of sound; spermatogenesis; multicellular organismal development; synaptic transmission | 17q21.33 |
| MYCL | - | 1p34.2 |
| MYCLP2 | - | Xp11.21 |
| MYCN | regulation of transcription from RNA polymerase II promoter | 2p24.3 |
| MYCT1 | - | 6q25.2 |
| MYD88 | cellular response to mechanical stimulus; 3'-UTR-mediated mRNA stabilization; response to interleukin-1; response to virus; positive regulation of interleukin-6 production; positive regulation of interleukin-23 production; positive regulation of interleukin-17 production; response to lipopolysaccharide; response to peptidoglycan; lipopolysaccharide-mediated signaling pathway; cytokine-mediated signaling pathway; immunoglobulin mediated immune response; defense response to Gram-positive bacterium; Toll signaling pathway; cell surface receptor signaling pathway; signal transduction; anti-apoptosis; MyD88-dependent toll-like receptor signaling pathway; response to molecule of fungal origin; toll-like receptor signaling pathway; toll-like receptor 1 signaling pathway; positive regulation of NF-kappaB transcription factor activity; regulation of inflammatory response; positive regulation of lymphocyte proliferation; positive regulation of smooth muscle cell proliferation; nerve growth factor receptor signaling pat | 3p22 |
| MYEF2 | neuron differentiation; myotube differentiation; transcription, DNA-dependent | 15q21.1 |
| MYEOV | - | 11q13 |
| MYEOV2 | - | 2q37.3 |
| MYF6 | muscle cell fate commitment; skeletal muscle tissue development; muscle cell differentiation; positive regulation of muscle cell differentiation; skeletal muscle tissue regeneration; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; multicellular organismal development; regulation of transcription from RNA polymerase II promoter; somitogenesis; muscle tissue morphogenesis; muscle organ development | 12q21 |
| MYH1 | - | 17p13.1 |
| MYH10 | cytokinesis after mitosis; in utero embryonic development; neuron migration; plasma membrane repair; exocytosis; substrate-dependent cell migration, cell extension; nuclear migration; axon guidance; brain development; adult heart development; cell proliferation; regulation of cell shape; fourth ventricle development; lateral ventricle development; third ventricle development; cerebellar Purkinje cell layer development; actin cytoskeleton organization; actin filament-based movement; neuron projection development; neuromuscular process controlling balance; cardiac myofibril assembly; ventricular cardiac muscle cell development; retina development in camera-type eye | 17p13 |
| MYH11 | muscle contraction; smooth muscle contraction; axon guidance; metabolic process; skeletal muscle myosin thick filament assembly; elastic fiber assembly; cardiac muscle fiber development | 16p13.11 |
| MYH13 | muscle contraction; cellular response to starvation | 17p13 |
| MYH14 | axon guidance; ATP catabolic process; actin filament-based movement; regulation of cell shape; metabolic process | 19q13.33 |
| MYH15 | - | 3q13.13 |
| MYH16 | - | 7q22.1 |
| MYH2 | muscle contraction; muscle filament sliding | 17p13.1 |
| MYH3 | muscle organ development; actin filament-based movement; muscle filament sliding | 17p13.1 |
| MYH4 | response to activity; actin filament-based movement; muscle filament sliding; muscle contraction | 17p13.1 |
| MYH6 | cardiac muscle fiber development; sarcomere organization; atrial cardiac muscle tissue morphogenesis; in utero embryonic development; regulation of the force of heart contraction; regulation of heart rate; ATP catabolic process; muscle contraction; striated muscle contraction; adult heart development; visceral muscle development; regulation of heart contraction; regulation of blood pressure; actin filament-based movement; muscle filament sliding; myofibril assembly; BMP signaling pathway; regulation of ATPase activity; canonical Wnt receptor signaling pathway; ventricular cardiac muscle tissue morphogenesis | 14q12 |
| MYH7 | ventricular cardiac muscle tissue morphogenesis; muscle filament sliding; adult heart development; muscle contraction; ATP catabolic process; regulation of heart rate; response to reactive oxygen species | 14q12 |
| MYH7B | - | 20q11.22 |
| MYH8 | muscle contraction; muscle filament sliding | 17p13.1 |
| MYH9 | establishment of meiotic spindle localization; axon guidance; leukocyte migration; blood vessel endothelial cell migration; termination of G-protein coupled receptor signaling pathway; uropod organization; actin cytoskeleton reorganization; monocyte differentiation; platelet formation; actin filament-based movement; cell-cell adhesion; protein transport; regulation of cell shape; myoblast fusion; meiotic metaphase I; membrane protein ectodomain proteolysis; ATP catabolic process; integrin-mediated signaling pathway; establishment of T cell polarity; in utero embryonic development; angiogenesis; cytokinesis; cell morphogenesis involved in differentiation; meiotic spindle organization | 22q13.1 |
| MYL1 | cardiac muscle contraction; muscle filament sliding; muscle organ development; muscle contraction | 2q33-q34 |
| MYL10 | - | 7q22.1 |
| MYL12A | - | 18p11.31 |
| MYL12B | regulation of cell shape; muscle contraction; axon guidance | 18p11.31 |
| MYL2 | heart contraction; regulation of striated muscle contraction; heart development; muscle filament sliding; negative regulation of cell growth; muscle cell fate specification; cardiac myofibril assembly; ventricular cardiac muscle tissue morphogenesis | 12q24.11 |
| MYL3 | skeletal muscle tissue development; muscle filament sliding; positive regulation of ATPase activity; ventricular cardiac muscle tissue morphogenesis; cardiac muscle contraction; regulation of striated muscle contraction; regulation of the force of heart contraction | 3p21.3-p21.2 |
| MYL4 | cardiac muscle contraction; positive regulation of ATPase activity; muscle filament sliding; muscle organ development; regulation of the force of heart contraction | 17q21-qter |
| MYL5 | regulation of muscle contraction | 4p16.3 |
| MYL6 | axon guidance; muscle contraction; skeletal muscle tissue development; muscle filament sliding | 12q13.2 |
| MYL6B | muscle filament sliding; skeletal muscle tissue development; muscle contraction | 12q13.13 |
| MYL6P3 | - | 10q21.3 |
| MYL7 | actin filament-based movement; smooth muscle contraction | 7p21-p11.2 |
| MYL8P | - | 6p21.32 |
| MYL9 | regulation of muscle contraction; muscle contraction; axon guidance | 20q11.23 |
| MYLIP | positive regulation of protein catabolic process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; cholesterol homeostasis; regulation of low-density lipoprotein particle receptor catabolic process; protein destabilization; protein ubiquitination; cellular component movement; nervous system development; negative regulation of low-density lipoprotein particle clearance | 6p23-p22.3 |
| MYLK | muscle contraction; positive regulation of wound healing; cellular hypotonic response; aorta smooth muscle tissue morphogenesis; positive regulation of calcium ion transport; bleb assembly; positive regulation of cell migration; tonic smooth muscle contraction; smooth muscle contraction; protein phosphorylation | 3q21 |
| MYLK-AS1 | - | 3q21 |
| MYLK2 | skeletal muscle cell differentiation; regulation of muscle filament sliding; regulation of MAPK cascade; protein autophosphorylation; regulation of neuronal synaptic plasticity; synaptic vesicle transport; positive regulation of cellular component movement; regulation of cell cycle; cardiac muscle cell differentiation; cardiac muscle tissue morphogenesis; cardiac muscle contraction; positive regulation of fast-twitch skeletal muscle fiber contraction; peptidyl-threonine phosphorylation; satellite cell differentiation; water transport; striated muscle contraction; positive regulation of gene expression; neuromuscular synaptic transmission | 20q13.31 |
| MYLK3 | protein phosphorylation; regulation of vascular permeability involved in acute inflammatory response; sarcomere organization; sarcomerogenesis; cardiac myofibril assembly; positive regulation of sarcomere organization; cellular response to interleukin-1 | 16q11.2 |
| MYLK4 | - | 6p25.2 |
| MYLKP1 | - | 3p13 |
| MYLPF | skeletal muscle tissue development; immune response | 16p11.2 |
| MYNN | transcription, DNA-dependent; regulation of transcription, DNA-dependent | 3q26.2 |
| MYO10 | regulation of filopodium assembly; cytoskeleton-dependent intracellular transport; regulation of cell shape; axon guidance | 5p15.1-p14.3 |
| MYO15A | sensory perception of sound; inner ear morphogenesis; locomotory behavior | 17p11.2 |
| MYO15B | - | 17q25.1 |
| MYO16 | cerebellum development; negative regulation of S phase of mitotic cell cycle; negative regulation of cell proliferation | 13q33.3 |
| MYO16-AS1 | - | 13q33.3 |
| MYO16-AS2 | - | - |
| MYO18A | actomyosin structure organization; cell migration; anti-apoptosis; DNA metabolic process | 17q11.2 |
| MYO18B | - | 22q12.1 |
| MYO19 | - | 17q12 |
| MYO1A | vesicle localization; microvillus assembly; cell projection organization; sensory perception of sound | 12q13-q14 |
| MYO1B | actin filament-based movement; actin filament bundle assembly | 2q12-q34 |
| MYO1C | mRNA transport; protein transport | 17p13.3 |
| MYO1D | negative regulation of phosphatase activity | 17q11-q12 |
| MYO1E | glomerular filtration; nitrogen compound metabolic process; endocytosis; actin filament-based movement; glomerular basement membrane development; vasculogenesis; in utero embryonic development; post-embryonic hemopoiesis; kidney development; platelet-derived growth factor receptor signaling pathway; glomerular visceral epithelial cell development | 15q21-q22 |
| MYO1F | positive regulation of cell migration; regulation of innate immune response; neutrophil degranulation; regulation of actin cytoskeleton organization; defense response to Gram-positive bacterium; negative regulation of cell adhesion | 19p13.3-p13.2 |
| MYO1G | - | 7p13-p11.2 |
| MYO1H | - | 12q24.11 |
| MYO3A | response to stimulus; protein autophosphorylation; sensory perception of sound; visual perception | 10p11.1 |
| MYO3B | response to stimulus; visual perception | 2q31.1-q31.2 |
| MYO5A | secretory granule localization; locomotion involved in locomotory behavior; regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; melanocyte differentiation; insulin secretion; actin filament-based movement; metabolic process; visual perception; synaptic transmission; exocytosis; transport; melanosome transport; melanosome localization; myelination; anagen; long-chain fatty acid biosynthetic process; developmental pigmentation; synapse organization; neuromuscular process controlling balance; endoplasmic reticulum localization; odontogenesis; melanin biosynthetic process | 15q21 |
| MYO5B | regulation of protein localization; vesicle-mediated transport; protein transport | 18q21 |
| MYO5BP1 | - | 9p11.2 |
| MYO5BP2 | - | 9q13 |
| MYO5BP3 | - | 9q13 |
| MYO5C | - | 15q21 |
| MYO6 | synaptic transmission; endocytosis; sensory perception of sound; intracellular protein transport; actin filament-based movement; DNA damage response, signal transduction by p53 class mediator; positive regulation of transcription from RNA polymerase II promoter; regulation of secretion | 6q13 |
| MYO7A | cell projection organization; actin filament-based movement; equilibrioception; eye photoreceptor cell development; inner ear morphogenesis; auditory receptor cell differentiation; post-embryonic organ morphogenesis; sensory perception of light stimulus; sensory perception of sound; visual perception; pigment granule localization; pigment granule transport; auditory receptor cell stereocilium organization; phagolysosome assembly; lysosome organization | 11q13.5 |
| MYO7B | - | 2q21.1 |
| MYO9A | visual perception; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction | 15q22-q23 |
| MYO9B | positive regulation of Rho GTPase activity; regulation of small GTPase mediated signal transduction; ARF protein signal transduction; actin filament-based movement; Rho protein signal transduction; small GTPase mediated signal transduction; ATP catabolic process | 19p13.1 |
| MYOC | anatomical structure morphogenesis | 1q23-q24 |
| MYOCD | positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation; ventricular cardiac muscle cell differentiation; uterus development; urinary bladder development; ductus arteriosus closure; cellular component maintenance at cellular level; cardiac ventricle development; cardiac cell differentiation; positive regulation of smooth muscle cell differentiation; regulation of smooth muscle cell differentiation; smooth muscle cell differentiation; digestive tract development; lung alveolus development; positive regulation of smooth muscle contraction; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of cyclin-dependent protein kinase activity; regulation of myoblast differentiation; positive regulation of DNA binding; regulation of histone acetylation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transforming growth factor b | 17p11.2 |
| MYOD1 | myoblast differentiation; positive regulation of skeletal muscle tissue regeneration; skeletal muscle fiber adaptation; cellular response to starvation; myotube differentiation involved in skeletal muscle regeneration; skeletal muscle cell differentiation; muscle cell differentiation; muscle cell fate commitment; positive regulation of transcription from RNA polymerase II promoter; skeletal muscle fiber development; positive regulation of muscle cell differentiation; cardiac muscle cell differentiation; cellular response to glucocorticoid stimulus; cellular response to oxygen levels; skeletal muscle tissue development; myoblast cell fate determination; muscle organ development; multicellular organismal development; protein phosphorylation; regulation of transcription from RNA polymerase II promoter; regulation of alternative nuclear mRNA splicing, via spliceosome | 11p15.4 |
| MYOF | regulation of vascular endothelial growth factor receptor signaling pathway; cellular response to heat; plasma membrane repair; muscle contraction; blood circulation | 10q24 |
| MYOG | muscle organ development; multicellular organismal development; ossification; regulation of transcription, DNA-dependent; cellular response to growth factor stimulus; cellular response to lithium ion; positive regulation of muscle cell differentiation; skeletal muscle fiber development; positive regulation of transcription from RNA polymerase II promoter; muscle cell fate commitment; muscle cell differentiation; skeletal muscle tissue development | 1q31-q41 |
| MYOM1 | muscle contraction | 18p11.31 |
| MYOM2 | muscle contraction | 8p23.3 |
| MYOM3 | - | 1p36.11 |
| MYOT | muscle contraction | 5q31 |
| MYOZ1 | myofibril assembly | 10q22.1 |
| MYOZ2 | - | 4q26-q27 |
| MYOZ3 | - | 5q33.1 |
| MYPN | sarcomere organization | 10q21.3 |
| MYPOP | negative regulation of transcription from RNA polymerase II promoter | 19q13.32 |
| MYRF | - | 11q12-q13.1 |
| MYRFL | - | 12q15 |
| MYRIP | intracellular protein transport | 3p22.1 |
| MYSM1 | histone deubiquitination; proteolysis; chromatin modification; positive regulation of transcription, DNA-dependent | 1p32.1 |
| MYT1 | cell differentiation; nervous system development; multicellular organismal development; regulation of transcription, DNA-dependent | 20q13.33 |
| MYT1L | nervous system development; cell differentiation; multicellular organismal development | 2p25.3 |
| MYZAP | - | 15q21.3 |
| MZB1 | apoptotic process; positive regulation of immunoglobulin biosynthetic process | 5q31.2 |
| MZF1 | regulation of transcription, DNA-dependent; viral reproduction | 19q13.4 |
| MZF1-AS1 | - | 19q13.43 |
| MZT1 | gamma-tubulin complex localization | 13q22.1 |
| MZT2A | - | 2q21.1 |
| MZT2B | - | 2q21.1 |
| N4BP1 | negative regulation of protein ubiquitination; negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 16q12.1 |
| N4BP2 | - | 4p14 |
| N4BP2L1 | - | 13q13.1 |
| N4BP2L2 | - | 13q13.1 |
| N4BP2L2-IT2 | - | 13q13.1 |
| N4BP3 | - | 5q35.3 |
| N6AMT1 | protein methylation; positive regulation of cell growth | 21q21.3 |
| N6AMT2 | - | 13q12.11 |
| NAA10 | N-terminal protein amino acid acetylation; internal protein amino acid acetylation; DNA packaging | Xq28 |
| NAA11 | - | 4q21.21 |
| NAA15 | positive regulation of transcription, DNA-dependent; cell differentiation; multicellular organismal development; angiogenesis; N-terminal protein amino acid acetylation | 4q31.1 |
| NAA16 | N-terminal protein amino acid acetylation; positive regulation of transcription, DNA-dependent | 13q14.11 |
| NAA20 | - | 20p11.23 |
| NAA25 | - | 12q24.13 |
| NAA30 | - | 14q22.3 |
| NAA35 | smooth muscle cell proliferation | 9q21.33 |
| NAA38 | - | 17p13.1 |
| NAA40 | - | 11q13.1 |
| NAA50 | N-terminal protein amino acid acetylation | 3q13.2 |
| NAA60 | chromosome segregation; N-terminal peptidyl-methionine acetylation | 16p13.3 |
| NAAA | lipid metabolic process | 4q21.1 |
| NAALAD2 | proteolysis | 11q14.3-q21 |
| NAALADL1 | proteolysis | 11q12 |
| NAALADL2 | proteolysis | 3q26.31 |
| NAB1 | Schwann cell differentiation; negative regulation of transcription, DNA-dependent; regulation of epidermis development; myelination; regulation of transcription, DNA-dependent; endochondral ossification | 2q32.3-q33 |
| NAB2 | Schwann cell differentiation; endochondral ossification; nervous system development; cell proliferation; negative regulation of transcription from RNA polymerase III promoter; myelination; regulation of epidermis development | 12q13.3 |
| NABP1 | - | 2q32.3 |
| NABP2 | - | 12q13.3 |
| NACA | protein transport; interspecies interaction between organisms; translation; transcription, DNA-dependent | 12q23-q24.1 |
| NACA2 | protein transport | 17q23.2 |
| NACA3P | - | 4q32.3 |
| NACAD | protein transport | 7p13 |
| NACAP1 | - | 8q22.3 |
| NACC1 | protein homooligomerization; induction of apoptosis; positive regulation of cell proliferation; negative regulation of transcription, DNA-dependent | 19p13.2 |
| NACC2 | protein homooligomerization; negative regulation of transcription, DNA-dependent; positive regulation of cell proliferation | 9q34.3 |
| NADK | vitamin metabolic process; water-soluble vitamin metabolic process; metabolic process; NAD metabolic process; phosphorylation; small molecule metabolic process; ATP metabolic process | 1p36.33 |
| NADK2 | - | 5p13.2 |
| NADK2-AS1 | - | 5p13.2 |
| NADSYN1 | water-soluble vitamin metabolic process; small molecule metabolic process; vitamin metabolic process; NAD metabolic process; NAD biosynthetic process; nitrogen compound metabolic process | 11q13.4 |
| NAE1 | cell cycle; DNA replication; signal transduction; mitotic cell cycle DNA replication checkpoint; regulation of apoptotic process; protein neddylation | 16q22 |
| NAF1 | snRNA pseudouridine synthesis; ribosome biogenesis; rRNA processing | 4q32.2 |
| NAGA | oligosaccharide metabolic process; carbohydrate catabolic process; glycoside catabolic process; glycolipid catabolic process; glycosylceramide catabolic process | 22q11 |
| NAGK | N-acetylglucosamine metabolic process; N-acetylmannosamine metabolic process; carbohydrate phosphorylation | 2p13.3 |
| NAGLU | retinal rod cell development; lysosome organization; nervous system development; metabolic process; inner ear receptor cell development; locomotor rhythm; middle ear morphogenesis; cerebellar Purkinje cell layer development | 17q21 |
| NAGPA | protein modification process; protein targeting to lysosome; lysosome organization; carbohydrate metabolic process | 16p13.3 |
| NAGS | urea cycle; small molecule metabolic process; cellular nitrogen compound metabolic process; cellular amino acid biosynthetic process; glutamate metabolic process | 17q21.31 |
| NAIF1 | induction of apoptosis; apoptotic process | 9q34.11 |
| NAIP | negative regulation of neuron apoptosis; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; nervous system development; anti-apoptosis | 5q13.2 |
| NALCN | transmembrane transport; ion transport | 13q32.3 |
| NALCN-AS1 | - | 13q33.1 |
| NAMPT | water-soluble vitamin metabolic process; positive regulation of nitric-oxide synthase biosynthetic process; small molecule metabolic process; NAD metabolic process; pyridine nucleotide biosynthetic process; NAD biosynthetic process; vitamin metabolic process; signal transduction; adipose tissue development; insulin receptor signaling pathway; positive regulation of cell proliferation; cell-cell signaling; nicotinamide metabolic process | 7q22.3 |
| NAMPTL | - | 10p11.21 |
| NANOGP1 | - | 12p13 |
| NANOGP3 | - | 6p12.1 |
| NANOGP4 | - | 7p15 |
| NANOGP5 | - | 9q31 |
| NANOS1 | epithelial cell migration; cell migration; negative regulation of translation | 10q26.11 |
| NANOS2 | multicellular organismal development; mRNA catabolic process; regulation of translation; spermatogenesis; cell differentiation; germ-line stem cell maintenance; negative regulation of meiosis | 19q13.32 |
| NANOS3 | spermatogenesis; germ cell development; multicellular organismal development; anti-apoptosis; regulation of translation; cell differentiation; regulation of cell cycle; oogenesis | 19p13.13 |
| NANP | N-acetylneuraminate biosynthetic process; carbohydrate metabolic process; metabolic process | 20p11.1 |
| NANS | lipopolysaccharide biosynthetic process; carbohydrate biosynthetic process | 9p24.1-p23 |
| NAP1L1 | positive regulation of cell proliferation; nucleosome assembly; DNA replication | 12q21.2 |
| NAP1L1P1 | - | 11q24.2 |
| NAP1L1P3 | - | 3q13.33 |
| NAP1L2 | nucleosome assembly | Xq13 |
| NAP1L3 | nucleosome assembly | Xq21.3-q22 |
| NAP1L4 | nucleosome assembly | 11p15.5 |
| NAP1L4P1 | - | 1p13.1 |
| NAP1L4P3 | - | 13q14.2 |
| NAP1L5 | nucleosome assembly | 4q22.1|4q21-q22 |
| NAPA | intra-Golgi vesicle-mediated transport; intracellular protein transport; regulation of synaptic vesicle priming; post-Golgi vesicle-mediated transport; cellular membrane fusion; brain development; apical protein localization; SNARE complex disassembly; synaptic transmission, glutamatergic; neuron differentiation; cellular membrane organization | 19q13.33 |
| NAPA-AS1 | - | - |
| NAPB | synaptic transmission, glutamatergic; regulation of synaptic vesicle priming; intracellular protein transport; SNARE complex disassembly | 20p12.3-p11.21 |
| NAPEPLD | lipid metabolic process; phospholipid catabolic process | 7q22.1 |
| NAPG | protein complex assembly; intracellular protein transport; intra-Golgi vesicle-mediated transport; cellular membrane fusion; vesicle-mediated transport; protein stabilization | 18p11.22 |
| NAPRT | vitamin metabolic process; nicotinamide metabolic process; water-soluble vitamin metabolic process; response to oxidative stress; NAD biosynthetic process; nicotinate nucleotide salvage; pyridine nucleotide biosynthetic process; NAD metabolic process; small molecule metabolic process | 8q24.3 |
| NAPSA | membrane protein proteolysis; surfactant homeostasis; proteolysis | 19q13.33 |
| NAPSB | - | 19q13.33 |
| NARF | - | 17q25.3 |
| NARFL | response to hypoxia; regulation of transcription, DNA-dependent; iron-sulfur cluster assembly; oxygen homeostasis | 16p13.3 |
| NARG2P2 | - | 3p11.1 |
| NARS | gene expression; asparaginyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 18q21.31 |
| NARS2 | tRNA aminoacylation for protein translation; gene expression; asparaginyl-tRNA aminoacylation | 11q14.1 |
| NASP | cell cycle; blastocyst development; histone exchange; protein transport; cell proliferation; DNA replication | 1p34.1 |
| NAT1 | xenobiotic metabolic process; small molecule metabolic process | 8p22 |
| NAT10 | - | 11p13 |
| NAT14 | positive regulation of transcription, DNA-dependent; transcription initiation, DNA-dependent | 19q13.42 |
| NAT16 | - | 7q22.1 |
| NAT2 | xenobiotic metabolic process; small molecule metabolic process | 8p22 |
| NAT6 | - | 3p21.3 |
| NAT8 | response to drug; multicellular organismal development; gastrulation with mouth forming second | 2p13.2 |
| NAT8B | multicellular organismal development; gastrulation with mouth forming second | 2p13.1 |
| NAT8L | - | 4p16.3 |
| NAT9 | - | 17q25.1 |
| NATD1 | - | 17p11.2 |
| NAV1 | cell differentiation; nervous system development; multicellular organismal development; neuron migration; microtubule bundle formation | 1q32.3 |
| NAV2 | - | 11p15.1 |
| NAV2-AS2 | - | - |
| NAV2-AS3 | - | - |
| NAV2-AS5 | - | 11p15.1 |
| NAV2-IT1 | - | - |
| NAV3 | - | 12q14.3 |
| NBAS | - | 2p24 |
| NBAT1 | - | 6p22.3 |
| NBEA | - | 13q13 |
| NBEAL1 | - | 2q33.2 |
| NBEAL2 | platelet formation | 3p21.31 |
| NBEAP1 | - | 15q11.2 |
| NBEAP3 | - | - |
| NBL1 | neuron projection morphogenesis; positive regulation of neuron differentiation | 1p36.13 |
| NBN | mitotic cell cycle G2/M transition DNA damage checkpoint; neuromuscular process controlling balance; regulation of fibroblast proliferation; negative regulation of neuron differentiation; isotype switching; response to drug; DNA duplex unwinding; regulation of DNA-dependent DNA replication initiation; positive regulation of cell proliferation; meiosis; positive regulation of kinase activity; cell cycle arrest; cell cycle; apoptotic process; double-strand break repair; DNA repair; blastocyst growth; in utero embryonic development; double-strand break repair via homologous recombination; telomere maintenance; DNA damage checkpoint; positive regulation of protein autophosphorylation; DNA damage response, signal transduction by p53 class mediator; mitotic cell cycle G1/S transition checkpoint; G2/M transition checkpoint | 8q21 |
| NBPF1 | - | 1p36.13 |
| NBPF10 | - | 1q21.1 |
| NBPF11 | - | 1q21.1 |
| NBPF12 | - | 1q21 |
| NBPF14 | - | 1q21.1 |
| NBPF15 | - | 1q21.2 |
| NBPF17P | - | 1q21.2 |
| NBPF2P | - | 1p36.12 |
| NBPF3 | - | 1p36.12 |
| NBPF4 | - | 1p13.3 |
| NBPF8 | - | 1q21.1 |
| NBPF9 | - | 1q21.1 |
| NBR1 | macroautophagy; regulation of bone mineralization; regulation of stress-activated MAPK cascade; negative regulation of osteoblast differentiation; protein oligomerization | 17q21.31 |
| NBR2 | - | 17q21 |
| NCALD | vesicle-mediated transport; synaptic transmission | 8q22.2 |
| NCAM1 | interferon-gamma-mediated signaling pathway; positive regulation of calcium-mediated signaling; homotypic cell-cell adhesion; cytokine-mediated signaling pathway; axon guidance; cell adhesion | 11q23.1 |
| NCAM2 | neuron cell-cell adhesion; cell adhesion | 21q21.1 |
| NCAN | cell adhesion; axon guidance | 19p12 |
| NCAPD2 | cell cycle; cell division; mitotic chromosome condensation; mitosis | 12p13.3 |
| NCAPD2P1 | - | - |
| NCAPD3 | cell cycle; cell division; mitotic chromosome condensation; mitosis | 11q25 |
| NCAPG | cell cycle; mitosis; mitotic chromosome condensation; cell division | 4p15.33 |
| NCAPG2 | cell cycle; inner cell mass cell proliferation; mitosis; chromosome condensation; cell division | 7q36.3 |
| NCAPH | mitosis; cell division; mitotic chromosome condensation; cell cycle | 2q11.2 |
| NCAPH2 | chromosome condensation | 22q13.33 |
| NCBP1 | histone mRNA metabolic process; positive regulation of viral transcription; ncRNA metabolic process; positive regulation of mRNA 3'-end processing; mRNA 3'-end processing; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; spliceosomal snRNP assembly; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA capping; mRNA cleavage; mRNA processing; mRNA export from nucleus; regulation of translational initiation; transport; RNA splicing; gene expression; viral reproduction; RNA metabolic process; gene silencing by RNA | 9q34.1 |
| NCBP2 | RNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear mRNA splicing, via spliceosome; mRNA metabolic process; viral reproduction; gene silencing by RNA; mRNA 3'-end processing; ncRNA metabolic process; gene expression; positive regulation of RNA export from nucleus; positive regulation of viral transcription; RNA splicing; histone mRNA metabolic process; transport; regulation of translational initiation; spliceosomal snRNP assembly; transcription from RNA polymerase II promoter; snRNA export from nucleus; mRNA export from nucleus; mRNA processing; mRNA capping; termination of RNA polymerase II transcription; transcription elongation from RNA polymerase II promoter | 3q29 |
| NCBP2-AS2 | - | 3q29 |
| NCBP3 | - | 17p13.2 |
| NCCRP1 | protein catabolic process | 19q13.2 |
| NCDN | regulation of neuronal synaptic plasticity; neuron projection development; bone resorption | 1p34.3 |
| NCEH1 | lipid catabolic process; metabolic process | 3q26.31 |
| NCF1 | cell communication; superoxide anion generation; innate immune response; respiratory burst; negative regulation of smooth muscle contraction; hydrogen peroxide biosynthetic process; neutrophil mediated killing of gram-positive bacterium; neutrophil mediated killing of fungus; cell proliferation; cellular defense response; inflammatory response; superoxide metabolic process; leukotriene metabolic process; protein targeting to membrane; GTP catabolic process; respiratory burst involved in defense response; leukocyte mediated cytotoxicity; response to yeast | 7q11.23 |
| NCF1C | cell communication | 7q11.23 |
| NCF2 | response to activity; response to hyperoxia; positive regulation of blood pressure; innate immune response; cellular defense response; aging; response to glucose stimulus; response to organic cyclic compound; superoxide metabolic process; response to lipopolysaccharide; response to progesterone stimulus; cellular response to hormone stimulus; response to lipid; response to laminar fluid shear stress; response to drug; superoxide anion generation; positive regulation of neuron apoptosis; respiratory burst | 1q25 |
| NCF4 | oxidation-reduction process; cell communication; immune response | 22q13.1 |
| NCK1 | T cell receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; T cell activation; positive regulation of T cell proliferation; positive regulation of actin filament polymerization; lamellipodium assembly; cell migration; axon guidance; signal complex assembly; actin filament organization; regulation of translation | 3q21 |
| NCK1-AS1 | - | - |
| NCK2 | axon guidance; negative regulation of cell proliferation; cell migration; lamellipodium assembly; positive regulation of actin filament polymerization; regulation of epidermal growth factor-activated receptor activity; positive regulation of transcription from RNA polymerase II promoter; T cell activation; positive regulation of T cell proliferation; epidermal growth factor receptor signaling pathway; signal complex assembly; signal transduction; actin filament organization; regulation of translation | 2q12 |
| NCKAP1 | apoptotic process; central nervous system development | 2q32 |
| NCKAP1L | positive regulation of CD8-positive, alpha-beta T cell differentiation; positive regulation of B cell differentiation; positive regulation of gamma-delta T cell differentiation; positive regulation of lymphocyte differentiation; positive regulation of erythrocyte differentiation; erythrocyte development; B cell receptor signaling pathway; positive regulation of phagocytosis, engulfment; actin polymerization-dependent cell motility; positive regulation of neutrophil chemotaxis; positive regulation of protein phosphorylation; negative regulation of apoptotic process; myeloid cell homeostasis; protein complex assembly; B cell homeostasis; maintenance of cell polarity; neutrophil chemotaxis; positive regulation of actin filament polymerization; cortical actin cytoskeleton organization; positive regulation of B cell proliferation; negative regulation of interleukin-17 production; negative regulation of interleukin-6 production; positive regulation of Rac GTPase activity; positive regulation of cell adhesion mediat | 12q13.1 |
| NCKAP5 | - | 2q21.2 |
| NCKAP5L | - | 12q13.12 |
| NCKIPSD | signal transduction; cytoskeleton organization; NLS-bearing substrate import into nucleus | 3p21 |
| NCL | angiogenesis | 2q37.1 |
| NCLN | regulation of signal transduction; proteolysis | 19p13.3 |
| NCLP1 | - | 9q34.3 |
| NCMAP | - | 1p36.11 |
| NCOA1 | response to retinoic acid; response to estradiol stimulus; androgen receptor signaling pathway; cerebellum development; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter by galactose; response to progesterone stimulus; cellular response to hormone stimulus; cellular lipid metabolic process; small molecule metabolic process; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; estrous cycle phase | 2p23 |
| NCOA2 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; cerebellum development; androgen receptor signaling pathway; cellular lipid metabolic process; small molecule metabolic process; positive regulation of transcription from RNA polymerase II promoter | 8q13.3 |
| NCOA3 | receptor transactivation; multicellular organism growth; positive regulation of intracellular estrogen receptor signaling pathway; androgen receptor signaling pathway; positive regulation of gene expression; histone acetylation; positive regulation of keratinocyte differentiation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; regulation of RNA biosynthetic process; mammary gland branching involved in thelarche; small molecule metabolic process; cellular lipid metabolic process; developmental growth; positive regulation of sequence-specific DNA binding transcription factor activity; vagina development | 20q12 |
| NCOA4 | positive regulation of transcription, DNA-dependent; male gonad development; androgen receptor signaling pathway | 10q11.2 |
| NCOA5 | regulation of transcription, DNA-dependent | 20q12-q13.12 |
| NCOA6 | DNA repair; DNA replication; DNA recombination; transcription initiation, DNA-dependent; transcription initiation from RNA polymerase II promoter; brain development; heart development; response to hormone stimulus; myeloid cell differentiation; intracellular estrogen receptor signaling pathway; glucocorticoid receptor signaling pathway; cellular lipid metabolic process; small molecule metabolic process; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; labyrinthine layer blood vessel development | 20q11 |
| NCOA7 | regulation of transcription, DNA-dependent; cell wall macromolecule catabolic process; positive regulation of transcription from RNA polymerase II promoter | 6q22.32 |
| NCOR1 | regulation of multicellular organism growth; transcription from RNA polymerase II promoter; circadian regulation of gene expression; positive regulation of histone deacetylation; thalamus development; cerebellum development; chromatin modification; negative regulation of phosphatidylinositol 3-kinase cascade; CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation; negative regulation of transcription from RNA polymerase II promoter; cellular lipid metabolic process; small molecule metabolic process; negative regulation of JNK cascade; regulation of catalytic activity; spindle assembly; definitive erythrocyte differentiation; regulation of glycolysis by negative regulation of transcription from RNA polymerase II promoter; regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter; regulation of fatty acid transport; cholesterol homeostasis | 17p11.2 |
| NCOR1P1 | - | 20p11.1 |
| NCOR1P3 | - | - |
| NCOR2 | regulation of transcription, DNA-dependent; regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter; small molecule metabolic process; cellular lipid metabolic process; negative regulation of transcription from RNA polymerase II promoter | 12q24 |
| NCR1 | cellular defense response; signal transduction; natural killer cell activation; regulation of natural killer cell mediated cytotoxicity | 19q13.42 |
| NCR2 | cellular defense response; signal transduction | 6p21.1 |
| NCR3 | cell recognition; inflammatory response; immune response; positive regulation of natural killer cell mediated cytotoxicity | 6p21.3 |
| NCR3LG1 | - | 11p15.1 |
| NCS1 | regulation of neuron projection development; positive regulation of exocytosis; phosphatidylinositol-mediated signaling; negative regulation of calcium ion transport via voltage-gated calcium channel activity | 9q34 |
| NCSTN | membrane protein ectodomain proteolysis; nerve growth factor receptor signaling pathway; positive regulation of catalytic activity; amyloid precursor protein catabolic process; membrane protein intracellular domain proteolysis; protein processing; induction of apoptosis by extracellular signals; Notch receptor processing; Notch signaling pathway; apoptotic process; proteolysis | 1q22-q23 |
| ND2 | - | - |
| ND4 | - | - |
| ND4L | - | - |
| ND5 | - | - |
| ND6 | - | - |
| NDC1 | - | 1p32.3 |
| NDC80 | spindle organization; mitotic sister chromatid segregation; M phase of mitotic cell cycle; establishment of mitotic spindle orientation; mitotic prometaphase; cell cycle; mitotic spindle organization; cell division; mitosis; attachment of spindle microtubules to kinetochore; phosphatidylinositol-mediated signaling; mitotic cell cycle; chromosome segregation | 18p11.32 |
| NDE1 | mitotic prometaphase; G2/M transition of mitotic cell cycle; mitotic cell cycle; establishment of chromosome localization; cell division; M phase of mitotic cell cycle; multicellular organismal development; establishment of mitotic spindle orientation; centrosome duplication; cell differentiation; cerebral cortex development; nervous system development | 16p13.11 |
| NDEL1 | chromosome segregation; M phase of mitotic cell cycle; microtubule cytoskeleton organization; mitotic prometaphase; mitotic cell cycle; neuron migration; inner cell mass cell proliferation; transport; neurofilament cytoskeleton organization; nuclear envelope disassembly; positive regulation of axon regeneration; vesicle transport along microtubule; positive regulation of axon extension; activation of Cdc42 GTPase activity; centrosome localization; multicellular organismal development; nervous system development; retrograde axon cargo transport; regulation of neuron projection development; cell differentiation; central nervous system neuron axonogenesis; cerebral cortex radially oriented cell migration | 17p13.1 |
| NDFIP1 | negative regulation of T cell proliferation; negative regulation of protein transport; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of lymphocyte differentiation; positive regulation of protein catabolic process; negative regulation of isotype switching to IgE isotypes; regulation of isotype switching to IgG isotypes; negative regulation of inflammatory response; negative regulation of interleukin-4 production; negative regulation of transporter activity; positive regulation of protein ubiquitination; negative regulation of gene expression; signal transduction; cellular iron ion homeostasis; negative regulation of type 2 immune response; regulation of myeloid leukocyte differentiation | 5q31.3 |
| NDFIP2 | positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of protein transport; negative regulation of transporter activity; positive regulation of protein ubiquitination; negative regulation of gene expression; signal transduction | 13q31.1 |
| NDFIP2-AS1 | - | - |
| NDN | regulation of growth; genetic imprinting; multicellular organismal homeostasis; respiratory system process; neuron migration; regulation of transcription, DNA-dependent; nervous system development; axonal fasciculation; central nervous system development; negative regulation of cell proliferation; glial cell migration; post-embryonic development; axon extension involved in development; neuron development; nerve growth factor receptor signaling pathway; sensory perception of pain | 15q11.2-q12 |
| NDNF | negative regulation of neuron apoptosis; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; cell growth; positive regulation of neuron projection development; positive regulation of cell-substrate adhesion; nervous system development; neuron migration; extracellular matrix organization | 4q27 |
| NDOR1 | cell death; oxidation-reduction process | 9q34.3 |
| NDP | placenta development; positive regulation of transcription, DNA-dependent; visual perception; sensory perception of sound; cell proliferation; Wnt receptor signaling pathway; extracellular matrix-cell signaling; nervous system development; cell-cell signaling; signal transduction; vacuole organization; response to stimulus; positive regulation of sequence-specific DNA binding transcription factor activity; canonical Wnt receptor signaling pathway; retina vasculature morphogenesis in camera-type eye | Xp11.4 |
| NDP-AS1 | - | - |
| NDRG1 | mast cell activation; response to metal ion; DNA damage response, signal transduction by p53 class mediator; peripheral nervous system myelin maintenance; positive regulation of spindle checkpoint; cellular response to hypoxia | 8q24.3 |
| NDRG2 | regulation of platelet-derived growth factor production; negative regulation of ERK1 and ERK2 cascade; negative regulation of cytokine production; signal transduction; multicellular organismal development; nervous system development; regulation of vascular endothelial growth factor production; Wnt receptor signaling pathway; cell differentiation; negative regulation of smooth muscle cell proliferation | 14q11.2 |
| NDRG3 | spermatogenesis; negative regulation of cell growth; cell differentiation | 20q11.21-q11.23 |
| NDRG4 | response to stress; multicellular organismal development; cell growth; cell differentiation | 16q21-q22.1 |
| NDST1 | heparan sulfate proteoglycan biosynthetic process; embryonic viscerocranium morphogenesis; embryonic neurocranium morphogenesis; midbrain development; forebrain development; polysaccharide biosynthetic process; MAPK cascade; glycosaminoglycan metabolic process; organ morphogenesis; embryo development; fibroblast growth factor receptor signaling pathway; respiratory gaseous exchange; smoothened signaling pathway; inflammatory response; protein sulfation | 5q33.1 |
| NDST2 | heparan sulfate proteoglycan biosynthetic process; cellular process | 10q22 |
| NDST3 | - | 4q26 |
| NDST4 | - | 4q26 |
| NDUFA1 | small molecule metabolic process; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | Xq24 |
| NDUFA10 | mitochondrial electron transport, NADH to ubiquinone; small molecule metabolic process; response to drug; respiratory electron transport chain; transport; nucleobase-containing compound metabolic process | 2q37.3 |
| NDUFA11 | small molecule metabolic process; respiratory electron transport chain; transport | 19p13.3 |
| NDUFA12 | small molecule metabolic process; transport; response to oxidative stress; respiratory gaseous exchange; respiratory electron transport chain | 12q22 |
| NDUFA12P1 | - | - |
| NDUFA13 | protein import into nucleus; apoptotic process; transport; reactive oxygen species metabolic process; negative regulation of transcription, DNA-dependent; small molecule metabolic process; negative regulation of cell growth; apoptotic nuclear change; respiratory electron transport chain; negative regulation of translation; induction of apoptosis by extracellular signals; induction of apoptosis | 19p13.2 |
| NDUFA2 | mitochondrial electron transport, NADH to ubiquinone; transport; respiratory electron transport chain; small molecule metabolic process | 5q31.2 |
| NDUFA3 | small molecule metabolic process; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | 19q13.42 |
| NDUFA3P1 | - | 19q13.31 |
| NDUFA3P3 | - | 1q42.12 |
| NDUFA4 | small molecule metabolic process; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | 7p21.3 |
| NDUFA4L2 | - | 12q13.3 |
| NDUFA5 | respiratory electron transport chain; mitochondrial electron transport, NADH to ubiquinone; transport; small molecule metabolic process | 7q31.33 |
| NDUFA5P12 | - | 8q11.1 |
| NDUFA6 | response to oxidative stress; mitochondrial electron transport, NADH to ubiquinone; transport; respiratory electron transport chain; small molecule metabolic process | 22q13.2 |
| NDUFA6-AS1 | - | 22q13.2 |
| NDUFA7 | mitochondrial electron transport, NADH to ubiquinone; small molecule metabolic process; ATP synthesis coupled electron transport; respiratory electron transport chain; transport | 19p13.2 |
| NDUFA8 | small molecule metabolic process; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | 9q33.2 |
| NDUFA9 | respiratory electron transport chain; mitochondrial electron transport, NADH to ubiquinone; transport; small molecule metabolic process; cellular metabolic process; sodium ion transport | 12p13.3 |
| NDUFA9P1 | - | 22q12.3 |
| NDUFAB1 | respiratory electron transport chain; mitochondrial electron transport, NADH to ubiquinone; fatty acid biosynthetic process; transport; protein lipoylation; small molecule metabolic process | 16p12.2 |
| NDUFAF1 | protein complex assembly; mitochondrial electron transport, NADH to ubiquinone | 15q11.2-q21.3 |
| NDUFAF2 | - | 5q12.1 |
| NDUFAF3 | mitochondrial respiratory chain complex I assembly | 3p21.31 |
| NDUFAF4 | mitochondrial respiratory chain complex I assembly | 6q16.1 |
| NDUFAF4P1 | - | - |
| NDUFAF4P2 | - | 7q21.3 |
| NDUFAF4P3 | - | - |
| NDUFAF5 | - | 20p12.1 |
| NDUFAF6 | - | 8q22.1 |
| NDUFAF7 | - | 2p22.2 |
| NDUFB1 | small molecule metabolic process; respiratory electron transport chain; mitochondrial electron transport, NADH to ubiquinone; transport | 14q32.12 |
| NDUFB10 | small molecule metabolic process; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | 16p13.3 |
| NDUFB11 | small molecule metabolic process; respiratory electron transport chain; transport | Xp11.23 |
| NDUFB11P1 | - | 11q14.3 |
| NDUFB2 | transport; mitochondrial electron transport, NADH to ubiquinone; small molecule metabolic process; respiratory electron transport chain | 7q34 |
| NDUFB2-AS1 | - | 7q34 |
| NDUFB3 | small molecule metabolic process; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | 2q31.3 |
| NDUFB3P3 | - | 14q22.1 |
| NDUFB4 | response to oxidative stress; transport; mitochondrial electron transport, NADH to ubiquinone; respiratory electron transport chain; small molecule metabolic process | 3q13.33 |
| NDUFB4P1 | - | 3p14.1 |
| NDUFB4P2 | - | 5q11.2 |
| NDUFB5 | small molecule metabolic process; respiratory electron transport chain; mitochondrial electron transport, NADH to ubiquinone; transport | 3q26.33 |
| NDUFB6 | small molecule metabolic process; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | 9p21.1 |
| NDUFB7 | small molecule metabolic process; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | 19p13.12 |
| NDUFB8 | mitochondrial electron transport, NADH to ubiquinone; small molecule metabolic process; respiratory electron transport chain; transport | 10q24.31 |
| NDUFB8P2 | - | 17q23.1 |
| NDUFB8P3 | - | 11p13 |
| NDUFB9 | sensory perception of sound; transport; mitochondrial electron transport, NADH to ubiquinone; small molecule metabolic process; respiratory electron transport chain | 8q13.3 |
| NDUFC1 | small molecule metabolic process; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | 4q31.1 |
| NDUFC2 | respiratory electron transport chain; small molecule metabolic process; transport; mitochondrial electron transport, NADH to ubiquinone | 11q14.1 |
| NDUFS1 | ATP synthesis coupled electron transport; reactive oxygen species metabolic process; regulation of mitochondrial membrane potential; ATP metabolic process; cellular respiration; small molecule metabolic process; respiratory electron transport chain; apoptotic process; transport; mitochondrial electron transport, NADH to ubiquinone | 2q33-q34 |
| NDUFS2 | mitochondrial electron transport, NADH to ubiquinone; transport; response to oxidative stress; respiratory electron transport chain; small molecule metabolic process | 1q23 |
| NDUFS3 | transport; reactive oxygen species metabolic process; small molecule metabolic process; negative regulation of cell growth; respiratory electron transport chain; induction of apoptosis; mitochondrial electron transport, NADH to ubiquinone | 11p11.11 |
| NDUFS4 | reactive oxygen species metabolic process; response to cAMP; positive regulation of fibroblast proliferation; cellular respiration; small molecule metabolic process; mitochondrial respiratory chain complex I assembly; respiratory electron transport chain; cAMP-mediated signaling; brain development; transport; mitochondrial electron transport, NADH to ubiquinone; regulation of protein phosphorylation | 5q11.1 |
| NDUFS5 | mitochondrial electron transport, NADH to ubiquinone; transport; respiratory electron transport chain; mitochondrial respiratory chain complex I assembly; small molecule metabolic process | 1p34.2-p33 |
| NDUFS5P2 | - | 1p21.3 |
| NDUFS5P5 | - | 4q26 |
| NDUFS5P7 | - | 17q11.2 |
| NDUFS6 | transport; small molecule metabolic process; respiratory electron transport chain; mitochondrial electron transport, NADH to ubiquinone | 5p15.33 |
| NDUFS7 | small molecule metabolic process; mitochondrial respiratory chain complex I assembly; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | 19p13.3 |
| NDUFS8 | response to oxidative stress; respiratory electron transport chain; mitochondrial respiratory chain complex I assembly; small molecule metabolic process; transport; mitochondrial electron transport, NADH to ubiquinone | 11q13 |
| NDUFV1 | respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone; small molecule metabolic process | 11q13 |
| NDUFV2 | transport; mitochondrial electron transport, NADH to ubiquinone; nervous system development; respiratory electron transport chain; small molecule metabolic process; cardiac muscle tissue development | 18p11.22 |
| NDUFV2-AS1 | - | 18p11.22 |
| NDUFV3 | respiratory electron transport chain; small molecule metabolic process; mitochondrial electron transport, NADH to ubiquinone; transport | 21q22.3 |
| NEB | regulation of actin filament length; muscle filament sliding; somatic muscle development; muscle organ development | 2q22 |
| NEBL | cardiac muscle thin filament assembly | 10p12 |
| NECAB1 | - | 8q21.3 |
| NECAB2 | - | 16q23.3 |
| NECAB3 | regulation of amyloid precursor protein biosynthetic process; protein metabolic process; protein secretion | 20q11.22 |
| NECAP1 | endocytosis; protein transport | 12p13.31 |
| NECAP2 | protein transport; endocytosis | 1p36.13 |
| NEDD1 | mitosis; cell division; mitotic cell cycle; G2/M transition of mitotic cell cycle | 12q23.1 |
| NEDD4 | transmission of virus; protein ubiquitination; protein modification process; protein targeting to lysosome; lysosomal transport; nervous system development; negative regulation of sodium ion transport; negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage; positive regulation of phosphatidylinositol 3-kinase cascade; protein K63-linked ubiquitination; response to calcium ion; regulation of dendrite morphogenesis; progesterone receptor signaling pathway; cytokine-mediated signaling pathway; negative regulation of vascular endothelial growth factor receptor signaling pathway; neuron projection development; receptor internalization; receptor catabolic process; cellular response to UV; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; glucocorticoid receptor signaling pathway; development involved in symbiotic interaction; interspecies interaction between organisms; positive regulation of protein catabolic process; positive regula | 15q |
| NEDD4L | positive regulation of endocytosis; interspecies interaction between organisms; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; regulation of protein catabolic process; water homeostasis; protein ubiquitination; negative regulation of sodium ion transport; response to metal ion; excretion; cellular sodium ion homeostasis; sodium ion transport; protein modification process | 18q21 |
| NEDD8 | protein neddylation; response to organic cyclic compound; anatomical structure morphogenesis; protein localization; ubiquitin-dependent protein catabolic process; proteolysis; protein modification process; regulation of transcription from RNA polymerase II promoter | 14q12 |
| NEDD9 | cell cycle; cytoskeleton organization; mitosis; cell adhesion; signal transduction; integrin-mediated signaling pathway; regulation of growth; actin filament bundle assembly; cell division | 6p25-p24 |
| NEFH | microtubule cytoskeleton organization; nervous system development; cell death; intermediate filament bundle assembly; neurofilament cytoskeleton organization | 22q12.2 |
| NEFHP1 | - | 1p13.1 |
| NEFL | intermediate filament organization; neurofilament bundle assembly; axon transport of mitochondrion; synaptic transmission; anterograde axon cargo transport; retrograde axon cargo transport | 8p21 |
| NEFM | - | 8p21 |
| NEFMP1 | - | - |
| NEGR1 | cell adhesion | 1p31.1 |
| NEIL1 | nucleotide-excision repair; negative regulation of nuclease activity; response to oxidative stress; base-excision repair | 15q24.2 |
| NEIL2 | base-excision repair; nucleotide-excision repair | 8p23.1 |
| NEIL3 | nucleotide-excision repair; base-excision repair | 4q34.3 |
| NEK1 | mitosis; cell projection organization; cilium assembly; cell cycle; protein phosphorylation; cell division | 4q33 |
| NEK10 | - | 3p24.1 |
| NEK11 | protein phosphorylation; cell cycle; intracellular protein kinase cascade; G2/M transition DNA damage checkpoint; intra-S DNA damage checkpoint | 3q22.1 |
| NEK2 | mitotic sister chromatid segregation; G2/M transition of mitotic cell cycle; mitotic cell cycle; protein phosphorylation; chromosome segregation; mitosis; regulation of mitosis; meiosis; negative regulation of DNA binding; regulation of mitotic centrosome separation; protein autophosphorylation; spindle assembly; centrosome separation; cell division; regulation of attachment of spindle microtubules to kinetochore | 1q32.2-q41 |
| NEK3 | protein phosphorylation; cell cycle; mitosis; cell division | 13q14.13 |
| NEK4 | protein phosphorylation; cell cycle; mitosis; cell division | 3p21.1 |
| NEK4P2 | - | - |
| NEK5 | - | 13q14.3 |
| NEK6 | protein autophosphorylation; positive regulation of I-kappaB kinase/NF-kappaB cascade; G2/M transition DNA damage checkpoint; spindle assembly; regulation of cellular senescence; peptidyl-serine phosphorylation; cytokinesis; chromosome segregation; mitosis; regulation of mitotic metaphase/anaphase transition; cell cycle; signal transduction; apoptotic process; protein phosphorylation; regulation of mitotic cell cycle | 9q33.3-q34.11 |
| NEK7 | spindle assembly; regulation of mitotic cell cycle; protein phosphorylation; cytokinesis | 1q31.3 |
| NEK8 | - | 17q11.1 |
| NEK9 | cell cycle; mitosis; cell division | 14q24.3 |
| NELFA | - | 4p16.3 |
| NELFB | - | 9q34 |
| NELFCD | - | 20q13 |
| NELFE | - | 6p21.3 |
| NELL1 | regulation of osteoblast differentiation; nervous system development; cell adhesion; induction of apoptosis; positive regulation of ossification | 11p15.1 |
| NELL2 | regulation of growth; cell adhesion | 12q12 |
| NEMF | nuclear export | 14q22 |
| NEMP1 | - | 12q13.3 |
| NEMP2 | - | 2q32.2 |
| NENF | positive regulation of MAPK cascade | 1q32.3 |
| NEO1 | positive regulation of muscle cell differentiation; muscle cell differentiation; axon guidance; cell adhesion | 15q22.3-q23 |
| NES | G2/M transition of mitotic cell cycle; positive regulation of neural precursor cell proliferation; stem cell proliferation; cell projection morphogenesis; negative regulation of apoptotic process; response to drug; response to nutrient levels; embryonic camera-type eye development; positive regulation of intermediate filament depolymerization; central nervous system development; response to ionizing radiation; brain development; multicellular organismal development | 1q23.1 |
| NET1 | signal transduction; apoptotic process; regulation of cell growth; regulation of Rho protein signal transduction; regulation of small GTPase mediated signal transduction; cellular response to ionizing radiation; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; cellular response to hydrogen peroxide; nerve growth factor receptor signaling pathway; positive regulation of apoptotic process; positive regulation of Rho GTPase activity | 10p15 |
| NETO1 | visual learning; memory; regulation of long-term neuronal synaptic plasticity | 18q22.2 |
| NETO2 | - | 16q11 |
| NEU1 | sphingolipid metabolic process; small molecule metabolic process; glycosphingolipid metabolic process | 6p21.3 |
| NEU3 | carbohydrate metabolic process; glycosphingolipid metabolic process; sphingolipid metabolic process; ganglioside catabolic process; small molecule metabolic process | 11q13.5 |
| NEU4 | small molecule metabolic process; sphingolipid metabolic process; glycosphingolipid metabolic process | 2q37.3 |
| NEURL1 | response to external stimulus; lactation; nervous system development; sperm axoneme assembly; sperm motility | 10q25.1 |
| NEURL1B | - | 5q35.1 |
| NEURL2 | intracellular signal transduction; sarcomere organization | 20q13.12 |
| NEURL3 | - | 2q11.2 |
| NEURL4 | - | 17p13 |
| NEUROD2 | associative learning; protein ubiquitination; cerebellar cortex development; cell differentiation; positive regulation of synaptic plasticity; positive regulation of neuron differentiation; neuron development; positive regulation of calcium-mediated signaling; positive regulation of sequence-specific DNA binding transcription factor activity; cellular response to electrical stimulus; cellular response to calcium ion; positive regulation of synapse maturation; negative regulation of synapse maturation; multicellular organismal development; regulation of transcription from RNA polymerase II promoter; behavioral fear response; nervous system development | 17q12 |
| NEUROG1 | neurogenesis; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of neuron differentiation; cell fate commitment; inner ear morphogenesis; positive regulation of exit from mitosis; nervous system development; multicellular organismal development; regulation of transcription from RNA polymerase II promoter | 5q23-q31 |
| NEUROG2 | regulation of transcription, DNA-dependent; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of neuron differentiation; cell fate commitment; forebrain development; neurogenesis; central nervous system neuron development; neuron migration; axon guidance; multicellular organismal development | 4q25 |
| NEXN | regulation of cell migration; regulation of cytoskeleton organization | 1p31.1 |
| NEXN-AS1 | - | 1p31.1 |
| NF1 | regulation of small GTPase mediated signal transduction; regulation of blood vessel endothelial cell migration; positive regulation of neuron apoptosis; pigmentation; negative regulation of MAPK cascade; negative regulation of MAP kinase activity; positive regulation of apoptotic process; negative regulation of transcription factor import into nucleus; wound healing; negative regulation of Rac protein signal transduction; extracellular matrix organization; collagen fibril organization; adrenal gland development; negative regulation of cell migration; regulation of synaptic transmission, GABAergic; actin cytoskeleton organization; regulation of Ras GTPase activity; positive regulation of Ras GTPase activity; sympathetic nervous system development; cognition; forebrain morphogenesis; artery morphogenesis; cerebral cortex development; smooth muscle tissue development; negative regulation of oligodendrocyte differentiation; negative regulation of astrocyte differentiation; camera-type eye morphogenesis; regulatio | 17q11.2 |
| NF1P2 | - | 15q11.2 |
| NF1P6 | - | 22q11.1 |
| NF1P8 | - | 2q21.1 |
| NF2 | ectoderm development; negative regulation of DNA replication; negative regulation of cell proliferation; Schwann cell proliferation; negative regulation of cell-cell adhesion; actin cytoskeleton organization; negative regulation of cell migration; regulation of hippo signaling cascade; odontogenesis of dentin-containing tooth; negative regulation of tyrosine phosphorylation of Stat3 protein; negative regulation of tyrosine phosphorylation of Stat5 protein; negative regulation of MAPK cascade; negative regulation of protein kinase activity; negative regulation of cell-matrix adhesion; mesoderm formation; cell-cell junction organization; negative regulation of JAK-STAT cascade; positive regulation of stress fiber assembly; lens fiber cell differentiation | 22q12.2 |
| NFAM1 | positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of B cell receptor signaling pathway; regulation of B cell differentiation; intracellular signal transduction; B cell differentiation; cell surface receptor signaling pathway; positive regulation of cytokine production; inflammatory response; signal transduction | 22q13.2 |
| NFASC | synapse organization; protein localization to paranode region of axon; paranodal junction assembly; myelination; protein localization to juxtaparanode region of axon; transmission of nerve impulse; peripheral nervous system development; axon guidance; cell adhesion | 1q32.1 |
| NFAT5 | excretion; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; signal transduction | 16q22.1 |
| NFATC1 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; intracellular signal transduction; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 18q23 |
| NFATC2 | B cell receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; response to drug; positive regulation of B cell proliferation; response to DNA damage stimulus; regulation of transcription, DNA-dependent; cytokine production | 20q13.2 |
| NFATC2IP | cytokine production; regulation of transcription, DNA-dependent | 16p11.2 |
| NFATC3 | patterning of blood vessels; cellular response to lithium ion; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; inflammatory response; heart development; cellular respiration; positive regulation of transcription from RNA polymerase II promoter; smooth muscle cell differentiation; muscle cell development | 16q22.2 |
| NFATC4 | inflammatory response; transcription from RNA polymerase II promoter; cell differentiation | 14q11.2 |
| NFE2 | nucleosome disassembly; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; cell-cell signaling; multicellular organismal development; blood coagulation; hemostasis; blood circulation; negative regulation of bone mineralization; positive regulation of transcription, DNA-dependent | 12q13 |
| NFE2L1 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; heme biosynthetic process; inflammatory response; anatomical structure morphogenesis | 17q21.3 |
| NFE2L2 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; positive regulation of blood coagulation; endoplasmic reticulum unfolded protein response; cellular response to oxidative stress; positive regulation of transcription from RNA polymerase II promoter; regulation of embryonic development; regulation of removal of superoxide radicals; positive regulation of reactive oxygen species metabolic process | 2q31 |
| NFE2L3 | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 7p15.2 |
| NFE2L3P1 | - | 18q21.32 |
| NFE4 | - | 7q22.1 |
| NFIA | viral genome replication; regulation of transcription, DNA-dependent; DNA replication | 1p31.3-p31.2 |
| NFIB | hindbrain development; forebrain development; lung development; anterior commissure morphogenesis; negative regulation of DNA binding; principal sensory nucleus of trigeminal nerve development; negative regulation of mesenchymal cell proliferation involved in lung development; negative regulation of epithelial cell proliferation involved in lung morphogenesis; commissural neuron axon guidance; lung ciliated cell differentiation; Type II pneumocyte differentiation; Type I pneumocyte differentiation; Clara cell differentiation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of cell proliferation; transcription from RNA polymerase II promoter; DNA replication; chondrocyte differentiation; negative regulation of transcription from RNA polymerase II promoter; glial cell differentiation | 9p24.1 |
| NFIC | positive regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; DNA replication; negative regulation of transcription from RNA polymerase II promoter | 19p13.3 |
| NFIL3 | negative regulation of transcription from RNA polymerase II promoter; circadian rhythm; immune response; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 9q22 |
| NFIX | negative regulation of transcription from RNA polymerase II promoter; DNA replication; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter | 19p13.3 |
| NFKB1 | positive regulation of lipid storage; innate immune response; negative regulation of calcidiol 1-monooxygenase activity; negative regulation of vitamin D biosynthetic process; membrane protein intracellular domain proteolysis; negative regulation of cholesterol transport; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; positive regulation of canonical Wnt receptor signaling pathway; cellular response to interleukin-1; cellular response to mechanical stimulus; positive regulation of NF-kappaB transcription factor activity; negative regulation of cellular protein metabolic process; T cell receptor signaling pathway; nerve growth factor receptor signaling pathway; positive regulation of transcription, DNA-dependent; Toll signaling pathway; positive regulation of macrophage derived foam cell differentiation; negative regulation of transcription from R | 4q24 |
| NFKB2 | regulation of transcription, DNA-dependent; MyD88-independent toll-like receptor signaling pathway; signal transduction; Toll signaling pathway; extracellular matrix organization; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; innate immune response; spleen development; positive regulation of NF-kappaB transcription factor activity; germinal center formation; follicular dendritic cell differentiation; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway | 10q24 |
| NFKBIA | response to muramyl dipeptide; response to lipopolysaccharide; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; regulation of cell proliferation; regulation of NF-kappaB import into nucleus; cytoplasmic sequestering of transcription factor; response to exogenous dsRNA; negative regulation of DNA binding; interspecies interaction between organisms; innate immune response; positive regulation of transcription from RNA polymerase II promoter; negative regulation of myeloid cell differentiation; negative regulation of Notch signaling pathway; nerve growth factor receptor signaling pathway; T cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; cellular response to cold; nucleotide-binding oligomerization domain containing 1 signaling pathway; nucleotide-binding oligomerization domain containing 2 signaling pa | 14q13 |
| NFKBIB | transcription, DNA-dependent; signal transduction; cytoplasmic sequestering of NF-kappaB; Toll signaling pathway; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; innate immune response; positive regulation of NF-kappaB transcription factor activity; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway | 19q13.1 |
| NFKBID | positive regulation of thymocyte apoptosis; inflammatory response; negative regulation of NF-kappaB transcription factor activity; negative regulation of T cell differentiation in thymus; negative regulation of I-kappaB kinase/NF-kappaB cascade | 19q13.12 |
| NFKBIE | cytoplasmic sequestering of transcription factor; D-serine transport | 6p21.1 |
| NFKBIL1 | cytoplasmic sequestering of transcription factor | 6p21.3 |
| NFKBIZ | inflammatory response; regulation of transcription, DNA-dependent | 3p12-q12 |
| NFRKB | inflammatory response; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; DNA recombination; DNA repair | 11q24-q25 |
| NFS1 | molybdopterin cofactor biosynthetic process; small molecule metabolic process; iron incorporation into metallo-sulfur cluster; Mo-molybdopterin cofactor biosynthetic process; sulfur amino acid metabolic process; protein complex assembly; cysteine metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process | 20q11.22 |
| NFU1 | iron-sulfur cluster assembly | 2p15-p13 |
| NFX1 | negative regulation of MHC class II biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; inflammatory response; interspecies interaction between organisms | 9p13.3 |
| NFXL1 | - | 4p12 |
| NFYA | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 6p21.3 |
| NFYAP1 | - | 13q21.31 |
| NFYB | positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 12q22-q23 |
| NFYC | positive regulation of transcription, DNA-dependent; protein folding; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 1p32 |
| NFYC-AS1 | - | 1p34.2 |
| NGDN | regulation of translation | 14q11.2 |
| NGEF | small GTPase mediated signal transduction; apoptotic process; regulation of Rho protein signal transduction; regulation of GTPase activity; multicellular organismal development; nervous system development; induction of apoptosis by extracellular signals; cellular process; cell differentiation; nerve growth factor receptor signaling pathway; ephrin receptor signaling pathway; regulation of small GTPase mediated signal transduction; negative regulation of dendritic spine morphogenesis | 2q37 |
| NGF | nerve growth factor processing; memory; positive regulation of cell proliferation; adult locomotory behavior; induction of apoptosis by extracellular signals; response to radiation; response to mechanical stimulus; positive regulation of gene expression; sensory perception of pain; neuron projection development; positive regulation of protein autophosphorylation; peripheral nervous system development; response to lipopolysaccharide; response to nicotine; response to drug; response to peptide hormone stimulus; negative regulation of neuron apoptosis; regulation of neuron differentiation; positive regulation of axon extension; negative regulation of cell cycle; regulation of neurotransmitter secretion; nerve growth factor receptor signaling pathway; Ras protein signal transduction; response to electrical stimulus; positive regulation of nerve growth factor receptor signaling pathway; response to glucocorticoid stimulus; positive regulation of sequence-specific DNA binding transcription factor activity; positive | 1p13.1 |
| NGFR | response to wounding; cell differentiation; nerve development; detection of temperature stimulus; regulation of gene expression; positive regulation of axonogenesis; hair follicle morphogenesis; membrane protein intracellular domain proteolysis; negative regulation of fibroblast growth factor receptor signaling pathway; positive regulation of odontogenesis of dentin-containing tooth; skin development; negative regulation of cell cycle; nerve growth factor receptor signaling pathway; positive regulation of fibroblast proliferation; negative regulation of muscle organ development; regulation of axonogenesis; negative regulation of axonogenesis; negative regulation of hair follicle development; central nervous system development; axon guidance; multicellular organismal development; anti-apoptosis; apoptotic process; induction of apoptosis by extracellular signals | 17q21-q22 |
| NGFRAP1 | apoptotic process; multicellular organismal development; induction of apoptosis by extracellular signals; induction of apoptosis via death domain receptors; regulation of cysteine-type endopeptidase activity involved in apoptotic process; nerve growth factor receptor signaling pathway | Xq22.2 |
| NGLY1 | glycoprotein catabolic process | 3p24.2 |
| NGRN | neuron differentiation; nervous system development; multicellular organismal development | 15q26.1 |
| NHEG1 | - | 6q23 |
| NHEJ1 | DNA recombination; central nervous system development; double-strand break repair via nonhomologous end joining; B cell differentiation; response to ionizing radiation; T cell differentiation; positive regulation of ligase activity | 2q35 |
| NHLRC1 | proteasomal ubiquitin-dependent protein catabolic process; protein polyubiquitination; positive regulation of protein ubiquitination | 6p22.3 |
| NHLRC2 | - | 10q25.3 |
| NHLRC3 | - | 13q13.3 |
| NHLRC4 | - | 16p13.3 |
| NHP2 | rRNA processing; rRNA pseudouridine synthesis | 5q35.3 |
| NHP2P2 | - | 7p15.2 |
| NHS | cell differentiation; lens development in camera-type eye | Xp22.13 |
| NHSL1 | - | 6q23.3 |
| NHSL2 | - | Xq13.1 |
| NICN1 | - | 3p21.31 |
| NID1 | glomerular basement membrane development; positive regulation of cell-substrate adhesion; cell-matrix adhesion; cell adhesion | 1q43 |
| NID2 | cell adhesion; cell-matrix adhesion | 14q22.1 |
| NIF3L1 | positive regulation of transcription, DNA-dependent | 2q33 |
| NIFK | rRNA transcription; rRNA metabolic process; protein complex assembly; negative regulation of phosphatase activity | 2q14.3 |
| NIFK-AS1 | - | 2q14.2 |
| NIM1K | - | 5p12 |
| NIN | microtubule anchoring at centrosome; centrosome localization; centrosome-templated microtubule nucleation | 14q22.1 |
| NINJ1 | nervous system development; cell adhesion; tissue regeneration | 9q22 |
| NINJ2 | tissue regeneration; cell adhesion; neuron cell-cell adhesion; nervous system development | 12p13 |
| NINL | mitotic cell cycle; G2/M transition of mitotic cell cycle | 20p11.22-p11.1 |
| NIP7 | ribosome assembly | 16q22.1 |
| NIP7P2 | - | 3q22.1 |
| NIP7P3 | - | - |
| NIPA1 | cell death; magnesium ion transport; ion transport | 15q11.2 |
| NIPA2 | magnesium ion transport; ion transport | 15q11.2 |
| NIPAL2 | - | 8q22.2 |
| NIPAL3 | - | 1p36.12-p35.1 |
| NIPAL4 | magnesium ion transport; ion transport | 5q33.3 |
| NIPBL | negative regulation of transcription from RNA polymerase II promoter; regulation of developmental growth; mitotic sister chromatid cohesion; external genitalia morphogenesis; cell cycle; response to DNA damage stimulus; outflow tract morphogenesis; heart morphogenesis; metanephros development; negative regulation of transcription, DNA-dependent; positive regulation of multicellular organism growth; ear morphogenesis; embryonic viscerocranium morphogenesis; positive regulation of ossification; cognition; fat cell differentiation; regulation of hair cycle; brain development; sensory perception of sound; positive regulation of histone deacetylation; arm morphogenesis; embryonic arm morphogenesis; cellular protein localization; maintenance of mitotic sister chromatid cohesion; regulation of embryonic development; developmental growth; uterus morphogenesis; cellular response to X-ray; gall bladder development; face morphogenesis; eye morphogenesis; embryonic digestive tract morphogenesis | 5p13.2 |
| NIPBL-AS1 | - | 5p13.2 |
| NIPSNAP1 | - | 22q12.2 |
| NIPSNAP3A | - | 9q31.1 |
| NIPSNAP3B | - | 9q31.1 |
| NISCH | norepinephrine secretion; regulation of synaptic transmission, GABAergic; negative regulation of cell migration; actin cytoskeleton organization; Rac protein signal transduction; regulation of blood pressure; cell communication; apoptotic process; glucose metabolic process | 3p21.1 |
| NIT1 | nitrogen compound metabolic process | 1q21-q22 |
| NIT2 | nitrogen compound metabolic process | 3q12.2 |
| NKAIN1 | - | 1p35.2 |
| NKAIN2 | - | 6q21 |
| NKAIN3 | - | 8q12.3 |
| NKAIN4 | - | 20q13.33 |
| NKAP | Notch signaling pathway; negative regulation of transcription, DNA-dependent; positive regulation of alpha-beta T cell differentiation | Xq24 |
| NKAPP1 | - | Xq24 |
| NKD1 | Wnt receptor signaling pathway | 16q12.1 |
| NKD2 | transport; Wnt receptor signaling pathway; exocytosis | 5p15.3 |
| NKG7 | - | 19q13.41 |
| NKIRAS1 | small GTPase mediated signal transduction; I-kappaB kinase/NF-kappaB cascade; signal transduction; GTP catabolic process | 3p24.2 |
| NKIRAS2 | small GTPase mediated signal transduction; I-kappaB kinase/NF-kappaB cascade; signal transduction; GTP catabolic process | 17q21.2 |
| NKPD1 | - | 19q13.32 |
| NKRF | negative regulation of transcription, DNA-dependent | Xq24 |
| NKTR | protein folding | 3p23-p21 |
| NKX1-2 | multicellular organismal development | 10q26.13 |
| NKX2-1 | cerebral cortex cell migration; hippocampus development; globus pallidus development; forebrain neuron fate commitment; forebrain dorsal/ventral pattern formation; cerebral cortex GABAergic interneuron differentiation; negative regulation of epithelial to mesenchymal transition; positive regulation of gene expression; organ morphogenesis; response to hormone stimulus; feeding behavior; locomotory behavior; endoderm development; brain development; axon guidance; pattern specification process; phospholipid metabolic process; regulation of blood volume by renin-angiotensin; neuron migration; negative regulation of transcription from RNA polymerase II promoter; hyperosmotic salinity response; anatomical structure formation involved in morphogenesis; development of primary female sexual characteristics; pituitary gland development; lung development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; response to ethanol; menarche; oligodendrocy | 14q13 |
| NKX2-1-AS1 | - | - |
| NKX2-2 | spinal cord oligodendrocyte cell fate specification; type B pancreatic cell development; pancreatic A cell fate commitment; type B pancreatic cell fate commitment; pancreatic PP cell fate commitment; smoothened signaling pathway; multicellular organismal development; nervous system development; brain development; oligodendrocyte development; spinal cord motor neuron differentiation; negative regulation of neuron differentiation; ventral spinal cord interneuron fate determination; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of oligodendrocyte differentiation; astrocyte differentiation; neuron fate specification; digestive tract development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of neuron differentiation; endocrine pancreas development | 20p11.22 |
| NKX2-3 | immune response; post-embryonic digestive tract morphogenesis; leukocyte homeostasis; plasma cell differentiation; triglyceride metabolic process; post-embryonic development; gland morphogenesis; B cell differentiation; macrophage differentiation; regulation of cell proliferation; odontogenesis of dentin-containing tooth; CD4-positive, alpha-beta T cell differentiation; positive regulation of transcription from RNA polymerase II promoter; lymph node development; spleen development; Peyer's patch development; digestive tract development; leukocyte migration | 10q24.2 |
| NKX2-4 | multicellular organismal development | 20p11.22 |
| NKX2-5 | adult heart development; apoptosis involved in heart morphogenesis; atrioventricular node cell fate commitment; atrioventricular node cell development; positive regulation of cell proliferation; atrial septum morphogenesis; ventricular septum morphogenesis; heart trabecula formation; positive regulation of transcription initiation from RNA polymerase II promoter; regulation of cardiac muscle cell proliferation; multicellular organismal development; pulmonary myocardium development; proepicardium development; septum secundum development; pharyngeal system development; ventricular trabecula myocardium morphogenesis; right ventricular cardiac muscle tissue morphogenesis; cardiac ventricle formation; embryonic heart tube left/right pattern formation; response to estradiol stimulus; ventricular cardiac myofibril development; positive regulation of calcium ion transport via voltage-gated calcium channel activity; positive regulation of cardioblast differentiation; spleen development; positive regulation of transcri | 5q34 |
| NKX2-8 | negative regulation of epithelial cell proliferation; lung development; axonogenesis; multicellular organismal development; transcription from RNA polymerase II promoter; liver development; transcription, DNA-dependent; regulation of transcription, DNA-dependent | 14q13.3 |
| NKX3-1 | positive regulation of phosphatidylinositol 3-kinase cascade; positive regulation of cell death; negative regulation of gene expression; positive regulation of gene expression; activation of pro-apoptotic gene products; negative regulation of cell proliferation; negative regulation of epithelial cell proliferation involved in prostate gland development; positive regulation of cell proliferation; negative regulation of mitotic cell cycle; epithelial cell proliferation involved in salivary gland morphogenesis; branching involved in prostate gland morphogenesis; pharyngeal system development; positive regulation of cell division; negative regulation of epithelial cell proliferation; branching morphogenesis of a tube; positive regulation of transcription from RNA polymerase II promoter; positive regulation of mitotic cell cycle; androgen receptor signaling pathway; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of insulin-like growth f | 8p21.2 |
| NKX3-2 | negative regulation of apoptotic process; intestinal epithelial cell development; digestive system development; embryonic skeletal system development; skeletal system morphogenesis; organ formation; spleen development; middle ear morphogenesis; negative regulation of chondrocyte differentiation; pancreas development; determination of left/right symmetry; transcription from RNA polymerase II promoter; skeletal system development | 4p16.3 |
| NKX6-1 | pancreas development; neurogenesis; regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification; regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification; organ morphogenesis; cell proliferation; multicellular organismal development; smoothened signaling pathway; negative regulation of transcription from RNA polymerase II promoter; positive regulation of insulin secretion; positive regulation of type B pancreatic cell development; type B pancreatic cell maturation; cellular response to peptide hormone stimulus; cellular response to cytokine stimulus; detection of glucose; positive regulation of sequence-specific DNA binding transcription factor activity; oligodendrocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of glial cell differentiation; negative regulation of glial cell differentiation; positive regulation of neuron different | 4q21.33 |
| NKX6-2 | positive regulation of glial cell differentiation; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; negative regulation of cell fate commitment; positive regulation of cell fate commitment; regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification; regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification; central nervous system myelination; cell differentiation; endocrine pancreas development; negative regulation of glial cell differentiation; oligodendrocyte differentiation; neuromuscular process controlling balance | 10q26 |
| NKX6-3 | - | 8p11.21 |
| NLE1 | inner cell mass cell differentiation; Notch signaling pathway | 17q12 |
| NLGN1 | regulation of synaptic transmission; positive regulation of synapse assembly; positive regulation of synaptic transmission, glutamatergic; positive regulation of dendritic spine development; protein heterotetramerization; protein homooligomerization; neuronal signal transduction; synaptic vesicle clustering; positive regulation of excitatory postsynaptic membrane potential; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; regulation of N-methyl-D-aspartate selective glutamate receptor activity; receptor localization to synapse; postsynaptic density protein 95 clustering; neurexin clustering; alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate receptor clustering; presynaptic membrane assembly; postsynaptic membrane assembly; establishment of protein localization; neuron cell-cell adhesion; heterophilic cell-cell adhesion; cell adhesion; protein targeting; regulation of respiratory gaseous exchange by neurological system process; nervous system develo | 3q26.31 |
| NLGN1-AS1 | - | - |
| NLGN2 | positive regulation of inhibitory postsynaptic membrane potential; gephyrin clustering; positive regulation of synaptic transmission, GABAergic; neuron cell-cell adhesion; postsynaptic density protein 95 clustering; sensory perception of pain; cell-cell adhesion; synapse assembly; regulation of respiratory gaseous exchange by neurological system process; postsynaptic membrane assembly; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; positive regulation of excitatory postsynaptic membrane potential; positive regulation of synapse assembly; neuromuscular process controlling balance; regulation of synaptic transmission; cell-cell junction maintenance; locomotory exploration behavior; protein localization to synapse; positive regulation of synaptic transmission, glutamatergic; terminal button organization; presynaptic membrane assembly | 17p13.1 |
| NLGN3 | neuron cell-cell adhesion; regulation of inhibitory postsynaptic membrane potential; cell adhesion; receptor-mediated endocytosis; regulation of respiratory gaseous exchange by neurological system process; synapse assembly; visual learning; social behavior; axon extension; synapse organization; positive regulation of synapse assembly; rhythmic synaptic transmission; presynaptic membrane assembly | Xq13.1 |
| NLGN4X | vocalization behavior; brainstem development; synapse organization; cell-cell junction organization; positive regulation of organ growth; social behavior; cerebellum development; negative regulation of excitatory postsynaptic membrane potential; cell adhesion; presynaptic membrane assembly | Xp22.33 |
| NLGN4Y | synapse assembly; cell adhesion | Yq11.221 |
| NLK | MAPK cascade; protein autophosphorylation; serine phosphorylation of STAT3 protein; negative regulation of Wnt receptor signaling pathway; peptidyl-threonine phosphorylation; intracellular protein kinase cascade; transforming growth factor beta receptor signaling pathway; protein phosphorylation; regulation of transcription, DNA-dependent | 17q11.2 |
| NLN | proteolysis | 5q12.3 |
| NLRC3 | T cell activation; negative regulation of NF-kappaB transcription factor activity; I-kappaB kinase/NF-kappaB cascade | 16p13.3 |
| NLRC4 | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; defense response to bacterium; positive regulation of apoptotic process; detection of bacterium; inflammatory response; activation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of cysteine-type endopeptidase activity involved in apoptotic process; innate immune response; interleukin-1 beta secretion | 2p22-p21 |
| NLRC5 | negative regulation of NF-kappaB transcription factor activity; positive regulation of type I interferon-mediated signaling pathway; negative regulation of type I interferon-mediated signaling pathway; positive regulation of interferon-gamma-mediated signaling pathway; defense response to virus; positive regulation of transcription from RNA polymerase II promoter; positive regulation of MHC class I biosynthetic process; innate immune response; regulation of kinase activity; negative regulation of type I interferon production | 16q13 |
| NLRP1 | neuron apoptosis; regulation of inflammatory response; positive regulation of interleukin-1 beta secretion; innate immune response; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of apoptotic process; response to muramyl dipeptide; defense response to bacterium; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway | 17p13.2 |
| NLRP10 | - | 11p15.4 |
| NLRP11 | oxidation-reduction process | 19q13.43 |
| NLRP12 | signal transduction; positive regulation of inflammatory response; positive regulation of interleukin-1 beta secretion; negative regulation of interleukin-1 secretion; negative regulation of cytokine secretion; negative regulation of Toll signaling pathway; negative regulation of interleukin-6 biosynthetic process; regulation of interleukin-18 biosynthetic process; negative regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of protein autophosphorylation; negative regulation of signal transduction; release of cytoplasmic sequestered NF-kappaB; activation of cysteine-type endopeptidase activity involved in apoptotic process | 19q13.42 |
| NLRP13 | - | 19q13.43 |
| NLRP14 | multicellular organismal development; spermatogenesis; cell differentiation | 11p15.4 |
| NLRP2 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of interleukin-1 beta secretion | 19q13.42 |
| NLRP2P | - | Xp11.21 |
| NLRP3 | positive regulation of interleukin-1 beta secretion; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; defense response; inflammatory response; signal transduction; detection of biotic stimulus; negative regulation of NF-kappaB transcription factor activity; interleukin-18 production; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; negative regulation of NF-kappaB import into nucleus; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; innate immune response; interleukin-1 secretion; defense response to virus; protein oligomerization | 1q44 |
| NLRP4 | - | 19q13.43 |
| NLRP5 | - | 19q13.43 |
| NLRP6 | regulation of inflammatory response | 11p15 |
| NLRP7 | - | 19q13.42 |
| NLRP8 | - | 19q13.43 |
| NLRP9 | - | 19q13.42 |
| NLRX1 | innate immune response; negative regulation of type I interferon production; interspecies interaction between organisms | 11q23.3 |
| NMB | cell-cell signaling; signal transduction; neuropeptide signaling pathway | 15q22-qter |
| NMBR | G-protein coupled receptor signaling pathway; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; bombesin receptor signaling pathway | 6q21-qter |
| NMD3 | protein transport | 3q26.1 |
| NMD3P1 | - | 7q11.21 |
| NME1 | endocytosis; negative regulation of myeloid leukocyte differentiation; nucleoside diphosphate phosphorylation; GTP biosynthetic process; UTP biosynthetic process; nucleobase-containing small molecule metabolic process; response to cAMP; positive regulation of epithelial cell proliferation; small molecule metabolic process; positive regulation of DNA binding; regulation of apoptotic process; response to drug; cell differentiation; nucleobase-containing small molecule interconversion; nucleotide metabolic process; negative regulation of cell proliferation; lactation; nervous system development; CTP biosynthetic process | 17q21.3 |
| NME1-NME2 | CTP biosynthetic process; GTP biosynthetic process; UTP biosynthetic process | 17q21.3 |
| NME2P1 | GTP biosynthetic process; UTP biosynthetic process; CTP biosynthetic process; nucleotide metabolic process | 12q24.31 |
| NME3 | UTP biosynthetic process; nucleotide metabolic process; induction of apoptosis; apoptotic process; CTP biosynthetic process; GTP biosynthetic process | 16q13.3 |
| NME4 | nucleoside diphosphate phosphorylation; GTP biosynthetic process; UTP biosynthetic process; CTP biosynthetic process; nucleoside metabolic process; nucleotide metabolic process; nucleobase-containing small molecule interconversion; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 16p13.3 |
| NME5 | anti-apoptosis; UTP biosynthetic process; CTP biosynthetic process; nucleoside metabolic process; multicellular organismal development; spermatogenesis; spermatid development; nucleoside diphosphate phosphorylation; GTP biosynthetic process | 5q31 |
| NME6 | CTP biosynthetic process; apoptotic process; anti-apoptosis; nucleotide metabolic process; UTP biosynthetic process; negative regulation of mitosis; nucleoside triphosphate biosynthetic process; GTP biosynthetic process; nucleoside diphosphate phosphorylation; negative regulation of cell growth | 3p21 |
| NME7 | nucleotide metabolic process; CTP biosynthetic process; GTP biosynthetic process; UTP biosynthetic process | 1q24 |
| NME8 | - | 7p14.1 |
| NME9 | GTP biosynthetic process; UTP biosynthetic process; CTP biosynthetic process; cell redox homeostasis | 3q22.3 |
| NMI | JAK-STAT cascade; inflammatory response; transcription from RNA polymerase II promoter | 2q23 |
| NMNAT1 | pyridine nucleotide biosynthetic process; neuroprotection; vitamin metabolic process; water-soluble vitamin metabolic process; NAD metabolic process; biosynthetic process; small molecule metabolic process; NAD biosynthetic process | 1p36.22 |
| NMNAT2 | NAD metabolic process; small molecule metabolic process; biosynthetic process; vitamin metabolic process; pyridine nucleotide biosynthetic process; NAD biosynthetic process; water-soluble vitamin metabolic process | 1q25 |
| NMNAT3 | small molecule metabolic process; NAD metabolic process; pyridine nucleotide biosynthetic process; NAD biosynthetic process; neuroprotection; biosynthetic process; water-soluble vitamin metabolic process; vitamin metabolic process | 3q23 |
| NMNATP | - | 14q31.1 |
| NMRAL1 | - | 16p13.3 |
| NMRK1 | pyridine nucleotide biosynthetic process | 9q21.13 |
| NMRK2 | - | 19p13.3 |
| NMS | regulation of smooth muscle contraction; neuropeptide signaling pathway; locomotor rhythm | 2q11.2 |
| NMT1 | viral reproduction; protein lipoylation; activation of pro-apoptotic gene products; induction of apoptosis by intracellular signals; apoptotic process; N-terminal protein myristoylation; N-terminal protein lipidation; in utero embryonic development | 17q21.31 |
| NMT2 | viral reproduction; egress of virus within host cell; N-terminal protein myristoylation; protein lipoylation | 10p13 |
| NMU | digestion; positive regulation of synaptic transmission; positive regulation of smooth muscle contraction; gastric acid secretion; regulation of smooth muscle contraction; response to stress; signal transduction; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; positive regulation of hormone secretion; photoperiodism; sensory perception of pain; eating behavior | 4q12 |
| NMUR1 | chloride transport; inositol phosphate-mediated signaling; calcium-mediated signaling; neuropeptide signaling pathway; activation of phospholipase C activity; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; G-protein coupled receptor signaling pathway; calcium ion transport; smooth muscle contraction | 2q37.1 |
| NMUR2 | central nervous system development; elevation of cytosolic calcium ion concentration; arachidonic acid secretion; regulation of smooth muscle contraction; response to pain; calcium ion transport; reduction of food intake in response to dietary excess; inositol phosphate-mediated signaling; activation of phospholipase A2 activity by calcium-mediated signaling; calcium-mediated signaling; feeding behavior; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; neuropeptide signaling pathway; cell-cell signaling; synaptic transmission; grooming behavior | 5q33.1 |
| NNMT | xenobiotic metabolic process; methylation; small molecule metabolic process | 11q23.1 |
| NNT | small molecule metabolic process; tricarboxylic acid cycle; proton transport; oxidation-reduction process | 5p12 |
| NNT-AS1 | - | - |
| NOA1 | regulation of cellular respiration; mitochondrial translation; regulation of cell death; apoptotic process | 4q12 |
| NOB1 | - | 16q22.3 |
| NOBOX | ovarian follicle development; multicellular organismal development; cell differentiation; oogenesis; positive regulation of transcription from RNA polymerase II promoter | 7q35 |
| NOC2L | negative regulation of transcription from RNA polymerase II promoter; negative regulation of B cell apoptosis; regulation of transcription, DNA-dependent; nucleolus to nucleoplasm transport; cellular response to UV; negative regulation of histone acetylation; negative regulation of apoptotic process | 1p36.33 |
| NOC3L | fat cell differentiation | 10q23.33 |
| NOC4L | rRNA processing | 12q24.33 |
| NOCT | regulation of transcription, DNA-dependent; rhythmic process; transcription from RNA polymerase II promoter | 4q31.1 |
| NOD1 | positive regulation of dendritic cell antigen processing and presentation; nucleotide-binding oligomerization domain containing signaling pathway; positive regulation of ERK1 and ERK2 cascade; stress-activated MAPK cascade; protein oligomerization; positive regulation of NF-kappaB transcription factor activity; positive regulation of JNK cascade; activation of MAPK activity; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; apoptotic process; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; defense response; inflammatory response; signal transduction; JNK cascade; Toll signaling pathway; detection of biotic stimulus; detection of bacterium; defense response to Gram-positive bacterium; innate immune response; positive regulation of tumor necrosis factor production; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like rece | 7p15-p14 |
| NOD2 | Toll signaling pathway; detection of biotic stimulus; detection of bacterium; positive regulation of interleukin-10 production; positive regulation of interleukin-1 beta production; detection of muramyl dipeptide; response to muramyl dipeptide; positive regulation of prostaglandin-E synthase activity; innate immune response; defense response; positive regulation of interleukin-17 production; positive regulation of interleukin-6 production; positive regulation of stress-activated MAPK cascade; positive regulation of tumor necrosis factor production; positive regulation of B cell activation; regulation of inflammatory response; positive regulation of interleukin-1 beta secretion; positive regulation of epithelial cell proliferation; positive regulation of gamma-delta T cell activation; positive regulation of JNK cascade; positive regulation of Notch signaling pathway; JNK cascade; positive regulation of dendritic cell antigen processing and presentation; positive regulation of phosphatidylinositol 3-kinase acti | 16q21 |
| NODAL | determination of left/right symmetry; multicellular organismal development; inhibition of neuroepithelial cell differentiation; heart looping; embryonic cranial skeleton morphogenesis; vasculature development; floor plate morphogenesis; digestive tract morphogenesis; mesendoderm development; axial mesodermal cell fate specification; positive regulation of transcription from RNA polymerase II promoter; cell fate commitment; cell migration involved in gastrulation; growth; embryonic heart tube development; nervous system development; lung development; stem cell maintenance; cell migration; polarity specification of proximal/distal axis; embryonic pattern specification; positive regulation of cell proliferation; brain development; liver development; transforming growth factor beta receptor signaling pathway involved in primitive streak formation; epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification; left lung morphogenesis; SMAD protein signal transduction; embry | 10q22.1 |
| NOG | somatic stem cell maintenance; forebrain development; negative regulation of BMP signaling pathway; BMP signaling pathway; negative regulation of cell migration; pituitary gland development; neural tube development; cell differentiation in hindbrain; spinal cord development; dorsal/ventral pattern formation; motor axon guidance; nervous system development; pattern specification process; neural tube closure; neural plate morphogenesis; epithelial to mesenchymal transition; mesoderm formation; endoderm formation; in utero embryonic development; ureteric bud development; urogenital system development; osteoblast differentiation; skeletal system development; negative regulation of transcription from RNA polymerase II promoter; positive regulation of glomerulus development; positive regulation of epithelial cell proliferation; negative regulation of cartilage development; somite development; positive regulation of branching involved in ureteric bud morphogenesis; fibroblast growth factor receptor signaling pathway | 17q22 |
| NOL10 | - | 2p25.1 |
| NOL11 | - | 17q24.2 |
| NOL12 | - | 22q13.1 |
| NOL3 | RNA splicing; mRNA processing; anti-apoptosis; regulation of apoptotic process | 16q22.1 |
| NOL4 | - | 18q12 |
| NOL4L | - | 20q11.21 |
| NOL6 | rRNA processing | 9p13.3 |
| NOL7 | - | 6p23 |
| NOL8 | positive regulation of cell growth; rRNA processing; DNA replication | 9q22.31 |
| NOL9 | maturation of 5.8S rRNA | 1p36.31 |
| NOLC1 | mitosis; positive regulation of cell proliferation; box H/ACA snoRNA metabolic process; regulation of protein import into nucleus; positive regulation of transcription, DNA-dependent; rRNA processing; response to osmotic stress; nucleolus organization; cell cycle | 10q24.32 |
| NOM1 | RNA metabolic process | 7q36.3 |
| NOMO3 | - | 16p13 |
| NONO | RNA splicing; DNA repair; DNA recombination; regulation of transcription, DNA-dependent; mRNA processing | Xq13.1 |
| NONOP1 | - | 16q22.1 |
| NOP10 | pseudouridine synthesis; rRNA processing | 15q14-q15 |
| NOP14 | ribosomal small subunit biogenesis; rRNA processing; endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA); endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 4p16.3 |
| NOP14-AS1 | - | 4p16.3 |
| NOP16 | - | 5q35.2 |
| NOP2 | positive regulation of cell proliferation; rRNA processing | 12p13 |
| NOP56 | rRNA processing; cell death | 20p13 |
| NOP56P1 | - | 6p22.1 |
| NOP58 | cell growth; snRNP protein import into nucleus; rRNA processing | 2q33.1 |
| NOP9 | - | 14q12 |
| NOS1 | nitric oxide biosynthetic process; peptidyl-cysteine S-nitrosylation; arginine catabolic process; positive regulation of vasodilation; multicellular organismal response to stress; positive regulation of histone acetylation; neurotransmitter biosynthetic process; regulation of cardiac muscle contraction; cellular response to growth factor stimulus; negative regulation of calcium ion transport; negative regulation of serotonin uptake; negative regulation of hydrolase activity; striated muscle contraction; positive regulation of transcription, DNA-dependent; negative regulation of potassium ion transport; exogenous drug catabolic process; negative regulation of calcium ion transport into cytosol; response to heat; blood coagulation; myoblast fusion; response to hypoxia; regulation of sodium ion transport | 12q24.2-q24.31 |
| NOS1AP | regulation of apoptotic process; regulation of nitric oxide biosynthetic process; regulation of nitric-oxide synthase activity | 1q23.3 |
| NOS2 | response to hypoxia; blood coagulation; positive regulation of leukocyte mediated cytotoxicity; innate immune response in mucosa; arginine catabolic process; superoxide metabolic process; nitric oxide biosynthetic process; peptidyl-cysteine S-nitrosylation; regulation of cell proliferation; negative regulation of protein catabolic process; defense response to bacterium; regulation of cellular respiration; regulation of insulin secretion; defense response to Gram-negative bacterium; positive regulation of killing of cells of other organism; cellular response to lipopolysaccharide; cellular response to interferon-gamma | 17q11.2-q12 |
| NOS2P1 | - | 17q11.2 |
| NOS2P3 | - | 17p11.2 |
| NOS3 | lung development; cellular response to transforming growth factor beta stimulus; positive regulation of apoptotic process; response to drug; response to fluid shear stress; response to cytokine stimulus; response to lipopolysaccharide; response to estradiol stimulus; lipopolysaccharide-mediated signaling pathway; response to lipoprotein stimulus; smooth muscle hyperplasia; negative regulation of muscle hyperplasia; response to organic cyclic compound; negative regulation of platelet activation; response to lead ion; response to mechanical stimulus; response to heat; response to amino acid stimulus; response to hyperoxia; negative regulation of calcium ion transport; negative regulation of hydrolase activity; regulation of nitric-oxide synthase activity; regulation of blood vessel size; negative regulation of smooth muscle cell proliferation; nitric oxide metabolic process; positive regulation of vasodilation; positive regulation of guanylate cyclase activity; positive regulation of angiogenesis; response to e | 7q36 |
| NOSIP | negative regulation of catalytic activity; regulation of nitric-oxide synthase activity; negative regulation of nitric-oxide synthase activity; small molecule metabolic process; nitric oxide metabolic process | 19q13.33 |
| NOSTRIN | regulation of nitric-oxide synthase activity; nitric oxide metabolic process; small molecule metabolic process; endocytosis | 2q31.1 |
| NOTCH1 | neural tube development; lung development; positive regulation of BMP signaling pathway; negative regulation of BMP signaling pathway; forebrain development; hair follicle morphogenesis; organ regeneration; response to corticosteroid stimulus; response to lipopolysaccharide; embryonic hindlimb morphogenesis; tissue regeneration; anagen; compartment pattern specification; positive regulation of apoptotic process; cell differentiation in spinal cord; regulation of somitogenesis; negative regulation of cell-substrate adhesion; positive regulation of epithelial to mesenchymal transition; gene expression; auditory receptor cell fate commitment; embryo development; epidermis development; positive regulation of cell proliferation; heart development; endoderm development; foregut morphogenesis; axonogenesis; negative regulation of canonical Wnt receptor signaling pathway; regulation of developmental process; somatic stem cell division; neuron fate commitment; positive regulation of astrocyte differentiation; negative | 9q34.3 |
| NOTCH2 | gene expression; regulation of developmental process; cell growth; stem cell maintenance; hemopoiesis; cell differentiation; tissue regeneration; positive regulation of Ras protein signal transduction; bone remodeling; cell fate determination; organ morphogenesis; negative regulation of cell proliferation; nervous system development; multicellular organismal development; Notch receptor processing; Notch signaling pathway; cell cycle arrest; induction of apoptosis; anti-apoptosis; regulation of transcription, DNA-dependent | 1p13-p11 |
| NOTCH2NL | cell differentiation; multicellular organismal development; Notch signaling pathway | 1q21.2 |
| NOTCH3 | tissue regeneration; negative regulation of neuron differentiation; glomerular capillary formation; regulation of developmental process; neuron fate commitment; positive regulation of smooth muscle cell proliferation; regulation of transcription, DNA-dependent; Notch signaling pathway; Notch receptor processing; multicellular organismal development; gene expression; forebrain development | 19p13.2-p13.1 |
| NOTCH4 | regulation of developmental process; positive regulation of transcription, DNA-dependent; negative regulation of endothelial cell differentiation; negative regulation of cell differentiation; mammary gland development; cell differentiation; hemopoiesis; gene expression; embryo development; multicellular organismal development; Notch receptor processing; Notch signaling pathway; endothelial cell morphogenesis; morphogenesis of a branching structure; cell fate determination; patterning of blood vessels | 6p21.3 |
| NOTUM | - | 17q25.3 |
| NOV | regulation of cell growth | 8q24.1 |
| NOVA1 | RNA processing; synaptic transmission; locomotory behavior; RNA splicing | 14q |
| NOVA1-AS1 | - | 14q12 |
| NOVA2 | - | 19q13.3 |
| NOX1 | response to pH; angiogenesis; NADP metabolic process; FADH2 metabolic process; superoxide metabolic process; hydrogen peroxide metabolic process; positive regulation of integrin biosynthetic process; ion transport; respiratory burst; response to stress; positive regulation of smooth muscle cell proliferation; superoxide anion generation; inflammatory response; positive regulation vascular endothelial growth factor production; positive regulation of cell proliferation; proton transport; regulation of blood pressure; signal transduction; cell migration; electron transport chain; intracellular pH elevation; oxidation-reduction process | Xq22 |
| NOX3 | temperature homeostasis; detection of gravity; superoxide anion generation; otolith development | 6q25.3 |
| NOX4 | inflammatory response; reactive oxygen species metabolic process; oxidation-reduction process; homocysteine metabolic process; superoxide anion generation; negative regulation of cell proliferation; cell aging; cell morphogenesis | 11q14.2-q21 |
| NOX5 | superoxide anion generation; regulation of fusion of sperm to egg plasma membrane; cytokine secretion; oxidation-reduction process; positive regulation of reactive oxygen species metabolic process; electron transport chain; cytokinesis; angiogenesis; endothelial cell proliferation; proton transport; regulation of proton transport; cell proliferation; ion transport; induction of apoptosis | 15q23 |
| NOXA1 | regulation of respiratory burst; positive regulation of catalytic activity; regulation of hydrogen peroxide metabolic process; superoxide metabolic process | 9q34.3 |
| NOXO1 | regulation of respiratory burst; regulation of hydrogen peroxide metabolic process; cell communication; superoxide metabolic process; extracellular matrix disassembly; positive regulation of catalytic activity | 16p13.3 |
| NOXRED1 | proline biosynthetic process | 14q24.3 |
| NPAP1 | - | 15q11-q13 |
| NPAP1P3 | - | - |
| NPAS1 | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; central nervous system development; behavior | 19q13.2-q13.3 |
| NPAS2 | cellular lipid metabolic process; small molecule metabolic process; positive regulation of transcription from RNA polymerase II promoter; rhythmic process; central nervous system development; regulation of transcription, DNA-dependent | 2q11.2 |
| NPAS3 | locomotory behavior; social behavior; maternal behavior; positive regulation of transcription, DNA-dependent | 14q12-q13 |
| NPAS4 | positive regulation of transcription from RNA polymerase II promoter | 11q13 |
| NPAT | positive regulation of transcription, DNA-dependent; regulation of gene expression; cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle | 11q22-q23 |
| NPB | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 17q25.3 |
| NPBWR2 | G-protein coupled receptor signaling pathway; opioid receptor signaling pathway | 20q13.3 |
| NPC1 | lysosomal transport; cholesterol homeostasis; cholesterol efflux; sterol transport; bile acid metabolic process; autophagy | 18q11.2 |
| NPC1L1 | cholesterol biosynthetic process; small molecule metabolic process; lipoprotein metabolic process; cholesterol transport; intestinal cholesterol absorption; lipid metabolic process; sterol transport; steroid metabolic process | 7p13 |
| NPC2 | cholesterol transport; intracellular sterol transport; intracellular cholesterol transport; regulation of isoprenoid metabolic process; cholesterol efflux; cholesterol homeostasis; glycolipid transport; response to virus; phospholipid transport | 14q24.3 |
| NPCDR1 | - | 3p21.1 |
| NPDC1 | - | 9q34.3 |
| NPEPL1 | proteolysis | 20q13.32 |
| NPEPPS | protein polyubiquitination; cellular response to hypoxia; proteolysis; antigen processing and presentation of peptide antigen via MHC class I | 17q21 |
| NPFF | neuropeptide signaling pathway; synaptic transmission | 12q13.13 |
| NPFFR1 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 10q21-q22 |
| NPFFR2 | detection of abiotic stimulus; G-protein coupled receptor signaling pathway | 4q21 |
| NPHP1 | signal transduction; excretion; visual behavior; cell-cell adhesion; cell projection organization; actin cytoskeleton organization; spermatid differentiation; retina development in camera-type eye | 2q13 |
| NPHP3 | lipid metabolic process; Wnt receptor signaling pathway; regulation of Wnt receptor signaling pathway, planar cell polarity pathway; negative regulation of canonical Wnt receptor signaling pathway; cilium morphogenesis; maintenance of organ identity; photoreceptor cell maintenance | 3q22.1 |
| NPHP3-AS1 | - | 3q22.1 |
| NPHP4 | retina development in camera-type eye; actin cytoskeleton organization; cell-cell adhesion; visual behavior; signal transduction | 1p36 |
| NPHS1 | multicellular organismal development; MAPK cascade; cell adhesion; JNK cascade; muscle organ development; skeletal muscle tissue development; myoblast fusion; excretion; glomerular basement membrane development; regulation of excretion; glomerular visceral epithelial cell development | 19q13.1 |
| NPHS2 | actin cytoskeleton reorganization; excretion | 1q25.2 |
| NPIPA1 | - | 16p13.11 |
| NPIPA5 | - | 16p13.11 |
| NPIPB11 | - | 16p11.2 |
| NPIPB15 | - | 16q23.1 |
| NPIPB1P | - | 18p11.21 |
| NPIPB3 | - | 16p12.2 |
| NPIPB4 | - | 16p12.2 |
| NPIPB5 | - | 16p12.2 |
| NPIPB6 | - | 16p11.2 |
| NPIPB7 | - | 16p11.2 |
| NPL | carbohydrate metabolic process | 1q25 |
| NPLOC4 | Golgi organization; cellular membrane fusion; ER-associated protein catabolic process | 17qter |
| NPM1 | negative regulation of cell proliferation; protein localization; negative regulation of centrosome duplication; regulation of endodeoxyribonuclease activity; CenH3-containing nucleosome assembly at centromere; ribosome assembly; interspecies interaction between organisms; regulation of centriole replication; positive regulation of NF-kappaB transcription factor activity; protein oligomerization; regulation of endoribonuclease activity; cell aging; DNA repair; nucleosome assembly; intracellular protein transport; nucleocytoplasmic transport; anti-apoptosis; response to stress; centrosome cycle; signal transduction | 5q35.1 |
| NPM1P11 | - | 7p21.3 |
| NPM1P13 | - | 7p21.3 |
| NPM1P18 | - | 7p14.2 |
| NPM1P2 | - | 18q11.2 |
| NPM1P21 | - | 8q12.1 |
| NPM1P22 | - | 13q21.32 |
| NPM1P27 | - | - |
| NPM1P31 | - | 10q26.13 |
| NPM1P33 | - | 2q33.2 |
| NPM1P35 | - | 11q12.3 |
| NPM1P36 | - | 6p12.1 |
| NPM1P37 | - | - |
| NPM1P39 | - | 1p36.11 |
| NPM1P42 | - | 15q24.1 |
| NPM1P46 | - | 2q33.1 |
| NPM1P5 | - | 15q26.1 |
| NPM1P51 | - | 6p21.1 |
| NPM1P6 | - | 8q12.2 |
| NPM1P7 | - | 12p13.31 |
| NPM1P8 | - | Xp21.1 |
| NPM1P9 | - | Xp22.2 |
| NPM2 | chromatin remodeling; regulation of exit from mitosis; single fertilization; positive regulation of meiosis; embryo development; oocyte differentiation | 8p21.3 |
| NPM3 | rRNA processing; rRNA transcription | 10q24.31 |
| NPNT | cell differentiation; multicellular organismal development; cell adhesion | 4q24 |
| NPPA | cGMP biosynthetic process; receptor guanylyl cyclase signaling pathway; regulation of blood pressure; negative regulation of cell growth; response to insulin stimulus; regulation of blood vessel size | 1p36.21 |
| NPPA-AS1 | - | 1p36.21 |
| NPPB | inflammatory response; heart development; response to hypoxia; cGMP biosynthetic process; receptor guanylyl cyclase signaling pathway; regulation of blood vessel size; response to calcium ion; negative regulation of smooth muscle cell proliferation; response to peptide hormone stimulus; regulation of vascular permeability; response to drug; regulation of vasodilation; positive regulation of renal sodium excretion; positive regulation of urine volume; negative regulation of cell growth; negative regulation of angiogenesis; response to organic cyclic compound; regulation of blood pressure; body fluid secretion; cell surface receptor signaling pathway | 1p36.2 |
| NPPC | growth plate cartilage chondrocyte differentiation; response to ethanol; positive regulation of osteoblast differentiation; response to drug; regulation of multicellular organism growth; positive regulation of cGMP biosynthetic process; regulation of vasoconstriction; post-embryonic development; negative regulation of cell proliferation; regulation of blood pressure; receptor guanylyl cyclase signaling pathway; cGMP biosynthetic process; ossification; response to hypoxia; growth plate cartilage chondrocyte proliferation; positive regulation of vasodilation; organ development; regulation of smooth muscle cell proliferation; regulation of blood vessel size; negative regulation of DNA metabolic process | 2q24-qter |
| NPR1 | positive regulation of urine volume; regulation of vasodilation; intracellular signal transduction; positive regulation of cGMP biosynthetic process; negative regulation of cell growth; negative regulation of angiogenesis; regulation of blood pressure; body fluid secretion; receptor guanylyl cyclase signaling pathway; cell surface receptor signaling pathway; cGMP biosynthetic process; positive regulation of renal sodium excretion; dopamine metabolic process; regulation of vascular permeability; negative regulation of smooth muscle cell proliferation; regulation of blood vessel size | 1q21-q22 |
| NPR2 | cellular response to granulocyte macrophage colony-stimulating factor stimulus; bone development; intracellular signal transduction; regulation of blood pressure; ossification; receptor guanylyl cyclase signaling pathway; cell surface receptor signaling pathway; signal transduction; cGMP biosynthetic process | 9p21-p12 |
| NPR3 | skeletal system development; inhibition of adenylate cyclase activity by G-protein signaling pathway; osteoclast proliferation; positive regulation of urine volume; regulation of osteoblast proliferation; regulation of blood pressure; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger | 5p14-p13 |
| NPRL2 | negative regulation of kinase activity; protein phosphorylation | 3p21.3 |
| NPRL3 | - | 16p13.3 |
| NPSR1 | - | 7p14.3 |
| NPSR1-AS1 | - | 7p14.3 |
| NPTN | positive regulation of fibroblast growth factor receptor signaling pathway; positive regulation of long-term neuronal synaptic plasticity; long-term synaptic potentiation; positive regulation of neuron projection development; positive regulation of protein phosphorylation; cell adhesion; nervous system development; homophilic cell adhesion; elevation of cytosolic calcium ion concentration | 15q22 |
| NPTN-IT1 | - | 15q24.1 |
| NPTX1 | transport; synaptic transmission; central nervous system development; axonogenesis involved in innervation | 17q25.3 |
| NPTX2 | synaptic transmission | 7q21.3-q22.1 |
| NPTXR | response to hydrogen peroxide | 22q13.1 |
| NPVF | neuropeptide signaling pathway; sensory perception of pain; negative regulation of gonadotropin secretion | 7p21-p15 |
| NPW | feeding behavior; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 16p13.3 |
| NPY | digestion; cell proliferation; adult feeding behavior; central nervous system neuron development; cerebral cortex development; neuron projection development; positive regulation of appetite; negative regulation of blood pressure; sensory perception of taste; blood circulation; feeding behavior; behavior; synaptic transmission; neuropeptide signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; cellular component movement; calcium ion transport | 7p15.1 |
| NPY1R | glucose metabolic process; locomotory behavior; G-protein signaling, coupled to cyclic nucleotide second messenger; inhibition of adenylate cyclase activity by G-protein signaling pathway; synaptic transmission; negative regulation of hormone secretion; positive regulation of vasoconstriction; regulation of multicellular organism growth; response to estradiol stimulus; sensory perception of pain; regulation of blood pressure; feeding behavior; reduction of cytosolic calcium ion concentration; outflow tract morphogenesis | 4q31.3-q32 |
| NPY5R | positive regulation of anti-apoptosis; positive regulation of smooth muscle cell proliferation; generation of ovulation cycle rhythm; eating behavior; negative regulation of synaptic transmission, GABAergic; negative regulation of glutamate secretion; synaptic transmission; positive regulation of acute inflammatory response; outflow tract morphogenesis; cardiac left ventricle morphogenesis; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 4q31-q32 |
| NPY6R | - | 5q31.2 |
| NQO1 | synaptic transmission, cholinergic; response to oxidative stress; positive regulation of neuron apoptosis; negative regulation of catalytic activity; cellular nitrogen compound metabolic process; response to toxin; regulation of cellular amino acid metabolic process; xenobiotic metabolic process; nitric oxide biosynthetic process; small molecule metabolic process | 16q22.1 |
| NQO2 | - | 6p25.2 |
| NR0B1 | Sertoli cell differentiation; steroid biosynthetic process; protein localization; gonad development; male gonad development; response to organic substance; gene expression; hypothalamus development; pituitary gland development; male sex determination; spermatogenesis; response to stress; negative regulation of transcription from RNA polymerase II promoter; adrenal gland development; intracellular receptor mediated signaling pathway; negative regulation of intracellular steroid hormone receptor signaling pathway; Leydig cell differentiation; negative regulation of sequence-specific DNA binding transcription factor activity; response to peptide hormone stimulus; negative regulation of cell differentiation; negative regulation of transcription, DNA-dependent | Xp21.3 |
| NR0B2 | negative regulation of transcription from RNA polymerase II promoter; organ regeneration; positive regulation of insulin secretion; cholesterol metabolic process; response to glucose stimulus; gene expression; androgen receptor signaling pathway; negative regulation of sequence-specific DNA binding transcription factor activity | 1p36.1 |
| NR1D1 | negative regulation of transcription from RNA polymerase II promoter; circadian rhythm; gene expression; negative regulation of receptor biosynthetic process; intracellular receptor mediated signaling pathway; negative regulation of toll-like receptor 4 signaling pathway; steroid hormone mediated signaling pathway; cellular response to lipopolysaccharide; positive regulation of cholesterol homeostasis | 17q11.2 |
| NR1D2 | intracellular receptor mediated signaling pathway; regulation of transcription, DNA-dependent; gene expression | 3p24.2 |
| NR1H2 | positive regulation of cholesterol efflux; lipid homeostasis; negative regulation of interferon-gamma-mediated signaling pathway; positive regulation of pancreatic juice secretion; positive regulation of secretion of lysosomal enzymes; positive regulation of high-density lipoprotein particle assembly; positive regulation of triglyceride biosynthetic process; negative regulation of macrophage derived foam cell differentiation; gene expression; negative regulation of transcription from RNA polymerase II promoter; positive regulation of lipid storage; positive regulation of fatty acid biosynthetic process; negative regulation of cholesterol storage; intracellular receptor mediated signaling pathway; positive regulation of cellular protein metabolic process; negative regulation of lipid transport; positive regulation of cholesterol transport; cholesterol homeostasis; cellular lipid metabolic process; positive regulation of lipoprotein lipase activity; negative regulation of proteolysis; negative regulation of tra | 19q13.3 |
| NR1H3 | positive regulation of fatty acid biosynthetic process; positive regulation of cholesterol efflux; negative regulation of cholesterol storage; intracellular receptor mediated signaling pathway; positive regulation of cellular protein metabolic process; negative regulation of lipid transport; positive regulation of cholesterol transport; response to progesterone stimulus; positive regulation of toll-like receptor 4 signaling pathway; cellular lipid metabolic process; cholesterol homeostasis; apoptotic cell clearance; negative regulation of macrophage activation; regulation of circadian rhythm; positive regulation of cholesterol homeostasis; negative regulation of secretion of lysosomal enzymes; negative regulation of pancreatic juice secretion; positive regulation of triglyceride biosynthetic process; negative regulation of pinocytosis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of inflammatory response; positive regulation of lipoprotein lipase activity; lipid ho | 11p11.2 |
| NR1H4 | regulation of urea metabolic process; positive regulation of glutamate metabolic process; positive regulation of transcription from RNA polymerase II promoter; regulation of bile acid biosynthetic process; cellular response to acid; cellular response to organic nitrogen; intracellular receptor mediated signaling pathway; regulation of cholesterol metabolic process; gene expression; bile acid metabolic process; signal transduction; regulation of transcription, DNA-dependent; nitrogen catabolite activation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter | 12q23.1 |
| NR1I2 | drug export; xenobiotic metabolic process; signal transduction; steroid metabolic process; gene expression; intracellular receptor mediated signaling pathway; exogenous drug catabolic process; xenobiotic transport; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 3q12-q13.3 |
| NR1I3 | intracellular receptor mediated signaling pathway; androgen receptor signaling pathway; gene expression; negative regulation of transcription, DNA-dependent; signal transduction; regulation of transcription, DNA-dependent | 1q23.3 |
| NR2C1 | gene expression; steroid hormone mediated signaling pathway; negative regulation of transcription from RNA polymerase II promoter; positive regulation of retinoic acid receptor signaling pathway | 12q22 |
| NR2C2 | positive regulation of transcription from RNA polymerase II promoter; nervous system development; cell differentiation; gene expression; regulation of transcription, DNA-dependent; spermatogenesis | 3p25 |
| NR2C2AP | gene expression; cell adhesion | 19p13.11 |
| NR2E1 | gene expression; dentate gyrus development; glial cell migration; behavior; visual perception; brain development; nervous system development; multicellular organismal development; aggressive behavior; behavioral fear response; amygdala development; olfactory bulb development; layer formation in cerebral cortex; cerebral cortex neuron differentiation; positive regulation of neural precursor cell proliferation; negative regulation of neural precursor cell proliferation; regulation of cell migration involved in sprouting angiogenesis; long-term synaptic potentiation; regulation of timing of neuron differentiation; retina development in camera-type eye; regulation of cellular component organization; regulation of dendrite morphogenesis; negative regulation of astrocyte differentiation; positive regulation of cell cycle; negative regulation of neuron differentiation; forebrain generation of neurons; anterior commissure morphogenesis; cerebral cortex development; extracellular matrix organization; somatic stem cell | 6q21 |
| NR2E3 | signal transduction; transcription from RNA polymerase II promoter; visual perception; phototransduction; gene expression; response to stimulus; intracellular receptor mediated signaling pathway | 15q22.32 |
| NR2F1 | forebrain development; intracellular receptor mediated signaling pathway; gene expression; signal transduction; regulation of transcription, DNA-dependent; neuron migration; negative regulation of transcription from RNA polymerase II promoter | 5q14 |
| NR2F1-AS1 | - | 5q15 |
| NR2F2 | regulation of transcription involved in lymphatic endothelial cell fate commitment; response to estradiol stimulus; forebrain development; intracellular receptor mediated signaling pathway; negative regulation of endothelial cell migration; radial pattern formation; anterior/posterior pattern specification; skeletal muscle tissue development; signal transduction; lipid metabolic process; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; lymph vessel development; negative regulation of endothelial cell proliferation; neuron migration; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cyclin-dependent protein kinase activity; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; blood vessel morphogenesis; limb development | 15q26 |
| NR2F2-AS1 | - | 15q26.2 |
| NR2F6 | steroid hormone mediated signaling pathway; detection of temperature stimulus involved in sensory perception of pain; neuron development; entrainment of circadian clock by photoperiod; negative regulation of transcription from RNA polymerase II promoter; signal transduction; intracellular receptor mediated signaling pathway; gene expression | 19p13.1 |
| NR3C1 | anti-apoptosis; response to radiation; glucocorticoid metabolic process; circadian rhythm; aging; brain development; signal transduction; regulation of gluconeogenesis; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription, DNA-dependent; cellular response to magnesium ion; regulation of cell proliferation; mammary gland duct morphogenesis; response to corticosterone stimulus; chromatin-mediated maintenance of transcription; response to mercury ion; response to arsenic-containing substance; positive regulation of neuron apoptosis; glucocorticoid mediated signaling pathway; negative regulation of vascular permeability; glucocorticoid receptor signaling pathway; gene expression; response to insulin stimulus; regulation of glucocorticoid biosynthetic process; negative regulation of transforming growth factor beta receptor signaling pathway; adrenal gland development; lung development; chromatin modification; muscle atrophy; response to activity; positive regulat | 5q31.3 |
| NR3C2 | gene expression; regulation of transcription, DNA-dependent; signal transduction; steroid hormone mediated signaling pathway | 4q31.1 |
| NR4A1 | intracellular receptor mediated signaling pathway; gene expression; fibroblast growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; signal transduction; induction of apoptosis; cell migration involved in sprouting angiogenesis; phosphatidylinositol-mediated signaling; positive regulation of endothelial cell proliferation; nerve growth factor receptor signaling pathway; cellular response to fibroblast growth factor stimulus; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; cellular response to vascular endothelial growth factor stimulus; endothelial cell chemotaxis | 12q13 |
| NR4A2 | habenula development; response to hypoxia; neuron migration; response to amphetamine; transcription, DNA-dependent; nervous system development; dopaminergic neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; regulation of respiratory gaseous exchange; negative regulation of neuron apoptosis; positive regulation of catalytic activity; neuron maturation; dopamine biosynthetic process; regulation of dopamine metabolic process; cellular response to stress; cellular response to extracellular stimulus; central nervous system neuron differentiation; central nervous system projection neuron axonogenesis; response to insecticide; death; gene expression; response to inorganic substance; post-embryonic development; adult locomotory behavior; signal transduction; intracellular receptor mediated signaling pathway | 2q22-q23 |
| NR4A3 | hippocampus development; gene expression; adult behavior; mesoderm formation; organ regeneration; cellular response to stress; steroid hormone mediated signaling pathway; response to peptide hormone stimulus; negative regulation of neuron apoptosis; positive regulation of cell cycle; semicircular canal morphogenesis; neuromuscular process controlling balance; vestibular reflex; positive regulation of leukocyte apoptosis; axon guidance | 9q22 |
| NR5A1 | maintenance of protein location in nucleus; luteinization; cell-cell signaling; primary sex determination; male gonad development; tissue development; cell differentiation; adrenal gland development; intracellular receptor mediated signaling pathway; positive regulation of transcription from RNA polymerase II promoter; negative regulation of female gonad development; positive regulation of male gonad development; regulation of steroid biosynthetic process; gene expression | 9q33 |
| NR5A2 | regulation of cell proliferation; regulation of transcription, DNA-dependent; bile acid metabolic process; embryo development; gene expression; intracellular receptor mediated signaling pathway; homeostatic process; cholesterol homeostasis; positive regulation of viral genome replication; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 1q32.1 |
| NR6A1 | intracellular receptor mediated signaling pathway; gene expression; cell proliferation; spermatogenesis; gamete generation; negative regulation of transcription from RNA polymerase II promoter | 9q33.3 |
| NRADDP | - | 3p21.31 |
| NRAP | - | 10q24-q26 |
| NRARP | negative regulation of Notch signaling pathway; negative regulation of transcription from RNA polymerase II promoter; patterning of blood vessels; positive regulation of endothelial cell proliferation; positive regulation of canonical Wnt receptor signaling pathway; blood vessel endothelial cell proliferation involved in sprouting angiogenesis; multicellular organismal development; regulation of cell-cell adhesion; negative regulation of T cell differentiation | 9q34.3 |
| NRAS | blood coagulation; activation of MAPKK activity; positive regulation of cell proliferation; insulin receptor signaling pathway; visual learning; fibroblast growth factor receptor signaling pathway; actin cytoskeleton organization; regulation of synaptic transmission, GABAergic; positive regulation of Rac protein signal transduction; negative regulation of neuron apoptosis; axon guidance; Ras protein signal transduction; small GTPase mediated signal transduction; epidermal growth factor receptor signaling pathway; signal transduction; MAPK cascade; regulation of long-term neuronal synaptic plasticity; leukocyte migration; striated muscle cell differentiation; nerve growth factor receptor signaling pathway | 1p13.2 |
| NRAV | - | - |
| NRBF2 | gene expression; regulation of transcription, DNA-dependent | 10q21.3 |
| NRBF2P1 | - | 18q12.2 |
| NRBF2P2 | - | 3p |
| NRBF2P3 | - | 1p13.3 |
| NRBF2P4 | - | 8q23.1 |
| NRBF2P5 | - | 10p |
| NRBP1 | gene expression; ER to Golgi vesicle-mediated transport | 2p23 |
| NRBP2 | negative regulation of neuron apoptosis; neuron differentiation; nervous system development; protein phosphorylation | 8q24.3 |
| NRCAM | angiogenesis; axon guidance; axonal fasciculation; synapse assembly; central nervous system development; cell-cell adhesion; regulation of axon extension; clustering of voltage-gated sodium channels; positive regulation of neuron differentiation; neuron migration; axonogenesis | 7q31 |
| NRDC | regulation of endopeptidase activity; positive regulation of membrane protein ectodomain proteolysis; cell migration; cell proliferation; neuromuscular junction development; proteolysis | 1p32.2-p32.1 |
| NRDE2 | - | 14q32.11 |
| NREP | regulation of neuron differentiation; axon regeneration; regulation of transforming growth factor beta receptor signaling pathway | 5q22.1 |
| NRF1 | regulation of transcription from RNA polymerase II promoter; response to electrical stimulus; response to folic acid; response to lipopolysaccharide; response to estradiol stimulus; organ regeneration; response to hypoxia; generation of precursor metabolites and energy; mitochondrion organization | 7q32 |
| NRG1 | regulation of protein homodimerization activity; positive regulation of cardiac muscle cell proliferation; wound healing; mammary gland development; positive regulation of cell growth; neural crest cell development; negative regulation of cardiac muscle cell apoptosis; embryo development; cell proliferation; nervous system development; Notch signaling pathway; activation of transmembrane receptor protein tyrosine kinase activity; transmembrane receptor protein tyrosine kinase signaling pathway; cell communication; anti-apoptosis; positive regulation of protein tyrosine kinase activity; ventricular cardiac muscle cell differentiation; regulation of protein heterodimerization activity; cellular protein complex disassembly; positive regulation of cell adhesion; cardiac muscle cell differentiation; positive regulation of striated muscle cell differentiation; negative regulation of secretion; negative regulation of transcription, DNA-dependent | 8p12 |
| NRG1-IT1 | - | 8p12 |
| NRG2 | signal transduction; embryo development | 5q23-q33 |
| NRG3 | activation of transmembrane receptor protein tyrosine kinase activity; regulation of cell growth | 10q22-q23 |
| NRG3-AS1 | - | 10q23.1 |
| NRG4 | - | 15q24.2 |
| NRGN | nervous system development; signal transduction | 11q24 |
| NRIP1 | lipid storage; negative regulation of transcription from RNA polymerase II promoter; androgen receptor signaling pathway; ovulation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; ovarian follicle rupture | 21q11.2 |
| NRIP3 | proteolysis | 11p15.3 |
| NRK | - | Xq22.3 |
| NRL | response to stimulus; transcription from RNA polymerase II promoter; retinal rod cell development; positive regulation of transcription from RNA polymerase II promoter; visual perception; regulation of rhodopsin gene expression; multicellular organismal development; positive regulation of rhodopsin gene expression | 14q11.1-q11.2 |
| NRM | - | 6p21.33 |
| NRN1 | - | 6p25.1 |
| NRN1L | - | 16q22.1 |
| NRP1 | organ morphogenesis; response to wounding; positive regulation of endothelial cell migration; sympathetic nervous system development; multicellular organismal development; patterning of blood vessels; positive regulation of endothelial cell proliferation; heart development; axonal fasciculation; cell adhesion; signal transduction; hepatocyte growth factor receptor signaling pathway; vascular endothelial growth factor receptor signaling pathway; positive regulation of smooth muscle cell migration; cell-cell signaling; dendrite development; cell migration; trigeminal nerve morphogenesis; cell differentiation; cellular response to hepatocyte growth factor stimulus; semaphorin-plexin signaling pathway; axon guidance; nervous system development; platelet-derived growth factor receptor signaling pathway; dichotomous subdivision of terminal units involved in salivary gland branching; regulation of vesicle-mediated transport; positive regulation of cytokine activity; positive regulation of peptidyl-tyrosine phosphory | 10p12 |
| NRP2 | vascular endothelial growth factor signaling pathway; neural crest cell migration; vascular endothelial growth factor receptor signaling pathway; negative chemotaxis; semaphorin-plexin signaling pathway; positive regulation of endothelial cell migration; angiogenesis; cell differentiation; positive regulation of endothelial cell proliferation; cell adhesion; multicellular organismal development; nervous system development; axon guidance; heart development | 2q33.3 |
| NRROS | - | 3q29 |
| NRSN1 | nervous system development | 6p22.3 |
| NRSN2 | - | 20p13 |
| NRTN | nerve development; neuron projection development; axon guidance; nervous system development; transmembrane receptor protein tyrosine kinase signaling pathway; neural crest cell migration; MAPK cascade | 19p13.3 |
| NRXN1 | regulation of grooming behavior; postsynaptic density protein 95 clustering; positive regulation of excitatory postsynaptic membrane potential; establishment of protein localization; pigmentation; social behavior; adult behavior; neuronal signal transduction; calcium-dependent cell-cell adhesion; learning; axon guidance; synaptic transmission; neuron cell-cell adhesion; heterophilic cell-cell adhesion; cell adhesion; angiogenesis; positive regulation of synaptic transmission, glutamatergic; positive regulation of synapse maturation; positive regulation of establishment of protein localization in plasma membrane; vocalization behavior; face morphogenesis; prepulse inhibition; regulation of N-methyl-D-aspartate selective glutamate receptor activity; neuroligin clustering; receptor localization to synapse; synaptic vesicle clustering; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; postsynaptic membrane assembly; gamma-aminobutyric acid receptor clusteri | 2p16.3 |
| NRXN2 | postsynaptic density protein 95 clustering; cell adhesion; synaptic transmission; neurotransmitter secretion; postsynaptic membrane assembly; gephyrin clustering; neuroligin clustering | 11q13 |
| NRXN3 | axon guidance; cell adhesion; angiogenesis | 14q31 |
| NSA2 | rRNA processing | 5q13.3 |
| NSAP11 | - | 8p22 |
| NSD1 | gastrulation with mouth forming second; positive regulation of transcription, DNA-dependent; histone H4-K20 methylation; histone methylation; negative regulation of transcription from RNA polymerase II promoter; chromatin modification; histone H3-K36 methylation | 5q35 |
| NSDHL | labyrinthine layer blood vessel development; small molecule metabolic process; smoothened signaling pathway; cholesterol biosynthetic process; hair follicle development | Xq28 |
| NSF | plasma membrane fusion; regulation of exocytosis; protein transport; synaptic transmission; exocytosis; potassium ion transport; positive regulation of receptor recycling | 17q21 |
| NSFL1C | - | 20p13 |
| NSFP1 | - | 17q21.31 |
| NSG1 | - | 4p16.3 |
| NSL1 | cell division; mitotic cell cycle; chromosome segregation; mitotic prometaphase; M phase of mitotic cell cycle | 1q41 |
| NSMAF | signal transduction; ceramide metabolic process | 8q12-q13 |
| NSMCE1 | DNA repair; DNA recombination; positive regulation of response to DNA damage stimulus; protein ubiquitination; intracellular signal transduction | 16p12.1 |
| NSMCE2 | cellular senescence; double-strand break repair via nonhomologous end joining; positive regulation of maintenance of mitotic sister chromatid cohesion; positive regulation of mitotic metaphase/anaphase transition; telomere maintenance via recombination; double-strand break repair via homologous recombination; DNA repair; DNA recombination | 8q24.13 |
| NSMCE3 | regulation of growth; positive regulation of protein ubiquitination; regulation of transcription, DNA-dependent | 15q13.1 |
| NSMCE4A | positive regulation of response to DNA damage stimulus | 10q26.13 |
| NSMF | - | 9q34.3 |
| NSRP1 | developmental process; regulation of alternative nuclear mRNA splicing, via spliceosome; RNA splicing; nucleocytoplasmic transport; mRNA processing | 17q11.2 |
| NSUN2 | tRNA methylation; tRNA processing | 5p15.31 |
| NSUN3 | - | 3q11.1 |
| NSUN4 | - | 1p34 |
| NSUN5 | - | 7q11.23 |
| NSUN5P1 | - | 7q11.23 |
| NSUN6 | - | 10p12.31 |
| NSUN7 | - | 4p14 |
| NT5C | dephosphorylation; nucleobase-containing small molecule metabolic process; pyrimidine nucleoside catabolic process; small molecule metabolic process; pyrimidine deoxyribonucleotide catabolic process; nucleotide metabolic process; pyrimidine base metabolic process; purine nucleotide catabolic process; purine base metabolic process | 17q25.1 |
| NT5C2 | nucleobase-containing small molecule metabolic process; small molecule metabolic process; nucleotide metabolic process; purine nucleotide catabolic process; purine base metabolic process | 10q24.32 |
| NT5C3A | - | 7p14.3 |
| NT5C3B | - | 17q21.2 |
| NT5CP2 | - | 14q24.3 |
| NT5DC1 | - | 6q22.1 |
| NT5DC2 | - | 3p21.1 |
| NT5DC3 | - | 12q22-q23.1 |
| NT5DC4 | - | 2q13 |
| NT5E | nucleotide catabolic process; pyrimidine base metabolic process; AMP catabolic process; purine nucleotide catabolic process; purine nucleotide biosynthetic process; DNA metabolic process; purine base metabolic process; nucleobase-containing small molecule metabolic process; dephosphorylation; small molecule metabolic process; adenosine biosynthetic process; pyrimidine nucleoside catabolic process; negative regulation of inflammatory response | 6q14-q21 |
| NT5M | pyrimidine base metabolic process; DNA replication; nucleotide metabolic process; pyrimidine deoxyribonucleotide catabolic process; dUMP catabolic process; pyrimidine nucleoside catabolic process; nucleobase-containing small molecule metabolic process; small molecule metabolic process | 17p11.2 |
| NTAN1 | memory; metabolic process; adult locomotory behavior | 16p13.11 |
| NTAN1P2 | - | - |
| NTF3 | signal transduction; smooth muscle cell differentiation; regulation of synaptic transmission; generation of neurons; neuron development; enteric nervous system development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of glial cell differentiation; negative regulation of neuron apoptosis; myelination; mechanoreceptor differentiation; nerve development; epidermis development; peripheral nervous system development; brain development; axon guidance; glial cell fate determination; nervous system development; neuromuscular synaptic transmission; cell-cell signaling | 12p13 |
| NTF4 | long-term memory; ganglion mother cell fate determination; sensory organ boundary specification; adult locomotory behavior; epidermis development; mechanoreceptor differentiation | 19q13.3 |
| NTHL1 | base-excision repair; depyrimidination; nucleotide-excision repair, DNA incision, 5'-to lesion; base-excision repair, AP site formation; DNA repair | 16p13.3 |
| NTM | neuron recognition; cell adhesion | 11q25 |
| NTMT1 | - | 9q34.11 |
| NTN1 | positive regulation of axon extension; mammary gland duct morphogenesis; apoptotic process; establishment of nucleus localization; mammary gland development; negative regulation of axon extension; regulation of cell migration; cell-cell adhesion; neuron migration; positive regulation of cell proliferation; axon guidance | 17p13-p12 |
| NTN3 | positive regulation of muscle cell differentiation; muscle cell differentiation; axon guidance | 16p13.3 |
| NTN4 | neuron remodeling; axon guidance; regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling | 12q22 |
| NTN5 | - | 19q13.33 |
| NTNG1 | nervous system development; multicellular organismal development; axonogenesis; cell differentiation | 1p13.3 |
| NTNG2 | nervous system development; multicellular organismal development; cell differentiation; axonogenesis | 9q34 |
| NTPCR | - | 1q42.2 |
| NTRK1 | developmental programmed cell death; protein phosphorylation; negative regulation of cell proliferation; nervous system development; multicellular organismal development; activation of MAPKK activity; Ras protein signal transduction; small GTPase mediated signal transduction; activation of phospholipase C activity; activation of adenylate cyclase activity; transmembrane receptor protein tyrosine kinase signaling pathway; cell differentiation; positive regulation of neuron projection development; positive regulation of ERK1 and ERK2 cascade; axonogenesis involved in innervation; positive regulation of NF-kappaB transcription factor activity; sympathetic nervous system development; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; protein autophosphorylation; positive regulation of Ras protein signal transduction; positive regulation of angiogenesis; negative regulation of neuron apoptosis; positive regulation of programmed cell death; positive regulation of Ras GTPase act | 1q21-q22 |
| NTRK2 | positive regulation of MAPK cascade; negative regulation of neuron apoptosis; protein autophosphorylation; nerve growth factor receptor signaling pathway; positive regulation of axonogenesis; regulation of Rac GTPase activity; brain-derived neurotrophic factor receptor signaling pathway; neuron differentiation; cerebral cortex development; central nervous system neuron development; positive regulation of phosphatidylinositol 3-kinase cascade; positive regulation of neuron projection development; positive regulation of cell proliferation; learning; nervous system development; multicellular organismal development; activation of adenylate cyclase activity; transmembrane receptor protein tyrosine kinase signaling pathway; neuron migration; positive regulation of gene expression | 9q22.1 |
| NTRK3 | cell differentiation; nervous system development; mechanoreceptor differentiation; response to ethanol; protein autophosphorylation; neuron fate specification; response to axon injury; positive regulation of axon extension involved in regeneration; negative regulation of astrocyte differentiation; response to corticosterone stimulus; negative regulation of cell death; cellular response to retinoic acid; cochlea development; modulation by virus of host transcription; multicellular organismal development; transmembrane receptor protein tyrosine kinase signaling pathway; response to stress; neuron migration | 15q25 |
| NTS | signal transduction; regulation of blood vessel size | 12q21 |
| NTSR1 | G-protein coupled receptor signaling pathway; synaptic transmission; adult locomotory behavior | 20q13 |
| NUAK1 | regulation of cellular senescence; regulation of cell proliferation; regulation of myosin-light-chain-phosphatase activity; regulation of cell adhesion; response to DNA damage stimulus | 12q23.3 |
| NUAK2 | negative regulation of apoptotic process; cellular response to glucose starvation; actin cytoskeleton organization; protein phosphorylation | 1q32.1 |
| NUB1 | ubiquitin-dependent protein catabolic process; response to tumor necrosis factor; protein ubiquitination; response to interferon-gamma; positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 7q36 |
| NUBP1 | cellular iron ion homeostasis; cell growth; iron-sulfur cluster assembly | 16p13.13 |
| NUBP2 | - | 16p13.3 |
| NUBPL | mitochondrial respiratory chain complex I assembly; mitochondrion morphogenesis | 14q12 |
| NUCB1 | - | 19q13.33 |
| NUCB1-AS1 | - | - |
| NUCB2 | - | 11p15.1 |
| NUCKS1 | - | 1q32.1 |
| NUDC | response to peptide hormone stimulus; cell proliferation; multicellular organismal development; nuclear migration; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; cytokinesis | 1p35-p34 |
| NUDCD1 | - | 8q23 |
| NUDCD2 | - | 5q34 |
| NUDCD3 | - | 7p13-p12 |
| NUDCP2 | - | 2q31 |
| NUDT1 | DNA protection; DNA repair; dGTP catabolic process; purine nucleotide catabolic process; GTP catabolic process; response to oxidative stress | 7p22 |
| NUDT10 | - | Xp11.23 |
| NUDT11 | - | Xp11.22 |
| NUDT12 | NADP catabolic process; NAD catabolic process | 5q21.2 |
| NUDT13 | - | 10q22.1 |
| NUDT14 | - | 14q32.33 |
| NUDT15 | - | 13q14.2 |
| NUDT16 | - | 3q22.1 |
| NUDT16L1 | - | 16p13.3 |
| NUDT16P1 | - | 3q22.1 |
| NUDT17 | - | 1q21.1 |
| NUDT18 | - | 8p21.3 |
| NUDT19 | - | 19q13.11 |
| NUDT2 | induction of apoptosis; nucleobase-containing compound metabolic process | 9p13 |
| NUDT21 | mRNA processing; mRNA polyadenylation; nuclear mRNA splicing, via spliceosome; protein tetramerization; mRNA 3'-end processing; gene expression; RNA splicing; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription | 16q12.2 |
| NUDT22 | - | 11q13.1 |
| NUDT3 | cell-cell signaling; diadenosine polyphosphate catabolic process; diphosphoinositol polyphosphate catabolic process | 6p21.2 |
| NUDT4 | regulation of RNA export from nucleus; cyclic nucleotide metabolic process; intracellular transport; intracellular signal transduction; cyclic-nucleotide-mediated signaling; calcium-mediated signaling | 12q21 |
| NUDT4P1 | - | 1q21.1 |
| NUDT5 | nucleotide metabolic process; D-ribose catabolic process; ribonucleoside diphosphate catabolic process; nucleobase-containing compound metabolic process | 10p14 |
| NUDT6 | - | 4q26 |
| NUDT7 | nucleoside diphosphate metabolic process | 16q23.1 |
| NUDT8 | - | 11q13.2 |
| NUDT9 | IDP catabolic process; ADP catabolic process | 4q22.1 |
| NUDT9P1 | - | 10q23.32 |
| NUF2 | chromosome segregation; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; cell division | 1q23.3 |
| NUFIP1 | box C/D snoRNP assembly; positive regulation of transcription from RNA polymerase II promoter; RNA processing | 13q14 |
| NUFIP1P | - | 6q12 |
| NUFIP2 | - | 17q11.2 |
| NUGGC | - | 8p21.1 |
| NUMA1 | G2/M transition of mitotic cell cycle; mitotic anaphase; establishment of mitotic spindle orientation; mitotic cell cycle; nucleus organization; lung epithelial cell differentiation | 11q13 |
| NUMB | positive regulation of neurogenesis; neuroblast division in subventricular zone; multicellular organismal development; nervous system development; axon guidance; lateral ventricle development | 14q24.3 |
| NUMBL | forebrain development; adherens junction organization; neuroblast division in subventricular zone; lateral ventricle development; protein metabolic process; cytokine-mediated signaling pathway; multicellular organismal development; axonogenesis; positive regulation of neurogenesis; positive regulation of dendrite morphogenesis; neuroblast proliferation; nervous system development | 19q13.13-q13.2 |
| NUP107 | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; protein transport; glucose transport; viral reproduction; regulation of glucose transport; hexose transport; cytokine-mediated signaling pathway; small molecule metabolic process; carbohydrate metabolic process; transport; transmembrane transport; mRNA export from nucleus | 12q15 |
| NUP133 | hexose transport; regulation of glucose transport; protein transport; cytokine-mediated signaling pathway; glucose transport; nuclear pore organization; mRNA export from nucleus; carbohydrate metabolic process; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; viral reproduction; small molecule metabolic process; paraxial mesoderm development; transmembrane transport | 1q42.13 |
| NUP153 | protein transport; carbohydrate metabolic process; hexose transport; glucose transport; regulation of glucose transport; viral reproduction; cytokine-mediated signaling pathway; small molecule metabolic process; interspecies interaction between organisms; mRNA transport; transmembrane transport | 6p22.3 |
| NUP155 | carbohydrate metabolic process; regulation of glucose transport; nucleocytoplasmic transport; hexose transport; small molecule metabolic process; protein transport; glucose transport; viral reproduction; cytokine-mediated signaling pathway; transmembrane transport; mRNA transport | 5p13.1 |
| NUP160 | glucose transport; viral reproduction; mitotic prometaphase; transmembrane transport; small molecule metabolic process; cytokine-mediated signaling pathway; M phase of mitotic cell cycle; mitotic cell cycle; carbohydrate metabolic process; mRNA export from nucleus; hexose transport; regulation of glucose transport; protein transport | 11p11.2 |
| NUP188 | transmembrane transport; glucose transport; viral reproduction; cytokine-mediated signaling pathway; small molecule metabolic process; carbohydrate metabolic process; hexose transport; regulation of glucose transport; protein transport; mRNA transport | 9q34.11 |
| NUP205 | protein import into nucleus, docking; cytokine-mediated signaling pathway; viral reproduction; glucose transport; regulation of glucose transport; protein transport; small molecule metabolic process; transmembrane transport; mRNA transport; hexose transport; nucleocytoplasmic transport; carbohydrate metabolic process | 7q33 |
| NUP210 | protein transport; regulation of glucose transport; hexose transport; carbohydrate metabolic process; glucose transport; viral reproduction; cytokine-mediated signaling pathway; small molecule metabolic process; mRNA transport; transmembrane transport | 3p25.1 |
| NUP210L | - | 1q21.3 |
| NUP210P1 | - | 3q21.3 |
| NUP214 | carbohydrate metabolic process; mRNA export from nucleus; hexose transport; protein export from nucleus; protein import into nucleus; gene expression; regulation of glucose transport; protein transport; glucose transport; viral reproduction; RNA metabolic process; mRNA metabolic process; cytokine-mediated signaling pathway; small molecule metabolic process; regulation of cell cycle; transmembrane transport | 9q34.1 |
| NUP35 | glucose transport; carbohydrate metabolic process; hexose transport; regulation of glucose transport; protein transport; viral reproduction; cytokine-mediated signaling pathway; small molecule metabolic process; mRNA transport; transmembrane transport | 2q32.1 |
| NUP37 | cytokine-mediated signaling pathway; mitotic cell cycle; small molecule metabolic process; viral reproduction; carbohydrate metabolic process; transmembrane transport; cell division; glucose transport; protein transport; mitotic prometaphase; M phase of mitotic cell cycle; mRNA transport; regulation of glucose transport; hexose transport; chromosome segregation | 12q23.2 |
| NUP43 | mitotic prometaphase; mitotic cell cycle; carbohydrate metabolic process; chromosome segregation; protein transport; glucose transport; viral reproduction; cytokine-mediated signaling pathway; regulation of glucose transport; hexose transport; small molecule metabolic process; mRNA transport; cell division; transmembrane transport; M phase of mitotic cell cycle | 6q25.1 |
| NUP50 | protein transport; carbohydrate metabolic process; hexose transport; regulation of glucose transport; glucose transport; viral reproduction; cytokine-mediated signaling pathway; small molecule metabolic process; intracellular transport; transmembrane transport; mRNA transport | 22q13.31 |
| NUP50-AS1 | - | - |
| NUP50P1 | - | 14q23.3 |
| NUP50P3 | - | 5p14 |
| NUP54 | hexose transport; transmembrane transport; mRNA transport; small molecule metabolic process; cytokine-mediated signaling pathway; viral reproduction; glucose transport; protein transport; regulation of glucose transport; protein targeting; carbohydrate metabolic process | 4q21.1 |
| NUP58 | viral reproduction; small molecule metabolic process; mRNA transport; transmembrane transport; nucleocytoplasmic transport; hexose transport; glucose transport; cytokine-mediated signaling pathway; carbohydrate metabolic process; protein transport; regulation of glucose transport | 13q12.13 |
| NUP62 | positive regulation of transcription, DNA-dependent; negative regulation of cell proliferation; cell death; hexose transport; hormone-mediated signaling pathway; carbohydrate metabolic process; cell aging; transmembrane transport; cell surface receptor signaling pathway; transcription, DNA-dependent; mRNA transport; nucleocytoplasmic transport; regulation of Ras protein signal transduction; regulation of signal transduction; negative regulation of Ras protein signal transduction; negative regulation of epidermal growth factor receptor signaling pathway; cytokine-mediated signaling pathway; viral reproduction; regulation of glucose transport; positive regulation of epidermal growth factor receptor signaling pathway; small molecule metabolic process; protein transport; negative regulation of MAP kinase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of programmed cell death; negative regulation of apoptotic process; glucose transport | 19q13.33 |
| NUP62CL | protein transport | Xq22.3 |
| NUP85 | viral reproduction; protein transport; glucose transport; small molecule metabolic process; cytokine-mediated signaling pathway; transmembrane transport; mRNA transport; macrophage chemotaxis; lamellipodium assembly; regulation of glucose transport; hexose transport; chemotaxis; carbohydrate metabolic process; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 17q25.1 |
| NUP88 | glucose transport; transmembrane transport; mRNA transport; small molecule metabolic process; cytokine-mediated signaling pathway; viral reproduction; protein transport; regulation of glucose transport; hexose transport; carbohydrate metabolic process | 17p13.2 |
| NUP93 | hexose transport; small molecule metabolic process; viral reproduction; carbohydrate metabolic process; cytokine-mediated signaling pathway; regulation of glucose transport; protein transport; glucose transport; transmembrane transport; mRNA transport | 16q13 |
| NUP98 | nuclear pore organization; transmembrane transport; mRNA transport; interspecies interaction between organisms; small molecule metabolic process; cytokine-mediated signaling pathway; viral reproduction; glucose transport; protein transport; hexose transport; nucleocytoplasmic transport; DNA replication; carbohydrate metabolic process; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; protein import into nucleus, docking; regulation of glucose transport | 11p15.5 |
| NUPL2 | carbohydrate metabolic process; protein export from nucleus; hexose transport; regulation of glucose transport; protein transport; glucose transport; viral reproduction; cytokine-mediated signaling pathway; small molecule metabolic process; mRNA transport; transmembrane transport | 7p15 |
| NUPR1 | cell growth; induction of apoptosis | 16p11.2 |
| NUS1 | angiogenesis; multicellular organismal development; cell differentiation | 6q22.1 |
| NUS1P1 | - | Xp11.23 |
| NUS1P2 | - | 13q12.12 |
| NUS1P3 | - | 13q12 |
| NUSAP1 | establishment of mitotic spindle localization; cytokinesis after mitosis; positive regulation of mitosis; cell division; mitotic sister chromatid segregation; mitotic chromosome condensation; cell cycle | 15q15.1 |
| NUTF2 | transport; protein export from nucleus; protein import into nucleus | 16q22.1 |
| NUTM1 | - | 15q14 |
| NUTM2A-AS1 | - | 10q23.2 |
| NUTM2B | - | 10q22.3 |
| NUTM2E | - | 10q22.3 |
| NUTM2G | - | 9q22.33 |
| NVL | - | 1q41-q42.2 |
| NWD1 | - | 19p13.11 |
| NWD2 | - | 4p14 |
| NXF1 | mRNA export from nucleus; transport; interspecies interaction between organisms; gene expression; poly(A)+ mRNA export from nucleus | 11q12-q13 |
| NXF2 | - | Xq22.1 |
| NXF3 | mRNA export from nucleus; poly(A)+ mRNA export from nucleus; transport | Xq22 |
| NXF4 | - | Xq22 |
| NXF5 | RNA transport; multicellular organismal development; mRNA export from nucleus; transport | Xq22 |
| NXN | cell differentiation; Wnt receptor signaling pathway; multicellular organismal development | 17p13.3 |
| NXNL2 | - | 9q22.1 |
| NXPE1 | - | 11q23.2 |
| NXPE2 | - | 11q23.3 |
| NXPE3 | - | 3q12.3 |
| NXPE4 | - | 11q23.2 |
| NXPH1 | - | 7p22 |
| NXPH2 | neuropeptide signaling pathway | 2q22.1 |
| NXPH3 | neuropeptide signaling pathway | 17q21.33 |
| NXPH4 | neuropeptide signaling pathway | 12q13.3 |
| NXT1 | protein transport; RNA export from nucleus; protein export from nucleus | 20p12-p11.2 |
| NXT1P1 | - | - |
| NXT2 | mRNA transport; protein transport | Xq23 |
| NYAP2 | - | 2q36.3 |
| NYNRIN | DNA integration | 14q12 |
| NYX | visual perception; response to stimulus | Xp11.4 |
| OACYLP | - | 18q21.32 |
| OAF | - | 11q23.3 |
| OARD1 | - | 6p21.1 |
| OAS1 | negative regulation of viral genome replication; regulation of ribonuclease activity; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; defense response to virus; protein oligomerization; cellular response to interferon-alpha; cytokine-mediated signaling pathway; immune response; purine nucleotide biosynthetic process | 12q24.2 |
| OAS2 | nucleobase-containing compound metabolic process; purine nucleotide biosynthetic process; RNA catabolic process; immune response; cytokine-mediated signaling pathway; interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway | 12q24.2 |
| OAS3 | interferon-gamma-mediated signaling pathway; defense response to virus; negative regulation of viral genome replication; cytokine-mediated signaling pathway; regulation of ribonuclease activity; type I interferon-mediated signaling pathway; nucleobase-containing compound metabolic process; immune response | 12q24.2 |
| OASL | interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway; immune response | 12q24.2 |
| OAT | cellular amino acid biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process; visual perception | 10q26 |
| OAZ1 | small molecule metabolic process; cellular nitrogen compound metabolic process; polyamine biosynthetic process; regulation of cellular amino acid metabolic process | 19p13.3 |
| OAZ2 | small molecule metabolic process; cellular nitrogen compound metabolic process; polyamine metabolic process; regulation of cellular amino acid metabolic process | 15q22.31 |
| OAZ3 | regulation of cellular amino acid metabolic process; spermatogenesis; cellular nitrogen compound metabolic process; small molecule metabolic process | 1q21.3 |
| OBFC1 | telomere maintenance; telomere maintenance via telomere lengthening; positive regulation of DNA replication | 10q24.33 |
| OBP2B | response to stimulus; chemosensory behavior; sensory perception of smell | 9q34 |
| OBSCN | regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; cell differentiation; induction of apoptosis by extracellular signals; multicellular organismal development; small GTPase mediated signal transduction; apoptotic process | 1q42.13 |
| OBSL1 | cytoskeleton organization; cardiac myofibril assembly | 2q35 |
| OC90 | phospholipid metabolic process; lipid catabolic process | 8q24.22 |
| OCA2 | eye pigment biosynthetic process; transmembrane transport; developmental pigmentation; melanin biosynthetic process; melanocyte differentiation; tyrosine transport; cell proliferation; spermatid development; transport | 15q |
| OCEL1 | - | 19p13.11 |
| OCIAD1 | - | 4p11 |
| OCIAD2 | - | 4p11 |
| OCLM | visual perception | 1q25 |
| OCLN | S-adenosylmethionine metabolic process; response to organic cyclic compound; S-adenosylhomocysteine metabolic process; response to testosterone stimulus; cellular component disassembly involved in apoptosis; protein complex assembly; apoptotic process | 5q13.1 |
| OCM | - | 7p22.1 |
| OCR1 | - | 1q32.1 |
| OCRL | phosphatidylinositol dephosphorylation; phosphatidylinositol phosphorylation; regulation of small GTPase mediated signal transduction; lipid metabolic process; signal transduction; small GTPase mediated signal transduction | Xq25 |
| ODAM | biomineral tissue development; odontogenesis of dentin-containing tooth | 4q13.3 |
| ODC1 | polyamine biosynthetic process; positive regulation of cell proliferation; kidney development; regulation of cellular amino acid metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; response to virus; polyamine metabolic process | 2p25 |
| ODCP | - | 7q31-qter |
| ODF2 | G2/M transition of mitotic cell cycle; mitotic cell cycle; multicellular organismal development; spermatogenesis; cell differentiation | 9q34.11 |
| ODF2L | - | 1p22.3 |
| ODF3 | cell differentiation; spermatogenesis; multicellular organismal development | 11p15.5 |
| ODF3B | - | 22q13.33 |
| ODF3L1 | - | 15q24.2 |
| ODF3L2 | - | 19p13.3 |
| ODF4 | multicellular organismal development; spermatogenesis; cell differentiation | 17p13.1 |
| OFCC1 | - | 6p24.3 |
| OFD1 | cilium morphogenesis; G2/M transition of mitotic cell cycle; mitotic cell cycle; mitosis; centriole replication; cilium axoneme assembly; epithelial cilium movement involved in determination of left/right asymmetry; spindle assembly involved in mitosis; cell projection organization | Xp22 |
| OFD1P3Y | - | Yp11.2 |
| OFD1P7Y | - | Yq11.222 |
| OGDH | small molecule metabolic process; oxidation-reduction process; generation of precursor metabolites and energy; glycolysis; tricarboxylic acid cycle; lysine catabolic process; cellular nitrogen compound metabolic process | 7p14-p13 |
| OGDHL | tricarboxylic acid cycle; glycolysis | 10q11.23 |
| OGFOD1 | - | 16q12.2 |
| OGFOD2 | - | 12q24.31 |
| OGFOD3 | - | 17q25.3 |
| OGFR | regulation of cell growth; opioid receptor signaling pathway | 20q13.3 |
| OGFRL1 | - | 6q13 |
| OGFRP1 | - | 22q13.2 |
| OGG1 | DNA repair; depurination; regulation of protein import into nucleus, translocation; response to radiation; response to oxidative stress; regulation of transcription, DNA-dependent; nucleotide-excision repair; base-excision repair, AP site formation; base-excision repair | 3p26.2 |
| OGN | negative regulation of smooth muscle cell proliferation | 9q22 |
| OGT | induction of apoptosis; histone H4-K16 acetylation; histone H4-K8 acetylation; histone H4-K5 acetylation; positive regulation of catalytic activity; protein O-linked glycosylation; positive regulation of proteolysis; phosphatidylinositol-mediated signaling; apoptotic process; signal transduction; response to nutrient; positive regulation of granulocyte differentiation; response to insulin stimulus; regulation of Rac protein signal transduction; cellular response to retinoic acid; protein homotrimerization; regulation of insulin receptor signaling pathway; positive regulation of histone H3-K4 methylation | Xq13 |
| OIP5 | cell division; cell cycle; nucleosome assembly; CenH3-containing nucleosome assembly at centromere; mitosis; cell communication | 15q15.1 |
| OIP5-AS1 | - | 15q15.1 |
| OIT3 | - | 10q22.1 |
| OK/SW-CL.58 | - | 13q12.3 |
| OLA1 | ATP catabolic process | 2q31.1 |
| OLA1P1 | - | 22q13.2 |
| OLFM1 | nervous system development; multicellular organismal development | 9q34.3 |
| OLFM2 | - | 19p13.2 |
| OLFM3 | - | 1p22 |
| OLFM4 | cell adhesion | 13q14.3 |
| OLFML1 | - | 11p15.4 |
| OLFML2A | extracellular matrix organization | 9q33.3 |
| OLFML2B | extracellular matrix organization | 1q23.3 |
| OLFML3 | multicellular organismal development | 1p13.2 |
| OLIG1 | neuron fate commitment; regulation of transcription, DNA-dependent; multicellular organismal development | 21q22.11 |
| OLIG2 | multicellular organismal development; nervous system development; negative regulation of neuron differentiation; negative regulation of transcription from RNA polymerase II promoter; spinal cord oligodendrocyte cell fate specification; myelination; neuron fate commitment; positive regulation of oligodendrocyte differentiation | 21q22.11 |
| OLIG3 | regulation of transcription, DNA-dependent | 6q23.3 |
| OLMALINC | - | 10q24.31 |
| OLR1 | response to hydrogen peroxide; leukocyte migration; lipoprotein metabolic process; proteolysis; inflammatory response; cell death; blood circulation; blood coagulation; leukocyte cell-cell adhesion; cell adhesion | 12p13.2-p12.3 |
| OMA1 | proteolysis | 1p32.2-p32.1 |
| OMD | cell adhesion | 9q22.31 |
| OMG | cell adhesion; neuron projection regeneration; nerve growth factor receptor signaling pathway; regulation of collateral sprouting of intact axon in response to injury; regulation of axonogenesis; negative regulation of axonogenesis | 17q11.2 |
| OMP | neurogenesis; response to stimulus; sensory perception of smell; synaptic transmission; signal transduction | 11q13.5 |
| ONECUT1 | anatomical structure morphogenesis; B cell differentiation; spleen development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; cell fate commitment; cilium assembly; endocrine pancreas development; negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of cell migration; liver development; regulation of cell-matrix adhesion; epithelial cell development; glucose metabolic process; regulation of transcription, DNA-dependent; endoderm development | 15q21.3 |
| ONECUT2 | cilium assembly; cell fate commitment; endocrine pancreas development; positive regulation of transcription from RNA polymerase II promoter; peripheral nervous system neuron development; liver development; organ morphogenesis; epithelial cell development; regulation of cell-matrix adhesion; negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of cell migration | 18q21.31 |
| ONECUT3 | endocrine pancreas development; regulation of transcription from RNA polymerase II promoter | 19p13.3 |
| OOEP | in utero embryonic development; protein phosphorylation; cellular protein complex assembly; embryo implantation; establishment or maintenance of apical/basal cell polarity; fertilization; embryonic pattern specification | 6q13 |
| OPA1 | mitochondrial fission; GTP catabolic process; apoptotic process; axon transport of mitochondrion; mitochondrion organization; inner mitochondrial membrane organization; visual perception; mitochondrial fusion; positive regulation of anti-apoptosis; response to stimulus | 3q28-q29 |
| OPA1-AS1 | - | - |
| OPA3 | response to stimulus; visual perception | 19q13.32 |
| OPALIN | - | 10q23-q24 |
| OPCML | cell adhesion; neuron recognition; opioid receptor signaling pathway | 11q25 |
| OPHN1 | small GTPase mediated signal transduction; regulation of synaptic transmission, glutamatergic; regulation of small GTPase mediated signal transduction; synaptic vesicle endocytosis; filopodium assembly; positive regulation of Rho GTPase activity; regulation of endocytosis; actin cytoskeleton organization; axon guidance; nervous system development; signal transduction; substrate-dependent cell migration, cell extension | Xq12 |
| OPLAH | small molecule metabolic process; glutathione biosynthetic process; xenobiotic metabolic process | 8q24.3 |
| OPN1MW | - | Xq28 |
| OPN1SW | protein-chromophore linkage; phototransduction; visual perception; signal transduction; response to stimulus | 7q32.1 |
| OPN3 | visual perception; G-protein coupled receptor signaling pathway; detection of light stimulus; detection of visible light; phototransduction; response to stimulus; regulation of circadian rhythm; protein-chromophore linkage | 1q43 |
| OPN4 | detection of visible light; phototransduction; protein-chromophore linkage; regulation of circadian rhythm; rhythmic process; response to stimulus; visual perception | 10q22 |
| OPN5 | response to stimulus; protein-chromophore linkage; visual perception; phototransduction | 6p12.3 |
| OPRD1 | inhibition of adenylate cyclase activity by G-protein signaling pathway; cellular response to growth factor stimulus; adult locomotory behavior; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; neuropeptide signaling pathway; negative regulation of calcium ion transport via voltage-gated calcium channel activity; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor signaling pathway; immune response; protein import into nucleus, translocation; regulation of sensory perception of pain | 1p36.1-p34.3 |
| OPRK1 | immune response; inhibition of adenylate cyclase activity by G-protein signaling pathway; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; synaptic transmission; sensory perception; behavior; viral genome replication | 8q11.2 |
| OPRL1 | sensory perception; elevation of cytosolic calcium ion concentration; inhibition of adenylate cyclase activity by G-protein signaling pathway; G-protein coupled receptor signaling pathway | 20q13.33 |
| OPRM1 | regulation of N-methyl-D-aspartate selective glutamate receptor activity; locomotory behavior; cellular response to morphine; positive regulation of ERK1 and ERK2 cascade; negative regulation of Wnt protein secretion; negative regulation of calcium ion transport via voltage-gated calcium channel activity; reduction of cytosolic calcium ion concentration; regulation of behavior; positive regulation of neurogenesis; behavioral response to ethanol; positive regulation of nitric oxide biosynthetic process; negative regulation of nitric oxide biosynthetic process; negative regulation of cAMP-mediated signaling; positive regulation of cAMP-mediated signaling; cellular response to stress; sensory perception of pain; negative regulation of cell proliferation; G-protein signaling, coupled to cyclic nucleotide second messenger; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; negative regulation of adenylate cyclase activity; elevation of cy | 6q24-q25 |
| OPTC | - | 1q32.1 |
| OPTN | signal transduction; Golgi organization; protein targeting to Golgi; cell death; cellular protein localization; Golgi ribbon formation; Golgi to plasma membrane protein transport | 10p13 |
| OR10A3 | detection of chemical stimulus involved in sensory perception of smell; response to stimulus; sensory perception of smell | 11p15.4 |
| OR10A6 | response to stimulus | 11p15.4 |
| OR10AA1P | - | 1q23.1 |
| OR10AD1 | response to stimulus | 12q13.11 |
| OR10AF1P | - | 11q12 |
| OR10AH1P | - | 7p22.1 |
| OR10B1P | - | 19p13.12 |
| OR10D3 | response to stimulus | 11q24.2 |
| OR10D4P | response to stimulus | 11q24.2 |
| OR10D5P | - | 11q24.2 |
| OR10G4 | response to stimulus | 11q24.1 |
| OR10G6 | response to stimulus | 11q24.1 |
| OR10G9 | response to stimulus | 11q24.1 |
| OR10J3 | response to stimulus | 1q23.2 |
| OR10J6P | response to stimulus | 1q23.2 |
| OR10J8P | - | 1q23.2 |
| OR10Q2P | - | 11q12.1 |
| OR10R2 | response to stimulus | 1q23.1 |
| OR10R3P | - | 1q23.1 |
| OR10S1 | response to stimulus | 11q24.1 |
| OR10V7P | - | 14q21.1 |
| OR10W1 | response to stimulus | 11q12.1 |
| OR10Y1P | - | 11q12.1 |
| OR10Z1 | response to stimulus | 1q23.1 |
| OR11H2 | response to stimulus | 14q11.2 |
| OR11H3P | - | 15q11.2 |
| OR11H4 | response to stimulus | 14q11.2 |
| OR11J2P | - | 15q11.2 |
| OR11J5P | - | 15q11.2 |
| OR11K1P | - | 15q11.2 |
| OR11N1P | - | Xq26.2 |
| OR12D3 | response to stimulus | 6p22.1 |
| OR13C2 | response to stimulus | 9q31.1 |
| OR13C4 | response to stimulus | 9q31.1 |
| OR13C5 | response to stimulus | 9q31.1 |
| OR13C6P | - | 9p13.3 |
| OR13C7P | - | 9p13.3 |
| OR13C8 | response to stimulus | 9q31.1 |
| OR13J1 | response to stimulus | 9p13.3 |
| OR13Z1P | - | 1q21.1 |
| OR14A16 | response to stimulus | 1q44 |
| OR14A2 | response to stimulus | 1q44 |
| OR14C36 | response to stimulus | 1q44 |
| OR14I1 | response to stimulus | 1q44 |
| OR14K1 | - | 1q44 |
| OR1AB1P | - | 19p13.12 |
| OR1B1 | response to stimulus | 9q33.2 |
| OR1D5 | detection of chemical stimulus involved in sensory perception of smell; G-protein coupled receptor signaling pathway; sensory perception of smell; response to stimulus | 17p13.3 |
| OR1F1 | signal transduction; response to stimulus | 16p13.3 |
| OR1F12 | response to stimulus | 6p21.3 |
| OR1F2P | response to stimulus | 16p13.3 |
| OR1G1 | signal transduction; response to stimulus | 17p13.3 |
| OR1H1P | - | 9q33.2 |
| OR1I1 | response to stimulus | 19p13.12 |
| OR1J2 | response to stimulus | 9q34.11 |
| OR1M1 | response to stimulus | 19p13.2 |
| OR1N1 | response to stimulus | 9q33.2 |
| OR1N2 | response to stimulus | 9q33.2 |
| OR1R1P | - | 17p13.3 |
| OR1S1 | response to stimulus | 11q12.1 |
| OR2A20P | - | 7q35 |
| OR2A25 | response to stimulus | 7q35 |
| OR2A3P | - | 7q35 |
| OR2A4 | response to stimulus | 6q23 |
| OR2A7 | response to stimulus | 7q35 |
| OR2AD1P | - | 6p22.1 |
| OR2AF1P | - | Xq26.2 |
| OR2AG1 | response to stimulus | 11p15.4 |
| OR2AG2 | response to stimulus | 11p15.4 |
| OR2AJ1 | response to stimulus | 1q44 |
| OR2AK2 | response to stimulus | 1q44 |
| OR2AO1P | - | 7q35 |
| OR2AP1 | response to stimulus | 12q13.2 |
| OR2B11 | response to stimulus | 1q44 |
| OR2B3 | response to stimulus | 6p22.1 |
| OR2B6 | response to stimulus | 6p21.3 |
| OR2B8P | response to stimulus | 6p21.3 |
| OR2C3 | response to stimulus | 1q44 |
| OR2D2 | sensory perception of smell; response to stimulus; detection of chemical stimulus involved in sensory perception of smell | 11p15.4 |
| OR2E1P | - | 6p22-p21.3 |
| OR2F1 | response to stimulus; signal transduction | 7q35 |
| OR2G1P | - | 6p22.2-p21.32 |
| OR2G2 | response to stimulus | 1q44 |
| OR2G3 | response to stimulus | 1q44 |
| OR2H1 | response to stimulus | 6p21.32 |
| OR2H2 | defense response; mating; response to stimulus; detection of chemical stimulus involved in sensory perception of smell | 6p21.3 |
| OR2I1P | response to stimulus | 6p22.1 |
| OR2J2 | response to stimulus | 6p22.2-p21.31 |
| OR2L13 | response to stimulus | 1q44 |
| OR2L1P | - | 1q44 |
| OR2L2 | response to stimulus | 1q44 |
| OR2L3 | response to stimulus | 1q44 |
| OR2L5 | response to stimulus | 1q44 |
| OR2L8 | response to stimulus | 1q44 |
| OR2L9P | - | 1q44 |
| OR2M2 | response to stimulus | 1q44 |
| OR2N1P | - | 6p22.2-p21.31 |
| OR2Q1P | - | 7q35 |
| OR2S1P | - | 9p13.3 |
| OR2T1 | response to stimulus | 1q44 |
| OR2T10 | response to stimulus | 1q44 |
| OR2T11 | response to stimulus | 1q44 |
| OR2T27 | response to stimulus | 1q44 |
| OR2T29 | response to stimulus | 1q44 |
| OR2T6 | response to stimulus | 1q44 |
| OR2T8 | response to stimulus | 1q44 |
| OR2U1P | - | 6p22.2-p21.32 |
| OR2V1 | response to stimulus | 5q35.3 |
| OR2W2P | - | 6p22.1 |
| OR2W3 | response to stimulus | 1q44 |
| OR2W4P | - | 6p22.1 |
| OR2W5 | response to stimulus | 1q44 |
| OR2W6P | response to stimulus | 6p22.1 |
| OR3B1P | - | Xq28 |
| OR4A11P | - | 11q11 |
| OR4A12P | - | 11q11 |
| OR4A13P | - | 11q11 |
| OR4A16 | response to stimulus | 11q11 |
| OR4A17P | - | 11q11 |
| OR4A40P | - | 11p11.2 |
| OR4A44P | - | 11p11.2 |
| OR4A45P | - | 11p11.2 |
| OR4A46P | - | 11p11.2 |
| OR4A50P | - | 11q11 |
| OR4A6P | - | 11p11.12 |
| OR4A7P | - | 11p11.12 |
| OR4A8P | response to stimulus | 11p11.12 |
| OR4B1 | response to stimulus | 11p11.2 |
| OR4C10P | - | 11p11.2 |
| OR4C11 | response to stimulus | 11q11 |
| OR4C12 | response to stimulus | 11p11.12 |
| OR4C13 | response to stimulus | 11p11.12 |
| OR4C15 | response to stimulus | 11q11 |
| OR4C1P | - | 11q11 |
| OR4C2P | - | 11p11.2 |
| OR4C46 | response to stimulus | 11p11.12 |
| OR4C49P | - | - |
| OR4C4P | - | 11q12.1 |
| OR4C50P | - | 11p11.12 |
| OR4D10 | response to stimulus | 11q12.1 |
| OR4D2 | response to stimulus | 17q22 |
| OR4E2 | response to stimulus | 14q11.2 |
| OR4F13P | - | 15q26.3 |
| OR4F14P | - | 15q26.3 |
| OR4F15 | response to stimulus | 15q26.3 |
| OR4F2P | - | 11p15.5 |
| OR4F3 | - | 5q35.3 |
| OR4F4 | response to stimulus | 15q26.3 |
| OR4H6P | - | 15q11.2 |
| OR4K11P | - | 21q11.1 |
| OR4K16P | - | 14q11.2 |
| OR4K4P | - | 14q11.2 |
| OR4K5 | response to stimulus | 14q11.2 |
| OR4L1 | response to stimulus | 14q11.2 |
| OR4N3P | - | 15q11.2 |
| OR4N4 | response to stimulus | 15q11.2 |
| OR4Q1P | - | 15q11.2 |
| OR4Q3 | response to stimulus | 14q11.2 |
| OR4T1P | - | 14q11.2 |
| OR4U1P | - | 14q11.2 |
| OR4X1 | response to stimulus | 11p11.2 |
| OR4X2 | response to stimulus | 11p11.2 |
| OR4X7P | - | 11q11 |
| OR51A10P | - | 11p15.4 |
| OR51A4 | response to stimulus | 11p15.4 |
| OR51A6P | - | 11p15.4 |
| OR51A7 | response to stimulus | 11p15.4 |
| OR51A8P | - | 11p15.4 |
| OR51A9P | - | 11p15.4 |
| OR51B2 | detection of chemical stimulus involved in sensory perception of smell; response to stimulus; sensory perception of smell | 11p15 |
| OR51B3P | - | 11p15.4 |
| OR51B4 | sensory perception of smell; response to stimulus; detection of chemical stimulus involved in sensory perception of smell | 11p15 |
| OR51B5 | sensory perception of smell; response to stimulus; detection of chemical stimulus involved in sensory perception of smell | 11p15.4 |
| OR51B6 | detection of chemical stimulus involved in sensory perception of smell; response to stimulus; sensory perception of smell | 11p15.4 |
| OR51B8P | - | 11p15.4 |
| OR51C4P | - | 11p15.4 |
| OR51D1 | response to stimulus | 11p15.4 |
| OR51E1 | response to stimulus | 11p15.4 |
| OR51E2 | sensory perception of smell; detection of chemical stimulus involved in sensory perception of smell; response to stimulus | 11p15 |
| OR51F1 | response to stimulus | 11p15.4 |
| OR51F3P | - | 11p15.4 |
| OR51H1P | response to stimulus | 11p15.4 |
| OR51I1 | detection of chemical stimulus involved in sensory perception of smell; response to stimulus; sensory perception of smell | 11p15.4 |
| OR51K1P | - | 11p15.4 |
| OR51L1 | response to stimulus | 11p15.4 |
| OR51M1 | response to stimulus; detection of chemical stimulus involved in sensory perception of smell; sensory perception of smell | 11p15.4 |
| OR51N1P | - | 11p15.4 |
| OR51R1P | - | 11p15.4 |
| OR52A1 | response to stimulus; sensory perception of smell; signal transduction | 11p15.5 |
| OR52B3P | - | 11p15.4 |
| OR52B4 | response to stimulus | 11p15.4 |
| OR52B6 | response to stimulus | 11p15.4 |
| OR52E2 | response to stimulus | 11p15.4 |
| OR52E3P | - | 11p15.4 |
| OR52E6 | response to stimulus | 11p15.4 |
| OR52E8 | response to stimulus | 11p15.4 |
| OR52H2P | - | 11p15.4 |
| OR52I2 | response to stimulus | 11p15.4 |
| OR52J2P | - | 11p15.4 |
| OR52K3P | - | 11p15.4 |
| OR52L1 | response to stimulus | 11p15.4 |
| OR52L2P | response to stimulus | 11p15.4 |
| OR52M1 | response to stimulus | 11p15.4 |
| OR52N1 | response to stimulus | 11p15.4 |
| OR52N3P | - | 11p15.4 |
| OR52N5 | response to stimulus | 11p15.4 |
| OR52P1P | response to stimulus | 11p15.4 |
| OR52S1P | - | 11p15.4 |
| OR52V1P | - | 11p15.4 |
| OR52W1 | response to stimulus | 11p15.4 |
| OR55B1P | - | 11p15.4 |
| OR56A1 | response to stimulus | 11p15.4 |
| OR56B1 | response to stimulus | 11p15.4 |
| OR56B4 | response to stimulus | 11p15.4 |
| OR5AH1P | - | 19q13.43 |
| OR5AP1P | - | 11q12.1 |
| OR5AW1P | - | Xq26.2 |
| OR5AZ1P | - | 11q12.1 |
| OR5B21 | response to stimulus | 11q12.1 |
| OR5BH1P | - | Xq26.2 |
| OR5BJ1P | - | 12q13.11 |
| OR5BQ1P | - | 11q12.1 |
| OR5C1 | response to stimulus | 9q33.2 |
| OR5D17P | - | 11q11 |
| OR5D2P | - | 11q12 |
| OR5E1P | - | 11p15.4 |
| OR5F2P | - | 11q12.1 |
| OR5G3 | - | 11q12.1 |
| OR5H1 | response to stimulus | 3q11.2 |
| OR5H14 | response to stimulus | 3q12.1 |
| OR5H2 | response to stimulus | 3q12.1 |
| OR5H3P | - | 3q12.1 |
| OR5H4P | - | 3q12.1 |
| OR5H7P | - | 3q12.1 |
| OR5J2 | response to stimulus | 11q11 |
| OR5J7P | - | 11q |
| OR5L2 | response to stimulus | 11q11 |
| OR5M12P | - | 11q12.1 |
| OR5M13P | - | 11q12.1 |
| OR5M3 | response to stimulus | 11q12.1 |
| OR5M4P | - | 11q12.1 |
| OR5M6P | - | 11q12.1 |
| OR5M8 | response to stimulus | 11q12.1 |
| OR5P1P | - | 11p15.4 |
| OR5P2 | response to stimulus | 11p15.4 |
| OR5P3 | response to stimulus | 11p15.4 |
| OR5R1 | response to stimulus | 11q12.1 |
| OR5S1P | - | 2q37.3 |
| OR5T1 | response to stimulus | 11q12.1 |
| OR5T2 | response to stimulus | 11q12.1 |
| OR5T3 | response to stimulus | 11q12.1 |
| OR5V1 | response to stimulus | 6p22.1 |
| OR6B2 | response to stimulus | 2q37.3 |
| OR6C1 | response to stimulus | 12q13.2 |
| OR6C6 | response to stimulus | 12q13.2 |
| OR6C69P | - | 12q13.2 |
| OR6C70 | response to stimulus | 12q13.2 |
| OR6C72P | - | 12q13.2 |
| OR6E1P | - | 14q11.2 |
| OR6F1 | response to stimulus | 1q44 |
| OR6J1 | response to stimulus | 14q11.2 |
| OR6K6 | response to stimulus | 1q23.1 |
| OR6M2P | - | 11q24.1 |
| OR6N2 | response to stimulus | 1q23.1 |
| OR6S1 | response to stimulus | 14q11.2 |
| OR6W1P | - | 7q34 |
| OR6X1 | response to stimulus | 11q24.1 |
| OR7A15P | - | 19p13.1 |
| OR7A19P | - | 12q13.11 |
| OR7A1P | - | 19p13.12 |
| OR7A2P | response to stimulus | 19p13.12 |
| OR7A5 | sensory perception of smell; response to stimulus; detection of chemical stimulus involved in sensory perception of smell | 19p13.1 |
| OR7D2 | regulation of transcription, DNA-dependent; response to stimulus | 19p13.2 |
| OR7E108P | - | 9q22.2 |
| OR7E109P | - | 9q22.2 |
| OR7E111P | - | 13q21.32 |
| OR7E115P | - | 10p13 |
| OR7E117P | - | 11p15.4 |
| OR7E121P | - | 3p12.3 |
| OR7E126P | - | 11q13.4 |
| OR7E12P | - | 11p15 |
| OR7E140P | - | 12p13.31 |
| OR7E149P | - | 12p13.31 |
| OR7E14P | - | 11p15.1 |
| OR7E154P | - | 8p23 |
| OR7E156P | - | 13q21.31 |
| OR7E157P | - | 8p23 |
| OR7E158P | - | 8p23.1 |
| OR7E15P | - | 8p23.1 |
| OR7E161P | - | 8p23.1 |
| OR7E162P | - | 4p16.3 |
| OR7E16P | - | 19p13.2 |
| OR7E18P | - | 19p13.2 |
| OR7E19P | - | 19p13.2 |
| OR7E1P | - | 11q13.2 |
| OR7E22P | - | 3p13 |
| OR7E24 | response to stimulus | 19p13.2 |
| OR7E26P | - | 10p13 |
| OR7E37P | - | - |
| OR7E38P | - | 7q21.3 |
| OR7E47P | - | 12q13.13 |
| OR7E55P | - | 3p12.3 |
| OR7E62P | - | 2p13.3 |
| OR7E7P | - | 7q21.3 |
| OR7E83P | - | 4p16.1 |
| OR7E85P | - | 4p16.1 |
| OR7E8P | - | 8p23.1 |
| OR7E90P | - | 2q24.1 |
| OR7E91P | - | 2p13.3 |
| OR7E94P | - | 4q21.21 |
| OR7H1P | - | 19p13.2 |
| OR7M1P | - | 10q26.3 |
| OR8A1 | response to stimulus | 11q24.2 |
| OR8A2P | - | 11q24.2 |
| OR8A3P | - | 11q |
| OR8B10P | - | 11q24.2 |
| OR8B12 | response to stimulus | 11q24.2 |
| OR8B5P | - | 11q25 |
| OR8B9P | - | 11q24.2 |
| OR8C1P | - | 11q24.2 |
| OR8D1 | response to stimulus | 11q24.2 |
| OR8D4 | response to stimulus | 11q24.1 |
| OR8F1P | - | 11q24.2 |
| OR8G1 | detection of chemical stimulus involved in sensory perception of smell; response to stimulus; sensory perception of smell | 11q24.2 |
| OR8G2 | sensory perception of smell; response to stimulus; detection of chemical stimulus involved in sensory perception of smell | 11q24.2 |
| OR8G3P | - | 11q24.2 |
| OR8G5 | response to stimulus | 11q24.2 |
| OR8H3 | response to stimulus | 11q12.1 |
| OR8J2 | response to stimulus | 11q12.1 |
| OR8J3 | response to stimulus | 11q12.1 |
| OR8K1 | response to stimulus | 11q12.1 |
| OR8S1 | response to stimulus | 12q13.11 |
| OR8U1 | response to stimulus | 11q12.1 |
| OR9A1P | response to stimulus | 7q34 |
| OR9A2 | response to stimulus | 7q34 |
| OR9G1 | response to stimulus | 11q12.1 |
| OR9G3P | - | 11q12.1 |
| OR9H1P | - | 1q44 |
| OR9I2P | - | 11q12.1 |
| OR9N1P | - | 7q34 |
| OR9R1P | - | 12q13.2 |
| ORAI1 | blood coagulation; ion transport; positive regulation of calcium ion transport; regulation of calcium ion transport | 12q24.31 |
| ORAI2 | - | 7q22.1 |
| ORAI3 | - | 16p11.2 |
| ORAOV1 | - | 11q13.3 |
| ORAOV1P1 | - | - |
| ORC1 | G1/S transition of mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; S phase of mitotic cell cycle; cell cycle checkpoint; M/G1 transition of mitotic cell cycle; mitotic cell cycle; DNA replication; DNA-dependent DNA replication initiation | 1p32 |
| ORC2 | DNA-dependent DNA replication initiation; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; M/G1 transition of mitotic cell cycle; mitotic cell cycle; DNA replication | 2q33 |
| ORC3 | cell cycle checkpoint; DNA replication; mitotic cell cycle; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle | 6q14.3-q16.1 |
| ORC4 | S phase of mitotic cell cycle; M/G1 transition of mitotic cell cycle; mitotic cell cycle; DNA replication; DNA-dependent DNA replication initiation; G1/S transition of mitotic cell cycle; cell cycle checkpoint | 2q22-q23 |
| ORC5 | DNA replication; DNA-dependent DNA replication initiation; mitotic cell cycle; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint | 7q22.1 |
| ORC6 | DNA replication; mitotic cell cycle; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint | 16q12 |
| ORM1 | regulation of immune system process; transport; acute-phase response; inflammatory response | 9q31-q32 |
| ORMDL1 | ceramide metabolic process | 2q32 |
| ORMDL2 | ceramide metabolic process | 12q13.2 |
| ORMDL3 | ceramide metabolic process | 17q12 |
| OS9 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; response to endoplasmic reticulum stress; ER-associated protein catabolic process; protein ubiquitination; protein retention in ER lumen | 12q13 |
| OSBP | lipid transport; transport | 11q12-q13 |
| OSBP2 | transport; lipid transport | 22q12.2 |
| OSBPL10 | lipid transport; transport | 3p22.3 |
| OSBPL11 | lipid transport; transport | 3q21 |
| OSBPL1A | vesicle-mediated transport; lipid transport; cholesterol metabolic process | 18q11.1 |
| OSBPL2 | lipid transport; transport | 20q13.3 |
| OSBPL3 | transport; lipid transport | 7p15 |
| OSBPL5 | cholesterol transport; cholesterol metabolic process; Golgi to plasma membrane transport; lipid transport; transport | 11p15.4 |
| OSBPL6 | lipid transport; transport | 2q32.1 |
| OSBPL7 | transport; lipid transport | 17q21 |
| OSBPL8 | transport; lipid transport | 12q14 |
| OSBPL9 | transport; lipid transport | 1p32.3 |
| OSBPL9P2 | - | 11q14.3 |
| OSCAR | - | 19q13.42 |
| OSCP1 | transport | 1p34.3 |
| OSER1 | - | 20q13.11 |
| OSER1-AS1 | - | - |
| OSGEP | proteolysis; tRNA processing | 14q11.2 |
| OSGEPL1 | proteolysis; tRNA processing | 2q32.2 |
| OSGIN1 | regulation of growth; negative regulation of cell growth; cell differentiation; multicellular organismal development | 16q23.3 |
| OSGIN2 | meiosis; germ cell development | 8q21 |
| OSM | positive regulation of peptidyl-serine phosphorylation; positive regulation of cell division; positive regulation of peptidyl-tyrosine phosphorylation; behavioral response to pain; negative regulation of hormone secretion; positive regulation of transcription from RNA polymerase II promoter; negative regulation of meiosis; positive regulation of MAPK cascade; tyrosine phosphorylation of Stat1 protein; tyrosine phosphorylation of Stat5 protein; tyrosine phosphorylation of Stat3 protein; regulation of growth; response to heat; negative regulation of cell proliferation; positive regulation of cell proliferation; cell proliferation; peripheral nervous system development; multicellular organismal development; immune response; apoptotic process; positive regulation of acute inflammatory response | 22q12.2 |
| OSMR | response to cytokine stimulus; positive regulation of cell proliferation; cell proliferation; cell surface receptor signaling pathway; positive regulation of acute inflammatory response | 5p13.1 |
| OSMR-AS1 | - | 5q15 |
| OSR1 | negative regulation of transcription from RNA polymerase II promoter; metanephric interstitial cell development; heart development; specification of posterior mesonephric tubule identity; mesonephric duct morphogenesis; negative regulation of nephron tubule epithelial cell differentiation; renal vesicle progenitor cell differentiation; ureter urothelium development; metanephric epithelium development; metanephric smooth muscle tissue development; metanephric nephron tubule development; metanephric glomerulus vasculature development; gonad development; pattern specification involved in metanephros development; embryonic skeletal joint development; metanephric cap mesenchymal cell proliferation involved in metanephros development; positive regulation of gastrulation; regulation of transcription, DNA-dependent; chondrocyte differentiation; mesonephros development; ureteric bud development; urogenital system development; specification of anterior mesonephric tubule identity; cell differentiation; positive regulat | 2p24.1 |
| OSR2 | negative regulation of transcription from RNA polymerase II promoter; embryonic skeletal joint development; metanephros development; mesonephros development; chondrocyte differentiation; positive regulation of cell proliferation; embryo development; positive regulation of gene expression; cell differentiation; positive regulation of bone mineralization; osteoblast proliferation; embryonic forelimb morphogenesis; embryonic hindlimb morphogenesis; embryonic skeletal limb joint morphogenesis; middle ear morphogenesis; odontogenesis; embryonic digit morphogenesis; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; embryonic skeletal system morphogenesis; positive regulation of epithelial cell proliferation; palate development; embryonic skeletal joint morphogenesis; head development; bone morphogenesis; eyelid development in camera-type eye | 8q22.2 |
| OST4 | - | 2p23.3 |
| OSTC | protein N-linked glycosylation via asparagine | 4q25 |
| OSTCP1 | - | 6q25.3 |
| OSTCP2 | - | 1p36.11 |
| OSTCP4 | - | 4q25 |
| OSTCP5 | - | - |
| OSTCP8 | - | - |
| OSTF1 | ossification; signal transduction | 9q13-q21.2 |
| OSTF1P1 | - | 12q24.1-q24.2 |
| OSTM1 | osteoclast differentiation | 6q21 |
| OSTN | negative regulation of osteoblast differentiation; ossification; multicellular organismal development; cell differentiation | 3q28 |
| OTC | response to insulin stimulus; cellular nitrogen compound metabolic process; citrulline biosynthetic process; response to nutrient levels; response to biotin; response to drug; small molecule metabolic process; anion homeostasis; protein homotrimerization; response to zinc ion; cellular amino acid biosynthetic process; midgut development; ornithine metabolic process; arginine biosynthetic process; liver development; urea cycle | Xp21.1 |
| OTOA | sensory perception of sound | 16p12.2|16p12.2 |
| OTOF | synaptic vesicle exocytosis; cellular membrane fusion; sensory perception of sound | 2p23.1 |
| OTOG | L-arabinose metabolic process | 11p15.1 |
| OTOGL | - | 12q21.31 |
| OTOL1 | - | 3q26.1 |
| OTOP1 | biomineral tissue development | 4p16.3 |
| OTOP2 | - | 17q25.1 |
| OTOP3 | - | 17q25.1 |
| OTOR | cartilage condensation; sensory perception of sound | 20p12.1-p11.23 |
| OTOS | sensory perception of sound | 2q37.3 |
| OTP | positive regulation of neuroblast proliferation; multicellular organismal development; nervous system development; forebrain neuron differentiation; hypothalamus cell differentiation; neurohypophysis development | 5q13.3 |
| OTUB2 | protein deubiquitination; protein K63-linked deubiquitination; protein K48-linked deubiquitination; cellular amino acid metabolic process; proteolysis | 14q32.12 |
| OTUD1 | - | 10p12.2 |
| OTUD3 | - | 1p36.13 |
| OTUD4 | - | 4q31.21 |
| OTUD5 | proteolysis; negative regulation of type I interferon production; response to lipopolysaccharide; innate immune response; protein K63-linked deubiquitination; protein K48-linked deubiquitination | Xp11.23 |
| OTUD6B | - | 8q21.3 |
| OTUD7A | proteolysis | 15q13.3 |
| OTUD7B | negative regulation of I-kappaB kinase/NF-kappaB cascade; protein deubiquitination; proteolysis | 1q21.2 |
| OTULIN | - | 5p15.2 |
| OTX1 | multicellular organismal development; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; anterior/posterior pattern specification; forebrain development; midbrain development; inner ear morphogenesis | 2p13 |
| OTX2 | regulation of fibroblast growth factor receptor signaling pathway; positive regulation of gastrulation; primitive streak formation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of embryonic development; midbrain development; forebrain development; regulation of smoothened signaling pathway; axon guidance; multicellular organismal development; protein complex assembly; regulation of transcription, DNA-dependent | 14q22.3 |
| OTX2-AS1 | - | - |
| OVAAL | - | 1q25.3 |
| OVCA2 | response to retinoic acid | 17p13.3 |
| OVCH1 | proteolysis | 12p11.22 |
| OVCH1-AS1 | - | 12p |
| OVCH2 | proteolysis | 11p15.4 |
| OVGP1 | carbohydrate metabolic process; chitin catabolic process; single fertilization; female pregnancy | 1p13 |
| OVOL1 | skin development; pachytene; kidney development; regulation of transcription, DNA-dependent; spermatogenesis; mesoderm development | 11q13 |
| OVOL2 | positive regulation of transcription, DNA-dependent; labyrinthine layer blood vessel development; heart trabecula formation; endocardium formation; regulation of cell cycle; embryonic digestive tract morphogenesis; angiogenesis; negative regulation of transcription, DNA-dependent; negative regulation of Notch signaling pathway; negative regulation of keratinocyte differentiation; negative regulation of transcription by competitive promoter binding; regulation of keratinocyte proliferation; dorsal/ventral pattern formation; negative regulation of cell proliferation; heart development; heart looping; neural fold formation; neural crest cell migration | 20pter-q11.23 |
| OVOS | - | 12p13 |
| OVOS2 | - | 12p11.21 |
| OXA1L | protein complex assembly; mitochondrial respiratory chain complex I biogenesis; oxidation-reduction process; negative regulation of oxidoreductase activity; protein tetramerization; protein insertion into membrane; mitochondrial proton-transporting ATP synthase complex assembly; mitochondrial respiratory chain complex I assembly; negative regulation of ATPase activity; aerobic respiration | 14q11.2 |
| OXCT1 | small molecule metabolic process; cellular lipid metabolic process; response to ethanol; cellular ketone body metabolic process; ketone body catabolic process; adipose tissue development; cellular response to acid; cellular response to glucose stimulus; response to starvation; response to drug; positive regulation of insulin secretion; response to activity; response to hormone stimulus; response to nutrient; heart development; brain development | 5p13.1 |
| OXCT1-AS1 | - | - |
| OXCT2 | metabolic process; ketone body catabolic process | 1p34 |
| OXER1 | G-protein coupled receptor signaling pathway; regulation of cAMP biosynthetic process | 2p21 |
| OXGR1 | G-protein coupled receptor signaling pathway | 13q32.1 |
| OXLD1 | - | 17q25.3 |
| OXNAD1 | - | 3p25-p24 |
| OXR1 | response to oxidative stress; cell wall macromolecule catabolic process | 8q23 |
| OXSM | acyl-CoA metabolic process; medium-chain fatty acid biosynthetic process; short-chain fatty acid biosynthetic process | 3p24.2 |
| OXSR1 | protein phosphorylation; response to oxidative stress; intracellular protein kinase cascade | 3p22.2 |
| OXT | eating behavior; response to electrical stimulus; response to estradiol stimulus; response to retinoic acid; response to progesterone stimulus; response to prostaglandin E stimulus; social behavior; negative regulation of urine volume; positive regulation of renal sodium excretion; response to cocaine; hyperosmotic salinity response; maternal behavior; sperm ejaculation; regulation of sensory perception of pain; drinking behavior; response to peptide hormone stimulus; regulation of digestive system process; response to ether; negative regulation of blood pressure; positive regulation of blood pressure; positive regulation of ossification; positive regulation of female receptivity; positive regulation of synaptic transmission; response to glucocorticoid stimulus; response to cAMP; positive regulation of prostaglandin secretion; positive regulation of uterine smooth muscle contraction; negative regulation of gastric acid secretion; positive regulation of hindgut contraction; positive regulation of penile erecti | 20p13 |
| OXTR | regulation of digestive system process; response to organic cyclic compound; positive regulation of blood pressure; digestive tract development; positive regulation of synapse assembly; positive regulation of synaptic transmission, glutamatergic; response to estradiol stimulus; positive regulation of synaptic transmission, GABAergic; sleep; telencephalon development; heart development; response to peptide hormone stimulus; eating behavior; sperm ejaculation; maternal behavior; response to drug; response to cocaine; social behavior; response to cytokine stimulus; response to anoxia; response to progesterone stimulus; memory; maternal process involved in parturition; estrous cycle phase; positive regulation of penile erection; negative regulation of gastric acid secretion; ERK1 and ERK2 cascade; positive regulation of uterine smooth muscle contraction; suckling behavior; response to amphetamine; muscle contraction; cell surface receptor signaling pathway; elevation of cytosolic calcium ion concentration; positi | 3p25 |
| P2RX1 | positive regulation of ion transport; response to ATP; purinergic nucleotide receptor signaling pathway; synaptic transmission, glutamatergic; platelet activation; regulation of action potential in neuron; death; regulation of blood pressure; blood coagulation; insemination; signal transduction; activation of cysteine-type endopeptidase activity involved in apoptotic process; cation transport; transport; regulation of vascular smooth muscle contraction; serotonin secretion by platelet; response to stimulus; protein homooligomerization; ion transport; ceramide biosynthetic process; protein heterooligomerization; regulation of calcium ion transport; calcium ion transmembrane transport | 17p13.3 |
| P2RX2 | protein homooligomerization; positive regulation of calcium-mediated signaling; purinergic nucleotide receptor signaling pathway; positive regulation of calcium ion transport into cytosol; cation transport | 12q24.33 |
| P2RX3 | positive regulation of calcium-mediated signaling; peristalsis; response to stimulus; response to cold; response to carbohydrate stimulus; positive regulation of calcium ion transport into cytosol; sensory perception of taste; protein homooligomerization; urinary bladder smooth muscle contraction; regulation of action potential in neuron; behavioral response to pain; regulation of synaptic plasticity; purinergic nucleotide receptor signaling pathway; response to heat; neuromuscular synaptic transmission; signal transduction; cation transport; transport; response to hypoxia; response to ATP | 11q12 |
| P2RX4 | response to stress; regulation of sodium ion transport; tissue homeostasis; regulation of excitatory postsynaptic membrane potential; relaxation of cardiac muscle; regulation of cardiac muscle contraction; positive regulation of calcium ion transport; membrane depolarization; protein homooligomerization; positive regulation of calcium-mediated signaling; positive regulation of nitric oxide biosynthetic process; regulation of apoptotic process; vasodilation; endothelial cell activation; response to fluid shear stress; response to ATP; positive regulation of prostaglandin secretion; sensory perception of pain; regulation of action potential in neuron; negative regulation of cardiac muscle hypertrophy; positive regulation of calcium ion transport into cytosol; regulation of blood pressure; signal transduction; ion transport; transport; purinergic nucleotide receptor signaling pathway | 12q24.32 |
| P2RX5 | transport; positive regulation of calcium-mediated signaling; purinergic nucleotide receptor signaling pathway; positive regulation of calcium ion transport into cytosol; nervous system development; signal transduction; cation transport | 17p13.3 |
| P2RX6 | transport; ion transport; cation transport; muscle contraction; signal transduction; protein homooligomerization; protein heterooligomerization; purinergic nucleotide receptor signaling pathway | 22q11.21 |
| P2RX6P | - | 22q11.21 |
| P2RX7 | regulation of sodium ion transport; ion transport; cell surface receptor signaling pathway; positive regulation of calcium ion transport into cytosol; bleb assembly; sensory perception of pain; response to ATP; positive regulation of bone mineralization; membrane depolarization; regulation of killing of cells of other organism; positive regulation of cytoskeleton organization; positive regulation of interleukin-1 beta secretion; pore complex assembly; positive regulation of cytolysis; negative regulation of bone resorption; innate immune response; negative regulation of MAPK cascade; regulation of apoptotic process; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; purinergic nucleotide receptor signaling pathway | 12q24 |
| P2RY1 | response to growth factor stimulus; positive regulation of penile erection; negative regulation of binding; elevation of cytosolic calcium ion concentration; positive regulation of hormone secretion; positive regulation of ion transport; eating behavior; regulation of vasodilation; positive regulation of inositol trisphosphate biosynthetic process; platelet activation; sensory perception of pain; negative regulation of norepinephrine secretion; regulation of receptor activity; response to mechanical stimulus; blood coagulation; aging; brain development; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; inhibition of adenylate cyclase activity by G-protein signaling pathway; cell surface receptor signaling pathway | 3q25.2 |
| P2RY10 | - | Xq21.1 |
| P2RY12 | G-protein signaling, coupled to cAMP nucleotide second messenger; protein kinase B signaling cascade; positive regulation of ion transport; blood coagulation; hemostasis; platelet activation | 3q24-q25 |
| P2RY13 | - | 3q24 |
| P2RY2 | regulation of vasodilation; cellular response to purine-containing compound; cellular response to interleukin-1; response to growth factor stimulus; positive regulation of penile erection; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; wound healing; positive regulation of chemokine production; positive regulation of prostaglandin secretion; negative regulation of ossification; sensory perception of pain; positive regulation of smooth muscle cell migration; positive regulation of neuron projection development; embryo development; aging; elevation of cytosolic calcium ion concentration; cellular ion homeostasis | 11q13.5-q14.1 |
| P2RY6 | activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger | 11q13.5 |
| P2RY8 | - | Xp22.33; Yp11.3 |
| P3H1 | negative regulation of cell proliferation; cell growth | 1p34.1 |
| P3H2 | negative regulation of cell proliferation; peptidyl-proline hydroxylation; collagen metabolic process | 3q28 |
| P3H3 | negative regulation of cell proliferation | 12q13 |
| P3H4 | synaptonemal complex assembly | 17q21.2 |
| P4HA1 | collagen fibril organization; peptidyl-proline hydroxylation to 4-hydroxy-L-proline | 10q21.3-q23.1 |
| P4HA2 | peptidyl-proline hydroxylation to 4-hydroxy-L-proline | 5q31 |
| P4HA2-AS1 | - | 5q31.1 |
| P4HA3 | - | 11q13.4 |
| P4HB | small molecule metabolic process; cell redox homeostasis; lipoprotein metabolic process; peptidyl-proline hydroxylation to 4-hydroxy-L-proline; glycerol ether metabolic process; lipid metabolic process | 17q25 |
| P4HTM | - | 3p21.31|3p21.3 |
| PA2G4 | rRNA processing; regulation of translation; cell cycle arrest; cell proliferation; cellular process; negative regulation of transcription, DNA-dependent | 12q13.2 |
| PA2G4P2 | - | 20p12.1 |
| PA2G4P3 | - | 18q11.2 |
| PA2G4P4 | - | 3q25.31 |
| PA2G4P5 | - | 6q21 |
| PA2G4P6 | - | 9q22.2 |
| PAAF1 | interspecies interaction between organisms | 11q13.4 |
| PABPC1 | cellular protein metabolic process; mRNA metabolic process; RNA metabolic process; gene expression; positive regulation of translation; RNA splicing; mRNA stabilization; translational initiation; nuclear-transcribed mRNA poly(A) tail shortening; translation; mRNA polyadenylation; negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear mRNA splicing, via spliceosome; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 8q22.2-q23 |
| PABPC1L | - | - |
| PABPC1L2B | - | Xq13.2 |
| PABPC1L2B-AS1 | - | Xq13.2 |
| PABPC1P1 | - | 4p14 |
| PABPC1P10 | - | 3q25.2 |
| PABPC1P11 | - | - |
| PABPC1P13 | - | 16p11.2 |
| PABPC1P2 | - | 2q22.3 |
| PABPC1P4 | - | 12q14.2 |
| PABPC3 | mRNA metabolic process | 13q12-q13 |
| PABPC4L | - | 4q28.3 |
| PABPC5 | - | Xq21.3 |
| PABPC5-AS1 | - | Xq21.31 |
| PABPN1 | RNA processing; viral infectious cycle; modification by virus of host mRNA processing; mRNA 3'-end processing; mRNA processing; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; modulation by virus of host cellular process; virus-host interaction; poly(A)+ mRNA export from nucleus; gene expression; RNA splicing; muscle contraction | 14q11.2 |
| PABPN1L | - | 16q24.3 |
| PACRG | - | 6q26 |
| PACRG-AS1 | - | 6q26 |
| PACRGL | - | 4p15.31 |
| PACS1 | interspecies interaction between organisms; protein targeting to Golgi; viral reproduction; positive regulation of protein binding; cellular protein localization; regulation of defense response to virus by virus; protein targeting to plasma membrane | 11q13.1-q13.2 |
| PACS2 | protein targeting to plasma membrane; interspecies interaction between organisms; apoptotic process | 14q32.33 |
| PACSIN1 | endocytosis; protein phosphorylation; cytoskeleton organization; negative regulation of endocytosis | 6p21.3 |
| PACSIN2 | actin cytoskeleton organization; transport; negative regulation of endocytosis | 22q13.2-q13.33 |
| PACSIN3 | positive regulation of membrane protein ectodomain proteolysis; negative regulation of endocytosis | 11p12-p11.12 |
| PADI1 | protein modification process; peptidyl-citrulline biosynthetic process from peptidyl-arginine | 1p36.13 |
| PADI2 | protein modification process; peptidyl-citrulline biosynthetic process from peptidyl-arginine | 1p36.13 |
| PADI3 | peptidyl-citrulline biosynthetic process from peptidyl-arginine; protein modification process | 1p36.13 |
| PADI4 | regulation of transcription, DNA-dependent; protein modification process; chromatin modification; peptidyl-citrulline biosynthetic process from peptidyl-arginine | 1p36.13 |
| PADI6 | peptidyl-citrulline biosynthetic process from peptidyl-arginine; protein modification process | 1p36.13 |
| PAEP | transport; multicellular organismal development | 9q34 |
| PAF1 | regulation of transcription, DNA-dependent; histone monoubiquitination; histone H2B ubiquitination | 19q13.1 |
| PAFAH1B1 | neuron migration; microtubule cytoskeleton organization; cell differentiation; actin cytoskeleton organization; cerebral cortex development; multicellular organismal development; synaptic transmission; nuclear migration; microtubule-based process; transport; acrosome assembly; mitotic cell cycle; mitotic prometaphase; microtubule organizing center organization; establishment of mitotic spindle orientation; M phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; lipid catabolic process; stem cell division; transmission of nerve impulse; corpus callosum morphogenesis; hippocampus development; layer formation in cerebral cortex; cerebral cortex neuron differentiation; negative regulation of neuron projection development; positive regulation of axon extension; positive regulation of mitotic cell cycle; platelet activating factor metabolic process; vesicle transport along microtubule; brain morphogenesis; neuromuscular process controlling balance; nuclear envelope disassembly; adult locomotory behavi | 17p13.3 |
| PAFAH1B1P2 | - | 2q13 |
| PAFAH1B2 | lipid catabolic process; lipid metabolic process | 11q23 |
| PAFAH1B3 | lipid catabolic process; nervous system development; lipid metabolic process | 19q13.1 |
| PAFAH2 | lipid metabolic process; anti-apoptosis; lipid catabolic process | 1p36 |
| PAG1 | signal transduction; negative regulation of T cell activation; regulation of T cell activation; T cell receptor signaling pathway; intracellular signal transduction; epidermal growth factor receptor signaling pathway | 8q21.13 |
| PAGE1 | cellular defense response | Xp11.23 |
| PAGE2 | - | Xp11.21 |
| PAGE2B | - | Xp11.21 |
| PAGE4 | - | Xp11.23 |
| PAGE5 | - | Xp11.21 |
| PAGR1 | - | 16p11.2 |
| PAICS | small molecule metabolic process; purine base metabolic process; purine nucleotide biosynthetic process; 'de novo' IMP biosynthetic process; purine base biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; nucleobase-containing small molecule metabolic process | 4q12 |
| PAICSP1 | - | 9p13 |
| PAICSP3 | - | 6q13 |
| PAICSP4 | - | 8p23.2 |
| PAICSP5 | - | 7q35 |
| PAICSP6 | - | 7q35 |
| PAIP1 | mRNA stabilization; positive regulation of translation; mRNA metabolic process; RNA metabolic process; gene expression; translational initiation; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 5p12 |
| PAIP2 | regulation of translation; negative regulation of translational initiation | 5q31.2 |
| PAIP2B | negative regulation of translational initiation | 2p13.3 |
| PAK1 | neuron projection morphogenesis; negative regulation of cell proliferation involved in contact inhibition; positive regulation of stress fiber assembly; T cell receptor signaling pathway; MAPK cascade; protein phosphorylation; apoptotic process; axon guidance; T cell costimulation; actin cytoskeleton reorganization; positive regulation of peptidyl-serine phosphorylation; positive regulation of intracellular estrogen receptor signaling pathway; wound healing; positive regulation of JUN kinase activity; protein autophosphorylation; branching morphogenesis of a tube | 11q13-q14 |
| PAK1IP1 | negative regulation of signal transduction | 6p24.2 |
| PAK2 | signal transduction; axon guidance; protein phosphorylation; negative regulation of protein kinase activity; apoptotic process; cellular component disassembly involved in apoptosis; viral reproduction; negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis; positive regulation of extrinsic apoptotic signaling pathway; positive regulation of protein tyrosine kinase activity; T cell receptor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; regulation of defense response to virus by virus; protein autophosphorylation; interspecies interaction between organisms; negative regulation of apoptotic process; regulation of apoptotic process; regulation of growth; T cell costimulation; peptidyl-serine phosphorylation; phosphorylation | 3q29 |
| PAK3 | MAPK cascade; activation of MAPK activity; multicellular organismal development; axonogenesis; dendrite development; regulation of actin filament polymerization; dendritic spine morphogenesis; synapse organization | Xq23 |
| PAK4 | cellular component movement; apoptotic process; cytoskeleton organization; cell cycle; signal transduction; cell proliferation; protein phosphorylation; cell migration; cell growth | 19q13.2 |
| PAK6 | regulation of transcription, DNA-dependent; apoptotic process; cytoskeleton organization | 15q14 |
| PAK7 | anti-apoptosis; apoptotic process; cytoskeleton organization; signal transduction; cell proliferation; cell growth; cell migration | 20p12 |
| PALB2 | DNA repair; double-strand break repair via homologous recombination; DNA recombination | 16p12.2 |
| PALD1 | - | 10q22.1 |
| PALLD | cytoskeleton organization | 4q32.3 |
| PALM | protein localization; cytoskeleton organization; negative regulation of adenylate cyclase activity; regulation of cell shape; positive regulation of filopodium assembly; synapse maturation; negative regulation of dopamine receptor signaling pathway; positive regulation of dendritic spine development; cellular response to electrical stimulus; protein targeting to plasma membrane; cellular component movement | 19p13.3 |
| PALM2 | regulation of cell shape | 9q31.3 |
| PALM3 | negative regulation of cytokine-mediated signaling pathway; response to lipopolysaccharide; Toll signaling pathway | 19p13.12 |
| PALMD | regulation of cell shape | 1p22-p21 |
| PAM | protein modification process; response to hypoxia; peptide metabolic process; central nervous system development; heart development; response to pH; response to estradiol stimulus; response to drug; response to copper ion; response to glucocorticoid stimulus; limb development | 5q14-q21 |
| PAM16 | protein transport | 16p13.3 |
| PAMR1 | - | 11p13 |
| PAN2 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA poly(A) tail shortening; ubiquitin-dependent protein catabolic process; gene expression; RNA metabolic process; mRNA metabolic process | 12q13.2 |
| PAN3 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA poly(A) tail shortening; RNA metabolic process; mRNA metabolic process; gene expression | 13q12.2 |
| PAN3-AS1 | - | 13q12.2 |
| PANDAR | - | 6p21.2 |
| PANK1 | vitamin metabolic process; water-soluble vitamin metabolic process; coenzyme biosynthetic process; coenzyme A biosynthetic process; small molecule metabolic process; pantothenate metabolic process | 10q23.31 |
| PANK2 | coenzyme A biosynthetic process; coenzyme biosynthetic process; water-soluble vitamin metabolic process; cell death; vitamin metabolic process; pantothenate metabolic process; small molecule metabolic process | 20p13 |
| PANK3 | coenzyme A biosynthetic process | 5q34 |
| PANK4 | coenzyme A biosynthetic process | 1p36.32 |
| PANX1 | positive regulation of cytokine secretion; cation transport; calcium ion transport; synaptic transmission; response to ATP; protein hexamerization; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; calcium ion transmembrane transport; positive regulation of interleukin-1 beta secretion; positive regulation of interleukin-1 alpha secretion; innate immune response | 11q21 |
| PANX2 | ion transport; synaptic transmission; protein hexamerization | 22q13.33 |
| PANX3 | cell-cell signaling; ion transport; protein hexamerization | 11q24.2 |
| PAOX | polyamine metabolic process; polyamine biosynthetic process; polyamine catabolic process; xenobiotic metabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 10q26.3 |
| PAPD4 | mRNA processing; histone mRNA catabolic process; RNA polyadenylation | 5q14.1 |
| PAPD5 | cell cycle; mitosis; cell division; DNA replication; histone mRNA catabolic process | 16q12.1 |
| PAPD7 | DNA replication; mitosis; sister chromatid cohesion; double-strand break repair; cell cycle; cell division; mitotic chromosome condensation; response to drug | 5p15 |
| PAPLN | - | 14q24.2 |
| PAPOLA | RNA polyadenylation; mRNA 3'-end processing; gene expression; RNA splicing; mRNA processing; mRNA polyadenylation; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome | 14q32.31 |
| PAPOLB | transcription, DNA-dependent; mRNA processing; RNA polyadenylation | 7p22.1 |
| PAPOLG | RNA polyadenylation; mRNA processing; transcription, DNA-dependent | 2p16.1 |
| PAPPA | cell differentiation; metabolic process; female pregnancy; proteolysis | 9q33.2 |
| PAPPA-AS1 | - | 9q33.2 |
| PAPPA2 | regulation of cell growth; proteolysis; cell differentiation | 1q23-q25 |
| PAPSS1 | sulfate assimilation; skeletal system development; xenobiotic metabolic process; small molecule metabolic process; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process | 4q24 |
| PAPSS2 | small molecule metabolic process; skeletal system development; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; sulfate assimilation; 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process; xenobiotic metabolic process | 10q24 |
| PAQR3 | - | 4q21.21 |
| PAQR4 | - | 16p13.3 |
| PAQR5 | cell differentiation; oogenesis; multicellular organismal development | 15q23 |
| PAQR6 | - | 1q22 |
| PAQR7 | oogenesis; cell differentiation; multicellular organismal development | 1p36.11 |
| PAQR8 | multicellular organismal development; cell differentiation; oogenesis | 6p12.1 |
| PAQR9 | - | 3q23 |
| PARD3 | axonogenesis; protein complex assembly; protein targeting to membrane; cell cycle; establishment or maintenance of cell polarity; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; asymmetric cell division; cell junction assembly; cell-cell junction organization; tight junction assembly; establishment of epithelial cell polarity | 10p11.21 |
| PARD3-AS1 | - | - |
| PARD3B | cell cycle; cell division | 2q33.3 |
| PARD6A | cell cycle; tight junction assembly; cell division; cell-cell junction maintenance; cell-cell junction organization; cell junction assembly; viral reproduction | 16q22.1 |
| PARD6B | protein complex assembly; cell-cell junction assembly; cell cycle; cell junction assembly; cell-cell junction organization; cell division; regulation of cell migration; tight junction assembly; axonogenesis; establishment or maintenance of cell polarity | 20q13.13 |
| PARD6G | cell cycle; tight junction assembly; cell division; cell junction assembly; cell-cell junction organization | 18q23 |
| PARD6G-AS1 | - | 18q23 |
| PARG | carbohydrate metabolic process; response to DNA damage stimulus; metabolic process; detection of bacterium; positive regulation of DNA repair | 10q11.23 |
| PARGP1 | - | 10q11.23 |
| PARK2 | norepinephrine metabolic process; negative regulation of protein phosphorylation; startle response; ubiquitin-dependent protein catabolic process; dopamine metabolic process; protein monoubiquitination; protein polyubiquitination; synaptic transmission, glutamatergic; negative regulation of actin filament bundle assembly; protein metabolic process; regulation of autophagy; adult locomotory behavior; cell death; learning; central nervous system development; mitochondrion degradation; regulation of reactive oxygen species metabolic process; negative regulation of release of cytochrome c from mitochondria; neuron death; protein K48-linked ubiquitination; aggresome assembly; protein K63-linked ubiquitination; negative regulation of cell death; protein autoubiquitination; dopamine uptake; regulation of neurotransmitter secretion; positive regulation of I-kappaB kinase/NF-kappaB cascade; protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 6q25.2-q27 |
| PARK7 | mitochondrion organization; proteolysis; autophagy; negative regulation of extrinsic apoptotic signaling pathway; membrane depolarization; dopamine uptake; response to drug; hydrogen peroxide metabolic process; neuroprotection; membrane hyperpolarization; protein stabilization; regulation of inflammatory response; positive regulation of oxidative phosphorylation uncoupler activity; single fertilization; adult locomotory behavior; negative regulation of cell death; regulation of androgen receptor signaling pathway; cellular response to hydrogen peroxide; negative regulation of protein binding; cellular response to oxidative stress; oxidation-reduction process | 1p36.23 |
| PARL | proteolysis | 3q27.1 |
| PARM1 | positive regulation of telomerase activity | 4q13.3-q21.3 |
| PARN | mRNA metabolic process; nucleic acid phosphodiester bond hydrolysis; RNA metabolic process; gene expression; RNA modification; female gamete generation; mRNA catabolic process; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 16p13 |
| PARP1 | telomere maintenance; DNA repair; base-excision repair; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; protein autoprocessing; cellular response to insulin stimulus; regulation of growth rate; DNA damage response, detection of DNA damage; protein poly-ADP-ribosylation; protein ADP-ribosylation | 1q41-q42 |
| PARP10 | protein poly-ADP-ribosylation; negative regulation of fibroblast proliferation; regulation of chromatin assembly | 8q24.3 |
| PARP11 | - | 12p13.3 |
| PARP12 | - | 7q34 |
| PARP14 | regulation of transcription, DNA-dependent | 3q21.1 |
| PARP15 | regulation of transcription, DNA-dependent | 3q21.1 |
| PARP16 | - | 15q22.31 |
| PARP1P1 | - | 13q34 |
| PARP1P2 | - | 14q22 |
| PARP2 | DNA repair; metabolic process; protein ADP-ribosylation; base-excision repair | 14q11.2-q12 |
| PARP3 | protein ADP-ribosylation; DNA repair | 3p21.31-p21.1 |
| PARP4 | inflammatory response; response to drug; cell death; response to DNA damage stimulus; transport; protein ADP-ribosylation; protein modification process; DNA repair | 13q11 |
| PARP4P1 | - | Yq11.23 |
| PARP4P2 | - | 13q12.11 |
| PARP6 | - | 15q23 |
| PARP8 | - | 5q11.1 |
| PARP9 | regulation of response to interferon-gamma; cell migration | 3q21 |
| PARPBP | DNA repair; negative regulation of double-strand break repair via homologous recombination | 12q23.2 |
| PARS2 | gene expression; prolyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 1p32.2 |
| PART1 | - | 5q12.1 |
| PARTICL | - | - |
| PARVA | cell projection organization; cell junction assembly; actin cytoskeleton organization; cilium morphogenesis; protein heterooligomerization; cell adhesion | 11p15.3 |
| PARVB | cell junction assembly; cell adhesion | 22q13.2-q13.33 |
| PARVG | cell-matrix adhesion; cell adhesion | 22q13.31 |
| PASD1 | - | Xq28 |
| PASK | negative regulation of glycogen biosynthetic process; regulation of energy homeostasis; regulation of glucagon secretion; protein phosphorylation; regulation of respiratory gaseous exchange; protein autophosphorylation; positive regulation of translation | 2q37.3 |
| PATE1 | - | 11q24.2 |
| PATE2 | - | 11q24.2 |
| PATL1 | cytoplasmic mRNA processing body assembly; deadenylation-dependent decapping of nuclear-transcribed mRNA | 11q12.1 |
| PATL2 | negative regulation of translation | 15q21.1 |
| PATZ1 | male gonad development; spermatogenesis; T cell differentiation; regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 22q12.2 |
| PAUPAR | - | 11p13 |
| PAWR | positive regulation of amyloid precursor protein biosynthetic process; positive regulation of apoptotic process; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; apoptotic process; induction of apoptosis; negative regulation of cell proliferation; negative regulation of B cell proliferation; interleukin-2 biosynthetic process; negative regulation of T cell proliferation; negative regulation of T cell receptor signaling pathway; actin filament bundle assembly | 12q21 |
| PAX1 | thymus development; skeletal system development; somitogenesis; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; pattern specification process; CD4-positive, alpha-beta T cell differentiation; CD8-positive, alpha-beta T cell differentiation; parathyroid gland development; bone morphogenesis; sclerotome development | 20p11.2 |
| PAX2 | positive regulation of optic nerve formation; metanephric collecting duct development; positive regulation of metanephric DCT cell differentiation; negative regulation of reactive oxygen species metabolic process; positive regulation of branching involved in ureteric bud morphogenesis; cochlea morphogenesis; cochlea development; reactive oxygen species metabolic process; regulation of metanephric nephron tubule epithelial cell differentiation; negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis; positive regulation of metanephric glomerulus development; metanephric nephron tubule formation; metanephric distal convoluted tubule development; metanephric epithelium development; glial cell differentiation; mesodermal cell fate specification; axonogenesis; multicellular organismal development; anti-apoptosis; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription, DNA-dependent; retinal pigment epithelium development | 10q24 |
| PAX3 | regulation of transcription, DNA-dependent; positive regulation of cell proliferation; apoptotic process; transcription from RNA polymerase II promoter; neural tube closure; neural crest cell migration; negative regulation of transcription from RNA polymerase II promoter; multicellular organismal development; heart development; muscle organ development; sensory perception of sound; organ morphogenesis; cell migration; mammary gland specification; spinal cord association neuron differentiation; neural tube development; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; developmental pigmentation; neuron fate commitment | 2q35 |
| PAX4 | multicellular organismal development; endocrine pancreas development; cell differentiation; organ morphogenesis | 7q32 |
| PAX5 | negative regulation of histone H3-K9 methylation; cell differentiation; organ morphogenesis; nervous system development; spermatogenesis; multicellular organismal development; humoral immune response; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 9p13 |
| PAX6 | protein ubiquitination; cornea development in camera-type eye; negative regulation of neurogenesis; blood vessel development; eye development; pancreatic A cell development; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; multicellular organismal development; central nervous system development; visual perception; response to wounding; organ morphogenesis; positive regulation of gene expression; cell differentiation; glucose homeostasis; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; neuron fate commitment; iris morphogenesis | 11p13 |
| PAX7 | embryonic skeletal system development; cartilage development; satellite cell commitment; anatomical structure morphogenesis; skeletal muscle tissue development; multicellular organismal development; anti-apoptosis; neuron fate commitment; skeletal muscle tissue regeneration; muscle tissue morphogenesis; dorsal/ventral neural tube patterning; spinal cord association neuron differentiation; regulation of transcription, DNA-dependent | 1p36.13 |
| PAX8 | central nervous system development; mesonephric tubule development; inner ear morphogenesis; regulation of apoptotic process; positive regulation of metanephric DCT cell differentiation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; pronephros development; cellular response to gonadotropin stimulus; otic vesicle development; positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; pronephric field specification; metanephric collecting duct development; metanephric epithelium development; metanephric distal convoluted tubule development; metanephric comma-shaped body morphogenesis; metanephric S-shaped body morphogenesis; metanephric nephron tubule formation; negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis; regulation of metanephric nephron tubule epithelial cell differentiation; positive regulation of branching involved in ureteric bud morp | 2q13 |
| PAX8-AS1 | - | 2q13 |
| PAX9 | negative regulation of transcription, DNA-dependent; regulation of odontogenesis; regulation of transcription, DNA-dependent; multicellular organismal development; endoderm development; positive regulation of transcription from RNA polymerase II promoter; face morphogenesis; cellular response to growth factor stimulus | 14q13.3 |
| PAXBP1 | - | 21q21.3 |
| PAXBP1-AS1 | - | - |
| PAXIP1 | positive regulation of transcription initiation from RNA polymerase II promoter; positive regulation of histone H3-K4 methylation; histone H3-K4 methylation; positive regulation of isotype switching; positive regulation of histone acetylation; positive regulation of protein ubiquitination; DNA damage response, signal transduction by p53 class mediator; response to ionizing radiation; regulation of transcription, DNA-dependent; DNA recombination; DNA repair; positive regulation of histone H3-K36 methylation | 7q36 |
| PAXIP1-AS1 | - | 7q36.2 |
| PBDC1 | - | Xq13.3 |
| PBK | mitosis; protein phosphorylation | 8p21.2 |
| PBLD | biosynthetic process | 10q21.3 |
| PBRM1 | chromatin remodeling; regulation of transcription, DNA-dependent; mitosis; negative regulation of cell proliferation | 3p21 |
| PBX1 | sex differentiation; embryonic limb morphogenesis; urogenital system development; branching involved in ureteric bud morphogenesis; regulation of transcription, DNA-dependent; steroid biosynthetic process; embryonic hemopoiesis; positive regulation of cell proliferation; organ morphogenesis; anterior/posterior pattern specification; proximal/distal pattern formation; cell differentiation; regulation of ossification; adrenal gland development; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; spleen development; thymus development; embryonic skeletal system development | 1q23 |
| PBX2 | embryonic limb morphogenesis; proximal/distal pattern formation; positive regulation of transcription from RNA polymerase II promoter | 6p21.3 |
| PBX2P1 | - | 3q24 |
| PBX3 | dorsal spinal cord development; adult locomotory behavior; respiratory gaseous exchange; posterior compartment specification; anterior compartment pattern formation; neuron development; regulation of respiratory gaseous exchange by neurological system process | 9q33.3 |
| PBX4 | transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent | 19p12 |
| PBXIP1 | multicellular organismal development; negative regulation of transcription, DNA-dependent; cell differentiation | 1q21.3 |
| PC | carbohydrate metabolic process; glucose metabolic process; pyruvate metabolic process; gluconeogenesis; small molecule metabolic process; lipid biosynthetic process; oxaloacetate metabolic process | 11q13.4-q13.5 |
| PCA3 | - | 9q21.2 |
| PCAT1 | - | 8q24.21 |
| PCAT18 | - | 18q11.2 |
| PCAT19 | - | - |
| PCAT4 | - | 4q21.1 |
| PCAT6 | - | - |
| PCBD1 | oxidation-reduction process; protein heterooligomerization; protein homotetramerization; positive regulation of transcription, DNA-dependent; small molecule metabolic process; regulation of protein homodimerization activity; cellular nitrogen compound metabolic process; tetrahydrobiopterin biosynthetic process; L-phenylalanine catabolic process | 10q22 |
| PCBD2 | positive regulation of transcription, DNA-dependent; protein heterooligomerization; oxidation-reduction process; protein homotetramerization; tetrahydrobiopterin biosynthetic process | 5q31.1 |
| PCBP1 | RNA splicing; mRNA metabolic process; gene expression; nuclear mRNA splicing, via spliceosome | 2p13-p12 |
| PCBP1-AS1 | - | 2p14 |
| PCBP2 | response to virus; negative regulation of defense response to virus; innate immune response; proteasomal ubiquitin-dependent protein catabolic process; negative regulation of type I interferon production; mRNA metabolic process; gene expression; RNA splicing; nuclear mRNA splicing, via spliceosome | 12q13.12-q13.13 |
| PCBP2P2 | - | 8q21-q22 |
| PCBP3 | mRNA metabolic process | 21q22.3 |
| PCBP3-OT1 | - | 21q22.3 |
| PCBP4 | DNA damage response, signal transduction resulting in induction of apoptosis; cell cycle arrest; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | 3p21 |
| PCCA | cellular lipid metabolic process; small molecule metabolic process; short-chain fatty acid catabolic process; fatty acid beta-oxidation | 13q32 |
| PCCB | small molecule metabolic process; cellular lipid metabolic process; short-chain fatty acid catabolic process; fatty acid beta-oxidation | 3q21-q22 |
| PCDH1 | homophilic cell adhesion; cell adhesion; cell-cell signaling; nervous system development | 5q31.3 |
| PCDH10 | cell adhesion; homophilic cell adhesion | 4q28.3 |
| PCDH11X | negative regulation of phosphatase activity; cell adhesion; homophilic cell adhesion | Xq21.3 |
| PCDH11Y | homophilic cell adhesion; cell adhesion | Yp11.2 |
| PCDH12 | homophilic cell adhesion; neuron recognition; cell adhesion | 5q31 |
| PCDH15 | homophilic cell adhesion; cell adhesion; sensory perception of sound; photoreceptor cell maintenance; sensory perception of light stimulus; equilibrioception | 10q21.1 |
| PCDH17 | homophilic cell adhesion; cell adhesion | 13q21.1 |
| PCDH18 | cell adhesion; homophilic cell adhesion; brain development | 4q31 |
| PCDH19 | cell adhesion; homophilic cell adhesion | Xq22.1 |
| PCDH20 | cell adhesion; homophilic cell adhesion | 13q21 |
| PCDH7 | homophilic cell adhesion; cell adhesion | 4p15 |
| PCDH8 | somitogenesis; morphogenesis of embryonic epithelium; synaptic transmission; cell-cell signaling; homophilic cell adhesion; cell adhesion | 13q21.1 |
| PCDH8P1 | - | 13q14.3 |
| PCDH9 | homophilic cell adhesion; cell adhesion | 13q21.32 |
| PCDH9-AS1 | - | - |
| PCDH9-AS3 | - | - |
| PCDH9-AS4 | - | - |
| PCDHA@ | - | 5q31 |
| PCDHA1 | nervous system development; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHA10 | cell adhesion; nervous system development; homophilic cell adhesion | 5q31 |
| PCDHA11 | cell adhesion; homophilic cell adhesion; nervous system development | 5q31 |
| PCDHA12 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHA14 | - | 5q31 |
| PCDHA2 | cell adhesion; homophilic cell adhesion; nervous system development | 5q31 |
| PCDHA3 | cell adhesion; homophilic cell adhesion; nervous system development | 5q31 |
| PCDHA4 | nervous system development; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHA5 | nervous system development; cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHA6 | cell adhesion; homophilic cell adhesion; nervous system development | 5q31 |
| PCDHA7 | cell adhesion; homophilic cell adhesion; nervous system development | 5q31 |
| PCDHA8 | homophilic cell adhesion; nervous system development; cell adhesion | 5q31 |
| PCDHA9 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHAC1 | nervous system development; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHAC2 | cell adhesion; homophilic cell adhesion; nervous system development | 5q31 |
| PCDHB10 | calcium-dependent cell-cell adhesion; synapse assembly; synaptic transmission; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB11 | calcium-dependent cell-cell adhesion; synapse assembly; nervous system development; synaptic transmission; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB12 | nervous system development; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB13 | calcium-dependent cell-cell adhesion; synapse assembly; synaptic transmission; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB14 | cell adhesion; synapse assembly; synaptic transmission; homophilic cell adhesion; calcium-dependent cell-cell adhesion | 5q31 |
| PCDHB15 | cell adhesion; homophilic cell adhesion; nervous system development | 5q31 |
| PCDHB16 | calcium-dependent cell-cell adhesion; synapse assembly; synaptic transmission; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB17P | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB18P | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB19P | - | 5q31 |
| PCDHB2 | nervous system development; calcium-dependent cell-cell adhesion; synapse assembly; synaptic transmission; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB3 | calcium-dependent cell-cell adhesion; homophilic cell adhesion; synapse assembly; nervous system development; synaptic transmission; cell adhesion | 5q31 |
| PCDHB4 | calcium-dependent cell-cell adhesion; synapse assembly; nervous system development; synaptic transmission; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB5 | cell adhesion; homophilic cell adhesion; synaptic transmission; synapse assembly; calcium-dependent cell-cell adhesion | 5q31 |
| PCDHB6 | synaptic transmission; calcium-dependent cell-cell adhesion; synapse assembly; nervous system development; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB7 | calcium-dependent cell-cell adhesion; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB8 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB9 | homophilic cell adhesion; synaptic transmission; synapse assembly; cell adhesion; calcium-dependent cell-cell adhesion | 5q31 |
| PCDHGA1 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGA10 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGA11 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGA12 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGA2 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGA3 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGA4 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGA5 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGA6 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGA7 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGA8 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGA9 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGB1 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGB2 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGB4 | calcium-dependent cell-cell adhesion; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGB5 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGB6 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGB7 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGB8P | - | 5q31 |
| PCDHGC3 | cell adhesion; homophilic cell adhesion; calcium-dependent cell-cell adhesion | 5q31 |
| PCDHGC4 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCED1A | - | 20p13 |
| PCED1B | - | 12q13.11 |
| PCED1B-AS1 | - | 12q13.11 |
| PCF11 | gene expression; mRNA 3'-end processing; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA cleavage; mRNA processing; RNA splicing | 11q13 |
| PCGF1 | regulation of transcription, DNA-dependent; histone H2A monoubiquitination | 2p13.1 |
| PCGF2 | embryonic skeletal system morphogenesis; negative regulation of apoptotic process; histone acetylation; anterior/posterior pattern specification; negative regulation of transcription from RNA polymerase II promoter; in utero embryonic development; regulation of transcription, DNA-dependent | 17q12 |
| PCGF3 | regulation of transcription, DNA-dependent | 4p16.3 |
| PCGF5 | regulation of transcription, DNA-dependent | 10q23.32 |
| PCGF6 | negative regulation of transcription, DNA-dependent | 10q24.33 |
| PCID2 | regulation of mRNA stability; negative regulation of cysteine-type endopeptidase activity; positive regulation of mitotic cell cycle spindle assembly checkpoint; spleen development; positive regulation of transcription, DNA-dependent; negative regulation of apoptotic process; positive regulation of B cell differentiation | 13q34 |
| PCIF1 | negative regulation of phosphatase activity | 20q13.12 |
| PCK1 | oxaloacetate metabolic process; glycerol biosynthetic process from pyruvate; small molecule metabolic process; glucose homeostasis; response to insulin stimulus; response to activity; lipid metabolic process; internal protein amino acid acetylation; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process | 20q13.31 |
| PCK2 | carbohydrate metabolic process; response to glucocorticoid stimulus; small molecule metabolic process; oxaloacetate metabolic process; gluconeogenesis; glucose metabolic process | 14q11.2 |
| PCLO | synaptic vesicle exocytosis; cytoskeleton organization | 7q11.23-q21.3 |
| PCM1 | cilium assembly; microtubule anchoring; cell projection organization; interkinetic nuclear migration; mitotic cell cycle; G2/M transition of mitotic cell cycle; negative regulation of neurogenesis; centrosome organization; protein localization to centrosome | 8p22-p21.3 |
| PCMT1 | S-adenosylmethionine metabolic process; S-adenosylhomocysteine metabolic process; protein repair; protein methylation; protein modification process | 6q24-q25 |
| PCMTD1 | protein modification process | 8q11.23 |
| PCMTD1P2 | - | 16p11.2 |
| PCMTD2 | protein modification process | 20q13.33 |
| PCNA | S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; phosphatidylinositol-mediated signaling; response to cadmium ion; response to lipid; telomere maintenance via semi-conservative replication; positive regulation of deoxyribonuclease activity; translesion synthesis; cell proliferation; intracellular protein transport; regulation of transcription involved in G1/S phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; mitotic cell cycle; telomere maintenance via recombination; telomere maintenance; DNA replication; DNA strand elongation involved in DNA replication; regulation of DNA replication; DNA repair; transcription-coupled nucleotide-excision repair; base-excision repair; base-excision repair, gap-filling; nucleotide-excision repair; nucleotide-excision repair, DNA gap filling; mismatch repair; heart development | 20pter-p12 |
| PCNAP3 | - | Xp11.3 |
| PCNP | proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; cell cycle | 3q12.3 |
| PCNPP3 | - | 12q14.3 |
| PCNPP5 | - | 13q14.2 |
| PCNT | neural precursor cell proliferation; brain morphogenesis; multicellular organism growth; limb morphogenesis; olfactory bulb development; cerebellar cortex morphogenesis; spindle organization; apoptotic process; neuron migration; in utero embryonic development; mitotic cell cycle; microtubule cytoskeleton organization; G2/M transition of mitotic cell cycle; cilium assembly | 21q22.3 |
| PCNX | - | 14q24.2 |
| PCNXL2 | - | 1q42.2 |
| PCNXL3 | - | 11q13.1 |
| PCNXL4 | - | 14q23.1 |
| PCOLCE | proteolysis; multicellular organismal development; positive regulation of peptidase activity | 7q22 |
| PCOLCE-AS1 | - | 7q22.1 |
| PCOLCE2 | positive regulation of peptidase activity | 3q21-q24 |
| PCP2 | regulation of catalytic activity; signal transduction | 19p13.2 |
| PCP4 | central nervous system development | 21q22.2 |
| PCP4L1 | - | 1q23.3 |
| PCSK1 | response to interleukin-1; response to fatty acid; response to calcium ion; response to glucocorticoid stimulus; regulation of insulin secretion; positive regulation of protein secretion; response to axon injury; small molecule metabolic process; response to peptide hormone stimulus; protein autoprocessing; response to morphine; peptide biosynthetic process; response to drug; cellular nitrogen compound metabolic process; response to nutrient levels; energy reserve metabolic process; proteolysis; cell-cell signaling; metabolic process; response to glucose stimulus; embryo development; response to chlorate; response to organic cyclic compound; peptide hormone processing; pituitary gland development; neurogenesis; pancreas development; response to lipopolysaccharide | 5q15-q21 |
| PCSK1N | brain development; negative regulation of endopeptidase activity; neuropeptide signaling pathway; response to cold; response to dietary excess; peptide hormone processing | Xp11.23 |
| PCSK2 | islet amyloid polypeptide processing; enkephalin processing; insulin processing; protein autoprocessing; nervous system development; proteolysis | 20p11.2 |
| PCSK4 | binding of sperm to zona pellucida; proteolysis; acrosome reaction; sperm capacitation; fertilization | 19p13.3 |
| PCSK5 | anterior/posterior pattern specification; embryo implantation; kidney development; renin secretion into blood stream; signal peptide processing; proteolysis; cell-cell signaling; heart development; embryonic skeletal system development; embryonic digestive tract development; peptide biosynthetic process; nerve growth factor receptor signaling pathway; protein processing; peptide hormone processing; viral assembly, maturation, egress, and release; respiratory tube development; nerve growth factor processing; limb morphogenesis; cytokine biosynthetic process | 9q21.3 |
| PCSK6 | nerve growth factor production; secretion by cell; nerve growth factor receptor signaling pathway; peptide hormone processing; protein processing; nerve growth factor processing; glycoprotein metabolic process; determination of left/right symmetry; zygotic determination of anterior/posterior axis, embryo; proteolysis; regulation of BMP signaling pathway | 15q26.3 |
| PCSK7 | proteolysis; peptide hormone processing | 11q23-q24 |
| PCSK9 | regulation of receptor activity; phospholipid metabolic process; negative regulation of low-density lipoprotein particle clearance; protein autoprocessing; neurogenesis; neuron differentiation; low-density lipoprotein particle receptor catabolic process; regulation of low-density lipoprotein particle receptor catabolic process; cellular response to insulin stimulus; lipoprotein metabolic process; cholesterol homeostasis; positive regulation of neuron apoptosis; cellular response to starvation; cholesterol metabolic process; steroid metabolic process; lysosomal transport; induction of apoptosis; kidney development; triglyceride metabolic process; proteolysis; negative regulation of catalytic activity; positive regulation of receptor internalization; negative regulation of receptor recycling; liver development | 1p32.3 |
| PCTP | transport; cholesterol metabolic process; lipid transport; phospholipid transport | 17q21-q24 |
| PCYOX1 | chloride transport; prenylated protein catabolic process; prenylcysteine catabolic process; prenylcysteine metabolic process | 2p13.3 |
| PCYOX1L | prenylcysteine catabolic process | 5q32 |
| PCYT1A | CDP-choline pathway; phospholipid biosynthetic process; biosynthetic process; response to abiotic stimulus | 3q29 |
| PCYT1B | spermatogenesis; phospholipid biosynthetic process; biosynthetic process; ovarian follicle development; phosphatidylcholine biosynthetic process; CDP-choline pathway | Xp22.11 |
| PCYT2 | biosynthetic process; phospholipid biosynthetic process | 17q25.3 |
| PDAP1 | signal transduction; cell proliferation | 7q22.1 |
| PDCD1 | peptidyl-tyrosine dephosphorylation; T cell costimulation; multicellular organismal development; signal transduction; humoral immune response; apoptotic process | 2q37.3 |
| PDCD10 | positive regulation of MAP kinase activity; angiogenesis; negative regulation of apoptotic process; positive regulation of cell proliferation | 3q26.1 |
| PDCD11 | rRNA processing; mRNA processing | 10q24.33 |
| PDCD1LG2 | immune response; T cell costimulation; peptidyl-tyrosine dephosphorylation; positive regulation of T cell proliferation; negative regulation of T cell proliferation | 9p24.2 |
| PDCD2 | apoptotic process | 6q27 |
| PDCD2L | cell cycle | 19q13.11 |
| PDCD4 | negative regulation of JUN kinase activity; cell aging; negative regulation of cell cycle; negative regulation of transcription, DNA-dependent; apoptotic process | 10q24 |
| PDCD4-AS1 | - | 10q25.2 |
| PDCD5 | apoptotic process; induction of apoptosis | 19q13.11 |
| PDCD6 | intracellular protein transport; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis by extracellular signals; cellular response to stress; response to calcium ion | 5p15.33 |
| PDCD6IP | apoptotic process; cell cycle; protein transport; interspecies interaction between organisms; cell division | 3p22.3 |
| PDCD6IPP2 | - | 15q13.1 |
| PDCD7 | response to glucocorticoid stimulus; apoptotic process; induction of apoptosis; RNA splicing | 15q22.31 |
| PDCL | visual perception; response to stimulus; signal transduction | 9q12-q13 |
| PDCL2 | - | 4q12 |
| PDCL3 | interspecies interaction between organisms; apoptotic process | 2q11.2 |
| PDCL3P3 | - | 3p24.3 |
| PDCL3P4 | - | 3q12.3 |
| PDCL3P5 | - | 6q25.1 |
| PDCL3P6 | - | - |
| PDDC1 | - | 11p15.5 |
| PDE10A | blood coagulation; signal transduction | 6q26 |
| PDE11A | cAMP catabolic process; cGMP catabolic process; blood coagulation; signal transduction | 2q31.2 |
| PDE12 | - | 3p14.3 |
| PDE1A | blood coagulation; signal transduction; epidermal growth factor receptor signaling pathway; activation of phospholipase C activity; fibroblast growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway | 2q32.1 |
| PDE1B | locomotory behavior; serotonin metabolic process; regulation of dopamine metabolic process; cellular response to macrophage colony-stimulating factor stimulus; monocyte differentiation; fibroblast growth factor receptor signaling pathway; visual learning; blood coagulation; cellular response to granulocyte macrophage colony-stimulating factor stimulus; nerve growth factor receptor signaling pathway; cGMP catabolic process; regulation of neurotransmitter levels; response to amphetamine; cAMP catabolic process; apoptotic process; signal transduction; epidermal growth factor receptor signaling pathway; activation of phospholipase C activity | 12q13 |
| PDE1C | signal transduction; epidermal growth factor receptor signaling pathway; activation of phospholipase C activity; fibroblast growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway | 7p14.3 |
| PDE2A | cGMP-mediated signaling; negative regulation of transcription from RNA polymerase II promoter; cAMP catabolic process; protein targeting to mitochondrion; signal transduction; blood coagulation; metabolic process; cAMP-mediated signaling; cellular response to granulocyte macrophage colony-stimulating factor stimulus; monocyte differentiation; negative regulation of cAMP biosynthetic process; negative regulation of protein import into nucleus, translocation; cellular response to drug; cellular response to macrophage colony-stimulating factor stimulus; negative regulation of vascular permeability; cellular response to transforming growth factor beta stimulus; cellular response to cGMP; cellular response to mechanical stimulus; calcium ion transmembrane transport; establishment of endothelial barrier; positive regulation of inflammatory response; cGMP catabolic process; positive regulation of vascular permeability | 11q13.4 |
| PDE3A | cAMP catabolic process; oocyte maturation; negative regulation of apoptotic process; cellular response to transforming growth factor beta stimulus; cellular response to cGMP; positive regulation of oocyte development; response to cAMP; positive regulation of vascular permeability; negative regulation of vascular permeability; response to drug; regulation of meiosis; cGMP-mediated signaling; cAMP-mediated signaling; blood coagulation; signal transduction; lipid metabolic process | 12p12 |
| PDE3B | negative regulation of cell adhesion mediated by integrin; cAMP catabolic process; negative regulation of cell adhesion; signal transduction; blood coagulation; insulin receptor signaling pathway; endocrine pancreas development; cellular response to insulin stimulus; glucose homeostasis; negative regulation of cAMP-mediated signaling; negative regulation of insulin secretion; negative regulation of lipid catabolic process | 11p15.1 |
| PDE4A | cAMP catabolic process; signal transduction; response to drug | 19p13.2 |
| PDE4B | cAMP catabolic process; signal transduction | 1p31 |
| PDE4C | negative regulation of insulin secretion; signal transduction; cAMP catabolic process | 19p13.11 |
| PDE4D | establishment of endothelial barrier; signal transduction; cAMP catabolic process | 5q12 |
| PDE4DIP | cellular protein complex assembly | 1q12 |
| PDE5A | positive regulation of MAP kinase activity; positive regulation of oocyte development; relaxation of cardiac muscle; regulation of the force of heart contraction; cyclic nucleotide metabolic process; positive regulation of cardiac muscle hypertrophy; response to lipopolysaccharide; response to testosterone stimulus; blood coagulation; nervous system development; signal transduction; positive regulation of chronic inflammatory response; negative regulation of cardiac muscle contraction; response to hypoxia; negative regulation of T cell proliferation; vasodilation; positive regulation of apoptotic process; short-term memory; positive regulation of vasoconstriction; cGMP catabolic process | 4q27 |
| PDE6A | cytosolic calcium ion homeostasis; signal transduction; blood coagulation; visual perception; retina development in camera-type eye; response to stimulus; GMP metabolic process | 5q31.2-q34 |
| PDE6B | cytosolic calcium ion homeostasis; response to stimulus; GMP metabolic process; detection of light stimulus; phototransduction, visible light; visual perception; blood coagulation; signal transduction; retina development in camera-type eye | 4p16.3 |
| PDE6C | phototransduction, visible light; signal transduction; visual perception; retinal cone cell development; response to stimulus | 10q24 |
| PDE6D | regulation of GTP catabolic process; visual perception; negative regulation of catalytic activity; response to stimulus | 2q35-q36 |
| PDE6G | activation of MAPK activity; blood coagulation; visual perception; negative regulation of catalytic activity; positive regulation of epidermal growth factor receptor signaling pathway; positive regulation of G-protein coupled receptor protein signaling pathway; response to stimulus | 17q25 |
| PDE7A | signal transduction; cAMP-mediated signaling | 8q13 |
| PDE7B | signal transduction; synaptic transmission | 6q23-q24 |
| PDE8A | regulation of transcription, DNA-dependent; cyclic nucleotide metabolic process | 15q25.3 |
| PDE8B | regulation of transcription, DNA-dependent; cyclic nucleotide metabolic process; negative regulation of insulin secretion | 5q13.3 |
| PDE9A | blood coagulation; signal transduction | 21q22.3 |
| PDF | peptidyl-methionine modification; positive regulation of cell proliferation; translation; N-terminal protein amino acid modification | 16q22.1 |
| PDGFA | regulation of DNA biosynthetic process; regulation of glomerular mesangial cell proliferation; positive regulation of ERK1 and ERK2 cascade; regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling; positive regulation of protein kinase B signaling cascade; positive regulation of cell division; negative chemotaxis; regulation of peptidyl-tyrosine phosphorylation; inner ear development; lung alveolus development; positive regulation of fibroblast proliferation; platelet-derived growth factor receptor signaling pathway; positive regulation of DNA replication; cell-cell signaling; negative regulation of phosphatidylinositol biosynthetic process; response to inorganic substance; response to organic substance; organ morphogenesis; embryo development; response to wounding; positive regulation of cell proliferation; blood coagulation; positive regulation of MAPK cascade; transforming growth factor beta receptor signaling pathway; platelet degranulation; positive regulation | 7p22 |
| PDGFB | positive regulation of protein tyrosine kinase activity; cell chemotaxis; positive regulation of cell division; positive regulation of chemotaxis; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of smooth muscle cell proliferation; positive regulation of fibroblast proliferation; platelet-derived growth factor receptor signaling pathway; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of ERK1 and ERK2 cascade; cellular response to mycophenolic acid; positive regulation of glomerular mesangial cell proliferation; metanephric glomerular mesangial cell development; reactive oxygen species metabolic process; positive regulation of calcium ion import; positive regulation of reactive oxygen species metabolic process; positive regulation of DNA biosynthetic process; positive regulation of metanephric mesenchymal cell migration; transforming growth factor beta receptor signaling pathway; positive regulation of | 22q13.1 |
| PDGFC | multicellular organismal development; central nervous system development; positive regulation of DNA replication; platelet-derived growth factor receptor signaling pathway; vascular endothelial growth factor receptor signaling pathway; positive regulation of fibroblast proliferation; positive regulation of cell division | 4q32 |
| PDGFD | cellular response to amino acid stimulus; positive regulation of cell division; regulation of peptidyl-tyrosine phosphorylation; multicellular organismal development | 11q22.3 |
| PDGFRA | embryonic cranial skeleton morphogenesis; embryonic skeletal system morphogenesis; inner ear development; regulation of chemotaxis; cardiac myofibril assembly; response to hyperoxia; palate development; face morphogenesis; cell chemotaxis; retina vasculature development in camera-type eye; positive regulation of ERK1 and ERK2 cascade; platelet aggregation; cellular response to amino acid stimulus; metanephric glomerular capillary formation; regulation of actin cytoskeleton reorganization; regulation of mesenchymal stem cell differentiation; embryonic digestive tract morphogenesis; response to hormone stimulus; lung development; extracellular matrix organization; signal transduction involved in regulation of gene expression; peptidyl-tyrosine phosphorylation; positive regulation of phosphatidylinositol 3-kinase cascade; positive regulation of phospholipase C activity; negative regulation of platelet activation; response to inorganic substance; positive regulation of fibroblast proliferation; female gonad devel | 4q12 |
| PDGFRB | cell migration involved in coronary angiogenesis; cell chemotaxis; cardiac myofibril assembly; regulation of peptidyl-tyrosine phosphorylation; smooth muscle tissue development; skeletal system morphogenesis; positive regulation of smooth muscle cell proliferation; phosphatidylinositol-mediated signaling; vascular endothelial growth factor receptor signaling pathway; retina vasculature development in camera-type eye; positive regulation of ERK1 and ERK2 cascade; smooth muscle cell chemotaxis; metanephric glomerular mesangial cell proliferation involved in metanephros development; metanephric glomerular capillary formation; positive regulation of calcium ion import; positive regulation of reactive oxygen species metabolic process; positive regulation of DNA biosynthetic process; positive regulation of chemotaxis; protein autophosphorylation; in utero embryonic development; kidney development; tissue homeostasis; nitrogen compound metabolic process; signal transduction; multicellular organismal development; pos | 5q33.1 |
| PDGFRL | platelet-derived growth factor receptor-beta signaling pathway | 8p22-p21.3 |
| PDHA1 | small molecule metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; metabolic process; glycolysis; pyruvate metabolic process | Xp22.1 |
| PDHB | tricarboxylic acid cycle; pyruvate metabolic process; glycolysis; small molecule metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate | 3p21.1-p14.2 |
| PDHX | regulation of acetyl-CoA biosynthetic process from pyruvate; small molecule metabolic process; pyruvate metabolic process | 11p13 |
| PDIA2 | response to hypoxia; protein folding; protein retention in ER lumen; glycerol ether metabolic process; apoptotic process; cell redox homeostasis | 16p13.3 |
| PDIA3 | positive regulation of apoptotic process; protein N-linked glycosylation via asparagine; antigen processing and presentation of exogenous peptide antigen via MHC class I; signal transduction; glycerol ether metabolic process; protein retention in ER lumen; protein import into nucleus; protein folding; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I; cell redox homeostasis; cellular protein metabolic process; post-translational protein modification | 15q15 |
| PDIA3P1 | - | 1q21.1 |
| PDIA4 | protein secretion; cell redox homeostasis; glycerol ether metabolic process | 7q35 |
| PDIA6 | protein folding; glycerol ether metabolic process; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response; cell redox homeostasis | 2p25.1 |
| PDIK1L | - | 1p36.11 |
| PDK1 | small molecule metabolic process; peptidyl-histidine phosphorylation; regulation of acetyl-CoA biosynthetic process from pyruvate; small GTPase mediated signal transduction; cell surface receptor signaling pathway; protein phosphorylation; pyruvate metabolic process; glucose metabolic process; carbohydrate metabolic process | 2q31.1 |
| PDK2 | small molecule metabolic process; peptidyl-histidine phosphorylation; regulation of acetyl-CoA biosynthetic process from pyruvate; protein phosphorylation; pyruvate metabolic process; glucose metabolic process; carbohydrate metabolic process | 17q21.33 |
| PDK3 | regulation of acetyl-CoA biosynthetic process from pyruvate; peptidyl-histidine phosphorylation; small molecule metabolic process; protein phosphorylation; pyruvate metabolic process; glucose metabolic process; carbohydrate metabolic process | Xp22.11 |
| PDK4 | pyruvate metabolic process; peptidyl-histidine phosphorylation; carbohydrate metabolic process; glucose metabolic process; protein phosphorylation; regulation of acetyl-CoA biosynthetic process from pyruvate; small molecule metabolic process | 7q21.3 |
| PDLIM1 | regulation of transcription, DNA-dependent; response to hypoxia; response to oxidative stress | 10q23.1 |
| PDLIM1P | - | 14q21.3 |
| PDLIM2 | - | 8p21.3 |
| PDLIM3 | actin filament organization; heart development | 4q35 |
| PDLIM4 | - | 5q31.1 |
| PDLIM5 | regulation of dendritic spine morphogenesis; regulation of synapse assembly | 4q22 |
| PDLIM7 | ossification; positive regulation of osteoblast differentiation; cell differentiation; actin cytoskeleton organization; multicellular organismal development; receptor-mediated endocytosis | 5q35.3 |
| PDP1 | small molecule metabolic process; peptidyl-threonine dephosphorylation; pyruvate metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate | 8q22.1 |
| PDP2 | protein dephosphorylation; pyruvate metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; small molecule metabolic process | 16q22.1 |
| PDPK1 | platelet activation; protein phosphorylation; negative regulation of protein kinase activity; hyperosmotic response; epidermal growth factor receptor signaling pathway; synaptic transmission; blood coagulation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; phosphorylation; peptidyl-threonine phosphorylation; actin cytoskeleton organization; nerve growth factor receptor signaling pathway; negative regulation of transforming growth factor beta receptor signaling pathway; T cell costimulation; T cell receptor signaling pathway; positive regulation of establishment of protein localization in plasma membrane; focal adhesion assembly; phosphatidylinositol-mediated signaling; activation of protein kinase B activity; cellular response to insulin stimulus; intracellular signal transduction; regulation of apoptotic process; regulation of I-kappaB kinase/NF-kappaB cascade; protein autophosphorylation; regulation of transcription, DNA-dependent | 16p13.3 |
| PDPN | water transport; folic acid transport; response to hyperoxia; positive regulation of cellular component movement; lung alveolus development; tube morphogenesis; positive regulation of cell migration; lung development; cell-cell adhesion; positive regulation of platelet activation; embryo development; regulation of cell shape; cell morphogenesis; lymphangiogenesis; prostaglandin metabolic process; cell proliferation; nervous system development; amino acid transport; signal transduction; inflammatory response; cell cycle | 1p36.21 |
| PDPR | regulation of acetyl-CoA biosynthetic process from pyruvate; glycine catabolic process; pyruvate metabolic process; small molecule metabolic process | 16q22.1 |
| PDRG1 | protein folding | 20q11.21 |
| PDS5A | cell division; negative regulation of DNA replication; mitosis; cell cycle | 4p14 |
| PDS5B | mitosis; cell proliferation; negative regulation of cell proliferation; regulation of cell proliferation; mitotic sister chromatid cohesion; cell cycle; cell division | 13q12.3 |
| PDSS1 | protein heterotetramerization; ubiquinone biosynthetic process; isoprenoid biosynthetic process | 10p12.1 |
| PDSS2 | protein heterotetramerization; regulation of body fluid levels; isoprenoid biosynthetic process; ubiquinone biosynthetic process | 6q21 |
| PDX1 | detection of glucose; organ morphogenesis; digestive tract development; positive regulation of transcription from RNA polymerase II promoter; glucose homeostasis; endocrine pancreas development; exocrine pancreas development; positive regulation of cell proliferation; multicellular organismal development; nitric oxide mediated signal transduction; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; generation of precursor metabolites and energy; glucose metabolic process; type B pancreatic cell differentiation; liver development; negative regulation of transcription from RNA polymerase II promoter; insulin secretion; morphogenesis of embryonic epithelium; negative regulation of cell proliferation | 13q12.1 |
| PDXDC1 | carboxylic acid metabolic process | 16p13.11 |
| PDXDC2P | carboxylic acid metabolic process | 16q22.1 |
| PDXK | pyridoxal phosphate biosynthetic process; water-soluble vitamin metabolic process; vitamin metabolic process; cell proliferation; pyridoxal 5'-phosphate salvage; vitamin B6 metabolic process; small molecule metabolic process | 21q22.3 |
| PDXP | protein dephosphorylation; regulation of mitosis; metabolic process; positive regulation of actin filament depolymerization; actin rod assembly; regulation of cytokinesis; cellular response to ATP | 22q12.3 |
| PDYN | neuropeptide signaling pathway; synaptic transmission; cell death | 20p13 |
| PDZD11 | - | Xq13.1 |
| PDZD2 | cell adhesion | 5p13.3 |
| PDZD3 | negative regulation of cGMP biosynthetic process; ion transport; water transport; receptor guanylyl cyclase signaling pathway; response to toxin; cGMP-mediated signaling | 11q23.3 |
| PDZD4 | - | Xq28 |
| PDZD7 | - | 10q24.31 |
| PDZD8 | cytoskeleton organization; regulation of cell morphogenesis; interspecies interaction between organisms; intracellular signal transduction | 10q26.12 |
| PDZD9 | - | 16p12.2 |
| PDZK1 | positive regulation of ion transmembrane transport; drug transport; carnitine transport; cell proliferation; transport | 1q21 |
| PDZK1IP1 | - | 1p33 |
| PDZK1P2 | - | 1q21.2 |
| PDZRN3 | neuromuscular junction development; protein ubiquitination | 3p13 |
| PDZRN4 | - | 12q12 |
| PEA15 | regulation of apoptotic process; carbohydrate transport; response to morphine; negative regulation of glucose import; transport; anti-apoptosis | 1q21.1 |
| PEAK1 | - | 15q24.3 |
| PEAR1 | recognition of apoptotic cell | 1q23.1 |
| PEBP1 | positive regulation of mitosis; regulation of neurotransmitter levels; negative regulation of protein phosphorylation; regulation of the force of heart contraction; response to oxidative stress; spermatid development; brain development; aging; response to heat; response to wounding; response to toxin; response to organic nitrogen; response to organic cyclic compound; response to activity; response to drug; eating behavior; negative regulation of MAPK cascade; positive regulation of acetylcholine metabolic process; positive regulation of cAMP-mediated signaling; response to ethanol; response to corticosterone stimulus; response to cAMP; response to calcium ion; response to electrical stimulus | 12q24.23 |
| PEBP1P3 | - | 1q31.3 |
| PEBP4 | - | 8p21.3 |
| PECAM1 | platelet activation; cell recognition; blood coagulation; signal transduction; cell adhesion; phagocytosis; platelet degranulation; leukocyte migration; diapedesis; glomerular endothelium development | 17q23.3 |
| PECR | oxidation-reduction process; fatty acid biosynthetic process; phytol metabolic process; regulation of apoptotic process | 2q35 |
| PEF1 | response to calcium ion | 1p34 |
| PEG10 | negative regulation of transforming growth factor beta receptor signaling pathway; cell differentiation; apoptotic process | 7q21 |
| PEG3 | apoptotic process; viral reproduction | 19q13.4 |
| PEG3-AS1 | - | 19q13.43 |
| PELI1 | toll-like receptor 1 signaling pathway; positive regulation of cytokine production; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; Toll signaling pathway; positive regulation of B cell proliferation; positive regulation of protein ubiquitination; response to lipopolysaccharide; innate immune response; response to dsRNA; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of toll-like receptor 4 signaling pathway; toll-like receptor 4 signaling pathway; positive regulation of toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway | 2p13.3 |
| PELI2 | toll-like receptor 2 signaling pathway; positive regulation of protein phosphorylation; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; innate immune response; positive regulation of MAPK cascade; Toll signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; toll-like receptor 4 signaling pathway; toll-like receptor 1 signaling pathway | 14q21 |
| PELI3 | - | 11q13.2 |
| PELO | cell cycle; cell proliferation; chromosome organization; cell division | 5q11.2 |
| PELP1 | transcription, DNA-dependent | 17p13.2 |
| PEMT | response to drug; positive regulation of lipoprotein metabolic process; S-adenosylmethionine metabolic process; S-adenosylhomocysteine metabolic process; response to ethanol; response to amino acid stimulus; glycerophospholipid metabolic process; response to vitamin; phospholipid biosynthetic process; negative regulation of cell proliferation; lipid metabolic process; cell proliferation; phosphatidylcholine biosynthetic process | 17p11.2 |
| PENK | sensory perception of pain; behavioral fear response; signal transduction; neuropeptide signaling pathway; behavior | 8q23-q24 |
| PEPD | proteolysis; cellular amino acid metabolic process; metabolic process; cellular process; collagen catabolic process | 19q13.11 |
| PER2 | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; circadian rhythm | 2q37.3 |
| PER3 | circadian rhythm; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 1p36.23 |
| PERM1 | - | 1p36.33 |
| PERP | cell adhesion; apoptotic process | 6q24 |
| PES1 | rRNA processing; mitotic metaphase; cell proliferation; ribosomal large subunit biogenesis; regulation of cell cycle; nucleolus organization; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 22q12.1 |
| PES1P1 | - | 4q28.3 |
| PES1P2 | - | 9p23 |
| PET100 | - | 19p13.2 |
| PET117 | - | 20p11.23 |
| PEX1 | protein transport; protein import into peroxisome matrix; microtubule-based peroxisome localization; peroxisome organization; protein targeting to peroxisome | 7q21.2 |
| PEX10 | protein import into peroxisome matrix; peroxisome organization | 1p36.32 |
| PEX11A | small molecule metabolic process; peroxisome membrane biogenesis; peroxisome fission; cellular lipid metabolic process; signal transduction; peroxisome organization; brown fat cell differentiation | 15q26.1 |
| PEX11B | peroxisome organization; signal transduction; peroxisome fission | 1q21.1 |
| PEX11G | - | 19p13.2 |
| PEX12 | protein import into peroxisome matrix; peroxisome organization; protein targeting to peroxisome | 17q12 |
| PEX13 | protein import into peroxisome matrix, docking; fatty acid alpha-oxidation; neuron migration; suckling behavior; locomotory behavior; protein transport; cerebral cortex cell migration; microtubule-based peroxisome localization | 2p16.1 |
| PEX14 | peroxisome organization; protein transport; protein import into peroxisome matrix; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of transcription, DNA-dependent; protein homooligomerization | 1p36.22 |
| PEX16 | protein import into peroxisome matrix; peroxisome membrane biogenesis; peroxisome organization; protein targeting to peroxisome; ER-dependent peroxisome organization; protein import into peroxisome membrane | 11p11.2 |
| PEX19 | peroxisome membrane biogenesis; protein import into peroxisome membrane; transmembrane transport; chaperone-mediated protein transport; peroxisome organization; protein targeting to peroxisome | 1q23.2 |
| PEX2 | cholesterol homeostasis; negative regulation of epithelial cell proliferation; negative regulation of fibroblast proliferation; negative regulation of transcription from RNA polymerase II promoter; neuron migration; bile acid biosynthetic process; peroxisome organization; nervous system development; protein destabilization; regulation of cholesterol biosynthetic process | 8q21.1 |
| PEX26 | protein import into peroxisome membrane; protein import into peroxisome matrix; protein transport | 22q11.21 |
| PEX3 | protein import into peroxisome membrane; peroxisome membrane biogenesis; peroxisome organization; transmembrane transport | 6q24.2 |
| PEX5 | protein targeting to peroxisome; protein transport; protein import into peroxisome matrix, translocation; protein tetramerization | 12p13.31 |
| PEX5L | regulated secretory pathway; protein import into peroxisome matrix; regulation of cAMP-mediated signaling; positive regulation of corticotropin secretion | 3q26.33 |
| PEX6 | peroxisome organization; ATP catabolic process; protein targeting to peroxisome; protein import into peroxisome matrix, translocation; protein stabilization | 6p21.1 |
| PEX7 | neuron migration; endochondral ossification; fatty acid beta-oxidation; ether lipid biosynthetic process; protein transport; protein import into peroxisome matrix | 6q23.3 |
| PF4 | platelet degranulation; chemotaxis; immune response; blood coagulation; positive regulation of gene expression; positive regulation of macrophage derived foam cell differentiation; cytokine-mediated signaling pathway; platelet activation; leukocyte chemotaxis; positive regulation of tumor necrosis factor production; negative regulation of apoptotic process; negative regulation of MHC class II biosynthetic process; positive regulation of macrophage differentiation; negative regulation of megakaryocyte differentiation; negative regulation of cytolysis; negative regulation of angiogenesis | 4q12-q21 |
| PF4V1 | immune response | 4q12-q21 |
| PFAS | 'de novo' IMP biosynthetic process; nucleobase-containing small molecule metabolic process; small molecule metabolic process; purine ribonucleoside monophosphate biosynthetic process; glutamine metabolic process; purine nucleotide biosynthetic process; purine base metabolic process | 17p13.1 |
| PFDN1 | regulation of transcription, DNA-dependent; protein folding; cell cycle; cellular protein metabolic process; 'de novo' posttranslational protein folding | 5q31 |
| PFDN2 | 'de novo' posttranslational protein folding; protein folding; cellular protein metabolic process | 1q23.3 |
| PFDN4 | protein folding; cellular protein metabolic process; 'de novo' posttranslational protein folding | 20q13.2 |
| PFDN5 | cellular protein metabolic process; negative regulation of transcription, DNA-dependent; 'de novo' posttranslational protein folding; negative regulation of canonical Wnt receptor signaling pathway; regulation of transcription, DNA-dependent; protein folding | 12q12 |
| PFKFB1 | response to glucagon stimulus; response to cAMP; response to glucocorticoid stimulus; carbohydrate phosphorylation; small molecule metabolic process; response to starvation; positive regulation of glucokinase activity; response to insulin stimulus; organ regeneration; intracellular protein kinase cascade; energy reserve metabolic process; glycolysis; gluconeogenesis; glucose metabolic process; fructose 2,6-bisphosphate metabolic process; carbohydrate metabolic process | Xp11.21 |
| PFKFB2 | carbohydrate metabolic process; fructose metabolic process; fructose 2,6-bisphosphate metabolic process; glucose metabolic process; lactate metabolic process; small molecule metabolic process; positive regulation of glucokinase activity; positive regulation of insulin secretion; response to glucose stimulus; pyruvate metabolic process; glycolysis | 1q31 |
| PFKFB3 | carbohydrate metabolic process; fructose 2,6-bisphosphate metabolic process; glucose metabolic process; glycolysis; small molecule metabolic process | 10p15.1 |
| PFKFB4 | fructose 2,6-bisphosphate metabolic process; carbohydrate metabolic process; glucose metabolic process; glycolysis; small molecule metabolic process | 3p22-p21 |
| PFKL | fructose 1,6-bisphosphate metabolic process; carbohydrate metabolic process; fructose 6-phosphate metabolic process; glucose metabolic process; glycolysis; response to glucose stimulus; small molecule metabolic process; negative regulation of insulin secretion; carbohydrate phosphorylation; protein oligomerization; protein homotetramerization | 21q22.3 |
| PFKM | carbohydrate phosphorylation; protein oligomerization; protein homotetramerization; positive regulation of insulin secretion; fructose 6-phosphate metabolic process; carbohydrate metabolic process; muscle cell homeostasis; small molecule metabolic process; glucose homeostasis; fructose 1,6-bisphosphate metabolic process; glycolysis; glucose metabolic process | 12q13.3 |
| PFKP | carbohydrate metabolic process; fructose 6-phosphate metabolic process; glucose metabolic process; glycolysis; fructose 1,6-bisphosphate metabolic process; small molecule metabolic process; protein homotetramerization | 10p15.3-p15.2 |
| PFN1 | blood coagulation; cellular response to growth factor stimulus; positive regulation of stress fiber assembly; positive regulation of DNA metabolic process; positive regulation of viral transcription; positive regulation of transcription from RNA polymerase II promoter; platelet activation; actin cytoskeleton organization; response to organic substance; platelet degranulation; neural tube closure | 17p13.3 |
| PFN1P1 | - | 1q24.3 |
| PFN1P10 | - | 1p36.12 |
| PFN1P2 | - | 1q21 |
| PFN1P4 | - | 1q21.1 |
| PFN1P7 | - | 1q21.1 |
| PFN2 | actin cytoskeleton organization; regulation of actin polymerization or depolymerization | 3q25.1 |
| PFN3 | actin cytoskeleton organization | 5q35.3 |
| PFN4 | actin cytoskeleton organization | 2p23.3 |
| PGA3 | - | 11q12.2 |
| PGAM1 | respiratory burst; carbohydrate metabolic process; glucose metabolic process; gluconeogenesis; glycolysis; regulation of glycolysis; regulation of pentose-phosphate shunt; small molecule metabolic process | 10q25.3 |
| PGAM1P10 | - | - |
| PGAM1P11 | - | - |
| PGAM1P12 | - | 15q26.2 |
| PGAM1P2 | - | 9p13.3 |
| PGAM1P4 | - | 3p25.3 |
| PGAM1P5 | - | 12q22 |
| PGAM1P6 | - | - |
| PGAM1P7 | - | - |
| PGAM1P9 | - | - |
| PGAM2 | striated muscle contraction; glycolysis; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process; spermatogenesis; response to inorganic substance; small molecule metabolic process; response to mercury ion | 7p13-p12 |
| PGAM4 | glycolysis | Xq13 |
| PGAM5 | - | 12q24.33 |
| PGAP1 | embryonic pattern specification; anterior/posterior axis specification; sensory perception of sound; intracellular protein transport; C-terminal protein lipidation; myo-inositol transport; attachment of GPI anchor to protein; forebrain regionalization; post-translational protein modification; cellular protein metabolic process; head development; nucleic acid phosphodiester bond hydrolysis | 2q33.1 |
| PGAP2 | protein transport; signal transduction in response to DNA damage; GPI anchor biosynthetic process; anti-apoptosis | 11p15.5 |
| PGAP3 | GPI anchor metabolic process; GPI anchor biosynthetic process | 17q12 |
| PGBD1 | viral reproduction | 6p22.1 |
| PGBD2 | - | 1q44 |
| PGBD3 | - | 10q11 |
| PGBD3P1 | - | 12q13.12 |
| PGBD4 | - | 15q14 |
| PGBD5 | - | 1q42.13 |
| PGC | proteolysis; digestion | 6p21.1 |
| PGCP1 | - | 1p13.2 |
| PGD | carbohydrate metabolic process; pentose-phosphate shunt; pentose-phosphate shunt, oxidative branch; pentose biosynthetic process; small molecule metabolic process; oxidation-reduction process | 1p36.22 |
| PGDP1 | - | 18q12.1 |
| PGF | positive regulation of cell proliferation; positive regulation of cell division; vascular endothelial growth factor receptor signaling pathway; cell differentiation; multicellular organismal development; cell-cell signaling; signal transduction; angiogenesis | 14q24.3 |
| PGGT1B | positive regulation of cell proliferation; protein geranylgeranylation; response to cytokine stimulus; positive regulation of cell cycle | 5q22.3 |
| PGGT1BP1 | - | 10q11.23 |
| PGGT1BP2 | - | 10q22.3 |
| PGK1 | carbohydrate metabolic process; small molecule metabolic process; phosphorylation; glycolysis; gluconeogenesis; glucose metabolic process | Xq13.3 |
| PGK1P1 | - | Xq12 |
| PGK1P2 | - | 19p13.3 |
| PGLS | pentose-phosphate shunt; carbohydrate metabolic process; small molecule metabolic process; pentose-phosphate shunt, oxidative branch | 19p13.2 |
| PGLYRP2 | peptide amidation; defense response to Gram-positive bacterium; innate immune response; detection of bacterium; peptidoglycan catabolic process | 19p13.12 |
| PGLYRP3 | defense response to Gram-positive bacterium; innate immune response; detection of bacterium; peptidoglycan catabolic process | 1q21 |
| PGLYRP4 | peptidoglycan catabolic process; detection of bacterium; innate immune response; defense response to Gram-positive bacterium | 1q21 |
| PGM1 | carbohydrate metabolic process; glycogen biosynthetic process; glycogen catabolic process; trehalose biosynthetic process; glucose metabolic process; glucose 1-phosphate metabolic process; galactose catabolic process; small molecule metabolic process | 1p31 |
| PGM2 | carbohydrate metabolic process; glucose 1-phosphate metabolic process; small molecule metabolic process; glycogen catabolic process; glucose metabolic process; glycogen biosynthetic process | 4p14 |
| PGM2L1 | glucose 1-phosphate metabolic process; carbohydrate metabolic process | 11q13.4 |
| PGM3 | glucose 1-phosphate metabolic process; carbohydrate metabolic process; glucosamine metabolic process; UDP-N-acetylglucosamine biosynthetic process; embryo development ending in birth or egg hatching; protein N-linked glycosylation via asparagine; dolichol-linked oligosaccharide biosynthetic process; hemopoiesis; post-translational protein modification; cellular protein metabolic process | 6q14.1-q15 |
| PGM5 | trehalose biosynthetic process; galactose catabolic process; glucose 1-phosphate metabolic process; cell adhesion; glycogen biosynthetic process; carbohydrate metabolic process | 9q13 |
| PGM5-AS1 | - | 9q13 |
| PGM5P1 | - | 9q21.11 |
| PGM5P2 | - | 9q12 |
| PGP | carbohydrate metabolic process; metabolic process | 16p13.3 |
| PGPEP1 | proteolysis | 19p13.11 |
| PGPEP1L | proteolysis | 15q26.3 |
| PGR | regulation of epithelial cell proliferation; progesterone receptor signaling pathway; tertiary branching involved in mammary gland duct morphogenesis; steroid hormone mediated signaling pathway; mammary gland development; negative regulation of gene expression; cell-cell signaling; signal transduction; epithelial cell maturation; ovulation from ovarian follicle; gene expression | 11q22-q23 |
| PGRMC1 | - | Xq22-q24 |
| PGRMC2 | steroid hormone mediated signaling pathway | 4q26 |
| PGS1 | phospholipid biosynthetic process; phosphatidylglycerol biosynthetic process; diacylglycerol metabolic process; cardiolipin biosynthetic process | 17q25.3 |
| PHACTR1 | - | 6p24.1 |
| PHACTR2 | - | 6q24.2 |
| PHACTR2-AS1 | - | 6q24.2 |
| PHACTR3 | - | 20q13.32-q13.33 |
| PHACTR4 | - | 1p35.3 |
| PHAX | snRNA export from nucleus; gene expression; protein transport; RNA metabolic process; ncRNA metabolic process; spliceosomal snRNP assembly | 5q23.2 |
| PHB | signal transduction; negative regulation of glucocorticoid receptor signaling pathway; cellular response to interleukin-6; negative regulation of androgen receptor signaling pathway; progesterone receptor signaling pathway; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; regulation of apoptotic process; negative regulation of cell growth; histone deacetylation; negative regulation of transcription by competitive promoter binding; negative regulation of cell proliferation; regulation of transcription, DNA-dependent; DNA replication; negative regulation of transcription from RNA polymerase II promoter | 17q21 |
| PHB2 | negative regulation of transcription, DNA-dependent | 12p13 |
| PHB2P1 | - | 10q25.1 |
| PHBP1 | - | 6q25 |
| PHBP11 | - | 1q41 |
| PHBP13 | - | - |
| PHBP3 | - | 1p32.1 |
| PHBP7 | - | 9q21 |
| PHBP8 | - | - |
| PHBP9 | - | 10q24.31 |
| PHC1 | multicellular organismal development | 12p13 |
| PHC1P1 | - | 12q13.2 |
| PHC2 | spermatogenesis; multicellular organismal development | 1p34.3 |
| PHC3 | multicellular organismal development | 3q26.2 |
| PHEX | proteolysis; cell-cell signaling; biomineral tissue development; skeletal system development; protein modification process | Xp22.2-p22.1 |
| PHF1 | regulation of transcription, DNA-dependent; chromatin modification | 6p21.3 |
| PHF10 | nervous system development; regulation of transcription, DNA-dependent | 6q27|Xq28 |
| PHF11 | regulation of transcription, DNA-dependent | 13q14.2 |
| PHF12 | negative regulation of transcription, DNA-dependent | 17q11.2 |
| PHF13 | mitotic cell cycle; cell division; chromatin modification; mitotic chromosome condensation; mitosis; chromosome segregation | 1p36.31 |
| PHF14 | - | 7p21.3 |
| PHF19 | regulation of transcription, DNA-dependent | 9q33.2 |
| PHF2 | liver development; regulation of transcription, DNA-dependent; protein demethylation; chromatin modification; histone H3-K9 demethylation; negative regulation of chromatin silencing at rDNA | 9q22.31 |
| PHF20 | histone H4-K16 acetylation; histone H4-K8 acetylation; histone H4-K5 acetylation; regulation of transcription, DNA-dependent | 20q11.22-q11.23 |
| PHF20L1 | - | 8q24.22 |
| PHF21A | blood coagulation; negative regulation of transcription from RNA polymerase II promoter; chromatin modification; regulation of transcription, DNA-dependent; suckling behavior | 11p11.2 |
| PHF21B | - | 22q13.31 |
| PHF23 | - | 17p13.1 |
| PHF24 | - | 9p13.3 |
| PHF2P1 | - | 13q11 |
| PHF2P2 | - | - |
| PHF3 | transcription, DNA-dependent; multicellular organismal development | 6q12 |
| PHF5A | nuclear mRNA splicing, via spliceosome; positive regulation of transcription, DNA-dependent; gene expression; RNA splicing | 22q13.2 |
| PHF5CP | - | 19p12 |
| PHF5GP | - | 2q24.3 |
| PHF5HP | - | 15q26.3 |
| PHF6 | regulation of transcription, DNA-dependent | Xq26.3 |
| PHF7 | - | 3p21.1 |
| PHF8 | positive regulation of transcription from RNA polymerase I promoter; G1/S transition of mitotic cell cycle; cell cycle; brain development; chromatin modification; histone H3-K9 demethylation; histone H4-K20 demethylation; positive regulation of transcription, DNA-dependent; negative regulation of chromatin silencing at rDNA; histone H3-K36 demethylation; histone H3-K27 demethylation | Xp11.22 |
| PHGDH | brain development; cellular amino acid biosynthetic process; cellular nitrogen compound metabolic process; L-serine biosynthetic process; small molecule metabolic process | 1p12 |
| PHGR1 | - | 15q15.1 |
| PHIP | positive regulation of mitosis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of insulin-like growth factor receptor signaling pathway; positive regulation of transcription, DNA-dependent; negative regulation of apoptotic process; regulation of growth; positive regulation of peptidyl-serine phosphorylation; regulation of cell morphogenesis; positive regulation of peptidyl-threonine phosphorylation; insulin receptor signaling pathway; positive regulation of cell proliferation; protein import into nucleus; cytoskeleton organization; regulation of protein phosphorylation | 6q14 |
| PHKA1 | glycogen metabolic process; carbohydrate metabolic process; polysaccharide metabolic process; glycogen catabolic process; glucose metabolic process; generation of precursor metabolites and energy; small molecule metabolic process; protein autophosphorylation | Xq12-q13 |
| PHKA1P1 | - | 1p22.2 |
| PHKA2 | generation of precursor metabolites and energy; carbohydrate metabolic process; polysaccharide metabolic process; glycogen catabolic process; small molecule metabolic process; protein modification process; glucose metabolic process | Xp22.2-p22.1 |
| PHKA2-AS1 | - | Xp22.13 |
| PHKB | small molecule metabolic process; generation of precursor metabolites and energy; glucose metabolic process; glycogen catabolic process; glycogen metabolic process; polysaccharide metabolic process; carbohydrate metabolic process | 16q12-q13 |
| PHKBP1 | - | 20p12.3-p12.2 |
| PHKG1 | carbohydrate metabolic process; small molecule metabolic process; glucose metabolic process; glycogen catabolic process; glycogen biosynthetic process | 7p11.2 |
| PHKG1P2 | - | 7q11.21 |
| PHKG2 | positive regulation of glycogen catabolic process; glycogen metabolic process; small molecule metabolic process; protein phosphorylation; generation of precursor metabolites and energy; glucose metabolic process; glycogen catabolic process; glycogen biosynthetic process; carbohydrate metabolic process | 16p11.2 |
| PHLDA1 | FasL biosynthetic process; induction of apoptosis; apoptotic process | 12q15 |
| PHLDA2 | organ morphogenesis; apoptotic process | 11p15.4 |
| PHLDA3 | DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; negative regulation of protein kinase B signaling cascade; anatomical structure morphogenesis; induction of apoptosis; apoptotic process | 1q31 |
| PHLDB1 | - | 11q23.3 |
| PHLDB2 | - | 3q13.2 |
| PHLDB3 | - | 19q13.31 |
| PHLPP1 | fibroblast growth factor receptor signaling pathway; circadian rhythm; epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; apoptotic process | 18q21.33 |
| PHLPP2 | - | 16q22.2 |
| PHOSPHO1 | metabolic process; regulation of bone mineralization | 17q21.32 |
| PHOSPHO2 | metabolic process | 2q31.1 |
| PHOX2A | noradrenergic neuron differentiation; regulation of transcription, DNA-dependent; somatic motor neuron differentiation; locus ceruleus development; regulation of respiratory gaseous exchange; parasympathetic nervous system development; sympathetic nervous system development; positive regulation of transcription from RNA polymerase II promoter | 11q13.2 |
| PHOX2B | multicellular organismal development; nervous system development; glial cell differentiation; cell differentiation in hindbrain; negative regulation of neuron differentiation; positive regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; cell development; cellular response to BMP stimulus; neuron migration; regulation of transcription, DNA-dependent; negative regulation of cell proliferation | 4p12 |
| PHPT1 | positive regulation of cell motility; negative regulation of lyase activity; negative regulation of T cell receptor signaling pathway; peptidyl-histidine dephosphorylation; protein dephosphorylation; regulation of actin cytoskeleton reorganization; negative regulation of ATP citrate synthase activity | 9q34.3 |
| PHRF1 | transcription from RNA polymerase II promoter; mRNA processing | 11p15.5 |
| PHTF1 | regulation of transcription, DNA-dependent | 1p13 |
| PHTF2 | regulation of transcription, DNA-dependent | 7q11.23-q21 |
| PHYH | fatty acid alpha-oxidation; cellular lipid metabolic process; small molecule metabolic process | 10p13 |
| PHYHD1 | - | 9q34.11 |
| PHYHIP | - | 8p21.3 |
| PHYHIPL | - | 10q11 |
| PHYKPL | - | 5q35.3 |
| PI15 | - | 8q21.11 |
| PI16 | - | 6p21.2 |
| PI3 | copulation; negative regulation of endopeptidase activity | 20q13.12 |
| PI4K2A | phosphatidylinositol biosynthetic process | 10q24 |
| PI4K2B | - | 4p15.2 |
| PI4KA | phosphatidylinositol-mediated signaling; synaptic transmission; signal transduction; phosphatidylinositol biosynthetic process | 22q11.21 |
| PI4KAP1 | phosphatidylinositol phosphorylation; phosphatidylinositol-mediated signaling | 22q11.21 |
| PI4KAP2 | phosphatidylinositol phosphorylation; phosphatidylinositol-mediated signaling | 22q11.21 |
| PI4KB | phosphatidylinositol biosynthetic process; phosphatidylinositol-mediated signaling; phosphatidylinositol phosphorylation; signal transduction; receptor-mediated endocytosis | 1q21 |
| PIANP | - | 12p13.31 |
| PIAS1 | positive regulation of transcription, DNA-dependent; positive regulation of protein sumoylation; interferon-gamma-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway; negative regulation of transcription from RNA polymerase II promoter; JAK-STAT cascade; cytokine-mediated signaling pathway; androgen receptor signaling pathway | 15q |
| PIAS2 | positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of androgen receptor signaling pathway; regulation of osteoblast differentiation; androgen receptor signaling pathway; protein sumoylation | 18q21.1 |
| PIAS3 | positive regulation of membrane potential; protein sumoylation; positive regulation of gene expression; response to hormone stimulus; regulation of transcription, DNA-dependent; positive regulation of protein sumoylation | 1q21 |
| PIAS4 | negative regulation of NF-kappaB transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; Wnt receptor signaling pathway; positive regulation of protein sumoylation; positive regulation of apoptotic process; negative regulation of transcription, DNA-dependent | 19p13.3 |
| PIBF1 | - | 13q22.1 |
| PICALM | regulation of protein localization; dendrite morphogenesis; positive regulation of transcription, DNA-dependent; receptor internalization; regulation of endocytosis; hemopoiesis; clathrin coat assembly; negative regulation of receptor-mediated endocytosis; protein complex assembly; endosome transport; vesicle-mediated transport; axonogenesis; receptor-mediated endocytosis | 11q14 |
| PICK1 | ATP catabolic process; monoamine transport; DNA methylation involved in embryo development; synaptic transmission; DNA methylation involved in gamete generation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; receptor clustering; neuronal ion channel clustering; retrograde vesicle-mediated transport, Golgi to ER; protein targeting; protein phosphorylation | 22q13.1 |
| PID1 | cellular response to tumor necrosis factor; regulation of G1/S transition of mitotic cell cycle; regulation of reactive oxygen species metabolic process; positive regulation of reactive oxygen species metabolic process; negative regulation of establishment of protein localization in plasma membrane; cellular response to fatty acid; negative regulation of insulin receptor signaling pathway; negative regulation of mitochondrial DNA replication; cellular response to interleukin-6; cellular response to cytokine stimulus; mitochondrion morphogenesis; positive regulation of fat cell proliferation; negative regulation of protein phosphorylation; energy reserve metabolic process; positive regulation of gene expression; regulation of mitochondrial membrane potential; regulation of mitochondrial fusion; fat cell differentiation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of glucose import in response to insulin stimulus; positive regulation of ATP biosynthetic process; neg | 2q36.3 |
| PIDD1 | response to DNA damage stimulus; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; signal transduction; negative regulation of apoptotic process | 11p15.5 |
| PIEZO1 | positive regulation of cell-cell adhesion mediated by integrin; positive regulation of integrin activation; ion transport | 16q24.3 |
| PIEZO1P2 | - | - |
| PIEZO2 | ion transport | 18p11.22 |
| PIF1 | negative regulation of telomerase activity; regulation of telomere maintenance | 15q22.31 |
| PIFO | - | 1p13.2 |
| PIGA | C-terminal protein lipidation; GPI anchor biosynthetic process; biosynthetic process; positive regulation of metabolic process; preassembly of GPI anchor in ER membrane; post-translational protein modification; cellular protein metabolic process | Xp22.1 |
| PIGAP1 | - | 12q21 |
| PIGB | preassembly of GPI anchor in ER membrane; C-terminal protein lipidation; cellular protein metabolic process; post-translational protein modification; GPI anchor biosynthetic process | 15q21.3 |
| PIGBOS1 | - | - |
| PIGC | preassembly of GPI anchor in ER membrane; cellular protein metabolic process; post-translational protein modification; GPI anchor biosynthetic process; C-terminal protein lipidation | 1q23-q25 |
| PIGCP2 | - | 7q31.1 |
| PIGF | C-terminal protein lipidation; GPI anchor biosynthetic process; preassembly of GPI anchor in ER membrane; post-translational protein modification; cellular protein metabolic process | 2p21-p16 |
| PIGG | cellular protein metabolic process; post-translational protein modification; preassembly of GPI anchor in ER membrane; GPI anchor biosynthetic process; C-terminal protein lipidation | 4p16.3 |
| PIGH | cellular protein metabolic process; post-translational protein modification; preassembly of GPI anchor in ER membrane; protein modification process; C-terminal protein lipidation; GPI anchor biosynthetic process | 14q24.1 |
| PIGK | proteolysis; protein thiol-disulfide exchange; C-terminal protein lipidation; attachment of GPI anchor to protein; post-translational protein modification; cellular protein metabolic process | 1p31.1 |
| PIGL | post-translational protein modification; C-terminal protein lipidation; GPI anchor biosynthetic process; cellular protein metabolic process; preassembly of GPI anchor in ER membrane | 17p12-p11.2 |
| PIGM | cellular protein metabolic process; preassembly of GPI anchor in ER membrane; C-terminal protein lipidation; post-translational protein modification | 1q23.2 |
| PIGN | cellular protein metabolic process; C-terminal protein lipidation; post-translational protein modification; preassembly of GPI anchor in ER membrane | 18q21.33 |
| PIGO | preassembly of GPI anchor in ER membrane; GPI anchor biosynthetic process; C-terminal protein lipidation; cellular protein metabolic process; post-translational protein modification | 9p13.3 |
| PIGP | preassembly of GPI anchor in ER membrane; cellular protein metabolic process; C-terminal protein lipidation; post-translational protein modification | 21q22.2 |
| PIGPP3 | - | 20q11.22 |
| PIGQ | carbohydrate metabolic process; C-terminal protein lipidation; preassembly of GPI anchor in ER membrane; post-translational protein modification; cellular protein metabolic process | 16p13.3 |
| PIGR | - | 1q31-q41 |
| PIGS | C-terminal protein lipidation; cellular protein metabolic process; post-translational protein modification; attachment of GPI anchor to protein | 17p13.2 |
| PIGT | C-terminal protein lipidation; attachment of GPI anchor to protein; neuron differentiation; post-translational protein modification; cellular protein metabolic process; neuron apoptosis | 20q12-q13.12 |
| PIGU | C-terminal protein lipidation; GPI anchor biosynthetic process; attachment of GPI anchor to protein; regulation of JAK-STAT cascade; cellular protein metabolic process; post-translational protein modification | 20q11.22 |
| PIGUP1 | - | - |
| PIGV | cellular protein metabolic process; post-translational protein modification; preassembly of GPI anchor in ER membrane; GPI anchor biosynthetic process; C-terminal protein lipidation | 1p36.11 |
| PIGW | cellular protein metabolic process; post-translational protein modification; preassembly of GPI anchor in ER membrane; C-terminal protein lipidation | 17q12 |
| PIGX | C-terminal protein lipidation; cellular protein metabolic process; post-translational protein modification; preassembly of GPI anchor in ER membrane | 3q29 |
| PIGY | positive regulation of metabolic process; GPI anchor biosynthetic process | 4q22.1 |
| PIGZ | GPI anchor biosynthetic process | 3q29 |
| PIH1D1 | box C/D snoRNP assembly | 19q13.33 |
| PIH1D2 | - | 11q23.1 |
| PIH1D3 | - | Xq22.3 |
| PIH2 | - | 8q13.3 |
| PIK3AP1 | - | 10q24.1 |
| PIK3C2A | cell communication; epidermal growth factor receptor signaling pathway; insulin receptor signaling pathway; vascular smooth muscle contraction; phosphatidylinositol-3-phosphate biosynthetic process; phosphatidylinositol phosphorylation; platelet-derived growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; clathrin coat assembly; endocytosis; phosphatidylinositol biosynthetic process; exocytosis | 11p15.5-p14 |
| PIK3C2B | cell communication; phosphatidylinositol-mediated signaling; protein kinase B signaling cascade | 1q32 |
| PIK3C2G | chemotaxis; cell communication; phosphatidylinositol-3-phosphate biosynthetic process; phosphatidylinositol phosphorylation; phosphatidylinositol-mediated signaling | 12p12 |
| PIK3C3 | response to leucine; innate immune response; early endosome to late endosome transport; phosphatidylinositol-3-phosphate biosynthetic process; insulin receptor signaling pathway; cell cycle; endosome organization; cytokinesis; autophagic vacuole assembly; phosphatidylinositol-mediated signaling; regulation of protein secretion | 18q12.3 |
| PIK3CA | regulation of genetic imprinting; cardiac muscle contraction; leukocyte migration; T cell receptor signaling pathway; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; phosphatidylinositol phosphorylation; vasculature development; fibroblast growth factor receptor signaling pathway; glucose metabolic process; angiogenesis; protein phosphorylation; anti-apoptosis; signal transduction; epidermal growth factor receptor signaling pathway; blood coagulation; insulin receptor signaling pathway; hypomethylation of CpG island; platelet activation; T cell costimulation; positive regulation of peptidyl-serine phosphorylation; phosphatidylinositol-3-phosphate biosynthetic process; insulin receptor signaling pathway via phosphatidylinositol 3-kinase cascade; regulation of multicellular organism growth; protein kinase B signaling cascade; endothelial cell migration | 3q26.3 |
| PIK3CB | regulation of clathrin-mediated endocytosis; activation of MAPK activity; cellular calcium ion homeostasis; regulation of cell-matrix adhesion; T cell receptor signaling pathway; leukocyte migration; platelet aggregation; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; phosphatidylinositol phosphorylation; embryonic cleavage; phosphatidylinositol-3-phosphate biosynthetic process; platelet activation; cell migration; positive regulation of autophagy; phosphatidylinositol 3-kinase cascade; endocytosis; chemotaxis; cell adhesion; homophilic cell adhesion; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; G-protein coupled receptor signaling pathway; blood coagulation; insulin receptor signaling pathway | 3q22.3 |
| PIK3CD | natural killer cell chemotaxis; B cell chemotaxis; phosphatidylinositol-3-phosphate biosynthetic process; T cell activation; B cell activation; mast cell degranulation; innate immune response; phosphatidylinositol phosphorylation; phosphatidylinositol-mediated signaling; T cell receptor signaling pathway; B cell receptor signaling pathway; mast cell differentiation; neutrophil extravasation; T cell differentiation; neutrophil chemotaxis; cytokine production; B cell homeostasis; natural killer cell differentiation; adaptive immune response; mast cell chemotaxis; respiratory burst involved in defense response; protein phosphorylation; inflammatory response; signal transduction; cell surface receptor signaling pathway; T cell chemotaxis; phosphatidylinositol 3-kinase cascade; natural killer cell activation; cell differentiation; chemotaxis | 1p36.2 |
| PIK3CD-AS1 | - | 1p36.22 |
| PIK3CG | regulation of cell adhesion mediated by integrin; natural killer cell chemotaxis; phosphatidylinositol-3-phosphate biosynthetic process; T cell proliferation; T cell activation; negative regulation of apoptotic process; G-protein coupled receptor signaling pathway; mast cell degranulation; innate immune response; phosphatidylinositol phosphorylation; negative regulation of cardiac muscle contraction; platelet aggregation; neutrophil extravasation; secretory granule localization; neutrophil chemotaxis; platelet activation; phosphatidylinositol 3-kinase cascade; T cell chemotaxis; blood coagulation; inflammatory response; chemotaxis; endocytosis; protein phosphorylation; respiratory burst involved in defense response; positive regulation of acute inflammatory response; dendritic cell chemotaxis; adaptive immune response; cytokine production | 7q22.3 |
| PIK3IP1 | negative regulation of kinase activity | 22q12.2 |
| PIK3R1 | insulin receptor signaling pathway; phosphatidylinositol 3-kinase cascade; fibroblast growth factor receptor signaling pathway; blood coagulation; epidermal growth factor receptor signaling pathway; signal transduction; positive regulation of establishment of protein localization in plasma membrane; growth hormone receptor signaling pathway; leukocyte migration; T cell receptor signaling pathway; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; insulin-like growth factor receptor signaling pathway; phosphatidylinositol phosphorylation; positive regulation of glucose import; interspecies interaction between organisms; regulation of phosphatidylinositol 3-kinase activity; T cell costimulation; platelet activation | 5q13.1 |
| PIK3R2 | negative regulation of anti-apoptosis; regulation of small GTPase mediated signal transduction; leukocyte migration; T cell receptor signaling pathway; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; phosphatidylinositol-3-phosphate biosynthetic process; T cell costimulation; platelet activation; insulin receptor signaling pathway; blood coagulation; small GTPase mediated signal transduction; signal transduction | 19q13.2-q13.4 |
| PIK3R3 | blood coagulation; regulation of catalytic activity; regulation of phosphorylation; phosphatidylinositol-3-phosphate biosynthetic process; T cell costimulation; platelet activation; insulin receptor signaling pathway | 1p34.1 |
| PIK3R4 | innate immune response; insulin receptor signaling pathway; protein phosphorylation | 3q22.1 |
| PIK3R5 | blood coagulation; platelet activation; regulation of phosphatidylinositol 3-kinase activity | 17p13.1 |
| PIK3R6 | blood coagulation; platelet activation | 17p13.1 |
| PIKFYVE | receptor-mediated endocytosis; intracellular signal transduction; protein localization to nucleus; retrograde transport, endosome to Golgi; cellular protein metabolic process | 2q34 |
| PILRA | signal transduction; interspecies interaction between organisms | 7q22.1 |
| PILRB | transmembrane receptor protein tyrosine kinase signaling pathway; activation of transmembrane receptor protein tyrosine kinase activity | 7q22.1 |
| PIM1 | positive regulation of cyclin-dependent protein kinase activity involved in G1/S; cell proliferation; multicellular organismal development; cell cycle; protein phosphorylation; protein autophosphorylation; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of apoptotic process | 6p21.2 |
| PIM2 | cell proliferation; response to virus; positive regulation of autophagy; apoptotic mitochondrial changes; negative regulation of cell proliferation; male meiosis; cell cycle; anti-apoptosis; G1/S transition of mitotic cell cycle; protein phosphorylation; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of transcription, DNA-dependent; protein stabilization | Xp11.23 |
| PIM3 | negative regulation of insulin secretion involved in cellular response to glucose stimulus; negative regulation of apoptotic process; regulation of mitotic cell cycle; cell cycle; protein phosphorylation | 22q13 |
| PIN1 | positive regulation of Rho GTPase activity; protein peptidyl-prolyl isomerization; positive regulation of protein phosphorylation; protein folding; cell cycle; regulation of mitosis; cytokine-mediated signaling pathway; negative regulation of transforming growth factor beta receptor signaling pathway; innate immune response; regulation of cytokinesis; negative regulation of type I interferon production; regulation of cell proliferation; negative regulation of cell motility; negative regulation of ERK1 and ERK2 cascade; regulation of pathway-restricted SMAD protein phosphorylation; positive regulation of ubiquitin-protein ligase activity | 19p13 |
| PIN1P1 | - | 1p31 |
| PIN4 | protein folding; rRNA processing | Xq13 |
| PIN4P1 | - | 15q15.3 |
| PINK1 | intracellular protein kinase cascade; response to stress; positive regulation of release of cytochrome c from mitochondria; peptidyl-serine phosphorylation; regulation of protein ubiquitination; cell death; positive regulation of synaptic transmission, dopaminergic; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of dopamine secretion; regulation of protein complex assembly; protein phosphorylation; mitochondrion degradation | 1p36 |
| PINK1-AS | - | 1p36.12 |
| PINLYP | - | 19q13.31 |
| PINX1 | telomere maintenance via telomerase; negative regulation of cell proliferation; regulation of telomerase activity; mitotic metaphase plate congression; negative regulation of telomerase activity | 8p23 |
| PIP | - | 7q34 |
| PIP4K2A | phosphorylation | 10p12.2 |
| PIP4K2B | cell surface receptor signaling pathway | 17q12 |
| PIP4K2C | - | 12q13.3 |
| PIP5K1A | keratinocyte differentiation; phosphorylation; cell migration; phagocytosis; fibroblast migration; phospholipid biosynthetic process; actin cytoskeleton reorganization; glycerophospholipid metabolic process; signal transduction; ruffle assembly; protein targeting to plasma membrane; cell chemotaxis; focal adhesion assembly; activation of Rac GTPase activity | 1q21.3 |
| PIP5K1B | phosphorylation | 9q13 |
| PIP5K1C | synaptic vesicle endocytosis; clathrin-mediated endocytosis; adherens junction assembly; phagocytosis; axon guidance; synaptic vesicle exocytosis; cell-cell adhesion; neutrophil chemotaxis; actin cytoskeleton organization | 19p13.3 |
| PIP5K1P1 | - | 6p24.3 |
| PIP5K1P2 | - | 7q36.3 |
| PIP5KL1 | - | 9q34.11 |
| PIPOX | oxidation-reduction process; L-lysine catabolic process to acetyl-CoA via L-pipecolate; tetrahydrofolate metabolic process | 17q11.2 |
| PIPSL | - | 10q23.33 |
| PIR | transcription from RNA polymerase II promoter | Xp22.2 |
| PIRT | - | 17p12 |
| PISD | phospholipid biosynthetic process | 22q12.2 |
| PITHD1 | - | 1p36.11 |
| PITPNA | lipid metabolic process; transport; axon guidance; visual perception; phospholipid transport | 17p13.3 |
| PITPNA-AS1 | - | 17p13.3 |
| PITPNB | in utero embryonic development; lipid metabolic process; transport | 22q12.1 |
| PITPNC1 | transport; lipid transport; signal transduction | 17q24.2 |
| PITPNM1 | phototransduction; brain development; lipid metabolic process; protein transport | 11q13 |
| PITPNM2 | transport; metabolic process | 12q24.31 |
| PITPNM3 | - | 17p13 |
| PITRM1 | proteolysis; positive regulation of catalytic activity | 10p15.2 |
| PITRM1-AS1 | - | - |
| PITX1 | branchiomeric skeletal muscle development; cartilage development; myoblast cell fate commitment; positive regulation of transcription from RNA polymerase II promoter; embryonic hindlimb morphogenesis; pituitary gland development; anatomical structure morphogenesis; multicellular organismal development; skeletal system development | 5q31.1 |
| PITX2 | positive regulation of transcription from RNA polymerase II promoter; cell proliferation involved in outflow tract morphogenesis; iris morphogenesis; prolactin secreting cell differentiation; somatotropin secreting cell differentiation; camera-type eye development; odontogenesis; hair cell differentiation; determination of left/right symmetry; multicellular organismal development; regulation of transcription, DNA-dependent; cardiac neural crest cell migration involved in outflow tract morphogenesis; negative regulation of transcription from RNA polymerase II promoter; deltoid tuberosity development | 4q25 |
| PITX3 | positive regulation of transcription, DNA-dependent; dopaminergic neuron differentiation; lens fiber cell differentiation; neuron development; midbrain development; organ morphogenesis; multicellular organismal development; regulation of transcription, DNA-dependent; lens morphogenesis in camera-type eye; lens development in camera-type eye; locomotory behavior | 10q24.32 |
| PIWIL1 | spermatogenesis; multicellular organismal development; meiosis; regulation of translation; piRNA metabolic process; gene silencing by RNA; cell differentiation; spermatid development | 12q24.33 |
| PIWIL2 | meiotic prophase I; RNA 5'-end processing; germ-line stem cell maintenance; cell differentiation; gene silencing by RNA; piRNA metabolic process; meiosis; spermatogenesis; multicellular organismal development; DNA methylation involved in gamete generation; oogenesis; positive regulation of translation | 8p21.3 |
| PIWIL3 | cell differentiation; regulation of translation; gene silencing by RNA; spermatogenesis; multicellular organismal development; meiosis | 22q11.23 |
| PIWIL4 | regulation of translation; DNA methylation involved in gamete generation; meiosis; piRNA metabolic process; gene silencing by RNA; cell differentiation; spermatogenesis; multicellular organismal development | 11q21 |
| PJA1 | protein catabolic process | Xq13.1 |
| PJA2 | long-term memory; regulation of protein kinase A signaling cascade; protein ubiquitination | 5q21.3 |
| PKD1 | neuropeptide signaling pathway; JAK-STAT cascade; heart development; anatomical structure morphogenesis; peptidyl-serine phosphorylation; spinal cord development; neural tube development; positive regulation of cyclin-dependent protein kinase activity involved in G1/S; positive regulation of protein binding; ion transmembrane transport; cytoplasmic sequestering of transcription factor; skin development; calcium-independent cell-matrix adhesion; cell-matrix adhesion; homophilic cell adhesion; cell cycle arrest; calcium ion transport; cation transport; protein export from nucleus; embryonic placenta development; kidney development; in utero embryonic development; cartilage condensation; positive regulation of transcription from RNA polymerase II promoter; branching morphogenesis of a tube; digestive tract development; metanephric distal tubule morphogenesis; metanephric proximal tubule development; metanephric ascending thin limb development; metanephric collecting duct development; mesonephric duct development | 16p13.3 |
| PKD1L1 | cell-cell adhesion; left/right axis specification; detection of nodal flow | 7p12.3 |
| PKD1L2 | ion transport; neuropeptide signaling pathway | 16q23.2 |
| PKD1L3 | cellular response to acidity; neuropeptide signaling pathway; cation transport; detection of chemical stimulus involved in sensory perception of sour taste | 16q22.2 |
| PKD1P1 | - | 16p13.11 |
| PKD1P4 | - | 16p13.12 |
| PKD1P6 | - | 16p13.13 |
| PKD2 | cellular response to osmotic stress; detection of mechanical stimulus; cellular response to hydrostatic pressure; positive regulation of cell cycle arrest; calcium ion transmembrane transport; determination of heart left/right asymmetry; renal tubule morphogenesis; placenta blood vessel development; negative regulation of ryanodine-sensitive calcium-release channel activity; transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; centrosome duplication; release of sequestered calcium ion into cytosol; cellular response to fluid shear stress; potassium ion transmembrane transport; metanephric mesenchyme development; mesonephric tubule development; mesonephric duct development; metanephric smooth muscle tissue development; metanephric cortex development; metanephric ascending thin limb development; metanephric cortical collecting duct development; metanephric distal tubule development; metanephric S-shaped body morphogenesis; regulation of calcium ion import; neg | 4q22.1 |
| PKD2L1 | potassium ion transmembrane transport; cellular response to acidity; regulation of calcium ion transport via voltage-gated calcium channel activity; sodium ion transmembrane transport; cation transport; detection of chemical stimulus involved in sensory perception of sour taste | 10q24 |
| PKD2L2 | ion transport | 5q31 |
| PKDCC | cell differentiation; positive regulation of bone mineralization; protein transport; multicellular organismal development; positive regulation of chondrocyte differentiation; palate development; protein phosphorylation; ossification; embryonic digestive tract development; lung alveolus development; negative regulation of Golgi to plasma membrane protein transport | 2p21 |
| PKDREJ | ion transport; neuropeptide signaling pathway; acrosome reaction | 22q13.31 |
| PKHD1 | negative regulation of cellular component movement; homeostatic process; cilium assembly; cell-cell adhesion; regulation of centrosome duplication; kidney development | 6p12.2 |
| PKHD1L1 | immune response | 8q23 |
| PKI55 | - | 2q35 |
| PKIA | negative regulation of protein serine/threonine kinase activity; negative regulation of catalytic activity; negative regulation of phosphorylation; negative regulation of protein import into nucleus; regulation of G2/M transition of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter | 8q21.12 |
| PKIB | negative regulation of protein kinase activity | 6q22.31 |
| PKIG | negative regulation of transcription from RNA polymerase II promoter; negative regulation of protein kinase activity; signal transduction; negative regulation of protein import into nucleus; negative regulation of phosphorylation | 20q12-q13.1 |
| PKLR | cellular response to insulin stimulus; response to other organism; response to cAMP; small molecule metabolic process; pyruvate biosynthetic process; response to ATP; endocrine pancreas development; positive regulation of cellular metabolic process; response to hypoxia; carbohydrate metabolic process; glucose metabolic process; glycolysis; energy reserve metabolic process; ATP biosynthetic process; response to nutrient; response to heat; response to glucose stimulus; response to lithium ion; response to organic cyclic compound | 1q21 |
| PKM | - | 15q22 |
| PKMP1 | - | 1p13.2 |
| PKMP2 | - | Xq12 |
| PKMP3 | - | - |
| PKMP5 | - | 6p25.1 |
| PKMYT1 | G2/M transition of mitotic cell cycle; G1/S transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; negative regulation of phosphatase activity; mitotic cell cycle; regulation of mitosis; protein phosphorylation; regulation of cell cycle; phosphorylation; mitosis | 16p13.3 |
| PKN1 | regulation of transcription from RNA polymerase II promoter; regulation of cell motility; histone H3-T11 phosphorylation; chromatin modification; epithelial cell migration; activation of JUN kinase activity; signal transduction; protein phosphorylation | 19p13.12 |
| PKN2 | regulation of cell motility; positive regulation of cell cycle cytokinesis; cell division; positive regulation of mitotic cell cycle; apical junction assembly; epithelial cell migration; regulation of transcription, DNA-dependent; protein phosphorylation; apoptotic process; cell cycle; cell adhesion; signal transduction | 1p22.2 |
| PKN3 | signal transduction; protein phosphorylation; epithelial cell migration | 9q34.11 |
| PKNOX1 | positive regulation of transcription from RNA polymerase II promoter; camera-type eye development; erythrocyte differentiation; T cell differentiation; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; angiogenesis; hemopoiesis | 21q22.3 |
| PKNOX2 | regulation of transcription from RNA polymerase II promoter | 11q24.2 |
| PKP1 | multicellular organismal development; signal transduction; cell adhesion; cellular component disassembly involved in apoptosis; apoptotic process | 1q32 |
| PKP2 | heart development; cell-cell adhesion | 12p11 |
| PKP3 | cell adhesion | 11p15 |
| PKP4 | cell adhesion; positive regulation of Rho GTPase activity; positive regulation of cell cycle cytokinesis | 2q24.1 |
| PKP4P1 | - | 2q34 |
| PLA1A | phosphatidylserine metabolic process; lipid catabolic process; lipid metabolic process | 3q13.13-q13.2 |
| PLA2G10 | axon guidance; negative regulation of sequence-specific DNA binding transcription factor activity; phospholipid metabolic process; cholesterol homeostasis; positive regulation of prostaglandin secretion; positive regulation of cellular protein metabolic process; arachidonic acid metabolic process; positive regulation of macrophage derived foam cell differentiation; positive regulation of lipid storage; lipid catabolic process; lysophospholipid transport; regulation of macrophage activation; positive regulation of arachidonic acid secretion; negative regulation of cholesterol efflux | 16p13.1-p12 |
| PLA2G12A | phospholipid metabolic process; metabolic process; lipid catabolic process | 4q25 |
| PLA2G15 | fatty acid catabolic process; phosphatidylcholine metabolic process; ceramide metabolic process; lipid metabolic process | 16q22.1 |
| PLA2G16 | lipid catabolic process; negative regulation of cell cycle; phospholipid metabolic process | 11q12.3 |
| PLA2G2A | positive regulation of inflammatory response; defense response to Gram-positive bacterium; phosphatidic acid metabolic process; lipid catabolic process; low-density lipoprotein particle remodeling; positive regulation of macrophage derived foam cell differentiation; phospholipid metabolic process | 1p35 |
| PLA2G2C | phospholipid metabolic process; lipid catabolic process | 1p36.12 |
| PLA2G2D | inflammatory response; lipid catabolic process; phospholipid metabolic process | 1p36.12 |
| PLA2G2F | phospholipid metabolic process; lipid catabolic process | 1p35 |
| PLA2G3 | cell projection organization; phospholipid metabolic process; lipid catabolic process; cilium morphogenesis | 22q12.2 |
| PLA2G4A | positive regulation of prostaglandin biosynthetic process; positive regulation of fever generation; response to lipopolysaccharide; response to vitamin D; response to hydrogen peroxide; positive regulation of apoptotic process; surfactant homeostasis; icosanoid biosynthetic process; decidualization; arachidonic acid secretion; positive regulation of inflammatory response; response to glucocorticoid stimulus; response to calcium ion; response to methylmercury; cellular response to antibiotic; lipid catabolic process; positive regulation of bone mineralization; ovulation from ovarian follicle; luteolysis; platelet activating factor biosynthetic process; icosanoid metabolic process; aging; blood coagulation; metabolic process; positive regulation of cell proliferation; response to heat; response to hormone stimulus; response to organic nitrogen; positive regulation of vesicle fusion; arachidonic acid metabolic process; platelet activation; phospholipid catabolic process | 1q25 |
| PLA2G4B | lipid catabolic process; arachidonic acid metabolic process; calcium-mediated signaling; metabolic process; endoplasmic reticulum unfolded protein response; parturition; glycerophospholipid catabolic process; activation of signaling protein activity involved in unfolded protein response; inflammatory response | 15q11.2-q21.3 |
| PLA2G4C | intracellular signal transduction; glycerophospholipid catabolic process; arachidonic acid metabolic process; lipid catabolic process; metabolic process; parturition; phospholipid metabolic process; inflammatory response | 19q13.3 |
| PLA2G4D | metabolic process; phospholipid catabolic process; lipid catabolic process | 15q15.1 |
| PLA2G4E | lipid catabolic process; metabolic process; phospholipid catabolic process | 15q15.1 |
| PLA2G4F | arachidonic acid secretion; lipid catabolic process; fatty acid transport; phospholipid catabolic process; metabolic process; prostaglandin biosynthetic process; cellular response to antibiotic; cellular response to organic cyclic compound | 15q15.1 |
| PLA2G5 | lipid catabolic process; response to cAMP; arachidonic acid secretion; response to cytokine stimulus; leukotriene biosynthetic process; platelet activating factor biosynthetic process; phospholipid metabolic process | 1p36-p34 |
| PLA2G6 | lipid catabolic process; cardiolipin biosynthetic process; metabolic process; cell death | 22q13.1 |
| PLA2G7 | positive regulation of monocyte chemotaxis; positive regulation of inflammatory response; plasma lipoprotein particle oxidation; lipid oxidation; low-density lipoprotein particle remodeling; lipid catabolic process | 6p21.2-p12 |
| PLA2R1 | regulation of phospholipase A2 activity; endocytosis; receptor-mediated endocytosis; cytokine production; positive regulation of DNA damage response, signal transduction by p53 class mediator; reactive oxygen species metabolic process; regulation of arachidonic acid secretion; oxidative stress-induced premature senescence; replicative senescence; positive regulation of arachidonic acid secretion | 2q23-q24 |
| PLAA | phospholipid metabolic process; positive regulation of catalytic activity; inflammatory response; signal transduction | 9p21 |
| PLAC1 | multicellular organismal development; placenta development | Xq26 |
| PLAC4 | - | 21q22.2 |
| PLAC8 | - | 4q21.22 |
| PLAC8L1 | - | 5q32 |
| PLAC9 | - | 10q22.3 |
| PLAG1 | prostate gland growth; positive regulation of gene expression; positive regulation of glial cell proliferation; organ growth; gland morphogenesis; negative regulation of gene expression; regulation of transcription, DNA-dependent; multicellular organism growth | 8q12 |
| PLAGL1 | regulation of transcription, DNA-dependent; induction of apoptosis; cell cycle arrest; regulation of gene expression; positive regulation of transcription from RNA polymerase II promoter | 6q24-q25 |
| PLAGL2 | regulation of transcription, DNA-dependent; induction of apoptosis; positive regulation of transcription from RNA polymerase II promoter | 20q11.21 |
| PLAT | proteolysis; negative regulation of proteolysis; fibrinolysis; plasminogen activation; blood coagulation; protein modification process | 8p12 |
| PLAU | regulation of cell proliferation; regulation of smooth muscle cell-matrix adhesion; regulation of wound healing; response to hyperoxia; skeletal muscle tissue regeneration; fibrinolysis; regulation of cell adhesion mediated by integrin; regulation of smooth muscle cell migration; blood coagulation; embryo implantation; signal transduction; chemotaxis; proteolysis; response to hypoxia; angiogenesis; regulation of receptor activity | 10q22.2 |
| PLAUR | attachment of GPI anchor to protein; epithelial cell differentiation involved in prostate gland development; mesenchymal cell differentiation; cellular protein metabolic process; post-translational protein modification; skeletal muscle tissue regeneration; negative regulation of apoptotic process; fibrinolysis; regulation of proteolysis; negative regulation of gene expression; positive regulation of gene expression; blood coagulation; signal transduction; chemotaxis; cellular component movement; C-terminal protein lipidation | 19q13 |
| PLB1 | retinoid metabolic process; steroid metabolic process; lipid catabolic process; small molecule metabolic process | 2p23.2 |
| PLBD1 | lipid catabolic process | 12p13.1 |
| PLBD2 | lipid catabolic process | 12q24.13 |
| PLCB1 | fat cell differentiation; synaptic transmission; cerebral cortex development; regulation of fertilization; lipid catabolic process; response to organic nitrogen; interleukin-1-mediated signaling pathway; regulation of G-protein coupled receptor protein signaling pathway; memory; learning; activation of meiosis involved in egg activation; G1 phase; glutamate receptor signaling pathway; positive regulation of developmental growth; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of JNK cascade; phosphatidylinositol metabolic process; G-protein coupled acetylcholine receptor signaling pathway; signal transduction; G2/M transition of mitotic cell cycle; insulin-like growth factor receptor signaling pathway; response to monosaccharide stimulus; positive regulation of myoblast differentiation; positive regulation of GTPase activity; response to peptide hormone stimulus; positive regulation of embryonic development; CD24 biosynthetic proces | 20p12 |
| PLCB1-IT1 | - | - |
| PLCB2 | detection of chemical stimulus involved in sensory perception of bitter taste; phospholipid metabolic process; activation of phospholipase C activity; synaptic transmission; lipid catabolic process; intracellular signal transduction | 15q15 |
| PLCB3 | post-Golgi vesicle-mediated transport; synaptic transmission; lipid catabolic process; intracellular signal transduction; G-protein coupled receptor signaling pathway | 11q13 |
| PLCB4 | lipid metabolic process; lipid catabolic process; intracellular signal transduction | 20p12 |
| PLCD1 | phospholipid metabolic process; lipid catabolic process; intracellular signal transduction | 3p22-p21.3 |
| PLCD3 | labyrinthine layer blood vessel development; regulation of cell proliferation; intracellular signal transduction; lipid catabolic process; angiogenesis | 17q21.31 |
| PLCD4 | acrosome reaction; lipid catabolic process; intracellular signal transduction | 2q35 |
| PLCE1 | Ras protein signal transduction; diacylglycerol biosynthetic process; regulation of smooth muscle contraction; cytoskeleton organization; epidermal growth factor receptor signaling pathway; phospholipid metabolic process; regulation of cell growth; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; elevation of cytosolic calcium ion concentration; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; calcium-mediated signaling; glomerulus development; heart development; activation of MAPK activity; regulation of protein kinase activity; regulation of Ras protein signal transduction; inositol phosphate-mediated signaling; lipid catabolic process; cell proliferation; regulation of G-protein coupled receptor protein signaling pathway | 10q23 |
| PLCE1-AS1 | - | 10q23.33 |
| PLCG1 | nerve growth factor receptor signaling pathway; cytokine-mediated signaling pathway; positive regulation of angiogenesis; interspecies interaction between organisms; positive regulation of blood vessel endothelial cell migration; intracellular signal transduction; signal transduction; epidermal growth factor receptor signaling pathway; activation of phospholipase C activity; axon guidance; blood coagulation; fibroblast growth factor receptor signaling pathway; phospholipid catabolic process; positive regulation of epithelial cell migration; lipid catabolic process; leukocyte migration; cellular response to epidermal growth factor stimulus; T cell receptor signaling pathway | 20q12-q13.1 |
| PLCG1-AS1 | - | - |
| PLCG2 | elevation of cytosolic calcium ion concentration; release of sequestered calcium ion into cytosol; B cell receptor signaling pathway; T cell receptor signaling pathway; negative regulation of programmed cell death; intracellular signal transduction; response to ATP; inositol trisphosphate biosynthetic process; response to lipopolysaccharide; activation of store-operated calcium channel activity; response to magnesium ion; B cell differentiation; platelet activation; calcium-mediated signaling; Wnt receptor signaling pathway; lipid catabolic process; regulation of gene expression; phospholipid catabolic process; blood coagulation; phosphatidylinositol biosynthetic process; follicular B cell differentiation | 16q24.1 |
| PLCH1 | lipid catabolic process; intracellular signal transduction; phosphatidylinositol-mediated signaling | 3q25.31 |
| PLCH1-AS1 | - | - |
| PLCH2 | phosphatidylinositol metabolic process; intracellular signal transduction; lipid catabolic process | 1p36.32 |
| PLCL1 | behavior; lipid metabolic process; intracellular signal transduction | 2q33 |
| PLCL2 | intracellular signal transduction; lipid metabolic process | 3p24.3 |
| PLCL2-AS1 | - | - |
| PLCXD1 | lipid metabolic process; intracellular signal transduction | Xp22.33; Yp11.32 |
| PLCXD2 | lipid catabolic process; intracellular signal transduction | 3q13.2 |
| PLCXD3 | intracellular signal transduction; lipid catabolic process | 5p13.1 |
| PLCZ1 | lipid metabolic process; calcium ion transport; multicellular organismal development; egg activation; metabolic process; lipid catabolic process; intracellular signal transduction | 12p12.3 |
| PLD1 | phospholipid catabolic process; defense response to Gram-positive bacterium; response to peptide hormone stimulus; positive regulation of cell migration; lipid catabolic process; phospholipid biosynthetic process; Ras protein signal transduction; small GTPase mediated signal transduction; cell communication; chemotaxis; phosphatidic acid biosynthetic process | 3q26 |
| PLD2 | positive regulation of mast cell degranulation; small GTPase mediated signal transduction; phospholipid catabolic process; positive regulation of phosphatidylinositol 3-kinase cascade; response to organic cyclic compound; lipid catabolic process; positive regulation of cell migration; neuron projection development; response to hydrogen peroxide; response to peptide hormone stimulus; positive regulation of cell adhesion; positive regulation of receptor-mediated endocytosis; cell communication; cytoskeleton organization; G-protein coupled receptor internalization; response to hypoxia | 17p13.1 |
| PLD3 | lipid catabolic process | 19q13.2 |
| PLD4 | lipid catabolic process | 14q32.33 |
| PLD5 | - | 1q43 |
| PLD6 | meiosis; lipid catabolic process; cell differentiation; P granule organization; piRNA metabolic process; mitochondrial fusion; spermatid development; DNA methylation involved in gamete generation; spermatogenesis | 17p11.2 |
| PLEC | cell junction assembly; apoptotic process; cellular component disassembly involved in apoptosis; hemidesmosome assembly | 8q24 |
| PLEK | ruffle organization; protein secretion by platelet; protein kinase C signaling cascade; thrombin receptor signaling pathway; actin cytoskeleton reorganization; cortical actin cytoskeleton organization; inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway; positive regulation of actin filament depolymerization; platelet activation; cell projection organization; positive regulation of inositol-polyphosphate 5-phosphatase activity; negative regulation of inositol phosphate biosynthetic process; positive regulation of platelet activation; blood coagulation; integrin-mediated signaling pathway; platelet degranulation; platelet aggregation; regulation of cell diameter; negative regulation of calcium-mediated signaling; phosphatidylinositol metabolic process; negative regulation of G-protein coupled receptor protein signaling pathway; intracellular signal transduction; positive regulation of integrin activation; positive regulation of actin filament bundle assembly; hemopoi | 2p13.3 |
| PLEK2 | actin cytoskeleton organization; intracellular signal transduction | 14q23.3 |
| PLEKHA1 | establishment of protein localization; androgen metabolic process; multicellular organism growth; Leydig cell differentiation; ruffle organization; phosphatidylinositol 3-kinase cascade; post-embryonic development; female gonad development; luteinization; spermatogenesis; estrogen metabolic process; skeletal system morphogenesis; face morphogenesis; palate development; cellular response to hydrogen peroxide; platelet-derived growth factor receptor signaling pathway; B cell receptor signaling pathway; negative regulation of protein kinase B signaling cascade | 10q26.13 |
| PLEKHA2 | positive regulation of cell-matrix adhesion | 8p11.22 |
| PLEKHA3 | - | 2q31.2 |
| PLEKHA4 | - | 19q13.33 |
| PLEKHA5 | - | 12p12 |
| PLEKHA6 | - | 1q32.1 |
| PLEKHA7 | zonula adherens maintenance; epithelial cell-cell adhesion | 11p15.1 |
| PLEKHA8 | protein transport | 7p21-p11.2 |
| PLEKHA8P1 | - | 12q |
| PLEKHB1 | signal transduction; multicellular organismal development; phototransduction | 11q13.5-q14.1 |
| PLEKHB2 | - | 2q21.1 |
| PLEKHF1 | apoptotic process | 19q12 |
| PLEKHF2 | - | 8q22.1 |
| PLEKHG1 | regulation of Rho protein signal transduction | 6q25.1 |
| PLEKHG2 | regulation of Rho protein signal transduction; apoptotic process; nerve growth factor receptor signaling pathway; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; regulation of small GTPase mediated signal transduction | 19q13.2 |
| PLEKHG3 | regulation of Rho protein signal transduction | 14q23.3 |
| PLEKHG4 | regulation of Rho protein signal transduction | 16q22.1 |
| PLEKHG4B | regulation of Rho protein signal transduction | 5p15.33 |
| PLEKHG5 | nerve growth factor receptor signaling pathway; apoptotic process; cell death; induction of apoptosis by extracellular signals; signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; regulation of Rho protein signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 1p36.31 |
| PLEKHG6 | regulation of Rho protein signal transduction | 12p13.31 |
| PLEKHG7 | regulation of Rho protein signal transduction | 12q22 |
| PLEKHH1 | - | 14q24.1 |
| PLEKHH2 | - | 2p21 |
| PLEKHH3 | signal transduction | 17q21.2 |
| PLEKHJ1 | - | 19p13.3 |
| PLEKHM1 | intracellular signal transduction | 17q21.31 |
| PLEKHM1P1 | intracellular signal transduction | 17q24.1 |
| PLEKHM2 | Golgi organization | 1p36.21 |
| PLEKHM3 | intracellular signal transduction | 2q33.3 |
| PLEKHN1 | - | 1p36.33 |
| PLEKHO1 | - | 1q21.2 |
| PLEKHO2 | - | 15q22.1 |
| PLEKHS1 | - | 10q25.3 |
| PLG | platelet degranulation; proteolysis; blood coagulation; negative regulation of cell proliferation; negative regulation of cell-substrate adhesion; extracellular matrix disassembly; platelet activation; fibrinolysis; tissue remodeling; negative regulation of fibrinolysis; negative regulation of cell-cell adhesion mediated by cadherin; positive regulation of fibrinolysis | 6q26 |
| PLGLA | - | 2q12.2 |
| PLGLB2 | - | 2p11.2 |
| PLGRKT | positive regulation of plasminogen activation | 9p24.1 |
| PLIN1 | lipid metabolic process; lipid catabolic process; triglyceride catabolic process; small molecule metabolic process | 15q26 |
| PLIN2 | response to organic cyclic compound; small molecule metabolic process; cellular lipid metabolic process; response to drug; lipid storage; long-chain fatty acid transport | 9p22.1 |
| PLIN3 | vesicle-mediated transport | 19p13.3 |
| PLIN4 | - | 19p13.3 |
| PLIN5 | - | 19p13.3 |
| PLK1 | G2/M transition DNA damage checkpoint; protein ubiquitination; protein destabilization; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; polar body extrusion after meiotic divisions; negative regulation of apoptotic process; regulation of protein binding; negative regulation of cyclin-dependent protein kinase activity; positive regulation of proteolysis; response to antibiotic; centrosome organization; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity; regulation of cell cycle; protein localization to chromatin; regulation of mitotic anaphase; peptidyl-serine phosphorylation; G2/M transition of mitotic cell cycle; M phase of mitotic cell cycle; mitotic prophase; negative regulation of transcription from RNA polymerase II promoter; mitotic prometaphase; mitotic cell cycle; cytokinesis; microtubule bundle | 16p12.2 |
| PLK2 | memory; G1/S transition of mitotic cell cycle; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of centriole replication; regulation of synaptic plasticity; long-term synaptic potentiation; long term synaptic depression; mitotic cell cycle checkpoint; mitotic spindle organization; protein phosphorylation; negative regulation of apoptotic process; signal transduction; Rap protein signal transduction; Ras protein signal transduction | 5q12.1-q13.2 |
| PLK3 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; response to reactive oxygen species; cytokinesis; protein phosphorylation; apoptotic process; response to osmotic stress; response to radiation; endomitotic cell cycle; cell cycle; mitotic cell cycle G2/M transition checkpoint; G1/S transition checkpoint; protein kinase B signaling cascade; negative regulation of apoptotic process; response to DNA damage stimulus; Golgi disassembly | 1p34.1 |
| PLK4 | trophoblast giant cell differentiation; positive regulation of centriole replication; centriole replication; protein phosphorylation; mitotic cell cycle; G2/M transition of mitotic cell cycle | 4q28 |
| PLK5 | cellular response to growth factor stimulus; defense response to tumor cell; transformed cell apoptosis; cell cycle; mitosis; positive regulation of neuron projection development; cell differentiation; G2/M transition DNA damage checkpoint; cell division; regulation of G1/S transition of mitotic cell cycle | 19p13.3 |
| PLLP | myelination; ion transport; response to wounding | 16q13 |
| PLN | regulation of calcium ion transport; cardiac muscle tissue development; negative regulation of heart contraction; cellular calcium ion homeostasis; blood circulation; regulation of the force of heart contraction | 6q22.1 |
| PLOD1 | response to hypoxia; protein modification process; epidermis development; hydroxylysine biosynthetic process; oxidation-reduction process | 1p36.22 |
| PLOD2 | response to hypoxia; protein modification process | 3q24 |
| PLOD3 | lung morphogenesis; vasodilation; cellular response to hormone stimulus; collagen fibril organization; neural tube development; in utero embryonic development; endothelial cell morphogenesis; protein modification process; protein localization; basement membrane assembly; epidermis morphogenesis | 7q22 |
| PLP1 | cell death; cell maturation; long-chain fatty acid biosynthetic process; central nervous system myelination; positive regulation of gene expression; glial cell differentiation; axon ensheathment; synaptic transmission; integrin-mediated signaling pathway | Xq22 |
| PLP2 | ion transport; chemotaxis; cytokine-mediated signaling pathway; ion transmembrane transport | Xp11.23 |
| PLPP1 | negative regulation of cell proliferation; sphingolipid metabolic process; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; germ cell migration; regulation of lipid metabolic process; sphingolipid biosynthetic process; intracellular steroid hormone receptor signaling pathway; androgen receptor signaling pathway; phospholipid dephosphorylation; small molecule metabolic process; lipid metabolic process | 5q11 |
| PLPP2 | sphingolipid biosynthetic process; sphingolipid metabolic process; small molecule metabolic process | 19p13 |
| PLPP3 | canonical Wnt receptor signaling pathway involved in positive regulation of wound healing; sphingolipid metabolic process; protein stabilization; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of sequence-specific DNA binding transcription factor activity; phospholipid metabolic process; lipid metabolic process; germ cell migration; canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion; negative regulation of protein phosphorylation; gastrulation with mouth forming second; canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration; sphingolipid biosynthetic process; homotypic cell-cell adhesion; small molecule metabolic process; blood vessel development; regulation of Wnt receptor signaling pathway; dephosphorylation | 1p32.2 |
| PLPP4 | phospholipid dephosphorylation | 10q26.12 |
| PLPP5 | phospholipid dephosphorylation | 8p11.23 |
| PLPP6 | - | 9p24.1 |
| PLPP7 | - | 9q34.13 |
| PLPPR1 | - | 9q31.1 |
| PLPPR2 | - | 19p13.2 |
| PLPPR3 | - | 19p13.3 |
| PLPPR4 | - | 1p21.2 |
| PLPPR5 | - | 1p21.3 |
| PLRG1 | signal transduction; RNA splicing; nuclear mRNA splicing, via spliceosome | 4q31.2-q32.1 |
| PLS1 | - | 3q23 |
| PLS1-AS1 | - | - |
| PLS3 | - | Xq23 |
| PLS3-AS1 | - | Xq23 |
| PLSCR1 | positive regulation of innate immune response; positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity; regulation of Fc receptor mediated stimulatory signaling pathway; defense response to virus; positive regulation of transcription from RNA polymerase II promoter; negative regulation of viral genome replication; response to interferon-beta; regulation of mast cell activation; platelet activation; phospholipid scrambling; positive regulation of gene expression; acute-phase response; apoptotic process; phosphatidylserine biosynthetic process | 3q23 |
| PLSCR2 | phospholipid scrambling | 3q24 |
| PLSCR3 | phospholipid scrambling | 17p13.1 |
| PLSCR4 | blood coagulation; phospholipid scrambling; cellular response to lipopolysaccharide | 3q24 |
| PLSCR5-AS1 | - | - |
| PLTP | lipid metabolic process; transport; lipid transport; vitamin E biosynthetic process; sperm motility | 20q13.12 |
| PLVAP | - | 19p13.2 |
| PLXDC1 | spinal cord development; angiogenesis | 17q21.1 |
| PLXDC2 | - | 10p12.31 |
| PLXNA1 | dichotomous subdivision of terminal units involved in salivary gland branching; axon guidance; multicellular organismal development; signal transduction; semaphorin-plexin signaling pathway | 3q21.3 |
| PLXNA2 | somitogenesis; semaphorin-plexin signaling pathway; limb bud formation; pharyngeal system development; centrosome localization; regulation of cell migration; cerebellar granule cell precursor tangential migration; neural tube development; axon guidance; multicellular organismal development | 1q32.2 |
| PLXNA3 | axon guidance; negative regulation of axon extension involved in axon guidance; negative chemotaxis; pyramidal neuron development; hippocampus development; positive regulation of cytoskeleton organization; semaphorin-plexin signaling pathway; signal transduction; multicellular organismal development | Xq28 |
| PLXNA4 | signal transduction; multicellular organismal development; semaphorin-plexin signaling pathway; regulation of axon extension involved in axon guidance; nervous system development; vagus nerve morphogenesis; anterior commissure morphogenesis; chemorepulsion of branchiomotor axon; trigeminal nerve morphogenesis; postganglionic parasympathetic nervous system development; glossopharyngeal nerve morphogenesis; sympathetic nervous system development; regulation of negative chemotaxis; facial nerve morphogenesis; axon guidance; neuron projection morphogenesis | 7q32.3 |
| PLXNB1 | semaphorin-plexin signaling pathway; regulation of cytoskeleton organization; regulation of small GTPase mediated signal transduction; trabecula morphogenesis; positive regulation of axonogenesis; neuron projection morphogenesis; ossification involved in bone maturation; intracellular signal transduction; negative regulation of osteoblast proliferation; positive regulation of Rho GTPase activity; cell migration; positive regulation of phosphatidylinositol 3-kinase cascade; regulation of cell shape; axon guidance; multicellular organismal development; signal transduction | 3p21.31 |
| PLXNB2 | semaphorin-plexin signaling pathway; neuroblast proliferation; multicellular organismal development; signal transduction; regulation of protein phosphorylation; regulation of small GTPase mediated signal transduction; brain development; neural tube closure; regulation of neuron migration; positive regulation of axonogenesis; regulation of cell shape; regulation of Rho GTPase activity | 22q13.33 |
| PLXNB3 | multicellular organismal development; signal transduction; axon guidance | Xq28 |
| PLXNC1 | cell adhesion; signal transduction; multicellular organismal development; axon guidance | 12q23.3 |
| PLXND1 | endothelial cell migration; regulation of cell migration; regulation of angiogenesis; dichotomous subdivision of terminal units involved in salivary gland branching; synapse assembly; axon guidance; multicellular organismal development; signal transduction; semaphorin-plexin signaling pathway; patterning of blood vessels; angiogenesis | 3q22.1 |
| PM20D1 | proteolysis; metabolic process | 1q32.1 |
| PM20D2 | metabolic process | 6q15 |
| PMAIP1 | positive regulation of release of cytochrome c from mitochondria; positive regulation of intrinsic apoptotic signaling pathway; protein insertion into mitochondrial membrane involved in induction of apoptosis; signal transduction by p53 class mediator resulting in induction of apoptosis; reactive oxygen species metabolic process; response to DNA damage stimulus; virus-infected cell apoptosis; cellular component disassembly involved in apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; apoptotic process; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; response to UV; response to X-ray; proteasomal protein catabolic process; positive regulation of glucose metabolic process; positive regulation of protein oligomerization; cellular response to hypoxia; negative regulation of fibroblast proliferation; regulation of mitochondrial membrane permeability; positive regulation of neuron apoptosis; positive regul | 18q21.32 |
| PMCH | regulation of neuronal synaptic plasticity; positive regulation of circadian sleep/wake cycle, REM sleep; negative regulation of blood pressure; drinking behavior; glucose homeostasis; negative regulation of synaptic transmission, dopaminergic; response to cold; feeding behavior; behavior; lactation; spermatogenesis; cell differentiation; multicellular organismal development; synaptic transmission; neuropeptide signaling pathway; elevation of cytosolic calcium ion concentration; regulation of heart rate; signal transduction | 12q23.2 |
| PMEL | melanosome organization; melanin biosynthetic process | 12q13-q14 |
| PMEPA1 | androgen receptor signaling pathway | 20q13.31-q13.33 |
| PMF1 | chromosome segregation; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; cell division | 1q12 |
| PMFBP1 | - | 16q22.2 |
| PML | response to cytokine stimulus; negative regulation of cell growth; negative regulation of translation in response to oxidative stress; positive regulation of defense response to virus by host; endoplasmic reticulum calcium ion homeostasis; negative regulation of telomere maintenance via telomerase; positive regulation of histone deacetylation; PML body organization; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; interspecies interaction between organisms; cell fate commitment; regulation of MHC class I biosynthetic process; negative regulation of transcription, DNA-dependent; negative regulation of mitotic cell cycle; retinoic acid receptor signaling pathway; protein stabilization; maintenance of protein location in nucleus; negative regulation of telomerase activity; interferon-gamma-mediated signaling pathway; branching involved in mammary gland duct morphogenesis; negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catab | 15q22 |
| PMM1 | protein N-linked glycosylation via asparagine; cellular protein metabolic process; post-translational protein modification; dolichol-linked oligosaccharide biosynthetic process; mannose metabolic process; GDP-mannose biosynthetic process | 22q13.2 |
| PMM2 | protein glycosylation; dolichol-linked oligosaccharide biosynthetic process; GDP-mannose biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 16p13 |
| PMP2 | - | 8q21.3-q22.1 |
| PMP22 | negative regulation of neuron projection development; myelin assembly; cell differentiation; negative regulation of cell proliferation; peripheral nervous system development; synaptic transmission | 17p12 |
| PMPCA | proteolysis | 9q34.3 |
| PMPCB | proteolysis | 7q22.1 |
| PMS1 | ATP catabolic process; mismatch repair; reciprocal meiotic recombination | 2q31.1 |
| PMS2 | response to drug; ATP catabolic process; mismatch repair; reciprocal meiotic recombination; somatic hypermutation of immunoglobulin genes; somatic recombination of immunoglobulin gene segments | 7p22.2 |
| PMS2CL | somatic hypermutation of immunoglobulin genes; somatic recombination of immunoglobulin gene segments; mismatch repair; response to drug | 7p22.1 |
| PMS2P1 | ATP catabolic process; mismatch repair; reciprocal meiotic recombination; somatic hypermutation of immunoglobulin genes | 7q22.1 |
| PMS2P12 | - | 7q22.1 |
| PMS2P2 | ATP catabolic process; somatic hypermutation of immunoglobulin genes; reciprocal meiotic recombination; mismatch repair | 7q11.23 |
| PMS2P3 | regulation of transcription, DNA-dependent | 7q11.23 |
| PMS2P4 | - | 7q11.22 |
| PMS2P5 | mismatch repair; somatic hypermutation of immunoglobulin genes; reciprocal meiotic recombination; ATP catabolic process | 7q11.23 |
| PMS2P6 | - | 7q11.23 |
| PMS2P8 | - | 7q11.23 |
| PMVK | response to cholesterol; small molecule metabolic process; isopentenyl diphosphate biosynthetic process, mevalonate pathway; isoprenoid biosynthetic process; cholesterol biosynthetic process | 1q22 |
| PNCK | - | Xq28 |
| PNISR | - | 6q16.3 |
| PNKD | - | 2q35 |
| PNKP | dephosphorylation; DNA damage response, detection of DNA damage; nucleotide phosphorylation; response to radiation; response to oxidative stress; DNA repair; DNA-dependent DNA replication; nucleotide-excision repair, DNA damage removal | 19q13.3-q13.4 |
| PNLDC1 | - | 6q25.3 |
| PNLIPRP1 | response to glucocorticoid stimulus; response to peptide hormone stimulus; pancreas development; lipid metabolic process | 10q25.3 |
| PNLIPRP2 | small molecule metabolic process; lipid digestion; galactolipid catabolic process; lipid catabolic process; phospholipid catabolic process; triglyceride metabolic process; lipid metabolic process | 10q25.3 |
| PNLIPRP3 | lipid catabolic process | 10q25.3 |
| PNMA1 | central nervous system development; spermatogenesis; apoptotic process; inflammatory response to antigenic stimulus | 14q24.3 |
| PNMA2 | apoptotic process | 8p21.2 |
| PNMA3 | apoptotic process | Xq28 |
| PNMA5 | apoptotic process | Xq28 |
| PNMA6A | - | Xq28 |
| PNMAL1 | - | 19q13.32 |
| PNMAL2 | - | 19q13.32 |
| PNMT | cellular nitrogen compound metabolic process; catecholamine biosynthetic process; small molecule metabolic process | 17q |
| PNN | nuclear mRNA splicing, via spliceosome; regulation of transcription, DNA-dependent; cell adhesion; RNA splicing | 14q21.1 |
| PNO1 | - | 2p14 |
| PNOC | signal transduction; neuropeptide signaling pathway; synaptic transmission; sensory perception | 8p21 |
| PNP | positive regulation of alpha-beta T cell differentiation; nucleobase-containing compound metabolic process; purine base metabolic process; inosine catabolic process; purine nucleotide catabolic process; nicotinamide riboside catabolic process; response to drug; purine-containing compound salvage; small molecule metabolic process; nucleobase-containing small molecule metabolic process; immune response; interleukin-2 secretion; nucleoside metabolic process; NAD biosynthesis via nicotinamide riboside salvage pathway; urate biosynthetic process; positive regulation of T cell proliferation | 14q13.1 |
| PNPLA1 | lipid catabolic process; metabolic process | 6p21.31 |
| PNPLA2 | metabolic process; negative regulation of sequestering of triglyceride; positive regulation of triglyceride catabolic process; lipid catabolic process | 11p15.5 |
| PNPLA3 | triglyceride catabolic process; triglyceride biosynthetic process; lipid catabolic process; metabolic process | 22q13.31 |
| PNPLA4 | lipid catabolic process; metabolic process | Xp22.3 |
| PNPLA5 | metabolic process; lipid catabolic process | 22q13.31 |
| PNPLA6 | metabolic process; cell death; lipid catabolic process; phosphatidylcholine metabolic process | 19p13.2 |
| PNPLA7 | lipid metabolic process; metabolic process | 9q34.3 |
| PNPLA8 | metabolic process; lipid catabolic process; fatty acid metabolic process | 7q31 |
| PNPO | small molecule metabolic process; pyridoxal phosphate biosynthetic process; vitamin B6 metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; pyridoxine biosynthetic process | 17q21.32 |
| PNPT1 | positive regulation of mitochondrial RNA catabolic process; regulation of cellular respiration; mitotic cell cycle arrest; RNA catabolic process; mRNA processing; mRNA polyadenylation; mitochondrial mRNA catabolic process; mitochondrial RNA 3'-end processing; regulation of cellular senescence; mitochondrial RNA 5'-end processing; protein homooligomerization; mRNA catabolic process; transport; protein homotrimerization; positive regulation of miRNA catabolic process; nuclear polyadenylation-dependent mRNA catabolic process; mitochondrion morphogenesis; positive regulation of mRNA catabolic process; cellular response to oxidative stress; negative regulation of growth; RNA polyadenylation; rRNA import into mitochondrion; RNA import into mitochondrion; cellular response to interferon-beta | 2p15 |
| PNPT1P1 | - | 3p26.1 |
| PNRC1 | regulation of transcription, DNA-dependent | 6q15 |
| PNRC2 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; regulation of transcription, DNA-dependent; deadenylation-independent decapping of nuclear-transcribed mRNA | 1p36.11 |
| POC1A | - | 3p21.2 |
| POC1B | cell projection organization; cilium assembly | 12q21.33 |
| POC5 | cell cycle | 5q13.3 |
| PODN | negative regulation of cell proliferation; negative regulation of cell migration | 1p32.3 |
| PODNL1 | - | 19p13.12 |
| PODXL | regulation of microvillus assembly; positive regulation of cell-cell adhesion mediated by integrin; leukocyte migration; glomerular visceral epithelial cell development; epithelial tube formation; positive regulation of cell migration; negative regulation of cell adhesion; cell migration; negative regulation of cell-cell adhesion | 7q32-q33 |
| PODXL2 | cell adhesion; leukocyte tethering or rolling | 3q21.3 |
| POF1B | - | Xq21.2 |
| POFUT1 | somitogenesis; heart development; O-glycan processing; fucose metabolic process; carbohydrate metabolic process; fucosylation; nervous system development; Notch signaling pathway; embryo development; protein O-linked glycosylation; angiogenesis; regulation of transcription, DNA-dependent; protein O-linked fucosylation | 20q11 |
| POFUT2 | fucose metabolic process; carbohydrate metabolic process | 21q22.3 |
| POGK | multicellular organismal development; regulation of transcription, DNA-dependent | 1q24.1 |
| POGLUT1 | - | 3q13.33 |
| POGZ | kinetochore assembly; regulation of transcription, DNA-dependent; cell cycle; mitotic sister chromatid cohesion; cell division | 1q21.3 |
| POLA1 | lagging strand elongation; DNA strand elongation involved in DNA replication; DNA-dependent DNA replication initiation; DNA replication, synthesis of RNA primer; DNA replication; nucleobase-containing compound metabolic process; DNA synthesis involved in DNA repair; telomere maintenance; telomere maintenance via recombination; mitotic cell cycle; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; DNA replication checkpoint; leading strand elongation; DNA repair; double-strand break repair via nonhomologous end joining; cell proliferation; telomere maintenance via semi-conservative replication; interspecies interaction between organisms | Xp22.1-p21.3 |
| POLA2 | DNA-dependent DNA replication initiation; telomere maintenance via semi-conservative replication; DNA strand elongation involved in DNA replication; telomere maintenance via recombination; protein import into nucleus, translocation; telomere maintenance; M/G1 transition of mitotic cell cycle; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; mitotic cell cycle; DNA replication | 11q13.1 |
| POLB | nucleotide-excision repair, DNA gap filling; response to ethanol; cell death; response to DNA damage stimulus; anti-apoptosis; pyrimidine dimer repair; base-excision repair, gap-filling; base-excision repair; DNA repair; DNA-dependent DNA replication | 8p11.2 |
| POLD1 | telomere maintenance via semi-conservative replication; S phase of mitotic cell cycle; mitotic cell cycle; telomere maintenance via recombination; telomere maintenance; DNA synthesis involved in DNA repair; nucleobase-containing compound metabolic process; DNA replication; DNA repair; response to UV; DNA replication, removal of RNA primer; DNA replication proofreading; regulation of mitotic cell cycle; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; base-excision repair, gap-filling; base-excision repair; transcription-coupled nucleotide-excision repair; DNA strand elongation involved in DNA replication | 19q13.3 |
| POLD2 | transcription-coupled nucleotide-excision repair; DNA repair; DNA strand elongation involved in DNA replication; DNA replication; base-excision repair; nucleotide-excision repair; nucleotide-excision repair, DNA gap filling; telomere maintenance via semi-conservative replication; telomere maintenance; telomere maintenance via recombination; mitotic cell cycle; S phase of mitotic cell cycle | 7p13 |
| POLD3 | DNA-dependent DNA replication; DNA synthesis involved in DNA repair; telomere maintenance; telomere maintenance via recombination; mitotic cell cycle; S phase of mitotic cell cycle; transcription-coupled nucleotide-excision repair; base-excision repair; nucleotide-excision repair; nucleotide-excision repair, DNA gap filling; mismatch repair; telomere maintenance via semi-conservative replication; DNA strand elongation involved in DNA replication; DNA repair | 11q14 |
| POLD4 | mitotic cell cycle; nucleotide-excision repair, DNA gap filling; S phase of mitotic cell cycle; telomere maintenance via recombination; telomere maintenance; positive regulation of endothelial cell proliferation; DNA replication; DNA strand elongation involved in DNA replication; DNA repair; transcription-coupled nucleotide-excision repair; base-excision repair; nucleotide-excision repair; telomere maintenance via semi-conservative replication | 11q13 |
| POLDIP2 | - | 17q11.2 |
| POLDIP3 | positive regulation of translation | 22q13.2 |
| POLE | telomere maintenance via recombination; G1/S transition of mitotic cell cycle; telomere maintenance via semi-conservative replication; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; base-excision repair, gap-filling; transcription-coupled nucleotide-excision repair; DNA repair; DNA-dependent DNA replication initiation; DNA replication; in utero embryonic development; DNA synthesis involved in DNA repair; telomere maintenance; mitotic cell cycle; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; nucleobase-containing compound metabolic process | 12q24.3 |
| POLE2 | nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; DNA-dependent DNA replication initiation; DNA replication; telomere maintenance; telomere maintenance via recombination; mitotic cell cycle; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; telomere maintenance via semi-conservative replication; nucleotide-excision repair, DNA gap filling | 14q21-q22 |
| POLE3 | DNA replication; histone H3 acetylation | 9q33 |
| POLE4 | histone H3 acetylation | 2p12 |
| POLG | DNA metabolic process; DNA-dependent DNA replication; mitochondrial DNA replication; base-excision repair, gap-filling; aging; metabolic process; cell death | 15q25 |
| POLG2 | metabolic process; glycyl-tRNA aminoacylation; DNA repair; DNA-dependent DNA replication; DNA replication | 17q |
| POLH | regulation of DNA repair; pyrimidine dimer repair; postreplication repair; response to UV-C; DNA repair; DNA replication; DNA synthesis involved in DNA repair | 6p21.1 |
| POLI | DNA replication; DNA repair; metabolic process | 18q21.1 |
| POLK | nucleotide-excision repair, DNA gap filling; DNA replication; DNA repair | 5q13 |
| POLL | DNA repair; nucleotide-excision repair; metabolic process; somatic hypermutation of immunoglobulin genes; DNA replication | 10q23 |
| POLM | DNA repair; B cell differentiation; somatic hypermutation of immunoglobulin genes; DNA recombination | 7p13 |
| POLN | DNA repair; DNA replication | 4p16.3 |
| POLQ | DNA replication; DNA repair | 3q13.33 |
| POLR1A | transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription elongation from RNA polymerase I promoter; termination of RNA polymerase I transcription; rRNA transcription; gene expression | 2p11.2 |
| POLR1B | termination of RNA polymerase I transcription; transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription elongation from RNA polymerase I promoter; embryo implantation; rRNA transcription; embryo development; gene expression; nucleologenesis | 2q13 |
| POLR1C | termination of RNA polymerase I transcription; gene expression; termination of RNA polymerase III transcription; transcription elongation from RNA polymerase III promoter; transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter | 6p21.1 |
| POLR1D | gene expression; termination of RNA polymerase III transcription; transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription elongation from RNA polymerase I promoter; termination of RNA polymerase I transcription; transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase III promoter | 13q12.2 |
| POLR1E | rRNA transcription | 9p13.2 |
| POLR2A | positive regulation of viral transcription; gene expression; DNA repair; viral reproduction; nuclear mRNA splicing, via spliceosome; RNA splicing; protein phosphorylation; mRNA capping; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; nucleotide-excision repair; transcription-coupled nucleotide-excision repair | 17p13.1 |
| POLR2B | nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; positive regulation of viral transcription; viral reproduction; gene expression; RNA splicing; protein phosphorylation; mRNA capping; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter | 4q12 |
| POLR2C | protein phosphorylation; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; mRNA capping; transcription from RNA polymerase II promoter; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; nuclear mRNA splicing, via spliceosome; RNA splicing; positive regulation of viral transcription; viral reproduction; gene expression | 16q13-q21 |
| POLR2CP | - | 21q11.2 |
| POLR2D | transcription from RNA polymerase II promoter; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; nuclear mRNA splicing, via spliceosome; transcription initiation from RNA polymerase II promoter; positive regulation of viral transcription; cellular metabolic process; viral reproduction; gene expression; RNA splicing; protein phosphorylation; mRNA capping; transcription elongation from RNA polymerase II promoter | 2q21 |
| POLR2E | interspecies interaction between organisms; protein phosphorylation; RNA splicing; gene expression; viral reproduction; positive regulation of viral transcription; transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription; DNA repair; nuclear mRNA splicing, via spliceosome; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; mRNA capping; transcription from RNA polymerase III promoter | 19p13.3 |
| POLR2F | positive regulation of viral transcription; viral reproduction; gene expression; RNA splicing; protein phosphorylation; termination of RNA polymerase III transcription; transcription elongation from RNA polymerase III promoter; transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; nuclear mRNA splicing, via spliceosome; mRNA capping | 22q13.1 |
| POLR2G | protein phosphorylation; positive regulation of viral transcription; viral reproduction; gene expression; RNA splicing; apoptotic process; mRNA capping; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; nuclear mRNA splicing, via spliceosome; transcription elongation from RNA polymerase II promoter | 11q13.1 |
| POLR2H | transcription elongation from RNA polymerase II promoter; mRNA capping; transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription; protein phosphorylation; RNA splicing; gene expression; viral reproduction; positive regulation of viral transcription; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; transcription, DNA-dependent; transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription elongation from RNA polymerase I promoter; termination of RNA polymerase I transcription | 3q28 |
| POLR2I | positive regulation of viral transcription; viral reproduction; gene expression; RNA splicing; protein phosphorylation; mRNA capping; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; nuclear mRNA splicing, via spliceosome; transcription elongation from RNA polymerase II promoter | 19q12 |
| POLR2J | protein phosphorylation; positive regulation of viral transcription; viral reproduction; gene expression; RNA splicing; mRNA capping; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; nuclear mRNA splicing, via spliceosome; transcription elongation from RNA polymerase II promoter | 7q22.1 |
| POLR2J2 | - | 7q22.1 |
| POLR2J3 | - | 7q22.1 |
| POLR2J4 | - | 7p13 |
| POLR2K | transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; mRNA capping; transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription; RNA splicing; gene expression; viral reproduction; positive regulation of viral transcription; termination of RNA polymerase I transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; regulation of transcription from RNA polymerase I promoter; transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription elongation from RNA polymerase I promoter | 8q22.2 |
| POLR2KP2 | - | 13q14.2 |
| POLR2L | positive regulation of viral transcription; viral reproduction; gene expression; RNA splicing; protein phosphorylation; termination of RNA polymerase III transcription; transcription elongation from RNA polymerase III promoter; transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase I promoter; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; nuclear mRNA splicing, via spliceosome; mRNA capping | 11p15 |
| POLR2M | maintenance of ER location | 15q21.3 |
| POLR3A | transcription, DNA-dependent; positive regulation of interferon-beta production; transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription; innate immune response; gene expression; response to virus | 10q22-q23 |
| POLR3B | transcription from RNA polymerase III promoter; response to virus; transcription elongation from RNA polymerase III promoter; positive regulation of innate immune response; termination of RNA polymerase III transcription; positive regulation of interferon-beta production; gene expression | 12q23.3 |
| POLR3C | transcription from RNA polymerase III promoter; regulation of transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription; positive regulation of innate immune response; positive regulation of interferon-beta production; response to virus; gene expression | 1q21.1 |
| POLR3D | response to virus; positive regulation of innate immune response; positive regulation of interferon-beta production; gene expression; termination of RNA polymerase III transcription; transcription elongation from RNA polymerase III promoter; transcription from RNA polymerase III promoter | 8q21 |
| POLR3DP1 | - | - |
| POLR3E | innate immune response; gene expression; response to virus; termination of RNA polymerase III transcription; transcription elongation from RNA polymerase III promoter; transcription from RNA polymerase III promoter | 16p12.2 |
| POLR3F | regulation of transcription from RNA polymerase III promoter; gene expression; positive regulation of interferon-beta production; positive regulation of innate immune response; response to virus; termination of RNA polymerase III transcription; transcription elongation from RNA polymerase III promoter; transcription from RNA polymerase III promoter; transcription, DNA-dependent | 20p11.23 |
| POLR3G | positive regulation of innate immune response; positive regulation of interferon-beta production; gene expression; response to virus; termination of RNA polymerase III transcription; transcription elongation from RNA polymerase III promoter; transcription from RNA polymerase III promoter; regulation of transcription from RNA polymerase III promoter | 5q14.3 |
| POLR3GL | transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription; gene expression | 1q21.1 |
| POLR3H | gene expression; transcription elongation from RNA polymerase III promoter; transcription from RNA polymerase III promoter; nucleobase-containing compound metabolic process; termination of RNA polymerase III transcription; response to virus; innate immune response | 22q13.2 |
| POLR3K | transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription; response to virus; gene expression; innate immune response; transcription from RNA polymerase III promoter | 16p13.3 |
| POLR3KP1 | - | 13q21.2 |
| POLR3KP2 | - | 17q25.1 |
| POLRMT | transcription from mitochondrial promoter; gene expression; transcription initiation from mitochondrial promoter | 19p13.3 |
| POLRMTP1 | - | 17q23.2 |
| POM121 | viral reproduction; carbohydrate metabolic process; hexose transport; regulation of glucose transport; protein transport; glucose transport; cytokine-mediated signaling pathway; small molecule metabolic process; mRNA transport; transmembrane transport | 7q11.23 |
| POM121B | mRNA transport; protein transport | 7q11.23 |
| POM121C | protein transport; mRNA transport | 7q11.2 |
| POM121L10P | - | 22q11.23 |
| POM121L12 | - | 7p12.1 |
| POM121L1P | - | 22q11.22 |
| POM121L2 | - | 6p22.1 |
| POM121L6P | - | 6p21.3 |
| POM121L7 | - | 22q11.21 |
| POM121L8P | - | 22q11.2 |
| POM121L9P | - | 22q11.22 |
| POMGNT1 | protein N-linked glycosylation; protein O-linked glycosylation | 1p34.1 |
| POMGNT2 | - | 3p22.1 |
| POMK | - | 8p11.21 |
| POMP | proteasome assembly | 13q12.3 |
| POMT1 | protein O-linked glycosylation; carbohydrate metabolic process; multicellular organismal development; extracellular matrix organization | 9q34.1 |
| POMT2 | protein O-linked glycosylation | 14q24 |
| POMZP3 | - | 7q11.23 |
| PON1 | lipid metabolic process; cholesterol metabolic process; response to external stimulus; response to toxin; positive regulation of cholesterol efflux; aromatic compound catabolic process; positive regulation of transporter activity; carboxylic acid catabolic process; negative regulation of plasma lipoprotein particle oxidation; positive regulation of binding; organophosphate catabolic process; phosphatidylcholine metabolic process | 7q21.3 |
| PON2 | response to oxidative stress; aromatic compound catabolic process | 7q21.3 |
| PON3 | response to external stimulus; aromatic compound catabolic process; carboxylic acid catabolic process | 7q21.3 |
| POP1 | tRNA 5'-leader removal; tRNA catabolic process; RNA processing | 8q22.1 |
| POP4 | tRNA processing; mRNA cleavage; rRNA processing | 19q12 |
| POP5 | RNA metabolic process; tRNA processing | 12q24.31 |
| POP7 | tRNA processing | 7q22 |
| POPDC2 | - | 3q13.33 |
| POPDC3 | - | 6q21 |
| POR | positive regulation of cholesterol biosynthetic process; negative regulation of lipase activity; positive regulation of smoothened signaling pathway; nitric oxide catabolic process; oxidation-reduction process; demethylation; cellular response to follicle-stimulating hormone stimulus; cellular response to peptide hormone stimulus; positive regulation of steroid hormone biosynthetic process; regulation of cholesterol metabolic process; cellular organofluorine metabolic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; response to drug; positive regulation of monooxygenase activity; regulation of growth plate cartilage chondrocyte proliferation; positive regulation of chondrocyte differentiation; fatty acid oxidation; internal peptidyl-lysine acetylation; flavonoid metabolic process; carnitine metabolic process; response to nutrient; nitrate catabolic process | 7q11.2 |
| PORCN | Wnt receptor signaling pathway | Xp11.23 |
| POSTN | tissue development; extracellular matrix organization; regulation of Notch signaling pathway; skeletal system development; cell adhesion | 13q13.3 |
| POT1 | telomere maintenance; telomere maintenance via telomerase; DNA duplex unwinding; telomere capping; telomere formation via telomerase; negative regulation of telomere maintenance via telomerase; positive regulation of telomere maintenance via telomerase; positive regulation of helicase activity; positive regulation of telomerase activity; negative regulation of telomerase activity; positive regulation of DNA strand elongation | 7q31.33 |
| POT1-AS1 | - | 7q31.33 |
| POTEA | - | 8p11.1 |
| POTEB | - | - |
| POTEC | - | 18p11.21 |
| POTED | - | 21q11.2 |
| POTEE | - | 2q21.1 |
| POTEG | - | 14q11.2 |
| POTEI | - | 2q21.1 |
| POTEJ | - | 2q21.1 |
| POTEKP | platelet degranulation; blood coagulation; platelet activation | 2q21.1 |
| POTEM | - | 14q11.2 |
| POU1F1 | negative regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 3p11 |
| POU2AF1 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; humoral immune response | 11q23.1 |
| POU2F1 | regulation of transcription, DNA-dependent; transcription from RNA polymerase III promoter; gene expression; olfactory placode formation; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; lens induction in camera-type eye | 1q24.2 |
| POU2F2 | regulation of transcription, DNA-dependent; humoral immune response; transcription from RNA polymerase II promoter | 19q13.2 |
| POU2F3 | regulation of transcription from RNA polymerase II promoter; epidermis development; positive regulation of transcription from RNA polymerase II promoter; negative regulation by host of viral transcription; wound healing; keratinocyte differentiation | 11q23.3 |
| POU3F1 | regulation of transcription, DNA-dependent; axon ensheathment; epidermis development; positive regulation of gene expression; myelination in peripheral nervous system; keratinocyte differentiation; forebrain development; positive regulation of transcription, DNA-dependent | 1p34.1 |
| POU3F2 | regulation of axonogenesis; regulation of cell differentiation; positive regulation of multicellular organism growth; neuron differentiation; myelination in peripheral nervous system; neurohypophysis development; forebrain ventricular zone progenitor cell division; cerebral cortex radially oriented cell migration; astrocyte development; epidermis development; positive regulation of cell proliferation; regulation of transcription, DNA-dependent; hypothalamus cell differentiation | 6q16 |
| POU3F3 | cerebral cortex radially oriented cell migration; metanephric DCT cell differentiation; metanephric loop of Henle development; metanephric thick ascending limb development; metanephric macula densa development; metanephric ascending thin limb development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of apoptotic process; forebrain ventricular zone progenitor cell division; positive regulation of gene expression; positive regulation of cell proliferation; central nervous system development; multicellular organismal development; regulation of transcription, DNA-dependent; kidney development; negative regulation of transcription from RNA polymerase II promoter | 2q12.1 |
| POU3F4 | negative regulation of mesenchymal cell apoptosis; cochlea morphogenesis; inner ear development; sensory perception of sound; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; forebrain neuron differentiation | Xq21.1 |
| POU4F1 | regulation of neurogenesis; innervation; proprioception involved in equilibrioception; peripheral nervous system neuron development; sensory system development; neuron fate specification; positive regulation of transcription from RNA polymerase II promoter; negative regulation of neuron apoptosis; positive regulation of apoptotic process; habenula development; trigeminal nerve development; central nervous system neuron differentiation; suckling behavior; ventricular compact myocardium morphogenesis; negative regulation of transcription from RNA polymerase II promoter; multicellular organismal development; axonogenesis; synapse assembly; mesoderm development; cell migration in hindbrain | 13q31.1 |
| POU4F2 | retina development in camera-type eye; neuromuscular process controlling balance; axon extension involved in development; positive regulation of transcription from RNA polymerase II promoter; sensory perception of sound; positive regulation of cell differentiation; retinal ganglion cell axon guidance; intracellular estrogen receptor signaling pathway; neuron differentiation; axon guidance; nervous system development; MAPK cascade; negative regulation of transcription from RNA polymerase II promoter | 4q31.2 |
| POU5F1 | regulation of methylation-dependent chromatin silencing; regulation of heart induction by regulation of canonical Wnt receptor signaling pathway; negative regulation of gene silencing by miRNA; cardiac cell fate determination; cell fate commitment involved in formation of primary germ layers; positive regulation of SMAD protein import into nucleus; positive regulation of transcription from RNA polymerase II promoter; mRNA transcription from RNA polymerase II promoter; positive regulation of catenin import into nucleus; somatic stem cell maintenance; blastocyst development; regulation of gene expression; endodermal cell fate specification; BMP signaling pathway involved in heart induction; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; multicellular organismal development; response to wounding; anatomical structure morphogenesis; regulation of asymmetric cell division | 6p21.31 |
| POU5F1B | regulation of transcription, DNA-dependent | 8q24.21 |
| POU5F1P3 | - | 12p13.31 |
| POU5F1P4 | - | 1q22 |
| POU5F1P5 | - | 10q21.3 |
| POU5F2 | - | 5q15 |
| POU6F1 | regulation of transcription, DNA-dependent; brain development; heart development; muscle organ development | 12q13.13 |
| POU6F2 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; ganglion mother cell fate determination; central nervous system development; visual perception | 7p14.1 |
| POU6F2-AS1 | - | 7p14.1 |
| POU6F2-AS2 | - | 7p14.1 |
| PP12708 | - | 7q34 |
| PP12719 | - | - |
| PP13 | - | 17q25.3 |
| PP13004 | - | 7p14.2 |
| PP13439 | - | 3q26.31 |
| PP14571 | - | 2q37.3 |
| PP2D1 | - | 3p24.3 |
| PP7080 | - | 5p15.33 |
| PPA1 | metabolic process; diphosphate metabolic process; gene expression; tRNA aminoacylation for protein translation; phosphate-containing compound metabolic process | 10q11.1-q24 |
| PPA2 | tRNA aminoacylation for protein translation; gene expression; diphosphate metabolic process | 4q25 |
| PPAN-P2RY11 | - | 19p13 |
| PPARA | positive regulation of fatty acid beta-oxidation; intracellular receptor mediated signaling pathway; regulation of fatty acid metabolic process; fatty acid transport; negative regulation of sequestering of triglyceride; negative regulation of cholesterol storage; negative regulation of receptor biosynthetic process; negative regulation of macrophage derived foam cell differentiation; gene expression; epidermis development; heart development; fatty acid metabolic process; lipid metabolic process; regulation of transcription, DNA-dependent; response to hypoxia; negative regulation of transcription from RNA polymerase II promoter; response to insulin stimulus; negative regulation of appetite; wound healing; regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter; regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter; regulation of glycolysis by positive regulation of transcription from RNA polymerase I | 22q13.31 |
| PPARD | glucose transport; cell proliferation; fatty acid transport; cell differentiation; intracellular receptor mediated signaling pathway; cell-substrate adhesion; wound healing; anagen; steroid hormone mediated signaling pathway; keratinocyte proliferation; positive regulation of fat cell differentiation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; decidualization; negative regulation of epithelial cell proliferation; keratinocyte migration; adipose tissue development; gene expression; negative regulation of transcription from RNA polymerase II promoter; placenta development; glucose metabolic process; generation of precursor metabolites and energy; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; lipid metabolic process; fatty acid beta-oxidation; apoptotic process; embryo implantation; cholesterol metabolic process; positive regulation of cell proliferation; axon ensheathment; fatty acid catabol | 6p21.2 |
| PPARG | negative regulation of acute inflammatory response; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cytokine production; placenta development; positive regulation of fatty acid oxidation; response to lipid; response to drug; glucose homeostasis; lipoprotein transport; response to estrogen stimulus; innate immune response; cell fate commitment; positive regulation of fat cell differentiation; low-density lipoprotein particle receptor biosynthetic process; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; response to vitamin A; cell maturation; positive regulation of oligodendrocyte differentiation; white fat cell differentiation; brown fat cell differentiation; positive regulation of sequence-specific DNA binding transcription factor activity; negative regulation of telomerase activity; cellular response to organic cyclic compound; cellular r | 3p25 |
| PPARGC1A | regulation of cell death; RNA splicing; positive regulation of fatty acid oxidation; digestion; mitochondrion organization; brown fat cell differentiation; protein stabilization; positive regulation of sequence-specific DNA binding transcription factor activity; neuron death; response to muscle activity; fatty acid oxidation; respiratory electron transport chain; cellular response to oxidative stress; positive regulation of histone acetylation; androgen receptor signaling pathway; temperature homeostasis; cellular glucose homeostasis; gluconeogenesis; transcription initiation from RNA polymerase II promoter; mRNA processing; response to starvation; negative regulation of neuron apoptosis; cellular respiration; positive regulation of gluconeogenesis; positive regulation of transcription, DNA-dependent; protein complex assembly; positive regulation of transcription from RNA polymerase II promoter | 4p15.1 |
| PPARGC1B | response to cAMP; intracellular estrogen receptor signaling pathway; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; response to glucocorticoid stimulus; positive regulation of receptor activity | 5q32 |
| PPAT | purine ribonucleoside monophosphate biosynthetic process; nucleoside metabolic process; purine base biosynthetic process; lactation; glutamine metabolic process; purine nucleotide biosynthetic process; purine base metabolic process; maternal process involved in female pregnancy; nucleobase-containing small molecule metabolic process; protein homotetramerization; small molecule metabolic process; cellular response to insulin stimulus; organ regeneration | 4q12 |
| PPATP1 | - | 3p12.1 |
| PPBP | platelet degranulation; chemotaxis; positive regulation of cell division; defense response to bacterium; platelet activation; glucose transport; blood coagulation; immune response | 4q12-q13 |
| PPCDC | pantothenate metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; coenzyme biosynthetic process; coenzyme A biosynthetic process; small molecule metabolic process | 15q24.2 |
| PPCS | water-soluble vitamin metabolic process; vitamin metabolic process; coenzyme biosynthetic process; pantothenate metabolic process; small molecule metabolic process | 1p34.2 |
| PPDPF | multicellular organismal development; cell differentiation | 20q13.33 |
| PPEF1 | protein dephosphorylation; detection of stimulus involved in sensory perception | Xp22 |
| PPEF2 | protein dephosphorylation; detection of stimulus involved in sensory perception; response to stimulus; regulation of JUN kinase activity; negative regulation of MAPK cascade; regulation of MAP kinase activity; negative regulation of peptidyl-threonine phosphorylation; visual perception | 4q21.1 |
| PPFIA1 | cell-matrix adhesion; signal transduction | 11q13.3 |
| PPFIA2 | cell-matrix adhesion | 12q21.31 |
| PPFIA3 | regulation of short-term neuronal synaptic plasticity; neurotransmitter secretion | 19q13.33 |
| PPFIA4 | cell communication | 1q32.1 |
| PPFIBP1 | cell adhesion | 12p12.1 |
| PPFIBP2 | DNA integration; cell communication | 11p15.4 |
| PPHLN1 | keratinization | 12q12 |
| PPIA | protein peptidyl-prolyl isomerization; platelet degranulation; RNA-dependent DNA replication; protein folding; blood coagulation; viral reproduction; provirus integration; leukocyte migration; regulation of viral genome replication; interspecies interaction between organisms; entry into host cell; platelet activation; uncoating of virus; initiation of viral infection | 7p13 |
| PPIAL4D | - | 1q21.2 |
| PPIAL4G | protein folding | 1q21.1 |
| PPIAP1 | - | 21q21.1 |
| PPIAP10 | - | 20q13.2 |
| PPIAP11 | - | 5q14.1 |
| PPIAP18 | - | 3p21.32 |
| PPIAP2 | - | 20p11.21 |
| PPIAP20 | - | 19p13.2 |
| PPIAP21 | - | 20q12 |
| PPIAP24 | - | 13q33.3 |
| PPIAP25 | - | 13q14.13 |
| PPIAP26 | - | 13q14.3 |
| PPIAP27 | - | - |
| PPIAP28 | - | 13q12.11 |
| PPIAP29 | - | 6p22.3 |
| PPIAP3 | - | 20q11.23 |
| PPIAP30 | - | 10p13 |
| PPIAP31 | - | 10p11.22 |
| PPIAP6 | - | 14q24.1 |
| PPIAP7 | - | 1p21.2 |
| PPIAP8 | - | 12q23.1 |
| PPIAP9 | - | 6p21.1 |
| PPIB | protein peptidyl-prolyl isomerization; protein folding | 15q21-q22 |
| PPIC | signal transduction; protein folding | 5q23.2 |
| PPID | protein folding | 4q31.3 |
| PPIE | RNA splicing; regulation of transcription, DNA-dependent; protein peptidyl-prolyl isomerization; protein folding; nuclear mRNA splicing, via spliceosome | 1p32 |
| PPIEL | - | 1p34.3 |
| PPIF | regulation of apoptotic process; apoptotic mitochondrial changes; protein folding; regulation of mitochondrial membrane permeability | 10q22-q23 |
| PPIG | RNA splicing; protein folding | 2q31.1 |
| PPIH | protein folding; nuclear mRNA splicing, via spliceosome; RNA splicing; protein complex assembly; protein peptidyl-prolyl isomerization | 1p34.1 |
| PPIHP2 | - | Xq23 |
| PPIL1 | RNA splicing; nuclear mRNA splicing, via spliceosome; protein folding | 6p21.1 |
| PPIL2 | protein polyubiquitination; protein folding; blood coagulation; leukocyte migration | 22q11.21 |
| PPIL3 | nuclear mRNA splicing, via spliceosome; protein folding; RNA splicing | 2q33.1 |
| PPIL4 | protein folding | 6q25.1 |
| PPIL6 | protein folding | 6q21 |
| PPIP5K1 | inositol metabolic process | 15q15.3 |
| PPIP5K2 | inositol metabolic process | 5q21.1 |
| PPL | keratinization | 16p13.3 |
| PPM1A | cell cycle arrest; positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction; peptidyl-threonine dephosphorylation; insulin receptor signaling pathway; negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of SMAD protein complex assembly; positive regulation of Wnt receptor signaling pathway; Wnt receptor signaling pathway; dephosphorylation; positive regulation of transcription, DNA-dependent | 14q23.1 |
| PPM1AP1 | - | 8p22 |
| PPM1B | protein dephosphorylation; peptidyl-threonine dephosphorylation; cytokine-mediated signaling pathway | 2p21 |
| PPM1D | response to radiation; G2/M transition of mitotic cell cycle; protein dephosphorylation; peptidyl-threonine dephosphorylation; cell cycle; negative regulation of cell proliferation; response to bacterium | 17q23.2 |
| PPM1E | negative regulation of protein kinase activity; positive regulation of stress fiber assembly; cellular response to drug; peptidyl-threonine dephosphorylation | 17q22 |
| PPM1F | positive regulation of epithelial cell migration; positive regulation of growth; negative regulation of transcription, DNA-dependent; negative regulation of protein kinase activity by regulation of protein phosphorylation; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; peptidyl-threonine dephosphorylation; cellular response to drug; negative regulation of peptidyl-serine phosphorylation; positive regulation of cell-substrate adhesion; positive regulation of chemotaxis; positive regulation of gene expression; negative regulation of protein kinase activity; intrinsic apoptotic signaling pathway; positive regulation of focal adhesion assembly; positive regulation of stress fiber assembly | 22q11.22 |
| PPM1G | cell cycle arrest; peptidyl-threonine dephosphorylation; protein dephosphorylation | 2p23.3 |
| PPM1H | - | 12q14.1 |
| PPM1J | protein dephosphorylation | 1p13.2 |
| PPM1K | protein dephosphorylation | 4q22.1 |
| PPM1L | MAPK cascade; protein dephosphorylation; sphingolipid metabolic process; transmembrane receptor protein serine/threonine kinase signaling pathway; sphingolipid biosynthetic process; small molecule metabolic process | 3q26.1 |
| PPM1M | protein dephosphorylation | 3p21.2 |
| PPM1N | - | 19q13.32 |
| PPME1 | protein demethylation | 11q13.4 |
| PPOX | porphyrin-containing compound metabolic process; porphyrin-containing compound biosynthetic process; response to drug; small molecule metabolic process; protoporphyrinogen IX metabolic process; oxidation-reduction process; heme biosynthetic process | 1q22 |
| PPP1CA | cell division; carbohydrate metabolic process; glycogen metabolic process; regulation of glycogen biosynthetic process; protein dephosphorylation; lipid metabolic process; cell cycle; lung development; small molecule metabolic process; branching morphogenesis of a tube; regulation of glycogen catabolic process; triglyceride catabolic process | 11q13 |
| PPP1CB | regulation of cell adhesion; small molecule metabolic process; cell division; triglyceride catabolic process; carbohydrate metabolic process; glycogen metabolic process; regulation of glycogen biosynthetic process; regulation of glycogen catabolic process; protein dephosphorylation; lipid metabolic process; cell cycle | 2p23 |
| PPP1CC | mitotic prometaphase; mitotic cell cycle; carbohydrate metabolic process; protein dephosphorylation; lipid metabolic process; triglyceride catabolic process; M phase of mitotic cell cycle; small molecule metabolic process; regulation of nucleocytoplasmic transport; cell division; glycogen metabolic process | 12q24.1-q24.2 |
| PPP1R10 | transcription, DNA-dependent; protein import into nucleus | 6p21.3 |
| PPP1R11 | negative regulation of catalytic activity | 6p21.3 |
| PPP1R11P2 | - | Xp11.21 |
| PPP1R12A | mitosis; regulation of myosin-light-chain-phosphatase activity; regulation of cell adhesion; signal transduction; protein dephosphorylation; regulation of nucleocytoplasmic transport; centrosome organization | 12q15-q21 |
| PPP1R12B | regulation of muscle contraction; positive regulation of catalytic activity; signal transduction | 1q32.1 |
| PPP1R12C | - | 19q13.42 |
| PPP1R13B | negative regulation of cell cycle; induction of apoptosis; apoptotic process | 14q32.33 |
| PPP1R13L | cardiac muscle contraction; negative regulation of transcription from RNA polymerase II promoter; cardiac right ventricle morphogenesis; ventricular cardiac muscle tissue development; regulation of transcription, DNA-dependent; apoptotic process; post-embryonic development; embryonic camera-type eye development; multicellular organism growth; multicellular organismal homeostasis; hair cycle | 19q13.32 |
| PPP1R14A | regulation of phosphorylation | 19q13.1 |
| PPP1R14B | regulation of phosphorylation | 11q13 |
| PPP1R14BP2 | - | 2q33.3 |
| PPP1R14BP5 | - | 6q22.32 |
| PPP1R14C | regulation of phosphorylation | 6q24.3-q25.3 |
| PPP1R14D | regulation of phosphorylation | 15q15.1 |
| PPP1R15A | response to stress; regulation of translation; apoptotic process; response to DNA damage stimulus; cell cycle arrest; endoplasmic reticulum unfolded protein response | 19q13.2 |
| PPP1R15B | ER overload response; dephosphorylation; response to hydrogen peroxide; response to oxidative stress; regulation of translation | 1q32.1 |
| PPP1R16A | - | 8q24.3 |
| PPP1R16B | regulation of filopodium assembly; signal transduction | 20q11.23 |
| PPP1R17 | protein phosphorylation; signal transduction; behavior; regulation of phosphatase activity; negative regulation of catalytic activity; intracellular protein kinase cascade; central nervous system development | 7p15 |
| PPP1R18 | - | 6p21.3 |
| PPP1R1A | carbohydrate metabolic process; signal transduction; glycogen metabolic process | 12q13.2 |
| PPP1R1B | visual learning; response to amphetamine; transcription, DNA-dependent; intracellular signal transduction; signal transduction; negative regulation of female receptivity | 17q12 |
| PPP1R1C | signal transduction | 2q31.3 |
| PPP1R2 | carbohydrate metabolic process; glycogen metabolic process; generation of precursor metabolites and energy; regulation of phosphoprotein phosphatase activity; regulation of signal transduction | 3q29 |
| PPP1R21 | - | 2p16.3 |
| PPP1R26 | negative regulation of phosphatase activity | 9q34.3 |
| PPP1R26-AS1 | - | - |
| PPP1R26P1 | - | - |
| PPP1R26P5 | - | 22q11.21 |
| PPP1R27 | negative regulation of phosphatase activity | 17q25.3 |
| PPP1R2P1 | carbohydrate metabolic process; regulation of phosphoprotein phosphatase activity; regulation of signal transduction; glycogen metabolic process | - |
| PPP1R2P3 | regulation of phosphoprotein phosphatase activity; regulation of signal transduction; glycogen metabolic process; carbohydrate metabolic process | 5q33.3 |
| PPP1R2P5 | - | 2q12.3 |
| PPP1R32 | - | 11q12.2 |
| PPP1R35 | negative regulation of phosphatase activity | 7q22.1 |
| PPP1R36 | negative regulation of phosphatase activity | 14q23.3 |
| PPP1R37 | negative regulation of phosphatase activity | 19q13.32 |
| PPP1R3B | glycogen metabolic process; carbohydrate metabolic process | 8p23.1 |
| PPP1R3C | regulation of glycogen biosynthetic process; carbohydrate metabolic process; regulation of glycogen catabolic process | 10q23-q24 |
| PPP1R3D | glycogen metabolic process; regulation of glycogen catabolic process; carbohydrate metabolic process; regulation of glycogen biosynthetic process | 20q13.3 |
| PPP1R3E | glycogen metabolic process; regulation of glycogen biosynthetic process; regulation of glycogen catabolic process; carbohydrate metabolic process | 14q11.2 |
| PPP1R3F | - | Xp11.23 |
| PPP1R3G | - | 6p25.1 |
| PPP1R42 | - | 8q13.1 |
| PPP1R7 | regulation of catalytic activity | 2q37.3 |
| PPP1R8 | regulation of transcription, DNA-dependent; mRNA processing; RNA catabolic process; cell proliferation; RNA splicing; regulation of catalytic activity | 1p35.3 |
| PPP1R8P1 | - | 1p33 |
| PPP1R9A | multicellular organismal development; nervous system development; cell differentiation | 7q21.3 |
| PPP1R9B | regulation of cell proliferation; regulation of opioid receptor signaling pathway; cellular response to morphine; filopodium assembly; cell differentiation; multicellular organismal development; regulation of exit from mitosis; cell migration; RNA splicing; regulation of cell growth by extracellular stimulus; nervous system development; negative regulation of cell growth; cell cycle arrest | 17q21.33 |
| PPP2CA | RNA splicing; mesoderm development; meiosis; induction of apoptosis; regulation of protein catabolic process; ceramide metabolic process; fibroblast growth factor receptor signaling pathway; response to organic substance; gene expression; regulation of receptor activity; negative regulation of epithelial to mesenchymal transition; RNA metabolic process; mRNA metabolic process; second-messenger-mediated signaling; regulation of Wnt receptor signaling pathway; regulation of cell adhesion; negative regulation of cell growth; regulation of protein autophosphorylation; regulation of growth; regulation of transcription, DNA-dependent; regulation of DNA replication; inactivation of MAPK activity; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; negative regulation of tyrosine phosphorylation of Stat3 protein; regulation of cell differentiation; protein heterotrimerization; positive regulation of protein serine/threonine kinase activity; protein dephosphorylation | 5q31.1 |
| PPP2CB | protein dephosphorylation; response to antibiotic; negative regulation of Ras protein signal transduction; proteasomal ubiquitin-dependent protein catabolic process; negative regulation of apoptotic process; response to hydrogen peroxide; regulation of gene expression; fibroblast growth factor receptor signaling pathway | 8p12 |
| PPP2R1A | RNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; inactivation of MAPK activity; mitotic cell cycle; regulation of DNA replication; regulation of transcription, DNA-dependent; protein complex assembly; protein dephosphorylation; ceramide metabolic process; induction of apoptosis; chromosome segregation; RNA splicing; fibroblast growth factor receptor signaling pathway; response to organic substance; gene expression; G2/M transition of mitotic cell cycle; mRNA metabolic process; second-messenger-mediated signaling; regulation of Wnt receptor signaling pathway; regulation of cell adhesion; negative regulation of cell growth; regulation of growth; negative regulation of tyrosine phosphorylation of Stat3 protein; regulation of apoptotic process; regulation of cell differentiation; peptidyl-serine dephosphorylation | 19q13.41 |
| PPP2R1B | positive regulation of extrinsic apoptotic signaling pathway in absence of ligand | 11q23.2 |
| PPP2R2A | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; protein dephosphorylation; signal transduction; gene expression; RNA metabolic process; mRNA metabolic process | 8p21.2 |
| PPP2R2B | apoptotic process; signal transduction; cell death | 5q32 |
| PPP2R2B-IT1 | - | - |
| PPP2R2C | signal transduction | 4p16.1 |
| PPP2R2D | mitosis; cell cycle; cell division; exit from mitosis; signal transduction | 10q26.3 |
| PPP2R3A | protein dephosphorylation | 3q22.1 |
| PPP2R3B | cell cycle arrest; protein dephosphorylation; G1/S transition of mitotic cell cycle; mitotic cell cycle | Xp22.33; Yp11.3 |
| PPP2R3C | - | 14q13.2 |
| PPP2R4 | ATP catabolic process; protein folding; negative regulation of phosphoprotein phosphatase activity; positive regulation of phosphoprotein phosphatase activity; positive regulation of protein dephosphorylation; negative regulation of protein dephosphorylation; positive regulation of apoptotic process; regulation of phosphoprotein phosphatase activity | 9q34 |
| PPP2R5A | signal transduction; positive regulation of protein dephosphorylation; negative regulation of establishment of protein localization in plasma membrane; negative regulation of lipid kinase activity | 1q32.2-q32.3 |
| PPP2R5B | activation of signaling protein activity involved in unfolded protein response; signal transduction; regulation of receptor activity; positive regulation of neuron projection development; endoplasmic reticulum unfolded protein response; positive regulation of protein complex assembly; regulation of protein autophosphorylation; regulation of peptidyl-tyrosine phosphorylation; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of nerve growth factor receptor signaling pathway; negative regulation of G0 to G1 transition; positive regulation of cell cycle arrest; cellular response to growth factor stimulus | 11q12 |
| PPP2R5C | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; signal transduction; negative regulation of cell proliferation; protein processing; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; proteasomal ubiquitin-dependent protein catabolic process | 14q32.31 |
| PPP2R5D | signal transduction; nervous system development | 6p21.1 |
| PPP2R5E | signal transduction | 14q23.1 |
| PPP3CA | G1/S transition of mitotic cell cycle; response to amphetamine; protein dephosphorylation; protein import into nucleus; calcium ion transport; response to stress; dephosphorylation; cellular response to drug; T cell activation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of insulin secretion; skeletal muscle fiber development; regulation of synaptic transmission; regulation of excitatory postsynaptic membrane potential; cellular response to glucose stimulus | 4q24 |
| PPP3CB | response to cytokine stimulus; T cell differentiation; calcium ion-dependent exocytosis; negative regulation of T cell mediated cytotoxicity; response to amphetamine; protein phosphorylation; protein dephosphorylation; signal transduction; heart development; learning; memory; regulation of gene expression; dephosphorylation; social behavior; cellular response to drug; positive regulation of insulin secretion involved in cellular response to glucose stimulus; T cell proliferation; T cell activation; T cell homeostasis; positive regulation of transcription, DNA-dependent; muscle cell homeostasis; regulation of synaptic plasticity; axon extension; regulation of insulin secretion | 10q22.2 |
| PPP3CB-AS1 | - | 10q22.2 |
| PPP3CC | apoptotic process; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products | 8p21.3 |
| PPP3R1 | lung epithelial cell differentiation; NFAT protein import into nucleus; patterning of blood vessels; epithelial to mesenchymal transition; protein dephosphorylation; apoptotic process; heart development; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; protein localization to nucleus | 2p15 |
| PPP4C | regulation of double-strand break repair via homologous recombination; microtubule cytoskeleton organization; NIK/NF-kappaB cascade | 16p11.2 |
| PPP4R1 | protein phosphorylation; signal transduction | 18p11.22 |
| PPP4R1L | - | 20q13.32 |
| PPP4R2 | regulation of double-strand break repair via homologous recombination; protein modification process; RNA splicing; mRNA processing | 3p13 |
| PPP4R3A | - | 14q32.12 |
| PPP4R3B | - | 2p16.1 |
| PPP4R3CP | - | Xp21.3 |
| PPP4R4 | - | 14q32.2 |
| PPP5C | transcription, DNA-dependent; protein dephosphorylation; mitosis; signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 19q13.3 |
| PPP5D1 | - | - |
| PPP6C | G1/S transition of mitotic cell cycle; protein dephosphorylation; cell cycle | 9q33.3 |
| PPP6R1 | regulation of phosphoprotein phosphatase activity | 19q13.42 |
| PPP6R2 | - | 22q13.33 |
| PPP6R2P1 | - | 21q11.2 |
| PPP6R3 | regulation of phosphoprotein phosphatase activity | 11q13 |
| PPRC1 | regulation of transcription, DNA-dependent | 10q24.32 |
| PPT1 | sphingolipid catabolic process; lipid catabolic process; protein transport; adult locomotory behavior; associative learning; cell death; metabolic process; grooming behavior; regulation of synapse structure and activity; visual perception; protein catabolic process; negative regulation of cell growth; membrane raft organization; regulation of phospholipase A2 activity; negative regulation of apoptotic process; negative regulation of neuron apoptosis; cellular protein catabolic process; positive regulation of receptor-mediated endocytosis; positive regulation of pinocytosis; neuron development; cofactor metabolic process; cofactor transport; response to stimulus; nervous system development; neurotransmitter secretion; lysosomal lumen acidification; lysosome organization; pinocytosis; receptor-mediated endocytosis; protein modification process; DNA fragmentation involved in apoptotic nuclear change; protein depalmitoylation; brain development | 1p32 |
| PPT2 | protein modification process | 6p21.3 |
| PPTC7 | - | 12q24.11 |
| PPWD1 | nuclear mRNA splicing, via spliceosome; RNA splicing; protein folding | 5q12.3 |
| PQBP1 | regulation of transcription, DNA-dependent | Xp11.23 |
| PQLC1 | - | 18q23 |
| PQLC1P2 | - | 4q21.22 |
| PQLC2 | - | 1p36.13 |
| PQLC2L | - | 3q25.32 |
| PQLC3 | - | 2p25.1 |
| PRAC1 | - | 17q21 |
| PRADC1 | - | 2p13.2 |
| PRADC1P1 | - | 3p22.2 |
| PRAF2 | protein transport; L-glutamate transport | Xp11.23 |
| PRAM1 | regulation of neutrophil degranulation; integrin-mediated signaling pathway | 19p13.2 |
| PRAME | negative regulation of apoptotic process; negative regulation of retinoic acid receptor signaling pathway; negative regulation of cell differentiation; negative regulation of transcription, DNA-dependent; positive regulation of cell proliferation; regulation of growth | 22q11.22 |
| PRAMEF1 | - | 1p36.21 |
| PRAMEF10 | - | 1p36.21 |
| PRAMEF12 | - | 1p36.21 |
| PRAMEF16 | - | 1p36.21 |
| PRAMEF19 | - | 1p36.21 |
| PRAMEF20 | - | 1p36.21 |
| PRAMEF24P | - | 22q11.22 |
| PRAP1 | - | 10q26.3 |
| PRB1 | - | 12p13.2 |
| PRB2 | - | 12p13.2 |
| PRC1 | cell cycle; cytokinesis; mitotic spindle elongation | 15q26.1 |
| PRCC | cell cycle; mitotic cell cycle checkpoint | 1q21.1 |
| PRCD | visual perception; response to stimulus | 17q25.1 |
| PRCP | proteolysis; blood coagulation; blood coagulation, intrinsic pathway | 11q14 |
| PRDM1 | negative regulation of B cell proliferation; negative regulation of lipopolysaccharide-mediated signaling pathway; cell fate commitment; positive regulation of B cell differentiation; negative regulation of transcription from RNA polymerase II promoter; embryonic placenta development; maternal placenta development; germ cell development; positive regulation of gene expression | 6q21 |
| PRDM10 | regulation of transcription, DNA-dependent | 11q25 |
| PRDM11 | - | 11p11 |
| PRDM12 | regulation of transcription, DNA-dependent; neurogenesis | 9q33-q34 |
| PRDM13 | regulation of transcription, DNA-dependent | 6q16.2 |
| PRDM14 | fertilization; germ cell development; cell morphogenesis; cell fate specification; homeostasis of number of cells within a tissue; regulation of transcription, DNA-dependent | 8q13.3 |
| PRDM15 | regulation of transcription, DNA-dependent | 21q22.3 |
| PRDM16 | tongue development; negative regulation of transcription from RNA polymerase II promoter; neurogenesis; negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of granulocyte differentiation; somatic stem cell maintenance; regulation of cellular respiration; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; white fat cell differentiation; brown fat cell differentiation; palate development | 1p36.23-p33 |
| PRDM2 | response to estradiol stimulus; regulation of transcription, DNA-dependent | 1p36.21 |
| PRDM4 | regulation of transcription, DNA-dependent; negative regulation of cell cycle; signal transduction; transcription from RNA polymerase II promoter; cell proliferation; negative regulation of cell growth; cellular response to nutrient; nerve growth factor receptor signaling pathway; cellular response to growth factor stimulus | 12q23-q24.1 |
| PRDM5 | mitotic cell cycle; chromatin modification; histone H3-K9 methylation; negative regulation of transcription, DNA-dependent; histone deacetylation | 4q25-q26 |
| PRDM6 | chromatin modification; negative regulation of transcription, DNA-dependent; negative regulation of smooth muscle cell differentiation; neurogenesis | 5q23.2 |
| PRDM7 | chromatin modification; regulation of transcription, DNA-dependent | 16q24.3 |
| PRDM8 | regulation of transcription, DNA-dependent | 4q21 |
| PRDM9 | regulation of transcription, DNA-dependent; meiosis; chromatin modification | 5p14 |
| PRDX1 | hydrogen peroxide catabolic process; cell proliferation; skeletal system development | 1p34.1 |
| PRDX2 | hydrogen peroxide catabolic process; regulation of apoptotic process; negative regulation of T cell differentiation; thymus development; homeostasis of number of cells; negative regulation of reactive oxygen species metabolic process; T cell proliferation; response to lipopolysaccharide; negative regulation of NF-kappaB transcription factor activity; negative regulation of lipopolysaccharide-mediated signaling pathway; positive regulation of blood coagulation; removal of superoxide radicals; regulation of hydrogen peroxide metabolic process; response to oxidative stress; anti-apoptosis; cellular response to oxidative stress; respiratory burst involved in inflammatory response; activation of MAPK activity | 19p13.2 |
| PRDX2P1 | - | 13p12 |
| PRDX2P2 | - | 10p11.21 |
| PRDX2P3 | - | - |
| PRDX2P4 | - | 6q16.2 |
| PRDX3 | positive regulation of NF-kappaB transcription factor activity; response to hydrogen peroxide; maternal placenta development; response to oxidative stress; mitochondrion organization; regulation of mitochondrial membrane potential; positive regulation of cell proliferation; negative regulation of neuron apoptosis; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; hydrogen peroxide catabolic process; myeloid cell differentiation; response to lipopolysaccharide; negative regulation of kinase activity; cellular response to reactive oxygen species | 10q25-q26 |
| PRDX3P1 | - | - |
| PRDX3P2 | - | 1p35.3 |
| PRDX3P3 | - | 13q13.3 |
| PRDX4 | I-kappaB phosphorylation | Xp22.11 |
| PRDX5 | inflammatory response; response to oxidative stress; cellular response to reactive oxygen species; negative regulation of apoptotic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 11q13 |
| PRDX6 | phospholipid catabolic process; response to oxidative stress; lipid catabolic process; hydrogen peroxide catabolic process | 1q25.1 |
| PREB | regulation of transcription, DNA-dependent; ER to Golgi vesicle-mediated transport; activation of signaling protein activity involved in unfolded protein response; protein transport; cellular membrane organization; vesicle-mediated transport; protein N-linked glycosylation via asparagine; endoplasmic reticulum unfolded protein response; post-translational protein modification; cellular protein metabolic process; COPII vesicle coating | 2p23.3 |
| PRELID1 | multicellular organismal development; immune response | 5q35.3 |
| PRELID1P1 | - | 6q22.32 |
| PRELID1P3 | - | - |
| PRELID1P4 | - | 15q14 |
| PRELID2 | - | 5q32 |
| PRELID3A | - | 18p11.21 |
| PRELID3B | - | 20q13.32 |
| PRELP | skeletal system development; cell aging | 1q32 |
| PREP | proteolysis | 6q22 |
| PREPL | proteolysis | 2p21 |
| PREX1 | regulation of Rho protein signal transduction; superoxide metabolic process; apoptotic process; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; actin filament polymerization; positive regulation of Rho GTPase activity; regulation of small GTPase mediated signal transduction; neutrophil activation; nerve growth factor receptor signaling pathway | 20q13.13 |
| PREX2 | G-protein coupled receptor signaling pathway; intracellular signal transduction; regulation of Rho protein signal transduction; positive regulation of Rac GTPase activity | 8q13.2 |
| PRF1 | defense response to virus; defense response to tumor cell; immune response to tumor cell; apoptotic process; cellular defense response; circadian rhythm; cytolysis; response to ethanol; protein homooligomerization | 10q22 |
| PRG2 | immune response; defense response to bacterium | 11q12 |
| PRG4 | cell proliferation; immune response | 1q25-q31 |
| PRH1 | - | 12p13.2 |
| PRH2 | - | 12p13.2 |
| PRICKLE1 | positive regulation of protein ubiquitination; neural tube closure; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; protein import into nucleus; negative regulation of transcription, DNA-dependent; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of cardiac muscle cell myoblast differentiation | 12q12 |
| PRICKLE2 | neuron projection development; establishment or maintenance of epithelial cell apical/basal polarity | 3p14.1 |
| PRICKLE2-AS1 | - | - |
| PRICKLE3 | - | Xp11.23 |
| PRICKLE4 | - | 6p21.31 |
| PRIM1 | G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; M/G1 transition of mitotic cell cycle; mitotic cell cycle; telomere maintenance via recombination; telomere maintenance; DNA replication; DNA replication, synthesis of RNA primer; DNA-dependent DNA replication initiation; DNA strand elongation involved in DNA replication; telomere maintenance via semi-conservative replication | 12q13 |
| PRIM2 | DNA replication, synthesis of RNA primer; DNA replication; DNA strand elongation involved in DNA replication; telomere maintenance via semi-conservative replication; G1/S transition of mitotic cell cycle; telomere maintenance via recombination; mitotic cell cycle; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; DNA-dependent DNA replication initiation; telomere maintenance | 6p12-p11.1 |
| PRIMA1 | establishment of localization in cell; neurotransmitter catabolic process | 14q32.12 |
| PRIMPOL | DNA replication; DNA replication, synthesis of RNA primer | 4q35.1 |
| PRKAA1 | rhythmic process; response to hypoxia; regulation of transcription, DNA-dependent; negative regulation of apoptotic process; positive regulation of cholesterol biosynthetic process; positive regulation of anti-apoptosis; positive regulation of glycolysis; negative regulation of glucosylceramide biosynthetic process; regulation of fatty acid oxidation; insulin receptor signaling pathway; negative regulation of lipid catabolic process; fatty acid homeostasis; regulation of energy homeostasis; protein phosphorylation; fatty acid biosynthetic process; response to stress; cell cycle arrest; signal transduction; regulation of circadian rhythm; cellular response to nutrient levels; negative regulation of TOR signaling cascade; histone-serine phosphorylation; cellular response to glucose starvation; chromatin modification; Wnt receptor signaling pathway; positive regulation of autophagy; lipid biosynthetic process; activation of MAPK activity; glucose homeostasis | 5p12 |
| PRKAA2 | cellular lipid metabolic process; chromatin modification; regulation of lipid metabolic process; response to caffeine; cellular response to nutrient levels; negative regulation of TOR signaling cascade; histone-serine phosphorylation; cellular response to glucose starvation; regulation of fatty acid biosynthetic process; glucose homeostasis; regulation of circadian rhythm; negative regulation of apoptotic process; regulation of energy homeostasis; cellular response to organic nitrogen; small molecule metabolic process; positive regulation of glycolysis; regulation of fatty acid oxidation; rhythmic process; protein heterooligomerization; fatty acid homeostasis; response to activity; energy reserve metabolic process; regulation of transcription, DNA-dependent; protein phosphorylation; cholesterol biosynthetic process; carnitine shuttle; response to stress; cell cycle arrest; signal transduction; insulin receptor signaling pathway; lipid biosynthetic process; positive regulation of autophagy; Wnt receptor signal | 1p31 |
| PRKAB1 | fatty acid biosynthetic process; cell cycle arrest; signal transduction; insulin receptor signaling pathway; regulation of fatty acid oxidation; regulation of catalytic activity; protein heterooligomerization | 12q24.1-q24.3 |
| PRKAB2 | regulation of fatty acid oxidation; small molecule metabolic process; cellular lipid metabolic process; regulation of fatty acid biosynthetic process; insulin receptor signaling pathway; signal transduction; cell cycle arrest; carnitine shuttle; energy reserve metabolic process | 1q21.1 |
| PRKACA | mesoderm formation; energy reserve metabolic process; gluconeogenesis; regulation of osteoblast differentiation; small molecule metabolic process; regulation of cellular respiration; protein autophosphorylation; positive regulation of protein export from nucleus; nerve growth factor receptor signaling pathway; glucose metabolic process; carbohydrate metabolic process; protein phosphorylation; mitotic cell cycle; G2/M transition of mitotic cell cycle; triglyceride catabolic process; regulation of insulin secretion; negative regulation of meiotic cell cycle; regulation of synaptic transmission, glutamatergic; transmembrane transport; regulation of proteasomal protein catabolic process; positive regulation of cell cycle arrest; cellular response to glucose stimulus; cellular response to parathyroid hormone stimulus; cellular response to glucagon stimulus; regulation of tight junction assembly; activation of protein kinase A activity; sperm capacitation; peptidyl-serine phosphorylation; fibroblast growth factor r | 19p13.1 |
| PRKACB | lipid metabolic process; glucose metabolic process; cellular response to glucagon stimulus; transmembrane transport; regulation of insulin secretion; nerve growth factor receptor signaling pathway; small molecule metabolic process; activation of protein kinase A activity; triglyceride catabolic process; fibroblast growth factor receptor signaling pathway; blood coagulation; synaptic transmission; intracellular protein kinase cascade; activation of phospholipase C activity; G-protein signaling, coupled to cAMP nucleotide second messenger; epidermal growth factor receptor signaling pathway; signal transduction; water transport; protein phosphorylation; energy reserve metabolic process; gluconeogenesis; carbohydrate metabolic process | 1p31.1 |
| PRKACG | signal transduction; glucose metabolic process; carbohydrate metabolic process; cellular response to glucagon stimulus; transmembrane transport; regulation of insulin secretion; nerve growth factor receptor signaling pathway; small molecule metabolic process; activation of protein kinase A activity; triglyceride catabolic process; male gonad development; fibroblast growth factor receptor signaling pathway; blood coagulation; spermatogenesis; intracellular protein kinase cascade; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; water transport; lipid metabolic process; energy reserve metabolic process; gluconeogenesis | 9q13 |
| PRKAG1 | regulation of glycolysis; protein heterooligomerization; regulation of catalytic activity; regulation of fatty acid oxidation; positive regulation of protein kinase activity; insulin receptor signaling pathway; spermatogenesis; signal transduction; cell cycle arrest; fatty acid biosynthetic process; protein phosphorylation | 12q12-q14 |
| PRKAG2 | regulation of glycolysis; energy reserve metabolic process; glycogen metabolic process; positive regulation of peptidyl-threonine phosphorylation; negative regulation of protein kinase activity; sterol biosynthetic process; positive regulation of protein kinase activity; regulation of catalytic activity; regulation of glucose import; small molecule metabolic process; cellular lipid metabolic process; regulation of fatty acid biosynthetic process; regulation of fatty acid metabolic process; insulin receptor signaling pathway; intracellular protein kinase cascade; cell cycle arrest; regulation of fatty acid oxidation; carnitine shuttle; ATP biosynthetic process | 7q36.1 |
| PRKAG2-AS1 | - | - |
| PRKAG3 | fatty acid biosynthetic process; intracellular protein kinase cascade; insulin receptor signaling pathway; cell cycle arrest; regulation of fatty acid oxidation | 2q35 |
| PRKAR1A | signal transduction; cellular response to glucagon stimulus; transmembrane transport; regulation of insulin secretion; regulation of catalytic activity; nerve growth factor receptor signaling pathway; small molecule metabolic process; intracellular signal transduction; activation of protein kinase A activity; regulation of protein phosphorylation; fibroblast growth factor receptor signaling pathway; energy reserve metabolic process; regulation of transcription from RNA polymerase II promoter; water transport; mesoderm formation; epidermal growth factor receptor signaling pathway; activation of phospholipase C activity; blood coagulation | 17q23-q24 |
| PRKAR1B | blood coagulation; cellular response to glucagon stimulus; transmembrane transport; regulation of insulin secretion; nerve growth factor receptor signaling pathway; small molecule metabolic process; activation of protein kinase A activity; fibroblast growth factor receptor signaling pathway; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; signal transduction; water transport; protein phosphorylation; energy reserve metabolic process; regulation of protein phosphorylation | 7p22 |
| PRKAR2A | regulation of protein kinase activity; cellular response to glucagon stimulus; transmembrane transport; protein heterooligomerization; regulation of insulin secretion; nerve growth factor receptor signaling pathway; small molecule metabolic process; intracellular signal transduction; fibroblast growth factor receptor signaling pathway; activation of protein kinase A activity; energy reserve metabolic process; water transport; signal transduction; epidermal growth factor receptor signaling pathway; activation of phospholipase C activity; regulation of protein phosphorylation; blood coagulation | 3p21.3-p21.2 |
| PRKAR2A-AS1 | - | - |
| PRKAR2B | regulation of protein kinase activity; cellular response to glucagon stimulus; transmembrane transport; regulation of insulin secretion; regulation of catalytic activity; nerve growth factor receptor signaling pathway; small molecule metabolic process; intracellular signal transduction; activation of protein kinase A activity; fibroblast growth factor receptor signaling pathway; blood coagulation; G2/M transition of mitotic cell cycle; mitotic cell cycle; energy reserve metabolic process; fatty acid metabolic process; water transport; signal transduction; learning; epidermal growth factor receptor signaling pathway; activation of phospholipase C activity | 7q22 |
| PRKCA | negative regulation of glial cell apoptosis; histone H3-T6 phosphorylation; intracellular signal transduction; positive regulation of blood vessel endothelial cell migration; small molecule metabolic process; positive regulation of lipopolysaccharide-mediated signaling pathway; positive regulation of macrophage differentiation; positive regulation of angiogenesis; positive regulation of cell adhesion; positive regulation of mitotic cell cycle; nerve growth factor receptor signaling pathway; regulation of insulin secretion; positive regulation of ERK1 and ERK2 cascade; response to interleukin-1; regulation of platelet aggregation; positive regulation of dense core granule biogenesis; induction of apoptosis by extracellular signals; mRNA metabolic process; platelet activation; positive regulation of endothelial cell proliferation; energy reserve metabolic process; protein phosphorylation; apoptotic process; signal transduction; epidermal growth factor receptor signaling pathway; activation of phospholipase C ac | 17q22-q23.2 |
| PRKCB | positive regulation of angiogenesis; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of B cell receptor signaling pathway; lipoprotein transport; B cell activation; intracellular signal transduction; histone H3-T6 phosphorylation; positive regulation of vascular endothelial growth factor receptor signaling pathway; platelet activation; chromatin modification; negative regulation of glucose transport; blood coagulation; synaptic transmission; signal transduction; apoptotic process; protein phosphorylation; regulation of transcription from RNA polymerase II promoter; B cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; negative regulation of insulin receptor signaling pathway | 16p11.2 |
| PRKCD | positive regulation of superoxide anion generation; negative regulation of MAP kinase activity; negative regulation of glial cell apoptosis; positive regulation of protein dephosphorylation; intracellular signal transduction; B cell proliferation; neutrophil activation; positive regulation of catalytic activity; negative regulation of insulin receptor signaling pathway; nerve growth factor receptor signaling pathway; negative regulation of inflammatory response; negative regulation of peptidyl-tyrosine phosphorylation; protein stabilization; negative regulation of filopodium assembly; interferon-gamma-mediated signaling pathway; negative regulation of platelet aggregation; cellular senescence; positive regulation of ceramide biosynthetic process; positive regulation of glucosylceramide catabolic process; positive regulation of sphingomyelin catabolic process; positive regulation of response to DNA damage stimulus; interleukin-10 production; protein phosphorylation; apoptotic process; cellular component disass | 3p21.31 |
| PRKCDBP | - | 11p15.4 |
| PRKCE | intracellular signal transduction; locomotory exploration behavior; TRAM-dependent toll-like receptor 4 signaling pathway; positive regulation of catalytic activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; response to morphine; positive regulation of MAPK cascade; nerve growth factor receptor signaling pathway; positive regulation of lipid catabolic process; release of sequestered calcium ion into cytosol; cell division; regulation of insulin secretion involved in cellular response to glucose stimulus; positive regulation of mucus secretion; cellular response to ethanol; cellular response to hypoxia; positive regulation of cell cycle cytokinesis; positive regulation of wound healing; regulation of peptidyl-tyrosine phosphorylation; positive regulation of insulin secretion; positive regulation of synaptic transmission, GABAergic; macrophage activation involved in immune response; protein phosphorylation; induction of apoptosis; cell cycle; cell adhesion; signal transduction; epidermal growth | 2p21 |
| PRKCG | platelet activation; negative regulation of protein ubiquitination; positive regulation of mismatch repair; intracellular signal transduction; negative regulation of protein catabolic process; response to morphine; negative regulation of neuron apoptosis; nerve growth factor receptor signaling pathway; response to pain; innervation; synaptic transmission; fibroblast growth factor receptor signaling pathway; protein phosphorylation; signal transduction; epidermal growth factor receptor signaling pathway; activation of phospholipase C activity; blood coagulation; learning or memory; chemosensory behavior; cell death; phosphorylation | 19q13.4 |
| PRKCH | signal transduction; regulation of tight junction assembly; positive regulation of glial cell proliferation; positive regulation of NF-kappaB transcription factor activity; positive regulation of B cell receptor signaling pathway; positive regulation of keratinocyte differentiation; intracellular signal transduction; platelet activation; cell differentiation; positive regulation of macrophage derived foam cell differentiation; blood coagulation; protein phosphorylation; negative regulation of glial cell apoptosis | 14q23.1 |
| PRKCI | negative regulation of neuron apoptosis; establishment of apical/basal cell polarity; establishment or maintenance of epithelial cell apical/basal polarity; cell-cell junction organization; positive regulation of glucose import; secretion; nerve growth factor receptor signaling pathway; Golgi vesicle budding; positive regulation of NF-kappaB transcription factor activity; positive regulation of glial cell proliferation; response to interleukin-1; tight junction assembly; positive regulation of establishment of protein localization in plasma membrane; positive regulation of endothelial cell apoptosis; response to peptide hormone stimulus; eye photoreceptor cell development; intracellular signal transduction; negative regulation of glial cell apoptosis; cell junction assembly; cellular response to insulin stimulus; vesicle-mediated transport; cellular membrane organization; positive regulation of neuron projection development; actin filament organization; cytoskeleton organization; anti-apoptosis; protein targe | 3q26.3 |
| PRKCQ | positive regulation of filopodium assembly; regulation of G2/M transition of mitotic cell cycle; positive regulation of T cell proliferation; intracellular signal transduction; response to insulin stimulus; positive regulation of interleukin-4 production; positive regulation of interleukin-17 production; neuron differentiation; platelet activation; regulation of vasoconstriction; response to organic cyclic compound; tissue regeneration; response to glucose stimulus; response to heat; blood coagulation; aging; axon guidance; inflammatory response; cellular component disassembly involved in apoptosis; apoptotic process; positive regulation of stress fiber assembly; regulation of cell growth; response to hypoxia; regulation of transcription, DNA-dependent; protein phosphorylation; membrane protein ectodomain proteolysis; positive regulation of T-helper 2 cell activation; positive regulation of T-helper 17 type immune response; regulation of platelet aggregation; negative regulation of T cell apoptosis; positive | 10p15 |
| PRKCQ-AS1 | - | 10p14 |
| PRKCSH | cellular protein metabolic process; protein folding; intracellular protein kinase cascade; protein N-linked glycosylation via asparagine; post-translational protein modification; innate immune response | 19p13.2 |
| PRKCZ | platelet activation; establishment of cell polarity; microtubule cytoskeleton organization; protein phosphorylation; anti-apoptosis; inflammatory response; signal transduction; blood coagulation; peptidyl-serine phosphorylation; positive regulation of interleukin-10 secretion; positive regulation of interleukin-13 secretion; positive regulation of interleukin-5 secretion; positive regulation of T-helper 2 cell cytokine production; positive regulation of excitatory postsynaptic membrane potential; positive regulation of ERK1 and ERK2 cascade; long-term synaptic potentiation; positive regulation of NF-kappaB transcription factor activity; negative regulation of peptidyl-tyrosine phosphorylation; positive regulation of insulin receptor signaling pathway; negative regulation of insulin receptor signaling pathway; positive regulation of T-helper 2 cell differentiation; intracellular signal transduction; positive regulation of interleukin-4 production; negative regulation of protein complex assembly | 1p36.33-p36.2 |
| PRKD1 | positive regulation of NF-kappaB transcription factor activity; regulation of integrin-mediated signaling pathway; negative regulation of cell death; signal transduction; cellular response to oxidative stress; positive regulation of CREB transcription factor activity; cell differentiation; sphingolipid biosynthetic process; peptidyl-serine phosphorylation; positive regulation of neuron projection development; regulation of keratinocyte proliferation; positive regulation of endothelial cell migration; cell proliferation; nervous system development; intracellular protein kinase cascade; integrin-mediated signaling pathway; endothelial cell chemotaxis; cellular response to vascular endothelial growth factor stimulus; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of blood vessel endothelial cell migration; small molecule metabolic process; innate immune response; positive regulation of osteoblast differentiation; positive regulation of angiogenesis; negative regulation of endocytos | 14q11 |
| PRKD2 | positive regulation of CREB transcription factor activity; positive regulation of interleukin-8 production; positive regulation of interleukin-2 production; positive regulation of vascular endothelial growth factor receptor signaling pathway; peptidyl-serine phosphorylation; positive regulation of endothelial cell migration; cell death; intracellular protein kinase cascade; positive regulation of blood vessel endothelial cell migration; protein phosphorylation; positive regulation of endothelial cell proliferation; endothelial cell chemotaxis; intracellular signal transduction; positive regulation of NF-kappaB transcription factor activity; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of T cell receptor signaling pathway; endothelial tube morphogenesis; positive regulation of ERK1 and ERK2 cascade; positive regulation of DNA biosynthetic process; T cell receptor signaling pathway; vascular endothelial growth factor receptor signaling pathway; protein | 19q13.3 |
| PRKD3 | protein phosphorylation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; intracellular signal transduction | 2p21 |
| PRKDC | somitogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of apoptotic process; germ cell programmed cell death; T cell receptor V(D)J recombination; immunoglobulin V(D)J recombination; T cell differentiation in thymus; cellular response to insulin stimulus; protein destabilization; lymphocyte differentiation; response to gamma radiation; heart development; brain development; protein phosphorylation; protein modification process; DNA recombination; double-strand break repair via nonhomologous end joining; double-strand break repair; telomere maintenance; peptidyl-serine phosphorylation; B cell lineage commitment; pro-B cell differentiation; T cell lineage commitment; DNA repair | 8q11 |
| PRKG1 | signal transduction; negative regulation of platelet aggregation; regulation of GTPase activity; actin cytoskeleton organization; blood coagulation; protein phosphorylation | 10q11.2 |
| PRKG1-AS1 | - | - |
| PRKG2 | nitric oxide metabolic process; regulation of nitric-oxide synthase activity; small molecule metabolic process; blood coagulation; signal transduction; protein phosphorylation | 4q13.1-q21.1 |
| PRKRA | skeletal system morphogenesis; positive regulation of catalytic activity; negative regulation of cell proliferation; immune response; response to stress; induction of apoptosis; protein phosphorylation; response to virus; production of siRNA involved in RNA interference; gene silencing by RNA; outer ear morphogenesis; middle ear morphogenesis | 2q31.2 |
| PRKRIP1 | negative regulation of protein kinase activity; negative regulation of phosphorylation | 7q22.1 |
| PRKRIR | signal transduction; response to stress; negative regulation of cell proliferation | 11q13.5 |
| PRKRIRP2 | - | - |
| PRKRIRP3 | - | 10q21.1 |
| PRKRIRP4 | - | 11p14.3 |
| PRKRIRP5 | - | 6p24.2 |
| PRKRIRP8 | - | 1q43 |
| PRKX | peptidyl-serine phosphorylation; myeloid cell differentiation; regulation of cell adhesion; regulation of cell migration; cell-substrate adhesion; endothelial cell migration; protein autophosphorylation; multicellular organismal development; cell adhesion; endothelial cell proliferation; angiogenesis; epithelial tube morphogenesis; kidney morphogenesis; regulation of epithelial cell differentiation involved in kidney development | Xp22.3 |
| PRKXP1 | - | 15q26.3 |
| PRKY | protein phosphorylation | Yp11.2 |
| PRL | cell surface receptor signaling pathway; female pregnancy; lactation; cell proliferation; regulation of multicellular organism growth; positive regulation of JAK-STAT cascade; JAK-STAT cascade involved in growth hormone signaling pathway | 6p22.2-p21.3 |
| PRLR | mammary gland epithelial cell differentiation; steroid biosynthetic process; anti-apoptosis; cell surface receptor signaling pathway; activation of transmembrane receptor protein tyrosine kinase activity; embryo implantation; lactation; regulation of cell adhesion; regulation of epithelial cell differentiation; T cell activation; activation of JAK2 kinase activity; mammary gland alveolus development; prostate gland growth; JAK-STAT cascade involved in growth hormone signaling pathway | 5p13.2 |
| PRM1 | nucleus organization; chromosome condensation; cell differentiation; spermatid development; spermatogenesis; multicellular organismal development; DNA packaging | 16p13.2 |
| PRM3 | chromosome condensation; cell differentiation; multicellular organismal development; spermatogenesis | 16p13.3 |
| PRMT1 | protein methylation; negative regulation of megakaryocyte differentiation; histone H4-R3 methylation; neuron projection development; peptidyl-arginine methylation; histone methylation; cell surface receptor signaling pathway; in utero embryonic development | 19q13.3 |
| PRMT2 | negative regulation of transcription, DNA-dependent; regulation of androgen receptor signaling pathway; developmental cell growth; negative regulation of G1/S transition of mitotic cell cycle; positive regulation of transcription, DNA-dependent; protein methylation; induction of apoptosis; signal transduction; histone methylation; negative regulation of NF-kappaB transcription factor activity; histone arginine methylation; peptidyl-arginine N-methylation | 21q22.3 |
| PRMT3 | peptidyl-arginine N-methylation | 11p15.1 |
| PRMT5 | histone H4-R3 methylation; peptidyl-arginine N-methylation; peptidyl-arginine methylation, to symmetrical-dimethyl arginine; peptidyl-arginine methylation; ncRNA metabolic process; chromatin modification; RNA metabolic process; gene expression; regulation of mitosis; regulation of transcription, DNA-dependent; spliceosomal snRNP assembly; cell proliferation | 14q11.2 |
| PRMT6 | chromatin modification; peptidyl-arginine methylation, to asymmetrical-dimethyl arginine; histone H3-R2 methylation; histone H4-R3 methylation; histone methylation; base-excision repair; interspecies interaction between organisms; negative regulation of transcription, DNA-dependent | 1p13.3 |
| PRMT7 | peptidyl-arginine methylation; histone H4-R3 methylation; histone methylation; regulation of protein binding; DNA methylation involved in gamete generation; peptidyl-arginine omega-N-methylation; histone arginine methylation; cell differentiation; peptidyl-arginine methylation, to symmetrical-dimethyl arginine; chromatin modification; regulation of transcription, DNA-dependent; regulation of gene expression by genetic imprinting; spliceosomal snRNP assembly | 16q22.1 |
| PRMT8 | regulation of protein binding; histone arginine methylation; peptidyl-arginine methylation, to asymmetrical-dimethyl arginine; histone methylation; peptidyl-arginine methylation | 12p13.3 |
| PRMT9 | - | 4q31.23 |
| PRNCR1 | - | 8q24.21 |
| PRND | protein homooligomerization; cellular copper ion homeostasis | 20pter-p12 |
| PRNP | negative regulation of activated T cell proliferation; response to copper ion; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of interleukin-2 production; negative regulation of interleukin-17 production; negative regulation of interferon-gamma production; metabolic process; axon guidance; cell cycle arrest; cell cycle; response to oxidative stress; anti-apoptosis; cellular copper ion homeostasis; response to cadmium ion; negative regulation of protein phosphorylation; negative regulation of calcineurin-NFAT signaling cascade; protein homooligomerization; negative regulation of T cell receptor signaling pathway | 20p13 |
| PRNT | - | 20p13 |
| PRO0471 | - | 3p13-q26.1 |
| PRO0611 | - | 1p35.2 |
| PRO1082 | - | 3p21.1-q13.13 |
| PRO1483 | - | 11p13 |
| PRO2012 | - | 1q42.13 |
| PRO2214 | - | 5q12.2 |
| PRO2949 | - | 8q23.1 |
| PRO2958 | - | 2p24.3 |
| PROB1 | - | 5q31.2 |
| PROC | negative regulation of apoptotic process; proteolysis; blood coagulation; peptidyl-glutamic acid carboxylation; negative regulation of blood coagulation; post-translational protein modification; cellular protein metabolic process; leukocyte migration | 2q13-q14 |
| PROCA1 | lipid catabolic process | 17q11.2 |
| PROCR | immune response; blood coagulation; antigen processing and presentation; negative regulation of coagulation | 20q11.2 |
| PRODH | small molecule metabolic process; glutamate biosynthetic process; cellular nitrogen compound metabolic process; proline metabolic process; proline catabolic process; induction of apoptosis by oxidative stress | 22q11.21 |
| PRODH2 | proline catabolic process; glutamate biosynthetic process | 19q13.1 |
| PROK2 | neuropeptide signaling pathway; positive regulation of smooth muscle contraction; sensory perception of pain; cell proliferation; circadian rhythm; spermatogenesis; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway; inflammatory response; chemotaxis; anti-apoptosis; angiogenesis; activation of MAPK activity | 3p13 |
| PROKR1 | anti-apoptosis | 2p13.1 |
| PROKR2 | - | 20p12.3 |
| PROL1 | regulation of sensory perception of pain; negative regulation of peptidase activity; negative regulation of endopeptidase activity | 4q13.3 |
| PROM1 | retina layer formation; photoreceptor cell maintenance; camera-type eye photoreceptor cell differentiation; retina morphogenesis in camera-type eye | 4p15.32 |
| PROM2 | - | 2q11.1 |
| PROP1 | negative regulation of transcription from RNA polymerase II promoter; blood vessel development; central nervous system development; organ morphogenesis; dorsal/ventral pattern formation; cell migration; hypothalamus cell differentiation; negative regulation of apoptotic process; somatotropin secreting cell differentiation; canonical Wnt receptor signaling pathway; hypophysis morphogenesis; gland development; positive regulation of transcription from RNA polymerase II promoter | 5q35.3 |
| PRORSD1P | - | 2p16.1 |
| PROS1 | negative regulation of endopeptidase activity; proteolysis; platelet degranulation; blood coagulation; peptidyl-glutamic acid carboxylation; platelet activation; post-translational protein modification; cellular protein metabolic process; leukocyte migration | 3q11.2 |
| PROSC | - | 8p11.2 |
| PROSER1 | - | 13q13.3 |
| PROSER2 | - | 10p14 |
| PROSER2-AS1 | - | 10p14 |
| PROSER3 | - | 19q13.12 |
| PROSP | - | 3p21-cen |
| PROX1 | atrial cardiac muscle tissue morphogenesis; ventricular cardiac muscle tissue morphogenesis; retina morphogenesis in camera-type eye; embryonic retina morphogenesis in camera-type eye; endocardium formation; positive regulation of sarcomere organization; ventricular septum morphogenesis; aorta smooth muscle tissue morphogenesis; positive regulation of heart growth; regulation of transcription involved in lymphatic endothelial cell fate commitment; lens fiber cell morphogenesis; hepatocyte differentiation; negative regulation of bile acid biosynthetic process; hepatocyte proliferation; neuronal stem cell maintenance; positive regulation of neural precursor cell proliferation; positive regulation of forebrain neuron differentiation; positive regulation of G1/S transition checkpoint; lymphatic endothelial cell differentiation; positive regulation of endothelial cell migration; dentate gyrus development; cell fate determination; ventricular cardiac myofibril development; kidney development; liver development; pos | 1q41 |
| PROX1-AS1 | - | 1q32.3 |
| PROX2 | multicellular organismal development; regulation of transcription, DNA-dependent | 14q24.3 |
| PROZ | proteolysis; blood coagulation; peptidyl-glutamic acid carboxylation; post-translational protein modification; cellular protein metabolic process | 13q34 |
| PRPF18 | mRNA processing; RNA splicing | 10p13 |
| PRPF19 | negative regulation of neuron differentiation; inner cell mass cell proliferation; nuclear mRNA splicing, via spliceosome; lipid biosynthetic process; RNA splicing; DNA repair; spliceosome assembly; positive regulation of astrocyte differentiation; protein polyubiquitination | 11q12.2 |
| PRPF3 | RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions | 1q21.1 |
| PRPF31 | assembly of spliceosomal tri-snRNP; nuclear mRNA splicing, via spliceosome; RNA splicing | 19q13.42 |
| PRPF38A | mRNA processing; RNA splicing | 1p32.3 |
| PRPF38AP1 | - | 10p14 |
| PRPF38AP2 | - | 10p12.33 |
| PRPF38B | RNA splicing; mRNA processing | 1p13.3 |
| PRPF39 | RNA splicing; mRNA processing | 14q21.2 |
| PRPF4 | gene expression; RNA splicing; RNA processing; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions | 9q31-q33 |
| PRPF40A | regulation of cytokinesis; cell division; cell migration; RNA splicing; regulation of cell shape; cell cycle; cytoskeleton organization; mRNA processing | 2q23.3 |
| PRPF40B | mRNA processing; RNA splicing | 12q |
| PRPF4B | nuclear mRNA splicing, via spliceosome; protein phosphorylation; RNA splicing | 6p25.2 |
| PRPF6 | RNA splicing; positive regulation of transcription from RNA polymerase II promoter; gene expression; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions; spliceosome assembly; assembly of spliceosomal tri-snRNP | 20q13.33 |
| PRPF8 | RNA splicing, via transesterification reactions; nuclear mRNA splicing, via spliceosome; mRNA processing; RNA splicing; gene expression | 17p13.3 |
| PRPH | intermediate filament cytoskeleton organization | 12q12-q13 |
| PRPH2 | retina development in camera-type eye; cell adhesion; visual perception | 6p21.2-p12.3 |
| PRPS1 | hypoxanthine biosynthetic process; small molecule metabolic process; cellular biosynthetic process; urate biosynthetic process; ribonucleoside monophosphate biosynthetic process; nucleoside metabolic process; nervous system development; pyrimidine nucleotide biosynthetic process; purine nucleotide biosynthetic process; purine base metabolic process; 5-phosphoribose 1-diphosphate biosynthetic process; carbohydrate metabolic process | Xq22.3 |
| PRPS1L1 | ribonucleoside monophosphate biosynthetic process; nucleoside metabolic process; nucleotide biosynthetic process; cellular biosynthetic process | 7p21.1 |
| PRPS2 | nucleotide biosynthetic process; cellular biosynthetic process; ribonucleoside monophosphate biosynthetic process; nucleoside metabolic process; nucleobase-containing compound metabolic process | Xp22.2 |
| PRPSAP1 | nucleotide biosynthetic process; nucleobase-containing compound metabolic process; negative regulation of catalytic activity | 17q24-q25 |
| PRPSAP2 | nucleobase-containing compound metabolic process; nucleotide biosynthetic process; negative regulation of catalytic activity | 17p11.2-p12 |
| PRR11 | - | 17q22 |
| PRR12 | - | 19q13.33 |
| PRR13 | regulation of transcription, DNA-dependent | 12q12 |
| PRR14 | - | 16p11.2 |
| PRR14L | - | 22q12.2 |
| PRR15 | multicellular organismal development | 7p14.3 |
| PRR15L | - | 17q21.32 |
| PRR16 | - | 5q23.1 |
| PRR18 | - | 6q27 |
| PRR19 | - | 19q13.2 |
| PRR22 | - | 19p13.3 |
| PRR26 | - | 10p15.3 |
| PRR27 | - | 4q13.3 |
| PRR29 | - | 17q23.3 |
| PRR3 | - | 6p21.33 |
| PRR30 | - | 2p23.3 |
| PRR34 | - | 22q13.31 |
| PRR34-AS1 | - | 22q13.31 |
| PRR36 | - | 19p13.2 |
| PRR4 | visual perception | 12p13 |
| PRR5 | cell cycle | 22q13 |
| PRR5-ARHGAP8 | - | 22q13 |
| PRR5L | - | 11p13-p12 |
| PRR7 | - | 5q35.3 |
| PRR7-AS1 | - | 5q35.3 |
| PRR9 | - | 1q21.3 |
| PRRC1 | - | 5q23.2 |
| PRRC2A | - | 6p21.3 |
| PRRC2B | - | 9q34.13 |
| PRRC2C | - | 1q23.3 |
| PRRG1 | - | Xp21.1 |
| PRRG2 | - | 19q13.33 |
| PRRG3 | - | Xq28 |
| PRRG4 | - | 11p13 |
| PRRT1 | response to biotic stimulus | 6p21.32 |
| PRRT2 | response to biotic stimulus | 16p11.2 |
| PRRT3 | - | 3p25.3 |
| PRRT3-AS1 | - | - |
| PRRT4 | - | 7q32.1 |
| PRRX1 | multicellular organismal development | 1q24 |
| PRRX2 | positive regulation of mesenchymal cell proliferation; regulation of transcription, DNA-dependent; multicellular organismal development; embryonic limb morphogenesis; middle ear morphogenesis; inner ear morphogenesis; positive regulation of smoothened signaling pathway; embryonic cranial skeleton morphogenesis; artery morphogenesis; cartilage development | 9q34.1 |
| PRRX2-AS1 | - | 9q34.11 |
| PRSS1 | proteolysis; digestion | 7q34 |
| PRSS12 | proteolysis; zymogen activation | 4q28.1 |
| PRSS16 | protein catabolic process; proteolysis | 6p21 |
| PRSS2 | positive regulation of cell growth; proteolysis; positive regulation of cell adhesion; innate immune response; collagen catabolic process; digestion | 7q34 |
| PRSS21 | proteolysis | 16p13.3 |
| PRSS22 | proteolysis | 16p13.3 |
| PRSS23 | proteolysis | 11q14.1 |
| PRSS27 | proteolysis | 16p13.3 |
| PRSS29P | proteolysis | 16p13.3 |
| PRSS3 | innate immune response; endothelial cell migration; zymogen activation; digestion; proteolysis | 9p11.2 |
| PRSS30P | - | 16p13.3 |
| PRSS33 | proteolysis | 16p13.3 |
| PRSS35 | - | 6q14.2 |
| PRSS36 | proteolysis | 16p11.2 |
| PRSS37 | proteolysis | 7q34 |
| PRSS38 | proteolysis | 1q42.13 |
| PRSS3P1 | - | 7q34 |
| PRSS3P2 | - | 7q34 |
| PRSS41 | proteolysis | 16p13.3 |
| PRSS42 | proteolysis | 3p21.31 |
| PRSS44 | proteolysis | 3p21.31 |
| PRSS46 | - | 3p21.31 |
| PRSS47 | proteolysis | 9q22.31 |
| PRSS48 | proteolysis | 4q31.3 |
| PRSS50 | proteolysis | 3p21.31 |
| PRSS51 | - | 8p23.1 |
| PRSS53 | proteolysis | 16p11.2 |
| PRSS54 | - | 16q21 |
| PRSS55 | proteolysis | 8p23.1 |
| PRSS56 | proteolysis | 2q37.1 |
| PRSS57 | proteolysis | 19p13.3 |
| PRSS8 | proteolysis; response to mineralocorticoid stimulus; response to peptide hormone stimulus; response to drug; positive regulation of sodium ion transport; hair follicle development | 16p11.2 |
| PRTFDC1 | striatum development; cerebral cortex neuron differentiation; grooming behavior; cytolysis; glucose 1-phosphate metabolic process; nucleoside metabolic process; response to amphetamine; purine ribonucleoside salvage; adenine salvage; guanine salvage; central nervous system neuron development; hypoxanthine metabolic process; GMP salvage; lymphocyte proliferation; dendrite morphogenesis; GMP catabolic process; IMP salvage; positive regulation of dopamine metabolic process | 10p12.1 |
| PRTG | multicellular organismal development | 15q21.3 |
| PRTN3 | proteolysis; positive regulation of cell proliferation; collagen catabolic process; negative regulation of phagocytosis; mature dendritic cell differentiation | 19p13.3 |
| PRUNE | - | 1q21 |
| PRUNE2 | induction of apoptosis; apoptotic process; G1 phase | 9q21.2 |
| PRUNEP1 | - | 13q12.13 |
| PRX | nerve development; axon ensheathment | 19q13.2 |
| PRYP3 | - | Yq11.223 |
| PS1TP4 | - | - |
| PSAP | glycosphingolipid metabolic process; small molecule metabolic process; positive regulation of catalytic activity; platelet activation; blood coagulation; lipid transport; sphingolipid metabolic process; lipid metabolic process; platelet degranulation | 10q21-q22 |
| PSAPL1 | lipid metabolic process; sphingolipid metabolic process | 4p16.1 |
| PSAT1 | pyridoxine biosynthetic process; L-serine biosynthetic process; small molecule metabolic process; cellular amino acid biosynthetic process; cellular nitrogen compound metabolic process | 9q21.2 |
| PSAT1P1 | - | 8q11.21 |
| PSAT1P3 | - | 1p31.1 |
| PSAT1P4 | - | 3q26.1 |
| PSCA | - | 8q24.2 |
| PSD | signal transduction; neuron differentiation; regulation of ARF protein signal transduction | 10q24 |
| PSD2 | regulation of ARF protein signal transduction | 5q31.2 |
| PSD3 | regulation of ARF protein signal transduction | 8p21.3 |
| PSD4 | regulation of ARF protein signal transduction | 2q13 |
| PSEN1 | synaptic vesicle targeting; cell-cell adhesion; heart development; autophagy; apoptotic process; anti-apoptosis; response to DNA damage stimulus; response to oxidative stress; negative regulation of epidermal growth factor-activated receptor activity; Notch signaling pathway; Notch receptor processing; protein processing; memory; cell death; induction of apoptosis by extracellular signals; embryo development; post-embryonic development; protein transport; L-glutamate transport; choline transport; beta-amyloid metabolic process; negative regulation of neuron apoptosis; skin morphogenesis; positive regulation of protein kinase activity; nerve growth factor receptor signaling pathway; regulation of synaptic plasticity; thymus development; neuron development; skeletal system morphogenesis; brain morphogenesis; positive regulation of MAP kinase activity; epithelial cell proliferation; negative regulation of axonogenesis; positive regulation of coagulation; T cell receptor signaling pathway; negative regulation of | 14q24.3 |
| PSEN2 | Notch receptor processing; memory; cell death; induction of apoptosis by extracellular signals; embryo development; protein transport; protein processing; dorsal/ventral neural tube patterning; embryonic limb morphogenesis; forebrain development; membrane protein intracellular domain proteolysis; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; intracellular signal transduction; locomotion; anagen; amyloid precursor protein catabolic process; positive regulation of apoptotic process; positive regulation of catalytic activity; hemopoietic progenitor cell differentiation; skin morphogenesis; negative regulation of transcription from RNA polymerase II promoter; response to hypoxia; cell fate specification; somitogenesis; positive regulation of receptor recycling; negative regulation of protein phosphorylation; hair follicle development; Notch signaling pathway; T cell activation involved in immune response; myeloid leukocyte differentiation; proteolysis; membrane protein ectodoma | 1q31-q42 |
| PSENEN | Notch signaling pathway; nerve growth factor receptor signaling pathway; positive regulation of catalytic activity; amyloid precursor protein catabolic process; membrane protein intracellular domain proteolysis; membrane protein ectodomain proteolysis; protein processing; apoptotic process; Notch receptor processing; induction of apoptosis by extracellular signals | 19q13.12 |
| PSG1 | female pregnancy | 19q13.2 |
| PSG10P | - | 19q13.2 |
| PSG11 | female pregnancy | 19q13.2 |
| PSG2 | female pregnancy; cell migration | 19q13.1-q13.2 |
| PSG3 | female pregnancy; defense response | 19q13.2 |
| PSG4 | female pregnancy; defense response | 19q13.2 |
| PSG5 | female pregnancy | 19q13.2 |
| PSG6 | female pregnancy | 19q13.2 |
| PSG7 | female pregnancy | 19q13.2 |
| PSG8 | - | 19q13.2 |
| PSG9 | defense response; female pregnancy | 19q13.2 |
| PSIP1 | initiation of viral infection; interspecies interaction between organisms; positive regulation of transcription from RNA polymerase II promoter; nuclear mRNA 5'-splice site recognition; provirus integration; viral reproduction; response to heat; response to oxidative stress; regulation of transcription, DNA-dependent | 9p22.3 |
| PSKH1 | protein phosphorylation | 16q22.1 |
| PSKH2 | - | 8q21.3 |
| PSMA1 | cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein polyubiquitination; M/G1 transition of mitotic cell cycle; gene expression; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; ubiquitin-dependent protein catabolic process; regulation of cellular amino acid metabolic process; apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; RNA metabolic process; viral reproduction; proteolysis involved in cellular protein catabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; small molecule metabolic process; antigen processing and presentation of exogenous | 11p15.1 |
| PSMA2 | regulation of cellular amino acid metabolic process; apoptotic process; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; response to virus; viral reproduction; RNA metabolic process; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; small molecule metabolic process; ubiquitin-dependent protein catabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I; mitotic cell cycle; M/G1 transition of mitotic cell cycle; protein polyubiquitination; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; positive regulatio | 7p13 |
| PSMA2P2 | - | 8q22.1 |
| PSMA2P3 | - | 2q33.1 |
| PSMA3 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; proteolysis involved in cellular protein catabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; interspecies interaction between organisms; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein polyubiquitination; M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; ubiquitin-dependent pr | 14q23 |
| PSMA3-AS1 | - | 14q23.1 |
| PSMA4 | G1/S transition of mitotic cell cycle; cell cycle checkpoint; S phase of mitotic cell cycle; proteolysis involved in cellular protein catabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; interspecies interaction between organisms; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; regulation of cellular amino acid metabolic process; ubiquitin-dependent protein | 15q25.1 |
| PSMA5 | S phase of mitotic cell cycle; cell cycle checkpoint; G1/S transition of mitotic cell cycle; M/G1 transition of mitotic cell cycle; proteolysis involved in cellular protein catabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mRNA metabolic process; viral reproduction; RNA metabolic process; protein polyubiquitination; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; | 1p13 |
| PSMA6 | mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; regulation of cellular amino acid metabolic process; ubiquitin-dependent protein catabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I; mitotic cell cycle; M/G1 transition of mitotic cell cycle; protein polyubiquitination; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; proteolysis involved in cellular protein catabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negati | 14q13 |
| PSMA7 | ubiquitin-dependent protein catabolic process; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic process; RNA metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; small molecule metabolic process; interspecies interaction between organisms; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; proteolysis involved in cellular protein catabolic process; viral reproduction; gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; regulation of cellular amino acid metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC | 20q13.33 |
| PSMA8 | M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; ubiquitin-dependent protein catabolic process; small molecule metabolic process; regulation of cellular amino acid metabolic process; cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; proteolysis involved in cellular protein catabolic process; apoptotic process; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; DNA damage response, signal transduction by p53 class mediator resulting | 18q11.2 |
| PSMB1 | cell cycle checkpoint; S phase of mitotic cell cycle; proteolysis involved in cellular protein catabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; interspecies interaction between organisms; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mRNA metabolic process; viral reproduction; RNA metabolic process; G1/S transition of mitotic cell cycle; protein polyubiquitination; M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous pep | 6q27 |
| PSMB10 | RNA metabolic process; protein polyubiquitination; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint; M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; regulation of cellular amino acid metabolic process; apoptotic process; humoral immune response; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; viral reproduction; proteolysis involved in cellular protein catabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; interspecies interaction between organisms; small molecule metabolic process; regulation of apoptotic pro | 16q22.1 |
| PSMB2 | regulation of cellular amino acid metabolic process; mitotic cell cycle; apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; response to organic nitrogen; gene expression; response to organic cyclic compound; viral reproduction; RNA metabolic process; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; small molecule metabolic process; interspecies interaction between organisms; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; proteolysis involved in cellular protein catabolic process; antigen processing and presentati | 1p34.2 |
| PSMB3 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; regulation of cellular amino acid metabolic process; apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; viral reproduction; RNA metabolic process; proteolysis involved in cellular protein catabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; interspecies interaction between organisms; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mRNA metabolic process; protein polyubiquitinat | 17q12 |
| PSMB3P2 | - | 2q35 |
| PSMB4 | cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; negative regulation of inflammatory response to antigenic stimulus; regulation of cellular amino acid metabolic process; apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; small molecule metabolic process; interspecies interaction between organisms; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; proteolysis inv | 1q21 |
| PSMB5 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; regulation of cellular amino acid metabolic process; apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; response to oxidative stress; gene expression; viral reproduction; small molecule metabolic process; RNA metabolic process; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; interspecies interaction between organisms; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; proteolysis involved in cellular protein catabolic pr | 14q11.2 |
| PSMB6 | antigen processing and presentation of peptide antigen via MHC class I; ubiquitin-dependent protein catabolic process; regulation of cellular amino acid metabolic process; apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; small molecule metabolic process; interspecies interaction between organisms; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; proteolysis involved in cellular protein catabolic process; m | 17p13 |
| PSMB7 | antigen processing and presentation of exogenous peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; regulation of cellular amino acid metabolic process; apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; viral reproduction; proteolysis involved in cellular protein catabolic process; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; interspecies interaction between organisms; small molecule metabolic process; regulation of apoptotic process; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mRNA metabolic process; RNA metabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; mitotic cell cycle; M/G | 9q34.11-q34.12 |
| PSMB8 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; regulation of cellular amino acid metabolic process; cytokine-mediated signaling pathway; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; small molecule metabolic process; interspecies interaction between organisms; fat cell differentiation; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; proteolysis involved in cellular protein catabolic process; type I interferon-mediated signaling pathway; antigen pro | 6p21.3 |
| PSMB8-AS1 | - | - |
| PSMB9 | cell cycle checkpoint; protein polyubiquitination; M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; regulation of cellular amino acid metabolic process; apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; small molecule metabolic process; interspecies interaction between organisms; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in m | 6p21.3 |
| PSMC1 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; small molecule metabolic process; regulation of apoptotic process; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein polyubiquitination; M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; ATP catabolic process; regulation of cellular amino acid metabolic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; cell cycle checkpoint; apoptotic process; viral reproduction; RNA metabolic process; mRNA metabolic process; protein catabolic process; anaphase-promoting complex-dependent proteasomal | 14q32.11 |
| PSMC1P1 | - | 3p14.1 |
| PSMC1P10 | - | 2p24.2 |
| PSMC1P11 | - | 6p25.1 |
| PSMC1P12 | - | 1p12 |
| PSMC1P2 | - | 7p15.2 |
| PSMC1P3 | - | 7q33 |
| PSMC1P7 | - | 3q26.1 |
| PSMC1P8 | - | 12p12.3 |
| PSMC1P9 | - | 12p12.3 |
| PSMC2 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; interspecies interaction between organisms; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; protein catabolic process; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; apoptotic process; regulation of cellular amino acid metabolic process; ubiquitin-dependent protein catabolic process; ATP catabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, T | 7q22.1-q22.3 |
| PSMC3 | gene expression; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; interspecies interaction between organisms; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; protein catabolic process; mRNA metabolic process; RNA metabolic process; viral reproduction; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; regulation of cellular amino acid metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen v | 11p11.2 |
| PSMC3IP | positive regulation of transcription from RNA polymerase II promoter; meiosis; DNA recombination | 17q21.2 |
| PSMC4 | cell cycle checkpoint; S phase of mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; protein catabolic process; mRNA metabolic process; RNA metabolic process; viral reproduction; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; G1/S transition of mitotic cell cycle; protein polyubiquitination; M/G1 transition of mitotic cell cycle; mitotic cell cycle; blastocyst development; antigen processing and presentation of peptide antigen via MHC cl | 19q13.11-q13.13 |
| PSMC5 | antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; protein catabolic process; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; regulation of cellular amino acid metabolic process; transcription from RNA polymerase II promoter; ATP catabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I; mitotic cell cycle; M/G1 transition of mitotic cell cycle; protein polyubiquitination; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint; negative regulation of programmed cell death; proteasomal ubiquitin-dependent protein catabolic process | 17q23.3 |
| PSMC6 | gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; protein catabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; small molecule metabolic process; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; apoptotic process; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein polyubiquitination; M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; ATP catabolic process; ubiquitin-dependent protein catabolic process | 14q22.1 |
| PSMC6P1 | - | 8q12.1 |
| PSMD1 | gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; regulation of cellular amino acid metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I; mitotic cell cycle; M/G1 transition of mitotic cell cycle; protein polyubiquitination; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint; RNA metabolic process; viral reproduction; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of protein catabolic process; | 2q37.1 |
| PSMD10 | mRNA metabolic process; cell cycle checkpoint; RNA metabolic process; viral reproduction; gene expression; cytoplasmic sequestering of NF-kappaB; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; regulation of cellular amino acid metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I; mitotic cell cycle; M/G1 transition of mitotic cell cycle; protein polyubiquitination; negative regulation of transcription from RNA polymerase II promoter; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; negative regulation of MAPK cascade; negative regulation of release of cytochrome c from mitochondria; proteasome regulatory particle assembly; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; ne | Xq22.3 |
| PSMD10P1 | - | 20q13.13 |
| PSMD10P3 | - | 13q21 |
| PSMD11 | apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; regulation of apoptotic process; regulation of cellular amino acid metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I; mitotic cell cycle; M/G1 transition of mitotic cell cycle; protein polyubiquitination; S phase of mitotic cell cycle; small molecule metabolic process; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubi | 17q11.2 |
| PSMD12 | antigen processing and presentation of peptide antigen via MHC class I; regulation of cellular amino acid metabolic process; mitotic cell cycle; M/G1 transition of mitotic cell cycle; protein polyubiquitination; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; small molecule metabolic process; regulation of apoptotic process; cell cycle checkpoint; RNA metabolic process; viral reproduction; gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cel | 17q24.2 |
| PSMD12P | - | 3p14 |
| PSMD13 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; gene expression; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mRNA metabolic process; RNA metabolic process; viral reproduction; meiosis I; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; regulation of cellular amino acid metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I; mitotic cell cycle; M/G1 transition of mitot | 11p15.5 |
| PSMD14 | viral reproduction; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; proteolysis; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; ubiquitin-dependent protein catabolic process; regulation of cellular amino acid metabolic process; apoptotic process; small molecule metabolic process; regulation of proteasomal protein catabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; positive regulation of endopeptidase activity; mRNA metabolic process; RNA metabolic process; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein polyubiquitination; M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation of pepti | 2q24.2 |
| PSMD2 | mRNA metabolic process; cell cycle checkpoint; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of protein catabolic process; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; RNA metabolic process; viral reproduction; gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; regulation of cellular amino acid metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC | 3q27.1 |
| PSMD3 | M/G1 transition of mitotic cell cycle; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein polyubiquitination; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; RNA metabolic process; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic process; regulation of protein catabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; small molecule metabolic process; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; viral reproduction; gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; regulation of cellular amino acid metabolic process; antigen processing and | 17q21.1 |
| PSMD4 | viral reproduction; gene expression; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein polyubiquitination; M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; regulation of cellular amino acid metabolic process; RNA metabolic process; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; small molecule metabolic process; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein lig | 1q21.3 |
| PSMD4P1 | - | 21q22.13 |
| PSMD5 | viral reproduction; RNA metabolic process; proteasome regulatory particle assembly; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mRNA metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; gene expression; apoptotic process; regulation of cellular amino acid metabolic process; antigen processing and presentation of peptide antigen via MHC class I; mitotic cell cycle; M/G1 transition of mitotic cell cycle; protein polyubiquitination; S phase of mitotic cel | 9q33.2 |
| PSMD5-AS1 | - | 9q33.2 |
| PSMD6 | S phase of mitotic cell cycle; RNA metabolic process; viral reproduction; gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; antigen processing and presentation of exogenous peptide antigen via MHC class I; apoptotic process; cell cycle checkpoint; G1/S transition of mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; mRNA metabolic process; protein polyubiquitination; M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; ATP catabolic process; proteolysis; regulation of cellular amino acid metabolic process; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; small molecule metabolic process; regulation of | 3p14.1 |
| PSMD6-AS2 | - | 3p14 |
| PSMD7 | antigen processing and presentation of peptide antigen via MHC class I; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein polyubiquitination; M/G1 transition of mitotic cell cycle; mitotic cell cycle; regulation of cellular amino acid metabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle | 16q22.3 |
| PSMD8 | S phase of mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; G1/S transition of mitotic cell cycle; protein polyubiquitination; M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; proteolysis; regulation of cellular amino acid metabolic process; apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; small molecule metabolic process; negative regulation of ubiquitin-protein ligase activity involv | 19q13.2 |
| PSMD9 | mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein polyubiquitination; M/G1 transition of mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; ubiquitin-dependent protein catabolic process; regulation of cellular amino acid metabolic process; apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of insulin secretion; cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process | 12q24.31-q24.32 |
| PSME1 | mitotic cell cycle; M/G1 transition of mitotic cell cycle; protein polyubiquitination; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint; antigen processing and presentation of peptide antigen via MHC class I; regulation of cellular amino acid metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; small molecule metabolic process; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycl | 14q11.2 |
| PSME2 | viral reproduction; RNA metabolic process; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; small molecule metabolic process; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein polyubiquitination; M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation | 14q11.2 |
| PSME2P1 | - | 5q21 |
| PSME2P2 | - | 13q13 |
| PSME3 | cellular nitrogen compound metabolic process; small molecule metabolic process; protein polyubiquitination; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; regulation of cellular amino acid metabolic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; positive regulation of endopeptidase activity; viral reproduction; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic ce | 17q21 |
| PSME4 | antigen processing and presentation of exogenous peptide antigen via MHC class I; antigen processing and presentation of peptide antigen via MHC class I; mitotic cell cycle; cellular nitrogen compound metabolic process; regulation of apoptotic process; small molecule metabolic process; M/G1 transition of mitotic cell cycle; protein polyubiquitination; S phase of mitotic cell cycle; cell cycle checkpoint; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of cellular amino acid metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell differentiation; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; spermatogenesis; multicellular organismal development; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; antigen processing and | 2p16.2 |
| PSMF1 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; ubiquitin-dependent protein catabolic process; regulation of cellular amino acid metabolic process; apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; negative regulation of endopeptidase activity; viral reproduction; RNA metabolic process; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic process; mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoin | 20p13 |
| PSMG1 | proteasome assembly | 21q22.3 |
| PSMG2 | regulation of cell cycle; mitotic cell cycle spindle assembly checkpoint; regulation of apoptotic process; proteasome assembly | 18p11.21 |
| PSMG3 | - | 7p22.3 |
| PSMG3-AS1 | - | 7p22.3 |
| PSMG4 | - | 6p25.2 |
| PSORS1C1 | - | 6p21.3 |
| PSORS1C2 | - | 6p21.3 |
| PSORS1C3 | - | 6p21.33 |
| PSPC1 | regulation of transcription, DNA-dependent | 13q12.11 |
| PSPC1P1 | - | 13q12.11 |
| PSPH | L-serine metabolic process; L-serine biosynthetic process; cellular amino acid biosynthetic process; response to mechanical stimulus; response to nutrient levels; response to testosterone stimulus; cellular nitrogen compound metabolic process; small molecule metabolic process | 7p11.2 |
| PSPHP1 | cell proliferation | 7q11.2 |
| PSPN | nervous system development; axon guidance; central nervous system development; branching involved in ureteric bud morphogenesis | 19p13.3 |
| PSRC1 | cell division; positive regulation of transcription, DNA-dependent; positive regulation of microtubule polymerization; regulation of mitotic spindle organization; mitosis; microtubule bundle formation; negative regulation of cell growth; cell cycle; mitotic metaphase plate congression | 1p13.3 |
| PSTK | selenocysteine incorporation; translation | 10q26.13 |
| PSTPIP1 | innate immune response; cell adhesion; signal transduction; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway | 15q24-q25.1 |
| PSTPIP2 | - | 18q12 |
| PTAFR | G-protein coupled receptor signaling pathway; interferon-gamma-mediated signaling pathway; phosphatidylinositol-mediated signaling; inositol trisphosphate biosynthetic process; response to lipopolysaccharide; cytokine-mediated signaling pathway; immune response; inflammatory response; chemotaxis; pattern recognition receptor signaling pathway; cytokine production | 1p35-p34.3 |
| PTAR1 | protein prenylation | 9q21.12 |
| PTBP1 | negative regulation of muscle cell differentiation; negative regulation of nuclear mRNA splicing, via spliceosome; negative regulation of RNA splicing; gene expression; mRNA processing; nuclear mRNA splicing, via spliceosome; regulation of alternative nuclear mRNA splicing, via spliceosome; alternative nuclear mRNA splicing, via spliceosome; RNA splicing | 19p13.3 |
| PTBP1P | - | 14q23.3 |
| PTBP2 | negative regulation of RNA splicing; mRNA processing; mRNA splice site selection | 1p21.3 |
| PTBP3 | negative regulation of RNA splicing; anatomical structure morphogenesis; mRNA processing; cell differentiation; erythrocyte maturation | 9q32 |
| PTCD2 | mitochondrion organization; liver development; kidney development; heart development; muscle fiber development; regulation of mRNA processing; ventricular cardiac muscle tissue morphogenesis | 5q13.2 |
| PTCD3 | - | 2p11.2 |
| PTCH1 | embryonic limb morphogenesis; neural plate axis specification; dorsal/ventral neural tube patterning; neural tube patterning; protein processing; positive regulation of cholesterol efflux; response to chlorate; dorsal/ventral pattern formation; organ morphogenesis; regulation of smoothened signaling pathway; epidermis development; brain development; pattern specification process; regulation of mitotic cell cycle; smoothened signaling pathway; signal transduction; heart morphogenesis; neural tube closure; neural tube formation; branching involved in ureteric bud morphogenesis; negative regulation of transcription from RNA polymerase II promoter; mammary gland development; regulation of protein localization; hindlimb morphogenesis; limb morphogenesis; protein targeting to plasma membrane; cell proliferation involved in metanephros development; renal system development; cellular response to cholesterol; somite development; cell differentiation involved in kidney development; mammary gland epithelial cell differe | 9q22.3 |
| PTCH2 | skin development; negative regulation of smoothened signaling pathway; hair cycle | 1p34.1 |
| PTCHD1 | cognition; smoothened signaling pathway | Xp22.11 |
| PTCHD1-AS | - | Xp22.11 |
| PTCHD2 | cholesterol homeostasis; regulation of lipid transport; smoothened signaling pathway | 1p36.22 |
| PTCHD3 | spermatid development | 10p12.1 |
| PTCHD3P1 | - | 10p11.23 |
| PTCHD4 | - | 6p12.3 |
| PTCRA | negative regulation of thymocyte apoptosis | 6p21.3 |
| PTCSC1 | - | 8q24 |
| PTCSC3 | - | 14q13.3 |
| PTDSS1 | phosphatidylserine biosynthetic process; phospholipid biosynthetic process | 8q22 |
| PTDSS2 | phospholipid biosynthetic process; phosphatidylserine biosynthetic process | 11p15.5 |
| PTEN | positive regulation of cell proliferation; negative regulation of cell proliferation; fibroblast growth factor receptor signaling pathway; regulation of neuron projection development; cell migration; negative regulation of cell migration; regulation of protein stability; negative regulation of cyclin-dependent protein kinase activity involved in G1/S; regulation of myeloid cell apoptosis; peptidyl-tyrosine dephosphorylation; negative regulation of apoptotic process; protein kinase B signaling cascade; cell proliferation; heart development; central nervous system development; epidermal growth factor receptor signaling pathway; activation of mitotic anaphase-promoting complex activity; induction of apoptosis; lipid metabolic process; protein dephosphorylation; regulation of B cell apoptosis; negative regulation of protein phosphorylation; angiogenesis; regulation of cyclin-dependent protein kinase activity; inositol phosphate dephosphorylation; endothelial cell migration; negative regulation of G1/S transition | 10q23.3 |
| PTENP1 | - | 9p21 |
| PTENP1-AS | - | - |
| PTER | catabolic process | 10p12 |
| PTF1A | tissue development; neuron fate commitment; hindbrain development; exocrine pancreas development; endocrine pancreas development; positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; retinoic acid receptor signaling pathway; generation of neurons; retina morphogenesis in camera-type eye; embryo development | 10p12.2 |
| PTGDR | G-protein coupled receptor signaling pathway; male sex determination; sleep; adenosine metabolic process; cellular response to prostaglandin D stimulus | 14q22.1 |
| PTGDR2 | immune response; chemotaxis; G-protein coupled receptor signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; calcium-mediated signaling; positive regulation of G-protein coupled receptor protein signaling pathway | 11q12-q13.3 |
| PTGDS | prostaglandin biosynthetic process; response to glucocorticoid stimulus; regulation of circadian sleep/wake cycle, sleep; fatty acid biosynthetic process; transport | 9q34.2-q34.3 |
| PTGER1 | G-protein coupled receptor signaling pathway | 19p13.1 |
| PTGER2 | G-protein coupled receptor signaling pathway; regulation of cell proliferation | 14q22 |
| PTGER3 | transcription, DNA-dependent; G-protein coupled receptor signaling pathway; cell death; intracellular receptor mediated signaling pathway; positive regulation of fever generation | 1p31.2 |
| PTGER4 | negative regulation of inflammatory response; positive regulation of cytokine secretion; negative regulation of cytokine secretion; T-helper cell differentiation; negative regulation of integrin activation; regulation of ossification; response to mechanical stimulus; JNK cascade; G-protein signaling, coupled to cAMP nucleotide second messenger; immune response; regulation of stress fiber assembly; bone development; ERK1 and ERK2 cascade; cellular response to mechanical stimulus; negative regulation of eosinophil extravasation; positive regulation of inflammatory response | 5p13.1 |
| PTGER4P2-CDK2AP2P2 | - | 9q13 |
| PTGES | prostaglandin metabolic process; prostaglandin biosynthetic process; fatty acid biosynthetic process; signal transduction; negative regulation of cell proliferation | 9q34.3 |
| PTGES2 | fatty acid biosynthetic process; prostaglandin biosynthetic process; cell redox homeostasis; positive regulation of transcription, DNA-dependent; secretion | 9q34.11 |
| PTGES3 | telomere maintenance; small molecule metabolic process; skin development; glucocorticoid receptor signaling pathway; cell proliferation; signal transduction; prostanoid metabolic process; fatty acid biosynthetic process; chaperone cofactor-dependent protein refolding; glycogen biosynthetic process; prostaglandin biosynthetic process; lung saccule development | 12q13.3|12 |
| PTGES3L | - | 17q |
| PTGES3P1 | - | 1p22.2 |
| PTGES3P3 | - | 4q33 |
| PTGFR | G-protein coupled receptor signaling pathway; parturition | 1p31.1 |
| PTGFRN | lipid particle organization | 1p13.1 |
| PTGIR | G-protein signaling, coupled to cyclic nucleotide second messenger; cell-cell signaling; blood coagulation | 19q13.3 |
| PTGIS | icosanoid metabolic process; cellular response to interleukin-6; cellular response to interleukin-1; oxidation-reduction process; small molecule metabolic process; xenobiotic metabolic process; prostanoid metabolic process; fatty acid biosynthetic process; lipid metabolic process; prostaglandin biosynthetic process | 20q13.13 |
| PTGR1 | leukotriene metabolic process; response to toxin | 9q31.3 |
| PTGR2 | prostaglandin metabolic process | 14q24.3 |
| PTGS1 | prostaglandin biosynthetic process; response to corticosterone stimulus; positive regulation of smooth muscle contraction; positive regulation of vasoconstriction; small molecule metabolic process; regulation of cell proliferation; negative regulation of epinephrine secretion; cyclooxygenase pathway; negative regulation of norepinephrine secretion; response to organic nitrogen; regulation of blood pressure; aging; response to oxidative stress; xenobiotic metabolic process; prostanoid metabolic process; fatty acid biosynthetic process; lipid metabolic process | 9q32-q33.3 |
| PTGS2 | prostaglandin biosynthetic process; fatty acid biosynthetic process; prostanoid metabolic process; prostaglandin metabolic process; xenobiotic metabolic process; cellular component movement; response to glucocorticoid stimulus; positive regulation of platelet-derived growth factor production; positive regulation of brown fat cell differentiation; positive regulation of fibroblast growth factor production; positive regulation of cell migration involved in sprouting angiogenesis; positive regulation of transforming growth factor beta production; oxidation-reduction process; positive regulation of synaptic transmission, glutamatergic; negative regulation of calcium ion transport; regulation of cell cycle; response to oxidative stress; response to drug; regulation of inflammatory response; positive regulation of smooth muscle cell proliferation; decidualization; positive regulation of smooth muscle contraction; positive regulation of vasoconstriction; positive regulation of nitric oxide biosynthetic process; smal | 1q25.2-q25.3 |
| PTH1R | skeletal system development; chondrocyte differentiation; osteoblast development; cellular calcium ion homeostasis; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor signaling pathway; cell maturation; bone resorption; bone mineralization; negative regulation of cell proliferation; positive regulation of cell proliferation; elevation of cytosolic calcium ion concentration; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; activation of adenylate cyclase activity by G-protein signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; aging | 3p22-p21.1 |
| PTH2 | neuropeptide signaling pathway | 19q13.33 |
| PTH2R | G-protein coupled receptor signaling pathway | 2q33 |
| PTHLH | protein processing; regulation of gene expression; epidermis development; negative regulation of cell proliferation; positive regulation of cell proliferation; female pregnancy; endoderm development; cell-cell signaling; activation of adenylate cyclase activity by G-protein signaling pathway; osteoblast development; endochondral ossification; skeletal system development; lung alveolus development; positive regulation of cAMP biosynthetic process; epithelial cell differentiation; negative regulation of chondrocyte differentiation; surfactant homeostasis; negative regulation of sequence-specific DNA binding transcription factor activity; cAMP metabolic process; mammary gland bud elongation; nipple sheath formation | 12p12.1-p11.2 |
| PTK2 | negative regulation of apoptotic process; netrin-activated signaling pathway; establishment of nucleus localization; regulation of cell proliferation; regulation of cell adhesion mediated by integrin; axon guidance; microtubule cytoskeleton organization; angiogenesis; blood vessel development; vasculogenesis; neuron migration; placenta development; positive regulation of protein phosphorylation; heart morphogenesis; protein phosphorylation; apoptotic process; cellular component disassembly involved in apoptosis; signal complex assembly; integrin-mediated signaling pathway; regulation of Rho GTPase activity; blood coagulation; positive regulation of cell proliferation; regulation of cell shape; embryo development; regulation of endothelial cell migration; positive regulation of phosphatidylinositol 3-kinase cascade; peptidyl-tyrosine phosphorylation; central nervous system neuron axonogenesis; establishment of cell polarity; platelet activation; extracellular matrix organization; positive regulation of cell mi | 8q24.3 |
| PTK2B | focal adhesion assembly; regulation of cell shape; positive regulation of cell growth; regulation of cell adhesion; cell differentiation; peptidyl-tyrosine phosphorylation; glial cell proliferation; positive regulation of neuron projection development; regulation of macrophage chemotaxis; response to organic nitrogen; response to lithium ion; response to glucose stimulus; response to hormone stimulus; response to mechanical stimulus; positive regulation of cell migration; negative regulation of cell proliferation; positive regulation of cell proliferation; integrin-mediated signaling pathway; elevation of cytosolic calcium ion concentration; epidermal growth factor receptor signaling pathway; signal complex assembly; signal transduction; actin filament organization; response to osmotic stress; response to stress; apoptotic process; protein phosphorylation; positive regulation of JUN kinase activity; positive regulation of peptidyl-tyrosine phosphorylation; vascular endothelial growth factor receptor signaling | 8p21.1 |
| PTK6 | positive regulation of neuron projection development; cellular response to retinoic acid; negative regulation of protein tyrosine kinase activity; protein autophosphorylation; tyrosine phosphorylation of Stat5 protein; tyrosine phosphorylation of Stat3 protein; cell migration; protein phosphorylation | 20q13.3 |
| PTK7 | establishment of planar polarity; planar cell polarity pathway involved in neural tube closure; cochlea morphogenesis; cellular response to retinoic acid; lung-associated mesenchyme development; canonical Wnt receptor signaling pathway; convergent extension; establishment of epithelial cell apical/basal polarity; wound healing; actin cytoskeleton reorganization; cell migration; positive regulation of neuron projection development; signal transduction; cell adhesion; axis elongation; neural tube closure | 6p21.1-p12.2 |
| PTMA | transcription, DNA-dependent | 2q37.1 |
| PTMAP2 | - | 5q23.1 |
| PTMAP3 | - | 20p11.23 |
| PTMAP4 | - | 12p13.31 |
| PTMAP5 | - | 13q31.1 |
| PTMAP8 | - | 3q13.31 |
| PTMS | DNA replication | 12p13 |
| PTN | positive regulation of cell division; bone mineralization; positive regulation of cell proliferation; learning; nervous system development; transmembrane receptor protein tyrosine phosphatase signaling pathway | 7q33 |
| PTOV1 | regulation of transcription, DNA-dependent | 19q13.33 |
| PTOV1-AS1 | - | - |
| PTP4A1 | peptidyl-tyrosine dephosphorylation; positive regulation of cell migration; multicellular organismal development; cell cycle | 6q12 |
| PTP4A1P2 | - | 12q24 |
| PTP4A1P3 | - | 7q21.13 |
| PTP4A1P6 | - | 11q14.2 |
| PTP4A2 | - | 1p35 |
| PTP4A2P2 | - | 11q24-q25 |
| PTP4A3 | - | 8q24.3 |
| PTPDC1 | - | 9q22.32 |
| PTPMT1 | inositol phosphate dephosphorylation; protein dephosphorylation | 11p11.2 |
| PTPN1 | JAK-STAT cascade involved in growth hormone signaling pathway; regulation of type I interferon-mediated signaling pathway; type I interferon-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway; blood coagulation; interferon-gamma-mediated signaling pathway; negative regulation of insulin receptor signaling pathway; peptidyl-tyrosine dephosphorylation; actin cytoskeleton reorganization; platelet activation; regulation of endocytosis; cytokine-mediated signaling pathway; regulation of signal transduction | 20q13.1-q13.2 |
| PTPN11 | epidermal growth factor receptor signaling pathway; interferon-gamma-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway; leukocyte migration; blood coagulation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; cytokine-mediated signaling pathway; type I interferon-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; ephrin receptor signaling pathway; peptidyl-tyrosine dephosphorylation; axon guidance; T cell costimulation; regulation of cell adhesion mediated by integrin | 12q24 |
| PTPN12 | protein dephosphorylation | 7q11.23 |
| PTPN13 | protein dephosphorylation; peptidyl-tyrosine dephosphorylation | 4q21.3 |
| PTPN14 | peptidyl-tyrosine dephosphorylation; protein dephosphorylation; lymphangiogenesis | 1q32.2 |
| PTPN18 | protein dephosphorylation | 2q21.1 |
| PTPN2 | protein dephosphorylation; insulin receptor signaling pathway; cytokine-mediated signaling pathway; peptidyl-tyrosine dephosphorylation; interferon-gamma-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway | 18p11.3-p11.2 |
| PTPN20 | - | 10q11.22 |
| PTPN21 | protein dephosphorylation; peptidyl-tyrosine dephosphorylation | 14q31.3 |
| PTPN22 | regulation of B cell receptor signaling pathway; protein dephosphorylation; negative regulation of T cell activation; negative regulation of T cell receptor signaling pathway; regulation of innate immune response; T cell differentiation; regulation of natural killer cell proliferation; peptidyl-tyrosine dephosphorylation; phosphoanandamide dephosphorylation | 1p13.2 |
| PTPN23 | cell projection organization; cilium morphogenesis | 3p21.3 |
| PTPN2P1 | - | 1q25.2 |
| PTPN3 | negative regulation of membrane protein ectodomain proteolysis; peptidyl-tyrosine dephosphorylation; negative regulation of mitotic cell cycle; protein dephosphorylation | 9q31 |
| PTPN4 | protein dephosphorylation | 2q14.2 |
| PTPN5 | protein dephosphorylation; peptidyl-tyrosine dephosphorylation | 11p15.1 |
| PTPN6 | negative regulation of peptidyl-tyrosine phosphorylation; regulation of G1/S transition of mitotic cell cycle; regulation of ERK1 and ERK2 cascade; JAK-STAT cascade involved in growth hormone signaling pathway; regulation of type I interferon-mediated signaling pathway; type I interferon-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway; interferon-gamma-mediated signaling pathway; leukocyte migration; peptidyl-tyrosine dephosphorylation; T cell costimulation; cytokine-mediated signaling pathway; protein dephosphorylation; apoptotic process; G-protein coupled receptor signaling pathway; blood coagulation; cell proliferation; positive regulation of cell proliferation; positive regulation of phosphatidylinositol 3-kinase cascade; peptidyl-tyrosine phosphorylation; cell differentiation | 12p13 |
| PTPN7 | protein dephosphorylation; peptidyl-tyrosine dephosphorylation | 1q32.1 |
| PTPN9 | protein dephosphorylation; peptidyl-tyrosine dephosphorylation | 15q24.2 |
| PTPRA | peptidyl-tyrosine dephosphorylation; insulin receptor signaling pathway; axon guidance; protein phosphorylation | 20p13 |
| PTPRB | dephosphorylation; phosphate-containing compound metabolic process; protein dephosphorylation; angiogenesis | 12q15-q21 |
| PTPRC | protein dephosphorylation; negative regulation of protein kinase activity; immunoglobulin biosynthetic process; positive regulation of protein kinase activity; positive regulation of stem cell proliferation; positive regulation of hematopoietic stem cell migration; regulation of cell cycle; defense response to virus; release of sequestered calcium ion into cytosol; positive regulation of antigen receptor-mediated signaling pathway; B cell receptor signaling pathway; T cell receptor signaling pathway; stem cell development; bone marrow development; negative regulation of cell adhesion involved in substrate-bound cell migration; positive regulation of T cell proliferation; B cell proliferation; peptidyl-tyrosine dephosphorylation; regulation of S phase; positive regulation of B cell proliferation; T cell differentiation; dephosphorylation; axon guidance; cell surface receptor signaling pathway; negative regulation of cytokine-mediated signaling pathway; negative regulation of T cell mediated cytotoxicity; hemop | 1q31-q32 |
| PTPRCAP | defense response | 11q13.3 |
| PTPRD | transmembrane receptor protein tyrosine phosphatase signaling pathway; phosphate-containing compound metabolic process; protein dephosphorylation | 9p23-p24.3 |
| PTPRD-AS1 | - | 9p24.1 |
| PTPRE | protein phosphorylation; protein dephosphorylation; transmembrane receptor protein tyrosine phosphatase signaling pathway; regulation of mast cell activation; negative regulation of insulin receptor signaling pathway | 10q26 |
| PTPRF | negative regulation of nerve growth factor receptor signaling pathway; negative regulation of cytokine-mediated signaling pathway; cell adhesion; homophilic cell adhesion; transmembrane receptor protein tyrosine phosphatase signaling pathway; positive regulation of dendrite morphogenesis; regulation of synapse structure and activity; nervous system development; negative regulation of cell proliferation; negative regulation of cell projection organization; peptidyl-tyrosine dephosphorylation; negative regulation of epidermal growth factor receptor signaling pathway; positive regulation of neuron apoptosis; negative regulation of insulin receptor signaling pathway | 1p34 |
| PTPRG | transmembrane receptor protein tyrosine kinase signaling pathway; peptidyl-tyrosine dephosphorylation | 3p21-p14 |
| PTPRG-AS1 | - | - |
| PTPRH | protein dephosphorylation; apoptotic process | 19q13.4 |
| PTPRJ | vasculogenesis; positive regulation of focal adhesion assembly; positive chemotaxis; negative regulation of T cell receptor signaling pathway; platelet-derived growth factor receptor signaling pathway; positive regulation of survival gene product expression; positive regulation of cell adhesion; positive regulation of protein kinase B signaling cascade; negative regulation of vascular permeability; negative regulation of epidermal growth factor receptor signaling pathway; peptidyl-tyrosine dephosphorylation; contact inhibition; positive regulation of cell-matrix adhesion; heart development; negative regulation of cell migration; negative regulation of cell growth; regulation of cell adhesion; positive regulation of macrophage chemotaxis; negative regulation of platelet-derived growth factor receptor signaling pathway; positive regulation of platelet activation; negative regulation of cell proliferation; blood coagulation; negative regulation of protein kinase B signaling cascade; negative regulation of recept | 11p11.2 |
| PTPRK | signal transduction; focal adhesion assembly; negative regulation of transcription, DNA-dependent; negative regulation of cell cycle; peptidyl-tyrosine dephosphorylation; cellular response to UV; cellular response to reactive oxygen species; protein localization at cell surface; negative regulation of cell migration; cell migration; negative regulation of keratinocyte proliferation; negative regulation of cell proliferation; transforming growth factor beta receptor signaling pathway; protein dephosphorylation; cell adhesion | 6q22.2-q22.3 |
| PTPRM | protein dephosphorylation; negative regulation of endothelial cell proliferation; cell adhesion; positive regulation of vasodilation; response to drug; peptidyl-tyrosine dephosphorylation; retinal ganglion cell axon guidance; neuron projection development; negative regulation of angiogenesis; retina layer formation; negative regulation of endothelial cell migration; signal transduction; homophilic cell adhesion | 18p11.2 |
| PTPRN | response to cAMP; response to reactive oxygen species; response to glucose stimulus; cytokine-mediated signaling pathway; response to insulin stimulus; response to estrogen stimulus | 2q35-q36.1 |
| PTPRN2 | negative regulation of GTPase activity; protein dephosphorylation | 7q36 |
| PTPRO | negative regulation of canonical Wnt receptor signaling pathway; negative regulation of retinal ganglion cell axon guidance; glomerular visceral epithelial cell differentiation; slit diaphragm assembly; peptidyl-tyrosine dephosphorylation; glomerulus development; lamellipodium assembly; negative regulation of cell-substrate adhesion; axon guidance; protein dephosphorylation; negative regulation of glomerular filtration; regulation of glomerular filtration; monocyte chemotaxis; cell morphogenesis; negative regulation of neuron projection development | 12p13.3-p13.2|12p13-p12 |
| PTPRQ | inner ear morphogenesis; regulation of fat cell differentiation | 12q21.2 |
| PTPRR | neuron differentiation; peptidyl-tyrosine dephosphorylation; nervous system development; protein dephosphorylation; in utero embryonic development | 12q15 |
| PTPRS | cell adhesion; spinal cord development; cerebellum development; hippocampus development; cerebral cortex development; corpus callosum development | 19p13.3 |
| PTPRT | signal transduction; protein dephosphorylation; cell adhesion; homophilic cell adhesion; transmembrane receptor protein tyrosine kinase signaling pathway; peptidyl-tyrosine dephosphorylation | 20q12-q13 |
| PTPRU | transmembrane receptor protein tyrosine phosphatase signaling pathway; negative regulation of cell proliferation; cell-cell adhesion; cell differentiation; negative regulation of cell migration; protein localization at cell surface; homotypic cell-cell adhesion; protein dephosphorylation; cell adhesion; canonical Wnt receptor signaling pathway; peptidyl-tyrosine dephosphorylation | 1p35.3 |
| PTPRVP | - | 1q32.1 |
| PTPRZ1 | protein dephosphorylation; axonogenesis; central nervous system development | 7q31.3 |
| PTRF | gene expression; transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent; termination of RNA polymerase I transcription | 17q21.2 |
| PTRH1 | - | 9q34.11 |
| PTRH2 | apoptotic process | 17q23.1 |
| PTRHD1 | - | 2p23.3 |
| PTS | cellular amino acid metabolic process; tetrahydrobiopterin biosynthetic process; central nervous system development; small molecule metabolic process; nitric oxide metabolic process; regulation of nitric-oxide synthase activity | 11q22.3 |
| PTTG1 | mitotic cell cycle; DNA repair; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; chromosome segregation; spermatogenesis; chromosome organization; mitosis; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell division | 5q35.1 |
| PTTG1IP | protein import into nucleus | 21q22.3 |
| PTTG3P | chromosome organization; DNA metabolic process | 8q13.1 |
| PTTG4P | - | 14q24.2 |
| PTX3 | positive regulation of nitric oxide biosynthetic process; response to yeast; inflammatory response; opsonization; positive regulation of phagocytosis | 3q25 |
| PTX4 | - | 16p13.3 |
| PUDP | nucleotide metabolic process | Xp22.32 |
| PUF60 | regulation of transcription, DNA-dependent; mRNA processing; apoptotic process; RNA splicing | 8q24.3 |
| PUM1 | cellular membrane organization; regulation of translation; post-Golgi vesicle-mediated transport | 1p35.2 |
| PUM2 | regulation of translation | 2p22-p21 |
| PUM3 | - | 9p24.2 |
| PURA | DNA unwinding involved in replication; DNA-dependent DNA replication initiation; nervous system development; positive regulation of cell proliferation; negative regulation of translation; negative regulation of transcription, DNA-dependent | 5q31 |
| PURB | negative regulation of transcription, DNA-dependent; regulation of myeloid cell differentiation | 7p13 |
| PURG | - | 8p11 |
| PUS1 | positive regulation of transcription from RNA polymerase II promoter; tRNA pseudouridine synthesis; metabolic process; tRNA processing | 12q24.33 |
| PUS10 | tRNA processing; pseudouridine synthesis | 2p16.1 |
| PUS3 | tRNA pseudouridine synthesis; tRNA processing | 11q24.2 |
| PUS7 | tRNA processing; pseudouridine synthesis | 7q22.3 |
| PUS7L | pseudouridine synthesis; tRNA processing | 12q12 |
| PUSL1 | pseudouridine synthesis; tRNA processing | 1p36.33 |
| PVALB | - | 22q13.1 |
| PVR | positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; susceptibility to T cell mediated cytotoxicity; regulation of immune response; positive regulation of natural killer cell mediated cytotoxicity; cell-cell junction organization; interspecies interaction between organisms; susceptibility to natural killer cell mediated cytotoxicity; adherens junction organization; cell junction assembly; cell migration; cell-cell adhesion | 19q13.2 |
| PVRIG | - | 7q22.1 |
| PVRL1 | homophilic cell adhesion; cell adhesion; immune response; lens morphogenesis in camera-type eye; retina development in camera-type eye; regulation of synapse assembly; entry of virus into host cell; cell-cell junction organization; adherens junction organization; cell junction assembly; cell-cell adhesion; axon guidance; heterophilic cell-cell adhesion; interspecies interaction between organisms | 11q23.3 |
| PVRL2 | cell junction assembly; adherens junction organization; susceptibility to natural killer cell mediated cytotoxicity; flagellum organization; interspecies interaction between organisms; positive regulation of natural killer cell mediated cytotoxicity; virion attachment, binding of host cell surface coreceptor; regulation of immune response; establishment of mitochondrion localization; adhesion to symbiont; susceptibility to T cell mediated cytotoxicity; cell-cell junction organization; cell part morphogenesis; positive regulation of mast cell activation; acrosome assembly; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; positive regulation of immunoglobulin mediated immune response; cytoskeleton organization; cell adhesion; homophilic cell adhesion; spermatid development; spermatid nucleus differentiation; fertilization; viral envelope fusion with host membrane; sperm mitochondrion organization | 19q13.2 |
| PVRL3 | cell-cell junction organization; lens morphogenesis in camera-type eye; homophilic cell adhesion; fertilization; cell junction assembly; adherens junction organization; retina morphogenesis in camera-type eye | 3q13 |
| PVRL4 | cell adhesion; cell junction assembly; adherens junction organization; interspecies interaction between organisms; cell-cell junction organization | 1q22-q23.2 |
| PVT1 | - | 8q24 |
| PWAR5 | - | 15q11.2 |
| PWP1 | transcription, DNA-dependent | 12q23.3 |
| PWP2 | signal transduction | 21q22.3 |
| PWRN2 | - | 15q11.2 |
| PWRN3 | - | 15q11.2 |
| PWWP2A | - | 5q33.3 |
| PWWP2AP1 | - | 13q31.1 |
| PWWP2B | - | 10q26.3 |
| PXDC1 | cell communication | 6p25.2 |
| PXDN | immune response; response to oxidative stress; oxidation-reduction process; hydrogen peroxide catabolic process; extracellular matrix organization; negative regulation of cytokine-mediated signaling pathway | 2p25 |
| PXDNL | response to oxidative stress; hydrogen peroxide catabolic process; oxidation-reduction process | 8q11.22-q11.23 |
| PXK | protein phosphorylation; inflammatory response; cell communication; negative regulation of ATPase activity; negative regulation of ion transport; regulation of synaptic transmission | 3p14.3 |
| PXMP2 | - | 12q24.33 |
| PXMP4 | - | 20q11.22 |
| PXN | growth hormone receptor signaling pathway; branching morphogenesis of a tube; focal adhesion assembly; muscle contraction; cellular response to reactive oxygen species; cell junction assembly; lamellipodium assembly; peptidyl-tyrosine phosphorylation; epidermal growth factor receptor signaling pathway; signal complex assembly; signal transduction; cell adhesion; cytoskeleton organization; cellular component movement; activation of MAPK activity | 12q24.31 |
| PXN-AS1 | - | - |
| PXYLP1 | - | 3q23 |
| PYCARD | regulation of apoptotic process; proteolysis; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; signal transduction; tumor necrosis factor-mediated signaling pathway; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; innate immune response; positive regulation of interleukin-1 beta secretion; positive regulation of NF-kappaB transcription factor activity | 16p11.2 |
| PYCR1 | cellular nitrogen compound metabolic process; small molecule metabolic process; proline biosynthetic process; cellular response to oxidative stress; cellular amino acid biosynthetic process; response to stress | 17q25.3 |
| PYCR2 | cellular amino acid biosynthetic process; proline biosynthetic process | 1q42.12 |
| PYCRL | proline biosynthetic process; cellular amino acid biosynthetic process | 8q24.3 |
| PYDC1 | tumor necrosis factor-mediated signaling pathway; negative regulation of protein kinase activity; proteolysis; positive regulation of interleukin-1 beta secretion; innate immune response; negative regulation of NF-kappaB transcription factor activity | 16p11.2 |
| PYGB | small molecule metabolic process; glucose metabolic process; glycogen catabolic process; carbohydrate metabolic process | 20p11.21 |
| PYGL | 5-phosphoribose 1-diphosphate biosynthetic process; glucose metabolic process; glycogen catabolic process; glycogen metabolic process; carbohydrate metabolic process; glucose homeostasis; small molecule metabolic process | 14q21-q22 |
| PYGM | small molecule metabolic process; response to hypoxia; carbohydrate metabolic process; glycogen metabolic process; glycogen catabolic process; glucose metabolic process; cellular calcium ion homeostasis; response to cAMP | 11q12-q13.2 |
| PYGO1 | kidney development; post-embryonic development; Wnt receptor signaling pathway | 15q21.1 |
| PYGO2 | palate development; developmental growth; Wnt receptor signaling pathway; post-embryonic development; kidney development; brain development; lens development in camera-type eye; in utero embryonic development | 1q21.3 |
| PYHIN1 | cell cycle | 1q23.1 |
| PYM1 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; positive regulation of translation | 12q13.2 |
| PYROXD1 | - | 12p12.1 |
| PYROXD2 | - | 10q24.2 |
| PYY | eating behavior; negative regulation of response to food; cell proliferation; feeding behavior; digestion; cell-cell signaling; G-protein coupled receptor signaling pathway; cytoskeleton organization; cellular component movement | 17q21.1 |
| PYY2 | - | 17q11 |
| PYY3 | - | Xp11.22 |
| PZP | female pregnancy; negative regulation of endopeptidase activity | 12p13-p12.2 |
| QARS | tRNA aminoacylation for protein translation; glutaminyl-tRNA aminoacylation; gene expression | 3p21.31 |
| QDPR | liver development; cellular amino acid metabolic process; L-phenylalanine catabolic process; tetrahydrobiopterin biosynthetic process; response to aluminum ion; response to lead ion; response to glucagon stimulus; cellular nitrogen compound metabolic process; cellular response to drug; small molecule metabolic process; dihydrobiopterin metabolic process | 4p15.31 |
| QKI | transport; mRNA transport; long-chain fatty acid biosynthetic process; vasculogenesis; mRNA processing; regulation of translation; multicellular organismal development; RNA splicing; positive regulation of gene expression; myelination; muscle cell differentiation | 6q26 |
| QPCT | protein modification process; proteolysis; peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase | 2p22.2 |
| QPCTL | peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase; proteolysis | 19q13.32 |
| QPRT | small molecule metabolic process; protein oligomerization; quinolinate catabolic process; NAD metabolic process; pyridine nucleotide biosynthetic process; vitamin metabolic process; water-soluble vitamin metabolic process; NAD biosynthetic process | 16p11.2 |
| QRFPR | G-protein coupled receptor signaling pathway | 4q27 |
| QRICH1 | - | 3p21.31 |
| QRICH2 | - | 17q25.1 |
| QRSL1 | glutaminyl-tRNAGln biosynthesis via transamidation; mitochondrial translation | 6q21 |
| QRSL1P1 | - | 1q24.2 |
| QRSL1P2 | - | - |
| QSER1 | - | 11p13 |
| QSOX1 | protein thiol-disulfide exchange; cell redox homeostasis | 1q24 |
| QSOX2 | cell redox homeostasis | 9q34.3 |
| QTRT1 | queuosine biosynthetic process; tRNA modification | 19p13.3 |
| QTRT1P1 | - | - |
| QTRTD1 | queuosine biosynthetic process | 3q13.31 |
| R3HCC1 | - | 8p21.3 |
| R3HCC1L | - | 10q24.2 |
| R3HDM1 | - | 2q21.3 |
| R3HDM2 | - | 12q13.3 |
| R3HDM4 | - | 19p13.3 |
| RAB10 | small GTPase mediated signal transduction; protein transport | 2p23.3 |
| RAB11A | plasma membrane to endosome transport; neuron projection development; vesicle-mediated transport; protein transport; protein localization in plasma membrane; small GTPase mediated signal transduction; cell cycle; GTP catabolic process; cytokinesis | 15q22.31 |
| RAB11AP1 | - | 10q23.33 |
| RAB11B | GTP catabolic process; cell cycle; small GTPase mediated signal transduction; protein transport | 19p13.2 |
| RAB11B-AS1 | - | - |
| RAB11FIP1 | protein transport | 8p11.22 |
| RAB11FIP1P1 | - | Xq13.2 |
| RAB11FIP2 | establishment of cell polarity; protein transport | 10q26.11 |
| RAB11FIP3 | cell cycle; vesicle-mediated transport; endocytic recycling; cytokinesis | 16p13.3 |
| RAB11FIP4 | cytokinesis; transport; interspecies interaction between organisms | 17q11.2 |
| RAB11FIP5 | protein transport | 2p13 |
| RAB12 | protein transport; small GTPase mediated signal transduction | 18p11.22 |
| RAB13 | small GTPase mediated signal transduction; vesicle-mediated transport; protein transport; GTP catabolic process; cell adhesion | 1q21.2 |
| RAB14 | regulation of protein localization; intracellular transport; apical protein localization; vesicle-mediated transport; protein transport; embryo development; fibroblast growth factor receptor signaling pathway; body fluid secretion; neurotransmitter secretion; small GTPase mediated signal transduction; Golgi to endosome transport; GTP catabolic process | 9q32-q34.11 |
| RAB15 | protein transport; small GTPase mediated signal transduction | 14q23.3 |
| RAB17 | small GTPase mediated signal transduction; protein transport | 2q37.3 |
| RAB18 | GTP catabolic process; protein transport; brain development; multicellular organismal development; small GTPase mediated signal transduction; endocytosis; regulation of transcription, DNA-dependent; eye development | 10p12.1 |
| RAB19 | small GTPase mediated signal transduction; protein transport | 7q34 |
| RAB1A | GTP catabolic process; small GTPase mediated signal transduction; protein transport; vesicle-mediated transport | 2p14 |
| RAB1B | protein transport; small GTPase mediated signal transduction | 11q12 |
| RAB1C | protein transport; small GTPase mediated signal transduction | 9p13.2 |
| RAB20 | protein transport; small GTPase mediated signal transduction | 13q34 |
| RAB21 | GTP catabolic process; small GTPase mediated signal transduction; protein transport | 12q21.1 |
| RAB22A | GTP catabolic process; endocytosis; endosome organization; small GTPase mediated signal transduction; protein transport | 20q13.32 |
| RAB23 | signal transduction; small GTPase mediated signal transduction; nervous system development; regulation of smoothened signaling pathway; negative regulation of proteolysis; embryonic digit morphogenesis; spinal cord dorsal/ventral patterning; protein transport | 6p11 |
| RAB24 | protein transport; small GTPase mediated signal transduction; autophagy | 5q35.3 |
| RAB25 | small GTPase mediated signal transduction; protein transport; positive regulation of cell proliferation; pseudopodium organization | 1q22 |
| RAB26 | exocrine system development; regulation of exocytosis; protein transport; small GTPase mediated signal transduction | 16p13.3 |
| RAB27A | GTP catabolic process; protein transport; melanocyte differentiation; melanosome localization; melanosome transport; cytotoxic T cell degranulation; natural killer cell degranulation; pigmentation; blood coagulation; small GTPase mediated signal transduction; exocytosis; protein targeting; positive regulation of exocytosis; multivesicular body sorting pathway | 15q15-q21.1 |
| RAB27B | small GTPase mediated signal transduction; GTP catabolic process; protein transport; positive regulation of exocytosis; multivesicular body sorting pathway | 18q21.2 |
| RAB28 | small GTPase mediated signal transduction; GTP catabolic process | 4p15.33 |
| RAB29 | protein transport; small GTPase mediated signal transduction; GTP catabolic process | 1q32 |
| RAB2A | vesicle-mediated transport; protein transport; small GTPase mediated signal transduction; ER to Golgi vesicle-mediated transport; GTP catabolic process | 8q12.1 |
| RAB2B | protein transport; vesicle-mediated transport; small GTPase mediated signal transduction; positive regulation of exocytosis | 14q11.2 |
| RAB30 | GTP catabolic process; protein transport; small GTPase mediated signal transduction | 11q12-q14 |
| RAB30-AS1 | - | - |
| RAB31 | Golgi vesicle transport; protein transport; GTP catabolic process; small GTPase mediated signal transduction | 18p11.3 |
| RAB32 | protein transport; small GTPase mediated signal transduction | 6q24.3 |
| RAB33A | small GTPase mediated signal transduction; GTP catabolic process; protein transport | Xq26.1 |
| RAB33B | protein transport; small GTPase mediated signal transduction | 4q28 |
| RAB34 | endocytosis; small GTPase mediated signal transduction; protein transport | 17q11.2 |
| RAB35 | protein transport; cytokinesis; GTP catabolic process; small GTPase mediated signal transduction; protein localization; endosome transport | 12q24.31 |
| RAB36 | protein transport; small GTPase mediated signal transduction | 22q11.22 |
| RAB37 | protein transport; small GTPase mediated signal transduction | 17q25.1 |
| RAB38 | GTP catabolic process; small GTPase mediated signal transduction; protein transport | 11q14 |
| RAB39A | small GTPase mediated signal transduction; protein transport | 11q22.3 |
| RAB39B | small GTPase mediated signal transduction; protein transport; vesicle-mediated transport; synapse organization | Xq28 |
| RAB3A | lung development; response to electrical stimulus; synaptic vesicle exocytosis; respiratory system process; GTP catabolic process; mitochondrion organization; small GTPase mediated signal transduction; maintenance of presynaptic active zone structure; regulation of synaptic vesicle fusion to presynaptic membrane; regulation of exocytosis; synaptic vesicle maturation; sensory perception of touch; protein transport; glutamate secretion; post-embryonic development; axonogenesis; neuromuscular synaptic transmission; neurotransmitter secretion; synaptic transmission | 19p13.2 |
| RAB3B | GTP catabolic process; small GTPase mediated signal transduction; protein transport; regulation of exocytosis; peptidyl-cysteine methylation | 1p32-p31 |
| RAB3C | small GTPase mediated signal transduction; protein transport; regulation of exocytosis | 5q13 |
| RAB3D | protein transport; regulation of exocytosis; peptidyl-cysteine methylation; GTP catabolic process; small GTPase mediated signal transduction | 19p13.2 |
| RAB3GAP1 | hypothalamus development; face morphogenesis; regulation of GTPase activity; camera-type eye development; positive regulation of Rab GTPase activity; brain development | 2q21.3 |
| RAB3GAP2 | intracellular protein transport; positive regulation of GTPase activity; positive regulation of catalytic activity; regulation of GTPase activity | 1q41 |
| RAB3IL1 | - | 11q12.2 |
| RAB3IP | protein localization to organelle; cilium assembly; protein transport; Golgi to plasma membrane transport | 12q15 |
| RAB40B | protein transport; small GTPase mediated signal transduction | 17q25.3 |
| RAB40C | protein transport; small GTPase mediated signal transduction | 16p13.3 |
| RAB41 | small GTPase mediated signal transduction; protein transport | Xq13.1 |
| RAB42 | small GTPase mediated signal transduction | 1p35.3 |
| RAB43 | protein transport; small GTPase mediated signal transduction | 3q21.3 |
| RAB43P1 | - | 16q11.2 |
| RAB44 | protein transport; small GTPase mediated signal transduction | 6p21.31-p21.2 |
| RAB4B | GTP catabolic process; small GTPase mediated signal transduction; protein transport; vesicle-mediated transport | 19q13.2 |
| RAB5A | blood coagulation; GTP catabolic process; endocytosis; small GTPase mediated signal transduction; nervous system development; regulation of filopodium assembly; protein transport; cell differentiation; positive regulation of exocytosis; receptor internalization involved in canonical Wnt receptor signaling pathway | 3p24-p22 |
| RAB5B | protein transport; small GTPase mediated signal transduction; GTP catabolic process | 12q13 |
| RAB5C | regulation of endocytosis; protein transport; small GTPase mediated signal transduction; endosome organization; GTP catabolic process | 17q21.2 |
| RAB5CP1 | - | - |
| RAB6A | minus-end-directed organelle transport along microtubule; protein localization in Golgi apparatus; peptidyl-cysteine methylation; vesicle-mediated transport; protein transport; small GTPase mediated signal transduction; retrograde vesicle-mediated transport, Golgi to ER; GTP catabolic process; protein targeting to Golgi | 11q13.3 |
| RAB6B | small GTPase mediated signal transduction; protein transport; retrograde vesicle-mediated transport, Golgi to ER; vesicle-mediated transport; GTP catabolic process | 3q22.1 |
| RAB6C | response to drug; protein transport; small GTPase mediated signal transduction; GTP catabolic process | 2q21.1 |
| RAB6C-AS1 | - | 2q21.1 |
| RAB7A | phagosome maturation; early endosome to late endosome transport; protein transport; endosome to lysosome transport; small GTPase mediated signal transduction; epidermal growth factor catabolic process; endocytosis; GTP catabolic process | 3q21.3 |
| RAB7B | small GTPase mediated signal transduction; protein transport; positive regulation of interleukin-6 production; negative regulation of toll-like receptor 4 signaling pathway; negative regulation of toll-like receptor 9 signaling pathway; late endosome to Golgi transport; positive regulation of megakaryocyte differentiation; positive regulation of NF-kappaB transcription factor activity | 1q32 |
| RAB8A | small GTPase mediated signal transduction; protein transport; cilium assembly; Golgi vesicle fusion to target membrane; vesicle docking involved in exocytosis | 19p13.1 |
| RAB8B | positive regulation of cell projection organization; protein transport; small GTPase mediated signal transduction; GTP catabolic process; adherens junction organization; positive regulation of corticotropin secretion | 15q22.2 |
| RAB9A | GTP catabolic process; small GTPase mediated signal transduction; protein transport; positive regulation of exocytosis | Xp22.2 |
| RAB9AP5 | - | Yq11.223 |
| RAB9B | small GTPase mediated signal transduction; Golgi to endosome transport; protein transport | Xq22.1-q22.3 |
| RABAC1 | - | 19q13.2 |
| RABEP1 | endocytosis; apoptotic process; cellular membrane fusion; protein transport | 17p13.2 |
| RABEP2 | protein transport; endocytosis | 16p11.2 |
| RABEPK | vesicle docking involved in exocytosis; receptor-mediated endocytosis | 9q33.3 |
| RABGAP1 | positive regulation of GTPase activity; cell cycle | 9q34.11 |
| RABGAP1L | positive regulation of Rab GTPase activity; regulation of protein localization | 1q24 |
| RABGEF1 | endocytosis; protein transport | 7q11.21 |
| RABGGTA | protein modification process; visual perception; protein geranylgeranylation | 14q11.2 |
| RABGGTB | protein modification process; visual perception | 1p31 |
| RABIF | protein transport; small GTPase mediated signal transduction; cellular membrane fusion | 1q32.1 |
| RABL2A | small GTPase mediated signal transduction; GTP catabolic process | 2q13 |
| RABL2B | small GTPase mediated signal transduction; GTP catabolic process | 22q13.33 |
| RABL3 | small GTPase mediated signal transduction | 3q13.33 |
| RABL6 | - | 9q34.3 |
| RAC1 | ruffle organization; anatomical structure morphogenesis; regulation of hydrogen peroxide metabolic process; positive regulation of lamellipodium assembly; viral reproduction; lamellipodium assembly; actin filament polymerization; platelet activation; regulation of cell migration; T cell costimulation; response to wounding; negative regulation of interleukin-23 production; positive regulation of Rho protein signal transduction; intracellular signal transduction; nerve growth factor receptor signaling pathway; negative regulation of receptor-mediated endocytosis; cell motility; regulation of defense response to virus by virus; regulation of small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; regulation of respiratory burst; localization within membrane; GTP catabolic process; apoptotic process; cellular component movement; inflammatory response; cell adhesion; cell-matrix adhesion; small GTPase mediated signal transduction; axon guidance; blood coagulation | 7p22 |
| RAC1P3 | - | 13q14.11 |
| RAC1P4 | - | Xq26.3 |
| RAC1P5 | - | 4q25 |
| RAC1P7 | - | - |
| RAC1P8 | - | - |
| RAC2 | positive regulation of cell proliferation; GTP catabolic process; signal transduction; small GTPase mediated signal transduction; axon guidance; blood coagulation; regulation of hydrogen peroxide metabolic process; cell projection assembly; actin cytoskeleton organization; platelet activation; bone resorption; regulation of small GTPase mediated signal transduction; regulation of respiratory burst | 22q13.1 |
| RAC3 | GTP catabolic process; small GTPase mediated signal transduction; cell projection assembly; actin cytoskeleton organization; neuron projection development; intracellular signal transduction; neuromuscular process controlling balance; regulation of small GTPase mediated signal transduction | 17q25.3 |
| RACGAP1 | positive regulation of cell cycle cytokinesis; cytokinesis; cytokinesis, actomyosin contractile ring assembly; ion transport; microtubule-based movement; cell cycle; cytokinesis, initiation of separation; small GTPase mediated signal transduction; spermatogenesis; neuroblast proliferation; blood coagulation; sulfate transport; embryo development; cell differentiation; positive regulation of GTPase activity; cell cycle cytokinesis; regulation of small GTPase mediated signal transduction; spindle midzone assembly involved in mitosis; regulation of attachment of spindle microtubules to kinetochore | 12q13.12 |
| RACGAP1P | - | 12q12 |
| RAD1 | meiotic prophase I; cell cycle checkpoint; DNA damage checkpoint; DNA replication; DNA repair; response to DNA damage stimulus; cellular response to ionizing radiation | 5p13.2 |
| RAD17 | negative regulation of DNA replication; cell cycle checkpoint; DNA replication checkpoint; DNA damage checkpoint; DNA replication; DNA repair; mitotic cell cycle checkpoint; regulation of phosphorylation; response to DNA damage stimulus; cell cycle | 5q13 |
| RAD17P1 | - | 7p21 |
| RAD18 | negative regulation of DNA recombination; response to UV; spermatogenesis; DNA repair | 3p25-p24 |
| RAD21 | apoptotic process; protein localization to chromatin; cell division; reciprocal meiotic recombination; mitotic metaphase/anaphase transition; chromosome segregation; regulation of transcription from RNA polymerase II promoter; DNA recombination; double-strand break repair; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 8q24 |
| RAD21L1 | chromosome segregation; meiosis; meiotic prophase I | 20p13 |
| RAD23A | regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of viral genome replication; interspecies interaction between organisms; nucleotide-excision repair | 19p13.2 |
| RAD23B | nucleotide-excision repair, DNA damage recognition; nucleotide-excision repair, DNA damage removal; DNA repair; nucleotide-excision repair; response to DNA damage stimulus; spermatogenesis; regulation of proteasomal ubiquitin-dependent protein catabolic process | 9q31.2 |
| RAD50 | reciprocal meiotic recombination; meiosis; cell cycle; telomere maintenance via telomerase; positive regulation of protein autophosphorylation; DNA recombination; DNA duplex unwinding; positive regulation of kinase activity; double-strand break repair; DNA repair; double-strand break repair via homologous recombination; telomere maintenance; regulation of mitotic recombination | 5q31 |
| RAD51 | mitotic recombination; protein homooligomerization; positive regulation of DNA ligation; reciprocal meiotic recombination; meiosis; DNA recombination; double-strand break repair; DNA repair; DNA unwinding involved in replication; DNA recombinase assembly; double-strand break repair via homologous recombination | 15q15.1 |
| RAD51-AS1 | - | 15q15.1 |
| RAD51AP1 | DNA repair; DNA recombination; double-strand break repair via homologous recombination | 12p13.2-p13.1 |
| RAD51AP2 | - | 2p24.2 |
| RAD51B | DNA repair; DNA recombination; reciprocal meiotic recombination; blood coagulation | 14q23-q24.2 |
| RAD51C | DNA repair; DNA recombination; sister chromatid cohesion; blood coagulation | 17q25.1 |
| RAD51D | DNA recombination; reciprocal meiotic recombination; DNA repair | 17q11 |
| RAD52 | double-strand break repair via homologous recombination; DNA recombinase assembly; DNA repair; double-strand break repair; DNA recombination; mitotic recombination; reciprocal meiotic recombination | 12p13-p12.2 |
| RAD54B | mitotic recombination; DNA repair; double-strand break repair via homologous recombination; reciprocal meiotic recombination; response to ionizing radiation; DNA duplex unwinding; response to drug | 8q22.1 |
| RAD54L | DNA repair; DNA recombination; meiosis; response to ionizing radiation; response to drug; chromosome organization; double-strand break repair via homologous recombination | 1p32 |
| RAD54L2 | - | 3p21.2 |
| RAD9A | positive regulation of apoptotic process; cell cycle checkpoint; DNA replication checkpoint; DNA damage checkpoint; DNA replication; DNA repair; response to DNA damage stimulus; cellular response to ionizing radiation | 11q13.1-q13.2 |
| RAD9B | DNA replication; DNA repair; cell cycle checkpoint | 12q24.11 |
| RADIL | cell adhesion; signal transduction; multicellular organismal development | 7p22.1 |
| RAE1 | carbohydrate metabolic process; mRNA export from nucleus; hexose transport; small molecule metabolic process; regulation of glucose transport; cellular response to organic cyclic compound; glucose transport; viral reproduction; cytokine-mediated signaling pathway; transmembrane transport | 20q13.31 |
| RAET1E | regulation of immune response; antigen processing and presentation; immune response | 6q25.1 |
| RAET1G | immune response; antigen processing and presentation | 6q24.1-q25.1 |
| RAET1K | - | 6q25.1 |
| RAET1L | antigen processing and presentation; immune response | 6q25.1 |
| RAET1M | - | 6q25.1 |
| RAF1 | small GTPase mediated signal transduction; apoptotic process; protein phosphorylation; response to hypoxia; activation of MAPKK activity; epidermal growth factor receptor signaling pathway; cytoskeleton organization; MAPK cascade; signal transduction; regulation of cell motility; nerve growth factor receptor signaling pathway; regulation of cell differentiation; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; regulation of apoptotic process; regulation of Rho protein signal transduction; Ras protein signal transduction; synaptic transmission; axon guidance; heart development; blood coagulation; cell proliferation; negative regulation of cell proliferation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; platelet activation; negative regulation of protein complex assembly; positive regulation of peptidyl-serine phosphorylation; wound healing | 3p25 |
| RAG1 | chromatin modification; negative regulation of thymocyte apoptosis; protein autoubiquitination; V(D)J recombination; pre-B cell allelic exclusion; DNA recombination; immune response; histone monoubiquitination; death; B cell differentiation; T cell differentiation in thymus; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 11p13 |
| RAG2 | V(D)J recombination; positive regulation of organ growth; T cell differentiation in thymus; B cell differentiation; chromatin modification; somatic diversification of immunoglobulins; DNA recombination; T cell lineage commitment; B cell homeostatic proliferation; pre-B cell allelic exclusion; B cell lineage commitment | 11p13 |
| RAI1 | negative regulation of multicellular organism growth; regulation of transcription from RNA polymerase II promoter; skeletal system development | 17p11.2 |
| RAI1-AS1 | - | 17p11.2 |
| RAI14 | - | 5p13.3-p13.2 |
| RAI2 | embryo development | Xp22 |
| RALA | positive regulation of filopodium assembly; membrane raft localization; nerve growth factor receptor signaling pathway; cytokinesis; chemotaxis; cell cycle; signal transduction; Ras protein signal transduction; regulation of exocytosis; actin cytoskeleton reorganization; interspecies interaction between organisms | 7p15-p13 |
| RALB | Ras protein signal transduction; nerve growth factor receptor signaling pathway; small GTPase mediated signal transduction; signal transduction; cell cycle; regulation of exocyst localization; apoptotic process; GTP catabolic process; regulation of exocyst assembly; cytokinesis | 2q14.2 |
| RALBP1 | positive regulation of GTPase activity; regulation of small GTPase mediated signal transduction; ATP catabolic process; transport; chemotaxis; signal transduction; small GTPase mediated signal transduction; positive regulation of Rac GTPase activity; regulation of GTPase activity; positive regulation of Cdc42 GTPase activity | 18p11.3 |
| RALGAPA1 | regulation of small GTPase mediated signal transduction; positive regulation of GTPase activity; activation of Ral GTPase activity | 14q13.2 |
| RALGAPA1P | - | 9q31 |
| RALGAPA2 | regulation of small GTPase mediated signal transduction; activation of Ral GTPase activity | 20p11.22 |
| RALGAPB | regulation of small GTPase mediated signal transduction; activation of Ral GTPase activity | 20q11.23 |
| RALGDS | small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; Ras protein signal transduction; signal transduction | 9q34.3 |
| RALGPS1 | small GTPase mediated signal transduction; intracellular signal transduction | 9q33.3 |
| RALGPS2 | small GTPase mediated signal transduction | 1q25.2 |
| RALY | RNA splicing; nuclear mRNA splicing, via spliceosome | 20q11.21-q11.23 |
| RALY-AS1 | - | - |
| RALYL | - | 8q21.2 |
| RAMP1 | regulation of G-protein coupled receptor protein signaling pathway; angiogenesis; calcium ion transport; intracellular protein transport; protein transport; positive regulation of cAMP biosynthetic process; receptor internalization; positive regulation of protein glycosylation; protein localization in plasma membrane | 2q36-q37.1 |
| RAMP2 | basement membrane assembly; protein localization in plasma membrane; tight junction assembly; vascular smooth muscle cell development; negative regulation of endothelial cell apoptosis; cellular response to vascular endothelial growth factor stimulus; positive regulation of angiogenesis; angiogenesis; vasculogenesis; sprouting angiogenesis; cAMP biosynthetic process; calcium ion transport; intracellular protein transport; signal transduction; heart development; regulation of blood pressure; regulation of G-protein coupled receptor protein signaling pathway; positive regulation of gene expression; protein transport; receptor internalization; negative regulation of vascular permeability; adherens junction assembly; positive regulation of cAMP biosynthetic process | 17q12-q21.1 |
| RAMP2-AS1 | - | 17q21.31 |
| RAN | mitotic spindle organization; cell division; viral genome transport in host cell; positive regulation of transcription, DNA-dependent; interspecies interaction between organisms; positive regulation of protein binding; androgen receptor signaling pathway; viral infectious cycle; small GTPase mediated signal transduction; signal transduction; mitosis; GTP catabolic process; cell cycle; nucleocytoplasmic transport; DNA metabolic process; RNA export from nucleus; protein export from nucleus; intracellular protein transport; viral reproduction | 12q24.3 |
| RANBP1 | intracellular transport; positive regulation of mitotic centrosome separation; viral reproduction; signal transduction; spindle organization | 22q11.21 |
| RANBP10 | regulation of catalytic activity; microtubule cytoskeleton organization | 16q22.1 |
| RANBP17 | mRNA transport; protein import into nucleus; intracellular protein transport | 5q34 |
| RANBP2 | M phase of mitotic cell cycle; transmembrane transport; mRNA transport; intracellular transport; small molecule metabolic process; cytokine-mediated signaling pathway; protein sumoylation; glucose transport; protein transport; regulation of glucose transport; hexose transport; protein import into nucleus; viral reproduction; protein folding; carbohydrate metabolic process; mitotic cell cycle; mitotic prometaphase | 2q12.3 |
| RANBP20P | - | 14q11.2 |
| RANBP3 | intracellular transport; protein transport | 19p13.3 |
| RANBP3L | intracellular transport | 5p13.2 |
| RANBP6 | protein transport | 9p24.1 |
| RANBP9 | axon guidance; microtubule nucleation; protein complex assembly | 6p23 |
| RANGAP1 | signal transduction; negative regulation of protein export from nucleus; positive regulation of Ran GTPase activity; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 22q13 |
| RANGRF | protein transport | 17p13.1 |
| RANP2 | - | - |
| RANP4 | - | Xq26.3 |
| RANP5 | - | 1p13.3 |
| RANP6 | - | 4q34.1 |
| RANP8 | - | - |
| RAP1A | GTP catabolic process; regulation of insulin secretion; nerve growth factor receptor signaling pathway; small molecule metabolic process; platelet activation; blood coagulation; small GTPase mediated signal transduction; signal transduction; energy reserve metabolic process; activation of MAPKK activity | 1p13.3 |
| RAP1B | GTP catabolic process; regulation of establishment of cell polarity; regulation of insulin secretion; platelet activation; cell proliferation; small molecule metabolic process; blood coagulation; small GTPase mediated signal transduction; signal transduction; energy reserve metabolic process | 12q14 |
| RAP1GAP | GTP catabolic process; signal transduction; regulation of Ras GTPase activity; positive regulation of GTPase activity; regulation of small GTPase mediated signal transduction | 1p36.1-p35 |
| RAP1GAP2 | regulation of small GTPase mediated signal transduction | 17p13.3 |
| RAP1GDS1 | positive regulation of GTPase activity | 4q23-q25 |
| RAP2A | regulation of dendrite morphogenesis; positive regulation of protein autophosphorylation; regulation of JNK cascade; establishment of protein localization; Rap protein signal transduction; GTP catabolic process; signal transduction; small GTPase mediated signal transduction; negative regulation of cell migration; cellular protein localization; actin cytoskeleton reorganization | 13q34 |
| RAP2B | positive regulation of protein autophosphorylation; Rap protein signal transduction; regulation of protein tyrosine kinase activity; negative regulation of cell migration; small GTPase mediated signal transduction; signal transduction | 3q25.2 |
| RAP2C | signal transduction; small GTPase mediated signal transduction; positive regulation of protein autophosphorylation; Rap protein signal transduction; negative regulation of cell migration; regulation of protein tyrosine kinase activity | Xq25 |
| RAP2C-AS1 | - | Xq26.2 |
| RAPGEF1 | activation of MAPKK activity; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction | 9q34.3 |
| RAPGEF2 | MAPK cascade; small GTPase mediated signal transduction; cAMP-mediated signaling; intracellular signal transduction; positive regulation of Rap GTPase activity; regulation of synaptic plasticity; regulation of small GTPase mediated signal transduction | 4q32.1 |
| RAPGEF3 | regulation of catalytic activity; small molecule metabolic process; regulation of insulin secretion; energy reserve metabolic process; regulation of small GTPase mediated signal transduction; regulation of protein phosphorylation; signal transduction; blood coagulation; cell proliferation; platelet activation | 12q13.1 |
| RAPGEF4 | G-protein coupled receptor signaling pathway; regulation of dendrite development; regulation of catalytic activity; regulation of insulin secretion; negative regulation of synaptic transmission; regulation of small GTPase mediated signal transduction; regulation of protein phosphorylation; energy reserve metabolic process; cAMP-mediated signaling; heart development; blood coagulation; positive regulation of smooth muscle cell migration; calcium ion-dependent exocytosis; regulation of exocytosis; small molecule metabolic process; platelet activation | 2q31-q32 |
| RAPGEF5 | small GTPase mediated signal transduction; nervous system development; regulation of small GTPase mediated signal transduction | 7p15.3 |
| RAPGEF6 | regulation of small GTPase mediated signal transduction; regulation of GTPase activity; Ras protein signal transduction; signal transduction | 5q31.1 |
| RAPGEFL1 | small GTPase mediated signal transduction; G-protein coupled receptor signaling pathway; nervous system development | 17q21.1 |
| RAPH1 | signal transduction; cell-matrix adhesion | 2q33 |
| RAPSN | synaptic transmission; synaptic transmission, cholinergic; positive regulation of neuron apoptosis | 11p11.2 |
| RARA | negative regulation of transcription, DNA-dependent; positive regulation of interleukin-4 production; positive regulation of interleukin-13 production; Sertoli cell fate commitment; positive regulation of interleukin-5 production; multicellular organism growth; apoptotic cell clearance; negative regulation of cell differentiation; positive regulation of T-helper 2 cell differentiation; positive regulation of cell cycle; negative regulation of tumor necrosis factor production; negative regulation of interferon-gamma production; response to retinoic acid; response to estradiol stimulus; negative regulation of granulocyte differentiation; intracellular estrogen receptor signaling pathway; gene expression; positive regulation of cell proliferation; spermatogenesis; germ cell development; signal transduction; protein phosphorylation; growth plate cartilage development; ureteric bud development; negative regulation of transcription from RNA polymerase II promoter; ventricular cardiac muscle cell differentiation; po | 17q21 |
| RARA-AS1 | - | 17q21.2 |
| RARB | embryonic digestive tract development; signal transduction; gene expression; retinoic acid receptor signaling pathway | 3p24.2 |
| RARG | negative regulation of transcription from RNA polymerase II promoter; canonical Wnt receptor signaling pathway; retinoic acid receptor signaling pathway; embryonic eye morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of programmed cell death; positive regulation of apoptotic process; embryonic hindlimb morphogenesis; response to retinoic acid; gene expression; regulation of cell size; negative regulation of cell proliferation | 12q13 |
| RARRES1 | negative regulation of cell proliferation | 3q25.32 |
| RARRES2 | brown fat cell differentiation; embryonic digestive tract development; positive regulation of macrophage chemotaxis; retinoid metabolic process; in utero embryonic development | 7q36.1 |
| RARRES3 | phospholipid metabolic process; negative regulation of cell proliferation; lipid catabolic process | 11q23 |
| RARS | tRNA aminoacylation for protein translation; arginyl-tRNA aminoacylation; gene expression | 5q35.1 |
| RARS2 | arginyl-tRNA aminoacylation; gene expression; tRNA aminoacylation for protein translation | 6q16.1 |
| RASA1 | regulation of actin filament polymerization; regulation of RNA metabolic process; regulation of small GTPase mediated signal transduction; negative regulation of Ras protein signal transduction; positive regulation of anti-apoptosis; negative regulation of neuron apoptosis; intracellular signal transduction; positive regulation of Ras GTPase activity; embryo development; regulation of cell shape; signal transduction; negative regulation of cell adhesion; negative regulation of cell-matrix adhesion; vasculogenesis; cytokinesis | 5q13.3 |
| RASA2 | positive regulation of Ras GTPase activity; regulation of small GTPase mediated signal transduction; negative regulation of Ras protein signal transduction; intracellular signal transduction; signal transduction | 3q22-q23 |
| RASA2-IT1 | - | - |
| RASA3 | positive regulation of Ras GTPase activity; signal transduction; regulation of small GTPase mediated signal transduction; negative regulation of Ras protein signal transduction; positive regulation of GTPase activity; intracellular signal transduction | 13q34 |
| RASA3-IT1 | - | - |
| RASA4 | positive regulation of GTPase activity; intracellular signal transduction; positive regulation of Ras GTPase activity; regulation of small GTPase mediated signal transduction; negative regulation of Ras protein signal transduction | 7q22 |
| RASA4CP | - | 7p13 |
| RASAL1 | signal transduction; regulation of small GTPase mediated signal transduction; negative regulation of Ras protein signal transduction; intracellular signal transduction; positive regulation of Ras GTPase activity | 12q23-q24 |
| RASAL2 | regulation of small GTPase mediated signal transduction; negative regulation of Ras protein signal transduction; positive regulation of Ras GTPase activity; signal transduction | 1q24 |
| RASAL2-AS1 | - | - |
| RASAL3 | negative regulation of Ras protein signal transduction; signal transduction; positive regulation of Ras GTPase activity; regulation of small GTPase mediated signal transduction | 19p13.12 |
| RASD1 | signal transduction; G-protein coupled receptor signaling pathway; GTP catabolic process; nitric oxide mediated signal transduction; small GTPase mediated signal transduction; negative regulation of transcription, DNA-dependent | 17p11.2 |
| RASD2 | synaptic transmission, dopaminergic; regulation of cAMP-mediated signaling; positive regulation of protein sumoylation; negative regulation of protein ubiquitination; locomotory behavior; small GTPase mediated signal transduction; signal transduction; positive regulation of protein kinase B signaling cascade; GTP catabolic process | 22q13.1 |
| RASEF | protein transport; small GTPase mediated signal transduction | 9q21.32 |
| RASGEF1A | cell migration; regulation of small GTPase mediated signal transduction | 10q11.21 |
| RASGEF1B | regulation of small GTPase mediated signal transduction | 4q21.21 |
| RASGEF1C | regulation of small GTPase mediated signal transduction | 5q35.3 |
| RASGRF1 | regulation of Rho protein signal transduction; regulation of small GTPase mediated signal transduction; regulation of neuronal synaptic plasticity; regulation of synaptic plasticity; nerve growth factor receptor signaling pathway; positive regulation of Ras protein signal transduction; regulation of Ras protein signal transduction; regulation of Rac protein signal transduction; activation of Rac GTPase activity; positive regulation of Ras GTPase activity; neuron projection development; induction of apoptosis by extracellular signals; cell proliferation; long-term memory; synaptic transmission; small GTPase mediated signal transduction; signal transduction; apoptotic process | 15q24.2 |
| RASGRF2 | nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; synaptic transmission; small GTPase mediated signal transduction; regulation of Rho protein signal transduction; apoptotic process | 5q13 |
| RASGRP1 | platelet activation; regulation of small GTPase mediated signal transduction; signal transduction; Ras protein signal transduction; blood coagulation; cell differentiation | 15q14 |
| RASGRP2 | regulation of small GTPase mediated signal transduction; platelet activation; blood coagulation; signal transduction; regulation of cell growth; Ras protein signal transduction | 11q13 |
| RASGRP3 | positive regulation of Rap GTPase activity; regulation of GTPase activity; Ras protein signal transduction; small GTPase mediated signal transduction; MAPK cascade; regulation of small GTPase mediated signal transduction | 2p25.1-p24.1 |
| RASGRP4 | cell proliferation; transmembrane receptor protein tyrosine kinase signaling pathway; activation of phospholipase C activity; regulation of G-protein coupled receptor protein signaling pathway; response to extracellular stimulus; cell growth; myeloid cell differentiation; positive regulation of Ras protein signal transduction; regulation of small GTPase mediated signal transduction | 19q13.1 |
| RASIP1 | angiogenesis; signal transduction; regulation of Rho GTPase activity; branching morphogenesis of a tube; vasculogenesis | 19q13.33 |
| RASL10A | small GTPase mediated signal transduction; signal transduction; GTP catabolic process | 22q12.2 |
| RASL10B | signal transduction; small GTPase mediated signal transduction | 17q12 |
| RASL11A | positive regulation of transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent; small GTPase mediated signal transduction; signal transduction | 13q12.2 |
| RASL11B | small GTPase mediated signal transduction; signal transduction | 4q12 |
| RASL12 | small GTPase mediated signal transduction; signal transduction | 15q11.2-q22.33 |
| RASSF1 | response to DNA damage stimulus; cell cycle; cell cycle arrest; Ras protein signal transduction; positive regulation of protein ubiquitination; intracellular signal transduction; protein stabilization; negative regulation of cell cycle arrest | 3p21.3 |
| RASSF1-AS1 | - | 3p21.3 |
| RASSF10 | signal transduction | 11p15.2 |
| RASSF2 | cell cycle; signal transduction | 20p13 |
| RASSF3 | signal transduction | 12q14.2 |
| RASSF4 | signal transduction; cell cycle | 10q11.21 |
| RASSF5 | apoptotic process; intracellular signal transduction | 1q32.1 |
| RASSF6 | signal transduction; regulation of apoptotic process | 4q13.3 |
| RASSF7 | regulation of transcription, DNA-dependent; signal transduction | 11p15.5 |
| RASSF8 | signal transduction | 12p12.3 |
| RASSF8-AS1 | - | - |
| RASSF9 | protein targeting; endosome transport; signal transduction | 12q21.31 |
| RAVER1 | - | 19p13.2 |
| RAVER2 | - | 1p31.3 |
| RAX | pattern specification process; brain development; limb development; camera-type eye development; hypothalamus development; visual perception | 18q21.32 |
| RAX2 | response to stimulus; visual perception | 19p13.3 |
| RB1 | interspecies interaction between organisms; myoblast differentiation; positive regulation of macrophage differentiation; negative regulation of S phase of mitotic cell cycle; positive regulation of mitotic metaphase/anaphase transition; negative regulation of smoothened signaling pathway; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; digestive tract development; cell morphogenesis involved in neuron differentiation; negative regulation of epithelial cell proliferation; striated muscle cell differentiation; cell division; G1 phase; neuron apoptosis; regulation of cohesin localization to chromatin; negative regulation of transcription involved in G1/S phase of mitotic cell cycle; regulation of centromere complex assembly; protein localization to chromosome, centromeric region; negative regulation of sequence-specific DNA binding transcription factor activity; cell cycle checkpoint; G | 13q14.2 |
| RB1CC1 | heart development; regulation of autophagy; liver development; positive regulation of protein phosphorylation; autophagic vacuole assembly; regulation of transcription, DNA-dependent; cell cycle; JNK cascade; negative regulation of apoptotic process; positive regulation of cell size | 8q11 |
| RBAK | negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 7p22.1 |
| RBAKDN | - | 7p22.1 |
| RBBP4 | DNA replication; nucleosome assembly; regulation of transcription, DNA-dependent; CenH3-containing nucleosome assembly at centromere; chromatin assembly; chromatin remodeling; negative regulation of cell proliferation; mitotic cell cycle | 1p35.1 |
| RBBP4P1 | - | 5p15.2 |
| RBBP4P2 | - | - |
| RBBP4P3 | - | 6p11.2 |
| RBBP4P4 | - | 6p11.2 |
| RBBP4P5 | - | 14q11.2 |
| RBBP5 | regulation of transcription, DNA-dependent; chromatin modification; response to estrogen stimulus; histone H3-K4 methylation | 1q32 |
| RBBP6 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 16p12.2 |
| RBBP7 | regulation of transcription, DNA-dependent; cellular heat acclimation; CenH3-containing nucleosome assembly at centromere; negative regulation of cell growth; chromatin modification; cell proliferation; multicellular organismal development; nucleosome assembly; DNA replication; negative regulation of transcription from RNA polymerase II promoter | Xp22.2 |
| RBBP8 | DNA double-strand break processing involved in repair via single-strand annealing; meiosis; regulation of transcription from RNA polymerase II promoter; DNA repair; blastocyst hatching; cell cycle checkpoint; G1/S transition of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter | 18q11.2 |
| RBBP8NL | - | 20q13.33 |
| RBBP9 | regulation of cell proliferation | 20p11.2 |
| RBCK1 | T cell receptor signaling pathway; interspecies interaction between organisms; protein polyubiquitination; negative regulation of NF-kappaB transcription factor activity; positive regulation of NF-kappaB transcription factor activity; positive regulation of NF-kappaB import into nucleus; positive regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; proteasomal ubiquitin-dependent protein catabolic process; protein linear polyubiquitination | 20p13 |
| RBFA | rRNA processing | 18q23 |
| RBFADN | - | - |
| RBFOX1 | RNA transport; RNA splicing; mRNA processing | 16p13.3 |
| RBFOX2 | intracellular estrogen receptor signaling pathway; regulation of cell proliferation; negative regulation of transcription, DNA-dependent; RNA metabolic process; regulation of definitive erythrocyte differentiation; RNA splicing; mRNA processing; regulation of alternative nuclear mRNA splicing, via spliceosome | 22q13.1 |
| RBFOX3 | RNA splicing; mRNA processing | 17q25.3 |
| RBKS | D-ribose metabolic process; carbohydrate metabolic process | 2p23.3 |
| RBL1 | negative regulation of transcription from RNA polymerase II promoter; interspecies interaction between organisms; regulation of lipid kinase activity; chromatin modification; regulation of transcription, DNA-dependent; mitotic cell cycle; regulation of cell cycle; G1 phase of mitotic cell cycle | 20q11.2 |
| RBL2 | regulation of cell cycle; chromatin modification; regulation of transcription, DNA-dependent; regulation of lipid kinase activity; mitotic cell cycle; G1 phase of mitotic cell cycle | 16q12.2 |
| RBM10 | RNA splicing; mRNA processing | Xp11.23 |
| RBM11 | - | 21q11 |
| RBM12 | - | 20q11.21 |
| RBM12B | - | 8q22.1 |
| RBM12B-AS1 | - | 8q22.1 |
| RBM14 | intracellular estrogen receptor signaling pathway; glucocorticoid receptor signaling pathway; histone deacetylation; positive regulation of transcription from RNA polymerase II promoter; response to hormone stimulus; regulation of transcription, DNA-dependent; DNA recombination; DNA repair; DNA replication | 11q13.2 |
| RBM14-RBM4 | - | 11q |
| RBM15 | positive regulation of transcription of Notch receptor target; ventricular septum morphogenesis; spleen development; placenta blood vessel development; negative regulation of transcription, DNA-dependent; negative regulation of myeloid cell differentiation; negative regulation of transcription from RNA polymerase II promoter; patterning of blood vessels; interspecies interaction between organisms | 1p13 |
| RBM15B | negative regulation of transcription, DNA-dependent; interspecies interaction between organisms; regulation of alternative nuclear mRNA splicing, via spliceosome; regulation of transcription, DNA-dependent; mRNA processing; RNA splicing; nucleocytoplasmic transport | 3p21.2 |
| RBM17 | RNA splicing; mRNA processing | 10p15.1 |
| RBM18 | - | 9q33.2 |
| RBM19 | positive regulation of embryonic development; multicellular organismal development | 12q24.21 |
| RBM20 | - | 10q25.2 |
| RBM22 | protein import into nucleus, translocation; nuclear mRNA splicing, via spliceosome; positive regulation of RNA splicing; cellular response to stress; nuclear mRNA cis splicing, via spliceosome; positive regulation of intracellular protein transport | 5q33.1 |
| RBM22P2 | - | 13q12 |
| RBM23 | mRNA processing | 14q11.2 |
| RBM24 | cell differentiation; regulation of mRNA stability; regulation of myotube differentiation | 6p22.3 |
| RBM25 | RNA splicing; apoptotic process; regulation of alternative nuclear mRNA splicing, via spliceosome; mRNA processing | 14q24.3 |
| RBM26 | mRNA processing; negative regulation of phosphatase activity | 13q31.1 |
| RBM26-AS1 | - | - |
| RBM27 | mRNA processing | 5q32 |
| RBM28 | RNA splicing; mRNA processing | 7q32.1 |
| RBM3 | RNA processing; regulation of translation; response to cold; production of miRNAs involved in gene silencing by miRNA; positive regulation of translation | Xp11.2 |
| RBM33 | - | 7q36.3 |
| RBM34 | - | 1q42.3 |
| RBM38 | regulation of RNA splicing; negative regulation of cell proliferation; mRNA processing; cell cycle arrest; regulation of myotube differentiation; cell cycle; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; cell differentiation; 3'-UTR-mediated mRNA stabilization | 20q13.31 |
| RBM39 | RNA processing; RNA splicing; regulation of transcription, DNA-dependent; mRNA processing | 20q11.22 |
| RBM4 | regulation of alternative nuclear mRNA splicing, via spliceosome; entrainment of circadian clock by photoperiod; negative regulation of translation involved in gene silencing by miRNA; cellular response to stress; circadian regulation of gene expression; negative regulation of translation in response to stress; gene silencing by RNA; cell differentiation; negative regulation of translation; RNA splicing; mRNA processing; RNA processing; negative regulation of translational initiation; regulation of nucleocytoplasmic transport; positive regulation of muscle cell differentiation; stress-activated MAPK cascade | 11q13 |
| RBM41 | - | Xq22.3 |
| RBM42 | - | 19q13.12 |
| RBM43 | - | 2q23.3 |
| RBM43P1 | - | 3p14.1 |
| RBM44 | - | 2q37.3 |
| RBM45 | cell differentiation; nervous system development; multicellular organismal development | 2q31.2 |
| RBM46 | - | 4q32.1 |
| RBM47 | - | 4p14 |
| RBM48 | - | 7q21.2 |
| RBM4B | RNA splicing; circadian regulation of gene expression; entrainment of circadian clock by photoperiod; circadian rhythm; regulation of translation; mRNA processing | 11q13 |
| RBM5 | regulation of alternative nuclear mRNA splicing, via spliceosome; gene expression; spliceosome assembly; RNA splicing; negative regulation of cell proliferation; positive regulation of apoptotic process; RNA processing; nuclear mRNA splicing, via spliceosome | 3p21.3 |
| RBM6 | RNA processing | 3p21.3 |
| RBM7 | meiosis | 11q23.1-q23.2 |
| RBM8A | termination of RNA polymerase II transcription; mRNA export from nucleus; transcription from RNA polymerase II promoter; mRNA 3'-end processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; regulation of translation; transport; RNA splicing; gene expression; RNA metabolic process; mRNA metabolic process; nuclear mRNA splicing, via spliceosome | 1q21.1 |
| RBM8B | - | 14q23.1 |
| RBMS1 | RNA processing; DNA replication | 2q24.2 |
| RBMS1P1 | - | 12q14.3 |
| RBMS2 | RNA processing | 12q13.3 |
| RBMS2P1 | - | 12q22 |
| RBMS3 | - | 3p24-p23 |
| RBMS3-AS2 | - | - |
| RBMS3-AS3 | - | - |
| RBMX | transcription from RNA polymerase II promoter; positive regulation of nuclear mRNA splicing, via spliceosome; membrane protein ectodomain proteolysis; RNA splicing; gene expression; positive regulation of transcription from RNA polymerase II promoter; negative regulation of nuclear mRNA splicing, via spliceosome; nuclear mRNA splicing, via spliceosome; regulation of alternative nuclear mRNA splicing, via spliceosome; protein homooligomerization; cellular response to interleukin-1 | Xq26.3 |
| RBMX2 | - | Xq26.1 |
| RBMX2P1 | - | 21q11.2 |
| RBMXL1 | mRNA processing; RNA splicing | 1p22.2 |
| RBMXL2 | - | 11p15 |
| RBMXL3 | - | Xq23 |
| RBMXP1 | - | 6p12.3 |
| RBMXP2 | - | 9p21.1 |
| RBMXP3 | - | 11q14.1 |
| RBMXP4 | - | 4q25 |
| RBMY1A1 | - | Yq11.223 |
| RBMY1F | - | Yq11.223 |
| RBMY2EP | - | Yq11.223 |
| RBMY2FP | - | Yq11.223 |
| RBMY2KP | - | Yp11.2 |
| RBMY2QP | - | Yp11.2 |
| RBMY2UP | - | Yq11.223 |
| RBP1 | vitamin A metabolic process; regulation of granulocyte differentiation; response to vitamin A; retinol metabolic process; retinoic acid metabolic process | 3q23 |
| RBP2 | retinoid metabolic process; vitamin A metabolic process; steroid metabolic process; epidermis development; small molecule metabolic process | 3q23 |
| RBP3 | proteolysis; lipid metabolic process; transport; visual perception | 10q11.2 |
| RBP4 | embryonic organ morphogenesis; retinol transport; embryonic skeletal system development; response to ethanol; glucose homeostasis; retinal metabolic process; retinol metabolic process; embryonic retina morphogenesis in camera-type eye; cardiac muscle tissue development; female genitalia morphogenesis; response to stimulus; detection of light stimulus involved in visual perception; positive regulation of immunoglobulin secretion; transmembrane transport; retina development in camera-type eye; negative regulation of cardiac muscle cell proliferation; response to retinoic acid; heart trabecula formation; urinary bladder development; vagina development; uterus development; eye development; gluconeogenesis; spermatogenesis; heart development; male gonad development; embryo development; maintenance of gastrointestinal epithelium; lung development; positive regulation of insulin secretion; response to insulin stimulus | 10q23-q24 |
| RBP5 | transport | 12p13.31 |
| RBP7 | - | 1p36.22 |
| RBPJ | DNA recombination; regulation of transcription, DNA-dependent; positive regulation of transcription of Notch receptor target; gene expression; negative regulation of transcription, DNA-dependent; Notch signaling pathway | 4p15.2 |
| RBPJL | regulation of transcription, DNA-dependent; signal transduction | 20q12-q13.1 |
| RBPJP6 | - | 9p11.2 |
| RBPMS | regulation of transcription, DNA-dependent; RNA processing; positive regulation of pathway-restricted SMAD protein phosphorylation; positive regulation of SMAD protein import into nucleus | 8p12 |
| RBPMS-AS1 | - | 8p12 |
| RBPMS2 | - | 15q22.31 |
| RBSG2 | - | - |
| RBSN | endosome transport; protein transport; blood coagulation | 3p25.1 |
| RBX1 | protein neddylation; DNA repair; interspecies interaction between organisms; viral reproduction; proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 22q13.2 |
| RC3H1 | negative regulation of activated T cell proliferation; cytoplasmic mRNA processing body assembly; regulation of mRNA stability; negative regulation of T-helper cell differentiation; protein ubiquitination; regulation of T cell receptor signaling pathway; negative regulation of B cell proliferation; posttranscriptional regulation of gene expression; nuclear-transcribed mRNA catabolic process; regulation of germinal center formation; negative regulation of germinal center formation | 1q25.1 |
| RC3H2 | - | 9q34 |
| RCAN1 | regulation of transcription, DNA-dependent; signal transduction; central nervous system development; blood circulation; response to mechanical stimulus; calcium-mediated signaling; response to estrogen stimulus; regulation of phosphoprotein phosphatase activity; skeletal muscle fiber development; negative regulation of smooth muscle cell differentiation | 21q22.12 |
| RCAN2 | central nervous system development; calcium-mediated signaling | 6p12.3 |
| RCAN3 | anatomical structure morphogenesis; calcium-mediated signaling | 1p35.3-p33 |
| RCBTB1 | regulation of transcription, DNA-dependent; chromatin modification; cell cycle | 13q14 |
| RCBTB2 | - | 13q14.3 |
| RCC1 | G1/S transition of mitotic cell cycle; cell cycle; mitotic spindle organization; chromosome segregation; regulation of mitosis; regulation of S phase of mitotic cell cycle; viral reproduction; spindle assembly; cell division | 1p36.1 |
| RCC2 | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; cell division | 1p36.13 |
| RCC2P1 | - | Yq11.21 |
| RCC2P4 | - | - |
| RCC2P5 | - | 3q11.2 |
| RCC2P6 | - | - |
| RCC2P7 | - | 6p12.1 |
| RCC2P8 | - | 4q25 |
| RCCD1 | - | 15q26.1 |
| RCE1 | proteolysis | 11q13 |
| RCHY1 | positive regulation of protein ubiquitination; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein autoubiquitination; protein ubiquitination | 4q21.1 |
| RCL1 | ribosome biogenesis; RNA processing | 9p24.1-p23 |
| RCN1 | in utero embryonic development; camera-type eye development | 11p13 |
| RCN1P1 | - | 6q14.3 |
| RCN1P2 | - | 13q14.13 |
| RCN2 | - | 15q23 |
| RCN3 | - | 19q13.33 |
| RCOR1 | positive regulation of megakaryocyte differentiation; interspecies interaction between organisms; erythrocyte differentiation; chromatin modification; blood coagulation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; histone H4 deacetylation | 14q32.31 |
| RCOR2 | negative regulation of transcription, DNA-dependent | 11q13.1 |
| RCOR3 | regulation of transcription, DNA-dependent | 1q32.2 |
| RCSD1 | skeletal muscle contraction; cellular hyperosmotic response | 1q24.2 |
| RD3L | - | 14q32.33 |
| RDH10 | nose development; retinoic acid biosynthetic process; in utero embryonic development; metanephros development; visual perception; gonad development; organ morphogenesis; neural crest cell development; embryonic camera-type eye development; embryonic forelimb morphogenesis; retinol metabolic process; retinal metabolic process; ear development; embryonic viscerocranium morphogenesis; primary lung bud formation; bud elongation involved in lung branching | 8q21.11 |
| RDH11 | retinoid metabolic process; steroid metabolic process; retinol metabolic process; small molecule metabolic process | 14q24.1 |
| RDH12 | photoreceptor cell maintenance; retinol metabolic process; visual perception; response to stimulus | 14q24.1 |
| RDH13 | - | 19q13.42 |
| RDH14 | - | 2p24.2 |
| RDH16 | lipid metabolic process | 12q13.3 |
| RDH5 | visual perception; response to stimulus | 12q13-q14 |
| RDH8 | steroid biosynthetic process; estrogen biosynthetic process; visual perception; retinol metabolic process; response to stimulus | 19p13.2 |
| RDM1 | DNA recombination; DNA repair | 17q11.2 |
| RDX | microvillus assembly; apical protein localization; actin filament capping | 11q23 |
| REC114 | meiosis; DNA recombination | 15q22 |
| REC8 | meiosis; spermatogenesis; male meiosis I; reciprocal meiotic recombination; synapsis; spermatid development; sister chromatid cohesion; oocyte maturation | 14q11.2-q12 |
| RECK | blood vessel maturation; negative regulation of endopeptidase activity; extracellular matrix organization | 9p13.3 |
| RECQL | DNA strand renaturation; DNA replication; DNA repair; DNA recombination; DNA duplex unwinding | 12p12 |
| RECQL4 | DNA repair; DNA duplex unwinding; multicellular organismal development; DNA recombination; DNA strand renaturation; DNA replication | 8q24.3 |
| RECQL5 | DNA metabolic process; DNA repair; DNA recombination; DNA duplex unwinding | 17q25 |
| REEP1 | protein insertion into membrane; cell death | 2p11.2 |
| REEP2 | - | 5q31 |
| REEP3 | - | 10q21.3 |
| REEP4 | - | 8p21.3 |
| REEP5 | - | 5q22-q23 |
| REEP6 | - | 19p13.3 |
| REG1A | positive regulation of cell proliferation | 2p12 |
| REG1B | cell proliferation | 2p12 |
| REG1CP | - | 2p12 |
| REG4 | - | 1p13.1-p12 |
| REL | regulation of transcription, DNA-dependent; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of interleukin-12 biosynthetic process; positive regulation of transcription, DNA-dependent; cytokine production | 2p13-p12 |
| RELA | negative regulation of transcription, DNA-dependent; innate immune response; positive regulation of interleukin-12 biosynthetic process; interspecies interaction between organisms; response to amino acid stimulus; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of apoptotic process; response to hydrogen peroxide; response to drug; negative regulation of protein catabolic process; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; response to morphine; toll-like receptor 2 signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of insulin receptor signaling pathway; nerve growth factor receptor signaling pathway; regulation of inflammatory response; T cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; response to cAMP; defense response to virus; nucle | 11q13 |
| RELB | T-helper 1 cell differentiation; myeloid dendritic cell differentiation; antigen processing and presentation; regulation of transcription, DNA-dependent; positive regulation of gene expression | 19q13.32 |
| RELL1 | - | 4p14 |
| RELL2 | positive regulation of cell-substrate adhesion | 5q31.3 |
| RELN | positive regulation of small GTPase mediated signal transduction; positive regulation of peptidyl-tyrosine phosphorylation; response to pain; positive regulation of protein kinase activity; thyroid hormone metabolic process; reelin-mediated signaling pathway; cerebral cortex tangential migration; spinal cord patterning; ventral spinal cord development; brain development; central nervous system development; axon guidance; multicellular organismal development; cell adhesion; proteolysis; neuron migration; cell morphogenesis involved in differentiation; locomotory behavior; glial cell differentiation; dendrite development; peptidyl-tyrosine phosphorylation | 7q22 |
| RELT | - | 11q13.4 |
| REM1 | small GTPase mediated signal transduction; signal transduction | 20q11.21 |
| REM2 | small GTPase mediated signal transduction; signal transduction; regulation of transcription, DNA-dependent | 14q11.2 |
| REN | response to cGMP; response to cAMP; cell maturation; regulation of MAPK cascade; drinking behavior; response to drug; hormone-mediated signaling pathway; male gonad development; response to stress; proteolysis; renin-angiotensin regulation of aldosterone production; angiotensin maturation; mesonephros development; kidney development; regulation of blood pressure | 1q32 |
| RENBP | N-acetylglucosamine metabolic process; negative regulation of endopeptidase activity; regulation of blood pressure; mannose metabolic process | Xq28 |
| REP15 | - | 12p11.22 |
| REPIN1 | DNA replication | 7q36.1 |
| REPS1 | - | 6q24.1 |
| REPS2 | epidermal growth factor receptor signaling pathway; protein complex assembly | Xp22.2 |
| RER1 | retrograde vesicle-mediated transport, Golgi to ER | 1p36 |
| RERE | chromatin remodeling; multicellular organismal development; NLS-bearing substrate import into nucleus | 1p36.23 |
| RERG | negative regulation of cell growth; response to hormone stimulus; negative regulation of cell proliferation; small GTPase mediated signal transduction; signal transduction; GTP catabolic process | 12p12.3 |
| RERG-AS1 | - | - |
| RERG-IT1 | - | - |
| RERGL | signal transduction; small GTPase mediated signal transduction | 12p12.3 |
| REST | negative regulation of mesenchymal stem cell differentiation; negative regulation of dense core granule biogenesis; negative regulation of amniotic stem cell differentiation; positive regulation of transcription, DNA-dependent; negative regulation of cortisol biosynthetic process; cellular response to glucocorticoid stimulus; cellular response to electrical stimulus; histone H4 deacetylation; calcium ion transmembrane transport; cardiac muscle cell myoblast differentiation; negative regulation of neurogenesis; negative regulation of insulin secretion; negative regulation of calcium ion-dependent exocytosis; negative regulation of transcription, DNA-dependent; negative regulation of neuron differentiation; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of cell proliferation; negative regulation of gene expression; negative regulation of aldosterone biosynthetic process; cellular response to drug; positive regulation of apopt | 4q12 |
| RET | positive regulation of neuron projection development; posterior midgut development; regulation of cell adhesion; positive regulation of cell migration; membrane protein proteolysis; positive regulation of cell adhesion mediated by integrin; neuron maturation; positive regulation of transcription, DNA-dependent; response to pain; enteric nervous system development; Peyer's patch morphogenesis; cellular response to retinoic acid; positive regulation of metanephric glomerulus development; lymphocyte migration into lymphoid organs; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand; nervous system development; MAPK cascade; ureteric bud development; neural crest cell migration; embryonic epithelial tube formation; protein phosphorylation; homophilic cell adhesion; neuron cell-cell adhesion; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway | 10q11.2 |
| RETN | fat cell differentiation; response to insulin stimulus | 19p13.2 |
| RETSAT | oxidation-reduction process; retinol metabolic process | 2p11.2 |
| REV1 | DNA replication; DNA repair; error-prone translesion synthesis; response to UV | 2q11.1-q11.2 |
| REV3L | nucleobase-containing compound metabolic process; DNA-dependent DNA replication; DNA repair; translesion synthesis | 6q21 |
| REXO1L4P | - | 8q21.2 |
| REXO2 | nucleotide metabolic process; nucleobase-containing compound metabolic process | 11q23.2 |
| REXO4 | regulation of transcription, DNA-dependent | 9q34.2 |
| RFC1 | DNA strand elongation involved in DNA replication; regulation of transcription, DNA-dependent; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; nucleotide-excision repair, DNA gap filling; positive regulation of catalytic activity; telomere maintenance via semi-conservative replication; telomere maintenance via telomerase; telomere maintenance; telomere maintenance via recombination; mitotic cell cycle; S phase of mitotic cell cycle; DNA-dependent DNA replication | 4p14-p13 |
| RFC2 | telomere maintenance; telomere maintenance via semi-conservative replication; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; DNA strand elongation involved in DNA replication; DNA replication; telomere maintenance via recombination; mitotic cell cycle; S phase of mitotic cell cycle; cell cycle checkpoint | 7q11.23 |
| RFC3 | ATP catabolic process; nucleotide-excision repair; nucleotide-excision repair, DNA gap filling; telomere maintenance via semi-conservative replication; transcription-coupled nucleotide-excision repair; DNA repair; DNA strand elongation involved in DNA replication; DNA replication; response to organophosphorus; DNA synthesis involved in DNA repair; telomere maintenance via recombination; mitotic cell cycle; S phase of mitotic cell cycle; cell cycle checkpoint; telomere maintenance | 13q13.2 |
| RFC4 | DNA replication; phosphatidylinositol-mediated signaling; telomere maintenance via semi-conservative replication; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; DNA strand elongation involved in DNA replication; telomere maintenance; mitotic cell cycle; S phase of mitotic cell cycle; cell cycle checkpoint; telomere maintenance via recombination | 3q27 |
| RFC5 | DNA repair; DNA strand elongation involved in DNA replication; DNA replication; telomere maintenance; telomere maintenance via recombination; mitotic cell cycle; S phase of mitotic cell cycle; cell cycle checkpoint; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; telomere maintenance via semi-conservative replication; nucleotide-excision repair, DNA gap filling | 12q24.23 |
| RFESD | - | 5q15 |
| RFFL | intracellular protein transport; apoptotic process | 17q12 |
| RFK | vitamin metabolic process; small molecule metabolic process; riboflavin biosynthetic process; water-soluble vitamin metabolic process; riboflavin metabolic process | 9q21.13 |
| RFKP1 | - | 1q |
| RFNG | pattern specification process; nervous system development; organ morphogenesis; cell differentiation | 17q25 |
| RFPL1S | - | 22q12 |
| RFPL2 | - | 22q12.3 |
| RFPL3S | - | 22q12.3 |
| RFPL4AL1 | - | 19q13.42 |
| RFPL4AP1 | - | 19q13.42 |
| RFPL4B | - | 6q21 |
| RFT1 | dolichol-linked oligosaccharide biosynthetic process; transport; carbohydrate transport; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 3p21.1 |
| RFTN1 | - | 3p24.3 |
| RFTN1P1 | - | Yp11.2 |
| RFTN2 | - | 2q33.1 |
| RFWD2 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; cell cycle checkpoint | 1q25.1-q25.2 |
| RFWD2P1 | - | 18p11.23 |
| RFWD3 | DNA repair; response to ionizing radiation; mitotic cell cycle G1/S transition DNA damage checkpoint; protein ubiquitination | 16q23.1 |
| RFX1 | immune response; regulation of transcription, DNA-dependent | 19p13.1 |
| RFX2 | regulation of transcription, DNA-dependent | 19p13.3 |
| RFX3 | positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; cilium assembly; endocrine pancreas development; cell differentiation; multicellular organismal development; regulation of transcription, DNA-dependent; positive regulation of type B pancreatic cell development; type B pancreatic cell maturation; epithelial cilium movement involved in determination of left/right asymmetry; ciliary cell motility; regulation of insulin secretion; cell maturation; positive regulation of transcription from RNA polymerase II promoter | 9p24.2 |
| RFX4 | regulation of transcription, DNA-dependent | 12q24 |
| RFX5 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 1q21 |
| RFX6 | multicellular organismal development; endocrine pancreas development; positive regulation of transcription, DNA-dependent; pancreatic D cell differentiation; pancreatic E cell differentiation; regulation of insulin secretion; pancreatic A cell differentiation; type B pancreatic cell differentiation; glucose homeostasis | 6q22.1 |
| RFX7 | regulation of transcription, DNA-dependent | 15q21.3 |
| RFX8 | regulation of transcription, DNA-dependent | 2q11.2 |
| RFXANK | regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; Ras protein signal transduction | 19p12 |
| RFXAP | regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 13q14 |
| RGAG1 | - | Xq23 |
| RGAG4 | - | Xq13.1 |
| RGCC | cell cycle; regulation of cyclin-dependent protein kinase activity | 13q14.11 |
| RGL1 | signal transduction; small GTPase mediated signal transduction; cellular lipid metabolic process; small molecule metabolic process; regulation of small GTPase mediated signal transduction | 1q25.3 |
| RGL2 | Ras protein signal transduction; signal transduction; regulation of small GTPase mediated signal transduction | 6p21.3 |
| RGL3 | signal transduction; regulation of small GTPase mediated signal transduction | 19p13.2 |
| RGL4 | small GTPase mediated signal transduction | 22q11.23 |
| RGMA | axon guidance | 15q26.1 |
| RGMB | positive regulation of transcription, DNA-dependent; BMP signaling pathway; axon guidance; cell adhesion; signal transduction | 5q15 |
| RGMB-AS1 | - | 5q21.1 |
| RGP1 | - | 9pter-p22.1 |
| RGPD4 | intracellular transport; protein targeting to Golgi | 2q12.3 |
| RGPD5 | - | 2q13 |
| RGPD8 | protein targeting to Golgi; intracellular transport | 2q13 |
| RGR | G-protein coupled receptor signaling pathway; visual perception; phototransduction; protein-chromophore linkage; response to stimulus | 10q23 |
| RGS1 | negative regulation of signal transduction; inhibition of adenylate cyclase activity by G-protein signaling pathway; signal transduction; immune response; positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway | 1q31 |
| RGS10 | positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway; negative regulation of signal transduction | 10q25 |
| RGS11 | G-protein coupled receptor signaling pathway; regulation of G-protein coupled receptor protein signaling pathway; negative regulation of signal transduction; intracellular signal transduction; positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway | 16p13.3 |
| RGS12 | positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway; regulation of G-protein coupled receptor protein signaling pathway; signal transduction | 4p16.3 |
| RGS13 | positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway | 1q31.2 |
| RGS14 | learning; long-term memory; regulation of G-protein coupled receptor protein signaling pathway; visual learning; negative regulation of signal transduction; zygote asymmetric cell division; negative regulation of synaptic plasticity; termination of G-protein coupled receptor signaling pathway; negative regulation of MAP kinase activity; positive regulation of GTPase activity; regulation of DNA-dependent transcription in response to stress; nucleocytoplasmic transport; mitosis; chromosome segregation; spindle organization; cell cycle; response to oxidative stress; platelet-derived growth factor receptor signaling pathway; positive regulation of neurogenesis; cell division; long-term synaptic potentiation; negative regulation of ERK1 and ERK2 cascade | 5q35.3 |
| RGS16 | visual perception; regulation of G-protein coupled receptor protein signaling pathway; negative regulation of signal transduction; positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway | 1q25-q31 |
| RGS17 | negative regulation of signal transduction; positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway | 6q25.3 |
| RGS17P1 | - | 13q14.11 |
| RGS18 | positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway; negative regulation of signal transduction; regulation of G-protein coupled receptor protein signaling pathway | 1q31.2 |
| RGS19 | G-protein coupled receptor signaling pathway; small GTPase mediated signal transduction; positive regulation of GTPase activity; autophagy; termination of G-protein coupled receptor signaling pathway; negative regulation of signal transduction | 20q13.33 |
| RGS2 | brown fat cell differentiation; relaxation of cardiac muscle; negative regulation of G-protein coupled receptor protein signaling pathway; positive regulation of GTPase activity; negative regulation of MAP kinase activity; regulation of translation; cell cycle; spermatogenesis; regulation of G-protein coupled receptor protein signaling pathway; negative regulation of phospholipase activity; negative regulation of cardiac muscle hypertrophy; termination of G-protein coupled receptor signaling pathway; regulation of adrenergic receptor signaling pathway; positive regulation of cardiac muscle contraction | 1q31 |
| RGS20 | regulation of G-protein coupled receptor protein signaling pathway; negative regulation of signal transduction; termination of G-protein coupled receptor signaling pathway; positive regulation of GTPase activity | 8q11.23 |
| RGS22 | positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway; negative regulation of signal transduction | 8q22.2 |
| RGS3 | termination of G-protein coupled receptor signaling pathway; inactivation of MAPK activity; regulation of G-protein coupled receptor protein signaling pathway; positive regulation of GTPase activity; negative regulation of signal transduction | 9q32 |
| RGS4 | inactivation of MAPK activity; regulation of G-protein coupled receptor protein signaling pathway; negative regulation of signal transduction; positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway | 1q23.3 |
| RGS5 | negative regulation of signal transduction; regulation of G-protein coupled receptor protein signaling pathway; signal transduction; termination of G-protein coupled receptor signaling pathway; positive regulation of GTPase activity | 1q23.1 |
| RGS6 | G-protein coupled receptor signaling pathway; regulation of G-protein coupled receptor protein signaling pathway; negative regulation of signal transduction; positive regulation of neuron differentiation; positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway; intracellular signal transduction | 14q24.3 |
| RGS7 | regulation of G-protein coupled receptor protein signaling pathway; G-protein coupled receptor signaling pathway; negative regulation of signal transduction; intracellular signal transduction; termination of G-protein coupled receptor signaling pathway; positive regulation of GTPase activity | 1q43|1q23.1 |
| RGS7BP | G-protein coupled receptor signaling pathway; negative regulation of signal transduction | 5q12.3 |
| RGS8 | negative regulation of signal transduction; positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway | 1q25 |
| RGS9 | visual perception; response to stimulus; response to estrogen stimulus; dopamine receptor signaling pathway; nervous system development; intracellular signal transduction; regulation of G-protein coupled receptor protein signaling pathway; negative regulation of signal transduction; positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway | 17q24 |
| RGS9BP | negative regulation of signal transduction; detection of light stimulus involved in visual perception; response to stimulus | 19q13.11 |
| RGSL1 | termination of G-protein coupled receptor signaling pathway | 1q25 |
| RHAG | transmembrane transport; cellular ion homeostasis; carbon dioxide transport; ammonium transport; ammonium transmembrane transport | 6p12.3 |
| RHBDD1 | proteolysis | 2q36.3 |
| RHBDD2 | - | 7q11.23 |
| RHBDD3 | - | 22q12.2 |
| RHBDF1 | regulation of protein secretion; regulation of epidermal growth factor receptor signaling pathway; negative regulation of protein secretion; cell migration; protein transport; cell proliferation; proteolysis; regulation of proteasomal protein catabolic process | 16p13.3 |
| RHBDF1P1 | - | 3p25.1 |
| RHBDF2 | proteolysis; protein transport; negative regulation of protein secretion | 17q25.1 |
| RHBDL1 | signal transduction; proteolysis | 16p13.3 |
| RHBDL2 | proteolysis | 1p34.3 |
| RHBDL3 | proteolysis | 17q11.2 |
| RHBG | ammonium transmembrane transport; ammonium transport; transmembrane transport; transepithelial ammonium transport | 1q21.3 |
| RHCG | ammonium transport; amine transport; epithelial cell differentiation; ammonium transmembrane transport; transepithelial ammonium transport; transmembrane transport; homeostatic process; regulation of pH; cellular ion homeostasis | 15q25 |
| RHD | - | 1p36.11 |
| RHEB | insulin receptor signaling pathway; GTP catabolic process; cell cycle arrest; signal transduction; small GTPase mediated signal transduction; positive regulation of TOR signaling cascade | 7q36 |
| RHEBL1 | positive regulation of NF-kappaB transcription factor activity; TOR signaling cascade; small GTPase mediated signal transduction; signal transduction | 12q13.12 |
| RHEBP1 | - | 10q11 |
| RHNO1 | - | 12p13.33 |
| RHOA | axon guidance; spindle assembly involved in mitosis; positive regulation of cell cycle cytokinesis; trabecula morphogenesis; androgen receptor signaling pathway; positive regulation of axonogenesis; negative regulation of axonogenesis; regulation of axonogenesis; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; positive regulation of neuron differentiation; interspecies interaction between organisms; ossification involved in bone maturation; negative regulation of neuron apoptosis; apical junction assembly; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of NF-kappaB import into nucleus; regulation of osteoblast proliferation; negative regulation of intracellular steroid hormone receptor signaling pathway; cell division; regulation of cell migration; platelet activation; cell differentiation; actin cytoskeleton organization; blood coagulation; skeletal muscle tissue development; Rho protein signal transduction; small GTPase mediated signal | 3p21.3 |
| RHOB | platelet activation; cellular response to ionizing radiation; cellular response to hydrogen peroxide; regulation of small GTPase mediated signal transduction; negative regulation of cell cycle; positive regulation of angiogenesis; positive regulation of apoptotic process; cell cycle cytokinesis; cell differentiation; protein transport; blood coagulation; GTP catabolic process; apoptotic process; transformed cell apoptosis; cell adhesion; small GTPase mediated signal transduction; Rho protein signal transduction; multicellular organismal development; axon guidance; endosome to lysosome transport | 2p24 |
| RHOBTB1 | small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 10q21.2 |
| RHOBTB2 | small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 8p21.3 |
| RHOBTB3 | small GTPase mediated signal transduction; transport; ATP catabolic process; retrograde transport, endosome to Golgi | 5q15 |
| RHOC | positive regulation of cell growth; response to hypoxia; GTP catabolic process; signal transduction; small GTPase mediated signal transduction; axon guidance; regulation of actin polymerization or depolymerization; response to mechanical stimulus; apical junction assembly; negative regulation of calcium ion transport via voltage-gated calcium channel activity; response to glucocorticoid stimulus; regulation of small GTPase mediated signal transduction; regulation of dendrite development; neuron projection morphogenesis; positive regulation of vasoconstriction; positive regulation of cell adhesion; positive regulation of translation; negative regulation of neuron differentiation; response to ethanol; positive regulation of neuron apoptosis; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; response to amino acid stimulus; negative regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of I-kappaB kinase/NF-kappaB cascade; response to drug; cell cycle cytok | 1p13.1 |
| RHOD | small GTPase mediated signal transduction; Rho protein signal transduction; regulation of small GTPase mediated signal transduction; GTP catabolic process | 11q14.3 |
| RHOF | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; actin filament organization; GTP catabolic process | 12q24.31 |
| RHOG | blood coagulation; positive regulation of cell proliferation; actin cytoskeleton organization; platelet activation; activation of Rac GTPase activity; positive regulation of transcription, DNA-dependent; regulation of small GTPase mediated signal transduction; Rac protein signal transduction; cell chemotaxis; positive regulation of establishment of protein localization in plasma membrane; axon guidance; Rho protein signal transduction; small GTPase mediated signal transduction; GTP catabolic process | 11p15.5-p15.4 |
| RHOH | regulation of small GTPase mediated signal transduction; negative regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of phosphorylation; T cell differentiation; small GTPase mediated signal transduction; regulation of transcription, DNA-dependent | 4p13 |
| RHOJ | small GTPase mediated signal transduction; Rho protein signal transduction; regulation of cell shape; actin cytoskeleton organization; regulation of small GTPase mediated signal transduction; GTP catabolic process | 14q23.2 |
| RHOQ | GTP catabolic process; cellular response to insulin stimulus; cortical actin cytoskeleton organization; regulation of cell shape; regulation of actin cytoskeleton organization; positive regulation of transcription from RNA polymerase II promoter; positive regulation of glucose import; regulation of small GTPase mediated signal transduction; positive regulation of filopodium assembly; negative regulation of establishment of protein localization in plasma membrane; insulin receptor signaling pathway; small GTPase mediated signal transduction | 2p21 |
| RHOQP1 | - | 14q21.3 |
| RHOQP2 | - | 2q21.1 |
| RHOQP3 | - | 2q21.1 |
| RHOT1 | apoptotic process; small GTPase mediated signal transduction; cellular homeostasis; mitochondrion transport along microtubule; regulation of small GTPase mediated signal transduction | 17q11.2 |
| RHOT1P1 | - | 18p11.21 |
| RHOT1P2 | - | - |
| RHOT2 | mitochondrion transport along microtubule; apoptotic process; regulation of small GTPase mediated signal transduction; cellular homeostasis; small GTPase mediated signal transduction | 16p13.3 |
| RHOU | G1/S transition of mitotic cell cycle; regulation of small GTPase mediated signal transduction; actin cytoskeleton organization; cytoskeleton organization; small GTPase mediated signal transduction; regulation of cell shape; Rac protein signal transduction | 1q42.11-q42.3 |
| RHOV | small GTPase mediated signal transduction; signal transduction; regulation of small GTPase mediated signal transduction | 15q13.3 |
| RHOXF2 | - | Xq24 |
| RHOXF2B | - | Xq24 |
| RHPN1 | signal transduction | 8q24.3 |
| RHPN1-AS1 | - | 8q24 |
| RHPN2 | signal transduction | 19q13.11 |
| RHPN2P1 | - | 15q11.1 |
| RIBC1 | - | Xp11.22 |
| RIBC2 | - | 22q13.31 |
| RIC1 | - | 9p24.1 |
| RIC3 | - | 11p15.4 |
| RIC8B | regulation of G-protein coupled receptor protein signaling pathway | 12q23.3 |
| RICTOR | positive regulation of TOR signaling cascade; regulation of Rac GTPase activity; regulation of actin cytoskeleton organization; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; positive regulation of peptidyl-tyrosine phosphorylation; actin cytoskeleton reorganization; regulation of protein kinase B signaling cascade; T cell costimulation; positive regulation of actin filament polymerization; fibroblast growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; embryo development | 5p13.1 |
| RIF1 | cell cycle; response to DNA damage stimulus | 2q23.3 |
| RIIAD1 | signal transduction | 1q21.3 |
| RILP | endosome to lysosome transport; protein transport | 17p13.3 |
| RILPL1 | neuroprotection | 12q24.31 |
| RILPL2 | - | 12q24.31 |
| RIMBP2 | negative regulation of phosphatase activity | 12q24.33 |
| RIMBP3C | - | 22q11.21 |
| RIMKLA | protein modification process | 1p34.2 |
| RIMKLB | protein modification process | 12p13.31 |
| RIMKLBP1 | - | 21q22.12 |
| RIMS1 | neurotransmitter secretion; visual perception; calcium ion-dependent exocytosis; synaptic transmission; cellular membrane fusion; intracellular protein transport; protein complex assembly; glutamate secretion; synaptic vesicle exocytosis; regulated secretory pathway; secretion; response to stimulus | 6q12-q13 |
| RIMS2 | intracellular protein transport | 8q22.3 |
| RIMS3 | neurotransmitter transport; calcium ion-dependent exocytosis | 1pter-p22.2 |
| RIMS4 | exocytosis; neurotransmitter transport | 20q13.12 |
| RIN1 | endocytosis; signal transduction | 11q13.2 |
| RIN2 | small GTPase mediated signal transduction; endocytosis; signal transduction | 20p11.22 |
| RIN3 | signal transduction; endocytosis | 14q32.12 |
| RING1 | camera-type eye morphogenesis; negative regulation of transcription, DNA-dependent; histone ubiquitination; chromatin modification; anterior/posterior pattern specification; histone H2A monoubiquitination | 6p21.3 |
| RINL | - | 19q13.2 |
| RINT1 | G2/M transition DNA damage checkpoint; vesicle-mediated transport; protein transport; cell cycle | 7q22.3 |
| RIOK1 | - | 6p24.3 |
| RIOK2 | protein phosphorylation | 5q15 |
| RIOK3 | protein phosphorylation; chromosome segregation | 18q11.2 |
| RIPK1 | positive regulation of extrinsic apoptotic signaling pathway; positive regulation of NF-kappaB transcription factor activity; toll-like receptor 3 signaling pathway; activation of JUN kinase activity; signal transduction; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; apoptotic process; Toll signaling pathway; induction of apoptosis by extracellular signals; activation of pro-apoptotic gene products; positive regulation of necrotic cell death; positive regulation of interleukin-8 production; MyD88-independent toll-like receptor signaling pathway; positive regulation of tumor necrosis factor production; tumor necrosis factor-mediated signaling pathway; negative regulation of extrinsic apoptotic signaling pathway; toll-like receptor 4 signaling pathway; response to tumor necrosis factor; TRIF-dependent toll-like receptor signaling pathway; positive regulation of programmed cell death; positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immu | 6p25.2 |
| RIPK2 | positive regulation of ERK1 and ERK2 cascade; response to exogenous dsRNA; response to interleukin-1; nucleotide-binding oligomerization domain containing 2 signaling pathway; nucleotide-binding oligomerization domain containing 1 signaling pathway; nucleotide-binding oligomerization domain containing signaling pathway; positive regulation of chemokine production; stress-activated MAPK cascade; positive regulation of NF-kappaB transcription factor activity; T cell receptor signaling pathway; defense response to Gram-positive bacterium; nerve growth factor receptor signaling pathway; positive regulation of alpha-beta T cell proliferation; positive regulation of JNK cascade; positive regulation of T-helper 1 cell differentiation; innate immune response; lipopolysaccharide-mediated signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of apoptotic process; T cell proliferation; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; TRIF-de | 8q21 |
| RIPK3 | induction of apoptosis by extracellular signals; protein modification process; protein phosphorylation; signal transduction; I-kappaB kinase/NF-kappaB cascade | 14q11.2 |
| RIPK4 | - | 21q22.3 |
| RIPPLY2 | tail morphogenesis; determination of left/right symmetry; multicellular organismal development; somitogenesis; axis specification; somite rostral/caudal axis specification; ossification | 6q14.2 |
| RIPPLY3 | - | 21q22.2 |
| RIT1 | nerve growth factor receptor signaling pathway; small GTPase mediated signal transduction; signal transduction | 1q22 |
| RIT2 | nerve growth factor receptor signaling pathway; synaptic transmission; GTP catabolic process; signal transduction; small GTPase mediated signal transduction | 18q12.3 |
| RITA1 | neurogenesis; nuclear export; negative regulation of transcription from RNA polymerase II promoter; negative regulation of Notch signaling pathway | 12q24.13 |
| RLBP1 | vitamin A metabolic process; visual perception; response to stimulus | 15q26 |
| RLF | chromosome organization; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; DNA mediated transformation; DNA integration; positive regulation of transcription, DNA-dependent | 1p32 |
| RLIM | negative regulation of transcription from RNA polymerase II promoter; random inactivation of X chromosome; negative regulation of transcription, DNA-dependent; negative regulation of sequence-specific DNA binding transcription factor activity; ubiquitin-dependent protein catabolic process; protein ubiquitination | Xq13-q21 |
| RLIMP1 | - | - |
| RLN1 | female pregnancy; signal transduction | 9p24.1 |
| RLN2 | female pregnancy | 9p24.1 |
| RLTPR | - | 16q22.1 |
| RMDN1 | - | 8q21.3 |
| RMDN2 | - | 2p22.2 |
| RMDN3 | - | 15q15.1 |
| RMI1 | DNA replication | 9q21.32 |
| RMI2 | DNA replication | 16p13.13 |
| RMND1 | - | 6q25.1 |
| RMND5A | - | 2p11.2 |
| RMND5B | - | 5q35.3 |
| RMST | - | 12q23.1|12q21 |
| RN7SKP1 | - | - |
| RN7SKP6 | - | - |
| RN7SKP8 | - | - |
| RN7SL2 | - | 14q21.3 |
| RN7SL4P | - | 3p25.1 |
| RN7SL7P | - | 7q21.2 |
| RN7SL8P | - | 7q22.3 |
| RNA45S5 | - | - |
| RNA5-8SP2 | - | - |
| RNA5-8SP3 | - | - |
| RNA5-8SP5 | - | - |
| RNA5S17 | - | 1q42 |
| RNA5SP101 | - | - |
| RNA5SP103 | - | - |
| RNA5SP104 | - | - |
| RNA5SP107 | - | - |
| RNA5SP110 | - | - |
| RNA5SP111 | - | - |
| RNA5SP112 | - | - |
| RNA5SP116 | - | - |
| RNA5SP117 | - | - |
| RNA5SP119 | - | - |
| RNA5SP121 | - | - |
| RNA5SP122 | - | - |
| RNA5SP123 | - | - |
| RNA5SP124 | - | - |
| RNA5SP126 | - | - |
| RNA5SP127 | - | - |
| RNA5SP131 | - | - |
| RNA5SP132 | - | - |
| RNA5SP137 | - | - |
| RNA5SP139 | - | - |
| RNA5SP143 | - | - |
| RNA5SP144 | - | - |
| RNA5SP152 | - | - |
| RNA5SP155 | - | - |
| RNA5SP156 | - | - |
| RNA5SP160 | - | - |
| RNA5SP164 | - | - |
| RNA5SP167 | - | - |
| RNA5SP169 | - | - |
| RNA5SP171 | - | - |
| RNA5SP176 | - | - |
| RNA5SP178 | - | - |
| RNA5SP18 | - | - |
| RNA5SP180 | - | - |
| RNA5SP181 | - | - |
| RNA5SP185 | - | - |
| RNA5SP186 | - | - |
| RNA5SP187 | - | - |
| RNA5SP188 | - | - |
| RNA5SP189 | - | - |
| RNA5SP19 | - | - |
| RNA5SP190 | - | - |
| RNA5SP191 | - | - |
| RNA5SP193 | - | - |
| RNA5SP194 | - | - |
| RNA5SP195 | - | - |
| RNA5SP197 | - | - |
| RNA5SP201 | - | - |
| RNA5SP203 | - | - |
| RNA5SP204 | - | - |
| RNA5SP205 | - | - |
| RNA5SP208 | - | - |
| RNA5SP209 | - | - |
| RNA5SP210 | - | - |
| RNA5SP213 | - | - |
| RNA5SP214 | - | - |
| RNA5SP217 | - | - |
| RNA5SP219 | - | - |
| RNA5SP22 | - | - |
| RNA5SP222 | - | - |
| RNA5SP223 | - | - |
| RNA5SP224 | - | - |
| RNA5SP225 | - | - |
| RNA5SP229 | - | - |
| RNA5SP232 | - | - |
| RNA5SP237 | - | - |
| RNA5SP239 | - | - |
| RNA5SP24 | - | - |
| RNA5SP240 | - | - |
| RNA5SP241 | - | - |
| RNA5SP242 | - | - |
| RNA5SP245 | - | - |
| RNA5SP247 | - | - |
| RNA5SP25 | - | - |
| RNA5SP250 | - | - |
| RNA5SP252 | - | - |
| RNA5SP259 | - | - |
| RNA5SP26 | - | - |
| RNA5SP260 | - | - |
| RNA5SP266 | - | - |
| RNA5SP268 | - | - |
| RNA5SP27 | - | - |
| RNA5SP270 | - | - |
| RNA5SP271 | - | - |
| RNA5SP272 | - | - |
| RNA5SP273 | - | - |
| RNA5SP274 | - | - |
| RNA5SP276 | - | - |
| RNA5SP277 | - | - |
| RNA5SP278 | - | - |
| RNA5SP28 | - | - |
| RNA5SP282 | - | - |
| RNA5SP285 | - | - |
| RNA5SP286 | - | - |
| RNA5SP289 | - | - |
| RNA5SP29 | - | - |
| RNA5SP294 | - | - |
| RNA5SP299 | - | - |
| RNA5SP30 | - | - |
| RNA5SP300 | - | - |
| RNA5SP304 | - | - |
| RNA5SP305 | - | - |
| RNA5SP306 | - | - |
| RNA5SP307 | - | - |
| RNA5SP309 | - | - |
| RNA5SP31 | - | - |
| RNA5SP318 | - | - |
| RNA5SP32 | - | - |
| RNA5SP321 | - | - |
| RNA5SP324 | - | - |
| RNA5SP326 | - | - |
| RNA5SP327 | - | - |
| RNA5SP328 | - | - |
| RNA5SP329 | - | - |
| RNA5SP33 | - | - |
| RNA5SP330 | - | - |
| RNA5SP331 | - | - |
| RNA5SP332 | - | - |
| RNA5SP339 | - | - |
| RNA5SP34 | - | - |
| RNA5SP341 | - | - |
| RNA5SP343 | - | - |
| RNA5SP344 | - | - |
| RNA5SP345 | - | - |
| RNA5SP346 | - | - |
| RNA5SP35 | - | - |
| RNA5SP353 | - | - |
| RNA5SP356 | - | - |
| RNA5SP358 | - | - |
| RNA5SP360 | - | - |
| RNA5SP363 | - | - |
| RNA5SP366 | - | - |
| RNA5SP367 | - | - |
| RNA5SP37 | - | - |
| RNA5SP371 | - | - |
| RNA5SP372 | - | - |
| RNA5SP374 | - | - |
| RNA5SP375 | - | - |
| RNA5SP379 | - | - |
| RNA5SP382 | - | - |
| RNA5SP383 | - | - |
| RNA5SP385 | - | - |
| RNA5SP394 | - | - |
| RNA5SP396 | - | - |
| RNA5SP398 | - | - |
| RNA5SP399 | - | - |
| RNA5SP402 | - | - |
| RNA5SP405 | - | - |
| RNA5SP413 | - | - |
| RNA5SP415 | - | - |
| RNA5SP42 | - | - |
| RNA5SP425 | - | - |
| RNA5SP426 | - | - |
| RNA5SP427 | - | - |
| RNA5SP43 | - | - |
| RNA5SP431 | - | - |
| RNA5SP438 | - | - |
| RNA5SP444 | - | - |
| RNA5SP45 | - | - |
| RNA5SP450 | - | - |
| RNA5SP451 | - | - |
| RNA5SP452 | - | - |
| RNA5SP454 | - | - |
| RNA5SP455 | - | - |
| RNA5SP456 | - | - |
| RNA5SP457 | - | - |
| RNA5SP46 | - | - |
| RNA5SP462 | - | - |
| RNA5SP464 | - | - |
| RNA5SP465 | - | - |
| RNA5SP467 | - | - |
| RNA5SP470 | - | - |
| RNA5SP474 | - | - |
| RNA5SP476 | - | - |
| RNA5SP477 | - | - |
| RNA5SP478 | - | - |
| RNA5SP479 | - | - |
| RNA5SP481 | - | - |
| RNA5SP482 | - | - |
| RNA5SP484 | - | - |
| RNA5SP485 | - | - |
| RNA5SP487 | - | - |
| RNA5SP488 | - | - |
| RNA5SP49 | - | - |
| RNA5SP491 | - | - |
| RNA5SP492 | - | - |
| RNA5SP494 | - | - |
| RNA5SP495 | - | - |
| RNA5SP496 | - | - |
| RNA5SP497 | - | - |
| RNA5SP500 | - | - |
| RNA5SP501 | - | - |
| RNA5SP503 | - | - |
| RNA5SP504 | - | - |
| RNA5SP505 | - | - |
| RNA5SP507 | - | - |
| RNA5SP508 | - | - |
| RNA5SP509 | - | - |
| RNA5SP51 | - | - |
| RNA5SP510 | - | - |
| RNA5SP511 | - | - |
| RNA5SP512 | - | - |
| RNA5SP513 | - | - |
| RNA5SP514 | - | - |
| RNA5SP516 | - | - |
| RNA5SP517 | - | - |
| RNA5SP519 | - | - |
| RNA5SP53 | - | - |
| RNA5SP54 | - | - |
| RNA5SP55 | - | - |
| RNA5SP56 | - | - |
| RNA5SP60 | - | - |
| RNA5SP62 | - | - |
| RNA5SP63 | - | - |
| RNA5SP64 | - | - |
| RNA5SP65 | - | - |
| RNA5SP68 | - | - |
| RNA5SP69 | - | - |
| RNA5SP71 | - | - |
| RNA5SP74 | - | - |
| RNA5SP76 | - | - |
| RNA5SP81 | - | - |
| RNA5SP82 | - | - |
| RNA5SP86 | - | - |
| RNA5SP87 | - | - |
| RNA5SP88 | - | - |
| RNA5SP90 | - | - |
| RNA5SP91 | - | - |
| RNA5SP92 | - | - |
| RNA5SP95 | - | - |
| RNASE1 | - | 14q11.2 |
| RNASE10 | - | 14q11.2 |
| RNASE11 | - | 14q11.2 |
| RNASE12 | - | 14q11.1 |
| RNASE13 | - | 14q11.1 |
| RNASE2 | RNA catabolic process; chemotaxis | 14q24-q31 |
| RNASE3 | RNA catabolic process; defense response to bacterium | 14q24-q31 |
| RNASE4 | mRNA cleavage | 14q11 |
| RNASE6 | RNA catabolic process; defense response | 14q11.2 |
| RNASE7 | innate immune response; defense response to bacterium; response to bacterium | 14q11.2 |
| RNASEH1 | RNA catabolic process; mitochondrial DNA replication | 2p25 |
| RNASEH1-AS1 | - | 2p25 |
| RNASEH1P1 | - | 17p11.2 |
| RNASEH2A | RNA catabolic process; DNA replication | 19p13.2 |
| RNASEH2B | RNA catabolic process | 13q14.3 |
| RNASEH2C | RNA catabolic process | 11q13.1 |
| RNASEL | cytokine-mediated signaling pathway; type I interferon-mediated signaling pathway; defense response to virus; negative regulation of viral genome replication; protein phosphorylation; mRNA processing | 1q25 |
| RNASET2 | RNA catabolic process | 6q27 |
| RND1 | neuron remodeling; axon guidance; small GTPase mediated signal transduction; GTP catabolic process; actin filament organization; negative regulation of cell adhesion | 12q12 |
| RND2 | signal transduction; GTP catabolic process; small GTPase mediated signal transduction | 17q21 |
| RND3 | cell adhesion; GTP catabolic process; small GTPase mediated signal transduction; actin cytoskeleton organization | 2q23.3 |
| RNF10 | negative regulation of Schwann cell proliferation; positive regulation of myelination; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 12q24.31 |
| RNF103 | central nervous system development; protein ubiquitination; ER-associated protein catabolic process | 2p11.2 |
| RNF10P1 | - | - |
| RNF11 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 1p32 |
| RNF111 | positive regulation of transcription, DNA-dependent; protein ubiquitination; multicellular organismal development | 15q21 |
| RNF112 | - | 17p11.2 |
| RNF113A | - | Xq25-q26 |
| RNF114 | multicellular organismal development; spermatogenesis; cell differentiation | 20q13.13 |
| RNF115 | protein autoubiquitination | 1q21.1 |
| RNF11P2 | - | 20p12.1 |
| RNF121 | - | 11q13.4 |
| RNF122 | - | 8p12 |
| RNF123 | - | 3p24.3 |
| RNF125 | innate immune response; negative regulation of type I interferon production | 18q12.1 |
| RNF126 | - | 19p13.3 |
| RNF128 | negative regulation of cytokine biosynthetic process | Xq22.3 |
| RNF13 | protein autoubiquitination | 3q25.1 |
| RNF130 | apoptotic process; programmed cell death; protein ubiquitination | 5q35.3 |
| RNF133 | - | 7q31.32 |
| RNF135 | negative regulation of type I interferon production; protein ubiquitination; regulation of innate immune response; innate immune response; positive regulation of interferon-beta production | 17q11.2 |
| RNF138 | Wnt receptor signaling pathway | 18q12.1 |
| RNF139 | protein ubiquitination; negative regulation of cell proliferation; negative regulation of translation; regulation of protein ubiquitination; regulation of protein processing; regulation of ER to Golgi vesicle-mediated transport | 8q24 |
| RNF139-AS1 | - | 8q24.13 |
| RNF14 | protein ubiquitination; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; signal transduction; regulation of androgen receptor signaling pathway; positive regulation of transcription, DNA-dependent; response to estradiol stimulus; androgen receptor signaling pathway | 5q23.3-q31.1 |
| RNF141 | regulation of transcription, DNA-dependent | 11p15.4 |
| RNF144A | - | 2p25.2 |
| RNF144A-AS1 | - | 2p25.2 |
| RNF144B | positive regulation of anti-apoptosis; apoptotic process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 6p22.3 |
| RNF145 | - | 5q33.3 |
| RNF146 | Wnt receptor signaling pathway; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein autoubiquitination; protein K48-linked ubiquitination; positive regulation of canonical Wnt receptor signaling pathway | 6q22.1-q22.33 |
| RNF148 | - | 7q31.33 |
| RNF149 | - | 2q11.2 |
| RNF150 | - | 4q31.21 |
| RNF152 | protein K48-linked ubiquitination; apoptotic process | 18q21.33 |
| RNF157 | - | 17q25.1 |
| RNF157-AS1 | - | - |
| RNF165 | - | 18q21.1 |
| RNF166 | - | 16q24.3 |
| RNF167 | negative regulation of cell cycle; protein polyubiquitination | 17p13.2 |
| RNF168 | positive regulation of DNA repair; histone H2A K63-linked ubiquitination; chromatin modification; double-strand break repair; response to ionizing radiation | 3q29 |
| RNF169 | - | 11q13.4 |
| RNF17 | spermatid development; multicellular organismal development; spermatogenesis; cell differentiation | 13q12.12 |
| RNF170 | - | 8p11.21 |
| RNF175 | - | 4q31.3 |
| RNF180 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 5q12.3 |
| RNF181 | - | 2p11.2 |
| RNF182 | protein ubiquitination | 6p23 |
| RNF183 | - | 9q32 |
| RNF185 | autophagy | 22q12.2 |
| RNF187 | proteasomal ubiquitin-dependent protein catabolic process; positive regulation of cell proliferation; positive regulation of transcription, DNA-dependent; protein autoubiquitination; protein K48-linked ubiquitination | 1q42.13 |
| RNF19A | protein modification process; microtubule cytoskeleton organization | 8q22 |
| RNF19B | - | 1p35.1 |
| RNF2 | negative regulation of transcription from RNA polymerase II promoter; mitotic cell cycle; gastrulation with mouth forming second; regulation of transcription, DNA-dependent; anterior/posterior axis specification; histone ubiquitination; histone H2A monoubiquitination | 1q25.3 |
| RNF20 | protein polyubiquitination; regulation of transcription, DNA-dependent; ubiquitin-dependent protein catabolic process; histone monoubiquitination; chromatin modification; negative regulation of cell migration; histone H2B ubiquitination; positive regulation of transcription, DNA-dependent | 9q22 |
| RNF207 | - | 1p36.31 |
| RNF208 | - | 9q34.3 |
| RNF212 | - | 4p16.3 |
| RNF213 | ATP catabolic process; protein ubiquitination; protein autoubiquitination | 17q25.3 |
| RNF214 | - | 11q23.3 |
| RNF215 | - | 22q12.2 |
| RNF216 | interspecies interaction between organisms; regulation of defense response to virus by host; apoptotic process; regulation of interferon-beta production; proteasomal ubiquitin-dependent protein catabolic process; protein K48-linked ubiquitination | 7p22.1 |
| RNF216P1 | - | 7p22.1 |
| RNF217 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 6q22.31 |
| RNF217-AS1 | - | 6q22.33 |
| RNF219 | - | 13q31.1 |
| RNF219-AS1 | - | - |
| RNF220 | protein ubiquitination; protein autoubiquitination | 1p34.1 |
| RNF223 | - | 1p36.33 |
| RNF224 | - | 9q34.3 |
| RNF225 | - | 19q13.43 |
| RNF24 | - | 20p13 |
| RNF25 | positive regulation of NF-kappaB transcription factor activity; protein ubiquitination | 2q35 |
| RNF26 | - | 11q23 |
| RNF31 | CD40 signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; T cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; protein linear polyubiquitination; protein polyubiquitination | 14q11.2 |
| RNF32 | - | 7q36 |
| RNF34 | apoptotic process | 12q24.31 |
| RNF38 | - | 9p13 |
| RNF39 | - | 6p21.3 |
| RNF4 | proteasomal ubiquitin-dependent protein catabolic process; regulation of kinetochore assembly; regulation of spindle assembly; protein K6-linked ubiquitination; protein K11-linked ubiquitination; protein K48-linked ubiquitination; protein K63-linked ubiquitination; protein autoubiquitination; response to arsenic-containing substance; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; androgen receptor signaling pathway; regulation of transcription, DNA-dependent | 4p16.3 |
| RNF40 | histone H2B ubiquitination; chromatin modification; histone monoubiquitination; ubiquitin-dependent protein catabolic process | 16p11.2-p11.1 |
| RNF41 | regulation of reactive oxygen species metabolic process; protein ubiquitination; induction of apoptosis; apoptotic process; protein polyubiquitination | 12q13.13 |
| RNF43 | - | 17q22 |
| RNF44 | - | 5q35.2 |
| RNF5 | ER-associated misfolded protein catabolic process; protein K48-linked ubiquitination; cellular protein catabolic process; protein K63-linked ubiquitination | 6p21.3 |
| RNF5P1 | - | 8p11.22 |
| RNF6 | regulation of transcription, DNA-dependent; ubiquitin-dependent protein catabolic process; protein ubiquitination; negative regulation of axon extension; protein K27-linked ubiquitination; positive regulation of transcription, DNA-dependent; regulation of androgen receptor signaling pathway; protein K48-linked ubiquitination; protein K6-linked ubiquitination | 13q12.2 |
| RNF6P1 | - | - |
| RNF7 | response to redox state; protein neddylation; induction of apoptosis by oxidative stress; anti-apoptosis | 3q22-q24 |
| RNF8 | double-strand break repair; cell cycle; mitosis; response to ionizing radiation; chromatin modification; histone H2A ubiquitination; histone H2B ubiquitination; positive regulation of DNA repair; cell division | 6p21.3 |
| RNFT1 | - | 17q23.1 |
| RNFT2 | - | 12q24.22 |
| RNGTT | transcription from RNA polymerase II promoter; interspecies interaction between organisms; viral reproduction; gene expression; RNA processing; mRNA capping | 6q16 |
| RNH1 | mRNA catabolic process; regulation of angiogenesis | 11p15.5 |
| RNLS | - | 10q23.31 |
| RNMT | viral reproduction; gene expression; mRNA capping; transcription from RNA polymerase II promoter | 18p11.21 |
| RNMTL1 | RNA processing | 17p13.3 |
| RNPC3 | mRNA processing; RNA splicing | 1p21 |
| RNPC3P1 | - | 3p13 |
| RNPEP | aging; retina development in camera-type eye; negative regulation of blood pressure; leukotriene biosynthetic process; proteolysis | 1q32 |
| RNPEPL1 | proteolysis; leukotriene biosynthetic process | 2q37.3 |
| RNPS1 | transcription, DNA-dependent; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; mRNA 3'-end processing; termination of RNA polymerase II transcription; mRNA export from nucleus; gene expression; mRNA metabolic process; RNA metabolic process; RNA splicing | 16p13.3 |
| RNU1-15P | - | 7p15.3 |
| RNU1-17P | - | - |
| RNU1-18P | - | - |
| RNU1-19P | - | - |
| RNU1-20P | - | - |
| RNU1-21P | - | - |
| RNU1-24P | - | - |
| RNU1-28P | - | 14q13.1 |
| RNU105C | - | 8q11.23 |
| RNU11 | - | 1p35 |
| RNU12 | - | 22q13.2 |
| RNU2-5P | - | 9q21.12 |
| RNU2-6P | - | - |
| RNU2-7P | - | - |
| RNU4-2 | - | 12q24.31 |
| RNU4-4P | - | 3q26.31 |
| RNU4-6P | - | Xp22.2 |
| RNU4-7P | - | 6q25.1 |
| RNU4-9P | - | 13q12.11 |
| RNU4ATAC | - | 2q14.2 |
| RNU5A-1 | - | 15q22.31 |
| RNU5A-3P | - | - |
| RNU5A-4P | - | - |
| RNU5A-5P | - | - |
| RNU5A-6P | - | - |
| RNU5A-8P | - | - |
| RNU5B-2P | - | 3p22.1 |
| RNU5B-4P | - | 5q31.2 |
| RNU5D-1 | - | 1p34.1 |
| RNU5D-2P | - | - |
| RNU5E-10P | - | - |
| RNU5E-3P | - | - |
| RNU5E-4P | - | - |
| RNU5E-7P | - | - |
| RNU5E-9P | - | - |
| RNU5F-1 | - | 1p34.1 |
| RNU5F-3P | - | - |
| RNU5F-7P | - | - |
| RNU6-23P | - | - |
| RNU6-50P | - | Xp11.3 |
| RNU6-53P | - | - |
| RNU6-57P | - | - |
| RNU6-67P | - | - |
| RNU6-68P | - | - |
| RNU6-69P | - | - |
| RNU6-71P | - | - |
| RNU6-75P | - | - |
| RNU6-79P | - | - |
| RNU6-81P | - | - |
| RNU6-82P | - | - |
| RNU6-83P | - | - |
| RNU6ATAC | - | 9q34.2 |
| RNU6ATAC2P | - | 5q11.2 |
| RNU6ATAC3P | - | 17q21.32 |
| RNU6V | - | 1p13 |
| RNU7-1 | - | 12p13.31 |
| RNU7-15P | - | 5q31.1 |
| RNU7-20P | - | 7q36.1 |
| RNU7-37P | - | Xp11.22 |
| RNU7-41P | - | 14q13.2 |
| RNU7-46P | - | 2q11.2 |
| RNU7-47P | - | 3q23 |
| RNU7-54P | - | 7q32.1 |
| RNU7-64P | - | 2p11.2 |
| RNU7-69P | - | Xq25 |
| RNU7-6P | - | 20q13.2 |
| RNU7-73P | - | 3p22.2 |
| RNU7-78P | - | 1q25.1 |
| RNVU1-19 | - | 1q21.2 |
| RNVU1-8 | - | 1q21.1 |
| RNY1 | - | 7q36 |
| RNY1P5 | - | 13q22.1 |
| RNY1P8 | - | - |
| RNY3 | - | 7q36 |
| RNY3P10 | - | - |
| RNY3P3 | - | 13q22.3 |
| RNY3P4 | - | - |
| RNY3P5 | - | - |
| RNY3P7 | - | 13q22.3 |
| RNY3P9 | - | 13q14.11 |
| RNY4P13 | - | 17q11.2 |
| RNY4P19 | - | 2q36.3 |
| RNY4P20 | - | 6q25.1 |
| RNY4P23 | - | - |
| RNY4P24 | - | 13q14.3 |
| RNY4P25 | - | 1q21.3 |
| RNY4P6 | - | 11q23.3 |
| ROBO1 | negative regulation of chemokine-mediated signaling pathway; mammary duct terminal end bud growth; negative regulation of negative chemotaxis; positive regulation of axonogenesis; regulation of dendrite morphogenesis; Roundabout signaling pathway; negative regulation of mammary gland epithelial cell proliferation; cell differentiation; olfactory bulb interneuron development; chemorepulsion involved in postnatal olfactory bulb interneuron migration; axon midline choice point recognition; spinal cord development; cell migration involved in sprouting angiogenesis; activation of cysteine-type endopeptidase activity involved in apoptotic process; cell adhesion; homophilic cell adhesion; multicellular organismal development; nervous system development; axon guidance; negative regulation of cell proliferation | 3p12 |
| ROBO2 | apoptotic process involved in luteolysis; negative regulation of synapse assembly; negative regulation of negative chemotaxis; positive regulation of axonogenesis; cellular response to hormone stimulus; axon guidance; retinal ganglion cell axon guidance; cell differentiation; olfactory bulb interneuron development; axon midline choice point recognition; brain development; central nervous system development; multicellular organismal development; homophilic cell adhesion; ureteric bud development; metanephros development | 3p12.3 |
| ROBO3 | multicellular organismal development; neuron migration; nervous system development; axon guidance; axon midline choice point recognition; cell differentiation | 11q24.2 |
| ROBO4 | angiogenesis; multicellular organismal development; cell differentiation; regulation of cell migration | 11q24.2 |
| ROCK1 | smooth muscle contraction; cytokinesis; protein phosphorylation; apoptotic process; cellular component disassembly involved in apoptosis; regulation of cell motility; regulation of establishment of cell polarity; regulation of focal adhesion assembly; regulation of stress fiber assembly; leukocyte tethering or rolling; leukocyte migration; regulation of keratinocyte differentiation; negative regulation of neuron apoptosis; intracellular signal transduction; regulation of actin cytoskeleton organization; bleb assembly; regulation of cell adhesion; actin cytoskeleton organization; membrane to membrane docking; negative regulation of angiogenesis; axon guidance; Rho protein signal transduction; signal transduction; leukocyte cell-cell adhesion | 18q11.1 |
| ROCK1P1 | - | 18p11.32 |
| ROCK2 | regulation of establishment of cell polarity; regulation of cell motility; neural tube closure; cytokinesis; protein phosphorylation; smooth muscle contraction; axon guidance; positive regulation of centrosome duplication; negative regulation of angiogenesis; regulation of cell adhesion; regulation of actin cytoskeleton organization; intracellular signal transduction; regulation of keratinocyte differentiation; centrosome duplication; regulation of stress fiber assembly; regulation of focal adhesion assembly | 2p24 |
| ROGDI | hemopoiesis; positive regulation of cell proliferation | 16p13.3 |
| ROM1 | cell adhesion; visual perception | 11q13 |
| ROMO1 | positive regulation of reactive oxygen species metabolic process; replicative cell aging; positive regulation of cell proliferation; cellular response to reactive oxygen species; defense response to bacterium | 20q11.22 |
| ROPN1 | signal transduction | 3q21.1 |
| ROPN1B | cell-cell adhesion; Rho protein signal transduction; fusion of sperm to egg plasma membrane; acrosome reaction; sperm motility; signal transduction; spermatogenesis; cytokinesis | 3q21.2 |
| ROPN1L | signal transduction; ciliary or flagellar motility | 5p15.2 |
| ROR1 | transmembrane receptor protein tyrosine kinase signaling pathway | 1p32-p31 |
| ROR1-AS1 | - | - |
| ROR2 | Wnt receptor signaling pathway, calcium modulating pathway; positive regulation of canonical Wnt receptor signaling pathway; negative regulation of canonical Wnt receptor signaling pathway; Wnt receptor signaling pathway, planar cell polarity pathway; positive regulation of transcription, DNA-dependent; inner ear morphogenesis; embryonic genitalia morphogenesis; positive regulation of cell migration; cell differentiation; negative regulation of cell proliferation; multicellular organismal development; skeletal system development; cartilage condensation; somitogenesis; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; JNK cascade | 9q22 |
| RORA | positive regulation of transcription from RNA polymerase II promoter; cGMP metabolic process; regulation of macrophage activation; intracellular receptor mediated signaling pathway; gene expression; signal transduction; cerebellar Purkinje cell differentiation; nitric oxide biosynthetic process | 15q22.2 |
| RORB | eye photoreceptor cell development; response to stimulus; positive regulation of transcription, DNA-dependent; intracellular receptor mediated signaling pathway; gene expression; visual perception; multicellular organismal development; regulation of transcription, DNA-dependent | 9q22 |
| RORC | multicellular organismal development; gene expression; intracellular receptor mediated signaling pathway | 1q21 |
| ROS1 | columnar/cuboidal epithelial cell development; regulation of ERK1 and ERK2 cascade; regulation of TOR signaling cascade; cell differentiation; cell growth; regulation of phosphate transport; negative regulation of gene expression; cell proliferation; spermatogenesis; transmembrane receptor protein tyrosine kinase signaling pathway; protein phosphorylation | 6q22 |
| RP1 | photoreceptor cell maintenance; retinal rod cell development; retinal cone cell development; response to stimulus; retina morphogenesis in camera-type eye; cellular response to light stimulus; photoreceptor cell development; visual perception; phototransduction, visible light; cell projection organization; axoneme assembly; photoreceptor cell outer segment organization; intracellular signal transduction | 8q12.1 |
| RP1L1 | photoreceptor cell maintenance; cell projection organization; intracellular signal transduction; photoreceptor cell development; response to stimulus | 8p23.1 |
| RP2 | positive regulation of GTPase activity; cell morphogenesis; GTP biosynthetic process; UTP biosynthetic process; CTP biosynthetic process; protein folding; post-chaperonin tubulin folding pathway; visual perception; protein transport | Xp11.3 |
| RP9 | RNA splicing | 7p14.3 |
| RP9P | - | 7p14.3 |
| RPA1 | homeostasis of number of cells within a tissue; chromosome organization; telomere maintenance via semi-conservative replication; hemopoiesis; positive regulation of cell proliferation; meiosis; DNA recombination; double-strand break repair; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; DNA strand elongation involved in DNA replication; DNA-dependent DNA replication; DNA replication; in utero embryonic development; DNA recombinase assembly; double-strand break repair via homologous recombination; telomere maintenance; telomere maintenance via recombination; nucleotide-excision repair, DNA damage removal; mitotic cell cycle; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint | 17p13.3 |
| RPA2 | M/G1 transition of mitotic cell cycle; double-strand break repair; DNA recombination; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; regulation of double-strand break repair via homologous recombination; telomere maintenance via semi-conservative replication; transcription-coupled nucleotide-excision repair; DNA repair; DNA strand elongation involved in DNA replication; DNA-dependent DNA replication; DNA recombinase assembly; double-strand break repair via homologous recombination; telomere maintenance; telomere maintenance via recombination; DNA replication; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint; mitotic cell cycle; nucleotide-excision repair, DNA damage removal | 1p35 |
| RPA3 | telomere maintenance; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; M/G1 transition of mitotic cell cycle; mitotic cell cycle; nucleotide-excision repair, DNA damage removal; telomere maintenance via recombination; DNA strand elongation involved in DNA replication; DNA replication; DNA recombinase assembly; double-strand break repair via homologous recombination; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; nucleotide-excision repair, DNA gap filling; double-strand break repair; DNA recombination; telomere maintenance via semi-conservative replication | 7p22 |
| RPA4 | DNA replication involved in S phase; nucleotide-excision repair; DNA-dependent DNA replication initiation; mitotic cell cycle; DNA damage checkpoint; M/G1 transition of mitotic cell cycle; G1/S transition of mitotic cell cycle | Xq21.33 |
| RPAIN | DNA-dependent DNA replication; response to UV; protein import into nucleus; DNA repair; DNA recombination | 17p13.2 |
| RPAP1 | - | 15q15.1 |
| RPAP2 | dephosphorylation of RNA polymerase II C-terminal domain; snRNA transcription | 1p22.1 |
| RPAP3 | - | 12q13.11 |
| RPARP-AS1 | - | - |
| RPE | small molecule metabolic process; carbohydrate metabolic process; pentose-phosphate shunt | 2q32-q33.3 |
| RPE65 | response to stimulus; visual perception; vitamin A metabolic process | 1p31 |
| RPEL1 | - | 10q24.33 |
| RPEP2 | - | 3p24.2 |
| RPEP4 | - | - |
| RPF1 | rRNA processing | 1p22.3 |
| RPF2 | - | 6q21 |
| RPF2P1 | - | 20q11.22 |
| RPF2P2 | - | 4q26 |
| RPGR | visual perception; response to stimulus; cilium assembly; intracellular protein transport; cell projection organization | Xp21.1 |
| RPGRIP1 | visual perception; retina development in camera-type eye; response to stimulus; eye photoreceptor cell development | 14q11 |
| RPGRIP1L | specification of segmental identity, mandibular segment; cilium assembly; camera-type eye development; nose development; negative regulation of G-protein coupled receptor protein signaling pathway; pericardium development; head development; in utero embryonic development; kidney development; liver development; determination of left/right symmetry; specification of segmental identity, maxillary segment; brain development; regulation of smoothened signaling pathway; neural tube patterning; cerebellum development; lateral ventricle development; olfactory bulb development; corpus callosum development; limb morphogenesis; embryonic forelimb morphogenesis; embryonic hindlimb morphogenesis | 16q12.2 |
| RPH3A | intracellular protein transport | 12q24.13 |
| RPH3AL | glucose homeostasis; intracellular protein transport; exocytosis; regulation of calcium ion-dependent exocytosis; response to drug; negative regulation of G-protein coupled receptor protein signaling pathway; positive regulation of protein secretion | 17p13.3 |
| RPIA | pentose-phosphate shunt; carbohydrate metabolic process; metabolic process; pentose-phosphate shunt, non-oxidative branch; ribose phosphate metabolic process; small molecule metabolic process | 2p11.2 |
| RPIAP1 | - | 18q21.33 |
| RPL10 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation | Xq28 |
| RPL10A | SRP-dependent cotranslational protein targeting to membrane; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; viral reproduction; anatomical structure morphogenesis; gene expression | 6p21.31 |
| RPL10AP10 | - | 5q31.2 |
| RPL10AP12 | - | 16q24.1 |
| RPL10AP2 | - | 8q11.1 |
| RPL10AP3 | - | 8p12 |
| RPL10L | translation; spermatogenesis | 14q21.2 |
| RPL10P1 | - | 21q21.3 |
| RPL10P10 | - | 6p12.1 |
| RPL10P14 | - | 16q12.1 |
| RPL10P16 | - | 19p13.2 |
| RPL10P2 | - | 6p22.1 |
| RPL10P3 | - | 9q33.1 |
| RPL10P5 | - | 2q12.3 |
| RPL10P8 | - | 5q35.1 |
| RPL11 | translational termination; cellular protein metabolic process; ribosomal large subunit biogenesis; protein localization to nucleus; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; protein targeting; translational elongation; translational initiation; translation; rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 1p36.1-p35 |
| RPL11P5 | - | 12q24.31 |
| RPL12 | viral transcription; cellular protein metabolic process; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; translational termination; translational elongation; translational initiation; translation; SRP-dependent cotranslational protein targeting to membrane; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 9q34 |
| RPL12P1 | - | 6p21.32 |
| RPL12P10 | - | 7p15.3 |
| RPL12P11 | - | 20q12 |
| RPL12P13 | - | 1p36.11 |
| RPL12P2 | - | 6p21.2 |
| RPL12P21 | - | 5q31 |
| RPL12P26 | - | 10q25 |
| RPL12P3 | - | 20q11.21 |
| RPL12P33 | - | 12q24.31 |
| RPL12P34 | - | 13q21.33 |
| RPL12P37 | - | 17q25.3 |
| RPL12P38 | - | 17q23.2 |
| RPL12P40 | - | 18q12.2 |
| RPL12P41 | - | 19q13.32 |
| RPL12P42 | - | 19p13.2 |
| RPL12P8 | - | 10q21.3 |
| RPL13 | gene expression; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 16q24.3|17p11.2 |
| RPL13AP | - | 6p21.3 |
| RPL13AP11 | - | 1q32.1 |
| RPL13AP13 | - | 5q11.2 |
| RPL13AP16 | - | 7q22.3 |
| RPL13AP2 | - | 14q21.3 |
| RPL13AP20 | - | 12p13.1 |
| RPL13AP22 | - | 12p11.21 |
| RPL13AP23 | - | 12q13.3 |
| RPL13AP25 | - | 13q14.3 |
| RPL13AP3 | translation | 14q22.3 |
| RPL13AP6 | - | 10q25.2 |
| RPL13AP7 | - | 21q21.2 |
| RPL13AP8 | - | 1q32.1 |
| RPL13P | - | 6p21 |
| RPL13P14 | - | 20q13.12 |
| RPL13P2 | - | 20q13.12 |
| RPL13P5 | - | 12p13.31 |
| RPL13P6 | - | 14q32.32 |
| RPL13P7 | - | 1q25.2 |
| RPL14 | cellular protein metabolic process; ribosomal large subunit biogenesis; gene expression; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translation; rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translational initiation | 3p22-p21.2 |
| RPL14P1 | - | 12q14.2 |
| RPL14P3 | - | 4q31.1 |
| RPL14P5 | - | Xp22.33;Yp11.32 |
| RPL15 | viral infectious cycle; viral transcription; cellular protein metabolic process; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; translational termination; translational elongation; translational initiation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; SRP-dependent cotranslational protein targeting to membrane | 3p24.2 |
| RPL15P1 | - | 20p11.23 |
| RPL15P11 | - | 7q33 |
| RPL15P12 | - | 8q24.21 |
| RPL15P18 | - | 13q32.3 |
| RPL15P2 | - | 14q32.13 |
| RPL15P20 | - | 16p13.11 |
| RPL15P22 | - | 22q12.1 |
| RPL15P5 | - | 2q22.1 |
| RPL15P8 | - | 4q28.2 |
| RPL17 | gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process | 18q21 |
| RPL17P17 | - | 3p14.1 |
| RPL17P18 | - | 3q29 |
| RPL17P2 | - | 14q23.1 |
| RPL17P20 | - | 4q12 |
| RPL17P26 | - | 6p12.1 |
| RPL17P27 | - | 7q34 |
| RPL17P31 | - | 8q13.2 |
| RPL17P33 | - | 8p12 |
| RPL17P37 | - | 12q24.23 |
| RPL17P38 | - | 12q23.3 |
| RPL17P4 | - | 14q32.32 |
| RPL17P41 | - | 17q24.2 |
| RPL17P43 | - | 17p11.2 |
| RPL17P45 | - | 18q12.3 |
| RPL17P49 | - | Xp22.2 |
| RPL17P5 | - | 1p22.3 |
| RPL17P50 | - | 10q22.1 |
| RPL18 | cellular protein metabolic process; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation | 19q13 |
| RPL18A | viral reproduction; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 19p13 |
| RPL18AP10 | - | 7p14.1-p13 |
| RPL18AP11 | - | 9p24.1 |
| RPL18AP15 | - | Xq23 |
| RPL18AP16 | - | Xq28 |
| RPL18AP17 | - | - |
| RPL18AP3 | - | 12q23.3 |
| RPL18AP6 | - | 2p16.3 |
| RPL18AP7 | - | 3p22.2 |
| RPL18AP8 | - | 3q11.2 |
| RPL18P10 | - | 13q14 |
| RPL18P11 | - | 15q25.1 |
| RPL18P13 | - | 16q23.1 |
| RPL18P3 | - | 5q23.1 |
| RPL18P7 | - | 8q23.3 |
| RPL18P9 | - | 12p13.32 |
| RPL19 | translational elongation; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 17q12 |
| RPL19P10 | - | 5q34 |
| RPL19P11 | - | 5p13.3 |
| RPL19P12 | - | 7q22.1 |
| RPL19P14 | - | 8q22.2 |
| RPL19P20 | - | Xp11.3 |
| RPL19P21 | - | Xq28 |
| RPL19P3 | - | 1p31.3 |
| RPL19P4 | - | 2q21.1 |
| RPL19P8 | - | 4q34.3 |
| RPL21 | translational termination; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational elongation; translational initiation | 13q12.2 |
| RPL21P107 | - | 13q34 |
| RPL21P109 | - | 13q22 |
| RPL21P11 | - | 14q32.11 |
| RPL21P110 | - | 13q22.1 |
| RPL21P111 | - | 13q31.1 |
| RPL21P115 | - | 15q22 |
| RPL21P118 | - | 16q22.3 |
| RPL21P119 | - | 16p13.2 |
| RPL21P12 | - | 14q32.32 |
| RPL21P120 | - | 17p11.2 |
| RPL21P121 | - | 17p11.2 |
| RPL21P123 | - | 17p11.2 |
| RPL21P125 | - | 17p13.2 |
| RPL21P129 | - | 19p13 |
| RPL21P13 | - | 14q32.32 |
| RPL21P131 | - | 19q13.11 |
| RPL21P132 | - | Xq22 |
| RPL21P133 | - | Xq26 |
| RPL21P134 | - | Xq13.3 |
| RPL21P135 | - | - |
| RPL21P17 | - | 3p26.3 |
| RPL21P19 | - | 1q32.1 |
| RPL21P2 | - | 20p13 |
| RPL21P20 | - | 1p34.2 |
| RPL21P30 | - | 2p16.2 |
| RPL21P32 | - | 2q32.1 |
| RPL21P38 | - | 2q31.1 |
| RPL21P39 | - | 3q24 |
| RPL21P41 | - | 3p14.1 |
| RPL21P42 | - | 3q25.2 |
| RPL21P44 | - | 4q12 |
| RPL21P46 | - | 4p15.31 |
| RPL21P48 | - | 4q23 |
| RPL21P50 | - | 4q28.1 |
| RPL21P51 | - | 4q32.3 |
| RPL21P62 | - | 6p24.3 |
| RPL21P63 | - | 6p24.2 |
| RPL21P68 | - | 6p22.2 |
| RPL21P69 | - | 6q25.3 |
| RPL21P7 | - | 14q23.3 |
| RPL21P71 | - | 3q24 |
| RPL21P75 | - | 7p21.1 |
| RPL21P80 | - | 8p12 |
| RPL21P90 | - | 10q23.33 |
| RPL21P93 | - | 10p12.1 |
| RPL21P94 | - | 11p15 |
| RPL22 | alpha-beta T cell differentiation; translation; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 1p36.31 |
| RPL22L1 | translation | 3q26.2 |
| RPL22P11 | - | 2q13 |
| RPL22P18 | - | 10q23 |
| RPL22P19 | - | 12q24.31 |
| RPL22P2 | - | 14q24.3 |
| RPL22P22 | - | Xq21.1 |
| RPL22P3 | - | 1p36.13 |
| RPL22P8 | - | 2q12 |
| RPL23 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; viral infectious cycle; translation; translational initiation; translational elongation; translational termination; ribosomal protein import into nucleus; SRP-dependent cotranslational protein targeting to membrane; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; cellular protein metabolic process; viral transcription | 17q |
| RPL23A | RNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; cell proliferation | 17q11.2 |
| RPL23AP1 | - | 6p21.3 |
| RPL23AP12 | - | 21q22.2 |
| RPL23AP14 | - | 12p13.33 |
| RPL23AP18 | - | 1q32.3 |
| RPL23AP19 | - | 1p36.23 |
| RPL23AP21 | - | 1p36.33 |
| RPL23AP22 | - | 1q31.2 |
| RPL23AP23 | - | 1q43 |
| RPL23AP29 | - | 2q23.3 |
| RPL23AP3 | - | 21q22.2 |
| RPL23AP32 | - | 2p16.2 |
| RPL23AP36 | - | 2q33.2 |
| RPL23AP37 | - | 2p14 |
| RPL23AP38 | - | 3p26.3 |
| RPL23AP42 | - | 3q26.1 |
| RPL23AP43 | - | 3p22.3 |
| RPL23AP46 | - | 6q23.2 |
| RPL23AP49 | - | 3p12.3 |
| RPL23AP51 | - | 7p22 |
| RPL23AP53 | - | 8p23.3 |
| RPL23AP59 | - | 10q23-q25 |
| RPL23AP60 | - | 10q26.3 |
| RPL23AP63 | - | 11p11.2 |
| RPL23AP7 | - | 2q14 |
| RPL23AP76 | - | 17p12 |
| RPL23AP77 | - | 18q11.2 |
| RPL23AP80 | - | 19q13.33 |
| RPL23AP83 | - | Xp11.21 |
| RPL23P11 | - | 10p11.22 |
| RPL23P2 | - | 21q22.11 |
| RPL23P4 | - | 2q35 |
| RPL23P5 | - | 2q36.1 |
| RPL23P6 | - | 6p21.2 |
| RPL23P8 | - | 7p21.1 |
| RPL24 | viral reproduction; retina development in camera-type eye; cellular protein metabolic process; mitotic cell cycle G1/S transition checkpoint; retinal ganglion cell axon guidance; optic nerve development; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; gene expression; exit from mitosis; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; ribosomal large subunit assembly | 3q12 |
| RPL24P2 | - | 20p11.23 |
| RPL24P4 | - | 6p21.1 |
| RPL24P6 | - | 3q29 |
| RPL24P8 | - | 9q21.11 |
| RPL26 | SRP-dependent cotranslational protein targeting to membrane; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; rRNA processing; translation; translational initiation; translational termination; translational elongation; cellular protein metabolic process; ribosomal large subunit biogenesis; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression | 17p13 |
| RPL26L1 | RNA metabolic process; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation | 5q35.1 |
| RPL26P11 | - | 1q25.1 |
| RPL26P12 | - | 1q24.1 |
| RPL26P15 | - | 2p21 |
| RPL26P19 | - | 5q11.2 |
| RPL26P20 | - | 6q14.1 |
| RPL26P24 | - | 7q35 |
| RPL26P25 | - | 8p12 |
| RPL26P30 | - | 11p15.5 |
| RPL26P32 | - | 12q21.31 |
| RPL26P37 | - | Yp11.2 |
| RPL26P4 | - | 14q32.31 |
| RPL27 | cellular protein metabolic process; viral transcription; translational initiation; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 17q21 |
| RPL27A | viral transcription; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; cellular protein metabolic process | 11p15 |
| RPL27AP | - | 20q13.12 |
| RPL27AP2 | - | 1q23.2 |
| RPL27AP5 | - | 5q13.3 |
| RPL27AP6 | - | 6q25.2 |
| RPL27AP8 | - | 13q14.2 |
| RPL27P10 | - | 5p13.3 |
| RPL27P2 | - | 1q23.2 |
| RPL27P4 | - | 1p35.3 |
| RPL27P8 | - | 2q33.3 |
| RPL27P9 | - | 3p14.3 |
| RPL28P1 | - | 3q26.2 |
| RPL29 | translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; embryo implantation; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process | 3p21.3-p21.2 |
| RPL29P12 | - | 5p12 |
| RPL29P13 | - | 5p15.2 |
| RPL29P14 | - | 5q32 |
| RPL29P15 | - | 5q14.1 |
| RPL29P16 | - | 6p21.1 |
| RPL29P19 | - | 8q11.21 |
| RPL29P2 | - | 17p13 |
| RPL29P21 | - | 11p15.1 |
| RPL29P22 | - | 11q11 |
| RPL29P26 | - | 12q22 |
| RPL29P28 | - | 13q13.1 |
| RPL29P30 | - | 15q23 |
| RPL29P33 | - | 19q13.11 |
| RPL29P5 | - | 1p31.1 |
| RPL29P6 | - | 1p36.12 |
| RPL29P7 | - | 1q24.2 |
| RPL29P9 | - | 3q27.3 |
| RPL3 | cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 22q13 |
| RPL30 | viral transcription; cellular protein metabolic process; translation; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 8q22 |
| RPL30P1 | - | 1q25.1 |
| RPL30P13 | - | 12q12 |
| RPL30P14 | - | 18q21.33 |
| RPL30P4 | - | 3p22.3 |
| RPL30P7 | - | 5p15.2 |
| RPL31 | cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; SRP-dependent cotranslational protein targeting to membrane | 2q11.2 |
| RPL31P11 | - | 1q23.3 |
| RPL31P22 | - | 3q29 |
| RPL31P24 | - | 4q22 |
| RPL31P29 | - | 6q25.2 |
| RPL31P3 | - | 20p11-q11 |
| RPL31P35 | - | 7p11.2 |
| RPL31P37 | - | 7q31.32 |
| RPL31P4 | - | 14q23.1 |
| RPL31P40 | - | 8q13.2 |
| RPL31P41 | - | 8q13.1 |
| RPL31P43 | - | 9q31.2 |
| RPL31P46 | - | 11q13.4 |
| RPL31P47 | - | 11q24.1 |
| RPL31P49 | - | 12q24.11 |
| RPL31P51 | - | 12q13 |
| RPL31P56 | - | 16q11.2-q13 |
| RPL31P57 | - | 17q23.3 |
| RPL31P58 | - | 17q11 |
| RPL31P61 | - | 19q13.12 |
| RPL31P7 | - | 17q25.3 |
| RPL31P9 | - | 18q22.1 |
| RPL32 | viral infectious cycle; cellular protein metabolic process; viral transcription; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; SRP-dependent cotranslational protein targeting to membrane | 3p25-p24 |
| RPL32P1 | - | 6p21.3 |
| RPL32P17 | - | 7q36.1 |
| RPL32P20 | - | 8q24.22 |
| RPL32P21 | - | 9p13.2 |
| RPL32P22 | - | 9q32 |
| RPL32P25 | - | 11q21 |
| RPL32P26 | - | 12q14.1 |
| RPL32P27 | - | 12q13 |
| RPL32P28 | - | 13q21.31 |
| RPL32P3 | - | 3q21.3 |
| RPL32P33 | - | 17q24.3 |
| RPL32P36 | - | Xp11.4 |
| RPL32P7 | - | 3q12.3 |
| RPL32P9 | - | 3q25.1 |
| RPL34 | translational elongation; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 4q25 |
| RPL34-AS1 | - | 4q25 |
| RPL34P1 | - | 1q23-q24 |
| RPL34P15 | - | 6q26 |
| RPL34P18 | - | 8q22.1 |
| RPL34P27 | - | 13q12.12 |
| RPL34P31 | - | 17q11.1 |
| RPL34P34 | - | 19p12 |
| RPL34P6 | - | 1q32.1 |
| RPL35 | cellular protein metabolic process; translation; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 9q34.1 |
| RPL35A | cellular protein metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; rRNA processing; ribosomal large subunit biogenesis; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; viral reproduction | 3q29 |
| RPL35AP13 | - | 5q13.2 |
| RPL35AP17 | - | 5q32 |
| RPL35AP18 | - | 6q14 |
| RPL35AP20 | - | 9p24.1 |
| RPL35AP21 | - | 9q21.13 |
| RPL35AP30 | - | 12q24.23 |
| RPL35AP31 | - | 13q22 |
| RPL35AP32 | - | 15q22 |
| RPL35AP33 | - | 16q22.1 |
| RPL35AP35 | - | 17q11.2 |
| RPL35AP4 | - | 6p21 |
| RPL35P1 | - | 1q43 |
| RPL35P2 | - | 6p21.31 |
| RPL35P3 | - | 6q21 |
| RPL35P5 | - | 7q11.21 |
| RPL35P7 | - | 13q33.3 |
| RPL35P8 | - | 22q13.33 |
| RPL35P9 | - | - |
| RPL36 | translational elongation; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; cellular protein metabolic process; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral transcription | 19p13.3 |
| RPL36A | viral reproduction; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; gene expression; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process | Xq22.1 |
| RPL36AL | translation | 14q21 |
| RPL36AP13 | - | 2pter-p25.1 |
| RPL36AP21 | - | 5p15.1 |
| RPL36AP26 | - | 7p21.2 |
| RPL36AP33 | - | 9p13.3 |
| RPL36AP39 | - | 11p15.5 |
| RPL36AP40 | - | 11p14.3 |
| RPL36AP41 | - | 12q14.2 |
| RPL36AP42 | - | 14q |
| RPL36AP44 | - | 15q22.2 |
| RPL36AP48 | - | 17q24.2 |
| RPL36AP49 | - | 18p11.21 |
| RPL36AP5 | - | 6p21.1 |
| RPL36AP53 | - | Xq24 |
| RPL36AP7 | - | 17q25.1 |
| RPL36AP8 | - | 15q14 |
| RPL36AP9 | - | 1p34.1 |
| RPL36P16 | - | 19q13.2 |
| RPL36P18 | - | Xq23 |
| RPL36P20 | - | 3p22.1 |
| RPL36P4 | - | 20q11.2 |
| RPL36P8 | - | 4q21.1 |
| RPL37 | translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation | 5p13 |
| RPL37A | cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 2q35 |
| RPL37AP2 | - | 4q12 |
| RPL37AP7 | - | 11p14.1 |
| RPL37AP9 | - | 12p13.1 |
| RPL37P11 | - | 2p23 |
| RPL37P15 | - | 6q12-q13 |
| RPL37P17 | - | 9q34 |
| RPL37P2 | - | 11q13 |
| RPL37P22 | - | 17q12 |
| RPL37P23 | - | 19q13.41 |
| RPL37P8 | - | 1q44 |
| RPL37P9 | - | 1p36.31-p36.23 |
| RPL38 | mRNA metabolic process; cellular protein metabolic process; viral transcription; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; viral infectious cycle; SRP-dependent cotranslational protein targeting to membrane; gene expression; viral reproduction; RNA metabolic process | 17q25.1 |
| RPL38P2 | - | 2p12 |
| RPL39 | SRP-dependent cotranslational protein targeting to membrane; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; gene expression | Xq24 |
| RPL39L | translation; spermatogenesis | 3q27 |
| RPL39P | - | 20q13.2 |
| RPL39P13 | - | 1p22.1 |
| RPL39P16 | - | 2q13 |
| RPL39P21 | - | 5q13.3 |
| RPL39P26 | - | 11p15.2 |
| RPL39P29 | - | 13q34 |
| RPL39P3 | - | 6q13 |
| RPL39P33 | - | 17q22 |
| RPL39P35 | - | 19q13.41 |
| RPL39P36 | - | 19q13.41 |
| RPL39P5 | translation | 3q22.1 |
| RPL39P7 | - | 1p36.11 |
| RPL3L | mRNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; cellular protein metabolic process; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; gene expression; viral reproduction; RNA metabolic process; viral infectious cycle; viral transcription; translational initiation | 16p13.3 |
| RPL3P10 | - | 8p11.22 |
| RPL3P12 | - | Xq25 |
| RPL3P2 | - | 6p21.3 |
| RPL3P3 | - | 14q22.3 |
| RPL3P4 | - | 14q32.2 |
| RPL3P5 | - | 2q37.3 |
| RPL3P6 | - | 5q12.1 |
| RPL3P7 | - | 6q21 |
| RPL3P9 | - | 8q21.13 |
| RPL4 | cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 15q22 |
| RPL41 | viral transcription; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; cellular protein metabolic process; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation | 12q13 |
| RPL41P2 | - | 15q11-q13 |
| RPL4P1 | - | 14q11.2 |
| RPL4P2 | - | 1q24.1 |
| RPL4P3 | - | 1q24.3 |
| RPL4P4 | - | 3q27.2 |
| RPL4P5 | - | 9p24.1 |
| RPL4P6 | - | 22q13.2 |
| RPL5 | translational initiation; cellular protein metabolic process; ribosomal large subunit biogenesis; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translation; rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 1p22.1 |
| RPL5P1 | - | 15q11.2 |
| RPL5P11 | - | 4q34.1 |
| RPL5P14 | - | 5p13.3 |
| RPL5P15 | - | 5q13 |
| RPL5P20 | - | 6p22.3 |
| RPL5P21 | - | 6q22.33 |
| RPL5P22 | - | 8p21.1 |
| RPL5P24 | - | 8q22.3 |
| RPL5P26 | - | 10q22 |
| RPL5P28 | - | 10q26.3 |
| RPL5P29 | - | 11q12.1 |
| RPL5P3 | - | 15q23 |
| RPL5P30 | - | 11q23.3 |
| RPL5P31 | - | 13q14.3 |
| RPL5P33 | - | 17q21.33 |
| RPL5P34 | - | 22q13.2 |
| RPL5P35 | - | 22q13.33 |
| RPL5P4 | - | 1p34.3 |
| RPL5P5 | - | 1q25.3 |
| RPL5P6 | - | 1p22.2 |
| RPL5P9 | - | 2q13 |
| RPL6 | mRNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; regulation of transcription, DNA-dependent; translation; translational initiation; RNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; gene expression; viral reproduction | 12q24.1 |
| RPL6P10 | - | 4q13.1 |
| RPL6P12 | - | 4q32.3-q33 |
| RPL6P13 | - | 4q21.3 |
| RPL6P16 | - | 4q35.1 |
| RPL6P17 | - | 6p23 |
| RPL6P18 | - | 6p22.3 |
| RPL6P19 | - | 7q33 |
| RPL6P21 | - | 7p21.2 |
| RPL6P25 | - | 12q21.31 |
| RPL6P27 | - | 18p11.31 |
| RPL6P3 | - | 1q43 |
| RPL6P30 | - | Xp22.2 |
| RPL6P7 | - | 3q25.31 |
| RPL7 | RNA metabolic process; cellular protein metabolic process; ribosomal large subunit biogenesis; viral transcription; viral infectious cycle; mRNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 8q21.11 |
| RPL7A | RNA metabolic process; cellular protein metabolic process; ribosome biogenesis; viral transcription; viral infectious cycle; mRNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination | 9q34 |
| RPL7AP10 | - | 19p12 |
| RPL7AP11 | - | 3q13.33 |
| RPL7AP12 | - | 20p13 |
| RPL7AP14 | - | 20q11.2 |
| RPL7AP18 | - | 1p36.23 |
| RPL7AP2 | - | 14q21.1 |
| RPL7AP26 | - | 4q21.22 |
| RPL7AP27 | - | 4q35.2 |
| RPL7AP28 | - | 4q28.3 |
| RPL7AP29 | - | 4p16.2 |
| RPL7AP30 | - | 4q25 |
| RPL7AP31 | - | 4q12 |
| RPL7AP34 | - | 6q12 |
| RPL7AP36 | - | 6p24.3 |
| RPL7AP37 | - | 6q23.3 |
| RPL7AP38 | - | 7p15.2 |
| RPL7AP39 | - | 7q22.1 |
| RPL7AP4 | - | 14q22.3 |
| RPL7AP41 | - | 7p15.2 |
| RPL7AP42 | - | 7q31.1 |
| RPL7AP43 | - | 7q11.23 |
| RPL7AP44 | - | 9q31.2 |
| RPL7AP45 | - | 9p11.2 |
| RPL7AP46 | - | 9q13 |
| RPL7AP47 | - | 9p23 |
| RPL7AP50 | - | 10q21.3 |
| RPL7AP54 | - | 11q14.1 |
| RPL7AP58 | - | 11p14.1 |
| RPL7AP6 | - | 14q24.2 |
| RPL7AP60 | - | 12q24.13 |
| RPL7AP63 | - | 16q24.1 |
| RPL7AP66 | - | 18q12.2 |
| RPL7AP69 | - | 19q13.43 |
| RPL7AP7 | - | 6p21.3 |
| RPL7AP70 | - | 22q11.21 |
| RPL7AP71 | - | Xp11.22 |
| RPL7AP73 | - | - |
| RPL7AP8 | - | 10q23.2 |
| RPL7L1 | translation | 6p21.1 |
| RPL7L1P1 | - | 13q31.3 |
| RPL7L1P11 | - | Xq28 |
| RPL7L1P12 | - | - |
| RPL7L1P13 | - | 4q25 |
| RPL7L1P2 | - | - |
| RPL7L1P3 | - | 7q11.23 |
| RPL7L1P4 | - | 5q23.1 |
| RPL7L1P9 | - | 2q35 |
| RPL7P | - | 5q33.3 |
| RPL7P10 | - | 1p31.1 |
| RPL7P15 | - | 3q21.1-q21.2 |
| RPL7P16 | - | 3q22.1 |
| RPL7P17 | - | 4q21.1 |
| RPL7P18 | - | 5q15 |
| RPL7P2 | - | 20p13 |
| RPL7P20 | - | 5q34 |
| RPL7P22 | - | 5q13.2 |
| RPL7P23 | - | 5q13.3 |
| RPL7P24 | - | 5q14.1 |
| RPL7P26 | - | 6p22.3 |
| RPL7P27 | - | 6q14.3 |
| RPL7P29 | - | 6q14.3 |
| RPL7P3 | - | 20q13.33 |
| RPL7P31 | - | 7p14.3 |
| RPL7P32 | - | 7q31.1 |
| RPL7P35 | - | 10q25 |
| RPL7P37 | - | 10p11.21 |
| RPL7P39 | - | 12q14.3 |
| RPL7P4 | - | 6p21.33 |
| RPL7P40 | - | 12p12.3 |
| RPL7P42 | - | 12q15 |
| RPL7P43 | - | 12q21.2 |
| RPL7P44 | - | 13q22.3 |
| RPL7P45 | - | 13q33.2 |
| RPL7P46 | - | 16p13.13 |
| RPL7P48 | - | 17q21.33 |
| RPL7P49 | - | 17q25 |
| RPL7P52 | - | 22q13.1 |
| RPL7P54 | - | Xq21.1 |
| RPL7P55 | - | Xq21.32 |
| RPL7P56 | - | Xq26.3 |
| RPL7P58 | - | Xp21.3 |
| RPL7P6 | - | 12p12.3 |
| RPL7P7 | - | 1p36.23 |
| RPL7P8 | - | 1p13.3 |
| RPL7P9 | - | 1p21.3 |
| RPL8 | viral reproduction; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 8q24.3 |
| RPL8P2 | - | 21q22.11 |
| RPL9 | mRNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process; viral reproduction; RNA metabolic process; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 4p13 |
| RPL9P11 | - | 1p36.22 |
| RPL9P16 | - | 4q32.3 |
| RPL9P18 | - | 6q12 |
| RPL9P2 | - | 17p12 |
| RPL9P21 | - | 10q11.21 |
| RPL9P26 | - | 15q11.2-q12 |
| RPL9P28 | - | 17q21.32 |
| RPL9P3 | - | 14q13.2 |
| RPL9P31 | - | 18q21 |
| RPL9P32 | - | 19q12 |
| RPL9P5 | - | 14q23.1 |
| RPL9P7 | - | Xp22.1 |
| RPLP0 | mRNA metabolic process; interspecies interaction between organisms; cellular protein metabolic process; ribosome biogenesis; viral transcription; viral infectious cycle; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 12q24.2 |
| RPLP0P1 | - | 20p12.1 |
| RPLP0P10 | - | 15q15.1 |
| RPLP0P11 | - | 18q21.1 |
| RPLP0P2 | - | 11cen-q12 |
| RPLP0P3 | - | 14q13.2 |
| RPLP0P4 | - | 1q21.3 |
| RPLP0P5 | - | 1q41 |
| RPLP0P6 | ribosome biogenesis; translational elongation | 2p22.1 |
| RPLP0P7 | - | 2q24.1 |
| RPLP0P9 | - | 5q34 |
| RPLP1 | SRP-dependent cotranslational protein targeting to membrane; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; viral reproduction; gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translational termination; translation; translational initiation; translational elongation; RNA metabolic process | 15q22 |
| RPLP1P1 | - | 14q24.3 |
| RPLP1P13 | - | - |
| RPLP1P4 | - | 2q31.1 |
| RPLP1P6 | - | 5q33.1 |
| RPLP1P7 | - | 5q23.2 |
| RPLP1P8 | - | 6q23.3 |
| RPLP2 | gene expression; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 11p15.5 |
| RPLP2P1 | - | 6p22.1 |
| RPLP2P5 | - | 17q23.2 |
| RPN1 | gene expression; post-translational protein modification; cellular protein metabolic process; protein N-linked glycosylation via asparagine; protein glycosylation; SRP-dependent cotranslational protein targeting to membrane; protein modification process; translation | 3q21.3 |
| RPN2 | protein N-linked glycosylation via asparagine; cellular protein metabolic process; post-translational protein modification; gene expression; SRP-dependent cotranslational protein targeting to membrane; protein modification process; translation | 20q12-q13.1 |
| RPP14 | tRNA processing | 3p14.3 |
| RPP21 | response to drug; tRNA processing | 6p22.1 |
| RPP25 | tRNA processing | 15q24.2 |
| RPP25L | - | 9p13.3 |
| RPP30 | tRNA processing | 10q23.31 |
| RPP38 | tRNA processing | 10p13 |
| RPP40 | tRNA processing | 6p25.1 |
| RPP40P1 | - | - |
| RPPH1 | - | 14q11.2 |
| RPRD1A | dephosphorylation of RNA polymerase II C-terminal domain | 18q12.2 |
| RPRD1B | dephosphorylation of RNA polymerase II C-terminal domain | 20q11.21-q12 |
| RPRD2 | - | 1q21.3 |
| RPRM | cell cycle arrest; regulation of mitotic cell cycle | 2q23.3 |
| RPRML | regulation of mitotic cell cycle; cell cycle arrest | 17q21.32 |
| RPS10 | gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 6p21.31 |
| RPS10P10 | - | 3p14.2 |
| RPS10P13 | - | 6p21.31 |
| RPS10P14 | - | 7p14.1 |
| RPS10P16 | - | 8q24.11 |
| RPS10P17 | - | 9q33.3 |
| RPS10P18 | - | 10q26 |
| RPS10P2 | - | 20p12 |
| RPS10P21 | - | 13q21.33 |
| RPS10P23 | - | 16q23.1 |
| RPS10P26 | - | 17q23 |
| RPS10P27 | - | 18q11.2 |
| RPS10P28 | - | 19q13.2 |
| RPS10P29 | - | 22q11.23 |
| RPS10P3 | - | 9q22.1 |
| RPS10P30 | - | 22q11.23 |
| RPS10P31 | - | 22q13.31 |
| RPS10P5 | - | 20p13 |
| RPS10P7 | - | 1q32.1 |
| RPS10P8 | - | 1q23.1 |
| RPS11P1 | - | 20p12.2 |
| RPS11P2 | - | 1q43 |
| RPS11P5 | - | 12q24.33 |
| RPS11P6 | - | 12q14.2 |
| RPS11P7 | - | Xp11.4 |
| RPS12 | translational elongation; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; SRP-dependent cotranslational protein targeting to membrane; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translational termination; gene expression | 6q23.2 |
| RPS12P17 | - | 10q21.1 |
| RPS12P20 | - | 11q13 |
| RPS12P23 | - | 13q12.11 |
| RPS12P24 | - | 13q13.3 |
| RPS12P25 | - | 15q25.1 |
| RPS12P26 | - | 15q26.1 |
| RPS12P27 | - | 16q22.1 |
| RPS12P28 | - | 17p13.2 |
| RPS12P31 | - | 19q13.11 |
| RPS12P5 | - | 3p24.1 |
| RPS12P7 | - | 3q25.1 |
| RPS12P8 | - | 4q25 |
| RPS12P9 | - | 4q13.1 |
| RPS13 | viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; cellular protein metabolic process; negative regulation of RNA splicing | 11p15 |
| RPS13P2 | - | 1p32.3 |
| RPS13P5 | - | 2p23.3 |
| RPS13P7 | - | 15q21.3 |
| RPS14 | cellular protein metabolic process; maturation of SSU-rRNA; erythrocyte differentiation; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; regulation of translation; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; negative regulation of transcription from RNA polymerase II promoter; ribosomal small subunit assembly | 5q31-q33 |
| RPS14P3 | - | 1p36.13 |
| RPS14P4 | - | 2q13 |
| RPS15 | translational initiation; RNA metabolic process; viral reproduction; mRNA metabolic process; viral infectious cycle; viral transcription; ribosomal small subunit biogenesis; cellular protein metabolic process; SRP-dependent cotranslational protein targeting to membrane; translational termination; ribosomal small subunit export from nucleus; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; rRNA processing; translation; translational elongation; gene expression | 19p13.3 |
| RPS15A | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; positive regulation of cell cycle; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; response to virus; positive regulation of cell proliferation; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation | 16p |
| RPS15AP1 | - | 20p11.23 |
| RPS15AP10 | - | 1p34.1 |
| RPS15AP11 | - | 1p34.1 |
| RPS15AP12 | - | 1q41 |
| RPS15AP14 | - | 2q31.1 |
| RPS15AP17 | - | 4q13.1 |
| RPS15AP19 | - | 6p21.31 |
| RPS15AP23 | - | 7q31 |
| RPS15AP24 | - | 8p12 |
| RPS15AP25 | - | 8q13.2 |
| RPS15AP3 | - | 14q21.3 |
| RPS15AP30 | - | 10q25.2 |
| RPS15AP33 | - | 16p11 |
| RPS15AP34 | - | 16q21 |
| RPS15AP36 | - | 19qter |
| RPS15AP9 | - | 1p13.1 |
| RPS15P4 | - | 2q31.1 |
| RPS15P5 | - | 3p14.3 |
| RPS15P7 | - | 12p13 |
| RPS15P9 | - | 19p13.3 |
| RPS16 | SRP-dependent cotranslational protein targeting to membrane; cellular protein metabolic process; ribosomal small subunit biogenesis; translational termination; translational elongation; translational initiation; translation; rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression | 19q13.1 |
| RPS16P1 | - | 1p36.21 |
| RPS16P5 | - | 6p12.1 |
| RPS16P8 | - | 17q11.1 |
| RPS16P9 | - | 19q13.32 |
| RPS17 | viral infectious cycle; viral transcription; erythrocyte homeostasis; ribosomal small subunit biogenesis; cellular protein metabolic process; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; ribosomal small subunit assembly | 15q |
| RPS17P16 | - | 22q12.3 |
| RPS17P2 | - | 5q23.1 |
| RPS17P5 | - | 6p12.3 |
| RPS17P6 | - | 1q24.1 |
| RPS18 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; cellular protein metabolic process; ribosome biogenesis; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation | 6p21.3 |
| RPS18P10 | - | 6q24.1 |
| RPS18P11 | - | 8q13.3 |
| RPS18P12 | - | 17p12 |
| RPS18P9 | - | 6q25.1 |
| RPS19 | mRNA metabolic process; positive regulation of cellular component movement; anatomical structure development; cellular protein metabolic process; ribosomal small subunit biogenesis; erythrocyte differentiation; viral transcription; viral infectious cycle; rRNA processing; RNA metabolic process; viral reproduction; gas transport; gene expression; response to extracellular stimulus; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 19q13.2 |
| RPS19BP1 | - | 22q13.1 |
| RPS19P2 | - | 1p13.2 |
| RPS19P3 | - | 14q13.2 |
| RPS2 | viral infectious cycle; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; viral reproduction; RNA metabolic process; mRNA metabolic process; gene expression; viral transcription; cellular protein metabolic process | 16p13.3 |
| RPS20 | viral reproduction; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 8q12 |
| RPS20P1 | - | 21q22.12 |
| RPS20P14 | - | 3q27.3 |
| RPS20P16 | - | 5q15 |
| RPS20P17 | - | 5q35.3 |
| RPS20P23 | - | 8q22.3 |
| RPS20P24 | - | 9q21.12 |
| RPS20P26 | - | 11p11.2 |
| RPS20P27 | - | 11q14.1 |
| RPS20P32 | - | 13q12.13 |
| RPS20P34 | - | 15q21.1 |
| RPS20P4 | - | 5q33-qter |
| RPS20P6 | - | 1p21 |
| RPS20P7 | - | 1p31.1 |
| RPS21 | viral transcription; ribosomal small subunit biogenesis; cell differentiation; cellular protein metabolic process; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; translational termination; translational elongation; translational initiation; translation; endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA); endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; SRP-dependent cotranslational protein targeting to membrane | 20q13.3 |
| RPS21P2 | - | 2q12.2 |
| RPS21P4 | - | 4p15.32 |
| RPS23 | viral infectious cycle; cellular protein metabolic process; viral transcription; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; SRP-dependent cotranslational protein targeting to membrane | 5q14.2 |
| RPS23P2 | - | 4q28.3 |
| RPS23P4 | - | 4q31.22 |
| RPS23P7 | - | 17q23.2 |
| RPS23P8 | - | Xq13.1 |
| RPS24 | ribosomal small subunit biogenesis; erythrocyte homeostasis; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; rRNA processing; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; cellular protein metabolic process | 10q22 |
| RPS24P1 | - | Yq11.21 |
| RPS24P10 | - | 3p25 |
| RPS24P11 | - | 4p16.1 |
| RPS24P14 | - | 11p15.4 |
| RPS24P15 | - | 11p13 |
| RPS24P17 | - | 16q13 |
| RPS24P18 | - | 18q11.2 |
| RPS24P19 | - | Xq26.2 |
| RPS24P3 | - | 14q31.1 |
| RPS24P6 | - | 2q11.1 |
| RPS25 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; ribosomal small subunit assembly; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation | 11q23.3 |
| RPS25P2 | - | 1q32.2 |
| RPS25P4 | - | 3p21.1 |
| RPS25P6 | - | 5q23.1 |
| RPS25P7 | - | 6p25 |
| RPS25P8 | - | 9q33.2 |
| RPS26 | translational termination; cellular protein metabolic process; negative regulation of RNA splicing; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 12q13 |
| RPS26P1 | - | 21q22.12 |
| RPS26P10 | - | 8q21.3 |
| RPS26P11 | - | Xq13.1 |
| RPS26P13 | - | 1q32.2 |
| RPS26P2 | - | 9p21.1 |
| RPS26P21 | - | 3q13.33 |
| RPS26P22 | - | 3q13 |
| RPS26P26 | - | 5q13.3 |
| RPS26P3 | - | 9p23 |
| RPS26P30 | - | 7p15.3 |
| RPS26P32 | - | 7p15.3 |
| RPS26P33 | - | 7q21.3-q22.1 |
| RPS26P35 | - | 8q24.12 |
| RPS26P37 | - | 9q22.3 |
| RPS26P4 | - | 21q22.2 |
| RPS26P40 | - | 10q22.1 |
| RPS26P42 | - | 10q22 |
| RPS26P43 | - | 11q24.1 |
| RPS26P47 | - | 13q32.3 |
| RPS26P49 | - | 14q32.33 |
| RPS26P51 | - | 16p13.3 |
| RPS26P54 | - | 18q21.32 |
| RPS26P56 | - | Xq25 |
| RPS26P58 | - | Xp22.11 |
| RPS26P6 | - | 8q22.3 |
| RPS26P7 | - | 8q12.1 |
| RPS27 | translational initiation; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; cell proliferation; translational termination; translational elongation; translation; mitotic cell cycle; mitotic prometaphase; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; M phase of mitotic cell cycle; SRP-dependent cotranslational protein targeting to membrane | 1q21 |
| RPS27A | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; anti-apoptosis; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; DNA repair; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; apoptotic process; antigen processing and presentation of peptide antigen via MHC class I; toll-like receptor signaling pathway; mitotic cell cycle; M/G1 transition of mitotic cell cycle; protein polyubiquitination; activation of MAPK activity; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; cell cycle checkpoint; innate immune response; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; nucleotide-binding domain, leucine rich | 2p16 |
| RPS27AP1 | - | 17p13.1 |
| RPS27AP14 | - | 9p24.3 |
| RPS27AP17 | - | Xp22.31 |
| RPS27AP3 | - | 20q11.2 |
| RPS27AP5 | - | 1q31.2 |
| RPS27AP8 | - | 3q26.31 |
| RPS27L | DNA repair; positive regulation of anti-apoptosis; positive regulation of translation; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; mitotic cell cycle G1/S transition DNA damage checkpoint; translation; activation of cysteine-type endopeptidase activity involved in apoptotic process; response to DNA damage stimulus | 15q22.2 |
| RPS27P1 | - | 10q23.32 |
| RPS27P14 | - | 5q13.2 |
| RPS27P15 | - | 6q14-q15 |
| RPS27P16 | - | 7p15.1 |
| RPS27P21 | - | 12q12 |
| RPS27P22 | - | 12p12.1 |
| RPS27P23 | - | 12q23.2 |
| RPS27P27 | - | 16q21 |
| RPS27P29 | - | 19p12 |
| RPS27P3 | - | 12p13.32 |
| RPS27P8 | - | 1q32.1 |
| RPS28 | cellular protein metabolic process; ribosomal small subunit biogenesis; viral transcription; viral infectious cycle; translational elongation; mRNA metabolic process; RNA metabolic process; viral reproduction; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational initiation; translation; rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; gene expression | 19p13.2 |
| RPS28P1 | - | 14q23.2 |
| RPS28P3 | - | 1q42.13 |
| RPS28P4 | - | 2q37.1 |
| RPS28P5 | - | 2p13.1 |
| RPS28P7 | - | 11q14.1 |
| RPS28P8 | - | 13q14.11 |
| RPS29 | cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 14q |
| RPS29P12 | - | 5q35.3 |
| RPS29P13 | - | 6q22.1 |
| RPS29P16 | - | 7q22.1 |
| RPS29P2 | - | 8p11.21 |
| RPS29P20 | - | 11p15.4 |
| RPS29P28 | - | Xq21.33 |
| RPS29P4 | - | 1q24-q25 |
| RPS29P6 | - | 1p34.3 |
| RPS2P1 | - | 20q11.2 |
| RPS2P11 | - | 1p32.3 |
| RPS2P17 | - | 2p11.2 |
| RPS2P18 | - | 2q31.1 |
| RPS2P2 | - | 14q24.3 |
| RPS2P20 | - | 4q31.21 |
| RPS2P23 | - | 5q12 |
| RPS2P24 | - | 5q14.1 |
| RPS2P25 | - | 5q14.3 |
| RPS2P28 | - | 6p21.1 |
| RPS2P29 | - | 6p21.1 |
| RPS2P3 | - | 14q32.2 |
| RPS2P32 | - | 7p15.3 |
| RPS2P33 | - | 8q22.1 |
| RPS2P34 | - | 9q21.32 |
| RPS2P36 | - | 10q24.1 |
| RPS2P4 | - | 14q32.33 |
| RPS2P41 | - | 12q24.2 |
| RPS2P42 | - | 12p13.3-p13.2 |
| RPS2P44 | - | 16q12.1 |
| RPS2P45 | - | 16q22.1 |
| RPS2P47 | - | 17q21.32 |
| RPS2P48 | - | 17q22 |
| RPS2P49 | - | 17q21 |
| RPS2P5 | - | 12q24.23 |
| RPS2P50 | - | 17q12 |
| RPS2P6 | - | 18q22.2 |
| RPS2P9 | - | 1q32.1 |
| RPS3 | translation; negative regulation of DNA repair; cellular protein metabolic process; negative regulation of NF-kappaB transcription factor activity; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; response to DNA damage stimulus; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 11q13.3-q13.5 |
| RPS3AP10 | - | 1q24.1 |
| RPS3AP12 | - | 1p13.3-p13.1 |
| RPS3AP13 | - | 2q24.2 |
| RPS3AP14 | - | 3q21.2 |
| RPS3AP17 | - | 4p15.1 |
| RPS3AP18 | - | 4q31.3 |
| RPS3AP2 | - | 16p13.3 |
| RPS3AP20 | - | 5q14.1 |
| RPS3AP22 | - | 5q14.3 |
| RPS3AP25 | - | 7q21.3 |
| RPS3AP26 | - | 7q22.1 |
| RPS3AP3 | - | 20q11.2 |
| RPS3AP31 | - | 8p23.1 |
| RPS3AP32 | - | 8q21.11 |
| RPS3AP34 | - | 8p23.1 |
| RPS3AP35 | - | 8p23.1 |
| RPS3AP37 | - | 10q21 |
| RPS3AP43 | - | 12p13.31 |
| RPS3AP44 | - | 13q12.13 |
| RPS3AP47 | - | 15q15.2 |
| RPS3AP48 | - | 16p13.3 |
| RPS3AP49 | - | 18q21.32 |
| RPS3AP5 | - | 10q23.1 |
| RPS3AP6 | - | 15q21.3 |
| RPS3AP9 | - | 1q31.1 |
| RPS3P2 | - | 20q11.2 |
| RPS3P6 | - | 12q14.1 |
| RPS3P7 | - | 16q23.1 |
| RPS4X | viral infectious cycle; positive regulation of translation; cellular protein metabolic process; viral transcription; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; multicellular organismal development; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; positive regulation of cell proliferation | Xq13.1 |
| RPS4XP1 | - | 12q23.1 |
| RPS4XP10 | - | 8q22.1 |
| RPS4XP11 | - | 10p11.22 |
| RPS4XP12 | - | 11q23.3 |
| RPS4XP13 | - | 11q12.1 |
| RPS4XP14 | - | 12p13.33 |
| RPS4XP16 | - | 13q14.3 |
| RPS4XP17 | - | 17p13.3 |
| RPS4XP18 | - | 18q11.2 |
| RPS4XP19 | - | 18p11.22 |
| RPS4XP2 | - | 20p13 |
| RPS4XP21 | - | 19q13.11 |
| RPS4XP22 | - | 19p13.2 |
| RPS4XP3 | - | 20q13.31 |
| RPS4XP4 | - | 1p36.12 |
| RPS4XP5 | - | 2p15 |
| RPS4XP6 | - | 5p13.2 |
| RPS4XP7 | - | 6p23 |
| RPS4XP8 | - | 6q25.2 |
| RPS4XP9 | - | 6q22.32 |
| RPS4Y1 | translational termination; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; multicellular organismal development; SRP-dependent cotranslational protein targeting to membrane; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | Yp11.3 |
| RPS4Y1P1 | - | 16q23.1 |
| RPS4Y2 | translation | Yq11.223 |
| RPS5 | RNA metabolic process; viral reproduction; cellular protein metabolic process; gene expression; mRNA metabolic process; viral infectious cycle; viral transcription; translational initiation; SRP-dependent cotranslational protein targeting to membrane; regulation of translational fidelity; translational termination; translational elongation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation | 19q13.4 |
| RPS5P2 | - | 21q22.11 |
| RPS5P3 | - | 21q22.11 |
| RPS5P5 | - | 8q21.13 |
| RPS6 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; ribosomal small subunit assembly; erythrocyte development; cellular protein metabolic process; negative regulation of apoptotic process; positive regulation of apoptotic process; glucose homeostasis; ribosomal small subunit biogenesis; T cell differentiation in thymus; TOR signaling cascade; mitotic cell cycle G1/S transition checkpoint; oogenesis stage; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; gene expression; viral reproduction; placenta development; T cell proliferation involved in immune response; rRNA processing; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; activation-induced cell death of T cells; mitosis; gastrulation; insulin receptor signaling pathway | 9p21 |
| RPS6KA1 | toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; negative regulation of apoptotic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of translation in response to stress; regulation of DNA-dependent transcription in response to stress; innate immune response; positive regulation of cell differentiation; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; stress-activated MAPK cascade; positive regulation of hepatic stellate cell activation; positive regulation of cell growth; Toll signaling pathway; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; response to stress; cell cycle; signal transduction; intracellular protein kinase | 1p |
| RPS6KA2 | TRIF-dependent toll-like receptor signaling pathway; positive regulation of apoptotic process; innate immune response; negative regulation of cell cycle; nerve growth factor receptor signaling pathway; stress-activated MAPK cascade; MyD88-independent toll-like receptor signaling pathway; intracellular signal transduction; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; negative regulation of cell proliferation; Toll signaling pathway; axon guidance; synaptic transmission; intracellular protein kinase cascade; signal transduction; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway | 6q27 |
| RPS6KA2-AS1 | - | 6q27 |
| RPS6KA2-IT1 | - | - |
| RPS6KA3 | central nervous system development; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; response to lipopolysaccharide; positive regulation of cell growth; Toll signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; negative regulation of apoptotic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; stress-activated MAPK cascade; nerve growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell differentiation; innate immune response; regulation of translation in response to stress; regulation of DNA-dependent transcription in response to stress; synaptic transmission; axon guidance; skeletal system development; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; pro | Xp22.2-p22.1 |
| RPS6KA4 | histone phosphorylation; response to stress; inflammatory response; intracellular protein kinase cascade; axon guidance; positive regulation of CREB transcription factor activity; protein phosphorylation; positive regulation of histone acetylation; regulation of transcription, DNA-dependent; negative regulation of cytokine production; interleukin-1-mediated signaling pathway; positive regulation of histone phosphorylation; histone H3-S10 phosphorylation; histone H3-S28 phosphorylation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of NF-kappaB transcription factor activity | 11q11-q13 |
| RPS6KA5 | histone H3-S10 phosphorylation; toll-like receptor 2 signaling pathway; interleukin-1-mediated signaling pathway; stress-activated MAPK cascade; positive regulation of NF-kappaB transcription factor activity; nerve growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; innate immune response; histone H2A-S1 phosphorylation; MyD88-dependent toll-like receptor signaling pathway; histone H3-S28 phosphorylation; negative regulation of cytokine production; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; response to external stimulus; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; positive regulation of histone acetylation; histone phosphorylation; positive regulation of CREB transcription factor activity; positive regulation of histone phosphorylation; toll-like receptor 1 signaling pathway; Toll signaling pathway; axon guidance; i | 14q31-q32.1 |
| RPS6KA6 | negative regulation of mesoderm development; central nervous system development; axon guidance; synaptic transmission; negative regulation of embryonic development; negative regulation of ERK1 and ERK2 cascade; intracellular protein kinase cascade; signal transduction; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; protein phosphorylation | Xq21 |
| RPS6KB1 | positive regulation of smooth muscle cell migration; negative regulation of apoptotic process; response to drug; response to tumor necrosis factor; response to glucagon stimulus; response to testosterone stimulus; cellular response to hormone stimulus; response to insulin stimulus; response to lipopolysaccharide; TOR signaling cascade; cell migration; response to glucocorticoid stimulus; response to leucine; protein kinase B signaling cascade; response to ethanol; positive regulation of translation; positive regulation of mitotic cell cycle; positive regulation of translational initiation; regulation of glucose import; negative regulation of insulin receptor signaling pathway; phosphatidylinositol-mediated signaling; positive regulation of skeletal muscle tissue growth; positive regulation of smooth muscle cell proliferation; cellular response to growth factor stimulus; skeletal muscle atrophy; response to electrical stimulus involved in regulation of muscle adaptation; G1/S transition of mitotic cell cycle; | 17q23.1 |
| RPS6KB2 | protein kinase B signaling cascade; fibroblast growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; signal transduction; protein phosphorylation; translation; positive regulation of translational initiation; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling | 11q13.2 |
| RPS6KC1 | signal transduction | 1q41 |
| RPS6KL1 | - | 14q24.3 |
| RPS6P1 | - | 12p13.1 |
| RPS6P13 | - | 9q21.33 |
| RPS6P17 | - | 11q22.2 |
| RPS6P20 | - | 12q24.33 |
| RPS6P21 | - | 12q24.33 |
| RPS6P26 | - | Xq13.2 |
| RPS6P6 | - | 4q21.22 |
| RPS6P8 | - | 6q13 |
| RPS7 | translational elongation; SRP-dependent cotranslational protein targeting to membrane; translational termination; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral transcription; ribosomal small subunit biogenesis; cellular protein metabolic process; translation; rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translational initiation | 2p25 |
| RPS7P10 | - | 13q12.11 |
| RPS7P11 | - | 17q21.31 |
| RPS7P14 | - | Xq13.2 |
| RPS7P15 | - | 4p16.2 |
| RPS7P2 | - | 1q21 |
| RPS7P3 | - | 1q42.2 |
| RPS7P4 | - | 1p31.3 |
| RPS7P5 | - | 1q43 |
| RPS8 | viral infectious cycle; cellular protein metabolic process; viral transcription; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translation; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translational initiation | 1p34.1-p32 |
| RPS8P10 | - | 15q11.2 |
| RPS8P3 | - | 18q21.2 |
| RPS8P4 | - | 10q26.11 |
| RPS8P6 | - | 3p26.1 |
| RPS8P7 | - | 5q35.3 |
| RPS9 | translational termination; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; positive regulation of cell proliferation; SRP-dependent cotranslational protein targeting to membrane; regulation of translation; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 19q13.4 |
| RPS9P1 | - | 21q22.2 |
| RPS9P4 | - | 19q13.33 |
| RPSA | RNA metabolic process; rRNA export from nucleus; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; cell adhesion; gene expression; endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA); endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; ribosomal small subunit assembly; mRNA metabolic process; viral infectious cycle; viral transcription; viral reproduction; cellular protein metabolic process | 3p22.2 |
| RPSAP1 | - | 20q13.13 |
| RPSAP10 | - | 10p12.1 |
| RPSAP11 | - | 3p22.3 |
| RPSAP14 | - | Xq13.2 |
| RPSAP15 | - | Xq21.31 |
| RPSAP18 | - | 1q23.2 |
| RPSAP19 | - | 1p21.1 |
| RPSAP2 | - | 6p22.1 |
| RPSAP25 | - | 2q31.1 |
| RPSAP26 | - | 2p15 |
| RPSAP29 | - | 3q13.13 |
| RPSAP33 | - | 3q26.2 |
| RPSAP4 | - | 14q32.13 |
| RPSAP41 | - | 6q13 |
| RPSAP45 | - | 6q21 |
| RPSAP46 | - | 7q22.1 |
| RPSAP47 | - | 8q21.13 |
| RPSAP51 | - | 12p13.31 |
| RPSAP52 | - | 12q14.3 |
| RPSAP53 | - | 13q21.32 |
| RPSAP54 | - | 13q12.11 |
| RPSAP55 | - | 15q21.3 |
| RPSAP56 | - | 16q22.3 |
| RPSAP57 | - | 18q21.2 |
| RPSAP58 | - | 19p12 |
| RPSAP59 | - | Xq22.1-q22.3 |
| RPSAP63 | - | Xq26.2 |
| RPSAP64 | - | - |
| RPSAP8 | - | Xq22.1 |
| RPSAP9 | - | 9q21.13 |
| RPTN | - | 1q21.3 |
| RPTOR | TOR signaling cascade; cell growth; cell cycle arrest; insulin receptor signaling pathway; regulation of cell size; cellular response to nutrient levels; positive regulation of protein serine/threonine kinase activity; positive regulation of TOR signaling cascade; regulation of phosphorylation; positive regulation of transcription from RNA polymerase III promoter; positive regulation of endothelial cell proliferation; cellular response to amino acid stimulus | 17q25.3 |
| RPUSD1 | pseudouridine synthesis | 16p13.3 |
| RPUSD2 | pseudouridine synthesis | 15q13.3 |
| RPUSD3 | pseudouridine synthesis | 3p25.3 |
| RPUSD4 | pseudouridine synthesis | 11q24.2 |
| RQCD1 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA poly(A) tail shortening; regulation of transcription, DNA-dependent; sex differentiation; gene expression; RNA metabolic process; mRNA metabolic process; cytokine-mediated signaling pathway | 2q35 |
| RRAD | GTP catabolic process; signal transduction; small GTPase mediated signal transduction; negative regulation of cell growth | 16q22 |
| RRAGA | virus-host interaction; apoptotic process; cell death; cellular response to amino acid stimulus; positive regulation of cytolysis; interspecies interaction between organisms; cellular protein localization; positive regulation of TOR signaling cascade | 9p22.1 |
| RRAGB | signal transduction; cellular response to amino acid stimulus; cellular protein localization; positive regulation of TOR signaling cascade | Xp11.21 |
| RRAGC | RNA splicing; cell growth; small GTPase mediated signal transduction; apoptotic process; transcription, DNA-dependent; GTP catabolic process; cellular response to amino acid stimulus; positive regulation of TOR signaling cascade; cellular protein localization | 1p34 |
| RRAGD | cellular response to amino acid stimulus; cellular protein localization; positive regulation of TOR signaling cascade | 6q15-q16 |
| RRAS | GTP catabolic process; signal transduction; Ras protein signal transduction; synaptic transmission; axon guidance; negative regulation of cell migration | 19q13.3-qter |
| RRAS2 | signal transduction; Ras protein signal transduction; cellular process; positive regulation of cell migration; GTP catabolic process | 11p15.2 |
| RRBP1 | protein transport; signal transduction; translation | 20p12 |
| RREB1 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; Ras protein signal transduction; multicellular organismal development; positive regulation of transcription, DNA-dependent | 6p25 |
| RRH | visual perception; G-protein coupled receptor signaling pathway; response to stimulus; protein-chromophore linkage; phototransduction | 4q25 |
| RRM1 | protein heterotetramerization; nucleobase-containing small molecule metabolic process; protein oligomerization; small molecule metabolic process; nucleobase-containing small molecule interconversion; deoxyribonucleotide biosynthetic process; DNA replication | 11p15.5 |
| RRM2 | nucleobase-containing small molecule interconversion; nucleobase-containing small molecule metabolic process; protein heterotetramerization; protein oligomerization; small molecule metabolic process; deoxyribonucleotide biosynthetic process; deoxyribonucleoside diphosphate metabolic process; DNA replication; mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle | 2p25-p24 |
| RRM2B | kidney development; response to oxidative stress; renal system process; DNA replication; mitochondrial DNA replication; DNA repair; nucleobase-containing small molecule metabolic process; small molecule metabolic process; negative regulation of apoptotic process; nucleobase-containing small molecule interconversion; deoxyribonucleotide biosynthetic process; deoxyribonucleoside diphosphate metabolic process; deoxyribonucleoside triphosphate metabolic process | 8q23.1 |
| RRM2P3 | - | Xp11.4 |
| RRN3 | gene expression; transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent | 16p12 |
| RRN3P1 | - | 16p12.2 |
| RRN3P2 | - | 16p11.2 |
| RRN3P3 | - | 16p12.2 |
| RRNAD1 | - | 1q23.1 |
| RRP1 | rRNA processing | 21q22.3 |
| RRP12 | - | 10q24.1 |
| RRP15 | - | 1q41 |
| RRP1B | negative regulation of phosphatase activity; rRNA processing | 21q22.3 |
| RRP36 | rRNA processing; ribosomal small subunit biogenesis | 6p21.1 |
| RRP7A | - | 22q13.2 |
| RRP7BP | - | 22q13.2 |
| RRP8 | rRNA processing; regulation of transcription, DNA-dependent; chromatin silencing at rDNA; chromatin modification; cellular response to glucose starvation; signal transduction by p53 class mediator resulting in induction of apoptosis; regulation of transcription by glucose; positive regulation of cell cycle arrest | 11p15.4 |
| RRP9 | rRNA processing | 3p21.2 |
| RRS1 | mitotic metaphase plate congression; ribosome biogenesis | 8q13.1 |
| RS1 | cell adhesion; multicellular organismal development; visual perception; response to stimulus | Xp22.13 |
| RSAD1 | porphyrin-containing compound biosynthetic process | 17q21.33 |
| RSAD2 | defense response to virus; regulation of ossification | 2p25.2 |
| RSBN1 | - | 1p13.2 |
| RSBN1L | - | 7q11.23 |
| RSC1A1 | negative regulation of transport; intestinal absorption; transport; regulation of transcription, DNA-dependent | 1p36.1 |
| RSF1 | nucleosome assembly; chromatin remodeling; transcription initiation, DNA-dependent; nucleosome positioning; CenH3-containing nucleosome assembly at centromere; negative regulation of DNA binding; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of viral transcription | 11q14.1 |
| RSG1 | protein transport; cilium assembly; cell projection organization; regulation of vesicle fusion; cellular protein localization; regulation of exocytosis; small GTPase mediated signal transduction | 1p36.13 |
| RSL1D1 | translation; regulation of protein localization | 16p13.13 |
| RSL24D1 | ribosome biogenesis; translation | 15q21 |
| RSL24D1P1 | - | 6p22.1 |
| RSL24D1P11 | - | 18q21.31 |
| RSL24D1P5 | - | 12q14.2 |
| RSL24D1P6 | - | 20q11 |
| RSL24D1P8 | - | - |
| RSPH1 | meiosis | 21q22.3 |
| RSPH10B2 | - | 7p22.1 |
| RSPH14 | - | 22q11.2 |
| RSPH3 | - | 6q25.3 |
| RSPH4A | cilium axoneme assembly; cilium movement | 6q22.1 |
| RSPH6A | - | 19q13.3 |
| RSPH9 | cilium movement; cilium axoneme assembly | 6p21.1 |
| RSPO1 | positive regulation of canonical Wnt receptor signaling pathway; response to stimulus; regulation of receptor internalization | 1p34.3 |
| RSPO2 | epithelial tube branching involved in lung morphogenesis; positive regulation of canonical Wnt receptor signaling pathway; osteoblast differentiation; embryonic forelimb morphogenesis; trachea cartilage morphogenesis; lung growth; bone mineralization; response to stimulus; Wnt receptor signaling pathway; embryonic hindlimb morphogenesis | 8q23.1 |
| RSPO3 | response to stimulus; canonical Wnt receptor signaling pathway; branching involved in embryonic placenta morphogenesis | 6q22.33 |
| RSPO4 | response to stimulus; Wnt receptor signaling pathway | 20p13 |
| RSPRY1 | - | 16q13 |
| RSRC1 | nuclear mRNA splicing, via spliceosome; protein phosphorylation; nucleocytoplasmic transport; RNA splicing; response to antibiotic; alternative nuclear mRNA splicing, via spliceosome | 3q25.32 |
| RSRC2 | - | 12q24.31 |
| RSRP1 | - | 1p36.13-p35.1 |
| RSU1 | cell junction assembly; signal transduction; Ras protein signal transduction | 10p13 |
| RSU1P1 | - | 10q11.21 |
| RSU1P2 | - | 10q11.21 |
| RSU1P3 | - | - |
| RTBDN | - | 19p12 |
| RTCA | RNA processing | 1p21.2 |
| RTCB | - | 22q12 |
| RTEL1 | telomere maintenance; regulation of double-strand break repair via homologous recombination; DNA repair; nucleobase-containing compound metabolic process | 20q13.3 |
| RTEL1P1 | - | - |
| RTF1 | regulation of transcription, DNA-dependent; transcription initiation, DNA-dependent; histone modification | 15q15.1 |
| RTFDC1 | - | 20q13.31 |
| RTKN | regulation of anti-apoptosis; Rho protein signal transduction; signal transduction; apoptotic process | 2p13.1 |
| RTKN2 | signal transduction; positive regulation of cell proliferation; hemopoiesis | 10q21.2 |
| RTL1 | multicellular organismal development | 14q32.2 |
| RTN1 | signal transduction; neuron differentiation | 14q23.1 |
| RTN2 | signal transduction | 19q13.32 |
| RTN3 | response to stress; interspecies interaction between organisms; apoptotic process; endoplasmic reticulum tubular network organization; vesicle-mediated transport | 11q13 |
| RTN3P1 | - | 4q31.21 |
| RTN4 | cardiac epithelial to mesenchymal transition; negative regulation of neuron projection regeneration; regulation of branching morphogenesis of a nerve; endoplasmic reticulum tubular network organization; negative regulation of neuron differentiation; negative regulation of anti-apoptosis; olfactory nerve development; cerebral cortex radial glia guided migration; negative regulation of cell growth; regulation of cell migration; negative regulation of axon extension; positive regulation of dopamine secretion; regulation of apoptotic process; apoptotic process; positive regulation of glial cell differentiation; nerve growth factor receptor signaling pathway; regulation of axon regeneration; oligodendrocyte differentiation; regulation of axonogenesis; negative regulation of axonogenesis; regulation of sensory perception of pain; angiogenesis; axonal fasciculation; aging; response to activity | 2p16.3 |
| RTN4IP1 | - | 6q21 |
| RTN4R | negative regulation of axonogenesis; regulation of axonogenesis; nerve growth factor receptor signaling pathway; axonogenesis | 22q11.21 |
| RTN4RL1 | axon regeneration | 17p13.3 |
| RTN4RL2 | axon regeneration | 11q12.1 |
| RTP1 | protein insertion into membrane | 3q27.3 |
| RTP3 | protein targeting to membrane; detection of chemical stimulus involved in sensory perception of bitter taste | 3p21.3 |
| RTP4 | protein targeting to membrane; detection of chemical stimulus involved in sensory perception of bitter taste | 3q27.3 |
| RTP5 | - | 2q37.3 |
| RTTN | multicellular organismal development; determination of left/right symmetry | 18q22.2 |
| RUBCN | negative regulation of autophagy; negative regulation of endocytosis | 3q29 |
| RUFY1 | endocytosis; protein transport | 5q35.3 |
| RUFY2 | - | 10q21.3 |
| RUFY3 | negative regulation of axonogenesis; cell differentiation; nervous system development; multicellular organismal development | 4q13.3 |
| RUFY4 | - | 2q35 |
| RUNDC1 | - | 17q21.31 |
| RUNDC3A | small GTPase mediated signal transduction | 17q21.31 |
| RUNDC3B | - | 7q21.12 |
| RUNX1 | positive regulation of transcription, DNA-dependent; positive regulation of angiogenesis; positive regulation of granulocyte differentiation; negative regulation of granulocyte differentiation; myeloid cell differentiation; hemopoiesis; positive regulation of transcription from RNA polymerase II promoter; peripheral nervous system neuron development; hemopoietic stem cell proliferation | 21q22.3 |
| RUNX1-IT1 | - | 21q22.12 |
| RUNX1T1 | generation of precursor metabolites and energy; regulation of transcription, DNA-dependent; fat cell differentiation; regulation of DNA binding | 8q22 |
| RUNX2 | ossification; osteoblast differentiation; regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 6p21 |
| RUNX3 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; protein phosphorylation; induction of apoptosis; negative regulation of cell cycle; peripheral nervous system neuron development; negative regulation of epithelial cell proliferation | 1p36 |
| RUSC1 | - | 1q21-q22 |
| RUSC1-AS1 | - | 1q22 |
| RUSC2 | - | 9p13.3 |
| RUVBL1 | cell cycle; cell division; histone H2A acetylation; histone H4 acetylation; regulation of growth; CenH3-containing nucleosome assembly at centromere; DNA duplex unwinding; chromatin modification; spermatogenesis; mitosis; DNA recombination; regulation of transcription from RNA polymerase II promoter; nucleosome assembly; DNA repair | 3q21 |
| RUVBL2 | cellular response to UV; regulation of growth; histone H4 acetylation; histone H2A acetylation; ATP catabolic process; DNA duplex unwinding; chromatin modification; protein folding; regulation of transcription, DNA-dependent; DNA recombination; DNA repair | 19q13.3 |
| RWDD1 | - | 6q13-q22.33 |
| RWDD2A | - | 6q14.2 |
| RWDD2B | - | 21q22.11 |
| RWDD3 | - | 1p21.3 |
| RWDD4 | - | 4q35.1 |
| RXFP1 | G-protein coupled receptor signaling pathway; lung connective tissue development; activation of adenylate cyclase activity by G-protein signaling pathway; parturition; cell differentiation; extracellular matrix organization; nipple morphogenesis | 4q32.1 |
| RXFP2 | negative regulation of apoptotic process; positive regulation of cAMP biosynthetic process; male gonad development; negative regulation of cell proliferation; inhibition of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; signal transduction; oocyte maturation | 13q13.1 |
| RXFP3 | elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; G-protein coupled receptor signaling pathway | 5p15.1-p14 |
| RXRA | negative regulation of transcription from RNA polymerase II promoter; response to nutrient; cardiac muscle cell proliferation; response to retinoic acid; axon regeneration; virus-host interaction; response to organic cyclic compound; gene expression; response to selenium ion; negative regulation of cell proliferation; cholesterol metabolic process; cellular response to insulin stimulus; aging; female pregnancy; heart development; midgut development; inflammatory response; vitamin metabolic process; placenta development; liver development; peroxisome proliferator activated receptor signaling pathway; ventricular cardiac muscle cell differentiation; ventricular cardiac muscle tissue morphogenesis; response to glucocorticoid stimulus; retinoic acid receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; response to ethanol; interspecies interaction between organisms; small molecule metabolic process; cellular lipid metabolic process; positive regulation of apoptotic proc | 9q34.3 |
| RXRB | cellular response to retinoic acid; regulation of transcription, DNA-dependent; intracellular receptor mediated signaling pathway; positive regulation of transcription from RNA polymerase II promoter; gene expression; retinoic acid receptor signaling pathway; ventricular cardiac muscle cell differentiation; cardiac muscle cell proliferation | 6p21.3 |
| RXRG | response to retinoic acid; peripheral nervous system development; heart development; skeletal muscle tissue development; gene expression; response to organic cyclic compound; neuron differentiation; retinoic acid receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; cellular response to hormone stimulus | 1q22-q23 |
| RYBP | regulation of transcription, DNA-dependent; apoptotic process; negative regulation of transcription from RNA polymerase II promoter; histone H2A monoubiquitination; multicellular organismal development | 3p13 |
| RYK | axon guidance; Wnt receptor signaling pathway; corpus callosum development; neuron differentiation; signal transduction; protein phosphorylation; commissural neuron axon guidance; negative chemotaxis; negative regulation of axon extension involved in axon guidance; skeletal system morphogenesis; positive regulation of MAPK cascade; neuron projection development | 3q22 |
| RYKP1 | - | 17p13.2 |
| RYR1 | cellular response to caffeine; outflow tract morphogenesis; ossification involved in bone maturation; skin development; response to caffeine; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; multicellular organismal development; muscle contraction; calcium ion transport; skeletal muscle fiber development; release of sequestered calcium ion into cytosol; cytosolic calcium ion homeostasis; regulation of calcium ion transport via voltage-gated calcium channel activity; transmembrane transport; calcium ion transmembrane transport; ion transport; response to hypoxia | 19q13.1 |
| RYR2 | ion transport; embryonic heart tube morphogenesis; cellular response to caffeine; calcium ion transmembrane transport; sarcoplasmic reticulum calcium ion transport; calcium ion transport into cytosol; canonical Wnt receptor signaling pathway; cardiac muscle contraction; transmembrane transport; response to redox state; cytosolic calcium ion homeostasis; release of sequestered calcium ion into cytosol; response to caffeine; BMP signaling pathway; calcium-mediated signaling; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; response to hypoxia; detection of calcium ion; calcium ion transport; cellular calcium ion homeostasis; multicellular organismal development; induction of apoptosis by ionic changes; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | 1q43 |
| RYR3 | cellular response to caffeine; cellular response to ATP; cellular response to magnesium ion; cellular response to calcium ion; calcium ion transmembrane transport; transmembrane transport; ion transport; calcium ion transport; cellular calcium ion homeostasis; striated muscle contraction; protein homotetramerization | 15q14-q15 |
| S100A1 | negative regulation of transcription from RNA polymerase II promoter; regulation of heart contraction; intracellular signal transduction | 1q21 |
| S100A10 | cellular response to acid; positive regulation of binding; signal transduction | 1q21 |
| S100A11 | signal transduction; negative regulation of DNA replication; negative regulation of cell proliferation | 1q21 |
| S100A11P1 | - | 7q22.1 |
| S100A11P2 | - | 7p14.2 |
| S100A12 | defense response to bacterium; xenobiotic metabolic process; inflammatory response; killing of cells of other organism; positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; defense response to fungus | 1q21 |
| S100A13 | response to electrical stimulus; positive regulation of cell proliferation; regulation of cell shape; protein transport; positive regulation of I-kappaB kinase/NF-kappaB cascade; mast cell degranulation; response to copper ion; cytokine secretion; interleukin-1 alpha secretion | 1q21 |
| S100A14 | toll-like receptor 4 signaling pathway; positive regulation of monocyte chemotaxis; positive regulation of granulocyte chemotaxis; calcium ion homeostasis; defense response to bacterium; response to lipopolysaccharide | 1q21.3 |
| S100A16 | response to calcium ion | 1q21 |
| S100A2 | endothelial cell migration | 1q21 |
| S100A3 | - | 1q21 |
| S100A4 | epithelial to mesenchymal transition; positive regulation of I-kappaB kinase/NF-kappaB cascade | 1q21 |
| S100A5 | - | 1q21 |
| S100A6 | signal transduction; axonogenesis; positive regulation of fibroblast proliferation | 1q21 |
| S100A7A | - | 1q21.3 |
| S100A7P2 | - | 1q21.3 |
| S100A8 | response to lipopolysaccharide; response to zinc ion; inflammatory response; chemotaxis; chronic inflammatory response; acute inflammatory response; response to ethanol; wound healing | 1q21 |
| S100A9 | inflammatory response; chronic inflammatory response; chemotaxis; response to ethanol; regulation of integrin biosynthetic process; response to lipopolysaccharide; actin cytoskeleton reorganization; leukocyte chemotaxis; response to zinc ion; cell-cell signaling; signal transduction | 1q21 |
| S100B | axonogenesis; central nervous system development; learning or memory; memory; cell proliferation; positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; regulation of neuronal synaptic plasticity | 21q22.3 |
| S100G | - | Xp22.2 |
| S100P | endothelial cell migration; response to organic substance | 4p16 |
| S100PBP | - | 1p35.1 |
| S100Z | - | 5q13.3 |
| S1PR1 | positive regulation of positive chemotaxis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of smooth muscle cell proliferation; positive regulation of Ras GTPase activity; endothelial cell differentiation; angiogenesis; cell adhesion; G-protein coupled receptor signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; brain development; transmission of nerve impulse; regulation of cell adhesion; neuron differentiation; positive regulation of cell migration; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; negative regulation of stress fiber assembly | 1p21 |
| S1PR2 | activation of MAPK activity; G-protein coupled receptor signaling pathway; behavior; positive regulation of cell proliferation | 19p13.2 |
| S1PR3 | cytokine production; inflammatory response; G-protein coupled receptor signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; elevation of cytosolic calcium ion concentration; positive regulation of cell proliferation; anatomical structure morphogenesis; regulation of interleukin-1 beta production | 9q22.1-q22.2 |
| S1PR4 | activation of adenylate cyclase activity by G-protein signaling pathway; G-protein coupled receptor signaling pathway; immune response; activation of phospholipase C activity; elevation of cytosolic calcium ion concentration | 19p13.3 |
| S1PR5 | - | 19p13.2 |
| SAA1 | platelet activation; neutrophil chemotaxis; innate immune response; positive regulation of cell adhesion; macrophage chemotaxis; lymphocyte chemotaxis; regulation of protein secretion; positive regulation of cytokine secretion; positive regulation of interleukin-1 secretion; negative regulation of inflammatory response; elevation of cytosolic calcium ion concentration; acute-phase response | 11p15.1 |
| SAA2 | - | 11p15.1-p14 |
| SAA3P | acute-phase response | 11p15.1 |
| SAA4 | acute-phase response | 11p15.1-p14 |
| SAAL1 | acute-phase response | 11p15.1 |
| SAC3D1 | cell cycle; mitosis; cell division | 11q13.1 |
| SACM1L | dephosphorylation; phosphatidylinositol dephosphorylation | 3p21.3 |
| SACS | negative regulation of inclusion body assembly; cell death; protein folding | 13q12 |
| SAE1 | protein modification process; positive regulation of catalytic activity; protein sumoylation; protein ubiquitination | 19q13.32 |
| SAFB | positive regulation of transcription from RNA polymerase II promoter; growth; intracellular estrogen receptor signaling pathway; regulation of transcription, DNA-dependent; chromatin organization; hormone metabolic process | 19p13.3-p13.2 |
| SAFB2 | regulation of transcription, DNA-dependent | 19p13.3 |
| SAG | signal transduction; cell surface receptor signaling pathway; visual perception; rhodopsin mediated phototransduction; rhodopsin mediated signaling pathway; response to stimulus | 2q37.1 |
| SAGE1 | - | Xq26 |
| SALL1 | inductive cell-cell signaling; negative regulation of smoothened signaling pathway; adrenal gland development; positive regulation of Wnt receptor signaling pathway; pituitary gland development; neural tube development; olfactory bulb interneuron differentiation; olfactory nerve development; forelimb morphogenesis; hindlimb morphogenesis; outer ear morphogenesis; embryonic digit morphogenesis; positive regulation of neuron differentiation; neural tube closure; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; gonad development; regulation of neural precursor cell proliferation; ureteric bud invasion; negative regulation of transcription from RNA polymerase II promoter; kidney epithelium development; olfactory bulb mitral cell layer development; limb development; embryonic digestive tract development; ureteric bud development; branching involved in ureteric bud morphogenesis; kidney dev | 16q12.1 |
| SALL1P1 | - | Xp11.23 |
| SALL2 | negative regulation of transcription from RNA polymerase II promoter; neural tube development; regulation of transcription, DNA-dependent | 14q11.1-q12 |
| SALL3 | regulation of transcription, DNA-dependent | 18q23 |
| SALL4 | negative regulation of transcription from RNA polymerase II promoter; in utero embryonic development; regulation of transcription, DNA-dependent; inner cell mass cell proliferation; neural tube closure; ventricular septum development; positive regulation of transcription from RNA polymerase II promoter; embryonic limb morphogenesis; neural tube development; tissue development; heart development | 20q13.2 |
| SALL4P1 | - | - |
| SALL4P2 | - | Xq26.1 |
| SALL4P6 | - | 3p22.1 |
| SALL4P7 | - | 14q23.1 |
| SAMD1 | - | 19p13.12 |
| SAMD10 | - | 20q13.33 |
| SAMD11 | - | 1p36.33 |
| SAMD12 | - | 8q24.12 |
| SAMD12-AS1 | - | 8q24.12 |
| SAMD13 | - | 1p31.1 |
| SAMD14 | - | 17q21.33 |
| SAMD15 | - | 14q24.3 |
| SAMD3 | - | 6q23.1 |
| SAMD4A | negative regulation of translation; positive regulation of translation | 14q22.2 |
| SAMD4B | - | 19q13.2 |
| SAMD5 | - | 6q24.3 |
| SAMD8 | sphingomyelin biosynthetic process; lipid metabolic process; sphingolipid metabolic process | 10q22.2 |
| SAMD9 | - | 7q21.2 |
| SAMD9L | - | 7q21.2 |
| SAMHD1 | immune response; regulation of innate immune response; defense response to virus | 20pter-q12 |
| SAMM50 | protein import into mitochondrial outer membrane | 22q13.31 |
| SAMSN1 | negative regulation of peptidyl-tyrosine phosphorylation; negative regulation of B cell activation; negative regulation of adaptive immune response | 21q11 |
| SAP130 | histone H3 acetylation; regulation of transcription, DNA-dependent | 2q14.3 |
| SAP18 | regulation of transcription from RNA polymerase II promoter | 13q12.11 |
| SAP25 | regulation of transcription, DNA-dependent | 7q22.1 |
| SAP30 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 4q34.1 |
| SAP30BP | regulation of transcription, DNA-dependent; apoptotic process; induction of apoptosis | 17q25.1 |
| SAP30L | regulation of transcription, DNA-dependent | 5q33.2 |
| SAPCD1 | - | 6p21.33 |
| SAPCD2 | - | 9q34.3 |
| SAR1A | vesicle-mediated transport; GTP catabolic process; intracellular protein transport; ER to Golgi vesicle-mediated transport | 10q22.1 |
| SAR1AP2 | - | 10q26.2 |
| SAR1AP3 | - | 4q27 |
| SAR1B | post-translational protein modification; COPII vesicle coating; protein N-linked glycosylation via asparagine; cellular protein metabolic process; vesicle-mediated transport; cellular membrane organization; ER to Golgi vesicle-mediated transport; intracellular protein transport; GTP catabolic process; antigen processing and presentation of peptide antigen via MHC class I | 5q31.1 |
| SARAF | - | 8p12 |
| SARDH | glycine catabolic process | 9q33-q34 |
| SARM1 | signal transduction; innate immune response | 17q11 |
| SARNP | regulation of transcription, DNA-dependent; regulation of translation | 12q13.2 |
| SARS | translation; tRNA aminoacylation for protein translation; seryl-tRNA aminoacylation; tRNA processing; gene expression | 1p13.3 |
| SARS2 | tRNA aminoacylation for protein translation; gene expression; seryl-tRNA aminoacylation | 19q13.2 |
| SART1 | RNA splicing; cell cycle arrest; nuclear mRNA splicing, via spliceosome; spliceosomal snRNP assembly; induction of apoptosis by intracellular signals; positive regulation of cytotoxic T cell differentiation | 11q13.1 |
| SART3 | RNA processing | 12q24.1 |
| SASH1 | - | 6q24.3 |
| SASH3 | positive regulation of adaptive immune response; positive regulation of immunoglobulin production; positive regulation of T cell proliferation; positive regulation of tumor necrosis factor production; positive regulation of interleukin-4 production; positive regulation of CD4-positive, alpha-beta T cell differentiation; positive regulation of organ growth; homeostasis of number of cells within a tissue; positive regulation of lymphocyte activation; positive regulation of interleukin-2 production; positive regulation of interleukin-10 production; positive regulation of interferon-gamma production; positive regulation of T cell cytokine production; positive regulation of B cell proliferation | Xq26 |
| SASS6 | cell cycle; centriole replication; centrosome duplication | 1p21.2 |
| SAT1 | small molecule metabolic process; regulation of cell proliferation; angiogenesis; polyamine metabolic process; polyamine biosynthetic process; cellular nitrogen compound metabolic process | Xp22.1 |
| SAT2 | - | 17p13.1 |
| SATB1 | chromatin organization; apoptotic process; negative regulation of transcription from RNA polymerase II promoter; interspecies interaction between organisms; chromatin modification; cellular component disassembly involved in apoptosis | 3p23 |
| SATB2 | multicellular organismal development; embryonic pattern specification; chromatin remodeling; osteoblast development; negative regulation of transcription from RNA polymerase II promoter; neuron migration; positive regulation of transcription from RNA polymerase II promoter; embryonic skeletal system morphogenesis; cartilage development; palate development | 2q33 |
| SATL1 | - | Xq21.1 |
| SAV1 | regulation of stem cell maintenance; regulation of organ growth; intestinal epithelial cell differentiation; lung epithelial cell differentiation; ventricular septum morphogenesis; negative regulation of cardiac muscle cell proliferation; hair follicle development; signal transduction; keratinocyte differentiation; hippo signaling cascade; positive regulation of apoptotic process; negative regulation of epithelial cell proliferation | 14q13-q23 |
| SAXO1 | - | 9p22.1 |
| SAXO2 | - | 15q25.2 |
| SAYSD1 | - | 6p21.2 |
| SBDS | bone marrow development; bone mineralization; mitotic spindle stabilization; inner cell mass cell proliferation; rRNA processing; cell proliferation; mature ribosome assembly; leukocyte chemotaxis; ribosomal large subunit biogenesis | 7q11.21 |
| SBDSP1 | - | 7q11.23 |
| SBF1 | protein dephosphorylation | 22q13.33 |
| SBF1P1 | - | 8q12.1 |
| SBF2 | myelination; regulation of catalytic activity; protein tetramerization | 11p15.4 |
| SBF2-AS1 | - | 11p15.4 |
| SBK1 | peptidyl-threonine phosphorylation; peptidyl-serine phosphorylation; brain development | 16p11.2 |
| SBK3 | - | 19q13.42 |
| SBNO1 | - | 12q24.31 |
| SBNO2 | regulation of inflammatory response; negative regulation of transcription, DNA-dependent; macrophage activation involved in immune response | 19p13.3 |
| SBSN | - | 19q13.13 |
| SBSPON | - | 8q21.11 |
| SC5D | - | 11q23.3 |
| SCAF1 | transcription from RNA polymerase II promoter; mRNA processing; RNA splicing | 19q13.3-q13.4 |
| SCAF11 | mRNA processing; RNA splicing; RNA splicing, via transesterification reactions; spliceosome assembly | 12q12 |
| SCAF4 | mRNA processing | 21q22.1 |
| SCAF8 | transcription from RNA polymerase II promoter; mRNA processing; RNA splicing | 6q25.1-q25.3 |
| SCAI | negative regulation of Rho protein signal transduction; negative regulation of cell migration; negative regulation of signal transduction; regulation of transcription, DNA-dependent | 9q33.3 |
| SCAMP1 | post-Golgi vesicle-mediated transport; protein transport | 5q14.1 |
| SCAMP2 | post-Golgi vesicle-mediated transport; protein transport | 15q23-q25 |
| SCAMP3 | endocytosis; response to chemical stimulus; response to retinoic acid; post-Golgi vesicle-mediated transport; protein transport | 1q21 |
| SCAMP4 | protein transport | 19p13.3 |
| SCAMP5 | negative regulation of endocytosis; positive regulation of calcium ion-dependent exocytosis; response to endoplasmic reticulum stress; protein transport; exocytosis; positive regulation of cytokine secretion | 15q24.2 |
| SCAND1 | viral reproduction; regulation of transcription, DNA-dependent | 20q11.1-q11.23 |
| SCAND2P | - | 15q25.2 |
| SCAP | positive regulation of low-density lipoprotein particle receptor biosynthetic process; steroid metabolic process; aging; positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway; response to hypoxia; negative regulation of cholesterol biosynthetic process; regulation of fatty acid biosynthetic process; response to insulin stimulus; cholesterol metabolic process | 3p21.31 |
| SCAPER | - | 15q24 |
| SCARA3 | UV protection; response to oxidative stress | 8p21 |
| SCARA5 | cellular response to heat; ion transport; protein homotrimerization; cellular iron ion homeostasis; endocytosis; iron ion transmembrane transport | 8p21.1 |
| SCARB1 | lipoprotein metabolic process; cholesterol import; triglyceride homeostasis; adhesion to symbiont; positive regulation of nitric-oxide synthase activity; regulation of phagocytosis; interspecies interaction between organisms; small molecule metabolic process; reverse cholesterol transport; recognition of apoptotic cell; blood vessel endothelial cell migration; cholesterol homeostasis; endothelial cell proliferation; wound healing; high-density lipoprotein particle clearance; low-density lipoprotein particle clearance; high-density lipoprotein particle remodeling; cholesterol efflux; detection of lipopolysaccharide; lipopolysaccharide-mediated signaling pathway; lipopolysaccharide transport; phospholipid transport; regulation of phosphatidylcholine catabolic process; positive regulation of triglyceride biosynthetic process; positive regulation of endothelial cell migration; cell adhesion; transport; cholesterol catabolic process; androgen biosynthetic process; lipid metabolic process; positive regulation of ch | 12q24.31 |
| SCARB2 | protein targeting to lysosome; cell adhesion | 4q21.1 |
| SCARF1 | cholesterol catabolic process; receptor-mediated endocytosis; cell adhesion; positive regulation of neuron projection development; positive regulation of axon regeneration; dendrite development; neuron remodeling | 17p13.3 |
| SCARF2 | cell adhesion | 22q11.21 |
| SCARNA1 | - | 1p35.3 |
| SCARNA10 | - | 12p13.31 |
| SCARNA11 | - | 12p13.31 |
| SCARNA14 | - | 15q22.31 |
| SCARNA15 | - | 15q25.2 |
| SCARNA17 | - | 18q21.1 |
| SCARNA2 | - | 1q13.1 |
| SCARNA21 | - | 17p13.1 |
| SCARNA22 | - | 4p16.3 |
| SCARNA27 | - | 6p24.3 |
| SCARNA3 | - | 1q25.1 |
| SCARNA4 | - | 1q22 |
| SCARNA5 | - | 2q37.1 |
| SCARNA6 | - | 2q37.1 |
| SCARNA7 | - | 3q25.22 |
| SCARNA8 | - | 9p22.1 |
| SCART1 | - | 10q26.3 |
| SCCPDH | - | 1q44 |
| SCD | fatty acid biosynthetic process | 10q24.31 |
| SCD5 | fatty acid biosynthetic process; oxidation-reduction process | 4q21.22 |
| SCDP1 | - | 17p11.2 |
| SCEL | epidermis development; embryo development; keratinocyte differentiation | 13q22 |
| SCFD1 | retrograde vesicle-mediated transport, Golgi to ER; vesicle docking involved in exocytosis; post-Golgi vesicle-mediated transport; response to hypoxia; regulation of ER to Golgi vesicle-mediated transport; response to toxin; protein transport; vesicle-mediated transport | 14q12 |
| SCFD2 | vesicle docking involved in exocytosis; protein transport; vesicle-mediated transport | 4q12 |
| SCG2 | protein secretion; MAPK cascade; angiogenesis; negative regulation of endothelial cell proliferation; positive regulation of endothelial cell proliferation; cellular component movement; inflammatory response; intracellular signal transduction; induction of positive chemotaxis; positive chemotaxis; eosinophil chemotaxis; endothelial cell migration; negative regulation of apoptotic process | 2q35-q36 |
| SCG3 | platelet activation; blood coagulation; platelet degranulation | 15q21 |
| SCG5 | regulation of hormone secretion; negative regulation of catalytic activity; peptide hormone processing; neuropeptide signaling pathway; transport; intracellular protein transport | 15q13-q14 |
| SCGB1A1 | negative regulation of interferon-gamma production; embryo implantation; female pregnancy; signal transduction; negative regulation of transcription from RNA polymerase II promoter; regulation of inflammatory response; regulation of mRNA stability; negative regulation of T cell proliferation; negative regulation of interleukin-5 production; negative regulation of interleukin-13 production; negative regulation of interleukin-4 production | 11q12.3 |
| SCGB1D1 | - | 11q13 |
| SCGB1D2 | - | 11q13 |
| SCGB2A1 | - | 11q13 |
| SCGB2B2 | - | 19q13.11 |
| SCGB2B3P | - | 19q13.11 |
| SCGB3A2 | - | 5q32 |
| SCGN | - | 6p22.3-p22.1 |
| SCHIP1 | - | 3q25.32-q25.33 |
| SCIMP | positive regulation of ERK1 and ERK2 cascade | 17p13.2 |
| SCIN | negative regulation of cell proliferation; actin filament severing; regulation of chondrocyte differentiation; positive regulation of apoptotic process; actin nucleation; calcium ion-dependent exocytosis; positive regulation of megakaryocyte differentiation; positive regulation of secretion; actin filament capping | 7p21.3 |
| SCLY | cellular amino acid metabolic process | 2q37.3 |
| SCMH1 | regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; gene silencing; anatomical structure morphogenesis; multicellular organismal development | 1p34 |
| SCML1 | anatomical structure morphogenesis; regulation of transcription, DNA-dependent | Xp22 |
| SCML2 | anatomical structure morphogenesis; regulation of transcription, DNA-dependent | Xp22 |
| SCML4 | regulation of transcription, DNA-dependent | 6q21 |
| SCN10A | transmembrane transport; sensory perception; sodium ion transport; ion transport | 3p22.2 |
| SCN11A | transmembrane transport; response to drug; sodium ion transport; ion transport | 3p22.2 |
| SCN1A | transmembrane transport; neuromuscular process controlling posture; regulation of action potential in neuron; neuronal action potential propagation; adult walking behavior; sodium ion transport; ion transport | 2q24.3 |
| SCN1B | positive regulation of sodium ion transport via voltage-gated sodium channel activity; membrane depolarization; regulation of membrane depolarization; ion transport; sodium ion transport; synaptic transmission; axon guidance; sodium ion transmembrane transport; positive regulation of action potential | 19q13.1 |
| SCN2A | transmembrane transport; myelination; nervous system development; apoptotic process; sodium ion transport; ion transport | 2q24.3 |
| SCN2B | ion transport; sodium ion transport; synaptic transmission; nervous system development; response to pyrethroid; positive regulation of sodium ion transport via voltage-gated sodium channel activity | 11q23 |
| SCN3A | ion transport; sodium ion transport; transmembrane transport | 2q24 |
| SCN3B | sensory perception of pain; membrane depolarization; positive regulation of sodium ion transport via voltage-gated sodium channel activity; positive regulation of action potential; axon guidance; nervous system development; sodium ion transport; ion transport | 11q23.3 |
| SCN4A | muscle contraction; transmembrane transport; sodium ion transport; ion transport | 17q23.3 |
| SCN4B | positive regulation of sodium ion transport via voltage-gated sodium channel activity; sodium ion transport; ion transport | 11q23.3 |
| SCN5A | cellular response to calcium ion; cardiac conduction; positive regulation of cardiac muscle contraction; regulation of cardiac muscle contraction; regulation of ventricular cardiomyocyte membrane depolarization; regulation of atrial cardiomyocyte membrane repolarization; regulation of atrial cardiomyocyte membrane depolarization; regulation of ventricular cardiomyocyte membrane repolarization; transmembrane transport; membrane depolarization; positive regulation of action potential; sodium ion transmembrane transport; blood circulation; sodium ion transport; ion transport; regulation of heart rate | 3p21 |
| SCN7A | ion transport; transmembrane transport; muscle contraction; sodium ion transport | 2q21-q23 |
| SCN8A | peripheral nervous system development; transmembrane transport; myelination; response to toxin; adult walking behavior; locomotory behavior; muscle organ development; axon guidance; nervous system development; sodium ion transport; ion transport | 12q13 |
| SCN9A | ion transport; sodium ion transport; transmembrane transport | 2q24 |
| SCNM1 | RNA splicing; mRNA processing | 1q21.3 |
| SCNN1A | ion transport; sodium ion transport; excretion; response to stimulus; sensory perception of taste | 12p13 |
| SCNN1B | excretion; wound healing, spreading of epidermal cells; response to stimulus; sensory perception of taste; sodium ion transport; ion transport; regulation of sodium ion transport; response to hypoxia | 16p12.2-p12.1 |
| SCNN1D | sodium ion transport; ion transport; response to stimulus; sensory perception of taste | 1p36.3-p36.2 |
| SCNN1G | sodium ion transmembrane transport; sensory perception of taste; response to stimulus; wound healing, spreading of epidermal cells; excretion; sodium ion transport; ion transport; response to hypoxia | 16p12 |
| SCO1 | generation of precursor metabolites and energy; copper ion transport; cellular copper ion homeostasis; respiratory chain complex IV assembly | 17p13.1 |
| SCO2 | respiratory electron transport chain; in utero embryonic development; muscle system process; copper ion transport; cellular copper ion homeostasis; respiratory chain complex IV assembly; response to activity; oxidation-reduction process | 22q13.33 |
| SCOC | - | 4q31.1 |
| SCOC-AS1 | - | 4q31.1 |
| SCOCP1 | - | - |
| SCP2 | small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; bile acid metabolic process; peroxisome organization; lipid transport; transport; bile acid biosynthetic process | 1p32 |
| SCP2D1 | - | 20p11.23 |
| SCPEP1 | retinoic acid metabolic process; proteolysis | 17q22 |
| SCRG1 | nervous system development | 4q34.1 |
| SCRIB | positive regulation of receptor recycling; cell migration; neural tube closure; protein localization to adherens junction; cell proliferation; multicellular organismal development; apoptosis involved in morphogenesis; cell differentiation; activation of Rac GTPase activity; establishment of apical/basal cell polarity; cell-cell adhesion; positive regulation of apoptotic process; interspecies interaction between organisms; negative regulation of mitotic cell cycle; positive chemotaxis; mammary gland duct morphogenesis | 8q24.3 |
| SCRN1 | proteolysis; exocytosis | 7p14.3-p14.1 |
| SCRN2 | proteolysis | 17q21.32 |
| SCRN3 | proteolysis | 2q31.1 |
| SCRT1 | regulation of transcription, DNA-dependent | 8q24.3 |
| SCTR | excretion; digestion; G-protein coupled receptor signaling pathway | 2q14.1 |
| SCUBE1 | inflammatory response; adult heart development; blood coagulation; post-embryonic development; endothelial cell differentiation; protein homooligomerization | 22q13 |
| SCUBE2 | - | 11p15.3 |
| SCUBE3 | protein heterooligomerization; protein homooligomerization | 6p21.3 |
| SCX | - | 8q24.3 |
| SCYL1 | regulation of transcription, DNA-dependent; retrograde vesicle-mediated transport, Golgi to ER; vesicle-mediated transport | 11q13 |
| SCYL2 | endosome to lysosome transport; negative regulation of canonical Wnt receptor signaling pathway; positive regulation of receptor internalization; positive regulation of clathrin-mediated endocytosis | 12q23.1 |
| SCYL3 | cell migration | 1q24.2 |
| SDAD1 | protein transport; ribosomal large subunit biogenesis | 4q21.1 |
| SDAD1P1 | - | 8p21.2 |
| SDAD1P2 | - | 20p12.2 |
| SDC1 | small molecule metabolic process; wound healing; canonical Wnt receptor signaling pathway; lipoprotein metabolic process; Sertoli cell development; striated muscle cell development; response to calcium ion; response to cAMP; response to glucocorticoid stimulus; myoblast development; response to hydrogen peroxide; response to toxin; lipid metabolic process; ureteric bud development; odontogenesis | 2p24.1 |
| SDC2 | response to hypoxia; response to caffeine; wound healing; dendrite morphogenesis | 8q22-q23 |
| SDC3 | cell adhesion | 1pter-p22.3 |
| SDC4 | positive regulation of focal adhesion assembly; ureteric bud development; positive regulation of protein kinase activity; positive regulation of stress fiber assembly | 20q12 |
| SDCBP | intracellular signal transduction; positive regulation of phosphorylation; positive regulation of JNK cascade; axon guidance; synaptic transmission; Ras protein signal transduction; substrate-dependent cell migration, cell extension; protein targeting to membrane; actin cytoskeleton organization | 8q12 |
| SDCBP2 | nervous system development; intracellular signal transduction; intracellular transport | 20p13 |
| SDCBP2-AS1 | - | - |
| SDCBPP1 | - | 10p15.1 |
| SDCBPP3 | - | Xp11.4 |
| SDCCAG3 | - | 9q34.3 |
| SDCCAG3P1 | - | 18q21.32 |
| SDCCAG8 | mitotic cell cycle; tube formation; G2/M transition of mitotic cell cycle; establishment of cell polarity | 1q43 |
| SDE2 | - | 1q42.12 |
| SDF2 | protein glycosylation | 17q11.2 |
| SDF2L1 | - | 22q11.21 |
| SDF4 | calcium ion-dependent exocytosis; cerebellum development; fat cell differentiation; response to ethanol; zymogen granule exocytosis; UV protection | 1p36.33 |
| SDHA | succinate metabolic process; tricarboxylic acid cycle; transport; nervous system development; respiratory electron transport chain; small molecule metabolic process; oxidation-reduction process | 5p15 |
| SDHAF1 | iron-sulfur cluster assembly; mitochondrial respiratory chain complex II assembly | 19q13.12 |
| SDHAF2 | mitochondrial electron transport, succinate to ubiquinone; protein-FAD linkage | 11q12.2 |
| SDHAF3 | regulation of gluconeogenesis | 7q21.3 |
| SDHAF4 | - | 6q13 |
| SDHAP1 | - | 3q29 |
| SDHAP3 | - | 5p15.33 |
| SDHB | transport; aerobic respiration; respiratory electron transport chain; small molecule metabolic process; tricarboxylic acid cycle; succinate metabolic process | 1p36.1-p35 |
| SDHC | transport; aerobic respiration; tricarboxylic acid cycle; respiratory electron transport chain; small molecule metabolic process; oxidation-reduction process | 1q23.3 |
| SDHCP2 | - | 10q23.32 |
| SDHD | transport; respiratory electron transport chain; small molecule metabolic process; tricarboxylic acid cycle | 11q23 |
| SDHDP3 | - | 3q26.3 |
| SDIM1 | neuron apoptosis; negative regulation of cell death; cellular response to stress | - |
| SDK1 | cell adhesion | 7p22.2 |
| SDK2 | cell adhesion | 17q25.1 |
| SDPR | - | 2q32-q33 |
| SDR16C5 | retinol metabolic process; retinal metabolic process; keratinocyte proliferation; detection of light stimulus involved in visual perception | 8q12.1 |
| SDR16C6P | - | 8q12.1 |
| SDR39U1 | - | 14q12 |
| SDR42E1 | steroid biosynthetic process | 16q23.3 |
| SDR9C7 | - | 12q13.3 |
| SDS | L-serine catabolic process; pyruvate biosynthetic process; cellular amino acid metabolic process; gluconeogenesis | 12q24.13 |
| SDSL | cellular amino acid metabolic process | 12q24.13 |
| SEC11A | cellular protein metabolic process; energy reserve metabolic process; translation; signal peptide processing; proteolysis; SRP-dependent cotranslational protein targeting to membrane; gene expression; small molecule metabolic process; regulation of insulin secretion | 15q25.3 |
| SEC11B | signal peptide processing; proteolysis | 8q11.23 |
| SEC11C | SRP-dependent cotranslational protein targeting to membrane; energy reserve metabolic process; translation; signal peptide processing; proteolysis; gene expression; cellular protein metabolic process; small molecule metabolic process; regulation of insulin secretion | 18q21.32 |
| SEC13 | COPII vesicle coating; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; vesicle-mediated transport; cellular membrane organization; ER to Golgi vesicle-mediated transport; intracellular protein transport; antigen processing and presentation of peptide antigen via MHC class I; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; mRNA transport | 3p25-p24 |
| SEC14L1 | transport | 17q25.2 |
| SEC14L1P1 | - | 11p11.2 |
| SEC14L2 | positive regulation of transcription, DNA-dependent; regulation of cholesterol biosynthetic process | 22q12.2 |
| SEC14L3 | - | 22q12.2 |
| SEC14L4 | - | 22q12.2 |
| SEC14L5 | - | 16p13.3 |
| SEC14L6 | - | 22q12.2 |
| SEC16A | protein transport; vesicle-mediated transport; COPII vesicle coating | 9q34.3 |
| SEC16B | COPII vesicle coating; vesicle-mediated transport; protein transport | 1q25.2 |
| SEC1P | - | 19q13.33 |
| SEC22A | ER to Golgi vesicle-mediated transport; protein transport; vesicle-mediated transport | 3q21.1 |
| SEC22B | vesicle-mediated transport; protein transport; ER to Golgi vesicle-mediated transport | 1q21.1 |
| SEC22C | ER to Golgi vesicle-mediated transport; protein transport; vesicle-mediated transport | 3p22.1 |
| SEC23A | COPII vesicle coating; post-translational protein modification; protein N-linked glycosylation via asparagine; ER to Golgi vesicle-mediated transport; cellular membrane organization; vesicle-mediated transport; cellular protein metabolic process; intracellular protein transport; antigen processing and presentation of peptide antigen via MHC class I | 14q21.1 |
| SEC23B | intracellular protein transport; ER to Golgi vesicle-mediated transport; vesicle-mediated transport | 20p11.23 |
| SEC23IP | Golgi organization; intracellular protein transport | 10q25-q26 |
| SEC24A | post-translational protein modification; COPII vesicle coating; protein N-linked glycosylation via asparagine; cellular protein metabolic process; vesicle-mediated transport; cellular membrane organization; antigen processing and presentation of peptide antigen via MHC class I; intracellular protein transport; ER to Golgi vesicle-mediated transport | 5q31.1 |
| SEC24B | antigen processing and presentation of peptide antigen via MHC class I; intracellular protein transport; ER to Golgi vesicle-mediated transport; cellular membrane organization; COPII vesicle coating; vesicle-mediated transport; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 4q25 |
| SEC24B-AS1 | - | 4q25 |
| SEC24C | vesicle-mediated transport; cellular protein metabolic process; post-translational protein modification; cellular membrane organization; ER to Golgi vesicle-mediated transport; intracellular protein transport; protein N-linked glycosylation via asparagine; antigen processing and presentation of peptide antigen via MHC class I; COPII vesicle coating | 10q22.2 |
| SEC24D | COPII vesicle coating; antigen processing and presentation of peptide antigen via MHC class I; intracellular protein transport; ER to Golgi vesicle-mediated transport; cellular membrane organization; post-translational protein modification; vesicle-mediated transport; cellular protein metabolic process; protein N-linked glycosylation via asparagine | 4q26 |
| SEC31A | post-translational protein modification; response to calcium ion; COPII vesicle coating; cellular protein metabolic process; endoplasmic reticulum unfolded protein response; protein N-linked glycosylation via asparagine; vesicle-mediated transport; cellular membrane organization; protein transport; activation of signaling protein activity involved in unfolded protein response; ER to Golgi vesicle-mediated transport; antigen processing and presentation of peptide antigen via MHC class I | 4q21.22 |
| SEC31B | vesicle-mediated transport; protein transport | 10q24.31 |
| SEC61A1 | protein targeting to ER; antigen processing and presentation of exogenous peptide antigen via MHC class I; response to interferon-gamma; protein transport; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I | 3q21.3 |
| SEC61A2 | protein transport; antigen processing and presentation of exogenous peptide antigen via MHC class I; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent | 10p14 |
| SEC61B | protein import into nucleus, translocation; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; translation; SRP-dependent cotranslational protein targeting to membrane; gene expression; cellular protein metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; retrograde protein transport, ER to cytosol; protein transport; ER-associated protein catabolic process | 9q22.32-q31.3 |
| SEC61G | protein targeting to ER; cellular protein metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; translation; SRP-dependent cotranslational protein targeting to membrane; gene expression | 7p11.2 |
| SEC62 | cotranslational protein targeting to membrane | 3q26.2 |
| SEC63 | protein targeting to membrane; protein folding; protein transport | 6q21 |
| SEC63P1 | - | - |
| SEC63P2 | - | - |
| SECISBP2 | translation | 9q22.2 |
| SECISBP2L | - | 15q21.1 |
| SECTM1 | positive regulation of I-kappaB kinase/NF-kappaB cascade; immune response; signal transduction; mesoderm development | 17q25 |
| SEH1L | mRNA transport; cell division; attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation; transmembrane transport; M phase of mitotic cell cycle; small molecule metabolic process; cytokine-mediated signaling pathway; viral reproduction; glucose transport; protein transport; regulation of glucose transport; hexose transport; mitotic metaphase plate congression; chromosome segregation; nuclear pore organization; carbohydrate metabolic process; mitotic cell cycle; mitotic prometaphase | 18p11.21 |
| SEL1L | Notch signaling pathway | 14q31 |
| SEL1L2 | - | 20p12.1 |
| SEL1L3 | - | 4p15.2 |
| SELE | regulation of inflammatory response; positive regulation of receptor internalization; response to interleukin-1; leukocyte tethering or rolling; response to tumor necrosis factor; response to lipopolysaccharide; actin filament-based process; calcium-mediated signaling; activation of phospholipase C activity; leukocyte cell-cell adhesion; heterophilic cell-cell adhesion; cell adhesion; inflammatory response; positive regulation of leukocyte migration; leukocyte migration involved in inflammatory response | 1q22-q25 |
| SELENBP1 | protein transport | 1q21.3 |
| SELK | - | 3p21.31 |
| SELL | cell adhesion; blood coagulation; leukocyte migration; regulation of immune response; response to ATP | 1q23-q25 |
| SELM | - | 22q12.2 |
| SELO | - | 22q13.33 |
| SELP | positive regulation of leukocyte migration; leukocyte migration; platelet degranulation; regulation of cellular extravasation; inflammatory response; cell adhesion; heterophilic cell-cell adhesion; leukocyte cell-cell adhesion; blood coagulation; positive regulation of platelet activation; response to organic cyclic compound; platelet activation; response to lipopolysaccharide; positive regulation of cell adhesion; blood vessel morphogenesis; defense response to Gram-negative bacterium; leukocyte tethering or rolling | 1q22-q25 |
| SELPLG | blood coagulation; leukocyte migration; cellular response to interleukin-6; leukocyte tethering or rolling; cell adhesion | 12q24 |
| SELT | - | 3q25.1 |
| SELV | - | 19q13.2 |
| SEMA3A | apoptotic process; regulation of axon extension involved in axon guidance; multicellular organismal development; nervous system development; axon guidance; axonal fasciculation; regulation of heart rate; negative regulation of epithelial cell migration; cell differentiation; negative chemotaxis; sensory system development; negative regulation of axon extension involved in axon guidance; semaphorin-plexin signaling pathway; dichotomous subdivision of terminal units involved in salivary gland branching; sympathetic nervous system development | 7p12.1 |
| SEMA3B | axon guidance; cell-cell signaling; multicellular organismal development | 3p21.3 |
| SEMA3C | limb bud formation; outflow tract morphogenesis; cardiac right ventricle morphogenesis; heart development; axon guidance; neural crest cell migration; somitogenesis; blood vessel remodeling; post-embryonic development; neural tube development; response to drug; dichotomous subdivision of terminal units involved in salivary gland branching; immune response; pulmonary myocardium development | 7q21-q31 |
| SEMA3D | cell differentiation; nervous system development; multicellular organismal development | 7q21.11 |
| SEMA3E | semaphorin-plexin signaling pathway; negative regulation of angiogenesis; regulation of cell shape; axon guidance; regulation of actin cytoskeleton reorganization; nervous system development; cell differentiation; multicellular organismal development; sprouting angiogenesis; patterning of blood vessels; negative regulation of cell-matrix adhesion; synapse organization | 7q21.11 |
| SEMA3F | negative chemotaxis; negative regulation of axon extension involved in axon guidance; axon guidance; multicellular organismal development; neural crest cell migration | 3p21.3 |
| SEMA3G | multicellular organismal development | 3p21.1 |
| SEMA4A | cell differentiation; nervous system development; axon guidance; multicellular organismal development | 1q22 |
| SEMA4B | multicellular organismal development; nervous system development; cell differentiation | 15q25 |
| SEMA4C | multicellular organismal development; semaphorin-plexin signaling pathway; muscle cell differentiation; neural tube closure; positive regulation of stress-activated MAPK cascade; cell migration in hindbrain; nervous system development | 2q11.2 |
| SEMA4D | nervous system development; cell adhesion; axon guidance; regulation of cell shape; negative regulation of alkaline phosphatase activity; multicellular organismal development; negative regulation of peptidyl-tyrosine phosphorylation; immune response; anti-apoptosis; positive regulation of protein phosphorylation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of phosphatidylinositol 3-kinase cascade; cell differentiation; positive regulation of cell migration; regulation of cell projection organization; positive regulation of Rho GTPase activity; ossification involved in bone maturation; negative regulation of osteoblast differentiation; semaphorin-plexin signaling pathway; leukocyte aggregation; trabecula morphogenesis; positive regulation of collateral sprouting; regulation of dendrite morphogenesis | 9q22.2 |
| SEMA4F | cell-cell signaling; multicellular organismal development; nervous system development; axon guidance; cell differentiation; negative regulation of axon extension; retinal ganglion cell axon guidance | 2p13.1 |
| SEMA4G | multicellular organismal development; nervous system development; cell differentiation | 10q24.31 |
| SEMA5A | signal transduction; patterning of blood vessels; cell adhesion; cell-cell signaling; multicellular organismal development; nervous system development; axon guidance; cell differentiation | 5p15.2 |
| SEMA5B | cell differentiation; multicellular organismal development; nervous system development | 3q21.1 |
| SEMA6A | apoptotic process; cytoskeleton organization; cell surface receptor signaling pathway; multicellular organismal development; organ morphogenesis; nervous system development; axon guidance; centrosome localization; cell differentiation | 5q23.1 |
| SEMA6B | multicellular organismal development; nervous system development; cell differentiation | 19p13.3 |
| SEMA6C | cell differentiation; multicellular organismal development; nervous system development | 1q21.2 |
| SEMA6D | multicellular organismal development; nervous system development; axon guidance; cell differentiation | 15q21.1 |
| SEMA7A | multicellular organismal development; positive regulation of ERK1 and ERK2 cascade; immune response; positive regulation of axon extension; axon guidance; cell differentiation; regulation of inflammatory response; positive regulation of macrophage cytokine production; nervous system development; integrin-mediated signaling pathway | 15q22.3-q23 |
| SENCR | - | - |
| SENP1 | induction of apoptosis by extracellular signals; protein desumoylation; activation of cysteine-type endopeptidase activity involved in apoptotic process; proteolysis | 12q13.1 |
| SENP2 | regulation of protein metabolic process; mRNA transport; negative regulation of protein binding; regulation of Wnt receptor signaling pathway; protein transport; dorsal/ventral axis specification; positive regulation of protein phosphorylation; protein desumoylation; proteolysis | 3q27.2 |
| SENP3 | proteolysis | 17p13 |
| SENP5 | cell division; cell cycle; proteolysis | 3q29 |
| SENP6 | regulation of kinetochore assembly; regulation of spindle assembly; protein modification by small protein removal; protein desumoylation; proteolysis | 6q13-q14.3 |
| SENP7 | proteolysis | 3q12 |
| SENP8 | proteolysis | 15q23 |
| SEP15 | - | 1p31 |
| SEPHS1 | protein modification process | 10p14 |
| SEPHS1P1 | - | 7q11.21 |
| SEPHS1P5 | - | - |
| SEPHS1P6 | - | 2q33.1 |
| SEPHS2 | selenocysteine biosynthetic process | 16p11.2 |
| SEPN1 | - | 1p36.13 |
| SEPP1 | response to oxidative stress | 5q31 |
| SEPSECS | oxidation-reduction process; selenocysteine incorporation; translation | 4p15.2 |
| SEPT1 | cell division; cell cycle | 16p11.1 |
| SEPT10 | cell cycle; cell division | 2q13 |
| SEPT10P1 | - | 8q12.1 |
| SEPT11 | cell cycle; cell division; protein heterooligomerization | 4q21.1 |
| SEPT12 | cell cycle; cell division | 16p13.3 |
| SEPT14 | cell cycle; cell division | 7p11.2 |
| SEPT2 | cell cycle; regulation of L-glutamate transport; cell division; regulation of protein localization; neuron projection development; mitosis | 2q37 |
| SEPT3 | cell cycle; cytokinesis | 22q13.2 |
| SEPT4 | sperm capacitation; positive regulation of intrinsic apoptotic signaling pathway; positive regulation of apoptotic process; regulation of apoptotic process; positive regulation of protein ubiquitination; sperm mitochondrion organization; cytokinesis; brain development; cell cycle; apoptotic process; GTP catabolic process | 17q22 |
| SEPT5 | synaptic vesicle targeting; regulation of exocytosis; cytokinesis; GTP catabolic process; cell cycle | 22q11.21 |
| SEPT5-GP1BB | - | 22q |
| SEPT6 | cell cycle; interspecies interaction between organisms; cytokinesis | Xq24 |
| SEPT7 | cilium morphogenesis; protein heterooligomerization; regulation of embryonic cell shape; cytokinesis; cell cycle; mitosis | 7p14.2 |
| SEPT7P2 | - | 7p12.3 |
| SEPT7P5 | - | - |
| SEPT7P6 | - | - |
| SEPT7P7 | - | 9q22.33 |
| SEPT7P9 | - | 10p11.1 |
| SEPT8 | cell cycle | 5q31 |
| SEPT9 | GTP catabolic process; cell division; protein heterooligomerization; cell cycle | 17q25 |
| SEPW1 | cell redox homeostasis | 19q13.3 |
| SERAC1 | GPI anchor metabolic process; extracellular matrix organization; intracellular protein transport | 6q25.3 |
| SERBP1 | regulation of mRNA stability; regulation of anti-apoptosis | 1p31 |
| SERBP1P1 | - | Xq13.1 |
| SERBP1P3 | - | 3p21.1 |
| SERBP1P5 | - | 4q21.21 |
| SERBP1P6 | - | - |
| SERF1AP1 | - | 4q28.3 |
| SERF1B | nervous system development | 5q13.2 |
| SERF2 | - | 15q15.3 |
| SERGEF | signal transduction; negative regulation of protein secretion | 11p14.3 |
| SERHL2 | - | 22q13 |
| SERINC1 | phosphatidylserine metabolic process; positive regulation of transferase activity; L-serine transport; lipid metabolic process; phospholipid biosynthetic process; sphingolipid metabolic process | 6q22.31 |
| SERINC2 | - | 1p35.1 |
| SERINC3 | induction of apoptosis | 20q13.12 |
| SERINC4 | lipid metabolic process; phospholipid biosynthetic process | 15q15.3 |
| SERINC5 | positive regulation of transferase activity; lipid metabolic process; phosphatidylserine metabolic process; phospholipid biosynthetic process | 5q14.1 |
| SERP1 | protein modification process; skeletal system development; glucose metabolic process; protein glycosylation; response to stress; activation of signaling protein activity involved in unfolded protein response; plasma membrane organization; post-embryonic development; multicellular organismal aging; protein transport; positive regulation of insulin secretion; positive regulation of translation; positive regulation of organ growth; muscle organ morphogenesis; positive regulation of growth hormone secretion; endoplasmic reticulum unfolded protein response | 3q25.1 |
| SERP2 | protein transport | 13q14.11 |
| SERPINA1 | response to chromate; response to estradiol stimulus; response to hypoxia; platelet degranulation; acute-phase response; inflammatory response; blood coagulation; response to lead ion; negative regulation of endopeptidase activity; response to organic cyclic compound; regulation of proteolysis; response to cytokine stimulus; response to triglyceride; response to methanol; response to lipopolysaccharide; platelet activation | 14q32.1 |
| SERPINA10 | tissue regeneration; negative regulation of endopeptidase activity; regulation of proteolysis; regulation of acrosome reaction | 14q32.13 |
| SERPINA11 | negative regulation of endopeptidase activity; regulation of proteolysis | 14q32.13 |
| SERPINA12 | regulation of proteolysis; negative regulation of endopeptidase activity | 14q32.13 |
| SERPINA2P | - | 14q32.13 |
| SERPINA3 | acute-phase response; maintenance of gastrointestinal epithelium; regulation of proteolysis; regulation of lipid metabolic process; negative regulation of endopeptidase activity; inflammatory response | 14q32.1 |
| SERPINA4 | negative regulation of endopeptidase activity; regulation of proteolysis | 14q32.13 |
| SERPINA5 | lipid transport; transport; spermatogenesis; fusion of sperm to egg plasma membrane; negative regulation of endopeptidase activity; regulation of proteolysis | 14q32.1 |
| SERPINA6 | transport; glucocorticoid metabolic process; negative regulation of endopeptidase activity; regulation of proteolysis | 14q32.1 |
| SERPINA7 | aging; post-embryonic development; negative regulation of endopeptidase activity; regulation of proteolysis; response to nutrient levels; response to vitamin A; response to prostaglandin E stimulus; response to drug; response to peptide hormone stimulus; response to steroid hormone stimulus; response to corticosterone stimulus | Xq22.2 |
| SERPINA9 | negative regulation of endopeptidase activity; regulation of proteolysis | 14q32.13 |
| SERPINB1 | negative regulation of endopeptidase activity; regulation of proteolysis | 6p25 |
| SERPINB10 | negative regulation of proteolysis; regulation of proteolysis; negative regulation of endopeptidase activity | 18q21.3 |
| SERPINB11 | regulation of proteolysis; negative regulation of endopeptidase activity | - |
| SERPINB13 | response to UV; negative regulation of endopeptidase activity; regulation of proteolysis | 18q21.33 |
| SERPINB2 | regulation of proteolysis; fibrinolysis; negative regulation of endopeptidase activity; blood coagulation; anti-apoptosis | 18q21.3 |
| SERPINB3 | regulation of proteolysis; negative regulation of endopeptidase activity | 18q21.3 |
| SERPINB4 | negative regulation of endopeptidase activity; regulation of proteolysis; immune response | 18q21.3 |
| SERPINB5 | extracellular matrix organization; regulation of epithelial cell proliferation; prostate gland morphogenesis; morphogenesis of an epithelium; cellular component movement; negative regulation of endopeptidase activity; regulation of proteolysis | 18q21.33 |
| SERPINB6 | negative regulation of endopeptidase activity; regulation of proteolysis | 6p25 |
| SERPINB7 | negative regulation of endopeptidase activity; regulation of proteolysis | 18q21.33 |
| SERPINB8 | negative regulation of endopeptidase activity; regulation of proteolysis | 18q22.1 |
| SERPINB9 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of proteolysis; negative regulation of endopeptidase activity; cellular response to estrogen stimulus; immune response; anti-apoptosis; mast cell mediated immunity | 6p25 |
| SERPINB9P1 | - | 6p25.2 |
| SERPINC1 | blood coagulation; negative regulation of endopeptidase activity; regulation of proteolysis; negative regulation of inflammatory response; response to nutrient | 1q25.1 |
| SERPIND1 | regulation of proteolysis; chemotaxis; blood coagulation; negative regulation of endopeptidase activity | 22q11.21 |
| SERPINE1 | blood coagulation; platelet degranulation; angiogenesis; chronological cell aging; response to reactive oxygen species; positive regulation of interleukin-8 production; negative regulation of plasminogen activation; negative regulation of cell migration; negative regulation of cell adhesion mediated by integrin; response to cytokine stimulus; positive regulation of leukotriene production involved in inflammatory response; tissue regeneration; negative regulation of blood coagulation; positive regulation of blood coagulation; negative regulation of smooth muscle cell-matrix adhesion; positive regulation of monocyte chemotaxis; cellular response to gravity; cellular response to lipopolysaccharide; cellular response to chemical stimulus; negative regulation of wound healing; negative regulation of vascular wound healing; response to hyperoxia; negative regulation of fibrinolysis; response to glucocorticoid stimulus; defense response to Gram-negative bacterium; positive regulation of inflammatory response; positi | 7q22.1 |
| SERPINE2 | negative regulation of proteolysis; nervous system development; multicellular organismal development; negative regulation of platelet aggregation; positive regulation of astrocyte differentiation; regulation of cell migration; negative regulation of blood coagulation; cell differentiation; negative regulation of protein processing; negative regulation of endopeptidase activity; negative regulation of plasminogen activation | 2q36.1 |
| SERPINE3 | regulation of proteolysis; negative regulation of endopeptidase activity | 13q14.3 |
| SERPINF1 | kidney development; negative regulation of epithelial cell proliferation involved in prostate gland development; multicellular organismal development; aging; short-term memory; cell proliferation; negative regulation of endopeptidase activity; negative regulation of angiogenesis; regulation of proteolysis; response to retinoic acid; negative regulation of inflammatory response; positive regulation of neurogenesis; response to glucocorticoid stimulus | 17p13.3 |
| SERPINF2 | positive regulation of smooth muscle cell proliferation; acute-phase response; platelet degranulation; regulation of blood vessel size by renin-angiotensin; blood coagulation; positive regulation of cell-cell adhesion mediated by cadherin; positive regulation of transforming growth factor beta production; positive regulation of ERK1 and ERK2 cascade; negative regulation of fibrinolysis; positive regulation of stress fiber assembly; blood vessel morphogenesis; positive regulation of JNK cascade; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell differentiation; fibrinolysis; positive regulation of collagen biosynthetic process; collagen fibril organization; platelet activation; regulation of proteolysis; negative regulation of endopeptidase activity; negative regulation of plasminogen activation; response to organic substance | 17p13 |
| SERPING1 | blood coagulation, intrinsic pathway; blood circulation; negative regulation of endopeptidase activity; platelet activation; blood coagulation; complement activation, classical pathway; innate immune response; platelet degranulation; negative regulation of complement activation, lectin pathway | 11q12.1 |
| SERPINH1 | response to unfolded protein; negative regulation of endopeptidase activity; regulation of proteolysis; response to stress | 11q13.5 |
| SERPINH1P1 | - | 9p13.3 |
| SERPINI1 | central nervous system development; peripheral nervous system development; negative regulation of endopeptidase activity; regulation of cell adhesion; regulation of proteolysis | 3q26.1 |
| SERTAD1 | positive regulation of transcription, DNA-dependent; regulation of cyclin-dependent protein kinase activity; positive regulation of cell proliferation | 19q13.1-q13.2 |
| SERTAD2 | positive regulation of transcription, DNA-dependent; negative regulation of cell growth | 2p14 |
| SERTAD3 | negative regulation of cell growth; positive regulation of transcription, DNA-dependent | 19q13.2 |
| SERTAD4 | - | 1q32.1-q41 |
| SERTAD4-AS1 | - | 1q32.2 |
| SERTM1 | - | 13q13.3 |
| SESN1 | cell cycle arrest; negative regulation of cell proliferation; response to DNA damage stimulus | 6q21 |
| SESN2 | cell cycle arrest | 1p35.3 |
| SESN3 | cell cycle arrest | 11q21 |
| SESTD1 | regulation of calcium ion transport via voltage-gated calcium channel activity | 2q31.2 |
| SET | nucleosome assembly; negative regulation of transcription, DNA-dependent; negative regulation of neuron apoptosis; negative regulation of histone acetylation; mRNA metabolic process; RNA metabolic process; gene expression; nucleocytoplasmic transport; nucleosome disassembly; DNA replication | 9q34 |
| SETBP1 | - | 18q21.1 |
| SETD1A | regulation of transcription, DNA-dependent; chromatin modification; histone H3-K4 methylation | 16p11.2 |
| SETD1B | regulation of transcription, DNA-dependent; chromatin modification; histone H3-K4 methylation | 12q24.31 |
| SETD2 | coronary vasculature morphogenesis; embryonic placenta morphogenesis; pericardium development; embryonic cranial skeleton morphogenesis; embryonic organ development; mesoderm morphogenesis; cell migration involved in vasculogenesis; forebrain development; peptidyl-lysine trimethylation; chromatin modification; histone H3-K36 methylation; regulation of transcription, DNA-dependent; neural tube closure; morphogenesis of a branching structure; angiogenesis; stem cell development | 3p21.31 |
| SETD3 | peptidyl-lysine trimethylation; peptidyl-lysine monomethylation; peptidyl-lysine dimethylation; positive regulation of transcription, DNA-dependent; chromatin modification; histone H3-K36 methylation | 14q32.2 |
| SETD4 | - | 21q22.13 |
| SETD5 | - | 3p25.3 |
| SETD6 | regulation of inflammatory response; negative regulation of NF-kappaB transcription factor activity; peptidyl-lysine monomethylation | 16q21 |
| SETD7 | regulation of transcription, DNA-dependent; chromatin modification; peptidyl-lysine monomethylation; peptidyl-lysine dimethylation; histone lysine methylation | 4q28 |
| SETD9 | - | 5q11.2 |
| SETDB1 | regulation of transcription, DNA-dependent; chromatin modification | 1q21 |
| SETDB2 | chromatin modification; left/right axis specification; histone H3-K9 methylation; cell division; negative regulation of transcription, DNA-dependent; multicellular organismal development; mitosis; chromosome segregation; cell cycle; heart looping | 13q14 |
| SETMAR | negative regulation of chromosome organization; positive regulation of double-strand break repair via nonhomologous end joining; negative regulation of cell cycle arrest; DNA integration; DNA double-strand break processing; DNA catabolic process, endonucleolytic; DNA repair; chromatin modification; transposition, DNA-mediated | 3p26.1 |
| SETP10 | - | 1q25.2 |
| SETP14 | - | 3q25.31 |
| SETP16 | - | 11q23.3 |
| SETP2 | - | 14q22.1 |
| SETP4 | - | Xq21.1 |
| SETP7 | - | - |
| SETP8 | - | Xq23 |
| SETX | cell death; DNA duplex unwinding; RNA processing; double-strand break repair | 9q34.13 |
| SEZ6 | - | 17q11.2 |
| SEZ6L | - | 22q12.1 |
| SEZ6L2 | - | 16p11.2 |
| SF1 | RNA splicing; regulation of transcription, DNA-dependent; nuclear mRNA splicing, via spliceosome; nuclear mRNA 3'-splice site recognition; spliceosome assembly | 11q13 |
| SF3A1 | gene expression; nuclear mRNA 3'-splice site recognition; nuclear mRNA splicing, via spliceosome; mRNA processing; RNA splicing | 22q12.2 |
| SF3A2 | gene expression; RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome; nuclear mRNA 3'-splice site recognition | 19p13.3 |
| SF3A3 | gene expression; RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome; nuclear mRNA 3'-splice site recognition; RNA splicing, via transesterification reactions | 1p34.3 |
| SF3A3P1 | - | 20p13 |
| SF3A3P2 | - | 11q24.1 |
| SF3B1 | gene expression; anterior/posterior pattern specification; RNA splicing; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions | 2q33.1 |
| SF3B2 | nuclear mRNA splicing, via spliceosome; interspecies interaction between organisms; gene expression; RNA splicing; mRNA processing | 11q13.1 |
| SF3B3 | protein complex assembly; gene expression; RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions | 16q22.1 |
| SF3B4 | gene expression; RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions | 1q21.2 |
| SF3B5 | gene expression; RNA splicing; nuclear mRNA splicing, via spliceosome | 6q24.2 |
| SF3B6 | - | 2pter-p25.1 |
| SFI1 | G2/M transition of mitotic cell cycle; mitotic cell cycle; negative regulation of phosphatase activity | 22q12.2 |
| SFMBT1 | regulation of transcription, DNA-dependent | 3p21.1 |
| SFMBT2 | regulation of transcription, DNA-dependent | 10p14 |
| SFN | positive regulation of protein export from nucleus; keratinocyte proliferation; skin development; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of cell growth; keratinocyte differentiation; DNA damage response, signal transduction resulting in induction of apoptosis; negative regulation of cell proliferation; cell proliferation; signal transduction; apoptotic process; negative regulation of protein kinase activity; release of cytochrome c from mitochondria; regulation of cyclin-dependent protein kinase activity | 1p36.11 |
| SFPQ | DNA repair; DNA recombination; regulation of transcription, DNA-dependent; mRNA processing; RNA splicing; alternative nuclear mRNA splicing, via spliceosome | 1p34.3 |
| SFR1 | double-strand break repair via homologous recombination; DNA repair | 10q25.1 |
| SFRP1 | positive regulation of focal adhesion assembly; canonical Wnt receptor signaling pathway; hemopoietic stem cell differentiation; bone trabecula formation; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis; regulation of branching involved in prostate gland morphogenesis; cellular response to tumor necrosis factor; negative regulation of androgen receptor signaling pathway; cellular response to vitamin D; cellular response to interleukin-1; positive regulation of stress fiber assembly; negative regulation of peptidyl-tyrosine phosphorylation; negative regulation of epithelial cell proliferation; positive regulation of epithelial cell proliferation; digestive tract morphogenesis; negative regulation of fibroblast proliferation; negative regulation of bone remodeling; negative regulation of insulin secretion; positive regulation of transcription, DNA-dependent; positive regulation of fat cell differentiation; negative regulation of transcription, DNA-dependent; planar cell | 8p11.21 |
| SFRP2 | negative regulation of peptidyl-tyrosine phosphorylation; negative regulation of epithelial cell proliferation; digestive tract morphogenesis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of anti-apoptosis; positive regulation of angiogenesis; positive regulation of osteoblast differentiation; positive regulation of fat cell differentiation; negative regulation of JUN kinase activity; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; positive regulation of apoptotic process; embryonic digit morphogenesis; negative regulation of mesodermal cell fate specification; cartilage development; convergent extension involved in axis elongation; bone morphogenesis; sclerotome development; negative regulation of dermatome development; hemopoietic stem cell proliferation; cellular response to X-ray; negative regulation of canonical Wnt receptor | 4q31.3 |
| SFRP4 | negative regulation of sequence-specific DNA binding transcription factor activity; response to peptide hormone stimulus; positive regulation of epidermal cell differentiation; negative regulation of JNK cascade; decidualization; response to glucocorticoid stimulus; phosphate ion homeostasis; mammary gland involution; epithelium development; negative regulation of canonical Wnt receptor signaling pathway; positive regulation of canonical Wnt receptor signaling pathway; negative regulation of sodium-dependent phosphate transport; response to estradiol stimulus; axonogenesis; positive regulation of receptor internalization; vasculature development; positive regulation of apoptotic process; brain development; negative regulation of cell proliferation; gonad development; response to hormone stimulus; embryo development; positive regulation of gene expression; Wnt receptor signaling pathway; menstrual cycle phase; cell differentiation | 7p14.1 |
| SFRP5 | negative regulation of cell proliferation; negative regulation of Wnt receptor signaling pathway involved in digestive tract morphogenesis; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of protein kinase B signaling cascade; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of catenin import into nucleus; cell differentiation; Wnt receptor signaling pathway; embryo development; anatomical structure morphogenesis; gonad development; visual perception; brain development; signal transduction; establishment or maintenance of cell polarity; apoptotic process; vasculature development | 10q24.1 |
| SFSWAP | regulation of transcription, DNA-dependent; mRNA splice site selection; mRNA processing; RNA splicing; negative regulation of nuclear mRNA splicing, via spliceosome | 12q24.33 |
| SFT2D1 | protein transport; vesicle-mediated transport | 6q27 |
| SFT2D2 | vesicle-mediated transport; protein transport | 1q24.2 |
| SFT2D3 | vesicle-mediated transport; protein transport | 2q14.3 |
| SFTA1P | - | 10p14 |
| SFTA2 | - | 6p21.33 |
| SFTA3 | - | 14q13.3 |
| SFTPA2 | respiratory gaseous exchange | 10q22.3 |
| SFTPA3P | - | 10q22.3 |
| SFTPB | cellular response to mechanical stimulus; respiratory gaseous exchange; circadian rhythm; response to glucose stimulus; organ morphogenesis; response to lipopolysaccharide; response to vitamin A; response to glucocorticoid stimulus; response to hyperoxia; response to interleukin-6; response to epidermal growth factor stimulus; cellular response to nitric oxide; sphingolipid metabolic process; lipid metabolic process; response to hypoxia | 2p12-p11.2 |
| SFTPC | response to hormone stimulus; response to interleukin-6; response to growth factor stimulus; cellular response to mechanical stimulus; cellular response to nitric oxide; response to hyperoxia; respiratory gaseous exchange; circadian rhythm; response to glucose stimulus; response to lipopolysaccharide; response to retinoic acid; protein homooligomerization; response to glucocorticoid stimulus; response to cAMP | 8p21 |
| SFTPD | regulation of cytokine production; receptor-mediated endocytosis; respiratory gaseous exchange; negative regulation of T cell proliferation; surfactant homeostasis; negative regulation of interleukin-2 biosynthetic process; innate immune response; macrophage chemotaxis; lung alveolus development; positive regulation of phagocytosis; reactive oxygen species metabolic process | 10q22.2-q23.1 |
| SFXN1 | iron ion homeostasis; transmembrane transport; erythrocyte differentiation; iron ion transport | - |
| SFXN2 | iron ion homeostasis; transmembrane transport | 10q24.32 |
| SFXN3 | iron ion homeostasis; transmembrane transport | 10q24.31 |
| SFXN4 | iron ion homeostasis; transmembrane transport | 10q26.11 |
| SFXN5 | transmembrane transport; iron ion homeostasis | - |
| SGCA | muscle organ development; muscle contraction | 17q21 |
| SGCB | cytoskeleton organization; muscle organ development | 4q12 |
| SGCD | cytoskeleton organization; muscle organ development | 5q33-q34 |
| SGCE | cell-matrix adhesion; muscle organ development | 7q21.3 |
| SGCG | cytoskeleton organization; muscle organ development | 13q12 |
| SGCZ | muscle cell homeostasis; muscle cell development; cytoskeleton organization; cellular membrane organization | 8p22 |
| SGF29 | chromatin modification; establishment of protein localization to chromatin; histone H3 acetylation; regulation of transcription, DNA-dependent | 16p11.2 |
| SGIP1 | positive regulation of feeding behavior; response to dietary excess; positive regulation of receptor-mediated endocytosis; positive regulation of energy homeostasis | 1p31.3 |
| SGK1 | positive regulation of transporter activity; regulation of cell growth; protein phosphorylation; sodium ion transport; response to stress; long-term memory; regulation of blood pressure; regulation of cell migration; regulation of cell proliferation; regulation of apoptotic process; regulation of catalytic activity; regulation of sequence-specific DNA binding transcription factor activity; regulation of gastric acid secretion; renal sodium ion absorption | 6q23 |
| SGK2 | intracellular protein kinase cascade; positive regulation of transporter activity; regulation of cell proliferation; regulation of cell growth; response to oxidative stress; protein phosphorylation | 20q13.2 |
| SGK223 | - | 8p23.1 |
| SGK3 | - | 8q12 |
| SGK494 | - | 17q11.2 |
| SGMS1 | small molecule metabolic process; sphingolipid biosynthetic process; cell growth; apoptotic process; sphingomyelin biosynthetic process; sphingolipid metabolic process; lipid metabolic process | 10q11.2 |
| SGMS2 | sphingolipid biosynthetic process; small molecule metabolic process; sphingolipid metabolic process; sphingomyelin biosynthetic process; lipid metabolic process | 4q25 |
| SGOL1 | centriole-centriole cohesion; cell division; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; chromosome segregation; attachment of spindle microtubules to kinetochore; meiotic chromosome segregation | 3p24.3 |
| SGOL1-AS1 | - | - |
| SGOL2 | cell division; mitotic prometaphase; meiotic sister chromatid cohesion, centromeric; protein localization; meiosis; chromosome segregation; M phase of mitotic cell cycle; mitotic cell cycle | 2q33.1 |
| SGPL1 | luteinization; palate development; vasculogenesis; kidney development; lipid metabolic process; sphingolipid metabolic process; ceramide metabolic process; nitrogen compound metabolic process; apoptotic process; spermatogenesis; face morphogenesis; androgen metabolic process; Leydig cell differentiation; regulation of multicellular organism growth; small molecule metabolic process; sphingolipid catabolic process; platelet-derived growth factor receptor signaling pathway; skeletal system morphogenesis; sphingolipid biosynthetic process; hemopoiesis; carboxylic acid metabolic process; fibroblast migration; post-embryonic development; female gonad development; estrogen metabolic process | 10q21 |
| SGPP1 | sphinganine-1-phosphate metabolic process; sphingosine metabolic process; small molecule metabolic process; sphingolipid metabolic process; sphingolipid biosynthetic process; dephosphorylation; apoptotic process | 14q23.2 |
| SGPP2 | sphingolipid metabolic process; sphingosine metabolic process; sphingolipid biosynthetic process; small molecule metabolic process | 2q36.1 |
| SGSH | proteoglycan metabolic process | 17q25.3 |
| SGSM1 | - | 22q11.23 |
| SGSM2 | - | 17p13.3 |
| SGSM3 | positive regulation of protein catabolic process; Rap protein signal transduction; regulation of Rab protein signal transduction; cell cycle arrest; cell cycle | 22q13.1-q13.2 |
| SGTA | interspecies interaction between organisms | 19p13 |
| SGTB | - | 5q12.3 |
| SH2B1 | blood coagulation; intracellular signal transduction | 16p11.2 |
| SH2B2 | regulation of JAK-STAT cascade; intracellular signal transduction; insulin receptor signaling pathway; blood coagulation; signal transduction | 7q22 |
| SH2B3 | embryonic hemopoiesis; blood coagulation; cell differentiation; intracellular signal transduction | 12q24 |
| SH2D1A | positive regulation of natural killer cell mediated cytotoxicity; cell-cell signaling; cellular defense response; humoral immune response | Xq25 |
| SH2D1B | positive regulation of natural killer cell mediated immunity; positive regulation of innate immune response; leukocyte activation involved in immune response | 1q23.3 |
| SH2D2A | multicellular organismal development; angiogenesis; signal transduction; cell differentiation | 1q21 |
| SH2D3A | JNK cascade; small GTPase mediated signal transduction | 19p13.3 |
| SH2D3C | JNK cascade; small GTPase mediated signal transduction | 9q34.11 |
| SH2D4A | negative regulation of phosphatase activity | 8p21.2 |
| SH2D4B | - | 10q23.1 |
| SH2D5 | - | 1p36.12 |
| SH2D6 | - | 2p11.2 |
| SH2D7 | - | 15q25.1 |
| SH3BGR | protein complex assembly | 21q22.3 |
| SH3BGRL | - | Xq13.3 |
| SH3BGRL2 | - | 6q14.1 |
| SH3BGRL3 | cell redox homeostasis | 1p36.11 |
| SH3BP1 | signal transduction | 22q13.1 |
| SH3BP2 | signal transduction | 4p16.3 |
| SH3BP4 | endocytosis | 2q37.1-q37.2 |
| SH3BP5 | intracellular signal transduction; signal transduction | 3p24.3 |
| SH3BP5-AS1 | - | 3p25.1 |
| SH3BP5L | - | 1q44 |
| SH3D19 | post-Golgi vesicle-mediated transport; cytoskeleton organization; regulation of cell morphogenesis; cellular membrane organization; positive regulation of membrane protein ectodomain proteolysis | 4q31.3 |
| SH3D21 | - | 1p34.3 |
| SH3GL1 | central nervous system development; signal transduction; endocytosis | 19p13.3 |
| SH3GL1P2 | - | 17q11.2 |
| SH3GL1P3 | - | 17q24.2 |
| SH3GL2 | regulation of receptor internalization; post-Golgi vesicle-mediated transport; signal transduction; epidermal growth factor receptor signaling pathway; axon guidance; central nervous system development; cellular membrane organization; negative regulation of epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; synaptic vesicle endocytosis | 9p22 |
| SH3GL3 | central nervous system development; endocytosis; signal transduction | 15q24 |
| SH3GLB1 | anti-apoptosis; signal transduction; positive regulation of protein oligomerization; filopodium assembly; protein oligomerization; apoptotic process | 1p22 |
| SH3GLB2 | filopodium assembly; signal transduction | 9q34 |
| SH3KBP1 | negative regulation of epidermal growth factor receptor signaling pathway; cell migration; regulation of cell shape; cell-cell signaling; epidermal growth factor receptor signaling pathway; cytoskeleton organization; apoptotic process; endocytosis | Xp22.1-p21.3 |
| SH3PXD2A | cell communication; superoxide metabolic process | 10q24.33 |
| SH3PXD2A-AS1 | - | - |
| SH3PXD2B | protein localization in membrane; adipose tissue development; bone development; positive regulation of fat cell differentiation; cell differentiation; extracellular matrix disassembly; heart development; cell communication; podosome assembly; superoxide metabolic process; eye development; skeletal system development | 5q35.1 |
| SH3RF1 | negative regulation of extrinsic apoptotic signaling pathway; induction of apoptosis; negative regulation of apoptotic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of JNK cascade | 4q32.3 |
| SH3RF2 | negative regulation of phosphatase activity | 5q32 |
| SH3RF3 | - | 2q13 |
| SH3RF3-AS1 | - | 2q12.3 |
| SH3TC1 | - | 4p16.1 |
| SH3TC2 | - | 5q32 |
| SH3YL1 | - | 2p25.3 |
| SHANK1 | cell differentiation; protein localization to synapse; associative learning; long-term memory; nervous system development; neuromuscular process controlling balance; dendritic spine morphogenesis; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; positive regulation of excitatory postsynaptic membrane potential; cytoskeletal anchoring at plasma membrane; protein complex assembly | 19q13.3 |
| SHANK2 | intracellular signal transduction | 11q13.2 |
| SHANK2-AS1 | - | - |
| SHANK2-AS2 | - | - |
| SHANK3 | positive regulation of synapse structural plasticity; positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; regulation of behavioral fear response; positive regulation of excitatory postsynaptic membrane potential; postsynaptic density assembly; vocalization behavior; dendritic spine morphogenesis; positive regulation of synaptic transmission, glutamatergic; brain morphogenesis; positive regulation of long-term neuronal synaptic plasticity; negative regulation of cell volume; locomotory exploration behavior; social behavior; striatal medium spiny neuron differentiation | 22q13.3 |
| SHARPIN | negative regulation of inflammatory response; mitochondrion organization; brain development; regulation of CD40 signaling pathway; epidermis development; protein linear polyubiquitination; keratinization; apoptotic nuclear change; regulation of tumor necrosis factor-mediated signaling pathway; protein homooligomerization; positive regulation of I-kappaB kinase/NF-kappaB cascade | 8q24.3 |
| SHB | angiogenesis; apoptotic process; signal transduction; multicellular organismal development; B cell proliferation; cell differentiation | 9p13.2 |
| SHBG | hormone transport; primary spermatocyte growth | 17p13-p12 |
| SHC1 | Ras protein signal transduction; positive regulation of smooth muscle cell proliferation; leukocyte migration; response to glucocorticoid stimulus; actin cytoskeleton reorganization; neuron projection development; regulation of epidermal growth factor-activated receptor activity; epidermal growth factor receptor signaling pathway; activation of signaling protein activity involved in unfolded protein response; response to hypoxia; angiogenesis; MAPK cascade; activation of MAPK activity; cell-cell adhesion; intracellular signal transduction; response to nicotine; response to insulin stimulus; heart development; aging; blood coagulation; positive regulation of cell proliferation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; response to toxin; platelet activation; neuron differentiation; endoplasmic reticulum unfolded protein response; organ regeneration; nerve growth factor receptor signaling pathway; regulation of growth; response to hydrogen peroxide; positive regula | 1q21 |
| SHC1P1 | - | Xq11.1 |
| SHC1P2 | - | 17q21.31 |
| SHC2 | Ras protein signal transduction; nerve growth factor receptor signaling pathway; intracellular signal transduction; insulin receptor signaling pathway | 19p13.3 |
| SHC3 | insulin receptor signaling pathway; epidermal growth factor receptor signaling pathway; Ras protein signal transduction; central nervous system development; learning or memory; transmembrane receptor protein tyrosine kinase signaling pathway; synaptic transmission, glutamatergic; intracellular signal transduction; nerve growth factor receptor signaling pathway | 9q22.1 |
| SHC4 | intracellular signal transduction | 15q21.1-q21.2 |
| SHCBP1 | - | 16q11.2 |
| SHCBP1L | - | 1q25.3 |
| SHD | - | 19p13.3 |
| SHE | - | 1q21.3 |
| SHF | apoptotic process | 15q21.1 |
| SHFM1 | proteolysis; double-strand break repair via homologous recombination | 7q21.3 |
| SHH | embryo development; smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation; dorsal/ventral neural tube patterning; ventral spinal cord interneuron specification; spinal cord dorsal/ventral patterning; intein-mediated protein splicing; myotube differentiation; positive regulation of skeletal muscle cell proliferation; striated muscle tissue development; oligodendrocyte development; negative regulation of gene expression; response to organic nitrogen; dorsal/ventral pattern formation; anterior/posterior pattern specification; embryonic pattern specification; limb development; midbrain development; negative regulation of transcription elongation from RNA polymerase II promoter; positive regulation of immature T cell proliferation in thymus; positive regulation of T cell differentiation in thymus; T cell differentiation in thymus; positive regulation of activin receptor signaling pathway; regulation of protein localization; response to retinoic acid; negative r | 7q36 |
| SHISA2 | multicellular organismal development | 13q12.13 |
| SHISA3 | multicellular organismal development | 4p13 |
| SHISA4 | - | 1q32.1 |
| SHISA5 | positive regulation of I-kappaB kinase/NF-kappaB cascade; induction of apoptosis; apoptotic process; signal transduction | 3p21.31 |
| SHISA6 | - | 17p12 |
| SHISA7 | - | 19q13.42 |
| SHISA8 | - | 22q13.2 |
| SHISA9 | regulation of short-term neuronal synaptic plasticity | 16p13.12 |
| SHKBP1 | potassium ion transport | 19q13.2 |
| SHMT1 | water-soluble vitamin metabolic process; protein homotetramerization; protein tetramerization; folic acid metabolic process; L-serine catabolic process; carnitine biosynthetic process; small molecule metabolic process; cellular nitrogen compound metabolic process; glycine biosynthetic process from serine; purine base biosynthetic process; vitamin metabolic process; one-carbon metabolic process | 17p11.2 |
| SHMT1P1 | - | 1p34 |
| SHMT2 | glycine metabolic process; protein homotetramerization; glycine biosynthetic process from serine; positive regulation of cell proliferation; one-carbon metabolic process; L-serine biosynthetic process; L-serine metabolic process | 12q12-q14 |
| SHOC2 | positive regulation of Ras protein signal transduction; fibroblast growth factor receptor signaling pathway; Ras protein signal transduction | 10q25 |
| SHOX | multicellular organismal development; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; skeletal system development | Xp22.33;Yp11.3 |
| SHOX2 | multicellular organismal development; heart development; skeletal system development; nervous system development | 3q25.32 |
| SHPK | carbohydrate metabolic process | 17p13 |
| SHPRH | DNA repair; nucleosome assembly | 6q24.3 |
| SHQ1 | ribonucleoprotein complex assembly | 3p13 |
| SHROOM1 | actin filament bundle assembly; cell morphogenesis | 5q31.1 |
| SHROOM2 | multicellular organismal development; lens morphogenesis in camera-type eye; cell morphogenesis; camera-type eye development; brain development; eye pigment granule organization; cell migration; negative regulation of actin filament depolymerization; establishment of melanosome localization; apical protein localization; ear development; cellular pigment accumulation; melanosome organization; camera-type eye morphogenesis; cell-cell junction maintenance; actin filament bundle assembly | Xp22.3 |
| SHROOM2P1 | - | Yq11.21 |
| SHROOM3 | apical protein localization; cell morphogenesis; cellular pigment accumulation; neural tube closure; columnar/cuboidal epithelial cell development; pattern specification process; regulation of cell shape; actin cytoskeleton organization | 4q21.1 |
| SHROOM4 | cell morphogenesis; cognition; actin cytoskeleton organization; brain development; multicellular organismal development; actin filament organization | Xp11.22 |
| SHTN1 | axon guidance; multicellular organismal development | 10q25.3 |
| SI | carbohydrate metabolic process; aging; response to sucrose stimulus; response to fructose stimulus; response to insulin stimulus; response to vitamin A; response to starvation; polysaccharide digestion; small molecule metabolic process; response to glucocorticoid stimulus; response to nutrient | 3q25.2-q26.2 |
| SIAE | - | 11q24 |
| SIAH1 | anatomical structure morphogenesis; positive regulation of intrinsic apoptotic signaling pathway; neuron apoptosis; proteasomal ubiquitin-dependent protein catabolic process; positive regulation of apoptotic process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein destabilization; protein catabolic process; cell differentiation; protein ubiquitination; proteolysis; apoptotic process; cell cycle; multicellular organismal development; spermatogenesis; nervous system development; axon guidance | 16q12.1 |
| SIAH1P1 | - | Xp21.1 |
| SIAH2 | negative regulation of extrinsic apoptotic signaling pathway; negative regulation of canonical Wnt receptor signaling pathway; multicellular organismal development; cellular protein catabolic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; axon guidance; small GTPase mediated signal transduction; cell cycle; ubiquitin-dependent protein catabolic process | 3q25 |
| SIAH3 | ubiquitin-dependent protein catabolic process; multicellular organismal development | 13q14.13 |
| SIDT1 | - | 3q13.2 |
| SIDT2 | - | 11q23.3 |
| SIGIRR | negative regulation of cytokine-mediated signaling pathway; acute-phase response; signal transduction; innate immune response; negative regulation of chemokine biosynthetic process; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of lipopolysaccharide-mediated signaling pathway | 11p15.5 |
| SIGLEC1 | endocytosis; inflammatory response; cell-matrix adhesion; cell-cell adhesion | 20p13 |
| SIGLEC10 | cell adhesion | 19q13.3 |
| SIGLEC11 | cell adhesion | 19q13.33 |
| SIGLEC12 | cell adhesion | 19q13.4 |
| SIGLEC14 | cell adhesion | 19q13.4 |
| SIGLEC15 | - | 18q12.3 |
| SIGLEC17P | - | 19q13.3 |
| SIGLEC20P | - | 19q13.41 |
| SIGLEC22P | - | 19q13.41 |
| SIGLEC24P | - | 19q13.41 |
| SIGLEC27P | - | 19q13.41 |
| SIGLEC28P | - | 19q13.41 |
| SIGLEC30P | - | 1q24.2 |
| SIGLEC31P | - | 19q13.43 |
| SIGLEC5 | cell adhesion | 19q13.3 |
| SIGLEC6 | cell-cell signaling; cell adhesion | 19q13.3 |
| SIGLEC7 | cell adhesion | 19q13.3 |
| SIGLEC8 | signal transduction; cell adhesion | 19q13.33-q13.41 |
| SIGLEC9 | cell surface receptor signaling pathway; cell adhesion | 19q13.41 |
| SIGLECL1 | - | 19q13.41 |
| SIGMAR1 | nervous system development; ergosterol biosynthetic process; transport; lipid transport | 9p13.3 |
| SIK1 | intracellular protein kinase cascade; multicellular organismal development; cardiac muscle cell differentiation; negative regulation of transcription from RNA polymerase II promoter; regulation of myotube differentiation; protein autophosphorylation; negative regulation of gluconeogenesis; regulation of mitotic cell cycle; regulation of cell differentiation; signal transduction by p53 class mediator resulting in induction of anoikis; negative regulation of CREB transcription factor activity; cell cycle; protein phosphorylation; regulation of sodium ion transport; negative regulation of triglyceride biosynthetic process | 21q22.3 |
| SIK2 | protein phosphorylation; protein autophosphorylation; regulation of insulin receptor signaling pathway; intracellular protein kinase cascade | 11q23.1 |
| SIK3 | protein phosphorylation | 11q23.3 |
| SIK3-IT1 | - | - |
| SIKE1 | innate immune response | 1p13.2 |
| SIL1 | intracellular protein transport; protein folding | 5q31 |
| SIM1 | nervous system development; cell differentiation; multicellular organismal development; regulation of transcription, DNA-dependent; ureteric bud development | 6q16.3-q21 |
| SIM2 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; nervous system development; embryonic pattern specification; cell differentiation; lung development | 21q22.13 |
| SIMC1 | - | 5q35.2 |
| SIN3A | response to organic nitrogen; DNA replication; regulation of transcription from RNA polymerase II promoter in response to oxidative stress; cellular lipid metabolic process; negative regulation of apoptotic process; small molecule metabolic process; in utero embryonic development; negative regulation of transcription, DNA-dependent; interphase of mitotic cell cycle; aging; blood coagulation; cellular protein localization | 15q24.2 |
| SIN3B | skeletal muscle tissue development; cellular lipid metabolic process; small molecule metabolic process; negative regulation of transcription, DNA-dependent; cardiac muscle tissue development | 19p13.11 |
| SIPA1 | signal transduction; cytoskeleton organization; negative regulation of cell adhesion; cell proliferation; positive regulation of Rap GTPase activity; negative regulation of cell growth; regulation of small GTPase mediated signal transduction; negative regulation of cell cycle; intracellular signal transduction; positive regulation of GTPase activity | 11q13 |
| SIPA1L1 | regulation of small GTPase mediated signal transduction; regulation of dendritic spine morphogenesis; actin cytoskeleton reorganization; regulation of Rap GTPase activity; activation of Rap GTPase activity; ephrin receptor signaling pathway; regulation of synaptic plasticity; regulation of axonogenesis | 14q24.2 |
| SIPA1L2 | regulation of small GTPase mediated signal transduction | 1q42.2 |
| SIPA1L3 | regulation of small GTPase mediated signal transduction | 19q13.13 |
| SIRPA | leukocyte migration; blood coagulation; cell adhesion | 20p13 |
| SIRPAP1 | - | 22q12.2 |
| SIRPB1 | signal transduction; cell surface receptor signaling pathway | 20p13 |
| SIRPB2 | - | 20p13 |
| SIRPD | - | 20p13 |
| SIRPG | positive regulation of cell proliferation; cell adhesion; cell-cell signaling; blood coagulation; negative regulation of cell proliferation; leukocyte migration; positive regulation of T cell activation; intracellular signal transduction; positive regulation of cell-cell adhesion | 20p13 |
| SIRT1 | negative regulation of fat cell differentiation; positive regulation of MHC class II biosynthetic process; interspecies interaction between organisms; positive regulation of DNA repair; positive regulation of anti-apoptosis; cellular glucose homeostasis; negative regulation of transcription, DNA-dependent; negative regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of sequence-specific DNA binding transcription factor activity; chromatin silencing at rDNA; pyrimidine dimer repair by nucleotide-excision repair; DNA synthesis involved in DNA repair; angiogenesis; ovulation from ovarian follicle; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of protein phosphorylation; cellular response to tumor necrosis factor; positive regulation of cellular senescence; negative regulation of cellular senescence; negative regulation of peptidyl-lysine acetylation; negative regulation of cellular response to testoster | 10q21.3 |
| SIRT2 | cell division; protein deacetylation; cell cycle; protein ADP-ribosylation; mitosis; regulation of exit from mitosis; chromatin silencing at telomere; chromatin silencing; chromatin silencing at rDNA; gene silencing; histone deacetylation; regulation of phosphorylation; proteasomal ubiquitin-dependent protein catabolic process; negative regulation of striated muscle tissue development; negative regulation of transcription, DNA-dependent; response to redox state | 19q13 |
| SIRT3 | protein ADP-ribosylation; protein deacetylation | 11p15.5 |
| SIRT4 | chromatin silencing; protein ADP-ribosylation; protein deacetylation; negative regulation of insulin secretion | 12q |
| SIRT5 | peptidyl-lysine desuccinylation; peptidyl-lysine demalonylation; protein deacetylation; protein ADP-ribosylation; chromatin silencing | 6p23 |
| SIRT6 | protein deacetylation; protein ADP-ribosylation | 19p13.3 |
| SIRT7 | positive regulation of transcription on exit from mitosis; protein deacetylation; rRNA transcription | 17q25 |
| SIT1 | signal transduction; regulation of T cell activation | 9p13-p12 |
| SIVA1 | negative regulation of NF-kappaB transcription factor activity; induction of apoptosis; apoptotic process; activation-induced cell death of T cells; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; response to virus; negative regulation of anti-apoptosis; interspecies interaction between organisms | 14q32.33 |
| SIX1 | regulation of neuron differentiation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; thymus development; generation of neurons; embryonic cranial skeleton morphogenesis; embryonic skeletal system morphogenesis; inner ear development; myoblast migration; pharyngeal system development; otic vesicle development; metanephric mesenchyme development; regulation of branch elongation involved in ureteric bud branching; positive regulation of ureteric bud formation; mesonephric tubule formation; ureter smooth muscle cell differentiation; positive regulation of secondary heart field cardioblast proliferation; positive regulation of branching involved in ureteric bud morphogenesis; positive regulation of mesenchymal cell proliferation involved in ureter development; inner ear morphogenesis; ureteric bud development; branching involved in ureteric bud morphogenesis; organ induction; kidney development; outflow tract morphogenesis; transcription, | 14q23.1 |
| SIX2 | embryonic cranial skeleton morphogenesis; mesodermal cell fate specification; cell proliferation; anatomical structure morphogenesis; multicellular organismal development; middle ear morphogenesis; negative regulation of cell differentiation; positive regulation of transcription from RNA polymerase II promoter; protein import into nucleus; regulation of transcription, DNA-dependent; mesenchymal to epithelial transition involved in metanephros morphogenesis; chondrocyte differentiation; kidney development; metanephros development | 2p21 |
| SIX3 | forebrain anterior/posterior pattern specification; telencephalon development; diencephalon development; visual perception; brain development; multicellular organismal development; protein import into nucleus; negative regulation of Wnt receptor signaling pathway; lens induction in camera-type eye; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; camera-type eye development | 2p21 |
| SIX3-AS1 | - | 2p21 |
| SIX4 | myoblast migration; thymus development; positive regulation of ureteric bud formation; positive regulation of branching involved in ureteric bud morphogenesis; multicellular organismal development; skeletal muscle tissue development; anatomical structure morphogenesis; generation of neurons; regulation of branch elongation involved in ureteric bud branching; inner ear morphogenesis; negative regulation of neuron apoptosis; positive regulation of transcription from RNA polymerase II promoter; metanephric mesenchyme development; embryonic cranial skeleton morphogenesis | 14q23 |
| SIX5 | negative regulation of cell proliferation; spermatid development; lens development in camera-type eye; multicellular organismal development | 19q13.32 |
| SIX6 | multicellular organismal development; visual perception; organ morphogenesis | 14q23.1 |
| SKA1 | M phase of mitotic cell cycle; mitotic anaphase; regulation of microtubule polymerization or depolymerization; mitotic prometaphase; mitotic cell cycle; chromosome segregation; mitosis; cell division | 18q21.1 |
| SKA2 | cell division; regulation of microtubule polymerization or depolymerization; mitosis; chromosome segregation; mitotic cell cycle; mitotic prometaphase; mitotic anaphase; M phase of mitotic cell cycle | 17q22 |
| SKA2P1 | - | 9q33.2 |
| SKA3 | cell division; regulation of microtubule polymerization or depolymerization; mitosis; cell cycle; chromosome segregation | 13q12.11 |
| SKAP1 | positive regulation of transcription from RNA polymerase II promoter; T cell receptor signaling pathway; positive regulation of transcription, DNA-dependent | 17q21.32 |
| SKAP2 | B cell activation; negative regulation of cell proliferation; signal transduction; protein complex assembly | 7p15.2 |
| SKCG-1 | - | - |
| SKI | negative regulation of histone deacetylation; retina development in camera-type eye; palate development; cell motility; skeletal muscle fiber development; camera-type eye morphogenesis; negative regulation of fibroblast proliferation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of osteoblast differentiation; nose morphogenesis; positive regulation of DNA binding; negative regulation of catalytic activity; camera-type eye development; regulation of apoptotic process; somatic stem cell maintenance; negative regulation of activin receptor signaling pathway; face morphogenesis; negative regulation of BMP signaling pathway; negative regulation of transforming growth factor beta receptor signaling pathway; BMP signaling pathway; embryonic limb morphogenesis; positive regulation of Wnt receptor signaling pathway; myelination in peripheral nervous system; olfactory bulb development; lens morphogenesis in camera-type eye; transcription, DNA-dependent; myotube differentiati | 1p36.33 |
| SKIDA1 | - | 10p12.31 |
| SKIL | positive regulation of axonogenesis; response to growth factor stimulus; lens fiber cell differentiation; protein heterotrimerization; protein homotrimerization; response to antibiotic; regulation of apoptotic process; negative regulation of transforming growth factor beta receptor signaling pathway; skeletal muscle tissue development; negative regulation of cell differentiation; cell cycle arrest; lymphocyte homeostasis; blastocyst formation; negative regulation of transcription from RNA polymerase II promoter | 3q26 |
| SKINTL | - | 1p33 |
| SKIV2L | - | 6p21 |
| SKIV2L2 | RNA splicing; nuclear mRNA splicing, via spliceosome; maturation of 5.8S rRNA | 5q11.2 |
| SKOR1 | negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; negative regulation of BMP signaling pathway; regulation of transcription, DNA-dependent | 15q23 |
| SKOR2 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of transforming growth factor beta receptor signaling pathway; regulation of transcription, DNA-dependent | 18q21.1 |
| SKP1 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; histone H2A monoubiquitination; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; viral reproduction; ubiquitin-dependent protein catabolic process; mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle | 5q31 |
| SKP1P1 | - | 7q11.21 |
| SKP2 | regulation of cell cycle; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; protein polyubiquitination; mitotic cell cycle; ubiquitin-dependent protein catabolic process; cell proliferation; negative regulation of survival gene product expression; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of intracellular estrogen receptor signaling pathway | 5p13 |
| SLA | - | 8q24 |
| SLA2 | regulation of immune response; negative regulation of B cell activation; antigen receptor-mediated signaling pathway; negative regulation of calcium-mediated signaling; T cell activation; negative regulation of transcription from RNA polymerase II promoter; B cell mediated immunity; intracellular receptor mediated signaling pathway | 20q11.23 |
| SLAIN1 | - | 13q22.3 |
| SLAIN2 | positive regulation of microtubule polymerization; cytoplasmic microtubule organization; microtubule nucleation | 4p11 |
| SLAMF1 | interspecies interaction between organisms; positive regulation of cell proliferation; lymphocyte activation | 1q23.3 |
| SLAMF6 | - | 1q23.2 |
| SLAMF7 | cell adhesion; natural killer cell mediated cytotoxicity; natural killer cell activation | 1q23.1-q24.1 |
| SLAMF8 | - | 1q23.2 |
| SLAMF9 | - | 1q23.2 |
| SLBP | gene expression; histone mRNA metabolic process; DNA replication involved in S phase; regulation of S phase; mRNA transport; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; histone mRNA 3'-end processing; mRNA export from nucleus | 4p16.3 |
| SLC10A1 | bile acid and bile salt transport; sodium ion transport; bile acid metabolic process; organic anion transport; ion transport; transport; small molecule metabolic process | 14q24.1 |
| SLC10A2 | bile acid and bile salt transport; sodium ion transport; bile acid metabolic process; organic anion transport; ion transport; transport; small molecule metabolic process | 13q33 |
| SLC10A3 | transport; sodium ion transport; organic anion transport; response to retinoic acid; response to chemical stimulus | Xq28 |
| SLC10A4 | sodium ion transport; ion transport | 4p11 |
| SLC10A5 | ion transport; sodium ion transport | 8q21.13 |
| SLC10A6 | sodium ion transport; ion transport; transmembrane transport; sodium-dependent organic anion transport | 4q21.3 |
| SLC10A7 | sodium ion transport; ion transport | 4q31.22 |
| SLC11A1 | T cell proliferation involved in immune response; negative regulation of cytokine production; positive regulation of cytokine production; T cell cytokine production; protein import into nucleus, translocation; manganese ion transmembrane transport; response to lipopolysaccharide; positive regulation of transcription from RNA polymerase II promoter; cadmium ion transmembrane transport; multicellular organismal iron ion homeostasis; transmembrane transport; iron ion homeostasis; defense response to Gram-negative bacterium; positive regulation of phagocytosis; mRNA stabilization; antigen processing and presentation of peptide antigen; divalent metal ion export; respiratory burst; MHC class II biosynthetic process; L-arginine import; defense response to protozoan; defense response to bacterium; macrophage activation; wound healing; response to interferon-gamma; inflammatory response; positive regulation of dendritic cell antigen processing and presentation; positive regulation of T-helper 1 type immune response; | 2q35 |
| SLC11A2 | heme biosynthetic process; detection of oxygen; response to hypoxia; cellular iron ion homeostasis; cobalt ion transport; ion transport; zinc ion transmembrane transport; manganese ion transmembrane transport; ferrous iron import; cadmium ion transmembrane transport; multicellular organismal iron ion homeostasis; transmembrane transport; erythrocyte development; dendrite morphogenesis; response to cadmium ion; nickel cation transmembrane transport; copper ion transmembrane transport; cellular response to oxidative stress; lead ion transport; copper ion transport; manganese ion transport; activation of cysteine-type endopeptidase activity involved in apoptotic process; learning or memory; response to iron ion; response to manganese ion; response to lead ion; nickel cation transport; vanadium ion transport; ferrous iron transport; proton transport | 12q13 |
| SLC12A1 | kidney development; transport; ion transport; potassium ion transport; sodium ion transport; chloride transport; excretion; ion transmembrane transport; chemical homeostasis; transmembrane transport | 15q15-q21.1 |
| SLC12A2 | transport; transmembrane transport; ion transport; potassium ion transport; sodium ion transport; ammonium transport; transepithelial chloride transport; multicellular organism growth; detection of mechanical stimulus involved in sensory perception of sound; transepithelial ammonium transport; mammary duct terminal end bud growth; branching involved in mammary gland duct morphogenesis | 5q23.3 |
| SLC12A3 | ion transport; sodium ion transport; transport; chloride transport; sodium ion transmembrane transport; transmembrane transport | 16q13 |
| SLC12A4 | ion transport; transmembrane transport; cell volume homeostasis; chloride transport; sodium ion transport; potassium ion transport; transport | 16q22.1 |
| SLC12A5 | sodium ion transport; intracellular pH reduction; potassium ion transport; ion transport; transport; chloride transport; transmembrane transport; cellular ion homeostasis; ammonium transport | 20q13.12 |
| SLC12A6 | sodium ion transport; potassium ion transport; ion transport; angiogenesis; cellular hypotonic salinity response; chloride transport; transmembrane transport | 15q13 |
| SLC12A7 | transport; ion transport; potassium ion transport; sodium ion transport; chloride transport; cell volume homeostasis; transmembrane transport | 5p15 |
| SLC12A8 | ion transport; transmembrane transport; potassium ion transport | 3q21.2 |
| SLC12A9 | transmembrane transport | 7q22 |
| SLC13A1 | transmembrane transport; sodium ion transport; sulfate transport; ion transmembrane transport | 7q31.32 |
| SLC13A2 | transport; ion transport; transmembrane transport; sodium ion transport | 17p13.2 |
| SLC13A3 | sodium ion transport; anion transport; sodium ion export; transmembrane transport | 20q13.12 |
| SLC13A4 | transmembrane transport; sulfate transport; sodium ion transport; ion transport | 7q33 |
| SLC13A5 | ion transport; sodium ion transport; transmembrane transport | 17p13.1 |
| SLC14A1 | urea transport; transmembrane transport; urea transmembrane transport | 18q11-q12 |
| SLC15A1 | peptide transport; protein transport; digestion; oligopeptide transport; ion transport; transport; transmembrane transport; oligopeptide transmembrane transport | 13q32.3 |
| SLC15A2 | transport; ion transport; protein transport; drug transport; transmembrane transport | 3q13.33 |
| SLC15A3 | protein transport; oligopeptide transport; ion transport; transmembrane transport | 11q12.2 |
| SLC15A4 | protein transport; oligopeptide transport; ion transport; transmembrane transport | 12q24.32 |
| SLC15A5 | protein transport; oligopeptide transport | 12p12.3 |
| SLC16A1 | leukocyte migration; transmembrane transport; small molecule metabolic process; mevalonate transport; monocarboxylic acid transport; organic anion transport; blood coagulation; pyruvate metabolic process | 1p12 |
| SLC16A10 | ion transport; amino acid transport; aromatic amino acid transport; transmembrane transport | 6q21-q22 |
| SLC16A11 | transmembrane transport | 17p13.1 |
| SLC16A12 | transmembrane transport | 10q23.31 |
| SLC16A13 | transmembrane transport | 17p13.1 |
| SLC16A14 | transmembrane transport | 2q36.3 |
| SLC16A14P1 | - | 8q23.1 |
| SLC16A2 | transport; monocarboxylic acid transport; transmembrane transport | Xq13.2 |
| SLC16A4 | transmembrane transport; monocarboxylic acid transport | 1p13.3 |
| SLC16A5 | monocarboxylic acid transport; organic anion transport; transmembrane transport | 17q25.1 |
| SLC16A6 | monocarboxylic acid transport; transmembrane transport | 17q24.2 |
| SLC16A7 | pyruvate transport; transmembrane transport | 12q13 |
| SLC16A9 | urate metabolic process; transmembrane transport | 10q21.2 |
| SLC17A1 | ion transport; sodium ion transport; phosphate ion transport; sodium-dependent phosphate transport; urate metabolic process; transmembrane transport | 6p22.2 |
| SLC17A2 | phosphate-containing compound metabolic process; ion transport; sodium ion transport; transmembrane transport | 6p21.3 |
| SLC17A3 | urate metabolic process; organic anion transport; drug transmembrane transport; urate transport; phosphate ion transport; sodium ion transport; ion transport; glucose-6-phosphate transport; drug transport; regulation of anion transport | 6p21.3 |
| SLC17A4 | phosphate-containing compound metabolic process; transmembrane transport; sodium ion transport; ion transport | 6p22.2 |
| SLC17A5 | transmembrane transport; ion transport; anion transport; sialic acid transport | 6q13 |
| SLC17A6 | ion transport; transmembrane transport; neurotransmitter transport; sodium ion transport | 11p14.3 |
| SLC17A7 | synaptic transmission; regulation of excitatory postsynaptic membrane potential; phosphate ion transport; sodium ion transport; neurotransmitter secretion; long-term memory; glutamate secretion; L-glutamate transport; ion transport; synaptic transmission, glutamatergic; sequestering of neurotransmitter; sodium-dependent phosphate transport; L-glutamate import; transmembrane transport | 19q13 |
| SLC17A8 | transmembrane transport; L-amino acid transport; sensory perception of sound; neurotransmitter transport; sodium ion transport; ion transport; amino acid transmembrane transport | 12q23.1 |
| SLC17A9 | transmembrane transport; exocytosis | 20q13.33 |
| SLC18A1 | cellular response to lithium ion; transmembrane transport; negative regulation of serotonin uptake; positive regulation of dopamine secretion; monoamine transport; neurotransmitter transport | 8p21.3 |
| SLC18A2 | cellular response to ammonium ion; response to amphetamine; transmembrane transport; negative regulation of neurotransmitter transport; response to corticosterone stimulus; response to starvation; glucose homeostasis; response to cocaine; cellular response to drug; endocytic recycling; insulin secretion; death; monoamine transport; synaptic vesicle amine transport; response to zinc ion; post-embryonic development; response to herbicide; locomotory behavior; aging; neurotransmitter secretion; synaptic transmission | 10q25 |
| SLC18A3 | synaptic transmission; neurotransmitter secretion; acetylcholine transport; transmembrane transport | 10q11.2 |
| SLC18B1 | transmembrane transport | 6q22.3-q23.3 |
| SLC19A1 | methotrexate transport; vitamin metabolic process; water-soluble vitamin metabolic process; transport; folic acid transport; small molecule metabolic process; folic acid metabolic process | 21q22.3 |
| SLC19A2 | thiamine transport; vitamin metabolic process; thiamine transmembrane transport; thiamine-containing compound metabolic process; folic acid transport; small molecule metabolic process; transport; water-soluble vitamin metabolic process | 1q23.3 |
| SLC19A3 | small molecule metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; transport; thiamine-containing compound metabolic process | 2q37 |
| SLC1A1 | ion transport; amino acid transmembrane transport; dicarboxylic acid transport; synaptic transmission; L-amino acid transport; L-glutamate transport; protein homooligomerization; L-glutamate import; transmembrane transport; D-aspartate import; sodium ion export | 9p24 |
| SLC1A2 | amino acid transmembrane transport; ion transport; dicarboxylic acid transport; synaptic transmission; nervous system development; visual behavior; response to wounding; multicellular organismal aging; L-amino acid transport; sodium ion export; D-aspartate import; transmembrane transport; L-glutamate import; positive regulation of glucose import; response to amino acid stimulus; response to drug; multicellular organism growth; cellular response to extracellular stimulus; adult behavior; telencephalon development; L-glutamate transport | 11p13-p12 |
| SLC1A3 | malate-aspartate shuttle; neurotransmitter uptake; amino acid transmembrane transport; glutamate biosynthetic process; ion transport; dicarboxylic acid transport; sensory perception of sound; response to drug; response to antibiotic; cell morphogenesis involved in neuron differentiation; positive regulation of synaptic transmission; neuromuscular process controlling balance; L-glutamate import; transmembrane transport; D-aspartate import; sodium ion export; auditory behavior; cranial nerve development; L-glutamate transport; L-amino acid transport; response to inorganic substance; response to wounding; gamma-aminobutyric acid biosynthetic process; response to light stimulus; synaptic transmission | 5p13 |
| SLC1A4 | proline transmembrane transport; ion transport; transmembrane transport; cognition; synaptic transmission, glutamatergic; hydroxyproline transport; threonine transport; L-serine transport; proline transport; L-cystine transport; L-alanine transport; glutamine transport; amino acid transport; dicarboxylic acid transport; chloride transport | 2p15-p13 |
| SLC1A5 | ion transport; dicarboxylic acid transport; amino acid transport; transmembrane transport; neutral amino acid transport; glutamine transport | 19q13.3 |
| SLC1A6 | synaptic transmission; ion transport; dicarboxylic acid transport; L-amino acid transport; aspartate transport; L-glutamate transport; regulation of membrane potential; transmembrane transport; amino acid transmembrane transport | 19p13.12 |
| SLC1A7 | L-glutamate transport; dicarboxylic acid transport; ion transport; transmembrane transport | 1p32.3 |
| SLC20A1 | signal transduction; transmembrane transport; positive regulation of I-kappaB kinase/NF-kappaB cascade; phosphate-containing compound metabolic process; transport; ion transport; sodium ion transport; phosphate ion transport | 2q13 |
| SLC20A1P3 | - | 15q11.1 |
| SLC20A2 | transport; ion transport; sodium ion transport; phosphate ion transport; interspecies interaction between organisms; transmembrane transport | 8p11.21 |
| SLC22A1 | establishment or maintenance of transmembrane electrochemical gradient; transmembrane transport; epinephrine transport; organic cation transport; drug transmembrane transport | 6q25.3 |
| SLC22A10 | - | 11q12.3 |
| SLC22A11 | ion transport; organic anion transport; urate metabolic process; transmembrane transport | 11q13.1 |
| SLC22A13 | organic cation transport | 3p21.3 |
| SLC22A14 | organic cation transport | 3p21.3 |
| SLC22A15 | ion transport | 1p13.1 |
| SLC22A16 | single fertilization; ion transport; multicellular organismal development; transmembrane transport; acid secretion; sperm motility; cell differentiation; carnitine transport; organic cation transport; spermatogenesis | 6q22.1|6q21-q22.1 |
| SLC22A17 | iron ion homeostasis; ion transport; siderophore transport | 14q11.2 |
| SLC22A18 | transmembrane transport; drug transport; organic cation transport; excretion; drug transmembrane transport; ion transport | 11p15.5 |
| SLC22A18AS | - | 11p15.5 |
| SLC22A2 | synaptic transmission; neurotransmitter secretion; body fluid secretion; organic cation transport; neurotransmitter biosynthetic process; transmembrane transport | 6q25.3 |
| SLC22A20 | ion transport | 11q13.1 |
| SLC22A23 | ion transport | 6p25.2 |
| SLC22A24 | transmembrane transport; ion transport | 11q12.3 |
| SLC22A25 | transmembrane transport | 11q12.3 |
| SLC22A3 | histamine uptake; monoamine transport; quaternary ammonium group transport; organic cation transport; regulation of appetite; transmembrane transport | 6q25.3 |
| SLC22A31 | ion transport | 16q24.3 |
| SLC22A4 | carnitine transport; transmembrane transport; quaternary ammonium group transport; organic cation transport; carnitine metabolic process; body fluid secretion; sodium ion transport; triglyceride metabolic process | 5q31.1 |
| SLC22A5 | drug transport; positive regulation of intestinal epithelial structure maintenance; transmembrane transport; quorum sensing involved in interaction with host; sodium-dependent organic cation transport; sodium ion transport; drug transmembrane transport; quaternary ammonium group transport; carnitine transport | 5q23.3 |
| SLC22A6 | alpha-ketoglutarate transport; transmembrane transport; response to methotrexate; sodium-independent organic anion transport; organic anion transport | 11q12.3 |
| SLC22A7 | organic anion transport; transmembrane transport | 6p21.1 |
| SLC22A8 | glutathione transport; transmembrane transport; response to toxin; organic anion transport; response to methotrexate | 11q11 |
| SLC22A9 | transmembrane transport | 11q13.1 |
| SLC23A1 | transepithelial L-ascorbic acid transport; L-ascorbic acid transport; nucleobase transport; ion transport; water-soluble vitamin metabolic process; response to toxin; sodium ion export; L-ascorbic acid metabolic process; vitamin metabolic process; nucleobase-containing compound metabolic process; brain development; dehydroascorbic acid transport; small molecule metabolic process; sodium ion transport | 5q31.2 |
| SLC23A2 | L-ascorbic acid transport; molecular hydrogen transport; nucleobase transport; sodium ion transport; response to oxidative stress; water-soluble vitamin metabolic process; vitamin metabolic process; ion transport; nucleobase-containing compound metabolic process; transepithelial L-ascorbic acid transport; small molecule metabolic process; L-ascorbic acid metabolic process | 20p13 |
| SLC23A3 | transmembrane transport | 2q35 |
| SLC24A1 | transmembrane transport; response to stimulus; transport; ion transport; visual perception; calcium ion transport; response to light intensity | 15q22 |
| SLC24A2 | sodium ion transport; cellular calcium ion homeostasis; visual perception; learning; memory; response to stimulus; potassium ion transport; ion transport; transmembrane transport; long term synaptic depression; long-term synaptic potentiation | 9p22.1 |
| SLC24A3 | potassium ion transmembrane transport; ion transport; cation transport; potassium ion transport; sodium ion transport; transmembrane transport; calcium ion transmembrane transport; sodium ion export | 20p13 |
| SLC24A4 | transmembrane transport; calcium ion transport; ion transport; potassium ion transport; sodium ion transport | 14q32.12 |
| SLC24A5 | calcium ion transport; ion transport; potassium ion transport; sodium ion transport; response to stimulus; transmembrane transport | 15q21.1 |
| SLC25A1 | transmembrane transport; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process; mitochondrial citrate transport; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process | 22q11.21 |
| SLC25A10 | carbohydrate metabolic process; sulfur amino acid catabolic process; sulfur amino acid metabolic process; sulfide oxidation, using sulfide:quinone oxidoreductase; transmembrane transport; small molecule metabolic process; cellular nitrogen compound metabolic process; mitochondrial transport; dicarboxylic acid transport; ion transport; gluconeogenesis; glucose metabolic process | 17q25.3 |
| SLC25A11 | transport; small molecule metabolic process; alpha-ketoglutarate transport; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process | 17p13.3 |
| SLC25A12 | aspartate transport; small molecule metabolic process; malate-aspartate shuttle; L-glutamate transport; response to calcium ion; transmembrane transport; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process | 2q24 |
| SLC25A13 | cellular respiration; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process; amino acid transmembrane transport; response to calcium ion; transmembrane transport; small molecule metabolic process; ATP biosynthetic process; transport; L-amino acid transport; aspartate transport; L-glutamate transport; malate-aspartate shuttle | 7q21.3 |
| SLC25A14 | transport; mitochondrial transport; aerobic respiration | Xq24 |
| SLC25A15 | cellular nitrogen compound metabolic process; urea cycle; mitochondrial ornithine transport; cellular amino acid metabolic process; transport; small molecule metabolic process | 13q14 |
| SLC25A15P5 | - | - |
| SLC25A16 | transmembrane transport; coenzyme biosynthetic process; water-soluble vitamin metabolic process; transport; pantothenate metabolic process; small molecule metabolic process; vitamin metabolic process | 10q21.3 |
| SLC25A17 | fatty acid alpha-oxidation; fatty acid beta-oxidation; ATP transport; fatty acid transport; cellular lipid metabolic process; small molecule metabolic process; transmembrane transport | 22q13.2 |
| SLC25A18 | transmembrane transport | 22q11.2 |
| SLC25A19 | transmembrane transport; deoxynucleotide transport | 17q25.3 |
| SLC25A1P1 | - | 11q14.2 |
| SLC25A1P3 | - | 7q11.21 |
| SLC25A1P5 | - | 19q11 |
| SLC25A2 | small molecule metabolic process; cellular nitrogen compound metabolic process; transport; mitochondrial ornithine transport; urea cycle | 5q31 |
| SLC25A20 | small molecule metabolic process; regulation of fatty acid oxidation; cellular lipid metabolic process; carnitine shuttle; transport | 3p21.31 |
| SLC25A21 | cellular nitrogen compound metabolic process; transmembrane transport; small molecule metabolic process; lysine catabolic process | 14q11.2 |
| SLC25A21-AS1 | - | 14q13.3 |
| SLC25A22 | transmembrane transport; L-glutamate transport | 11p15.5 |
| SLC25A23 | transmembrane transport | 19p13.3 |
| SLC25A24 | transmembrane transport | 1p13.3 |
| SLC25A25 | transmembrane transport | 9q34.11 |
| SLC25A25-AS1 | - | 9q34.11 |
| SLC25A26 | transport; S-adenosylmethionine transport | 3p14.1 |
| SLC25A27 | transport; generation of precursor metabolites and energy | 6p12.3 |
| SLC25A28 | ion transport; iron ion homeostasis | 10q24.2 |
| SLC25A29 | transmembrane transport | 14q32.2 |
| SLC25A3 | generation of precursor metabolites and energy; transport | 12q23 |
| SLC25A30 | transport; mitochondrial transport | 13q14.13 |
| SLC25A31 | transmembrane transport | 4q28.1 |
| SLC25A32 | folic acid metabolic process; small molecule metabolic process; folic acid transport; mitochondrial transport; vitamin metabolic process; transport; water-soluble vitamin metabolic process | 8q22.3 |
| SLC25A33 | transport | 1p36.22 |
| SLC25A34 | transport | 1p36.21 |
| SLC25A35 | transport | 17p13.1 |
| SLC25A36 | transmembrane transport; response to estradiol stimulus | 3q23 |
| SLC25A37 | iron ion homeostasis; ion transport | 8p21.2 |
| SLC25A38 | heme biosynthetic process; erythrocyte differentiation; transport | 3p22.1 |
| SLC25A39 | heme biosynthetic process; transport | 17q12 |
| SLC25A39P1 | - | - |
| SLC25A3P1 | - | 1p32.3 |
| SLC25A3P2 | - | 12q24.13 |
| SLC25A4 | ATP transport; negative regulation of necrotic cell death; transmembrane transport; glutamate uptake involved in synaptic transmission; regulation of insulin secretion; interspecies interaction between organisms; small molecule metabolic process; viral reproduction; ADP transport; adenine transport; mitochondrial genome maintenance; generation of precursor metabolites and energy; energy reserve metabolic process; transport; apoptotic mitochondrial changes | 4q35 |
| SLC25A40 | transmembrane transport | 7q21.12 |
| SLC25A41 | transmembrane transport | 19p13.3 |
| SLC25A42 | transmembrane transport | 19p13.11 |
| SLC25A43 | transmembrane transport | Xq24 |
| SLC25A44 | transmembrane transport | 1q22 |
| SLC25A45 | transmembrane transport | 11q13.1 |
| SLC25A46 | transport | 5q22.1 |
| SLC25A48 | transmembrane transport | 5q31.1 |
| SLC25A5 | small molecule metabolic process; interspecies interaction between organisms; viral reproduction; adenine transport; chromosome segregation; transport; energy reserve metabolic process; regulation of insulin secretion; transmembrane transport | Xq24 |
| SLC25A5-AS1 | - | - |
| SLC25A51 | transport | 9p13.3-p12 |
| SLC25A51P1 | - | 6q12 |
| SLC25A51P3 | - | 8q21.13 |
| SLC25A53 | transport | Xq22.2 |
| SLC25A5P1 | - | 22q13.2 |
| SLC25A5P2 | - | 2p22.3 |
| SLC25A5P3 | - | 7p11.2 |
| SLC25A5P4 | - | 13q21.1 |
| SLC25A5P7 | - | 6q22.31 |
| SLC25A5P8 | - | 9p21.1 |
| SLC25A5P9 | - | 5q13.3 |
| SLC25A6 | virus-host interaction; viral reproduction; viral infectious cycle; small molecule metabolic process; apoptotic process; transmembrane transport; regulation of insulin secretion; active induction of host immune response by virus; interspecies interaction between organisms; energy reserve metabolic process | Xp22.32 and Yp11.3 |
| SLC25A6P2 | - | 9p21.1 |
| SLC25A6P3 | - | - |
| SLC25A6P5 | - | 9q31.2 |
| SLC25A6P6 | - | 6q13 |
| SLC26A1 | ion transport; transmembrane transport; ion transmembrane transport; sulfate transport | 4p16.3 |
| SLC26A10 | transmembrane transport; regulation of Rho protein signal transduction | 12q13 |
| SLC26A11 | transmembrane transport; ion transport; sulfate transport | 17q25.3 |
| SLC26A2 | ossification; ion transport; sulfate transport; transmembrane transport | 5q31-q34 |
| SLC26A3 | transmembrane transport; ion transmembrane transport; sulfate transport; excretion; anion transport; ion transport; regulation of transcription, DNA-dependent | 7q31 |
| SLC26A4 | transmembrane transport; regulation of protein localization; iodide transport; inorganic anion transport; sulfate transport; sensory perception of sound; regulation of pH; chloride transport; ion transport | 7q31 |
| SLC26A4-AS1 | - | 7q22.3 |
| SLC26A5 | sensory perception of sound; regulation of cell shape; regulation of membrane potential; sulfate transport; transmembrane transport | 7q22.1 |
| SLC26A7 | oxalate transport; ion transport; chloride transport; sulfate transport; bicarbonate transport; transmembrane transport | 8q23 |
| SLC26A8 | chloride transport; oxalate transport; meiosis; multicellular organismal development; transmembrane transport; ion transport; spermatogenesis; cell differentiation; sulfate transport | 6p21 |
| SLC26A9 | ion transport; transmembrane transport; ion transmembrane transport; sulfate transport; regulation of pH; chloride transport | 1q32.1 |
| SLC27A1 | response to insulin stimulus; cardiolipin biosynthetic process; adiponectin-mediated signaling pathway; positive regulation of heat generation; cellular lipid metabolic process; small molecule metabolic process; transmembrane transport; negative regulation of phospholipid biosynthetic process; long-chain fatty acid transport; response to cold; phosphatidylinositol biosynthetic process; phosphatidylethanolamine biosynthetic process; phosphatidic acid biosynthetic process; phosphatidylglycerol biosynthetic process; phosphatidylcholine biosynthetic process; phosphatidylserine biosynthetic process; fatty acid metabolic process; medium-chain fatty acid transport; positive regulation of protein serine/threonine kinase activity | 19p13.11 |
| SLC27A2 | very long-chain fatty acid catabolic process; bile acid metabolic process; bile acid biosynthetic process; fatty acid beta-oxidation; fatty acid alpha-oxidation; methyl-branched fatty acid metabolic process; small molecule metabolic process; cellular lipid metabolic process | 15q21.2 |
| SLC27A3 | fatty acid metabolic process; lipid metabolic process | 1q21.3 |
| SLC27A4 | fatty acid transport; skin development; very long-chain fatty acid catabolic process; transmembrane transport; response to nutrient; transport; lipid metabolic process; medium-chain fatty acid transport; long-chain fatty acid transport | 9q34.11 |
| SLC27A5 | very long-chain fatty acid metabolic process; bile acid and bile salt transport; plasma membrane long-chain fatty acid transport; small molecule metabolic process; ketone body biosynthetic process; bile acid metabolic process; bile acid biosynthetic process; triglyceride mobilization; fatty acid metabolic process; lipid metabolic process | 19q13.43 |
| SLC27A6 | long-chain fatty acid transport; transmembrane transport; very long-chain fatty acid metabolic process; lipid metabolic process; fatty acid metabolic process; lipid transport | 5q23.3 |
| SLC28A1 | nucleobase-containing compound metabolic process; nucleoside transport; transmembrane transport | 15q25.3 |
| SLC28A2 | transmembrane transport; nucleobase-containing compound metabolic process; purine nucleoside transmembrane transport; purine nucleoside transport | 15q15 |
| SLC28A3 | pyrimidine nucleoside transport; purine base transport; retina homeostasis; sodium ion export; transmembrane transport; pyrimidine base transport; purine nucleoside transmembrane transport | 9q22.2 |
| SLC29A1 | cellular response to hypoxia; nucleobase-containing compound metabolic process; lactation; nucleoside transport; uridine transport; sleep; transmembrane transport; regulation of excitatory postsynaptic membrane potential; cellular response to glucose stimulus | 6p21.1 |
| SLC29A2 | cellular response to insulin stimulus; lactation; nucleobase-containing compound metabolic process; hypoxanthine transport; thymine transport; transmembrane transport; uridine transport; nucleoside transport; guanine transport; adenine transport; cell proliferation | 11q13 |
| SLC29A3 | transmembrane transport | 10q22.1 |
| SLC29A4 | transmembrane transport | 7p22.1 |
| SLC29A4P1 | - | 7p11.2 |
| SLC2A1 | energy reserve metabolic process; regulation of insulin secretion; small molecule metabolic process; transmembrane transport; cellular response to glucose starvation; hexose transmembrane transport; L-ascorbic acid metabolic process; glucose transport; hexose transport; carbohydrate transport; response to osmotic stress; water-soluble vitamin metabolic process; vitamin metabolic process; carbohydrate metabolic process | 1p34.2 |
| SLC2A1-AS1 | - | 1p34.2 |
| SLC2A10 | transmembrane transport; glucose transport; carbohydrate transport | 20q13.1 |
| SLC2A11 | carbohydrate transport; transmembrane transport | 22q11.23 |
| SLC2A12 | transmembrane transport; carbohydrate transport | 6q23.2 |
| SLC2A13 | transmembrane transport | 12q12 |
| SLC2A14 | cell differentiation; multicellular organismal development; spermatogenesis; carbohydrate transport | 12p13.31 |
| SLC2A2 | transmembrane transport; energy reserve metabolic process; carbohydrate transport; hexose transport; response to glucose stimulus; fructose transport; glucose transport; endocrine pancreas development; hexose transmembrane transport; carbohydrate metabolic process; response to peptide hormone stimulus; small molecule metabolic process; regulation of insulin secretion | 3q26.1-q26.2 |
| SLC2A3 | carbohydrate metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; carbohydrate transport; hexose transport; glucose transport; L-ascorbic acid metabolic process; small molecule metabolic process; transmembrane transport | 12p13.3 |
| SLC2A3P2 | - | 1p31.3 |
| SLC2A3P4 | - | 8q21.3 |
| SLC2A4 | carbohydrate metabolic process; carbohydrate transport; hexose transport; glucose transport; cellular response to insulin stimulus; glucose homeostasis; small molecule metabolic process; response to ethanol; glucose import; brown fat cell differentiation; transmembrane transport | 17p13 |
| SLC2A4RG | regulation of transcription, DNA-dependent | 20q13.33 |
| SLC2A5 | carbohydrate metabolic process; carbohydrate transport; hexose transport; fructose transport; glucose transport; small molecule metabolic process; transmembrane transport | 1p36.2 |
| SLC2A6 | transmembrane transport; glucose transport; carbohydrate transport | 9q34 |
| SLC2A7 | transmembrane transport; carbohydrate transport | 1p36.2 |
| SLC2A8 | transmembrane transport; hexose transmembrane transport; glucose transport; carbohydrate transport; insulin receptor signaling pathway; male meiosis I; response to hypoxia; carbohydrate metabolic process | 9q33.3 |
| SLC2A9 | carbohydrate transport; glucose transport; transmembrane transport; urate metabolic process; hexose transmembrane transport | 4p16.1 |
| SLC30A1 | negative regulation of calcium ion import; in utero embryonic development; zinc ion transport; cellular calcium ion homeostasis; cellular zinc ion homeostasis; negative regulation of neurotransmitter secretion; transmembrane transport; cadmium ion transmembrane transport; negative regulation of zinc ion import; detoxification of cadmium ion | 1q32.3 |
| SLC30A10 | transmembrane transport; zinc ion transport | 1q41 |
| SLC30A2 | zinc ion transport; transmembrane transport; positive regulation of sequestering of zinc ion | 1p35.3 |
| SLC30A3 | transport; zinc ion transport; positive regulation of transport; transmembrane transport; regulation of sequestering of zinc ion | 2p23.3 |
| SLC30A4 | transmembrane transport; lactation; response to toxin; response to zinc ion; response to vitamin A; zinc ion transmembrane transport; regulation of sequestering of zinc ion; zinc ion homeostasis | 15q21.1|15q21.1 |
| SLC30A5 | zinc ion transmembrane transport; cobalt ion transport; zinc ion transport; cellular zinc ion homeostasis; response to zinc ion; regulation of proton transport; transmembrane transport | 5q12.1 |
| SLC30A6 | zinc ion transport; transmembrane transport | 2p22.3 |
| SLC30A7 | transmembrane transport; sequestering of zinc ion; zinc ion transport | 1p21.2 |
| SLC30A8 | zinc ion transport; glucose homeostasis; response to glucose stimulus; insulin secretion; cellular zinc ion homeostasis; regulation of sequestering of zinc ion; response to interleukin-1; regulation of vesicle-mediated transport; transmembrane transport; positive regulation of insulin secretion; zinc ion transmembrane transport; sequestering of zinc ion; response to interferon-gamma | 8q24.11 |
| SLC30A9 | nucleotide-excision repair; regulation of transcription, DNA-dependent; zinc ion transport; transmembrane transport | 4p13 |
| SLC31A1 | transmembrane transport; copper ion transmembrane transport; copper ion transport; ion transport | 9q32 |
| SLC31A1P1 | - | 3q26.31 |
| SLC31A2 | ion transport; copper ion transport; copper ion transmembrane transport | 9q32 |
| SLC32A1 | synaptic transmission; neurotransmitter secretion; aging; gamma-aminobutyric acid transport; proton transport; transmembrane transport; sodium ion export; ion transport; amino acid transmembrane transport | 20q11.23 |
| SLC33A1 | transmembrane transport; acetyl-CoA transport; cell death; transport | 3q25.31 |
| SLC34A1 | transmembrane transport; ion transport; sodium ion transport; phosphate ion transport; response to lead ion; response to magnesium ion; sodium-dependent phosphate transport; response to cadmium ion; response to mercury ion; bone remodeling; phosphate ion homeostasis | 5q35 |
| SLC34A2 | phosphate ion transport; aging; response to fructose stimulus; cellular phosphate ion homeostasis; sodium ion transport; ion transport; in utero embryonic development; response to estradiol stimulus; phosphate ion transmembrane transport; response to estrogen stimulus; sodium-dependent phosphate transport; transmembrane transport | 4p15.2 |
| SLC34A3 | ion transport; sodium-dependent phosphate transport; cellular phosphate ion homeostasis; phosphate ion transport; sodium ion transport; transmembrane transport | 9q34 |
| SLC35A1 | protein modification process; transport; CMP-N-acetylneuraminate transport; carbohydrate metabolic process; transmembrane transport | 6q15 |
| SLC35A2 | UDP-galactose transmembrane transport; transmembrane transport; UDP-galactose transport; galactose metabolic process | Xp11.23-p11.22 |
| SLC35A3 | transmembrane transport; UDP-N-acetylglucosamine transport; transport; UDP-N-acetylglucosamine metabolic process | 1p21 |
| SLC35A4 | transport; carbohydrate transport | 5q31.3 |
| SLC35A5 | transport | 3q13.2 |
| SLC35B1 | transmembrane transport; carbohydrate transport; transport; UDP-galactose transmembrane transport | 17q21.33 |
| SLC35B3 | transmembrane transport | 6p24.3 |
| SLC35B4 | carbohydrate transport; UDP-N-acetylglucosamine transport; UDP-xylose transport; transmembrane transport | 7q33 |
| SLC35C1 | carbohydrate transport; lipid glycosylation; transmembrane transport | 11p11.2 |
| SLC35C2 | transport | 20q13.12 |
| SLC35D1 | transmembrane transport; small molecule metabolic process; chondroitin sulfate biosynthetic process; UDP-N-acetylgalactosamine transport; UDP-glucuronic acid transport; carbohydrate transport; xenobiotic metabolic process; UDP-glucuronate biosynthetic process | 1p32-p31 |
| SLC35D2 | nucleotide-sugar transport; transmembrane transport | 9q22.32 |
| SLC35D3 | transport; carbohydrate transport | 6q23.3 |
| SLC35E1 | transport | 19p13.11 |
| SLC35E1P1 | - | 13q12.11 |
| SLC35E2 | - | 1p36.33 |
| SLC35E2B | - | 1p36.33 |
| SLC35E3 | - | 12q15 |
| SLC35F1 | transport | 6q22.31 |
| SLC35F2 | transport | 11q22.3 |
| SLC35F3 | transport | 1q42.2 |
| SLC35F4 | transport | 14q22.2 |
| SLC35F5 | transport | 2q14.1 |
| SLC35F6 | - | 2p23.3 |
| SLC35G1 | - | 10q23.33 |
| SLC35G2 | - | 3q22.3 |
| SLC35G3 | - | 17q12 |
| SLC35G4 | - | 18p11.21 |
| SLC35G5 | - | 8p23.1 |
| SLC35G6 | - | 17p13.1 |
| SLC36A1 | amino acid transport; transmembrane transport; ion transport | 5q33.1 |
| SLC36A2 | ion transmembrane transport; ion transport; proline transmembrane transport; transmembrane transport; proton transport; amino acid transport; glycine transport | 5q33.1 |
| SLC36A3 | - | 5q33.1 |
| SLC36A4 | transport; tryptophan transport; proline transport; amino acid transport; L-alanine transport | 11q21 |
| SLC37A1 | carbohydrate transport; transmembrane transport | 21q22.3 |
| SLC37A2 | transmembrane transport; carbohydrate transport | 11q24.2 |
| SLC37A3 | carbohydrate transport; transmembrane transport | 7q34 |
| SLC37A4 | glucose transport; carbohydrate transport; glucose-6-phosphate transport; glucose homeostasis; small molecule metabolic process; transmembrane transport; hexose transport; transport; carbohydrate metabolic process; glucose metabolic process | 11q23.3 |
| SLC38A1 | neutral amino acid transport; neurotransmitter uptake; ion transport; sodium ion transport; amino acid transport; synaptic transmission; transmembrane transport | 12q13.11 |
| SLC38A10 | ion transport; amino acid transport; sodium ion transport | 17q25.3 |
| SLC38A11 | amino acid transport; sodium ion transport; ion transport | 2q24.3 |
| SLC38A2 | transmembrane transport; glutamate secretion; neurotransmitter secretion; synaptic transmission; amino acid transport; sodium ion transport; ion transport | 12q |
| SLC38A3 | ion transport; transmembrane transport; histidine transport; L-alanine transport; glutamine transport; asparagine transport; amino acid transport; sodium ion transport | 3p21.3 |
| SLC38A4 | transmembrane transport; sodium ion transport; ion transport; amino acid transport | 12q13 |
| SLC38A5 | transmembrane transport; amino acid transport; ion transport | Xp11.23 |
| SLC38A6 | amino acid transport; sodium ion transport; ion transport | 14q23.1 |
| SLC38A7 | L-amino acid transport; glutamine transport; sodium ion transport; ion transport | 16q21 |
| SLC38A8 | ion transport; amino acid transport; sodium ion transport | 16q23.3 |
| SLC38A9 | amino acid transport; ion transport; sodium ion transport | 5q11.2 |
| SLC39A1 | transmembrane transport; cation transport; zinc ion transmembrane transport | 1q21 |
| SLC39A10 | zinc ion transport; ion transport; transmembrane transport | 2q32.3 |
| SLC39A11 | transmembrane transport; zinc ion transport; ion transport | 17q21.31 |
| SLC39A12 | transmembrane transport; zinc ion transport; ion transport | 10p12.33 |
| SLC39A13 | zinc ion transmembrane transport; ion transport; cellular zinc ion homeostasis; transmembrane transport | 11p11.2 |
| SLC39A14 | transmembrane transport; zinc ion import; ion transport; zinc ion transmembrane transport; cellular zinc ion homeostasis | 8p21.3 |
| SLC39A2 | zinc ion transmembrane transport; ion transport; zinc ion transport; transmembrane transport | 14q11.2 |
| SLC39A3 | ion transport; transmembrane transport | 19p13.3 |
| SLC39A4 | cellular response to zinc ion starvation; ion transport; cellular zinc ion homeostasis; transmembrane transport | 8q24.3 |
| SLC39A5 | zinc ion transport; transmembrane transport; ion transport; cellular response to zinc ion starvation | 12q13.3 |
| SLC39A6 | transmembrane transport; zinc ion import; zinc ion transmembrane transport; cellular zinc ion homeostasis; ion transport | 18q12.2 |
| SLC39A7 | zinc ion transport; transmembrane transport; ion transport | 6p21.3 |
| SLC39A8 | transmembrane transport; ion transport; zinc ion transport | 4q22-q24 |
| SLC39A9 | transmembrane transport; zinc ion transport; ion transport | 14q24.1 |
| SLC3A1 | cellular amino acid metabolic process; transmembrane transport; L-cystine transport; basic amino acid transport; amino acid transport; carbohydrate metabolic process; amino acid transmembrane transport; ion transport | 2p16.3 |
| SLC3A2 | carbohydrate metabolic process; leucine import; transmembrane transport; leukocyte migration; cell growth; tryptophan transport; blood coagulation; amino acid transport; calcium ion transport; ion transport | 11q13 |
| SLC40A1 | lymphocyte homeostasis; endothelium development; ion transport; transmembrane transport; iron ion transmembrane transport; anatomical structure morphogenesis; spleen trabecula formation; multicellular organismal iron ion homeostasis; apoptotic process; cellular iron ion homeostasis | 2q32 |
| SLC41A1 | transmembrane transport | 1q32.1 |
| SLC41A2 | transmembrane transport | 12q23.3 |
| SLC41A3 | - | 3q21.2 |
| SLC43A1 | ion transport; transmembrane transport; neutral amino acid transport; amino acid transport; amino acid transmembrane transport | 11q12.1 |
| SLC43A2 | amino acid transport; amino acid transmembrane transport; ion transport; transmembrane transport | 17p13.3 |
| SLC43A3 | transmembrane transport | 11q11 |
| SLC44A1 | transmembrane transport; choline transport | 9q31.2 |
| SLC44A2 | positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction; choline transport; transmembrane transport | 19p13.1 |
| SLC44A3 | transmembrane transport | 1p21.3 |
| SLC44A4 | transmembrane transport | 6p21.3 |
| SLC44A5 | transmembrane transport | 1p31.1 |
| SLC45A1 | transmembrane transport; carbohydrate transport | 1p36.23 |
| SLC45A2 | melanin biosynthetic process; response to stimulus; developmental pigmentation; visual perception | 5p13.2 |
| SLC45A3 | transmembrane transport | 1q32.1 |
| SLC45A4 | transport | 8q24.3 |
| SLC46A1 | vitamin metabolic process; water-soluble vitamin metabolic process; cellular iron ion homeostasis; folic acid transport; small molecule metabolic process; folic acid metabolic process; transmembrane transport | 17q11.2 |
| SLC46A2 | transmembrane transport; transport | 9q32 |
| SLC46A3 | transmembrane transport | 13q12.3 |
| SLC47A1 | organic cation transport; transmembrane transport | 17p11.2 |
| SLC47A2 | transmembrane transport | 17p11.2 |
| SLC48A1 | transport | 12q13.11 |
| SLC4A1 | anion transport; ion transport; ion transmembrane transport; chloride transport; cellular ion homeostasis; bicarbonate transport; transmembrane transport | 17q21.31 |
| SLC4A10 | chloride transport; regulation of pH; bicarbonate transport; ion transmembrane transport; transmembrane transport; sodium ion transport; ion transport | 2q24.2 |
| SLC4A11 | sodium ion transmembrane transport; borate transport; fluid transport; borate transmembrane transport; proton transport; sodium ion transport; bicarbonate transport; cellular cation homeostasis; phosphoenolpyruvate-dependent sugar phosphotransferase system | 20p12 |
| SLC4A1AP | - | 2p23.3 |
| SLC4A2 | anion transport; ion transport; bicarbonate transport; ion transmembrane transport; transmembrane transport | 7q36.1 |
| SLC4A3 | transport; transmembrane transport; regulation of intracellular pH; ion transmembrane transport; bicarbonate transport; ion transport | 2q36 |
| SLC4A4 | transport; ion transport; sodium ion transport; bicarbonate transport; transmembrane transport | 4q21 |
| SLC4A5 | sodium ion transport; transmembrane transport; bicarbonate transport; ion transport | 2p13 |
| SLC4A7 | sodium ion transport; ion transport; transmembrane transport; bicarbonate transport | 3p22 |
| SLC4A8 | ion transport; transmembrane transport; sodium ion transport; bicarbonate transport | 12q13.13 |
| SLC4A9 | ion transport; bicarbonate transport; transmembrane transport | 5q31 |
| SLC50A1 | transport; carbohydrate transport; glucoside transport; positive regulation of gene expression, epigenetic | 1q22 |
| SLC51A | - | 3q29 |
| SLC51B | - | 15q22.31 |
| SLC52A1 | transport; riboflavin transport | 17p13.2 |
| SLC52A2 | transport; riboflavin transport | 8q24.3 |
| SLC52A3 | riboflavin transport; cellular response to heat; sensory perception of sound; transport | 20p13 |
| SLC5A1 | carbohydrate metabolic process; glucose transport; hexose transport; carbohydrate transport; sodium ion transport; ion transport; hexose transmembrane transport; small molecule metabolic process; intestinal absorption; transmembrane transport; metanephros development | 22q12.3 |
| SLC5A10 | ion transport; sodium ion transport; transmembrane transport | 17p11.2 |
| SLC5A11 | apoptotic process; ion transport; sodium ion transport; transmembrane transport; carbohydrate transport | 16p12.1 |
| SLC5A12 | transmembrane transport; ion transport; sodium ion transport | 11p14.2 |
| SLC5A2 | carbohydrate metabolic process; transport; ion transport; sodium ion transport; carbohydrate transport; glucose transport; transmembrane transport | 16p11.2 |
| SLC5A3 | transmembrane transport; inositol metabolic process; transport; ion transport; sodium ion transport; peripheral nervous system development; myo-inositol transport; regulation of respiratory gaseous exchange | 21q22.12 |
| SLC5A4 | ion transport; sodium ion transport; carbohydrate transport; transmembrane transport | 22q12.3 |
| SLC5A5 | thyroid hormone generation; transport; ion transport; sodium ion transport; iodide transport; cellular nitrogen compound metabolic process; small molecule metabolic process; transmembrane transport; cellular response to cAMP; cellular response to gonadotropin stimulus | 19p13.11 |
| SLC5A6 | vitamin metabolic process; water-soluble vitamin metabolic process; biotin metabolic process; transport; ion transport; sodium ion transport; biotin transport; pantothenate transmembrane transport; pantothenate metabolic process; small molecule metabolic process; transmembrane transport | 2p23 |
| SLC5A7 | choline transport; neuromuscular synaptic transmission; transmembrane transport; acetylcholine biosynthetic process; synaptic transmission, cholinergic; neurotransmitter secretion; synaptic transmission; sodium ion transport; ion transport | 2q12 |
| SLC5A8 | sodium ion transport; transmembrane transport; apoptotic process; ion transport | 12q23.1 |
| SLC5A9 | ion transport; sodium ion transport; transmembrane transport | 1p33 |
| SLC6A1 | response to toxin; response to purine-containing compound; negative regulation of synaptic transmission, GABAergic; response to estradiol stimulus; response to cocaine; positive regulation of gamma-aminobutyric acid secretion; response to lead ion; response to organic nitrogen; response to sucrose stimulus; protein homooligomerization; response to calcium ion; gamma-aminobutyric acid import; transmembrane transport; neurotransmitter secretion; learning; transport; synaptic transmission | 3p25.3 |
| SLC6A11 | neurotransmitter transport; synaptic transmission; neurotransmitter secretion; brain development; transmembrane transport; response to drug | 3p25.3 |
| SLC6A12 | cellular hyperosmotic response; transmembrane transport; response to organic substance; cellular water homeostasis; neurotransmitter secretion; synaptic transmission; amino acid transport; ion transport; transport | 12p13 |
| SLC6A13 | synaptic transmission; transmembrane transport; neurotransmitter secretion; neurotransmitter transport | 12p13.3 |
| SLC6A14 | cellular amino acid metabolic process; transport; response to toxin; ion transport; amino acid transmembrane transport; amino acid transport; neurotransmitter transport; transmembrane transport | Xq23 |
| SLC6A15 | ion transport; sodium ion transport; neurotransmitter transport; amino acid transport; neutral amino acid transport; L-amino acid transport; leucine transport; proline transport; proline transmembrane transport; transmembrane transport; sodium ion export | 12q21.3 |
| SLC6A16 | neurotransmitter transport | 19q13.33 |
| SLC6A17 | leucine transport; neurotransmitter transport; neutral amino acid transport; glycine transport; alanine transport; proline transport | 1p13.3 |
| SLC6A18 | transmembrane transport; response to osmotic stress; amino acid transport; neurotransmitter transport; ion transport | 5p15.33 |
| SLC6A19 | transmembrane transport; response to nutrient; amino acid transport; neurotransmitter transport; amino acid transmembrane transport; ion transport | 5p15.33 |
| SLC6A2 | response to pain; transport; neurotransmitter transport; synaptic transmission; monoamine transport; transmembrane transport | 16q12.2 |
| SLC6A20 | glycine transport; amino acid transmembrane transport; transmembrane transport; amino acid transport; neurotransmitter transport; proline transport; ion transport | 3p21.3 |
| SLC6A3 | aging; positive regulation of multicellular organism growth; prepulse inhibition; lactation; sensory perception of smell; locomotory behavior; cell death; response to iron ion; monoamine transport; dopamine transport; adenohypophysis development; response to nicotine; transport; regulation of dopamine metabolic process; neurotransmitter biosynthetic process; response to cocaine; dopamine biosynthetic process; dopamine catabolic process; response to drug; response to ethanol; response to cAMP; transmembrane transport; neurotransmitter transport; synaptic transmission | 5p15.3 |
| SLC6A4 | response to estradiol stimulus; response to organic substance; cellular response to cGMP; cellular response to retinoic acid; serotonin uptake; protein homooligomerization; protein oligomerization; positive regulation of cell cycle; negative regulation of neuron differentiation; sperm ejaculation; response to drug; vasoconstriction; circadian rhythm; negative regulation of synaptic transmission, dopaminergic; negative regulation of cerebellar granule cell precursor proliferation; thalamus development; monoamine transport; positive regulation of gene expression; response to toxin; response to hypoxia; neurotransmitter transport; serotonin transport; brain development; response to nutrient; memory | 17q11.2 |
| SLC6A5 | transmembrane transport; synaptic transmission; neurotransmitter transport; transport | 11p15.1 |
| SLC6A6 | transmembrane transport; amino acid transport; neurotransmitter transport; ion transport; transport; cellular amino acid metabolic process; amino acid transmembrane transport | 3p25.1 |
| SLC6A6P1 | - | 21q21.1 |
| SLC6A7 | transport; neurotransmitter transport; amino acid transport; proline transport; transmembrane transport | 5q32 |
| SLC6A8 | small molecule metabolic process; cellular nitrogen compound metabolic process; creatine transport; creatine metabolic process; transport; ion transport; sodium ion transport; neurotransmitter transport; muscle contraction | Xq28 |
| SLC6A9 | transport; amino acid transmembrane transport; neurotransmitter transport; transmembrane transport | 1p33 |
| SLC7A1 | transport; transmembrane transport; regulation of TOR signaling cascade; L-amino acid transport; amino acid transport; ion transport | 13q12.3 |
| SLC7A10 | ion transport; amino acid transport; blood coagulation; neutral amino acid transport; L-serine transport; D-alanine transport; D-serine transport; leukocyte migration; transmembrane transport | 19q13.1 |
| SLC7A11 | lens fiber cell differentiation; transmembrane transport; leukocyte migration; response to nicotine; response to toxin; blood coagulation; brain development; response to oxidative stress; amino acid transport; ion transport | 4q28-q32 |
| SLC7A11-AS1 | - | 4q28.3 |
| SLC7A13 | transport | 8q21.3 |
| SLC7A14 | negative regulation of phosphatase activity; transport | 3q26.2 |
| SLC7A15P | - | 2p24.1 |
| SLC7A2 | nitric oxide production involved in inflammatory response; cellular amino acid metabolic process; transmembrane transport; regulation of inflammatory response; regulation of macrophage activation; basic amino acid transport; amino acid transport; ion transport; transport; nitric oxide biosynthetic process | 8p22 |
| SLC7A3 | L-amino acid transport; ion transport; amino acid transport; cation transport; regulation of TOR signaling cascade; ion transmembrane transport; transmembrane transport | Xq13.1 |
| SLC7A4 | transport; basic amino acid transport; cellular amino acid metabolic process | 22q11.21 |
| SLC7A5 | cell differentiation; leukocyte migration; nervous system development; multicellular organismal development; amino acid transport; neutral amino acid transport; blood coagulation; transmembrane transport; ion transport; transport; cellular amino acid metabolic process; amino acid transmembrane transport | 16q24.3 |
| SLC7A5P2 | - | 16p12.2 |
| SLC7A6 | ion transport; blood coagulation; transmembrane transport; amino acid transport; amino acid transmembrane transport; transport; cellular amino acid metabolic process; protein complex assembly; leukocyte migration | 16q22.1 |
| SLC7A6OS | protein transport | 16q22.1 |
| SLC7A7 | protein complex assembly; ion transport; cellular amino acid metabolic process; transport; amino acid transport; blood coagulation; leukocyte migration; transmembrane transport | 14q11.2 |
| SLC7A8 | amino acid transport; amino acid transmembrane transport; ion transport; cellular amino acid metabolic process; transport; transmembrane transport; response to toxin; organic cation transport; neutral amino acid transport; leukocyte migration; blood coagulation; metal ion homeostasis | 14q11.2 |
| SLC7A9 | amino acid transmembrane transport; leukocyte migration; protein complex assembly; cellular amino acid metabolic process; transport; ion transport; transmembrane transport; L-cystine transport; amino acid transport; blood coagulation; neutral amino acid transport | 19q13.1 |
| SLC8A1 | cytosolic calcium ion transport; calcium ion transport into cytosol; calcium ion transmembrane transport; response to glucose stimulus; cellular response to cAMP; regulation of sodium ion transport; blood coagulation; response to nutrient; cell communication; muscle contraction; cellular calcium ion homeostasis; calcium ion transport; sodium ion transport; ion transport; sodium ion export; response to hypoxia; telencephalon development; response to ATP; response to drug; response to hydrogen peroxide; regulation of calcium ion transport; transmembrane transport | 2p22.1 |
| SLC8A1-AS1 | - | 2p22.1 |
| SLC8A2 | response to vitamin D; sodium ion transport; ion transport; calcium ion transport into cytosol; transmembrane transport; telencephalon development; blood coagulation; cell communication; calcium ion transport | 19q13.3 |
| SLC8A3 | sodium ion transport; ion transport; calcium ion transport; cell communication; blood coagulation; telencephalon development; transmembrane transport; calcium ion transport into cytosol; cellular response to cAMP | 14q24.1 |
| SLC8B1 | sodium ion transport; calcium ion transport; ion transport; response to stimulus; transmembrane transport | 12q24.13 |
| SLC9A1 | transmembrane transport; response to acid; ion transport; cation transport; sodium ion transport; regulation of pH; intracellular protein kinase cascade; response to acidity; response to organic cyclic compound; proton transport; cell growth; cell differentiation; response to drug; positive regulation of anti-apoptosis; sodium ion export | 1p36.1-p35 |
| SLC9A2 | ion transport; cation transport; sodium ion transport; regulation of pH; protein localization; proton transport; transmembrane transport; sodium ion export | 2q11.2 |
| SLC9A3 | regulation of pH; circadian rhythm; response to glucocorticoid stimulus; transmembrane transport; regulation of sodium ion transport; ion transport; cation transport; receptor-mediated endocytosis | 5p15.3 |
| SLC9A3P1 | - | 10q11.23 |
| SLC9A3P2 | - | 22q11.21 |
| SLC9A3P3 | - | 10q11.23 |
| SLC9A3R1 | Wnt receptor signaling pathway; bile acid secretion; cAMP-mediated signaling; microvillus assembly; negative regulation of cell proliferation; actin cytoskeleton organization; negative regulation of cell migration; cellular phosphate ion homeostasis; regulation of sodium:hydrogen antiporter activity; negative regulation of sodium:hydrogen antiporter activity; activation of adenylate cyclase activity by dopamine receptor signaling pathway; apoptotic process; protein complex assembly; renal sodium ion transport; negative regulation of platelet-derived growth factor receptor signaling pathway; negative regulation of sodium ion transport; cellular protein localization; glutathione transport; regulation of excretion; regulation of protein kinase activity; negative regulation of protein kinase B signaling cascade; activation of phospholipase C activity by dopamine receptor signaling pathway; renal absorption; negative regulation of ERK1 and ERK2 cascade; negative regulation of phosphatidylinositol 3-kinase cascade | 17q25.1 |
| SLC9A3R2 | protein complex assembly; positive regulation of membrane potential; inner ear development | 16p13.3 |
| SLC9A4 | regulation of pH; sodium ion transport; cation transport; ion transport; transmembrane transport | 2q12.1 |
| SLC9A5 | sodium ion transport; transmembrane transport; proton transport; regulation of pH; cation transport; ion transport; transport | 16q22.1 |
| SLC9A6 | sodium ion transport; transport; ion transport; cation transport; transmembrane transport; regulation of pH | Xq26.3 |
| SLC9A7 | sodium ion transport; transmembrane transport; potassium ion transport; cation transport; ion transport; regulation of pH | Xp11.3|Xp11.3 |
| SLC9A7P1 | - | 12q23.1 |
| SLC9A8 | regulation of intracellular pH; proton transport; ion transport; cation transport; potassium ion transport; sodium ion transport; sodium ion export; transmembrane transport; regulation of pH | 20q13.13 |
| SLC9A9 | transmembrane transport; regulation of pH; sodium ion transport; ion transport; cation transport | 3q24 |
| SLC9B1 | transmembrane transport; cation transport | 4q24 |
| SLC9B2 | cation transport; transmembrane transport; proton transport; sodium ion transport | 4q24 |
| SLC9C1 | sodium ion transport; multicellular organismal development; spermatogenesis; cell differentiation; sperm motility; cation transport; transmembrane transport | 3q13.2 |
| SLC9C2 | cation transport; sodium ion transport; transmembrane transport | 1q25.1 |
| SLCO1A2 | transmembrane transport; small molecule metabolic process; sodium-independent organic anion transport; bile acid and bile salt transport; organic anion transport; bile acid metabolic process; ion transport | 12p12 |
| SLCO1B1 | transmembrane transport; small molecule metabolic process; sodium-independent organic anion transport; bile acid and bile salt transport; organic anion transport; bile acid metabolic process; ion transport | 12p |
| SLCO1B3 | bile acid and bile salt transport; transmembrane transport; ion transport; bile acid metabolic process; small molecule metabolic process; sodium-independent organic anion transport; organic anion transport | 12p12 |
| SLCO1B7 | - | 12p12.2 |
| SLCO1C1 | transmembrane transport; sodium-independent organic anion transport; ion transport | 12p12.2 |
| SLCO2A1 | transmembrane transport; sodium-independent organic anion transport; lipid transport | 3q21 |
| SLCO2B1 | ion transport; organic anion transport; sodium-independent organic anion transport; transmembrane transport | 11q13 |
| SLCO3A1 | ion transport; sodium-independent organic anion transport; transmembrane transport | 15q26 |
| SLCO4A1 | thyroid hormone metabolic process; ion transport; sodium-independent organic anion transport; transmembrane transport | 20q13.33 |
| SLCO4A1-AS1 | - | 20q13.33 |
| SLCO4C1 | spermatogenesis; cell differentiation; sodium-independent organic anion transport; multicellular organismal development; ion transport; transmembrane transport | 5q21.2 |
| SLCO5A1 | - | 8q13.3 |
| SLCO6A1 | - | 5q21.1 |
| SLED1 | - | 4q35.1 |
| SLF1 | - | 5q15 |
| SLF2 | - | 10q24.31 |
| SLFN11 | - | 17q12 |
| SLFN12 | - | 17q12 |
| SLFN12L | - | 17q12 |
| SLFN13 | - | 17q12 |
| SLFN14 | - | 17q12 |
| SLFN5 | cell differentiation | 17q12 |
| SLFNL1 | - | 1p34.2 |
| SLFNL1-AS1 | - | 1p34 |
| SLIRP | regulation of transcription, DNA-dependent | 14q24.3 |
| SLIT1 | negative regulation of synapse assembly; negative chemotaxis; forebrain morphogenesis; axon extension involved in axon guidance; negative regulation of axon extension involved in axon guidance; establishment of nucleus localization; dorsal/ventral axon guidance; retinal ganglion cell axon guidance; cell differentiation; chemorepulsion involved in embryonic olfactory bulb interneuron migration; spinal cord development; motor axon guidance; brain development; axon guidance; nervous system development; multicellular organismal development; tangential migration from the subventricular zone to the olfactory bulb | 10q23.3-q24 |
| SLIT2 | negative regulation of smooth muscle cell chemotaxis; negative regulation of smooth muscle cell migration; negative regulation of neutrophil chemotaxis; negative regulation of mononuclear cell migration; negative regulation of cellular response to growth factor stimulus; negative regulation of retinal ganglion cell axon guidance; response to cortisol stimulus; negative regulation of chemokine-mediated signaling pathway; cellular response to hormone stimulus; branching morphogenesis of a tube; axon extension involved in axon guidance; positive regulation of axonogenesis; Roundabout signaling pathway; positive regulation of apoptotic process; negative chemotaxis; induction of negative chemotaxis; negative regulation of small GTPase mediated signal transduction; chemorepulsion involved in embryonic olfactory bulb interneuron migration; apoptotic process involved in luteolysis; ureteric bud development; negative regulation of protein phosphorylation; cell migration involved in sprouting angiogenesis; negative reg | 4p15.2 |
| SLIT2-IT1 | - | - |
| SLIT3 | negative regulation of cell growth; negative regulation of chemokine-mediated signaling pathway; apoptotic process involved in luteolysis; response to cortisol stimulus; negative chemotaxis; axon extension involved in axon guidance; Roundabout signaling pathway; cellular response to hormone stimulus; cell differentiation; chemorepulsion involved in embryonic olfactory bulb interneuron migration; axon guidance; nervous system development; multicellular organismal development | 5q35 |
| SLITRK1 | axonogenesis | 13q31.1 |
| SLITRK2 | axonogenesis | Xq27.3 |
| SLITRK3 | axonogenesis | 3q26.1 |
| SLITRK4 | - | Xq27.3 |
| SLITRK5 | axonogenesis | 13q31.2 |
| SLITRK6 | axonogenesis | 13q31.1 |
| SLK | protein autophosphorylation; apoptotic process; nucleotide-excision repair | 10q24.33 |
| SLMAP | protein folding; muscle contraction | 3p21.2-p14.3 |
| SLN | calcium ion transport; regulation of calcium ion transport | 11q22-q23 |
| SLPI | negative regulation of endopeptidase activity; negative regulation of protein binding; negative regulation of viral genome replication | 20q12 |
| SLTM | regulation of transcription, DNA-dependent; apoptotic process | 15q22.1 |
| SLU7 | RNA splicing, via transesterification reactions; cellular response to stress; intracellular protein transport; nuclear mRNA splicing, via spliceosome; nuclear mRNA 3'-splice site recognition; alternative nuclear mRNA splicing, via spliceosome | 5q33.3 |
| SLURP1 | cell adhesion; cell activation | 8q24.3 |
| SLX4 | positive regulation of catalytic activity; DNA double-strand break processing involved in repair via single-strand annealing; double-strand break repair via homologous recombination; DNA repair; DNA recombination; nucleotide-excision repair | 16p13.3 |
| SLX4IP | - | 20p12.2 |
| SMA4 | - | 5q13.2 |
| SMA5 | - | 5q13 |
| SMAD1 | kidney development; homeostatic process; osteoblast fate commitment; regulation of transcription, DNA-dependent; protein phosphorylation; inflammatory response; signal transduction; transforming growth factor beta receptor signaling pathway; negative regulation of cell proliferation; gamete generation; SMAD protein complex assembly; embryonic pattern specification; response to organic nitrogen; positive regulation of gene expression; BMP signaling pathway; midbrain development; hindbrain development; primary miRNA processing; wound healing; response to drug; positive regulation of osteoblast differentiation; positive regulation of anti-apoptosis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of dendrite morphogenesis; positive regulation of cartilage development; cellular response to organic cyclic compound; mesodermal cell fate commitment; ureteric bud development; MAPK cascade | 4q31 |
| SMAD1-AS1 | - | 4q31.21 |
| SMAD2 | lung development; organ growth; insulin secretion; regulation of transforming growth factor beta receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; anterior/posterior pattern specification; embryonic pattern specification; post-embryonic development; response to glucose stimulus; negative regulation of cell proliferation; endoderm development; ureteric bud development; in utero embryonic development; mesoderm formation; transforming growth factor beta receptor signaling pathway; common-partner SMAD protein phosphorylation; SMAD protein complex assembly; zygotic specification of dorsal/ventral axis; gastrulation; primary miRNA processing; response to cholesterol; pericardium development; palate development; regulation of binding; embryonic cranial skeleton morphogenesis; embryonic foregut morphogenesis; developmental growth; paraxial mesoderm morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-depen | 18q21.1 |
| SMAD3 | positive regulation of interleukin-1 beta production; positive regulation of transforming growth factor beta3 production; regulation of transforming growth factor beta2 production; positive regulation of canonical Wnt receptor signaling pathway; embryonic foregut morphogenesis; positive regulation of cell migration; lens fiber cell differentiation; negative regulation of wound healing; transdifferentiation; pericardium development; positive regulation of focal adhesion assembly; positive regulation of stress fiber assembly; regulation of binding; positive regulation of positive chemotaxis; protein stabilization; regulation of immune response; negative regulation of inflammatory response; regulation of epithelial cell proliferation; embryonic cranial skeleton morphogenesis; negative regulation of osteoblast proliferation; developmental growth; paraxial mesoderm morphogenesis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of mitotic cell cycle; positive regulation of | 15q22.33 |
| SMAD4 | BMP signaling pathway; palate development; positive regulation of transforming growth factor beta receptor signaling pathway; somite rostral/caudal axis specification; regulation of transforming growth factor beta2 production; negative regulation of protein catabolic process; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; developmental growth; neuron fate commitment; tissue morphogenesis; sebaceous gland development; regulation of binding; regulation of hair follicle development; formation of anatomical boundary; negative regulation of cell growth; regulation of transforming growth factor beta receptor signaling pathway; neural crest cell differentiation; positive regulation of pathway-restricted SMAD protein phosphorylation; positive regulation of epithelial to mesenchymal transition; anterior/posterior pattern specification; negative regulation of cell proliferation; mesoderm deve | 18q21.1 |
| SMAD5 | embryonic pattern specification; positive regulation of transcription, DNA-dependent; BMP signaling pathway; transforming growth factor beta receptor signaling pathway; signal transduction | 5q31 |
| SMAD6 | response to laminar fluid shear stress; positive regulation of S phase of mitotic cell cycle; response to estrogen stimulus; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; negative regulation of pathway-restricted SMAD protein phosphorylation; cell-substrate adhesion; negative regulation of BMP signaling pathway; BMP signaling pathway; negative regulation of SMAD protein complex assembly; zygotic specification of dorsal/ventral axis; transforming growth factor beta receptor signaling pathway; immune response; ureteric bud development; negative regulation of transforming growth factor beta receptor signaling pathway | 15q21-q22 |
| SMAD7 | adherens junction assembly; response to laminar fluid shear stress; cellular protein complex localization; intracellular signal transduction; negative regulation of sequence-specific DNA binding transcription factor activity; positive regulation of anti-apoptosis; artery morphogenesis; protein stabilization; negative regulation of ubiquitin-protein ligase activity; ventricular septum morphogenesis; negative regulation of pathway-restricted SMAD protein phosphorylation; pathway-restricted SMAD protein phosphorylation; regulation of ventricular cardiomyocyte membrane depolarization; regulation of cardiac muscle contraction; ventricular cardiac muscle tissue morphogenesis; regulation of transforming growth factor beta receptor signaling pathway; negative regulation of transcription by competitive promoter binding; negative regulation of peptidyl-serine phosphorylation; positive regulation of cell-cell adhesion; negative regulation of peptidyl-threonine phosphorylation; negative regulation of epithelial to mesenc | 18q21.1 |
| SMAD9 | ureteric bud development; response to hypoxia; Mullerian duct regression; protein phosphorylation; transforming growth factor beta receptor signaling pathway; BMP signaling pathway; midbrain development; hindbrain development; positive regulation of cell differentiation; positive regulation of transcription, DNA-dependent; cellular response to organic cyclic compound | 13q12-q14 |
| SMAD9-AS1 | - | - |
| SMAGP | - | 12q13.13 |
| SMAP1 | regulation of ARF GTPase activity; positive regulation of erythrocyte differentiation | 6q13 |
| SMAP2 | regulation of ARF GTPase activity | 1p35.3-p34.1 |
| SMARCA1 | transcription, DNA-dependent; brain development; neuron differentiation; ATP-dependent chromatin remodeling; positive regulation of transcription, DNA-dependent; chromatin remodeling | Xq25 |
| SMARCA2 | regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; chromatin remodeling; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; aortic smooth muscle cell differentiation; negative regulation of cell growth; negative regulation of cell proliferation; nervous system development | 9p22.3 |
| SMARCA4 | regulation of transcription, DNA-dependent; negative regulation of androgen receptor signaling pathway; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of S phase of mitotic cell cycle; positive regulation by host of viral transcription; negative regulation of cell growth; nervous system development; regulation of transcription from RNA polymerase II promoter; chromatin remodeling; nucleosome disassembly; neural retina development; negative regulation of transcription from RNA polymerase II promoter | 19p13.2 |
| SMARCA5 | regulation of transcription from RNA polymerase II promoter; transcription initiation, DNA-dependent; chromatin silencing at rDNA; ATP catabolic process; double-strand break repair; chromatin assembly or disassembly; nucleosome assembly; chromatin remodeling; ATP-dependent chromatin remodeling; CenH3-containing nucleosome assembly at centromere; nucleosome positioning; embryo development; positive regulation of transcription, DNA-dependent | 4q31.1-q31.2 |
| SMARCAD1 | protein homooligomerization; positive regulation of transcription, DNA-dependent; chromatin modification; nucleotide metabolic process; regulation of DNA recombination | 4q22-q23 |
| SMARCAL1 | DNA duplex unwinding; chromatin modification; regulation of transcription from RNA polymerase II promoter; DNA metabolic process; ATP catabolic process | 2q35 |
| SMARCB1 | cell differentiation; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; retroviral genome replication; interspecies interaction between organisms; positive regulation by host of viral transcription; DNA integration; nervous system development; negative regulation of cell proliferation; blastocyst hatching; nucleosome disassembly; chromatin remodeling; regulation of transcription from RNA polymerase II promoter; cell cycle | 22q11.23|22q11 |
| SMARCC1 | nucleosome disassembly; chromatin remodeling; regulation of transcription from RNA polymerase II promoter; nervous system development; insulin receptor signaling pathway; organ morphogenesis; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 3p21.31 |
| SMARCC2 | positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; nervous system development; regulation of transcription from RNA polymerase II promoter; nucleosome disassembly; chromatin remodeling | 12q13.2 |
| SMARCD1 | nucleosome disassembly; chromatin remodeling; regulation of transcription from RNA polymerase II promoter; nervous system development; chromatin-mediated maintenance of transcription | 12q13-q14 |
| SMARCD2 | chromatin remodeling; regulation of transcription from RNA polymerase II promoter; nucleosome disassembly | 17q23-q24 |
| SMARCD3 | regulation of transcription from RNA polymerase II promoter; small molecule metabolic process; cellular lipid metabolic process; regulation of protein binding; muscle cell differentiation; nervous system development; positive regulation of transcription, DNA-dependent; transcription, DNA-dependent; nucleosome disassembly; neural retina development; cardiac right ventricle formation; secondary heart field specification; heart morphogenesis; positive regulation of neuroblast proliferation; chromatin remodeling | 7q35-q36 |
| SMARCE1 | nucleosome disassembly; negative regulation of transcription, DNA-dependent; nervous system development; regulation of transcription from RNA polymerase II promoter; chromatin remodeling | 17q21.2 |
| SMARCE1P1 | - | 11q22.3 |
| SMARCE1P3 | - | 14q11.2 |
| SMARCE1P6 | - | 2p23.3 |
| SMC1A | M phase of mitotic cell cycle; RNA splicing; meiosis; mitotic metaphase/anaphase transition; mitotic sister chromatid cohesion; sister chromatid cohesion; mitotic spindle organization; DNA recombination; DNA repair; nuclear mRNA splicing, via spliceosome; mitotic cell cycle; mitotic prometaphase; response to radiation; gene expression; mitotic sister chromatid segregation; chromosome condensation; negative regulation of DNA endoreduplication; signal transduction in response to DNA damage; cell division; cell cycle checkpoint | Xp11.22-p11.21 |
| SMC1B | meiosis; chromosome condensation; sister chromatid cohesion; cell cycle; DNA recombination; DNA repair | 22q13.31 |
| SMC2 | sister chromatid cohesion; mitosis; mitotic chromosome condensation; cell division; cell cycle; DNA recombination; DNA repair | 9q31.1 |
| SMC3 | DNA mediated transformation; signal transduction; meiosis; mitotic metaphase/anaphase transition; DNA repair; negative regulation of DNA endoreduplication; mitosis; cell division; sister chromatid cohesion; mitotic spindle organization; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; regulation of DNA replication | 10q25 |
| SMC4 | mitotic sister chromatid segregation; mitotic chromosome condensation; DNA repair; cell division; sister chromatid cohesion; cell cycle; DNA recombination | 3q26.1 |
| SMC5 | cellular senescence; positive regulation of mitotic metaphase/anaphase transition; positive regulation of maintenance of mitotic sister chromatid cohesion; double-strand break repair via nonhomologous end joining; telomere maintenance via recombination; double-strand break repair via homologous recombination; DNA repair; DNA recombination | 9q21.12 |
| SMC5-AS1 | - | - |
| SMC6 | DNA repair; cellular senescence; telomere maintenance via recombination; DNA recombination | 2p24.2 |
| SMCHD1 | inactivation of X chromosome by DNA methylation; chromosome organization | 18p11.32 |
| SMCO2 | - | 12p11.23 |
| SMCO3 | - | 12p12.3 |
| SMCO4 | - | 11q21 |
| SMCR3 | - | - |
| SMCR5 | - | - |
| SMCR8 | - | 17p11.2 |
| SMDT1 | - | 22q13.2 |
| SMG1 | peptidyl-serine phosphorylation; phosphatidylinositol phosphorylation; protein autophosphorylation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; DNA repair; mRNA export from nucleus; response to stress; mRNA metabolic process; gene expression; RNA metabolic process | 16p12.3 |
| SMG1P1 | - | 16p12.2 |
| SMG1P3 | - | 16p12.2 |
| SMG1P5 | - | 16p11.2 |
| SMG1P7 | - | 16q22.1 |
| SMG5 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; RNA metabolic process; mRNA metabolic process; mRNA export from nucleus; regulation of dephosphorylation; gene expression | 1q21.2 |
| SMG6 | RNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; telomere maintenance; mRNA export from nucleus; regulation of dephosphorylation; mRNA metabolic process; gene expression | 17p13.3 |
| SMG7 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; mRNA export from nucleus; gene expression; RNA metabolic process; mRNA metabolic process; regulation of dephosphorylation | 1q25 |
| SMG7-AS1 | - | 1q25.3 |
| SMG8 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; gene expression; RNA metabolic process; mRNA metabolic process; regulation of protein kinase activity | 17q22 |
| SMG9 | mRNA metabolic process; RNA metabolic process; gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 19q13.31 |
| SMIM1 | - | 1p36.32 |
| SMIM10 | - | Xq26.3 |
| SMIM10L1 | - | 12p13.2 |
| SMIM10L2A | - | Xq26.3 |
| SMIM10L2B | - | Xq26.3 |
| SMIM11A | - | 21q22.12 |
| SMIM12 | - | 1p34.3 |
| SMIM13 | - | 6p24.2 |
| SMIM14 | - | 4p14 |
| SMIM15 | - | 5q12.1 |
| SMIM17 | - | 19q13.43 |
| SMIM19 | - | 8p11.21 |
| SMIM2-AS1 | - | - |
| SMIM20 | - | 4p15.2 |
| SMIM22 | - | 16p13.3 |
| SMIM24 | - | 19p13.3 |
| SMIM3 | - | 5q33.1 |
| SMIM4 | - | 3p21.1 |
| SMIM5 | - | 17q25.1 |
| SMIM6 | - | - |
| SMIM7 | - | 19p13.11 |
| SMIM8 | - | 6q15 |
| SMKR1 | - | 7q32.1 |
| SMN1 | - | 5q13.2 |
| SMNDC1 | induction of apoptosis; RNA splicing; RNA splicing, via transesterification reactions; mRNA processing; apoptotic process | 10q23 |
| SMNP | - | 9p21.3 |
| SMO | cerebellar cortex morphogenesis; embryonic digestive tract morphogenesis; dorsal/ventral neural tube patterning; smoothened signaling pathway involved in ventral spinal cord patterning; smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation; central nervous system neuron differentiation; adenohypophysis development; negative regulation of epithelial cell differentiation; exocrine pancreas development; hair follicle morphogenesis; embryonic camera-type eye development; neuron projection regeneration; otolith morphogenesis; osteoblast proliferation; protein localization to nucleus; multicellular organism growth; positive regulation of protein import into nucleus; odontogenesis of dentin-containing tooth; muscle cell fate commitment; neuron fate commitment; embryonic neurocranium morphogenesis; negative regulation of apoptotic process; negative regulation of DNA binding; positive regulation of smoothened signaling pathway; positive regulation of transcription | 7q32.3 |
| SMOC1 | multicellular organismal development; eye development; signal transduction; cell differentiation; regulation of osteoblast differentiation; limb development | 14q24.2 |
| SMOC2 | signal transduction | 6q27 |
| SMOX | cellular nitrogen compound metabolic process; xenobiotic metabolic process; spermine catabolic process; small molecule metabolic process; polyamine biosynthetic process; polyamine metabolic process | 20p13 |
| SMPD1 | ceramide biosynthetic process; sphingolipid metabolic process; sphingomyelin metabolic process; sphingomyelin catabolic process; glycosphingolipid metabolic process; signal transduction; nervous system development; cell death; termination of signal transduction; positive regulation of protein dephosphorylation; response to cocaine; response to drug; positive regulation of apoptotic process; negative regulation of MAP kinase activity; small molecule metabolic process | 11p15.4-p15.1 |
| SMPD2 | sphingomyelin metabolic process; sphingolipid metabolic process; glycosphingolipid metabolic process; intracellular protein kinase cascade; induction of apoptosis by extracellular signals; response to mechanical stimulus; small molecule metabolic process; ceramide biosynthetic process; nerve growth factor receptor signaling pathway | 6q21 |
| SMPD3 | glycosphingolipid metabolic process; sphingolipid metabolic process; sphingomyelin catabolic process; cell cycle; multicellular organismal development; peptide hormone secretion; small molecule metabolic process | 16q22.1 |
| SMPD4 | sphingolipid metabolic process; sphingomyelin catabolic process; glycosphingolipid metabolic process; small molecule metabolic process; glycerophospholipid catabolic process; ceramide biosynthetic process; cellular response to tumor necrosis factor | 2q21.1 |
| SMPD4P1 | - | 22q11.21 |
| SMPD4P2 | - | 13q12.11 |
| SMPD5 | - | 8q24.3 |
| SMPDL3A | metabolic process; sphingomyelin catabolic process | 6q22.31 |
| SMPDL3B | sphingomyelin catabolic process; metabolic process | 1p35.3 |
| SMPX | striated muscle contraction | Xp22.1 |
| SMR3A | - | 4q13.3 |
| SMS | methionine metabolic process; polyamine metabolic process; spermine biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process | Xp22.1 |
| SMTN | smooth muscle contraction; muscle organ development | 22q12.2 |
| SMTNL1 | negative regulation of vasodilation; positive regulation of vasoconstriction | 11q12.1 |
| SMTNL2 | - | 17p13.2 |
| SMU1 | - | 9p12 |
| SMUG1 | DNA repair; base-excision repair; base-excision repair, AP site formation; depyrimidination; metabolic process | 12q13.11-q13.3 |
| SMURF1 | positive regulation of protein ubiquitination; ubiquitin-dependent SMAD protein catabolic process; receptor catabolic process; protein localization at cell surface; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; protein polyubiquitination; ectoderm development; transforming growth factor beta receptor signaling pathway; protein export from nucleus; cell differentiation; protein modification process; negative regulation of ossification; BMP signaling pathway; negative regulation of BMP signaling pathway; negative regulation of transforming growth factor beta receptor signaling pathway | 7q22.1 |
| SMURF2 | protein modification process; ubiquitin-dependent protein catabolic process; transforming growth factor beta receptor signaling pathway; protein ubiquitination; regulation of transforming growth factor beta receptor signaling pathway; ubiquitin-dependent SMAD protein catabolic process; BMP signaling pathway; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; negative regulation of transcription, DNA-dependent | 17q22-q23 |
| SMYD1 | negative regulation of transcription, DNA-dependent; heart development; chromatin remodeling | 2p11.2 |
| SMYD2 | peptidyl-lysine dimethylation; regulation of DNA damage response, signal transduction by p53 class mediator; peptidyl-lysine monomethylation; chromatin modification; histone H3-K36 methylation; negative regulation of cell proliferation; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 1q32.3 |
| SMYD3 | chromatin modification; histone lysine methylation | 1q44 |
| SMYD4 | - | 17p13.3 |
| SMYD5 | - | 2p13.2 |
| SNAI1 | positive regulation of cell migration; regulation of tight junction assembly; left/right pattern formation; negative regulation of cell differentiation involved in embryonic placenta development; trophoblast giant cell differentiation; cartilage morphogenesis; palate development; positive regulation of transcription, DNA-dependent; negative regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of apoptotic process; hair follicle morphogenesis; negative regulation of transcription from RNA polymerase II promoter; negative regulation of vitamin D biosynthetic process; positive regulation of epithelial to mesenchymal transition; mesoderm development; multicellular organismal development; epithelial to mesenchymal transition; mesoderm formation; osteoblast differentiation | 20q13.2 |
| SNAI1P1 | - | 2q33-q37 |
| SNAI2 | negative regulation of keratinocyte proliferation; response to radiation; desmosome disassembly; epithelium development; canonical Wnt receptor signaling pathway; palate development; white fat cell differentiation; positive regulation of survival gene product expression; regulation of osteoblast differentiation; positive regulation of fat cell differentiation; negative regulation of DNA damage response, signal transduction by p53 class mediator; pigmentation; negative regulation of apoptotic process; osteoblast differentiation; negative regulation of catenin import into nucleus; positive regulation of histone acetylation; negative regulation of cell adhesion mediated by integrin; regulation of chemokine production; negative regulation of chondrocyte differentiation; positive regulation of cell migration; neural crest cell development; negative regulation of vitamin D biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; negative regulation of canonical Wnt receptor signal | 8q11 |
| SNAI3 | - | 16q24.3 |
| SNAI3-AS1 | - | 16q24.3 |
| SNAP23 | vesicle targeting; cellular membrane organization; protein transport; cellular membrane fusion; post-Golgi vesicle-mediated transport; exocytosis | 15q14 |
| SNAP23P | - | 20q13.13 |
| SNAP25 | glutamate secretion; sleep; growth hormone secretion; endosome transport; synaptic transmission; synaptic vesicle docking involved in exocytosis; regulation of synapse assembly; regulation of insulin secretion; calcium ion-dependent exocytosis of neurotransmitter; positive regulation of hormone secretion; small molecule metabolic process; positive regulation of insulin secretion; axonogenesis; neurotransmitter secretion; energy reserve metabolic process; neurotransmitter uptake; long-term memory | 20p12-p11.2 |
| SNAP25-AS1 | - | 20p12.2 |
| SNAP29 | exocytosis; vesicle targeting; cellular membrane fusion; protein transport | 22q11.21 |
| SNAP47 | - | 1q42.13 |
| SNAP91 | clathrin coat assembly | 6q14.2 |
| SNAPC1 | gene expression; transcription from RNA polymerase III promoter; regulation of transcription, DNA-dependent | 14q22 |
| SNAPC2 | transcription from RNA polymerase III promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; snRNA transcription; gene expression | 19p13 |
| SNAPC3 | regulation of transcription, DNA-dependent; transcription from RNA polymerase III promoter; snRNA transcription; gene expression; transcription from RNA polymerase II promoter | 9p22.3 |
| SNAPC4 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription from RNA polymerase III promoter; snRNA transcription; gene expression; snRNA transcription from RNA polymerase II promoter; snRNA transcription from RNA polymerase III promoter | 9q34.3 |
| SNAPC5 | transcription initiation from RNA polymerase III promoter; gene expression; regulation of transcription, DNA-dependent; transcription from RNA polymerase III promoter; transcription from RNA polymerase II promoter | 15q22.31 |
| SNAPIN | terminal button organization; intracellular protein transport; synaptic transmission; synaptic vesicle exocytosis; neurotransmitter secretion; synaptic vesicle maturation; synaptic vesicle fusion to presynaptic membrane | 1q21.3 |
| SNAR-C2 | - | 19q13.32 |
| SNCA | response to iron(II) ion; negative regulation of histone acetylation; regulation of phospholipase activity; negative regulation of platelet-derived growth factor receptor signaling pathway; regulation of glutamate secretion; regulation of dopamine secretion; negative regulation of microtubule polymerization; receptor internalization; protein destabilization; response to magnesium ion; negative regulation of transporter activity; long-term synaptic potentiation; response to lipopolysaccharide; negative regulation of monooxygenase activity; positive regulation of peptidyl-serine phosphorylation; response to interferon-gamma; cellular response to oxidative stress; positive regulation of receptor recycling; fibril organization; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of macrophage activation; mitochondrial ATP synthesis coupled electron transport; response to drug; dopamine biosynthetic process; regulation of locomotion; microglial cell activation; adu | 4q21 |
| SNCAIP | regulation of inclusion body assembly; regulation of neurotransmitter secretion; dopamine metabolic process; cell death | 5q23.2 |
| SNCB | negative regulation of neuron apoptosis; dopamine metabolic process | 5q35 |
| SNCG | regulation of dopamine secretion; regulation of neurotransmitter secretion; adult locomotory behavior | 10q23.2-q23.3 |
| SND1 | regulation of transcription, DNA-dependent; interspecies interaction between organisms; gene silencing by RNA | 7q31.3 |
| SND1-IT1 | - | 7q31 |
| SNED1 | cell-matrix adhesion | 2q37.3 |
| SNF8 | endosome transport; cellular membrane organization; protein transport; regulation of transcription from RNA polymerase II promoter | 17q21.32 |
| SNHG1 | - | 11q12.3 |
| SNHG10 | - | 14q32.13 |
| SNHG15 | - | 7p13 |
| SNHG17 | - | 20q11.23 |
| SNHG18 | - | - |
| SNHG20 | - | 17q25.2 |
| SNHG22 | - | 18q21.1 |
| SNHG24 | - | 14q32.31 |
| SNHG4 | - | 5q31.2 |
| SNHG6 | - | 8q13|8q13 |
| SNHG7 | - | 9q34.3 |
| SNHG8 | - | 4q26 |
| SNHG9 | - | 16p13.3 |
| SNIP1 | I-kappaB kinase/NF-kappaB cascade; production of miRNAs involved in gene silencing by miRNA; gene silencing by RNA; regulation of transcription, DNA-dependent | 1p34.3 |
| SNN | response to abiotic stimulus; response to stress | 16p13 |
| SNORA12 | - | 10q24.31 |
| SNORA13 | - | 5q22.2 |
| SNORA14A | - | 7q11.23 |
| SNORA14B | - | 1q42.3 |
| SNORA16B | - | 1q32.3 |
| SNORA19 | - | 10q26 |
| SNORA20 | - | 6q25.3 |
| SNORA21 | - | 17q12 |
| SNORA22 | - | 7q11.21 |
| SNORA23 | - | 11p15.4 |
| SNORA26 | - | 4q12 |
| SNORA28 | - | 14q32.32 |
| SNORA2A | - | 12q13.11 |
| SNORA2B | - | 12q13.11 |
| SNORA30 | - | 16p11.2 |
| SNORA31 | - | 13q14.13 |
| SNORA33 | - | 6q23.2 |
| SNORA37 | - | 18q21.2 |
| SNORA38 | - | 6p21.33 |
| SNORA38B | - | 17q24.2 |
| SNORA46 | - | 16q21 |
| SNORA49 | - | 12q24.33 |
| SNORA50C | - | 17q23.3 |
| SNORA55 | - | 1p34.3 |
| SNORA56 | - | Xq28 |
| SNORA58 | - | 3q21.2 |
| SNORA59A | - | 1p36.21 |
| SNORA5B | - | 7p13 |
| SNORA60 | - | 20q11.23 |
| SNORA65 | - | 9q34 |
| SNORA66 | - | 1p22.1 |
| SNORA70 | - | Xq28 |
| SNORA70B | - | 2p15 |
| SNORA70C | - | 9q33.1 |
| SNORA70D | - | 16q22.3 |
| SNORA70E | - | - |
| SNORA70F | - | - |
| SNORA70G | - | 12q14 |
| SNORA71A | - | 20q11.23 |
| SNORA71C | - | 20q11.23 |
| SNORA71D | - | 20q11.23 |
| SNORA71E | - | 20q11.23 |
| SNORA74A | - | 5q31.2 |
| SNORA75 | - | 2q37.1 |
| SNORA77 | - | 1q32.1 |
| SNORA80A | - | 21q22.11 |
| SNORA80E | - | 1q22 |
| SNORA9 | - | 7p13 |
| SNORD105 | - | 19p13.2 |
| SNORD11 | - | 2q33.1 |
| SNORD114-15 | - | 14q32 |
| SNORD114-2 | - | 14q32 |
| SNORD114-25 | - | 14q32 |
| SNORD114-3 | - | 14q32 |
| SNORD114-6 | - | 14q32 |
| SNORD115-23 | - | 15q11.2 |
| SNORD115-24 | - | 15q11.2 |
| SNORD115-32 | - | 15q11.2 |
| SNORD116-10 | - | 15q11.2 |
| SNORD116-11 | - | 15q11.2 |
| SNORD116-16 | - | 15q11.2 |
| SNORD116-23 | - | 15q11.2 |
| SNORD116-25 | - | 15q11.2 |
| SNORD116-26 | - | 15q11.2 |
| SNORD116-27 | - | 15q11.2 |
| SNORD116-29 | - | 15q11.2 |
| SNORD117 | - | 6p21.33 |
| SNORD123 | - | 5p15.2 |
| SNORD12C | - | 20q13.13 |
| SNORD13 | - | 8p12 |
| SNORD13P1 | - | 22q13.2 |
| SNORD14A | - | 11p15 |
| SNORD14E | - | 11q23.3-q25 |
| SNORD15B | - | 11q13.4 |
| SNORD18A | - | 15q22 |
| SNORD1A | - | 17q25.1 |
| SNORD1B | - | 17q25.1 |
| SNORD20 | - | 2q37.1 |
| SNORD32B | - | 6p22.1 |
| SNORD38A | - | 1p34.1 |
| SNORD3A | - | 17p11.2 |
| SNORD3C | - | 17p11.2 |
| SNORD3D | - | 17p11.2 |
| SNORD41 | - | 19p13.2 |
| SNORD46 | - | 1p34.1 |
| SNORD4A | - | 17q11 |
| SNORD50B | - | 6q14.3 |
| SNORD51 | - | 2q33 |
| SNORD53 | - | 2p23.2 |
| SNORD56B | - | 14q24.2 |
| SNORD59A | - | 12p13.3 |
| SNORD60 | - | 16p13.3 |
| SNORD65 | - | 17p11.2 |
| SNORD72 | - | 5p13 |
| SNORD75 | - | 1q25.1 |
| SNORD78 | - | 1q25.1 |
| SNORD8 | - | 14q11.2 |
| SNORD82 | - | 2q37.1 |
| SNORD83A | - | 22q13 |
| SNORD89 | - | 2q11.2 |
| SNORD93 | - | 7p15.3 |
| SNORD94 | - | 2p11.2 |
| SNORD96B | - | Xq23 |
| SNPH | synaptic vesicle docking involved in exocytosis; neurotransmitter secretion | 20p13 |
| SNRK | myeloid cell differentiation; protein phosphorylation | 3p22.1 |
| SNRK-AS1 | - | - |
| SNRNP200 | cis assembly of pre-catalytic spliceosome; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression | 2q11.2 |
| SNRNP25 | RNA splicing; mRNA processing | 16p13.3 |
| SNRNP27 | mRNA processing; RNA splicing | 2p13.3 |
| SNRNP35 | mRNA processing; RNA splicing | 12q24.31 |
| SNRNP40 | RNA splicing, via transesterification reactions; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; RNA processing | 1p35.2 |
| SNRNP48 | RNA splicing; mRNA processing | 6p24.3 |
| SNRNP70 | regulation of RNA splicing; nuclear mRNA splicing, via spliceosome; mRNA processing; RNA splicing; gene expression | 19q13.3 |
| SNRPA | gene expression; RNA splicing; nuclear mRNA splicing, via spliceosome | 19q13.1 |
| SNRPA1 | nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression | 15q26.3 |
| SNRPB | ncRNA metabolic process; RNA metabolic process; spliceosomal snRNP assembly; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; histone mRNA metabolic process; RNA splicing; gene expression | 20p13 |
| SNRPB2 | mRNA processing; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression | 20p12.1 |
| SNRPBP1 | - | 7q21.11 |
| SNRPC | spliceosomal snRNP assembly; nuclear mRNA splicing, via spliceosome | 6p21.31 |
| SNRPD1 | spliceosomal snRNP assembly; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; spliceosome assembly; RNA metabolic process; ncRNA metabolic process | 18q11.2 |
| SNRPD2 | ncRNA metabolic process; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; RNA metabolic process; spliceosomal snRNP assembly; spliceosome assembly | 19q13.2 |
| SNRPD3 | histone mRNA metabolic process; ncRNA metabolic process; RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome; RNA metabolic process; gene expression; transcription from RNA polymerase II promoter; spliceosomal snRNP assembly; termination of RNA polymerase II transcription | 22q11.23 |
| SNRPE | RNA metabolic process; ncRNA metabolic process; gene expression; RNA splicing; histone mRNA metabolic process; mRNA processing; termination of RNA polymerase II transcription; nuclear mRNA splicing, via spliceosome; spliceosomal snRNP assembly; spliceosome assembly; transcription from RNA polymerase II promoter | 1q32 |
| SNRPEP4 | - | 19p13.3 |
| SNRPEP6 | - | - |
| SNRPEP7 | - | - |
| SNRPF | termination of RNA polymerase II transcription; ncRNA metabolic process; RNA metabolic process; gene expression; RNA splicing; histone mRNA metabolic process; mRNA processing; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; spliceosomal snRNP assembly | 12q23.1 |
| SNRPFP1 | - | 20q13.13 |
| SNRPFP3 | - | - |
| SNRPG | ncRNA metabolic process; transcription from RNA polymerase II promoter; RNA metabolic process; gene expression; RNA splicing; histone mRNA metabolic process; mRNA processing; termination of RNA polymerase II transcription; nuclear mRNA splicing, via spliceosome; spliceosomal snRNP assembly; spliceosome assembly | 2p13.3 |
| SNRPGP10 | - | 1q32.1 |
| SNRPGP11 | - | - |
| SNRPGP14 | - | - |
| SNRPGP3 | - | - |
| SNRPGP4 | - | 17q24.3 |
| SNRPGP5 | - | - |
| SNRPGP8 | - | - |
| SNRPGP9 | - | 2q13 |
| SNRPN | RNA splicing | 15q11.2 |
| SNTA1 | neuromuscular junction development; muscle contraction | 20q11.2 |
| SNTB1 | muscle contraction | 8q23-q24 |
| SNTB2 | - | 16q22.1 |
| SNTG1 | cell communication | 8q11-q12 |
| SNTG2 | central nervous system development | 2p25.3 |
| SNTN | - | 3p14.2 |
| SNU13 | ribosome biogenesis; gene expression; RNA splicing; single fertilization; nuclear mRNA splicing, via spliceosome | 22q13 |
| SNUPN | snRNA import into nucleus; ncRNA metabolic process; RNA metabolic process; gene expression; transport; protein import into nucleus; spliceosomal snRNP assembly | 15q24.2 |
| SNURF | - | 15q12 |
| SNW1 | gene expression; negative regulation of transcription, DNA-dependent; nuclear mRNA splicing, via spliceosome; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; cellular response to retinoic acid; Notch signaling pathway; retinoic acid receptor signaling pathway; positive regulation of neurogenesis; RNA splicing | 14q24.3 |
| SNX1 | cell communication; early endosome to Golgi transport; endocytosis; intracellular protein transport | 15q22.31 |
| SNX10 | endosome organization; cell communication; protein transport | 7p15.2 |
| SNX11 | protein transport; cell communication | 17q21.32 |
| SNX12 | protein transport; cell communication | Xq13.1 |
| SNX13 | intracellular protein transport; cell communication; negative regulation of signal transduction; termination of G-protein coupled receptor signaling pathway; positive regulation of GTPase activity | 7p21.1 |
| SNX14 | protein transport; termination of G-protein coupled receptor signaling pathway; cell communication | 6q14.3 |
| SNX15 | cell communication; intracellular protein transport | 11q12 |
| SNX16 | early endosome to late endosome transport; protein transport; protein targeting to lysosome; cell communication; endosome to lysosome transport | 8q21.13 |
| SNX17 | receptor-mediated endocytosis; intracellular protein transport; signal transduction; endosome transport; cholesterol catabolic process; regulation of endocytosis | 2p23-p22 |
| SNX18 | endocytosis; cell communication; positive regulation of GTPase activity; protein transport | 5q11.2 |
| SNX18P2 | - | 9q22.31 |
| SNX18P24 | - | - |
| SNX18P26 | - | - |
| SNX18P3 | - | - |
| SNX18P7 | - | - |
| SNX19 | protein transport; cell communication | 11q25 |
| SNX19P2 | - | 13q11 |
| SNX19P3 | - | 18p11.21 |
| SNX2 | intracellular protein transport; endocytosis; cell communication | 5q23 |
| SNX20 | protein transport; cell communication | 16q12.1 |
| SNX21 | cell communication; protein transport | 20q13.12 |
| SNX22 | cell communication; protein transport | 15q22.31 |
| SNX24 | protein transport; cell communication | 5q23.2 |
| SNX25 | termination of G-protein coupled receptor signaling pathway; cell communication; protein transport | 4q35.1 |
| SNX27 | signal transduction; protein transport | 1q21.3 |
| SNX29 | cell communication | 16p13.13-p13.12 |
| SNX29P1 | - | 16p12.2 |
| SNX29P2 | - | 16p11.2 |
| SNX2P2 | - | - |
| SNX3 | protein transport; cell communication; endocytosis | 6q21 |
| SNX30 | cell communication; protein transport | 9q32 |
| SNX31 | cell communication; protein transport | 8q22.3 |
| SNX32 | protein transport; cell communication | 11q13.1 |
| SNX33 | cell communication | 15q24.2 |
| SNX4 | endocytic recycling; endocytosis; cell communication; protein transport | 3q21.2 |
| SNX5 | protein transport; cell communication; pinocytosis | 20p11 |
| SNX5P1 | - | 4q21.1 |
| SNX6 | negative regulation of epidermal growth factor-activated receptor activity; intracellular protein transport; negative regulation of transcription, DNA-dependent; cell communication; negative regulation of transforming growth factor beta receptor signaling pathway; retrograde transport, endosome to Golgi | 14q13.1 |
| SNX6P1 | - | 19p12 |
| SNX7 | cell communication; protein transport | 1p21.3 |
| SNX9 | positive regulation of GTPase activity; positive regulation of protein oligomerization; cell communication; receptor-mediated endocytosis; intracellular protein transport; lipid tube assembly | 6q25.1-q26 |
| SOAT1 | positive regulation of amyloid precursor protein biosynthetic process; cholesterol homeostasis; cholesterol esterification; very-low-density lipoprotein particle assembly; steroid metabolic process; cholesterol metabolic process; macrophage derived foam cell differentiation; cholesterol storage; cholesterol efflux | 1q25 |
| SOAT2 | intestinal cholesterol absorption; cholesterol metabolic process; steroid metabolic process; macrophage derived foam cell differentiation; cholesterol homeostasis; very-low-density lipoprotein particle assembly; cholesterol efflux; cholesterol esterification | 12q13.13 |
| SOBP | locomotory behavior; sensory perception of sound; inner ear morphogenesis | 6q21 |
| SOCS1 | regulation of interferon-gamma-mediated signaling pathway; fat cell differentiation; negative regulation of JAK-STAT cascade; negative regulation of insulin receptor signaling pathway; interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway; cellular response to amino acid stimulus; negative regulation of tyrosine phosphorylation of Stat3 protein; negative regulation of catalytic activity; response to peptide hormone stimulus; JAK-STAT cascade involved in growth hormone signaling pathway; regulation of type I interferon-mediated signaling pathway; regulation of protein phosphorylation; JAK-STAT cascade; cytokine-mediated signaling pathway; organ regeneration; response to drug; regulation of growth; intracellular signal transduction; response to cytokine stimulus; response to progesterone stimulus; response to lipopolysaccharide; response to estradiol stimulus | 16p13.13 |
| SOCS2 | JAK-STAT cascade involved in growth hormone signaling pathway; regulation of cell growth; JAK-STAT cascade; aging; regulation of signal transduction; anti-apoptosis; negative regulation of signal transduction; response to estradiol stimulus; cellular response to hormone stimulus; intracellular signal transduction; response to peptide hormone stimulus; regulation of JAK-STAT cascade; growth hormone receptor signaling pathway | 12q |
| SOCS2-AS1 | - | 12q22 |
| SOCS2P1 | - | 20q11.21 |
| SOCS2P2 | - | 22q11.2 |
| SOCS3 | branching involved in embryonic placenta morphogenesis; placenta blood vessel development; anti-apoptosis; JAK-STAT cascade; aging; trophoblast giant cell differentiation; spongiotrophoblast differentiation; regulation of protein phosphorylation; response to hypoxia; response to insulin stimulus; response to cytokine stimulus; regulation of interferon-gamma-mediated signaling pathway; response to progesterone stimulus; response to lipopolysaccharide; response to estradiol stimulus; response to food; regulation of growth; response to drug; positive regulation of cell differentiation; negative regulation of insulin receptor signaling pathway; response to glucocorticoid stimulus; interferon-gamma-mediated signaling pathway; response to heat; type I interferon-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; organ regeneration; cytokine-mediated signaling pathway; response to organic cyclic compound; response to bacterium; response to gamma radiation; JAK-STAT cascade involv | 17q25.3 |
| SOCS4 | negative regulation of epidermal growth factor-activated receptor activity; regulation of growth; intracellular signal transduction; negative regulation of signal transduction | 14q22.1 |
| SOCS5 | negative regulation of signal transduction; regulation of growth; positive regulation of T-helper 1 cell differentiation; negative regulation of T-helper 2 cell differentiation; epidermal growth factor receptor signaling pathway; negative regulation of epidermal growth factor-activated receptor activity; cell growth; cytokine-mediated signaling pathway; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; intracellular signal transduction | 2p21 |
| SOCS5P2 | - | 9q34.3 |
| SOCS5P3 | - | 3p21.31 |
| SOCS5P4 | - | Xq13.1 |
| SOCS5P5 | - | 6q21 |
| SOCS6 | JAK-STAT cascade; negative regulation of signal transduction; regulation of growth; defense response; intracellular signal transduction | 18q22.2 |
| SOCS7 | intracellular signal transduction; protein ubiquitination; regulation of growth; fat cell differentiation; insulin receptor signaling pathway; negative regulation of signal transduction | 17q12 |
| SOD1 | ovarian follicle development; myeloid cell homeostasis; placenta development; platelet degranulation; positive regulation of cytokine production; retina homeostasis; response to amphetamine; response to superoxide; activation of MAPK activity; double-strand break repair; anti-apoptosis; cellular iron ion homeostasis; superoxide metabolic process; glutathione metabolic process; DNA fragmentation involved in apoptotic nuclear change; muscle cell homeostasis; superoxide anion generation; positive regulation of apoptotic process; positive regulation of catalytic activity; negative regulation of neuron apoptosis; response to ethanol; negative regulation of cholesterol biosynthetic process; regulation of protein kinase activity; regulation of organ growth; response to copper ion; embryo implantation; thymus development; response to axon injury; hydrogen peroxide biosynthetic process; regulation of mitochondrial membrane potential; heart contraction; neurofilament cytoskeleton organization; relaxation of vascular sm | 21q22.11 |
| SOD2 | negative regulation of fat cell differentiation; positive regulation of nitric oxide biosynthetic process; negative regulation of neuron apoptosis; negative regulation of apoptotic process; superoxide anion generation; response to hydrogen peroxide; response to drug; response to silicon dioxide; response to L-ascorbic acid; response to lipopolysaccharide; oxygen homeostasis; response to nutrient levels; response to cadmium ion; negative regulation of fibroblast proliferation; neuron development; response to axon injury; erythrophore differentiation; hydrogen peroxide biosynthetic process; regulation of catalytic activity; protein homotetramerization; response to electrical stimulus; regulation of mitochondrial membrane potential; iron ion homeostasis; response to hyperoxia; cellular response to ethanol; respiratory electron transport chain; hemopoiesis; response to superoxide; age-dependent response to reactive oxygen species; response to hypoxia; release of cytochrome c from mitochondria; liver development; | 6q25.3 |
| SOD3 | response to hypoxia; removal of superoxide radicals; response to copper ion | 4p15.2 |
| SOGA1 | - | 20q11.23 |
| SOGA2P1 | - | 13q21.33 |
| SOHLH1 | regulation of transcription, DNA-dependent; multicellular organismal development; spermatogenesis; cell differentiation; oogenesis | 9q34.3 |
| SOHLH2 | oogenesis; cell differentiation; spermatogenesis; multicellular organismal development; regulation of transcription, DNA-dependent | 13q13.3 |
| SON | spindle pole body separation; regulation of cell cycle; regulation of RNA splicing; anti-apoptosis; mRNA processing; cytokinesis; microtubule cytoskeleton organization | 21q22.11 |
| SONP1 | - | 1q23.1 |
| SORBS1 | stress fiber assembly; positive regulation of establishment of protein localization in plasma membrane; focal adhesion assembly; positive regulation of lipid biosynthetic process; positive regulation of glucose import; positive regulation of glycogen biosynthetic process; cellular response to insulin stimulus; glucose transport; insulin receptor signaling pathway; cell-matrix adhesion; muscle contraction; transport | 10q23.33 |
| SORBS2 | - | 4q35.1 |
| SORBS3 | positive regulation of cytoskeleton organization; negative regulation of transcription from RNA polymerase II promoter; positive regulation of stress fiber assembly; positive regulation of MAPK cascade; cell-substrate adhesion; muscle contraction; cell adhesion | 8p21.3 |
| SORCS1 | neuropeptide signaling pathway | 10q23-q25 |
| SORCS2 | neuropeptide signaling pathway | 4p16.1 |
| SORCS3 | neuropeptide signaling pathway | 10q23-q25 |
| SORD | glucose metabolic process; sorbitol catabolic process; sperm motility; fructose biosynthetic process; L-xylitol catabolic process; L-xylitol metabolic process | 15q15.3 |
| SORL1 | transport; cholesterol metabolic process; steroid metabolic process; lipid transport; receptor-mediated endocytosis | 11q23.2-q24.2 |
| SORT1 | regulation of gene expression; negative regulation of apoptotic process; glucose import; nerve growth factor receptor signaling pathway; plasma membrane to endosome transport; negative regulation of lipoprotein lipase activity; response to insulin stimulus; endosome transport via multivesicular body sorting pathway; cell differentiation; vesicle organization; myotube differentiation; induction of apoptosis by extracellular signals; endosome to lysosome transport; multicellular organismal development; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; endocytosis; Golgi to endosome transport; transport; ossification | 1p13.3|1p21.3-p13.1 |
| SOS1 | induction of apoptosis by extracellular signals; regulation of small GTPase mediated signal transduction; leukocyte migration; regulation of catalytic activity; nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; positive regulation of Rho GTPase activity; platelet activation; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; blood coagulation; axon guidance; Ras protein signal transduction; small GTPase mediated signal transduction; epidermal growth factor receptor signaling pathway; signal transduction; apoptotic process | 2p21 |
| SOS1-IT1 | - | 2p21 |
| SOS2 | small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; regulation of catalytic activity; nerve growth factor receptor signaling pathway; induction of apoptosis by extracellular signals; axon guidance; apoptotic process; regulation of Rho protein signal transduction | 14q21 |
| SOST | negative regulation of BMP signaling pathway; negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification; negative regulation of canonical Wnt receptor signaling pathway; cellular response to parathyroid hormone stimulus; positive regulation of transcription, DNA-dependent; negative regulation of protein complex assembly; negative regulation of ossification; response to mechanical stimulus | 17q11.2 |
| SOSTDC1 | negative regulation of BMP signaling pathway; odontogenesis of dentin-containing tooth; Wnt receptor signaling pathway; pattern specification process | 7p21.1 |
| SOWAHA | - | 5q31.1 |
| SOWAHB | - | 4q21.1 |
| SOWAHC | - | 2q13 |
| SOWAHD | - | Xq24 |
| SOX1 | chromatin organization; regulation of transcription, DNA-dependent | 13q34 |
| SOX10 | cell maturation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process; melanocyte differentiation; positive regulation of gliogenesis; anatomical structure morphogenesis; peripheral nervous system development; regulation of transcription from RNA polymerase II promoter; positive regulation of neuroblast proliferation; neural crest cell migration; in utero embryonic development; digestive tract morphogenesis; developmental growth; oligodendrocyte differentiation; stem cell differentiation; negative regulation of canonical Wnt receptor signaling pathway; enteric nervous system development | 22q13.1 |
| SOX11 | limb bud formation; positive regulation of ossification; soft palate development; hard palate development; positive regulation of neurogenesis; negative regulation of lymphocyte proliferation; embryonic skeletal system morphogenesis; embryonic digestive tract morphogenesis; sympathetic nervous system development; positive regulation of hormone secretion; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of stem cell proliferation; negative regulation of glial cell proliferation; ventricular septum morphogenesis; lung morphogenesis; negative regulation of cell death; neuroepithelial cell differentiation; eyelid development in camera-type eye; somite development; cornea development in camera-type eye; closure of optic fissure; signal transduction involved in G1/S transition checkpoint; negative regulation of transcription regulatory region DNA binding; positive regulation of lens epithelial cell proliferation; positive | 2p25 |
| SOX12 | positive regulation of transcription from RNA polymerase II promoter; cell fate commitment; spinal cord development; regulation of transcription from RNA polymerase II promoter | 20p13 |
| SOX13 | anatomical structure morphogenesis; regulation of transcription, DNA-dependent | 1q32 |
| SOX14 | negative regulation of transcription, DNA-dependent; nervous system development; negative regulation of transcription from RNA polymerase II promoter | 3q22-q23 |
| SOX15 | cell differentiation; male gonad development; negative regulation of transcription from RNA polymerase II promoter; chromatin organization; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; myoblast development; positive regulation of transcription from RNA polymerase II promoter; negative regulation of striated muscle tissue development; skeletal muscle tissue regeneration | 17p12.3 |
| SOX17 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of canonical Wnt receptor signaling pathway; endodermal digestive tract morphogenesis; common bile duct development; regulation of stem cell division; regulation of cardiac cell fate specification; regulation of stem cell proliferation; positive regulation of skeletal muscle tissue development; stem cell differentiation; protein stabilization; renal system development; endocardial cell differentiation; heart formation; cardiac cell fate determination; gall bladder development; regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification; stem cell fate specification; endocardium formation; rostrocaudal neural tube patterning; negative regulation of mesodermal cell fate specification; positive regulation of cell differentiation; cell migration involved in gastrulation; embryonic heart tube development; positive regulation of protein catabolic process; positive regul | 8q11.23 |
| SOX18 | vasculogenesis; angiogenesis; regulation of stem cell proliferation; hair cycle process; endocardium formation; stem cell fate specification; cell maturation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; blood vessel endothelial cell migration; embryonic heart tube development; endocardial cell differentiation; outflow tract morphogenesis; heart looping; lymphangiogenesis; vasculature development; hair follicle development; in utero embryonic development; blood vessel development; establishment of endothelial barrier; lymphatic endothelial cell differentiation | 20q13.33 |
| SOX2 | positive regulation of transcription from RNA polymerase II promoter; osteoblast differentiation; positive regulation of transcription, DNA-dependent; negative regulation of neuron differentiation; positive regulation of MAPK cascade; regulation of cysteine-type endopeptidase activity involved in apoptotic process; somatic stem cell maintenance; forebrain development; pituitary gland development; glial cell fate commitment; regulation of gene expression; response to wounding; multicellular organismal development; cell cycle arrest; regulation of transcription, DNA-dependent; chromatin organization; endodermal cell fate specification; eye development; negative regulation of epithelial cell proliferation; response to growth factor stimulus; negative regulation of canonical Wnt receptor signaling pathway; inner ear development | 3q26.3-q27 |
| SOX2-OT | - | 3q26.33 |
| SOX21 | hair follicle development; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; hair cycle; skin development; negative regulation of neuron differentiation; stem cell differentiation | 13q31-q32 |
| SOX21-AS1 | - | 13q32.1 |
| SOX3 | face development; Sertoli cell development; spermatid differentiation; negative regulation of neuron differentiation; forebrain development; pituitary gland development; hypothalamus development; organ morphogenesis; sex determination; sensory organ development; central nervous system development; multicellular organismal development; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | Xq27.1 |
| SOX30 | transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; response to corticosteroid stimulus; regulation of transcription, DNA-dependent; spermatogenesis | 5q33 |
| SOX30P1 | - | 5q33.3 |
| SOX4 | negative regulation of cell proliferation; ascending aorta morphogenesis; somatic stem cell maintenance; positive regulation of insulin secretion; regulation of protein stability; negative regulation of protein ubiquitination; endocrine pancreas development; T cell differentiation; positive regulation of Wnt receptor signaling pathway; glial cell development; spinal cord motor neuron differentiation; spinal cord development; glial cell proliferation; glucose homeostasis; positive regulation of cell proliferation; heart development; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; regulation of transcription, DNA-dependent; noradrenergic neuron differentiation; atrial septum primum morphogenesis; cardiac right ventricle morphogenesis; cardiac ventricle formation; mitral valve morphogenesis; pro-B cell differentiation; neural tube formation; skeletal system development; DNA damage response, detection of DNA damage; positive regulation of N-terminal peptidyl-lysine a | 6p22.3 |
| SOX5 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; positive regulation of chondrocyte differentiation; positive regulation of cartilage development; cellular response to transforming growth factor beta stimulus; positive regulation of mesenchymal stem cell differentiation | 12p12.1 |
| SOX5P | - | 8q21.2 |
| SOX6 | cellular response to transforming growth factor beta stimulus; positive regulation of mesenchymal stem cell differentiation; positive regulation of chondrocyte differentiation; positive regulation of cartilage development; erythrocyte development; oligodendrocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; cell fate commitment; muscle cell differentiation; cardiac cell differentiation; hemopoiesis; gene silencing; oligodendrocyte cell fate specification; negative regulation of transcription from RNA polymerase II promoter; cell morphogenesis; in utero embryonic development; regulation of transcription, DNA-dependent; muscle organ development; post-embryonic development | 11p15.3 |
| SOX7 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; endoderm formation; regulation of canonical Wnt receptor signaling pathway; negative regulation of transcription, DNA-dependent; negative regulation of cell proliferation | 8p22 |
| SOX8 | positive regulation of transcription from RNA polymerase II promoter; cell fate commitment; positive regulation of transcription, DNA-dependent; signal transduction; neural crest cell migration; in utero embryonic development; adipose tissue development; negative regulation of transcription, DNA-dependent; retina development in camera-type eye; osteoblast differentiation; morphogenesis of a branching epithelium; negative regulation of myoblast differentiation; spermatogenesis; renal vesicle induction; ureter morphogenesis; metanephric nephron tubule formation; positive regulation of kidney development; peripheral nervous system development; male gonad development; regulation of hormone levels; positive regulation of branching involved in ureteric bud morphogenesis; positive regulation of gliogenesis; fat cell differentiation; positive regulation of osteoblast proliferation; negative regulation of apoptotic process; negative regulation of photoreceptor cell differentiation; retinal rod cell differentiation; ce | 16p13.3 |
| SOX9 | heart valve development; negative regulation of immune system process; endocardial cushion morphogenesis; heart valve morphogenesis; heart valve formation; chondrocyte differentiation involved in endochondral bone morphogenesis; positive regulation of mesenchymal cell proliferation; hair follicle development; positive regulation of protein phosphorylation; tissue homeostasis; epithelial to mesenchymal transition; cell fate specification; Sertoli cell development; regulation of apoptotic process; negative regulation of apoptotic process; protein kinase B signaling cascade; regulation of cell differentiation; negative regulation of myoblast differentiation; positive regulation of protein catabolic process; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of photoreceptor cell differentiation; oligodendrocyte differentiation; positive regulation of epithelial cell pro | 17q23 |
| SP1 | positive regulation by host of viral transcription; ossification; trophectodermal cell differentiation; liver development; embryonic placenta development; regulation of transcription, DNA-dependent; megakaryocyte differentiation; lung development; enucleate erythrocyte differentiation; interspecies interaction between organisms; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; embryonic camera-type eye morphogenesis; embryonic skeletal system development; embryonic process involved in female pregnancy; definitive hemopoiesis | 12q13.1 |
| SP100 | negative regulation of cellular component movement; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; retinoic acid receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; cytokine-mediated signaling pathway; response to retinoic acid; negative regulation of viral transcription; response to cytokine stimulus; response to type I interferon; response to interferon-gamma; negative regulation of DNA binding; negative regulation of sequence-specific DNA binding transcription factor activity; interspecies interaction between organisms; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of sequence-specific DNA binding transcription factor activity | 2q37.1 |
| SP110 | regulation of transcription, DNA-dependent; signal transduction; interspecies interaction between organisms | 2q37.1 |
| SP140L | - | 2q37.1 |
| SP2 | immune response; regulation of transcription from RNA polymerase II promoter | 17q21.32 |
| SP3 | definitive hemopoiesis; embryonic process involved in female pregnancy; embryonic camera-type eye morphogenesis; ossification; natural killer cell differentiation; trophectodermal cell differentiation; liver development; embryonic placenta development; regulation of transcription, DNA-dependent; B cell differentiation; T cell differentiation; megakaryocyte differentiation; monocyte differentiation; lung development; granulocyte differentiation; enucleate erythrocyte differentiation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; embryonic skeletal system development | 2q31 |
| SP3P | - | 13q31.3 |
| SP4 | regulation of transcription from RNA polymerase II promoter; regulation of heart contraction | 7p15.3 |
| SP5 | regulation of transcription, DNA-dependent | 2q31.1 |
| SP6 | regulation of transcription, DNA-dependent; positive regulation of cell proliferation | 17q21.32 |
| SP8 | proximal/distal pattern formation; dorsal/ventral pattern formation; regulation of transcription, DNA-dependent; embryonic limb morphogenesis | 7p21.2 |
| SP9 | regulation of transcription, DNA-dependent; embryonic limb morphogenesis | 2q31.1 |
| SPA17 | spermatogenesis; single fertilization; signal transduction; binding of sperm to zona pellucida; ciliary or flagellar motility | 11q24.2 |
| SPA17P1 | - | 10q22.2 |
| SPACA1 | - | 6q15 |
| SPACA3 | response to virus; peptidoglycan catabolic process; defense response to Gram-positive bacterium; cell wall macromolecule catabolic process; positive regulation of phagocytosis; monocyte activation; positive regulation of macrophage activation | 17q11.2 |
| SPACA4 | cell adhesion | 19q13.33 |
| SPACA5 | - | Xp11.23 |
| SPACA6 | - | 19q13.41 |
| SPACA7 | - | 13q34 |
| SPAG1 | single fertilization | 8q22.2 |
| SPAG11A | - | 8p23.1 |
| SPAG16 | cell projection organization; cilium assembly; spermatogenesis | 2q34 |
| SPAG17 | - | 1p12 |
| SPAG4 | spermatogenesis | 20q11.21 |
| SPAG5 | mitotic anaphase; regulation of attachment of spindle microtubules to kinetochore; cell division; phosphatidylinositol-mediated signaling; chromosome segregation; mitotic sister chromatid segregation; spindle organization; cell cycle | 17q11.2 |
| SPAG5-AS1 | - | - |
| SPAG6 | spermatid development; cell projection organization | 10p12.2 |
| SPAG7 | - | 17p13.2 |
| SPAG8 | - | 9p13.3 |
| SPAG9 | striated muscle cell differentiation; positive regulation of neuron differentiation; spermatogenesis; positive regulation of MAPK cascade; muscle cell differentiation; retrograde transport, endosome to Golgi; positive regulation of muscle cell differentiation; negative regulation of protein homodimerization activity; activation of JUN kinase activity; protein homooligomerization; positive regulation of cell migration | 17q21.33 |
| SPAM1 | fusion of sperm to egg plasma membrane; binding of sperm to zona pellucida; cell adhesion; carbohydrate metabolic process | 7q31.3 |
| SPANXA1 | - | Xq27.1 |
| SPANXB1 | - | Xq27.1 |
| SPANXD | - | Xq27.1 |
| SPANXN1 | - | Xq27 |
| SPANXN4 | - | Xq27.3 |
| SPANXN5 | - | Xp11.22 |
| SPARC | lung development; cellular response to growth factor stimulus; response to lipopolysaccharide; response to L-ascorbic acid; response to cytokine stimulus; regulation of cell proliferation; response to peptide hormone stimulus; response to ethanol; response to cadmium ion; inner ear development; response to glucocorticoid stimulus; platelet activation; response to lead ion; response to calcium ion; response to cAMP; ossification; platelet degranulation; signal transduction; heart development; blood coagulation; response to gravity | 5q31.3-q32 |
| SPARCL1 | signal transduction | 4q22.1 |
| SPAST | multicellular organismal development; nervous system development; cell death; cell differentiation; protein hexamerization; microtubule severing; protein homooligomerization; cell division; cell cycle; ER to Golgi vesicle-mediated transport; cytokinesis, completion of separation; microtubule bundle formation | 2p24-p21 |
| SPATA1 | - | 1p22.3 |
| SPATA12 | - | 3p14.3 |
| SPATA13 | cell migration; lamellipodium assembly; regulation of cell migration; regulation of Rho protein signal transduction; filopodium assembly | 13q12.12 |
| SPATA16 | multicellular organismal development; spermatogenesis; cell differentiation | 3q26.31 |
| SPATA17 | - | 1q41 |
| SPATA18 | mitochondrion degradation by induced vacuole formation; response to DNA damage stimulus; cellular response to stress; mitochondrial protein catabolic process | 4q12 |
| SPATA19 | multicellular organismal development; spermatogenesis; cell differentiation | 11q25 |
| SPATA2 | multicellular organismal development; spermatogenesis; cell differentiation | 20q13.13 |
| SPATA20 | cell differentiation; spermatogenesis; multicellular organismal development; mannose metabolic process | 17q21.33 |
| SPATA20P1 | - | - |
| SPATA21 | - | 1p36.13 |
| SPATA22 | - | 17p13.3 |
| SPATA24 | cell differentiation; multicellular organismal development; spermatogenesis; regulation of transcription, DNA-dependent | 5q31.2 |
| SPATA25 | cell differentiation; spermatogenesis | 20q13.12 |
| SPATA2L | - | 16q24.3 |
| SPATA2P1 | - | - |
| SPATA3 | apoptotic process; spermatogenesis | 2q37.1 |
| SPATA3-AS1 | - | 2q37.1 |
| SPATA31A6 | - | 9p11.2 |
| SPATA31B1 | - | 9q21.32 |
| SPATA31D3 | - | 9q21.32 |
| SPATA31D5P | - | 9q21.32 |
| SPATA31E1 | - | 9q22.1 |
| SPATA31E2P | - | 15q11.2 |
| SPATA32 | - | 17q21.31 |
| SPATA33 | - | 16q24.3 |
| SPATA4 | apoptotic process; spermatogenesis | 4q34.2 |
| SPATA41 | - | 15q26.3 |
| SPATA5 | multicellular organismal development; cell differentiation; spermatogenesis | 4q28.1 |
| SPATA5L1 | - | 15q21.1 |
| SPATA6 | cell differentiation; multicellular organismal development; spermatogenesis | 1p33 |
| SPATA6L | - | 9p24.2 |
| SPATA7 | visual perception; spermatogenesis; response to stimulus | 14q31.3 |
| SPATA8 | - | 15q26.2 |
| SPATA9 | multicellular organismal development; spermatogenesis; cell differentiation | 5q15 |
| SPATC1 | - | 8q24.3 |
| SPATC1L | - | 21q22.3 |
| SPATS1 | - | 6p21.1 |
| SPATS2 | - | 12q13.12 |
| SPATS2L | - | 2q33.1 |
| SPC24 | cell division; M phase of mitotic cell cycle; mitotic cell cycle; mitotic prometaphase | 19p13.2 |
| SPC25 | cell division; chromosome segregation; mitotic spindle organization; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 2q31.1 |
| SPCS1 | proteolysis; SRP-dependent cotranslational protein targeting to membrane; signal peptide processing; gene expression; cellular protein metabolic process; translation; small molecule metabolic process; energy reserve metabolic process; regulation of insulin secretion | 3p21.1 |
| SPCS2 | regulation of insulin secretion; small molecule metabolic process; cellular protein metabolic process; gene expression; SRP-dependent cotranslational protein targeting to membrane; proteolysis; signal peptide processing; translation; energy reserve metabolic process | 11q13.4 |
| SPCS2P1 | - | 15q15.2 |
| SPCS3 | regulation of insulin secretion; small molecule metabolic process; cellular protein metabolic process; gene expression; energy reserve metabolic process; translation; signal peptide processing; proteolysis; SRP-dependent cotranslational protein targeting to membrane | 4q34.2 |
| SPDEF | multicellular organismal development; negative regulation of survival gene product expression; negative regulation of cell fate commitment; positive regulation of apoptotic process; positive regulation of transcription from RNA polymerase II promoter; lung goblet cell differentiation; positive regulation of cell fate commitment; negative regulation of transcription from RNA polymerase II promoter; intestinal epithelial cell development | 6p21.3 |
| SPDL1 | - | 5q35.1 |
| SPDYA | positive regulation of cyclin-dependent protein kinase activity; positive regulation of cell proliferation; multicellular organismal development; cell cycle; response to DNA damage stimulus; G1/S transition of mitotic cell cycle | 2p23.2 |
| SPDYC | cell cycle | 11q13.1 |
| SPDYE1 | - | 7p13 |
| SPDYE2 | - | 7q22.1 |
| SPDYE2B | - | 7q22.1 |
| SPDYE3 | - | 7q22.1 |
| SPDYE4 | - | 17p13.1 |
| SPDYE5 | - | 7q11.23 |
| SPDYE6 | - | 7q22.1 |
| SPDYE7P | - | 7q11.23 |
| SPDYE9P | - | 7q11.23 |
| SPECC1 | - | 17p11.2 |
| SPECC1L | cell cycle; cell division | 22q11.23 |
| SPEF1 | - | 20pter-q11.23 |
| SPEF2 | nucleobase-containing compound metabolic process | 5p13.2 |
| SPEG | negative regulation of cell proliferation; muscle cell differentiation; muscle organ development | 2q35 |
| SPEM1 | cell differentiation; spermatogenesis; multicellular organismal development | 17p13.1 |
| SPEN | negative regulation of transcription, DNA-dependent; interspecies interaction between organisms; positive regulation of transcription, DNA-dependent; positive regulation of neurogenesis; Notch signaling pathway; negative regulation of transcription from RNA polymerase II promoter | 1p36 |
| SPERT | - | 13q14.13 |
| SPESP1 | multicellular organismal development | 15q23 |
| SPG11 | cell death | 15q14 |
| SPG20 | cell death | 13q13.3 |
| SPG20-AS1 | - | 13q13.3 |
| SPG21 | antigen receptor-mediated signaling pathway; cell death | 15q21-q22 |
| SPG7 | mitochondrion organization; protein catabolic process; cell death; anterograde axon cargo transport; nervous system development; proteolysis | 16q24.3 |
| SPHAR | DNA replication | 1q42.13 |
| SPHK1 | sphingolipid biosynthetic process; cellular protein metabolic process; negative regulation of apoptotic process; positive regulation of NF-kappaB import into nucleus; intracellular signal transduction; protein folding; positive regulation of protein ubiquitination; positive regulation of cell migration; positive regulation of cell growth; anti-apoptosis; sphingolipid metabolic process; sphingosine metabolic process; positive regulation of fibroblast proliferation; calcium-mediated signaling; regulation of tumor necrosis factor-mediated signaling pathway; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; signal transduction; positive regulation of angiogenesis; positive regulation of mitotic cell cycle; positive regulation of smooth muscle contraction; sphingoid catabolic process; 'de novo' posttranslational protein folding; positive regulation of NF-kappaB transcription factor activity; small molecule metabolic process | 17q25.2 |
| SPHK2 | sphingolipid biosynthetic process; positive regulation of cell proliferation; cell proliferation; brain development; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; anti-apoptosis; sphingosine metabolic process; sphinganine-1-phosphate biosynthetic process; sphingolipid metabolic process; blood vessel development; small molecule metabolic process | 19q13.2 |
| SPHKAP | - | 2q36 |
| SPI1 | positive regulation of transcription, DNA-dependent; negative regulation of histone H4 acetylation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; histone H3 acetylation; hypermethylation of CpG island; regulation of erythrocyte differentiation; negative regulation of gene expression, epigenetic | 11p11.2 |
| SPIB | regulation of transcription from RNA polymerase II promoter | 19q13.3-q13.4 |
| SPIC | - | 12q23.2 |
| SPICE1 | spindle assembly involved in mitosis; metaphase plate congression; cell division; regulation of centriole replication; cell cycle | 3q13.2 |
| SPIDR | - | 8q11.21 |
| SPIN1 | gamete generation; cell cycle; multicellular organismal development | 9q22.1 |
| SPIN2A | cell cycle; gamete generation | Xp11.1 |
| SPIN2B | apoptotic process; cell cycle; gamete generation | Xp11.1 |
| SPIN3 | gamete generation | Xp11.21 |
| SPIN4 | gamete generation | Xq11.1 |
| SPIN4-AS1 | - | - |
| SPINK1 | negative regulation of endopeptidase activity | 5q32 |
| SPINK13 | - | 5q32 |
| SPINK2 | negative regulation of endopeptidase activity | 4q12 |
| SPINK4 | - | 9p13.3 |
| SPINK5 | anagen; regulation of T cell differentiation; hair cell differentiation; epithelial cell differentiation; negative regulation of immune response; negative regulation of angiogenesis; extracellular matrix organization; epidermal cell differentiation | 5q32 |
| SPINK6 | - | 5q32 |
| SPINK9 | negative regulation of proteolysis | 5q32 |
| SPINT1 | embryonic placenta development; extracellular matrix organization; branching involved in embryonic placenta morphogenesis; placenta blood vessel development | 15q15.1 |
| SPINT2 | negative regulation of endopeptidase activity; cellular component movement | 19q13.1 |
| SPINT3 | - | 20q12-q13.1 |
| SPINT4 | - | 20q13.12 |
| SPIRE1 | transport | 18p11.21 |
| SPIRE2 | transport | 16q24 |
| SPN | positive regulation of T cell proliferation; negative regulation of T cell proliferation; positive regulation of tumor necrosis factor biosynthetic process; defense response to bacterium; negative thymic T cell selection; regulation of defense response to virus; regulation of immune response; leukocyte migration; induction of apoptosis by extracellular signals; T cell costimulation; response to protozoan; negative regulation of type IV hypersensitivity; chemotaxis; immune response; cellular defense response; establishment or maintenance of cell polarity; blood coagulation; cell surface receptor signaling pathway; signal transduction; negative regulation of cell adhesion | 16p11.2 |
| SPNS1 | transmembrane transport; lipid transport | 16p11.2 |
| SPNS2 | lipid transport; transmembrane transport | 17p13.2 |
| SPNS3 | lipid transport; transmembrane transport | 17p13.2 |
| SPO11 | spermatogenesis; zygotene; ovarian follicle development; DNA metabolic process; meiosis; reciprocal meiotic recombination; male meiosis I; protein localization to chromosome; female gamete generation; spermatid development | 20q13.31 |
| SPOCD1 | negative regulation of phosphatase activity; transcription, DNA-dependent | 1p35.2 |
| SPOCK1 | negative regulation of endopeptidase activity; neurogenesis; central nervous system neuron differentiation; negative regulation of neuron projection development; negative regulation of cell-substrate adhesion; nervous system development; signal transduction; cell adhesion; neuron migration; regulation of cell growth | 5q31.2 |
| SPOCK2 | signal transduction; extracellular matrix organization; regulation of cell differentiation; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; positive regulation of cell-substrate adhesion; synapse assembly | 10pter-q25.3 |
| SPOCK3 | negative regulation of endopeptidase activity; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; signal transduction | 4q32.3 |
| SPON1 | cell adhesion | 11p15.2 |
| SPON2 | axon guidance; innate immune response; cell adhesion | 4p16.3 |
| SPOP | mRNA processing | 17q21.33 |
| SPOPL | - | 2q22.1 |
| SPP1 | osteoblast differentiation; negative regulation of collateral sprouting of intact axon in response to injury; response to steroid hormone stimulus; decidualization; positive regulation of bone resorption; response to vitamin D; biomineral tissue development; positive regulation of cell-substrate adhesion; response to organic substance; embryo implantation; cell adhesion; inflammatory response; ossification | 4q22.1 |
| SPPL2A | proteolysis | 15q21.2 |
| SPPL2B | proteolysis | 19p13.3 |
| SPPL3 | proteolysis | 12q24.31 |
| SPR | oxidation-reduction process; nitric oxide biosynthetic process; regulation of nitric-oxide synthase activity; nitric oxide metabolic process; small molecule metabolic process; tetrahydrobiopterin biosynthetic process | 2p14-p12 |
| SPRED1 | regulation of signal transduction; negative regulation of phosphatase activity; inactivation of MAPK activity; multicellular organismal development | 15q14 |
| SPRED2 | regulation of signal transduction; multicellular organismal development; inactivation of MAPK activity | 2p14 |
| SPRED3 | regulation of signal transduction; multicellular organismal development | 19q13 |
| SPRN | - | 10q26.3 |
| SPRNP1 | - | 10q26.3 |
| SPRR1A | epidermis development; keratinization; keratinocyte differentiation; peptide cross-linking | 1q21-q22 |
| SPRR1B | peptide cross-linking; epidermis development; keratinization; keratinocyte differentiation | 1q21-q22 |
| SPRR2B | epidermis development; keratinocyte differentiation; keratinization | 1q21-q22 |
| SPRR2D | epidermis development; keratinocyte differentiation; keratinization | 1q21-q22 |
| SPRR2F | keratinocyte differentiation; keratinization; epidermis development | 1q21-q22 |
| SPRR3 | epidermis development; peptide cross-linking; keratinocyte differentiation; keratinization; wound healing | 1q21-q22 |
| SPRTN | - | 1q42.12-q43 |
| SPRY1 | negative regulation of epidermal growth factor receptor signaling pathway; metanephros development; ureteric bud development; organ induction; epidermal growth factor receptor signaling pathway; multicellular organismal development; negative regulation of cell proliferation; regulation of signal transduction; negative regulation of Ras GTPase activity; negative regulation of fibroblast growth factor receptor signaling pathway; negative regulation of MAP kinase activity; negative regulation of Ras protein signal transduction; negative regulation of nerve growth factor receptor signaling pathway; negative regulation of ERK1 and ERK2 cascade | 4q28.1 |
| SPRY2 | branching morphogenesis of a tube; lung growth; negative regulation of ERK1 and ERK2 cascade; positive regulation of ERK1 and ERK2 cascade; positive regulation of protein serine/threonine kinase activity; lung morphogenesis; cell fate commitment; negative regulation of MAP kinase activity; negative regulation of Ras protein signal transduction; negative regulation of apoptotic process; positive regulation of protein kinase B signaling cascade; negative regulation of nerve growth factor receptor signaling pathway; negative regulation of fibroblast growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; multicellular organismal development; sensory perception of sound; negative regulation of cell proliferation; fibroblast growth factor receptor signaling pathway; regulation of signal transduction; inner ear morphogenesis; negative regulation of epidermal growth factor receptor signaling pathway; positive regulation of gene expression; positive regulation of peptidyl-serine | 13q31.1 |
| SPRY3 | regulation of signal transduction; multicellular organismal development | Xq28 and Yq12 |
| SPRY4 | negative regulation of MAP kinase activity; regulation of signal transduction; multicellular organismal development | 5q31.3 |
| SPRY4-IT1 | - | 5q31.3 |
| SPRYD3 | - | 12q13.13 |
| SPRYD4 | - | 12q13.3 |
| SPRYD7 | - | 13q14 |
| SPSB1 | intracellular signal transduction | 1p36.22 |
| SPSB2 | intracellular signal transduction | 12p13.31 |
| SPSB3 | intracellular signal transduction | 16p13.3 |
| SPSB4 | intracellular signal transduction | 3q23 |
| SPTA1 | actin filament capping; regulation of cell shape; hemopoiesis; porphyrin-containing compound biosynthetic process; actin filament organization; axon guidance | 1q21 |
| SPTAN1 | actin filament capping; axon guidance; cellular component disassembly involved in apoptosis; apoptotic process | 9q34.11 |
| SPTB | axon guidance; actin filament capping | 14q23-q24.2 |
| SPTBN1 | axon guidance; actin filament capping; SMAD protein import into nucleus; common-partner SMAD protein phosphorylation | 2p21 |
| SPTBN2 | axon guidance; cell death; vesicle-mediated transport; actin filament capping | 11q13 |
| SPTBN4 | positive regulation of multicellular organism growth; actin filament capping; fertilization; transmission of nerve impulse; adult walking behavior; adult behavior; vesicle-mediated transport; cytoskeletal anchoring at plasma membrane; axon guidance; sensory perception of sound | 19q13.13 |
| SPTBN5 | actin filament capping; actin cytoskeleton organization; axon guidance | 15q21 |
| SPTLC1 | sphinganine biosynthetic process; sphingolipid metabolic process; sphingomyelin biosynthetic process; biosynthetic process; sphingolipid biosynthetic process; small molecule metabolic process; sphingosine biosynthetic process | 9q22.2 |
| SPTLC1P1 | - | - |
| SPTLC1P5 | - | - |
| SPTLC2 | small molecule metabolic process; sphingomyelin biosynthetic process; sphingolipid metabolic process; biosynthetic process; sphingolipid biosynthetic process; sphinganine biosynthetic process; sphingosine biosynthetic process | 14q24.3 |
| SPTLC3 | sphingoid biosynthetic process; small molecule metabolic process; sphingolipid biosynthetic process; biosynthetic process; sphingolipid metabolic process | 20p12.1 |
| SPTSSA | sphingolipid biosynthetic process | 14q13.1 |
| SPTSSB | sphingolipid biosynthetic process | 3q26.1 |
| SPTY2D1 | - | 11p15.1 |
| SPTY2D1-AS1 | - | - |
| SPX | - | 12p12.1 |
| SPZ1 | regulation of transcription, DNA-dependent | 5q14.1 |
| SQLE | cholesterol biosynthetic process; small molecule metabolic process; sterol biosynthetic process; cellular aromatic compound metabolic process; response to organic substance | 8q24.1 |
| SQRDL | cellular nitrogen compound metabolic process; small molecule metabolic process; sulfide oxidation, using sulfide:quinone oxidoreductase; sulfur amino acid metabolic process; sulfur amino acid catabolic process | 15q15 |
| SQSTM1 | anti-apoptosis; cell differentiation; macroautophagy; endosome transport; induction of apoptosis by extracellular signals; protein localization; intracellular signal transduction; regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of transcription from RNA polymerase II promoter; regulation of Ras protein signal transduction; response to stress; autophagy; apoptotic process; nerve growth factor receptor signaling pathway; ubiquitin-dependent protein catabolic process | 5q35 |
| SRA1 | regulation of transcription, DNA-dependent; apoptotic process; cell proliferation; cell differentiation; positive regulation of transcription from RNA polymerase II promoter | 5q31.3 |
| SRBD1 | nucleobase-containing compound metabolic process | 2p21 |
| SRC | platelet activation; peptidyl-tyrosine phosphorylation; phosphorylation; cellular membrane organization; fibroblast growth factor receptor signaling pathway; blood coagulation; axon guidance; Ras protein signal transduction; intracellular protein kinase cascade; epidermal growth factor receptor signaling pathway; signal complex assembly; signal transduction; cell adhesion; cell cycle; protein phosphorylation; T cell costimulation; uterus development; leukocyte migration; oogenesis; nerve growth factor receptor signaling pathway; bone resorption; regulation of bone resorption; interspecies interaction between organisms; regulation of vascular permeability; positive regulation of integrin activation; regulation of intracellular estrogen receptor signaling pathway; forebrain development; branching involved in mammary gland duct morphogenesis; positive regulation of ERK1 and ERK2 cascade; response to interleukin-1; positive regulation of canonical Wnt receptor signaling pathway; negative regulation of extrinsic a | 20q12-q13 |
| SRCAP | interspecies interaction between organisms; regulation of transcription from RNA polymerase II promoter; histone acetylation; chromatin modification | 16p11.2 |
| SRCIN1 | positive regulation of protein tyrosine kinase activity; regulation of dendritic spine morphogenesis; substrate adhesion-dependent cell spreading; regulation of cell migration; exocytosis; negative regulation of protein tyrosine kinase activity; negative regulation of cell adhesion | 17q12 |
| SRD5A1 | response to drug; progesterone metabolic process; pituitary gland development; serotonin metabolic process; cellular response to insulin stimulus; response to follicle-stimulating hormone stimulus; female genitalia development; male genitalia development; cell differentiation; cerebral cortex development; sex differentiation; circadian sleep/wake cycle, REM sleep; small molecule metabolic process; bone development; response to growth hormone stimulus; response to fungicide; cellular response to cAMP; cellular response to growth factor stimulus; cellular response to estradiol stimulus; cellular response to testosterone stimulus; cellular response to organic cyclic compound; cellular response to dexamethasone stimulus; thalamus development; cellular response to epinephrine stimulus; urogenital system development; liver development; androgen biosynthetic process; sex determination; steroid metabolic process; male gonad development; cellular response to starvation; response to muscle activity; diterpenoid metabol | 5p15 |
| SRD5A1P1 | - | Xq24-qter |
| SRD5A2 | small molecule metabolic process; androgen biosynthetic process; cell-cell signaling; sex differentiation; steroid metabolic process; androgen metabolic process; male gonad development; cell differentiation | 2p23 |
| SRD5A3 | polyprenol catabolic process; dolichol metabolic process; steroid metabolic process; dolichol-linked oligosaccharide biosynthetic process; androgen biosynthetic process; small molecule metabolic process | 4q12 |
| SREBF1 | positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; lipid metabolic process; steroid metabolic process; cholesterol metabolic process; lipid biosynthetic process; cellular response to starvation; positive regulation of triglyceride biosynthetic process | 17p11.2 |
| SREBF2 | negative regulation of cholesterol efflux; lipid metabolic process; spermatogenesis; aging; steroid metabolic process; cholesterol metabolic process; response to hormone stimulus; response to lead ion; positive regulation of cholesterol storage; positive regulation of transcription via sterol regulatory element binding; response to drug; positive regulation of transcription from RNA polymerase II promoter; response to low-density lipoprotein particle stimulus; cellular response to laminar fluid shear stress; regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter; response to lipid | 22q13 |
| SREK1 | mRNA processing; RNA splicing | 5q12.3 |
| SREK1IP1 | mRNA processing; RNA splicing | 5q12.3 |
| SRF | actin filament organization; tight junction assembly; cell-matrix adhesion; multicellular organismal development; gastrulation; heart development; long-term memory; negative regulation of cell proliferation; associative learning; response to toxin; megakaryocyte development; erythrocyte development; neuron development; developmental growth; muscle cell homeostasis; positive regulation of smooth muscle contraction; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell differentiation; sarcomere organization; positive thymic T cell selection; skin morphogenesis; stress fiber assembly; dorsal aorta morphogenesis; response to hormone stimulus; response to cytokine stimulus; regulation of water loss via skin; neuron projection development; negative regulation of cell migration; platelet formation; platelet activation; regulation of cell adhesion; contractile actin filament bundle assembly; tangential migration from the subventricular zone to the olfactory bulb; hippocamp | 6p21.1 |
| SRFBP1 | regulation of transcription, DNA-dependent | 5q23.1 |
| SRGAP1 | regulation of small GTPase mediated signal transduction; signal transduction; small GTPase mediated signal transduction; Rho protein signal transduction; axon guidance; cell migration | 12q14.2 |
| SRGAP2 | regulation of small GTPase mediated signal transduction; signal transduction; small GTPase mediated signal transduction; axon guidance | 1q32.1 |
| SRGAP2-AS1 | - | 1q32.1 |
| SRGAP2B | - | 1q21.1 |
| SRGAP2C | - | 1p11.2 |
| SRGAP3 | small GTPase mediated signal transduction; signal transduction; regulation of small GTPase mediated signal transduction | 3p25.3 |
| SRGAP3-AS1 | - | - |
| SRGAP3-AS3 | - | 3p25.3 |
| SRGAP3-AS4 | - | - |
| SRGN | negative regulation of bone mineralization; platelet degranulation; apoptotic process; blood coagulation; protein processing; platelet activation; biomineral tissue development; mast cell secretory granule organization; T cell secretory granule organization; maintenance of protease location in mast cell secretory granule; maintenance of granzyme B location in T cell secretory granule; negative regulation of cytokine secretion | 10q22.1 |
| SRI | intracellular sequestering of iron ion; regulation of action potential; transport; calcium ion transport; regulation of striated muscle contraction; signal transduction; heart development; muscle organ development; regulation of heart contraction | 7q21.1 |
| SRL | - | 16p13.3 |
| SRM | small molecule metabolic process; cellular nitrogen compound metabolic process; spermidine biosynthetic process; polyamine metabolic process | 1p36-p22 |
| SRMP1 | - | 20q13.13 |
| SRMP2 | - | 14q23.1 |
| SRMS | - | - |
| SRP14 | translation; cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; gene expression; response to drug; cellular protein metabolic process; protein targeting to ER; negative regulation of translational elongation | 15q22 |
| SRP14-AS1 | - | 15q15.1 |
| SRP14P1 | - | 12p13.31 |
| SRP19 | cellular protein metabolic process; response to drug; gene expression; SRP-dependent cotranslational protein targeting to membrane; translation; cotranslational protein targeting to membrane | 5q21-q22 |
| SRP54 | translation; cellular protein metabolic process; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane, translocation; SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition; gene expression; response to drug; GTP catabolic process; protein targeting to ER | 14q13.2 |
| SRP68 | translation; SRP-dependent cotranslational protein targeting to membrane; gene expression; response to drug; cellular protein metabolic process | 17q25.1 |
| SRP68P2 | - | 17p11.1 |
| SRP68P3 | - | 17p11.1 |
| SRP72 | response to drug; gene expression; SRP-dependent cotranslational protein targeting to membrane; translation; cellular protein metabolic process | 4q11 |
| SRP72P1 | - | 18q21.1 |
| SRP72P2 | - | 6q25.3 |
| SRP9 | translation; negative regulation of translational elongation; cellular protein metabolic process; gene expression; SRP-dependent cotranslational protein targeting to membrane | 1q42.12 |
| SRPK1 | interspecies interaction between organisms; sperm chromatin condensation; cell differentiation; RNA splicing; intracellular protein kinase cascade; chromosome segregation; protein phosphorylation; positive regulation of viral genome replication; negative regulation of viral genome replication; regulation of nuclear mRNA splicing, via spliceosome; regulation of mRNA processing; innate immune response | 6p21.31 |
| SRPK2 | protein phosphorylation; angiogenesis; spliceosome assembly; mRNA processing; regulation of nuclear mRNA splicing, via spliceosome; positive regulation of cell cycle; innate immune response; negative regulation of viral genome replication; positive regulation of viral genome replication; positive regulation of neuron apoptosis; nuclear speck organization; cell differentiation; positive regulation of gene expression; RNA splicing; positive regulation of cell proliferation; intracellular protein kinase cascade | 7q22-q31.1 |
| SRPK3 | muscle tissue development; protein phosphorylation; multicellular organismal development; cell differentiation; skeletal muscle tissue development; muscle organ development | Xq28 |
| SRPRA | translation; cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; gene expression; transport; intracellular protein transport; cellular protein metabolic process; endoplasmic reticulum unfolded protein response; activation of signaling protein activity involved in unfolded protein response | 11q24.2 |
| SRPRB | translation; SRP-dependent cotranslational protein targeting to membrane; activation of signaling protein activity involved in unfolded protein response; cellular protein metabolic process; endoplasmic reticulum unfolded protein response; gene expression; small GTPase mediated signal transduction | 3q22.1 |
| SRPX | cell adhesion | Xp21.1 |
| SRPX2 | angiogenesis; cell motility; cell-cell adhesion; positive regulation of cell migration involved in sprouting angiogenesis; regulation of phosphorylation | Xq21.33-q23 |
| SRR | D-serine metabolic process; D-serine biosynthetic process; protein homotetramerization; response to morphine; pyruvate biosynthetic process; response to drug; response to lipopolysaccharide; response to organic cyclic compound; serine family amino acid metabolic process; aging; L-serine metabolic process; brain development | 17p13 |
| SRRD | rhythmic process | 22q12.1 |
| SRRM1 | mRNA export from nucleus; RNA splicing, via transesterification reactions; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; RNA splicing; mRNA 3'-end processing; gene expression | 1p36.11 |
| SRRM1P1 | - | 8q24.21 |
| SRRM1P3 | - | Xq26.3 |
| SRRM2 | RNA splicing; nuclear mRNA splicing, via spliceosome | 16p13.3 |
| SRRM2-AS1 | - | 16p13.3 |
| SRRM3 | - | 7q11.23 |
| SRRM4 | cell differentiation; nervous system development; mRNA processing; regulation of RNA splicing | 12q24.23 |
| SRRT | response to arsenic-containing substance; primary miRNA processing; gene silencing by RNA; cell proliferation | 7q21 |
| SRSF1 | RNA splicing; nuclear mRNA 5'-splice site recognition; nuclear mRNA splicing, via spliceosome; in utero embryonic development; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA splice site selection; mRNA processing; mRNA export from nucleus; gene expression; mRNA 3'-end processing; cardiac muscle contraction | 17q22 |
| SRSF10 | negative regulation of nuclear mRNA splicing, via spliceosome; mRNA export from nucleus; cytoplasmic transport; mRNA splice site selection; regulation of transcription, DNA-dependent; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions; assembly of spliceosomal tri-snRNP | 1p36.11 |
| SRSF10P1 | - | 18q21.2 |
| SRSF11 | termination of RNA polymerase II transcription; mRNA 3'-end processing; gene expression; RNA splicing; mRNA export from nucleus; mRNA processing; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome | 1p31 |
| SRSF12 | negative regulation of nuclear mRNA splicing, via spliceosome; cytoplasmic transport; RNA splicing; mRNA processing; nuclear mRNA 5'-splice site recognition; regulation of alternative nuclear mRNA splicing, via spliceosome; assembly of spliceosomal tri-snRNP | 6q15 |
| SRSF2 | nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; gene expression; mRNA export from nucleus; RNA splicing; mRNA 3'-end processing | 17q25.1 |
| SRSF3 | nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA export from nucleus; RNA splicing; gene expression; mRNA 3'-end processing | 6p21 |
| SRSF4 | negative regulation of nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; mRNA export from nucleus; RNA splicing; gene expression; mRNA 3'-end processing | 1p35.3 |
| SRSF5 | RNA splicing; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA splice site selection; mRNA processing; mRNA export from nucleus; gene expression; mRNA 3'-end processing | 14q24 |
| SRSF6 | nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA splice site selection; mRNA export from nucleus; RNA splicing; gene expression; mRNA 3'-end processing; negative regulation of nuclear mRNA splicing, via spliceosome | 20q12-q13.1 |
| SRSF7 | mRNA 3'-end processing; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; mRNA export from nucleus; RNA splicing; gene expression; negative regulation of nuclear mRNA splicing, via spliceosome; nuclear mRNA splicing, via spliceosome | 2p22.1 |
| SRSF8 | mRNA processing; RNA splicing | 11q22 |
| SRSF9 | negative regulation of nuclear mRNA splicing, via spliceosome; mRNA export from nucleus; RNA splicing; gene expression; mRNA 3'-end processing; mRNA processing; mRNA splice site selection; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome | 12q24.31 |
| SRXN1 | response to oxidative stress | 20p13 |
| SRY | cell differentiation; positive regulation of male gonad development; positive regulation of transcription, DNA-dependent; male sex determination; sex differentiation | Yp11.3 |
| SS18 | positive regulation of transcription from RNA polymerase II promoter; ephrin receptor signaling pathway; microtubule cytoskeleton organization; cell morphogenesis; regulation of transcription, DNA-dependent; intracellular protein kinase cascade; response to drug | 18q11.2 |
| SS18L1 | dendrite development; chromatin modification; positive regulation of transcription, DNA-dependent | 20q13.3 |
| SS18L2 | - | 3p21 |
| SS18L2P1 | - | 10p11.21 |
| SSB | histone mRNA metabolic process; tRNA modification; RNA processing | 2q31.1 |
| SSBP1 | mitochondrion morphogenesis; positive regulation of helicase activity; DNA replication | 7q34 |
| SSBP2 | regulation of transcription, DNA-dependent | 5q14.1 |
| SSBP3 | protein complex assembly; positive regulation of cell proliferation; prechordal plate formation; midbrain-hindbrain boundary initiation; negative regulation of apoptotic process; positive regulation of transcription from RNA polymerase II promoter; head morphogenesis; positive regulation of anterior head development | 1p32.3 |
| SSBP4 | - | 19p13.1 |
| SSC4D | - | 7q11.23 |
| SSC5D | - | 19q13.42 |
| SSFA2 | - | 2q31.3 |
| SSH1 | protein dephosphorylation; regulation of axonogenesis; regulation of cellular protein metabolic process; actin cytoskeleton organization; cellular response to ATP; regulation of lamellipodium assembly; regulation of actin polymerization or depolymerization; cell morphogenesis | 12q24.11 |
| SSH2 | regulation of lamellipodium assembly; protein dephosphorylation; regulation of actin polymerization or depolymerization; actin cytoskeleton organization; regulation of axonogenesis | 17q11.2 |
| SSH3 | protein dephosphorylation; regulation of actin polymerization or depolymerization; regulation of lamellipodium assembly; regulation of axonogenesis | 11q13.2 |
| SSMEM1 | - | 7q32.2 |
| SSNA1 | G2/M transition of mitotic cell cycle; mitotic cell cycle | 9q34.3 |
| SSPN | muscle contraction; cell adhesion | 12p11.2 |
| SSPO | cell adhesion | 7q36.1 |
| SSR1 | SRP-dependent cotranslational protein targeting to membrane; cotranslational protein targeting to membrane; translation; activation of signaling protein activity involved in unfolded protein response; positive regulation of cell proliferation; gene expression; endoplasmic reticulum unfolded protein response; cellular protein metabolic process | 6p24.3 |
| SSR1P1 | - | - |
| SSR2 | SRP-dependent cotranslational protein targeting to membrane; translation; cotranslational protein targeting to membrane; gene expression; cellular protein metabolic process | 1q21-q23 |
| SSR3 | translation; SRP-dependent cotranslational protein targeting to membrane; gene expression; cellular protein metabolic process | 3q25.31 |
| SSR4 | translation; SRP-dependent cotranslational protein targeting to membrane; intracellular protein transport; gene expression; cellular protein metabolic process | Xq28 |
| SSR4P1 | - | 21q22.3 |
| SSRP1 | DNA replication; DNA repair; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction; positive regulation of viral transcription | 11q12 |
| SSSCA1 | cell cycle; mitosis; cell division | 11q13.1 |
| SSSCA1-AS1 | - | 11q13.1 |
| SSTR1 | negative regulation of cell proliferation; digestion; response to nutrient; cell-cell signaling; neuropeptide signaling pathway; glutamate receptor signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; cell surface receptor signaling pathway | 14q13 |
| SSTR2 | cellular response to glucocorticoid stimulus; cellular response to estradiol stimulus; response to starvation; forebrain development; peristalsis; cerebellum development; negative regulation of cell proliferation; digestion; spermatogenesis; synaptic transmission; cell-cell signaling; neuropeptide signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; regulation of muscle contraction; response to nutrient | 17q24 |
| SSTR3 | response to starvation; cellular response to estradiol stimulus; cellular response to glucocorticoid stimulus; forebrain development; cerebellum development; negative regulation of cell proliferation; spermatogenesis; cell-cell signaling; G-protein signaling, coupled to cyclic nucleotide second messenger; induction of apoptosis by hormones | 22q13.1 |
| SSTR5 | G-protein coupled receptor signaling pathway; cellular response to glucocorticoid stimulus; regulation of insulin secretion; glucose homeostasis; negative regulation of cell proliferation; inhibition of adenylate cyclase activity by G-protein signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger | 16p13.3 |
| SSTR5-AS1 | - | 16p13.3 |
| SSU72 | mRNA processing | 1p36.33 |
| SSU72P8 | mRNA processing | 7q31.33 |
| SSUH2 | - | 3p26.1 |
| SSX1 | regulation of transcription, DNA-dependent | Xp11.23 |
| SSX2 | - | Xp11.22 |
| SSX2IP | cell adhesion | 1p22.3 |
| SSX3 | regulation of transcription, DNA-dependent | Xp11.23 |
| SSX4B | regulation of transcription, DNA-dependent | Xp11.23 |
| SSX5 | regulation of transcription, DNA-dependent | Xp11.23 |
| SSX6 | regulation of transcription, DNA-dependent | Xp11.2 |
| SSX7 | regulation of transcription, DNA-dependent | Xp11.23 |
| SSX8 | regulation of transcription, DNA-dependent | Xp11.23 |
| SSXP10 | - | 6q22.31 |
| SSXP3 | - | Xp11.2 |
| SSXP4 | - | Xp11.2 |
| SSXP5 | - | Xp11.2 |
| ST13 | chaperone cofactor-dependent protein refolding; negative regulation of protein refolding; protein homooligomerization; protein folding | 22q13.2 |
| ST13P1 | - | 2p25.1 |
| ST13P10 | - | 11q23.1 |
| ST13P12 | - | 5q14.2 |
| ST13P13 | - | 10q24.33 |
| ST13P15 | - | - |
| ST13P16 | - | - |
| ST13P17 | - | 7q34 |
| ST13P18 | - | Xq21.32 |
| ST13P2 | - | 2q32.1 |
| ST13P20 | - | 1p31.1 |
| ST13P21 | - | 1p13.3 |
| ST13P3 | - | 12q23.3 |
| ST13P4 | chaperone cofactor-dependent protein refolding; protein homooligomerization; protein folding; negative regulation of protein refolding | 13q14.3 |
| ST13P5 | - | 11p15.1 |
| ST13P6 | - | 8q24.22 |
| ST13P7 | - | 7q33 |
| ST13P8 | - | 12q14.1 |
| ST14 | proteolysis | 11q24-q25 |
| ST18 | negative regulation of transcription from RNA polymerase II promoter | 8q11.23 |
| ST20 | - | 15q25.1 |
| ST20-AS1 | - | 15q25.1 |
| ST3GAL1 | post-translational protein modification; cellular protein metabolic process; O-glycan processing; protein glycosylation; protein modification process; protein phosphorylation | 8q24.22 |
| ST3GAL2 | protein modification process; cellular protein metabolic process; post-translational protein modification; O-glycan processing; protein glycosylation; amino sugar metabolic process | 16q22.1 |
| ST3GAL3 | cellular protein metabolic process; protein glycosylation; O-glycan processing; post-translational protein modification | 1p34.1 |
| ST3GAL4 | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; O-glycan processing; protein glycosylation | 11q24.2 |
| ST3GAL4-AS1 | - | 11q24.2 |
| ST3GAL5 | ganglioside biosynthetic process; glycosphingolipid biosynthetic process; protein glycosylation; carbohydrate metabolic process | 2p11.2 |
| ST3GAL6 | protein glycosylation; protein modification process; cellular response to interleukin-6; oligosaccharide metabolic process; glycolipid metabolic process | 3q12.1 |
| ST3GAL6-AS1 | - | - |
| ST5 | positive regulation of ERK1 and ERK2 cascade | 11p15 |
| ST6GAL1 | humoral immune response; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; O-glycan processing; metabolic process; protein glycosylation; protein modification process | 3q27-q28 |
| ST6GAL2 | growth; oligosaccharide metabolic process; multicellular organismal development; protein glycosylation | 2q11.2-q12.1 |
| ST6GAL2-IT1 | - | - |
| ST6GALNAC1 | protein glycosylation | 17q25.1 |
| ST6GALNAC2 | cellular protein metabolic process; post-translational protein modification; O-glycan processing; protein glycosylation | 17q25.1 |
| ST6GALNAC2P1 | - | - |
| ST6GALNAC3 | protein glycosylation; glycosylceramide metabolic process; glycosphingolipid metabolic process; glycoprotein metabolic process | 1p31.1 |
| ST6GALNAC4 | protein glycosylation; glycolipid metabolic process; O-glycan processing; post-translational protein modification; cellular protein metabolic process | 9q34 |
| ST6GALNAC4P1 | - | - |
| ST6GALNAC5 | oligosaccharide biosynthetic process; glycosphingolipid biosynthetic process; protein glycosylation | 1p31.1 |
| ST6GALNAC6 | glycosphingolipid metabolic process; ganglioside biosynthetic process; glycoprotein metabolic process; oligosaccharide biosynthetic process; protein glycosylation; glycosylceramide metabolic process; cell-cell recognition | 9q34.11 |
| ST7 | - | 7q31.2 |
| ST7-AS1 | - | 7q31.2 |
| ST7-AS2 | - | 7q31.2 |
| ST7-OT3 | - | 7q31.3 |
| ST7-OT4 | - | 7q31.2 |
| ST7L | negative regulation of cell growth | 1p13.2 |
| ST8SIA1 | carbohydrate metabolic process; protein glycosylation; lipid metabolic process; sphingolipid metabolic process; glycosphingolipid biosynthetic process; positive regulation of cell proliferation; cellular response to heat | 12p12.1-p11.2 |
| ST8SIA2 | post-translational protein modification; ganglioside biosynthetic process; carbohydrate metabolic process; protein modification process; protein glycosylation; N-glycan processing; nervous system development; axon guidance; oligosaccharide metabolic process; protein N-linked glycosylation via asparagine; cellular protein metabolic process | 15q26 |
| ST8SIA3 | post-translational protein modification; ganglioside biosynthetic process; protein glycosylation; oligosaccharide metabolic process; cellular protein metabolic process; N-glycan processing; glycosphingolipid biosynthetic process; protein N-linked glycosylation via asparagine; glycoprotein metabolic process | 18q21.31 |
| ST8SIA4 | ganglioside biosynthetic process; axon guidance; oligosaccharide metabolic process; nervous system development; N-glycan processing; protein glycosylation; protein modification process | 5q21 |
| ST8SIA5 | glycosphingolipid biosynthetic process; protein glycosylation; metabolic process; carbohydrate metabolic process | 18q21.1 |
| ST8SIA6 | oligosaccharide metabolic process; glycolipid biosynthetic process; glycoprotein metabolic process; protein O-linked glycosylation; ganglioside biosynthetic process; carbohydrate biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 10p12.33 |
| ST8SIA6-AS1 | - | 10p12.33 |
| STAB1 | inflammatory response; cell-cell signaling; receptor-mediated endocytosis; cell adhesion; defense response to bacterium; negative regulation of angiogenesis | 3p21.1 |
| STAB2 | endocytosis; angiogenesis; receptor-mediated endocytosis; cell adhesion; defense response to bacterium | 12q23.3 |
| STAC | intracellular signal transduction; signal transduction; cellular response to heat | 3p22.3 |
| STAC2 | intracellular signal transduction | 17q12 |
| STAC3 | intracellular signal transduction | 12q13.3 |
| STAG1 | mitotic prometaphase; mitotic cell cycle; cell division; M phase of mitotic cell cycle; chromosome segregation; mitotic metaphase/anaphase transition | 3q22.3 |
| STAG2 | mitotic prometaphase; cell division; M phase of mitotic cell cycle; negative regulation of DNA endoreduplication; meiosis; mitotic metaphase/anaphase transition; sister chromatid cohesion; mitotic cell cycle | Xq25 |
| STAG3 | cell cycle; chromosome segregation; meiosis; synaptonemal complex assembly | 7q22.1 |
| STAG3L1 | - | 7q11.23 |
| STAG3L2 | - | 7q11.23 |
| STAG3L3 | - | 7q11.23 |
| STAG3L4 | - | 7p11.2-q11.2 |
| STAG3L5P | - | 7q22.1 |
| STAM | negative regulation of epidermal growth factor receptor signaling pathway; intracellular protein transport; signal transduction; epidermal growth factor receptor signaling pathway; cellular membrane organization; endosome transport | 10p14-p13 |
| STAM-AS1 | - | 10p12.33 |
| STAM2 | intracellular protein transport; negative regulation of epidermal growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; cellular membrane organization; endosome transport | 2q23.3 |
| STAMBP | positive regulation of cell proliferation; anti-apoptosis; proteolysis; JAK-STAT cascade | 2p13.1 |
| STAMBPL1 | proteolysis | 10q23.31 |
| STAP1 | transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; cellular membrane fusion; intracellular protein transport | 4q13.2 |
| STAP2 | - | 19p13.3 |
| STAR | C21-steroid hormone biosynthetic process; cellular lipid metabolic process; glucocorticoid metabolic process; steroid metabolic process; lipid transport; transport; steroid biosynthetic process; regulation of steroid biosynthetic process; small molecule metabolic process | 8p11.2 |
| STARD10 | - | 11q13 |
| STARD13 | regulation of small GTPase mediated signal transduction; signal transduction; small GTPase mediated signal transduction | 13q12-q13 |
| STARD13-AS | - | - |
| STARD13-IT1 | - | - |
| STARD3 | transport; lipid metabolic process; steroid biosynthetic process; mitochondrial transport; lipid transport; steroid metabolic process; cholesterol metabolic process | 17q11-q12 |
| STARD3NL | - | 7p14-p13 |
| STARD4 | transport; lipid transport | 5q22.1 |
| STARD4-AS1 | - | 5q22.1 |
| STARD5 | lipid transport; small molecule metabolic process; steroid metabolic process; transport; C21-steroid hormone biosynthetic process | 15q26 |
| STARD6 | lipid transport; transport | 18q21.2 |
| STARD7 | - | 2q11.2 |
| STARD7-AS1 | - | 2q11.2 |
| STARD8 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | Xq13.1 |
| STARD9 | microtubule-based movement; metabolic process; spindle assembly | 15q15.2 |
| STARP1 | - | 13q21.32 |
| STAT1 | response to peptide hormone stimulus; endothelial cell migration; response to cAMP; interspecies interaction between organisms; response to exogenous dsRNA; negative regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; response to cytokine stimulus; tumor necrosis factor-mediated signaling pathway; response to lipopolysaccharide; lipopolysaccharide-mediated signaling pathway; cytokine-mediated signaling pathway; negative regulation of angiogenesis; response to bacterium; response to virus; blood circulation; JAK-STAT cascade; induction of apoptosis; regulation of transcription from RNA polymerase II promoter; negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; positive regulation of mesenchymal cell proliferation; negative regulation of endothelial cell proliferation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; positive regulation of smooth | 2q32.2 |
| STAT2 | regulation of transcription from RNA polymerase II promoter; regulation of type I interferon-mediated signaling pathway; type I interferon-mediated signaling pathway; interspecies interaction between organisms; cytokine-mediated signaling pathway; response to virus; JAK-STAT cascade | 12q13.3 |
| STAT3 | cellular response to hormone stimulus; response to organic cyclic compound; cytokine-mediated signaling pathway; sexual reproduction; intracellular receptor mediated signaling pathway; response to estradiol stimulus; cell proliferation; negative regulation of transcription from RNA polymerase II promoter; temperature homeostasis; eye photoreceptor cell differentiation; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; protein import into nucleus; cellular component movement; acute-phase response; signal transduction; JAK-STAT cascade; nervous system development; response to cytokine stimulus; regulation of multicellular organism growth; interleukin-6-mediated signaling pathway; nerve growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of Notch signaling pathway; response to ethanol; interspecies interaction between organisms | 17q21.31 |
| STAT4 | JAK-STAT cascade; positive regulation of transcription from RNA polymerase II promoter; cytokine-mediated signaling pathway; cell proliferation; regulation of transcription, DNA-dependent; protein phosphorylation | 2q32.2-q32.3 |
| STAT5A | response to peptide hormone stimulus; allantoin metabolic process; luteinization; citrate metabolic process; 2-oxoglutarate metabolic process; succinate metabolic process; oxaloacetate metabolic process; positive regulation of multicellular organism growth; regulation of cell adhesion; regulation of epithelial cell differentiation; response to nutrient levels; positive regulation of natural killer cell differentiation; negative regulation of mast cell apoptosis; JAK-STAT cascade; T cell differentiation in thymus; regulation of multicellular organism growth; regulation of transcription from RNA polymerase II promoter; positive regulation of activated T cell proliferation; T cell homeostasis; negative regulation of apoptotic process; positive regulation of B cell differentiation; fatty acid metabolic process; creatine metabolic process; valine metabolic process; isoleucine metabolic process; response to ethanol; female pregnancy; lactation; positive regulation of cell proliferation; peptidyl-tyrosine phosphoryl | 17q11.2 |
| STAT5B | positive regulation of survival gene product expression; positive regulation of inflammatory response; positive regulation of mitotic cell cycle; positive regulation of transcription from RNA polymerase II promoter; positive regulation of natural killer cell mediated cytotoxicity; creatinine metabolic process; development of secondary female sexual characteristics; development of secondary male sexual characteristics; Peyer's patch development; positive regulation of smooth muscle cell proliferation; oxaloacetate metabolic process; lactation; citrate metabolic process; 2-oxoglutarate metabolic process; succinate metabolic process; regulation of epithelial cell differentiation; regulation of cell adhesion; lipid storage; taurine metabolic process; cytokine-mediated signaling pathway; regulation of steroid metabolic process; liver development; female pregnancy; sex differentiation; JAK-STAT cascade; acute-phase response; fatty acid metabolic process; creatine metabolic process; valine metabolic process; isoleuc | 17q11.2 |
| STAT6 | positive regulation of transcription from RNA polymerase II promoter; positive regulation of isotype switching to IgE isotypes; regulation of cell proliferation; response to cytokine stimulus; cytokine-mediated signaling pathway; signal transduction; regulation of transcription from RNA polymerase II promoter; negative regulation of type 2 immune response; negative regulation of transcription from RNA polymerase II promoter | 12q13 |
| STAU1 | intracellular mRNA localization | 20q13.1 |
| STAU2 | transport | 8q21.11 |
| STBD1 | muscle contraction | 4q21.1 |
| STC1 | decidualization; cellular response to hypoxia; cellular response to glucocorticoid stimulus; cellular response to cAMP; response to vitamin D; response to organic cyclic compound; embryo implantation; cell-cell signaling; cell surface receptor signaling pathway; cellular calcium ion homeostasis; response to nutrient; ossification | 8p21-p11.2 |
| STC2 | cellular response to hypoxia; decidualization; response to peptide hormone stimulus; response to vitamin D; response to nutrient; embryo implantation; cell surface receptor signaling pathway; cell-cell signaling | 5q35.1 |
| STEAP1 | iron ion homeostasis; transport; ion transport; electron transport chain | 7q21 |
| STEAP1B | - | 7p15.3 |
| STEAP2 | iron ion homeostasis; regulated secretory pathway; electron transport chain; response to hormone stimulus; endocytosis; Golgi to plasma membrane transport; ion transport | 7q21.13 |
| STEAP3 | cellular iron ion homeostasis; ion transport; apoptotic process; cell cycle; protein secretion; transferrin transport; transmembrane transport | 2q14.2 |
| STEAP3-AS1 | - | - |
| STEAP4 | ion transport; fat cell differentiation; iron ion homeostasis | 7q21.12 |
| STGC3 | - | 3p21 |
| STIL | negative regulation of apoptotic process; embryonic axis specification; in utero embryonic development; neural tube closure; heart looping; smoothened signaling pathway; multicellular organismal development; determination of left/right symmetry; neural tube development; forebrain development; notochord development; floor plate development; multicellular organism growth; cell proliferation | 1p32 |
| STIM1 | regulation of calcium ion transport; activation of store-operated calcium channel activity; blood coagulation; cation transport; detection of calcium ion | 11p15.5 |
| STIM2 | activation of store-operated calcium channel activity; positive regulation of calcium ion transport; negative regulation of calcium ion transport via store-operated calcium channel activity; cellular calcium ion homeostasis; ion transport | 4p15.2 |
| STIP1 | axon guidance; response to stress | 11q13 |
| STK10 | lymphocyte aggregation; protein autophosphorylation; cell cycle; protein phosphorylation; regulation of lymphocyte migration | 5q35.1 |
| STK11 | positive regulation of transforming growth factor beta receptor signaling pathway; negative regulation of cell growth; regulation of Wnt receptor signaling pathway; establishment of cell polarity; response to ionizing radiation; insulin receptor signaling pathway; negative regulation of cell proliferation; spermatid development; cell cycle arrest; cell cycle; response to DNA damage stimulus; autophagy; protein phosphorylation; energy reserve metabolic process; response to glucagon stimulus; positive regulation of protein phosphorylation; protein autophosphorylation; vasculature development; positive regulation of axonogenesis; protein heterooligomerization; Golgi localization; regulation of protein kinase B signaling cascade; canonical Wnt receptor signaling pathway; negative regulation of epithelial cell proliferation involved in prostate gland development; signal transduction by p53 class mediator resulting in induction of apoptosis; regulation of fatty acid oxidation; positive regulation of gluconeogenesis | 19p13.3 |
| STK11IP | protein localization | 2q35 |
| STK16 | positive regulation of transcription from RNA polymerase II promoter; protein autophosphorylation | 2q35 |
| STK17A | regulation of reactive oxygen species metabolic process; positive regulation of apoptotic process; intracellular protein kinase cascade; induction of apoptosis; protein phosphorylation | 7p13 |
| STK17B | protein phosphorylation; intracellular protein kinase cascade; induction of apoptosis; apoptotic process | 2q32.3 |
| STK19 | protein phosphorylation | 6p21.3 |
| STK24 | negative regulation of cell migration; protein phosphorylation; apoptotic process; induction of apoptosis; cellular component disassembly involved in apoptosis; signal transduction; induction of apoptosis by oxidative stress; regulation of axon regeneration; protein autophosphorylation | 13q31.2-q32.3 |
| STK24-AS1 | - | - |
| STK25 | signal transduction; protein phosphorylation; response to oxidative stress; Golgi localization; positive regulation of axonogenesis; establishment or maintenance of cell polarity | 2q37.3 |
| STK26 | - | Xq26.2 |
| STK3 | negative regulation of cell proliferation; negative regulation of canonical Wnt receptor signaling pathway; positive regulation of protein serine/threonine kinase activity; cell differentiation involved in embryonic placenta development; primitive hemopoiesis; positive regulation of protein kinase B signaling cascade; negative regulation of organ growth; positive regulation of JNK cascade; positive regulation of apoptotic process; hippo signaling cascade; central nervous system development; intracellular protein kinase cascade; signal transduction; apoptotic process; protein phosphorylation; endocardium development; neural tube formation | 8q22.2 |
| STK31 | - | 7p15.3 |
| STK32A | - | 5q32 |
| STK32B | - | 4p16.2 |
| STK32C | - | 10q26.3 |
| STK33 | protein autophosphorylation | 11p15.3 |
| STK33P1 | - | 9q21.33 |
| STK35 | - | 20p13 |
| STK36 | regulation of sequence-specific DNA binding transcription factor activity; positive regulation of smoothened signaling pathway; cell projection organization; cilium assembly; post-embryonic development; protein phosphorylation; positive regulation of hh target transcription factor activity | 2q35 |
| STK38 | protein modification process; protein phosphorylation; intracellular protein kinase cascade; negative regulation of MAP kinase activity | 6p21 |
| STK38L | regulation of cellular component organization; protein phosphorylation; intracellular protein kinase cascade | 12p11.23 |
| STK39 | positive regulation of potassium ion transport; protein phosphorylation; signal transduction by phosphorylation; response to stress | 2q24.3 |
| STK4 | cell differentiation involved in embryonic placenta development; central nervous system development; primitive hemopoiesis; protein autophosphorylation; negative regulation of organ growth; positive regulation of apoptotic process; hippo signaling cascade; keratinocyte differentiation; peptidyl-serine phosphorylation; negative regulation of cell proliferation; negative regulation of canonical Wnt receptor signaling pathway; intracellular protein kinase cascade; signal transduction; induction of apoptosis; protein phosphorylation; endocardium development; neural tube formation; patterning of blood vessels; cell morphogenesis; positive regulation of protein serine/threonine kinase activity | 20q11.2-q13.2 |
| STK4-AS1 | - | - |
| STK40 | - | 1p34.3 |
| STKLD1 | - | 9q34.2 |
| STMN1 | microtubule depolymerization; mitotic spindle organization; signal transduction; multicellular organismal development; nervous system development; response to virus; intracellular signal transduction; cell differentiation | 1p36.11 |
| STMN2 | positive regulation of microtubule depolymerization; intracellular signal transduction; negative regulation of microtubule polymerization; neuron differentiation; negative regulation of neuron projection development; positive regulation of neuron projection development; negative regulation of microtubule depolymerization | 8q21.13 |
| STMN3 | nervous system development; cytoplasmic microtubule organization; neuron projection development; regulation of Rac GTPase activity; negative regulation of Rac protein signal transduction; regulation of cytoskeleton organization; intracellular signal transduction | 20q13.3 |
| STMN4 | intracellular signal transduction | 8p21.2 |
| STMND1 | - | 6p22.3 |
| STOM | protein homooligomerization | 9q34.1 |
| STOML1 | - | 15q24-q25 |
| STOML2 | - | 9p13.1 |
| STON1 | intracellular protein transport; regulation of endocytosis | 2p16.3 |
| STON1-GTF2A1L | endocytosis; intracellular protein transport; transcription initiation from RNA polymerase II promoter | 2p16.3 |
| STON2 | regulation of endocytosis; intracellular protein transport | 14q31.1 |
| STOX1 | - | 10q22.1 |
| STOX2 | embryo development; maternal placenta development | 4q35.1 |
| STPG1 | - | 1p36.11 |
| STPG2 | - | 4q22.3-q23 |
| STRA13 | resolution of meiotic recombination intermediates; positive regulation of protein ubiquitination; replication fork processing; DNA repair | 17q25.3 |
| STRA6 | learning; adrenal gland development; female genitalia development; vocal learning; ear development; nose morphogenesis; lung alveolus development; positive regulation of behavior; digestive tract morphogenesis; embryonic digestive tract development; lung vasculature development; embryonic camera-type eye formation; eyelid development in camera-type eye; uterus morphogenesis; alveolar primary septum development; pulmonary artery morphogenesis; paramesonephric duct development; lung development; diaphragm development; developmental growth; face morphogenesis; head morphogenesis; head development; neuromuscular process; cognition; artery morphogenesis; smooth muscle tissue development; blood vessel development; heart development; transport; ventricular septum development; feeding behavior; kidney development; pulmonary valve morphogenesis | 15q24.1 |
| STRA8 | ovarian follicle development; cellular response to retinoic acid; oocyte development; regulation of organ growth; meiotic DNA double-strand break formation; meiotic cell cycle DNA replication checkpoint; fertilization; spermatogenesis; reciprocal meiotic recombination; synapsis; DNA replication; meiosis; female meiosis sister chromatid cohesion; meiotic chromosome condensation | 7q33 |
| STRADA | cell cycle; protein heterooligomerization; regulation of fatty acid oxidation; activation of protein kinase activity; insulin receptor signaling pathway; cell cycle arrest; positive regulation of protein phosphorylation; protein phosphorylation; protein export from nucleus | 17q23.3 |
| STRADB | JNK cascade; insulin receptor signaling pathway; activation of protein kinase activity; regulation of fatty acid oxidation; cell cycle arrest; cell cycle; anti-apoptosis; cell morphogenesis; protein export from nucleus; protein phosphorylation | 2q33.1 |
| STRADBP1 | - | 7q36.1 |
| STRAP | negative regulation of transcription from RNA polymerase II promoter; mRNA processing; RNA splicing; negative regulation of transforming growth factor beta receptor signaling pathway | 12p12.3 |
| STRBP | cellular component movement; spermatid development; mechanosensory behavior; cell differentiation; spermatogenesis; multicellular organismal development | 9q33.3 |
| STRC | sensory perception of sound | 15q15.3 |
| STRIP1 | - | 1p13.3 |
| STRIP2 | - | 7q32.1 |
| STRN | negative regulation of cell proliferation; locomotory behavior; dendrite development; tight junction assembly; Wnt receptor signaling pathway | 2p22.2 |
| STRN3 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of intracellular estrogen receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; response to estradiol stimulus | 14q13-q21 |
| STRN4 | - | 19q13.2 |
| STS | learning or memory; sphingolipid metabolic process; glycosphingolipid metabolic process; steroid catabolic process; female pregnancy; positive regulation of cell proliferation; epidermis development; response to pH; response to peptide hormone stimulus; skin development; response to estrogen stimulus; small molecule metabolic process; response to organic cyclic compound | Xp22.32 |
| STT3A | protein glycosylation; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 11q23.3 |
| STT3B | protein N-linked glycosylation via asparagine; protein glycosylation | 3p23 |
| STUB1 | cellular response to misfolded protein; positive regulation of chaperone-mediated protein complex assembly; protein K63-linked ubiquitination; protein autoubiquitination; protein maturation; proteasomal ubiquitin-dependent protein catabolic process; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; regulation of glucocorticoid metabolic process; positive regulation of protein ubiquitination; ubiquitin-dependent SMAD protein catabolic process; protein ubiquitination; misfolded or incompletely synthesized protein catabolic process; ubiquitin-dependent protein catabolic process; DNA repair; protein polyubiquitination | 16p13.3 |
| STX10 | intracellular protein transport; retrograde transport, endosome to Golgi; Golgi vesicle transport | 19p13.2 |
| STX11 | vesicle-mediated transport; cellular membrane fusion; intracellular protein transport | 6q24.2 |
| STX12 | intracellular protein transport; protein stabilization; cholesterol efflux; vesicle-mediated transport | 1p35.3 |
| STX16 | retrograde transport, endosome to Golgi; vesicle-mediated transport; intra-Golgi vesicle-mediated transport; intracellular protein transport | 20q13.32 |
| STX17 | vesicle-mediated transport; intracellular protein transport | 9q31.1 |
| STX17-AS1 | - | 9q31.1 |
| STX18 | vesicle-mediated transport; ER to Golgi vesicle-mediated transport; intracellular protein transport | 4p16.3-p16.2 |
| STX18-AS1 | - | - |
| STX19 | vesicle-mediated transport; intracellular protein transport | 3q11 |
| STX1A | synaptic vesicle docking involved in exocytosis; regulation of insulin secretion; positive regulation of exocytosis; small molecule metabolic process; calcium ion-dependent exocytosis; vesicle-mediated transport; glutamate secretion; response to gravity; neurotransmitter secretion; synaptic transmission; intracellular protein transport; energy reserve metabolic process; positive regulation of neurotransmitter secretion | 7q11.23 |
| STX1B | intracellular protein transport; regulation of exocytosis; neurotransmitter transport; transport; synaptic transmission; vesicle-mediated transport | 16p11.2 |
| STX2 | ectoderm development; epithelial cell differentiation; microvillus assembly; vesicle-mediated transport; organ morphogenesis; acrosome reaction; signal transduction; cytokinesis; cytokinetic cell separation; intracellular protein transport; plasma membrane fusion; digestive tract morphogenesis | 12q24.33 |
| STX3 | neurotransmitter transport; intracellular protein transport; exocytosis; cellular membrane fusion; neuron projection development; cellular response to oxidative stress | 11q12.1 |
| STX4 | cellular membrane fusion; blood coagulation; cellular membrane organization; synaptic vesicle docking involved in exocytosis; vesicle-mediated transport; platelet activation; post-Golgi vesicle-mediated transport; intracellular protein transport; neurotransmitter transport; protein complex assembly | 16p11.2 |
| STX5 | vesicle fusion with Golgi apparatus; retrograde transport, endosome to Golgi; vesicle targeting; ER to Golgi vesicle-mediated transport; intracellular protein transport | 11q12.3 |
| STX6 | endosome organization; intracellular protein transport; vesicle fusion; Golgi vesicle transport; retrograde transport, endosome to Golgi | 1q25.3 |
| STX7 | endosome to lysosome transport; intracellular protein transport; post-Golgi vesicle-mediated transport; vesicle fusion | 6q23.1 |
| STX8 | transport | 17p12 |
| STXBP1 | synaptic vesicle maturation; negative regulation of synaptic transmission, GABAergic; small molecule metabolic process; regulation of insulin secretion; platelet aggregation; vesicle-mediated transport; platelet degranulation; energy reserve metabolic process; vesicle docking involved in exocytosis; synaptic transmission; neurotransmitter secretion; axon target recognition; regulation of synaptic vesicle priming; glutamate secretion; protein transport | 9q34.1 |
| STXBP2 | regulation of mast cell degranulation; neutrophil degranulation; protein transport; response to acidity; vesicle docking involved in exocytosis; leukocyte mediated cytotoxicity | 19p13.3-p13.2 |
| STXBP3 | negative regulation of calcium ion-dependent exocytosis; platelet aggregation; neutrophil degranulation; platelet activation; vesicle-mediated transport; protein transport; blood coagulation; vesicle docking involved in exocytosis | 1p13.3 |
| STXBP4 | protein targeting; insulin receptor signaling pathway; glucose transport | 17q22 |
| STXBP5 | positive regulation of exocytosis; protein transport | 6q24.3 |
| STXBP5-AS1 | - | 6q24.3 |
| STXBP5L | exocytosis; protein transport | 3q13.33 |
| STXBP6 | vesicle-mediated transport | 14q12 |
| STYK1 | - | 12p13.2 |
| STYX | protein dephosphorylation; spermatogenesis | - |
| STYXL1 | intracellular signal transduction; protein dephosphorylation | 7q11.23 |
| SUB1 | regulation of transcription from RNA polymerase II promoter | 5p13.3 |
| SUB1P2 | - | 14q24.3 |
| SUCLA2 | small molecule metabolic process; succinyl-CoA pathway; succinate metabolic process; succinyl-CoA metabolic process; tricarboxylic acid cycle | 13q12.2-q13.3 |
| SUCLG1 | succinyl-CoA metabolic process; small molecule metabolic process; succinate metabolic process; tricarboxylic acid cycle | 2p11.2 |
| SUCLG2 | small molecule metabolic process; tricarboxylic acid cycle; succinyl-CoA metabolic process | 3p14.1 |
| SUCLG2-AS1 | - | - |
| SUCLG2P4 | - | 5p13.3 |
| SUCNR1 | - | 3q25.1 |
| SUCO | - | 1q24 |
| SUDS3 | negative regulation of transcription, DNA-dependent; chromatin modification | 12q24.23 |
| SUDS3P1 | - | 5q35.3 |
| SUFU | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; skeletal system development; neural tube closure; heart looping; negative regulation of smoothened signaling pathway; proteolysis; signal transduction; multicellular organismal development; determination of left/right symmetry; spinal cord dorsal/ventral patterning; negative regulation of transcription factor import into nucleus; cytoplasmic sequestering of transcription factor; negative regulation of sequence-specific DNA binding transcription factor activity; skin development; negative regulation of osteoblast differentiation | 10q24.32 |
| SUGCT | - | 7p14.1 |
| SUGP1 | RNA splicing; nuclear mRNA splicing, via spliceosome; gene expression | 19p13.11 |
| SUGP2 | mRNA processing; RNA splicing | 19p12 |
| SUGT1 | innate immune response; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; mitosis | 13q14.3 |
| SUGT1P1 | - | 9p13.3 |
| SUGT1P2 | - | 3p22.3 |
| SUGT1P3 | - | 13q14.11 |
| SULF1 | positive regulation of BMP signaling pathway; negative regulation of prostatic bud formation; innervation; bone development; cartilage development; embryonic skeletal system development; vascular endothelial growth factor receptor signaling pathway; negative regulation of fibroblast growth factor receptor signaling pathway; regulation of fibroblast growth factor receptor signaling pathway; glial cell-derived neurotrophic factor receptor signaling pathway; glomerular basement membrane development; negative regulation of cell migration; heparan sulfate proteoglycan metabolic process; positive regulation of Wnt receptor signaling pathway; negative regulation of angiogenesis; esophagus smooth muscle contraction; positive regulation vascular endothelial growth factor production; apoptotic process; glomerular filtration; chondrocyte development; negative regulation of endothelial cell proliferation; kidney development | 8q13.1 |
| SULF2 | esophagus smooth muscle contraction; negative regulation of fibroblast growth factor receptor signaling pathway; positive regulation of Wnt receptor signaling pathway; heparan sulfate proteoglycan metabolic process; glomerular basement membrane development; kidney development; positive regulation vascular endothelial growth factor production; glomerular filtration; glial cell-derived neurotrophic factor receptor signaling pathway; embryonic skeletal system development; cartilage development; bone development; innervation; chondrocyte development | 20q12-q13.2 |
| SULT1A1 | sulfation; small molecule metabolic process; flavonoid metabolic process; amine metabolic process; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; estrogen metabolic process; xenobiotic metabolic process; catecholamine metabolic process | 16p12.1 |
| SULT1A2 | catecholamine metabolic process; sulfation; xenobiotic metabolic process; steroid metabolic process; amine biosynthetic process; phenol-containing compound metabolic process; small molecule metabolic process; 3'-phosphoadenosine 5'-phosphosulfate metabolic process | 16p12.1 |
| SULT1A3 | - | 16p11.2 |
| SULT1A4 | catecholamine metabolic process; xenobiotic metabolic process; activation of signaling protein activity involved in unfolded protein response; flavonoid metabolic process; small molecule metabolic process; steroid metabolic process; endoplasmic reticulum unfolded protein response; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; sulfation | - |
| SULT1B1 | cellular biogenic amine metabolic process; xenobiotic metabolic process; steroid metabolic process; sulfation; flavonoid metabolic process; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; small molecule metabolic process; phenol-containing compound metabolic process; thyroid hormone metabolic process | 4q13.3 |
| SULT1C2 | sulfation; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; small molecule metabolic process; amine metabolic process; xenobiotic metabolic process | 2q12.3 |
| SULT1C3 | - | 2q12.3 |
| SULT1D1P | - | 4q13.3 |
| SULT1E1 | small molecule metabolic process; xenobiotic metabolic process; female pregnancy; sulfation; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; estrogen metabolic process; steroid metabolic process | 4q13.1 |
| SULT2A1 | xenobiotic metabolic process; digestion; steroid metabolic process; bile acid catabolic process; cellular lipid metabolic process; sulfation; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; small molecule metabolic process | 19q13.3 |
| SULT2B1 | sulfate assimilation; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; small molecule metabolic process; steroid metabolic process; xenobiotic metabolic process | 19q13.3 |
| SULT4A1 | small molecule metabolic process; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; steroid metabolic process; xenobiotic metabolic process | 22q13.2 |
| SUMF1 | - | 3p26.1 |
| SUMF2 | - | 7q11.1 |
| SUMO1 | interferon-gamma-mediated signaling pathway; palate development; negative regulation of transcription, DNA-dependent; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of DNA binding; regulation of protein localization; DNA repair; protein sumoylation; regulation of interferon-gamma-mediated signaling pathway; cytokine-mediated signaling pathway; positive regulation of protein complex assembly; positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 2q33 |
| SUMO1P1 | - | 20q13.2 |
| SUMO2 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process; protein sumoylation | 17q25.1 |
| SUMO2P1 | - | 6p22.1 |
| SUMO2P3 | - | 7p11.2 |
| SUMO2P6 | - | 5q35.2 |
| SUMO2P7 | - | 17q21.33 |
| SUMO3 | protein sumoylation | 21q22.3 |
| SUMO4 | - | 6q25 |
| SUN1 | nuclear matrix anchoring at nuclear membrane; cytoskeletal anchoring at nuclear membrane | 7p22.3 |
| SUN2 | nuclear envelope organization; positive regulation of cell migration; nuclear migration; mitotic spindle organization; nuclear matrix anchoring at nuclear membrane; nuclear migration along microfilament; cytoskeletal anchoring at nuclear membrane; centrosome localization | 22q13.1 |
| SUN3 | - | 7p12.3 |
| SUN5 | spermatogenesis | 20q11.21 |
| SUOX | sulfide oxidation, using sulfide:quinone oxidoreductase; small molecule metabolic process; cellular nitrogen compound metabolic process; response to nutrient; sulfur amino acid catabolic process; sulfur amino acid metabolic process | 12q13.2 |
| SUPT16H | nucleosome disassembly; positive regulation of viral transcription; regulation of transcription, DNA-dependent; DNA repair; DNA replication; transcription from RNA polymerase II promoter; positive regulation of transcription elongation, DNA-dependent; gene expression; transcription elongation from RNA polymerase II promoter; viral reproduction; cellular process | 14q11.2 |
| SUPT20H | - | 13q13.3 |
| SUPT20HL1 | - | Xp22.11 |
| SUPT20HL2 | - | Xp22.11 |
| SUPT3H | transcription initiation, DNA-dependent; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; histone deubiquitination; transcription from RNA polymerase II promoter; histone H3 acetylation | 6p21.1-p21.3 |
| SUPT4H1 | chromatin remodeling; negative regulation of transcription from RNA polymerase II promoter; positive regulation of viral transcription; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription elongation, DNA-dependent; negative regulation of transcription elongation, DNA-dependent; viral reproduction; gene expression; transcription elongation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 17q21-q23 |
| SUPT5H | negative regulation of transcription from RNA polymerase II promoter; positive regulation of viral transcription; positive regulation of transcription from RNA polymerase II promoter; retroviral genome replication; positive regulation of transcription elongation, DNA-dependent; viral reproduction; gene expression; response to organic substance; cell cycle; mRNA capping; transcription elongation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; positive regulation of transcription elongation from RNA polymerase II promoter; transcription elongation, DNA-dependent; chromatin remodeling; negative regulation of transcription elongation, DNA-dependent | 19q13 |
| SUPT6H | nucleobase-containing compound metabolic process; chromatin remodeling; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; regulation of transcription elongation, DNA-dependent | 17q11.2 |
| SUPT7L | regulation of transcription, DNA-dependent; histone H3 acetylation; maintenance of protein location in nucleus | 2p23.3 |
| SUPV3L1 | RNA catabolic process; mitochondrial mRNA catabolic process; positive regulation of mitochondrial RNA catabolic process; mitochondrial RNA 3'-end processing; mitochondrial RNA surveillance; chromatin maintenance; mitochondrion morphogenesis; mitochondrial mRNA surveillance; mitochondrial ncRNA surveillance; DNA duplex unwinding; positive regulation of cell growth; anti-apoptosis; DNA recombination | 10q22.1 |
| SURF1 | respiratory chain complex IV assembly; oxidation-reduction process; ion transmembrane transport; proton transport; aerobic respiration | 9q34.2 |
| SURF2 | - | 9q34.2 |
| SURF4 | early endosome to Golgi transport; protein exit from endoplasmic reticulum; positive regulation of organelle organization; Golgi organization | 9q34.2 |
| SURF6 | ribosome biogenesis | 9q34.2 |
| SUSD1 | - | 9q31.3-q33.1 |
| SUSD2 | immune response | 22q11-q12 |
| SUSD3 | - | 9q22.31 |
| SUSD4 | - | 1q41 |
| SUSD5 | cell adhesion | 3p22.3 |
| SUSD6 | - | 14q24.1 |
| SUV39H1 | histone lysine methylation; histone H3-K9 methylation; interspecies interaction between organisms; chromatin silencing at rDNA; chromatin organization; regulation of transcription, DNA-dependent; rRNA processing; cell cycle; chromatin modification; histone methylation; peptidyl-lysine methylation; cell differentiation | Xp11.23 |
| SUV39H2 | histone H3-K9 methylation; cell differentiation; cell cycle; regulation of transcription, DNA-dependent; chromatin remodeling; chromatin assembly or disassembly | 10p13 |
| SUZ12 | histone ubiquitination; regulation of transcription, DNA-dependent; positive regulation of cell proliferation; chromatin modification; negative regulation of cell differentiation; histone methylation; negative regulation of transcription from RNA polymerase II promoter | 17q11.2 |
| SUZ12P1 | - | 17q11.2 |
| SV2A | cellular calcium ion homeostasis; neurotransmitter transport | 1q21.2 |
| SV2B | neurotransmitter transport | 15q26.1 |
| SV2C | neurotransmitter transport | 5q13.3 |
| SVBP | - | 1p34.2 |
| SVEP1 | cell adhesion | 9q32 |
| SVIL | cytoskeleton organization; skeletal muscle tissue development | 10p11.2 |
| SVILP1 | - | 10p11.23 |
| SVIP | - | 11p14.2 |
| SVOP | - | 12q24.11 |
| SVOPL | - | 7q34 |
| SWAP70 | somatic cell DNA recombination; isotype switching | 11p15 |
| SWI5 | DNA repair; double-strand break repair via homologous recombination | 9q34.11 |
| SWSAP1 | double-strand break repair via homologous recombination; ATP catabolic process; DNA repair; DNA recombination; protein stabilization | 19p13.2 |
| SWT1 | - | 1q25 |
| SYAP1 | - | Xp22.2 |
| SYBU | - | 8q23.2 |
| SYCE1 | meiosis; cell cycle; meiotic prophase I; cell division | 10q26.3 |
| SYCE1L | meiosis | 16q23.1 |
| SYCE2 | cell division; meiotic prophase I; meiosis; cell cycle | 19p13.2 |
| SYCP1 | cell division; regulation of protein localization; spermatogenesis; reciprocal meiotic recombination; synaptonemal complex assembly; meiosis; cell cycle | 1p13-p12 |
| SYCP2 | cell cycle; cell division; synaptonemal complex assembly; meiotic prophase I; meiosis | 20q13.33 |
| SYCP2L | - | 6p24.2 |
| SYCP3 | meiosis; cell cycle; male meiosis I; spermatogenesis, exchange of chromosomal proteins; cell division | 12q |
| SYDE1 | signal transduction; regulation of small GTPase mediated signal transduction; activation of Rho GTPase activity; small GTPase mediated signal transduction | 19p13.12 |
| SYDE2 | regulation of small GTPase mediated signal transduction; activation of Rho GTPase activity; small GTPase mediated signal transduction; signal transduction | 1p22.3 |
| SYF2 | RNA splicing; nuclear mRNA splicing, via spliceosome | 1p36.11 |
| SYF2P1 | - | 14q12 |
| SYK | protein autophosphorylation; innate immune response; positive regulation of alpha-beta T cell proliferation; positive regulation of alpha-beta T cell differentiation; positive regulation of bone resorption; positive regulation of gamma-delta T cell differentiation; positive regulation of B cell differentiation; positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process; positive regulation of interleukin-3 biosynthetic process; lymph vessel development; blood vessel morphogenesis; positive regulation of peptidyl-tyrosine phosphorylation; regulation of phagocytosis; positive regulation of calcium-mediated signaling; B cell receptor signaling pathway; regulation of ERK1 and ERK2 cascade; cellular response to molecule of fungal origin; regulation of arachidonic acid secretion; regulation of platelet aggregation; beta selection; angiogenesis; serotonin secretion; adaptive immune response; macrophage activation involved in immune response; neutrophil activation involved in immune | 9q22 |
| SYMPK | mRNA processing; cell adhesion | 19q13.3 |
| SYN1 | synaptic transmission; transport; neurotransmitter secretion | Xp11.23 |
| SYN2 | synaptic transmission; neurotransmitter secretion | 3p25 |
| SYN3 | neurotransmitter secretion | 22q12.3 |
| SYNC | intermediate filament-based process | 1p35.1 |
| SYNCRIP | RNA processing; RNA splicing; interspecies interaction between organisms; CRD-mediated mRNA stabilization; nuclear mRNA splicing, via spliceosome | 6q14-q15 |
| SYNDIG1 | intracellular protein transport; response to biotic stimulus; positive regulation of synapse assembly; synaptic vesicle clustering | 20p11.21 |
| SYNDIG1L | response to biotic stimulus | 14q24.3 |
| SYNE1 | Golgi organization; nucleus organization; cell death; muscle cell differentiation; cytoskeletal anchoring at nuclear membrane; nuclear matrix anchoring at nuclear membrane | 6q25 |
| SYNE2 | centrosome localization; nuclear migration along microfilament; positive regulation of cell migration; nuclear migration; cytoskeletal anchoring at nuclear membrane | 14q23.2 |
| SYNE3 | - | 14q32.13 |
| SYNE4 | - | 19q13.12 |
| SYNGAP1 | regulation of small GTPase mediated signal transduction; regulation of long-term neuronal synaptic plasticity; regulation of synapse structure and activity; negative regulation of axonogenesis; regulation of synaptic plasticity; negative regulation of Ras protein signal transduction; regulation of MAPK cascade; receptor clustering; negative regulation of apoptotic process; positive regulation of Ras GTPase activity; dendrite development; visual learning; pattern specification process; signal transduction | 6p21.3 |
| SYNGR1 | regulation of short-term neuronal synaptic plasticity; regulation of long-term neuronal synaptic plasticity; protein targeting | 22q13.1 |
| SYNGR2 | - | 17q25.3 |
| SYNGR2P1 | - | 15q13.2 |
| SYNGR3 | positive regulation of transporter activity | 16p13 |
| SYNGR4 | - | 19q13.3 |
| SYNJ1 | learning; positive regulation of gliogenesis; phosphatidylinositol phosphorylation; synaptic vesicle priming; synaptic vesicle uncoating; response to retinoic acid; neurotransmitter transport; positive regulation of receptor-mediated endocytosis; phosphate-containing compound metabolic process; synaptic vesicle endocytosis; response to cytokine stimulus; phosphatidylinositol dephosphorylation; brain development | 21q22.2 |
| SYNJ2 | phosphatidylinositol dephosphorylation; inositol phosphate dephosphorylation; intracellular distribution of mitochondria; phosphatidylinositol phosphorylation; brain development | 6q25.3 |
| SYNJ2-IT1 | - | - |
| SYNJ2BP | intracellular distribution of mitochondria | 14q24.2 |
| SYNM | intermediate filament cytoskeleton organization | 15q26.3 |
| SYNPO | positive regulation of actin filament bundle assembly; regulation of stress fiber assembly | 5q33.1 |
| SYNPO2 | - | 4q26 |
| SYNPO2L | - | 10q22.2 |
| SYNPR | - | 3p14.2 |
| SYNPR-AS1 | - | - |
| SYNRG | endocytosis; intracellular protein transport | 17q12 |
| SYP | endocytosis; regulation of long-term neuronal synaptic plasticity; regulation of short-term neuronal synaptic plasticity; synaptic vesicle membrane organization; regulation of opioid receptor signaling pathway; synaptic vesicle maturation | Xp11.23-p11.22 |
| SYP-AS1 | - | - |
| SYPL1 | synaptic transmission | 7q22.3 |
| SYPL2 | cellular calcium ion homeostasis | 1p13.3 |
| SYS1 | protein transport | 20q13.12 |
| SYS1-DBNDD2 | - | 20q13.12 |
| SYT1 | regulation of exocytosis; detection of calcium ion; synaptic transmission; neurotransmitter secretion; glutamate secretion; synaptic vesicle exocytosis; regulation of calcium ion-dependent exocytosis; protein homooligomerization | 12cen-q21 |
| SYT10 | - | 12p11.1 |
| SYT11 | - | 1q21.2 |
| SYT12 | - | 11q13.2 |
| SYT13 | vesicle-mediated transport | 11p12-p11 |
| SYT14 | cell death | 1q32.2 |
| SYT15 | - | 10q11.1 |
| SYT16 | - | 14q23.2 |
| SYT17 | - | 16p12.3 |
| SYT2 | synaptic transmission; neurotransmitter secretion | 1q32.1 |
| SYT3 | - | 19q13.33 |
| SYT4 | neurotransmitter secretion | 18q12.3 |
| SYT5 | energy reserve metabolic process; synaptic transmission; small molecule metabolic process; regulation of insulin secretion | 19q|11p |
| SYT6 | acrosomal vesicle exocytosis | 1p13.2 |
| SYT7 | plasma membrane repair; regulation of insulin secretion; regulation of calcium ion-dependent exocytosis | 11q12-q13.1 |
| SYT8 | - | 11p15.5 |
| SYT9 | regulation of insulin secretion; regulation of calcium ion-dependent exocytosis | 11p15.4 |
| SYTL1 | intracellular protein transport; vesicle-mediated transport; exocytosis | 1p36.11 |
| SYTL2 | intracellular protein transport; exocytosis; vesicle docking involved in exocytosis; negative regulation of phosphatase activity; vesicle-mediated transport | 11q14 |
| SYTL3 | intracellular protein transport | 6q25.3 |
| SYTL4 | intracellular protein transport; positive regulation of exocytosis; negative regulation of insulin secretion; positive regulation of protein secretion; multivesicular body sorting pathway | Xq21.33 |
| SYTL5 | intracellular protein transport | Xp21.1 |
| SYVN1 | anti-apoptosis; response to stress; activation of signaling protein activity involved in unfolded protein response; ER-associated protein catabolic process; in utero embryonic development; endoplasmic reticulum unfolded protein response | 11q13 |
| SZRD1 | - | 1p36.13 |
| SZT2 | post-embryonic development; pigmentation; central nervous system development | 1p34.2 |
| T | positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation; heart morphogenesis; tail morphogenesis; neural tube closure; regulation of transcription, DNA-dependent; signal transduction; multicellular organismal development; mesoderm development; positive regulation of cell proliferation; anterior/posterior axis specification, embryo; reproductive process; signal transduction involved in regulation of gene expression; BMP signaling pathway; notochord development; neural plate morphogenesis; somitogenesis; vasculogenesis; cardiac muscle cell differentiation; canonical Wnt receptor signaling pathway; SMAD protein signal transduction; primitive streak formation | 6q27 |
| T1560 | - | 8q12.1 |
| TAAR6 | G-protein coupled receptor signaling pathway | 6q23.2 |
| TAB1 | nucleotide-binding oligomerization domain containing signaling pathway; stress-activated MAPK cascade; positive regulation of NF-kappaB transcription factor activity; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; activation of MAPKKK activity; activation of MAPK activity; in utero embryonic development; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; heart morphogenesis; transforming growth factor beta receptor signaling pathway; I-kappaB kinase/NF-kappaB cascade; JNK cascade; Toll signaling pathway; lung development; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; innate immune response; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway | 22q13.1 |
| TAB2 | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; Toll signaling pathway; heart development; JNK cascade; I-kappaB kinase/NF-kappaB cascade; MyD88-independent toll-like receptor signaling pathway; activation of MAPK activity; toll-like receptor signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; positive regulation of protein kinase activity; T cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; stress-activated MAPK cascade; nucleotide-binding oligomerization domain containing signaling pathway | 6q25.1 |
| TAB3 | toll-like receptor 2 signaling pathway; stress-activated MAPK cascade; nucleotide-binding oligomerization domain containing signaling pathway; positive regulation of NF-kappaB transcription factor activity; innate immune response; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor signaling pathway; toll-like receptor 1 signaling pathway; Toll signaling pathway; JNK cascade; I-kappaB kinase/NF-kappaB cascade; activation of MAPK activity; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway | Xp21.2 |
| TAC1 | response to hormone stimulus; detection of abiotic stimulus; associative learning; regulation of blood pressure; long-term memory; positive regulation of lymphocyte proliferation; insemination; negative regulation of heart rate; positive regulation of epithelial cell migration; sensory perception of pain; positive regulation of synaptic transmission, cholinergic; positive regulation of synaptic transmission, GABAergic; response to lipopolysaccharide; positive regulation of renal sodium excretion; response to morphine; positive regulation of action potential; response to pain; cell-cell signaling; neuropeptide signaling pathway; tachykinin receptor signaling pathway; elevation of cytosolic calcium ion concentration; inflammatory response; positive regulation of acute inflammatory response; positive regulation of stress fiber assembly; synaptic transmission | 7q21-q22 |
| TAC3 | positive regulation of blood pressure; tachykinin receptor signaling pathway; neuropeptide signaling pathway; female pregnancy; response to morphine | 12q13-q21 |
| TACC1 | cell cycle; microtubule cytoskeleton organization; cell proliferation; cerebral cortex development; neurogenesis; interkinetic nuclear migration; regulation of microtubule-based process; cell division | 8p11.22 |
| TACC1P1 | - | 10p11.21 |
| TACC2 | microtubule cytoskeleton organization; cell proliferation; cerebral cortex development; neurogenesis; interkinetic nuclear migration; astral microtubule organization; regulation of microtubule-based process | 10q26 |
| TACC3 | regulation of cell cycle; microtubule cytoskeleton organization; response to stress; cell proliferation; cerebral cortex development; neurogenesis; interkinetic nuclear migration; hemopoiesis; astral microtubule organization; regulation of microtubule-based process; cytoplasmic sequestering of transcription factor | 4p16.3 |
| TACO1 | regulation of translation | 17q23.3 |
| TACR1 | positive regulation of epithelial cell migration; response to ozone; response to hormone stimulus; detection of abiotic stimulus; response to heat; associative learning; response to ethanol; mechanosensory behavior; response to auditory stimulus; sensory perception of pain; positive regulation of synaptic transmission, cholinergic; positive regulation of synaptic transmission, GABAergic; response to nicotine; positive regulation of renal sodium excretion; operant conditioning; sperm ejaculation; eating behavior; response to morphine; positive regulation of vasoconstriction; positive regulation of blood pressure; positive regulation of action potential; behavior; positive regulation of uterine smooth muscle contraction; smooth muscle contraction involved in micturition; positive regulation of stress fiber assembly; positive regulation of epithelial cell proliferation; positive regulation of lymphocyte proliferation; behavioral response to pain; acute inflammatory response; inflammatory response; activation of | 2p12 |
| TACR2 | excretion; tachykinin receptor signaling pathway; muscle contraction | 10q22.1 |
| TACR3 | positive regulation of heart rate; positive regulation of uterine smooth muscle contraction; regulation of feeding behavior; positive regulation of blood pressure; response to morphine; hyperosmotic salinity response; response to cocaine; regulation of dopamine metabolic process; response to estradiol stimulus; aging; tachykinin receptor signaling pathway | 4q25 |
| TACSTD2 | cell surface receptor signaling pathway; visual perception; cell proliferation; negative regulation of epithelial cell migration; response to stimulus; negative regulation of stress fiber assembly; negative regulation of branching involved in ureteric bud morphogenesis; negative regulation of substrate adhesion-dependent cell spreading; negative regulation of ruffle assembly; negative regulation of cell motility | 1p32 |
| TADA1 | regulation of transcription, DNA-dependent; histone H3 acetylation | 1q24.1 |
| TADA2A | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; histone H3 acetylation | 17q12-q21 |
| TADA2B | regulation of transcription, DNA-dependent | 4p16.1 |
| TADA3 | histone H3 acetylation; intracellular estrogen receptor signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of gene expression; regulation of transcription from RNA polymerase II promoter | 3p25.3 |
| TAF1 | positive regulation of transcription from RNA polymerase II promoter; interspecies interaction between organisms; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; peptidyl-threonine phosphorylation; peptidyl-serine phosphorylation; histone acetylation; viral reproduction; gene expression; cell cycle; response to DNA damage stimulus; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription initiation, DNA-dependent; regulation of transcription involved in G2/M-phase of mitotic cell cycle; G1 phase of mitotic cell cycle; RNA polymerase II transcriptional preinitiation complex assembly; protein autophosphorylation; positive regulation of transcription initiation from RNA polymerase II promoter | Xq13.1 |
| TAF10 | transcription initiation, DNA-dependent; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction; histone deubiquitination; histone H3 acetylation; protein homooligomerization | 11p15.3 |
| TAF11 | positive regulation by host of viral transcription; viral reproduction; gene expression; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription elongation from RNA polymerase II promoter | 6p21.31 |
| TAF12 | positive regulation of sequence-specific DNA binding transcription factor activity; histone H3 acetylation; viral reproduction; gene expression; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; transcription initiation, DNA-dependent | 1p35.3 |
| TAF13 | transcription initiation, DNA-dependent; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction | 1p13.3 |
| TAF13P2 | - | - |
| TAF15 | positive regulation of transcription, DNA-dependent | 17q11.1-q11.2 |
| TAF1A | gene expression; transcription from RNA polymerase II promoter; termination of RNA polymerase I transcription; transcription elongation from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent | 1q42 |
| TAF1B | transcription elongation from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent; gene expression; transcription, DNA-dependent; termination of RNA polymerase I transcription | 2p25 |
| TAF1C | transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase I promoter; transcription elongation from RNA polymerase I promoter; termination of RNA polymerase I transcription; transcription from RNA polymerase II promoter; gene expression | 16q24 |
| TAF1D | regulation of transcription, DNA-dependent | 11q21 |
| TAF1L | transcription initiation, DNA-dependent; regulation of transcription from RNA polymerase II promoter; cell cycle; male meiosis; histone acetylation; positive regulation of transcription, DNA-dependent | 9p21.1 |
| TAF2 | transcription initiation from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; response to organic cyclic compound; regulation of transcription, DNA-dependent; G2/M transition of mitotic cell cycle | 8q24.12 |
| TAF3 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of sequence-specific DNA binding transcription factor activity; maintenance of protein location in nucleus | 10p15.1 |
| TAF4 | interspecies interaction between organisms; viral reproduction; gene expression; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; transcription initiation, DNA-dependent; ovarian follicle development; positive regulation of transcription, DNA-dependent | 20q13.33 |
| TAF4B | transcription initiation, DNA-dependent; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction | 18q11.2 |
| TAF5 | interspecies interaction between organisms; transcription initiation, DNA-dependent; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction; chromatin modification; histone acetylation | 10q24-q25.2 |
| TAF5L | transcription from RNA polymerase II promoter; histone H3 acetylation; regulation of transcription, DNA-dependent | 1q42.13 |
| TAF6 | regulation of sequence-specific DNA binding transcription factor activity; negative regulation of cell cycle; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; viral reproduction; gene expression; transcription initiation, DNA-dependent; negative regulation of cell proliferation | 7q22.1 |
| TAF6L | chromatin remodeling; transcription initiation, DNA-dependent; regulation of transcription from RNA polymerase II promoter; regulation of sequence-specific DNA binding transcription factor activity; histone H3 acetylation | 11q12.3 |
| TAF7 | negative regulation of protein kinase activity; negative regulation of transcription from RNA polymerase II promoter; spermine transport; transcription initiation, DNA-dependent; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; intracellular estrogen receptor signaling pathway; negative regulation of histone acetylation; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 5q31 |
| TAF7L | regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase II promoter; multicellular organismal development; spermatogenesis; cell differentiation | Xq22.1 |
| TAF8 | inner cell mass cell proliferation; multicellular organismal development; cell differentiation; regulation of fat cell differentiation; positive regulation of transcription, DNA-dependent; maintenance of protein location in nucleus | 6p21.1 |
| TAF9 | gene expression; positive regulation of transcription from RNA polymerase II promoter; histone H3 acetylation; negative regulation of apoptotic process; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of cell growth; viral reproduction; response to DNA damage stimulus; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; response to interleukin-1; positive regulation of response to cytokine stimulus; regulation of transcription, DNA-dependent | 5q11.2-q13.1 |
| TAF9B | negative regulation of apoptotic process; programmed cell death; positive regulation of cell growth; response to organic cyclic compound; negative regulation of transcription from RNA polymerase II promoter; transcription initiation, DNA-dependent; regulation of transcription, DNA-dependent | Xq13.1-q21.1 |
| TAF9P2 | - | Yq11.221 |
| TAGAP | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 6q25.3 |
| TAGLN | muscle organ development | 11q23.2 |
| TAGLN2 | muscle organ development | 1q21-q25 |
| TAGLN2P1 | - | 8q23.1 |
| TAGLN3 | central nervous system development; muscle organ development | 3q13.2 |
| TAL1 | definitive hemopoiesis; basophil differentiation; hemangioblast cell differentiation; hemopoietic stem cell differentiation; regulation of mast cell differentiation; regulation of stem cell maintenance; astrocyte fate commitment; positive regulation of transcription from RNA polymerase II promoter; positive regulation of mitotic cell cycle; positive regulation of transcription, DNA-dependent; positive regulation of chromatin assembly or disassembly; positive regulation of erythrocyte differentiation; regulation of myeloid cell differentiation; cell fate commitment; positive regulation of cell division; erythrocyte differentiation; angiogenesis; regulation of transcription from RNA polymerase II promoter; multicellular organismal development; locomotory behavior; spinal cord association neuron differentiation; hemopoiesis; neuron differentiation; erythrocyte maturation; megakaryocyte differentiation; platelet formation; negative regulation of transcription from RNA polymerase II promoter; positive regulation o | 1p32 |
| TAL2 | post-embryonic development; thalamus development; behavior; regulation of transcription, DNA-dependent; midbrain development; multicellular organism growth | 9q32 |
| TALDO1 | carbohydrate metabolic process; xylulose biosynthetic process; fructose 6-phosphate metabolic process; pentose-phosphate shunt; energy reserve metabolic process; pentose-phosphate shunt, non-oxidative branch; glyceraldehyde-3-phosphate metabolic process; small molecule metabolic process | 11p15.5-p15.4 |
| TALDO1P1 | - | 1p32.3 |
| TAMM41 | protein import into mitochondrial matrix; protein transport | 3p25.2 |
| TANC1 | - | 2q24.2 |
| TANC2 | - | 17q23.3 |
| TANGO2 | - | 22q11.21 |
| TANGO6 | - | 16q22.1 |
| TANK | signal transduction; I-kappaB kinase/NF-kappaB cascade; innate immune response | 2q24-q31 |
| TAOK1 | protein phosphorylation; regulation of cytoskeleton organization; positive regulation of JNK cascade; spindle checkpoint; G2/M transition DNA damage checkpoint; response to DNA damage stimulus; apoptotic process; DNA repair; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; positive regulation of stress-activated MAPK cascade | 17q11.2 |
| TAOK2 | regulation of cell shape; regulation of cell growth; focal adhesion assembly; positive regulation of JNK cascade; stress-activated MAPK cascade; positive regulation of stress-activated MAPK cascade; G2/M transition DNA damage checkpoint; activation of MAPKK activity; actin cytoskeleton organization; cell migration; response to DNA damage stimulus; response to stress; apoptotic process; protein targeting to membrane | 16p11.2 |
| TAOK3 | DNA repair; MAPK cascade; protein phosphorylation; response to DNA damage stimulus; G2/M transition DNA damage checkpoint; negative regulation of JNK cascade; positive regulation of JNK cascade; protein autophosphorylation; positive regulation of stress-activated MAPK cascade | 12q |
| TAP1 | transmembrane transport; positive regulation of T cell mediated cytotoxicity; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; defense response; protein transport; peptide transport; intracellular transport of viral proteins in host cell; antigen processing and presentation of endogenous peptide antigen via MHC class I; protection from natural killer cell mediated cytotoxicity; antigen processing and presentation of exogenous peptide antigen via MHC class I; interspecies interaction between organisms; cytosol to ER transport | 6p21.3 |
| TAP2 | intracellular transport of viral proteins in host cell; positive regulation of T cell mediated cytotoxicity; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent; antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent; antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent; positive regulation of antigen processing and presentation of peptide antigen via MHC class I; transmembrane transport; peptide antigen transport; cytosol to ER transport; interspecies interaction between organisms; antigen processing and presentation of exogenous peptide antigen via MHC class I; antigen processing and presentation of endogenous peptide antigen via MHC class I; peptide transport; protein transport | 6p21.3 |
| TAPBP | antigen processing and presentation of exogenous peptide antigen via MHC class I; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; protein complex assembly; retrograde vesicle-mediated transport, Golgi to ER; immune response; antigen processing and presentation of endogenous peptide antigen via MHC class I; peptide antigen stabilization | 6p21.3 |
| TAPBPL | antigen processing and presentation of endogenous peptide antigen via MHC class I | 12p13.31 |
| TAPT1 | in utero embryonic development; post-embryonic development; embryonic skeletal system development | 4p15.32 |
| TAPT1-AS1 | - | 4p15.32 |
| TARBP1 | RNA processing; regulation of transcription from RNA polymerase II promoter | 1q42.3 |
| TARBP2 | negative regulation of defense response to virus by host; regulation of viral transcription; positive regulation of viral genome replication; miRNA loading onto RISC involved in gene silencing by miRNA; pre-miRNA processing; gene silencing by RNA; targeting of mRNA for destruction involved in RNA interference; production of siRNA involved in RNA interference; negative regulation of protein kinase activity; regulation of translation; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 12q12-q13 |
| TARBP2P | - | 8q22.3 |
| TARDBP | mRNA processing; 3'-UTR-mediated mRNA stabilization; negative regulation by host of viral transcription; RNA splicing; cell death; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 1p36.22 |
| TARDBPP2 | - | 13q21.2 |
| TARP | - | 7p15-p14 |
| TARS | gene expression; translation; tRNA aminoacylation for protein translation; threonyl-tRNA aminoacylation | 5p13.2 |
| TARS2 | tRNA aminoacylation for protein translation; threonyl-tRNA aminoacylation; gene expression; mitochondrial threonyl-tRNA aminoacylation | 1q21.3 |
| TARSL2 | threonyl-tRNA aminoacylation | 15q26.3 |
| TAS1R1 | sensory perception of umami taste; detection of chemical stimulus involved in sensory perception of taste; response to stimulus | 1p36.23 |
| TAS1R2 | detection of chemical stimulus involved in sensory perception of sweet taste; G-protein coupled receptor signaling pathway; sensory perception of sweet taste; response to stimulus | 1p36.13 |
| TAS1R3 | sensory perception of umami taste; detection of chemical stimulus involved in sensory perception of sweet taste; G-protein coupled receptor signaling pathway; response to stimulus; sensory perception of sweet taste | 1p36.33 |
| TAS2R1 | G-protein coupled receptor signaling pathway; chemosensory behavior; response to stimulus; detection of chemical stimulus involved in sensory perception of taste | 5p15 |
| TAS2R10 | detection of chemical stimulus involved in sensory perception of taste; response to stimulus | 12p13 |
| TAS2R13 | detection of chemical stimulus involved in sensory perception of taste; response to stimulus | 12p13 |
| TAS2R14 | detection of chemical stimulus involved in sensory perception of taste; response to stimulus; G-protein coupled receptor signaling pathway; detection of chemical stimulus involved in sensory perception of bitter taste | 12p13 |
| TAS2R15 | - | 12p13.2 |
| TAS2R16 | sensory perception of taste; response to stimulus; G-protein coupled receptor signaling pathway; detection of chemical stimulus involved in sensory perception of bitter taste | 7q31.1-q31.3|7q31 |
| TAS2R18 | - | 12p13.2 |
| TAS2R20 | response to stimulus; sensory perception of taste | 12p13.2 |
| TAS2R3 | detection of chemical stimulus involved in sensory perception of taste; sensory perception of taste; response to stimulus; signal transduction | 7q31.3-q32 |
| TAS2R30 | sensory perception of taste; response to stimulus | 12p13.2 |
| TAS2R31 | response to stimulus; sensory perception of taste | 12p13.2 |
| TAS2R4 | detection of chemical stimulus involved in sensory perception of taste; sensory perception of taste; response to stimulus; signal transduction | 7q31.3-q32 |
| TAS2R43 | G-protein coupled receptor signaling pathway; detection of chemical stimulus involved in sensory perception of bitter taste; response to stimulus; sensory perception of taste | 12p13.2 |
| TAS2R46 | response to stimulus; sensory perception of taste | 12p13.2 |
| TAS2R5 | detection of chemical stimulus involved in sensory perception of taste; sensory perception of taste; response to stimulus; signal transduction; chemosensory behavior | 7q31.3-q32 |
| TAS2R60 | sensory perception of bitter taste; response to stimulus; G-protein coupled receptor signaling pathway | 7q35 |
| TAS2R62P | - | 7q35 |
| TAS2R63P | - | 12p13.2 |
| TAS2R8 | response to stimulus; detection of chemical stimulus involved in sensory perception of taste | 12p13 |
| TAS2R9 | response to stimulus; detection of chemical stimulus involved in sensory perception of taste | 12p13 |
| TASP1 | asparagine catabolic process via L-aspartate; protein maturation; positive regulation of transcription, DNA-dependent; proteolysis | 20p12.1 |
| TAT | biosynthetic process; response to glucocorticoid stimulus; response to mercury ion; small molecule metabolic process; cellular nitrogen compound metabolic process; response to organic cyclic compound; response to oxidative stress; tyrosine catabolic process; L-phenylalanine catabolic process; glutamate metabolic process; 2-oxoglutarate metabolic process | 16q22.1 |
| TATDN1 | - | 8q24.13 |
| TATDN1P1 | - | 10q21.3 |
| TATDN2 | endoplasmic reticulum unfolded protein response; activation of signaling protein activity involved in unfolded protein response | 3p25.3 |
| TATDN2P3 | - | - |
| TATDN3 | - | 1q32.3 |
| TAX1BP1 | negative regulation of NF-kappaB transcription factor activity; innate immune response; negative regulation of type I interferon production; anti-apoptosis; apoptotic process | 7p15 |
| TAX1BP3 | negative regulation of cell proliferation; Rho protein signal transduction; negative regulation of Wnt receptor signaling pathway; negative regulation of protein localization at cell surface; activation of Cdc42 GTPase activity | 17p13 |
| TAZ | cardiac muscle contraction; hemopoiesis; muscle contraction; heart development; skeletal muscle tissue development; metabolic process; cardiac muscle tissue development; mitochondrial ATP synthesis coupled electron transport; cardiolipin biosynthetic process; mitochondrial respiratory chain complex I assembly; cristae formation | Xq28 |
| TBATA | - | 10q22.1 |
| TBC1D1 | regulation of protein localization | 4p14 |
| TBC1D10A | - | 22q12.2 |
| TBC1D10B | positive regulation of Rab GTPase activity; regulation of Rab GTPase activity | 16p11.2 |
| TBC1D10C | - | 11q13.2 |
| TBC1D12 | - | 10q23.33 |
| TBC1D13 | - | 9q34.11 |
| TBC1D14 | - | 4p16.1 |
| TBC1D15 | regulation of Rab GTPase activity; positive regulation of Rab GTPase activity | 12q21.1 |
| TBC1D16 | - | 17q25.3 |
| TBC1D17 | - | 19q13.33 |
| TBC1D19 | - | 4p15.2 |
| TBC1D2 | positive regulation of Rab GTPase activity | 9q22.33 |
| TBC1D20 | interspecies interaction between organisms | 20p13 |
| TBC1D21 | - | 15q24.1 |
| TBC1D22A | - | 22q13.3 |
| TBC1D22B | - | 6p21.2 |
| TBC1D23 | - | 3q12.2 |
| TBC1D24 | neuron projection development | 16p13.3 |
| TBC1D25 | - | Xp11.23 |
| TBC1D26 | - | 17p11.2 |
| TBC1D27 | - | 17p11.2 |
| TBC1D29 | - | 17q11.2 |
| TBC1D2B | - | 15q24.3-q25.1 |
| TBC1D3 | - | 17q12 |
| TBC1D30 | - | 12q14.3 |
| TBC1D31 | - | 8q24.13 |
| TBC1D32 | - | 6q22.31 |
| TBC1D3F | - | 17q12 |
| TBC1D3P2 | - | 17q23.2 |
| TBC1D3P5 | - | 17q11.1 |
| TBC1D4 | - | 13q22.2 |
| TBC1D4-AS1 | - | - |
| TBC1D5 | - | 3p24.3 |
| TBC1D7 | positive regulation of protein ubiquitination | 6p24.1 |
| TBC1D8 | blood circulation; positive regulation of cell proliferation | 2q11.2 |
| TBC1D8B | - | Xq22.3 |
| TBC1D9 | - | 4q31.21 |
| TBC1D9B | - | 5q35.3 |
| TBCA | protein folding; 'de novo' posttranslational protein folding; cellular protein metabolic process; post-chaperonin tubulin folding pathway; tubulin complex assembly | 5q14.1 |
| TBCAP1 | - | Xp21 |
| TBCAP3 | - | 4q23 |
| TBCB | cellular protein metabolic process; multicellular organismal development; nervous system development; cell differentiation; 'de novo' posttranslational protein folding | 19q13.11-q13.12 |
| TBCC | GTP catabolic process; protein folding; post-chaperonin tubulin folding pathway; cellular protein metabolic process; 'de novo' posttranslational protein folding | 6p21.1 |
| TBCCD1 | cell morphogenesis; maintenance of Golgi location; maintenance of centrosome location; regulation of cell migration; regulation of cell shape | 3q27.3 |
| TBCD | tight junction assembly; 'de novo' posttranslational protein folding; cellular protein metabolic process; positive regulation of GTPase activity; adherens junction assembly; negative regulation of microtubule polymerization; negative regulation of cell-substrate adhesion; post-chaperonin tubulin folding pathway; protein folding | 17q25.3 |
| TBCE | microtubule cytoskeleton organization; protein folding; post-chaperonin tubulin folding pathway; adult locomotory behavior; post-embryonic development; muscle atrophy; cellular protein metabolic process; developmental growth; peripheral nervous system neuron axonogenesis; 'de novo' posttranslational protein folding | 1q42.3 |
| TBCEL | - | 11q23.3 |
| TBCK | protein phosphorylation | 4q24 |
| TBK1 | defense response to Gram-positive bacterium; positive regulation of interferon-beta biosynthetic process; response to virus; Toll signaling pathway; positive regulation of transcription from RNA polymerase II promoter; type I interferon production; positive regulation of interferon-alpha production; positive regulation of interferon-beta production; I-kappaB kinase/NF-kappaB cascade; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; inflammatory response; protein phosphorylation; MyD88-independent toll-like receptor signaling pathway; TRIF-dependent toll-like receptor signaling pathway; activation of innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; interspecies interaction between organisms; innate immune response; negative regulation of gene expression; negative regulation of type I interferon production | 12q14.1 |
| TBKBP1 | innate immune response | 17q21.32 |
| TBL1X | proteasomal ubiquitin-dependent protein catabolic process; sensory perception of sound; proteolysis; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; cellular lipid metabolic process; canonical Wnt receptor signaling pathway; positive regulation of transcription, DNA-dependent; small molecule metabolic process | Xp22.3 |
| TBL1XR1 | small molecule metabolic process; proteasomal ubiquitin-dependent protein catabolic process; cellular lipid metabolic process; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; canonical Wnt receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; chromatin modification | 3q26.32 |
| TBL1XR1-AS1 | - | - |
| TBL1Y | negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; fat cell differentiation; response to estrogen stimulus; proteasomal ubiquitin-dependent protein catabolic process | Yp11.2 |
| TBL1YP1 | - | Yq11.223 |
| TBL2 | - | 7q11.23 |
| TBL3 | G-protein signaling, coupled to cGMP nucleotide second messenger; rRNA processing | 16p13.3 |
| TBP | positive regulation of transcription, DNA-dependent; interspecies interaction between organisms; viral reproduction; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; transcription from RNA polymerase III promoter; spermatogenesis; cell death; gene expression | 6q27 |
| TBPL1 | spermatogenesis; spermatid nucleus differentiation; acrosome assembly; dTTP biosynthetic process; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter | 6q22.1-q22.3 |
| TBPL2 | transcription initiation from RNA polymerase II promoter; multicellular organismal development; negative regulation of transcription, DNA-dependent | 14q22.3 |
| TBR1 | regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; hindbrain development; brain development; axon guidance | 2q24 |
| TBRG1 | DNA replication; cell cycle; cell cycle arrest; protein stabilization; negative regulation of cell proliferation; nucleolus to nucleoplasm transport | 11q24.2 |
| TBRG4 | positive regulation of cell proliferation; cell cycle arrest; G1 phase of mitotic cell cycle; cellular respiration | 7p13 |
| TBX1 | outflow tract septum morphogenesis; heart morphogenesis; outflow tract morphogenesis; regulation of transcription from RNA polymerase II promoter; determination of left/right symmetry; positive regulation of cell proliferation; positive regulation of mesenchymal cell proliferation; angiogenesis; blood vessel development; cell fate specification; neural crest cell migration; positive regulation of protein phosphorylation; lymph vessel development; soft palate development; positive regulation of transcription from RNA polymerase II promoter; retinoic acid receptor signaling pathway; blood vessel morphogenesis; thymus development; muscle organ morphogenesis; embryonic cranial skeleton morphogenesis; embryonic viscerocranium morphogenesis; semicircular canal morphogenesis; artery morphogenesis; positive regulation of epithelial cell proliferation; parathyroid gland development; mesoderm development; pharyngeal system development; face morphogenesis; muscle tissue morphogenesis; coronary artery morphogenesis; enam | 22q11.21 |
| TBX10 | regulation of transcription from RNA polymerase II promoter; anatomical structure morphogenesis | 11q13.2 |
| TBX15 | embryonic cranial skeleton morphogenesis | 1p11.1 |
| TBX18 | negative regulation of canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation; negative regulation of transcription from RNA polymerase II promoter | 6q14-q15 |
| TBX19 | positive regulation of transcription from RNA polymerase II promoter; cell fate commitment; regulation of cell proliferation; pituitary gland development; anatomical structure morphogenesis; regulation of transcription from RNA polymerase II promoter | 1q24.2 |
| TBX2 | heart morphogenesis; mammary placode formation; developmental growth involved in morphogenesis; cardiac muscle tissue development; negative regulation of transcription, DNA-dependent; positive regulation of cell proliferation; cell aging; muscle cell fate determination; multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; palate development | 17q23.2 |
| TBX20 | negative regulation of SMAD protein complex assembly; lateral mesoderm formation; cardiac right ventricle morphogenesis; cardiac chamber formation; pulmonary valve formation; aortic valve morphogenesis; tricuspid valve development; pulmonary vein morphogenesis; outflow tract septum morphogenesis; heart looping; endocardial cushion formation; atrial septum morphogenesis; neuron migration; endoderm formation; cardiac muscle tissue morphogenesis; patterning of blood vessels; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; cardiac septum development; negative regulation of transcription, DNA-dependent; foramen ovale closure; embryonic heart tube development; muscle contraction; blood circulation; cell proliferation; visceral motor neuron differentiation; dorsal/ventral pattern formation | 7p14.3 |
| TBX21 | regulation of immune response; regulation of transcription, DNA-dependent; multicellular organismal development; response to virus; positive regulation of transcription, DNA-dependent; lymphocyte migration; positive regulation of isotype switching to IgG isotypes | 17q21.32 |
| TBX22 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; negative regulation of transcription, DNA-dependent | Xq21.1 |
| TBX3 | positive regulation of cell cycle; male genitalia development; female genitalia development; negative regulation of epithelial cell differentiation; mammary gland development; luteinizing hormone secretion; embryonic arm morphogenesis; forelimb morphogenesis; embryonic digit morphogenesis; negative regulation of myoblast differentiation; limbic system development; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; follicle-stimulating hormone secretion; mesoderm morphogenesis; palate development; ventricular septum morphogenesis; branching involved in mammary gland duct morphogenesis; mammary placode formation; cardiac muscle cell fate commitment; stem cell maintenance; positive regulation of stem cell proliferation; sinoatrial node cell development; skeletal system development; blood vessel development; in utero embryonic development; heart looping; outflow tract morphogenesis; atrioventricular bundle cell differentiation; regulation of transcription fro | 12q24.1 |
| TBX4 | angiogenesis; morphogenesis of an epithelium; regulation of transcription, DNA-dependent; multicellular organismal development; lung development; embryonic limb morphogenesis; limb morphogenesis; skeletal system morphogenesis | 17q21-q22 |
| TBX5 | bundle of His development; atrioventricular valve morphogenesis; ventricular septum development; endocardial cushion development; cardiac left ventricle formation; ventricular cardiac muscle tissue development; positive regulation of cardioblast differentiation; morphogenesis of an epithelium; positive regulation of transcription, DNA-dependent; forelimb morphogenesis; embryonic arm morphogenesis; negative regulation of cell migration; embryonic limb morphogenesis; cell migration involved in coronary vasculogenesis; cardiac muscle cell differentiation; atrial septum development; pericardium development; negative regulation of cardiac muscle cell proliferation; positive regulation of cardiac muscle cell proliferation; positive regulation of transcription from RNA polymerase II promoter; lung development; negative regulation of cell proliferation; induction of apoptosis; cell-cell signaling; pattern specification process; heart development; negative regulation of epithelial to mesenchymal transition | 12q24.1 |
| TBX5-AS1 | - | 12q24.21 |
| TBX6 | mesoderm formation; cell fate specification; multicellular organismal development; mesoderm development; anatomical structure morphogenesis; signal transduction involved in regulation of gene expression | 16p11.2 |
| TBXA2R | G-protein coupled receptor signaling pathway; blood coagulation; platelet activation | 19p13.3 |
| TBXAS1 | prostanoid metabolic process; prostaglandin biosynthetic process; xenobiotic metabolic process; small molecule metabolic process; fatty acid biosynthetic process; icosanoid metabolic process | 7q34-q35 |
| TC2N | - | 14q32.12 |
| TCAF1 | - | 7q35 |
| TCAF2 | - | 7q35 |
| TCAIM | - | 3p21.31 |
| TCAM1P | - | 17q23.3 |
| TCAP | skeletal muscle thin filament assembly; skeletal muscle myosin thick filament assembly; cardiac muscle contraction; muscle filament sliding; adult heart development; otic vesicle formation; response to stress; protein complex assembly; skeletal muscle contraction; somitogenesis; sarcomere organization; cardiac muscle fiber development; sarcomerogenesis; detection of mechanical stimulus; cardiac myofibril assembly; cardiac muscle tissue morphogenesis | 17q12 |
| TCEA1 | erythrocyte differentiation; positive regulation of viral transcription; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription elongation, DNA-dependent; viral reproduction; gene expression; transcription elongation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair | 8q11.2 |
| TCEA1P1 | - | 9q22.33 |
| TCEA1P2 | - | 3p22 |
| TCEA1P4 | - | 9p21.1 |
| TCEA2 | transcription, DNA-dependent; transcription elongation, DNA-dependent; regulation of transcription from RNA polymerase II promoter; regulation of transcription elongation, DNA-dependent | 20q13.33 |
| TCEA3 | regulation of transcription elongation, DNA-dependent; regulation of transcription from RNA polymerase II promoter | 1p36.12 |
| TCEAL1 | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | Xq22.1 |
| TCEAL2 | regulation of transcription, DNA-dependent | Xq22.1-q22.3 |
| TCEAL3 | regulation of transcription, DNA-dependent | Xq22.2 |
| TCEAL4 | regulation of transcription, DNA-dependent | Xq22.2 |
| TCEAL4P1 | - | - |
| TCEAL5 | regulation of transcription, DNA-dependent | Xq22.1 |
| TCEAL7 | negative regulation of NF-kappaB transcription factor activity; negative regulation of transcription, DNA-dependent | Xq22.1 |
| TCEAL8 | regulation of transcription, DNA-dependent | Xq22.1 |
| TCEANC | regulation of transcription from RNA polymerase II promoter; regulation of transcription elongation, DNA-dependent; transcription, DNA-dependent | Xp22.2 |
| TCEANC2 | transcription, DNA-dependent | 1p32.3 |
| TCEB1 | transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; ubiquitin-dependent protein catabolic process; regulation of transcription from RNA polymerase II promoter; gene expression; viral reproduction; interspecies interaction between organisms; positive regulation of viral transcription | 8q21.11 |
| TCEB1P2 | - | 15q15.1 |
| TCEB1P21 | - | - |
| TCEB1P3 | - | 10p14 |
| TCEB2 | positive regulation of viral transcription; viral reproduction; gene expression; protein complex assembly; transcription elongation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 16p12.3 |
| TCEB2P2 | - | 11q24.3 |
| TCEB2P3 | - | 2p16.3 |
| TCEB3 | transcription elongation from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; positive regulation of viral transcription; viral reproduction; gene expression; transcription from RNA polymerase II promoter | 1p36.1 |
| TCEB3-AS1 | - | - |
| TCEB3B | transcription from RNA polymerase II promoter; regulation of transcription elongation, DNA-dependent | 18q21.1 |
| TCERG1 | negative regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 5q31 |
| TCERG1L | - | 10q26.3 |
| TCF12 | immune response; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; multicellular organismal development; nervous system development; muscle organ development; cell differentiation | 15q21 |
| TCF15 | death; neuromuscular process controlling posture; skeletal system morphogenesis; muscle organ morphogenesis; paraxial mesoderm development; skin development; ear development; eating behavior; tail morphogenesis; mesoderm development; multicellular organismal development; regulation of transcription from RNA polymerase II promoter; respiratory system process; somitogenesis | 20p13 |
| TCF19 | regulation of transcription from RNA polymerase II promoter; cell proliferation | 6p21.3 |
| TCF20 | regulation of transcription, DNA-dependent | 22q13.3|22q13.3 |
| TCF21 | metanephric glomerular capillary formation; branchiomeric skeletal muscle development; palate development; Sertoli cell differentiation; gland development; reproductive structure development; embryonic digestive tract morphogenesis; spleen development; lung alveolus development; positive regulation of transcription from RNA polymerase II promoter; glomerulus development; epithelial cell differentiation; lung morphogenesis; sex differentiation; sex determination; regulation of transcription, DNA-dependent; vasculature development; kidney development; morphogenesis of a branching structure; branching involved in ureteric bud morphogenesis; ureteric bud development; negative regulation of transcription from RNA polymerase II promoter; lung vasculature development; bronchiole development; diaphragm development; respiratory system development; negative regulation of androgen receptor signaling pathway; metanephric mesenchymal cell differentiation | 6q23-q24 |
| TCF23 | cell differentiation; muscle organ development; multicellular organismal development | 2p23.3 |
| TCF24 | regulation of transcription, DNA-dependent | 8q13.1 |
| TCF25 | negative regulation of transcription from RNA polymerase II promoter; heart development | 16q24.3 |
| TCF3 | positive regulation of muscle cell differentiation; cell development; positive regulation of transcription, DNA-dependent; positive regulation of cell cycle; positive regulation of neuron differentiation; histone H4 acetylation; histone H3 acetylation; muscle cell differentiation; response to drug; immunoglobulin V(D)J recombination; T cell differentiation in thymus; response to lipopolysaccharide; positive regulation of B cell proliferation; B cell differentiation; nervous system development; positive regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent; B cell lineage commitment; natural killer cell differentiation; G1 phase of mitotic cell cycle; regulation of transcription, DNA-dependent; positive regulation of sequence-specific DNA binding transcription factor activity; protein stabilization; Peyer's patch development | 19p13.3 |
| TCF4 | nervous system development; cell differentiation; positive regulation of neuron differentiation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; protein-DNA complex assembly; transcription initiation, DNA-dependent; transcription initiation from RNA polymerase II promoter | 18q21.1 |
| TCF7 | canonical Wnt receptor signaling pathway; cellular response to interleukin-4; generation of neurons; neurogenesis; Wnt receptor signaling pathway; brain development; immune response; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 5q31.1 |
| TCF7L1 | generation of neurons; Wnt receptor signaling pathway; stem cell differentiation; axial mesoderm morphogenesis; positive regulation of transcription from RNA polymerase II promoter during mitosis; negative regulation of transcription, DNA-dependent; skin development; somatic stem cell maintenance; regulation of Wnt receptor signaling pathway; neurogenesis; anterior/posterior axis specification, embryo; brain development; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; chromatin organization; canonical Wnt receptor signaling pathway; regulation of stem cell maintenance | 2p11.2 |
| TCF7L2 | canonical Wnt receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; blood vessel development; regulation of transcription from RNA polymerase II promoter; anti-apoptosis; cell cycle arrest; brain development; cell proliferation; response to glucose stimulus; positive regulation of heparan sulfate proteoglycan biosynthetic process; neurogenesis; negative regulation of canonical Wnt receptor signaling pathway; positive regulation of protein kinase B signaling cascade; generation of neurons; regulation of smooth muscle cell proliferation; myoblast cell fate commitment; positive regulation of protein export from nucleus; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; fat cell differentiation; canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition; maintenance of DNA repeat elements; negative regulation of sequence-specific DNA binding tra | 10q25.3 |
| TCFL5 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; regulation of cell differentiation; regulation of cell proliferation; spermatogenesis; multicellular organismal development | 20q13.3-qter |
| TCHH | keratinization | 1q21.3 |
| TCHHL1 | - | 1q21.3 |
| TCHP | apoptotic process; negative regulation of cell growth | 12q24.11 |
| TCIRG1 | ion transport; transmembrane transport; transferrin transport; proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; positive regulation of cell proliferation; cellular defense response; cellular iron ion homeostasis | 11q13.2 |
| TCL1A | multicellular organismal development | 14q32.1 |
| TCL1B | - | 14q32.1 |
| TCL6 | - | 14q32.1 |
| TCN1 | cobalamin transport; cobalamin metabolic process; cobalt ion transport; ion transport | 11q11-q12 |
| TCN2 | cobalamin transport; ion transport; cobalt ion transport; cobalamin metabolic process | 22q12.2 |
| TCOF1 | transport; skeletal system development | 5q32 |
| TCP1 | tubulin complex assembly; protein folding; cellular protein metabolic process; 'de novo' posttranslational protein folding | 6q25.3-q26 |
| TCP10 | - | 6q27 |
| TCP10L | - | 21q22.11 |
| TCP10L2 | - | 6q27 |
| TCP11 | multicellular organismal development; spermatogenesis; cell differentiation | 6p21.31 |
| TCP11L1 | - | 11p13 |
| TCP11L2 | - | 12q23.3 |
| TCP1P1 | - | 7p14.1 |
| TCP1P3 | - | 12p12.2 |
| TCTA | - | 3p21 |
| TCTE1 | - | 6p21.1 |
| TCTE3 | transport | 6q27 |
| TCTEX1D1 | - | 1p31.3 |
| TCTEX1D2 | - | 3q29 |
| TCTN1 | cell projection organization; multicellular organismal development; cilium morphogenesis | 12q24.11 |
| TCTN2 | cilium assembly; smoothened signaling pathway; cell projection organization; cilium morphogenesis | 12q24.31 |
| TCTN3 | apoptotic process; cilium morphogenesis; cell projection organization | 10q24.1 |
| TDG | depyrimidination; metabolic process; mismatch repair; base-excision repair, AP site formation; base-excision repair; DNA repair | 12q24.1 |
| TDGF1 | heart development; activation of MAPK activity; vasculogenesis; in utero embryonic development; morphogenesis of a branching structure; positive regulation of cell-matrix adhesion; cell migration involved in sprouting angiogenesis; epidermal growth factor receptor signaling pathway; gastrulation; cellular response to epidermal growth factor stimulus; cellular response to tumor necrosis factor; cellular response to interleukin-6; cellular response to interferon-gamma; canonical Wnt receptor signaling pathway; positive regulation of endothelial cell migration; peptidyl-serine phosphorylation; cell differentiation; positive regulation of cell migration; BMP signaling pathway; negative regulation of transforming growth factor beta receptor signaling pathway; regulation of signal transduction; embryo development; anterior/posterior axis specification, embryo; positive regulation of cell proliferation; mammary gland development; cellular response to hepatocyte growth factor stimulus; negative regulation of apoptoti | 3p21.31 |
| TDGF1P1 | - | - |
| TDGF1P4 | - | 6p25 |
| TDGF1P6 | - | 3q22 |
| TDH | cellular metabolic process | 8p23.1 |
| TDO2 | small molecule metabolic process; cellular nitrogen compound metabolic process; tryptophan catabolic process to acetyl-CoA; tryptophan catabolic process to kynurenine; tryptophan catabolic process | 4q31-q32 |
| TDP1 | DNA repair; single strand break repair; cell death; double-strand break repair | 14q32.11 |
| TDP2 | cell surface receptor signaling pathway; double-strand break repair | 6p22.3-p22.1 |
| TDPX2 | - | 9p22 |
| TDRD1 | meiosis; multicellular organismal development; germ cell development; DNA methylation involved in gamete generation; piRNA metabolic process; gene silencing by RNA; cell differentiation; spermatogenesis | 10q25.3 |
| TDRD10 | - | 1q21.3 |
| TDRD12 | - | 19q13.11 |
| TDRD15 | - | 2p24.1 |
| TDRD3 | chromatin modification | 13q21.2 |
| TDRD5 | DNA methylation involved in gamete generation; P granule organization; cell differentiation; spermatid development; spermatogenesis; multicellular organismal development | 1q25.2 |
| TDRD6 | multicellular organismal development; cell differentiation; spermatogenesis; germ cell development | 6p12.3 |
| TDRD7 | posttranscriptional regulation of gene expression; lens fiber cell differentiation; lens morphogenesis in camera-type eye; spermatogenesis; germ cell development | 9q22.33 |
| TDRD9 | male meiosis; DNA methylation involved in gamete generation; piRNA metabolic process; gene silencing by RNA; cell differentiation; fertilization; spermatogenesis; multicellular organismal development | 14q32.33 |
| TDRG1 | - | 6p21.2 |
| TDRKH | - | 1q21 |
| TDRP | - | 8p23.3 |
| TEAD1 | hippo signaling cascade; regulation of transcription, DNA-dependent | 11p15.2 |
| TEAD2 | negative regulation of cell death; neural tube closure; lateral mesoderm development; paraxial mesoderm development; positive regulation of transcription from RNA polymerase II promoter; hippo signaling cascade; notochord development; regulation of transcription, DNA-dependent; embryonic heart tube morphogenesis; vasculogenesis | 19q13.3 |
| TEAD3 | regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; female pregnancy; hippo signaling cascade; positive regulation of transcription from RNA polymerase II promoter | 6p21.2 |
| TEAD4 | skeletal system development; in utero embryonic development; positive regulation of transcription from RNA polymerase II promoter; hippo signaling cascade; embryo implantation; muscle organ development; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; trophectodermal cell fate commitment; blastocyst formation; cell fate specification | 12p13.3-p13.2 |
| TEC | protein phosphorylation; integrin-mediated signaling pathway; intracellular protein kinase cascade; regulation of platelet activation; B cell receptor signaling pathway | 4p12 |
| TECPR1 | - | 7q21.3 |
| TECPR2 | - | 14q32.31 |
| TECR | triglyceride biosynthetic process; fatty acid elongation; long-chain fatty-acyl-CoA biosynthetic process; very long-chain fatty acid biosynthetic process; cellular lipid metabolic process; small molecule metabolic process | 19p13.12 |
| TECRP2 | - | 4q28.1 |
| TECTA | cell-matrix adhesion; sensory perception of sound | 11q22-q24 |
| TECTB | - | 10q25-q26 |
| TEF | positive regulation of transcription from RNA polymerase II promoter; rhythmic process; regulation of transcription from RNA polymerase II promoter | 22q13.2 |
| TEFM | oxidative phosphorylation; mitochondrial DNA replication; DNA metabolic process; regulation of transcription, DNA-dependent; transcription from mitochondrial promoter | - |
| TEK | substrate adhesion-dependent cell spreading; angiogenesis; regulation of establishment or maintenance of cell polarity; peptidyl-tyrosine phosphorylation; negative regulation of angiogenesis; positive regulation of phosphatidylinositol 3-kinase cascade; positive regulation of intracellular protein kinase cascade; positive regulation of endothelial cell migration; blood coagulation; heart development; cell-cell signaling; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; protein phosphorylation; sprouting angiogenesis; positive regulation of endothelial cell proliferation; endothelial cell proliferation; positive regulation of protein phosphorylation; regulation of vascular permeability; negative regulation of endothelial cell apoptosis; regulation of endothelial cell apoptosis; positive regulation of actin cytoskeleton reorganization; positive regulation of ERK1 and ERK2 cascade; heart trabecula formation; definitive hemopoiesis; positive regulation of protein kinase B sig | 9p21 |
| TEKT1 | microtubule cytoskeleton organization | 17p13.1 |
| TEKT2 | sperm motility; cell projection organization; ciliary or flagellar motility; microtubule cytoskeleton organization | 1p34.3 |
| TEKT3 | microtubule cytoskeleton organization | 17p12 |
| TEKT4P2 | - | 21p11.2 |
| TEKT5 | microtubule cytoskeleton organization | 16p13.13 |
| TELO2 | - | 16p13.3 |
| TEN1 | - | 17q25.1 |
| TENM1 | - | Xq25 |
| TENM2 | - | 5q34 |
| TENM3 | - | 4q35.1 |
| TENM4 | - | 11q14.1 |
| TEP1 | telomere maintenance via recombination | 14q11.2 |
| TEPP | - | 16q21 |
| TERF1 | mitotic cell cycle spindle assembly checkpoint; telomere maintenance; mitosis; negative regulation of DNA replication; telomere maintenance via telomere shortening; positive regulation of microtubule polymerization; negative regulation of telomere maintenance via telomerase; negative regulation of telomere maintenance via semi-conservative replication; response to drug; positive regulation of mitosis; positive regulation of mitotic cell cycle; protein homooligomerization; cell division; negative regulation of telomerase activity; cell cycle; telomere maintenance via telomerase; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; regulation of transcription, DNA-dependent; age-dependent telomere shortening; G2/M transition of mitotic cell cycle | 8q21.11 |
| TERF1P1 | - | 21q11.2 |
| TERF1P2 | - | 18p11.21 |
| TERF1P3 | - | 4q28.3 |
| TERF1P4 | - | Xq21.1 |
| TERF1P5 | - | 13q11 |
| TERF2 | age-dependent telomere shortening; telomere maintenance; in utero embryonic development; regulation of transcription, DNA-dependent; telomere maintenance via telomerase; cell cycle; telomere maintenance via telomere shortening; cellular senescence; protein localization to chromosome, telomeric region; negative regulation of telomere maintenance via semi-conservative replication; positive regulation of telomere maintenance; negative regulation of telomere maintenance; protection from non-homologous end joining at telomere; telomeric loop formation; telomere capping | 16q22.1 |
| TERF2IP | positive regulation of NF-kappaB transcription factor activity; telomere maintenance; regulation of transcription, DNA-dependent; telomere maintenance via telomerase; regulation of double-strand break repair via homologous recombination; telomere maintenance via telomere lengthening; protection from non-homologous end joining at telomere; negative regulation of telomere maintenance; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of DNA recombination at telomere; protein localization to chromosome, telomeric region | 16q23.1 |
| TERF2IPP1 | - | 22q11.2 |
| TERT | telomere formation via telomerase; telomere maintenance; RNA-dependent DNA replication; anti-apoptosis; telomere maintenance via telomerase; DNA strand elongation; replicative senescence | 5p15.33 |
| TES | negative regulation of cell proliferation | 7q31.2 |
| TESC | positive regulation of gene expression; positive regulation of transcription, DNA-dependent; positive regulation of megakaryocyte differentiation; regulation of cell adhesion mediated by integrin; negative regulation of cell proliferation | 12q24.22 |
| TESK1 | cell junction assembly; spermatogenesis | 9p13 |
| TESK2 | protein phosphorylation; spermatogenesis; actin cytoskeleton organization; focal adhesion assembly | 1p32 |
| TESPA1 | - | 12q13.2 |
| TET1 | negative regulation of methylation-dependent chromatin silencing; DNA demethylation; stem cell maintenance; chromatin modification; regulation of transcription, DNA-dependent; inner cell mass cell differentiation | 10q21 |
| TET1P1 | - | 13q31.2 |
| TET2 | myeloid cell differentiation; cell cycle | 4q24 |
| TET3 | - | 2p13.1 |
| TEX10 | - | 9q31.1 |
| TEX101 | - | 19q13.31 |
| TEX11 | - | Xq13.1 |
| TEX12 | - | 11q22 |
| TEX13A | - | Xq22.3 |
| TEX13B | - | Xq22.3 |
| TEX14 | - | 17q22 |
| TEX15 | homeostasis of number of cells within a tissue; protein localization to chromosome; regulation of protein localization; male genitalia development; regulation of double-strand break repair via homologous recombination; fertilization; synaptonemal complex assembly; male meiosis; spermatogenesis | 8p12 |
| TEX19 | - | 17q25.3 |
| TEX2 | sphingolipid metabolic process; signal transduction | 17q23.3 |
| TEX21P | - | 14q23.3 |
| TEX22 | - | 14q32.33 |
| TEX26-AS1 | - | - |
| TEX261 | positive regulation of apoptotic process | 2p13.3 |
| TEX264 | - | 3p21.31 |
| TEX28 | - | Xq28 |
| TEX28P1 | - | Xq28 |
| TEX29 | - | 13q34 |
| TEX30 | - | 13q33.1 |
| TEX33 | - | 22q12.3 |
| TEX35 | - | 1q25.2 |
| TEX36 | - | 10q26.13 |
| TEX37 | - | 2p11.2 |
| TEX38 | - | 1p33 |
| TEX40 | - | 11q13.1 |
| TEX41 | - | 2q22.3 |
| TEX9 | - | 15q21.3 |
| TF | blood coagulation; platelet degranulation; ion transport; iron ion transport; cellular iron ion homeostasis; transmembrane transport; transferrin transport; platelet activation | 3q22.1 |
| TFAM | regulation of transcription from RNA polymerase I promoter; transcription from mitochondrial promoter; transcription initiation from mitochondrial promoter; gene expression; mitochondrial respiratory chain complex assembly; positive regulation of transcription, DNA-dependent; DNA-dependent DNA replication | 10q21 |
| TFAP2A | inner ear morphogenesis; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; regulation of cell differentiation; positive regulation of neuron apoptosis; negative regulation of apoptotic process; trigeminal nerve development; embryonic cranial skeleton morphogenesis; palate development; bone morphogenesis; eyelid development in camera-type eye; positive regulation of tooth mineralization; cellular response to iron ion; negative regulation of reactive oxygen species metabolic process; positive regulation of bone mineralization; negative regulation of transcription from RNA polymerase II promoter; kidney development; optic vesicle morphogenesis; optic cup structural organization; transcription from RNA polymerase II promoter; sensory perception of sound; positive regulation of gene expression; retina layer formation; negative regulation of transcription by competitive promoter binding; neg | 6p24 |
| TFAP2A-AS1 | - | 6p24.3 |
| TFAP2B | retina layer formation; negative regulation of cell proliferation; positive regulation of cell proliferation; sensory organ development; nervous system development; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; glucose metabolic process; renal water homeostasis; kidney development; negative regulation of transcription from RNA polymerase II promoter; skin development; positive regulation of neuron apoptosis; calcium ion homeostasis; fat cell differentiation; regulation of cell differentiation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sympathetic nervous system development; regulation of insulin secretion; phosphate ion homeostasis; regulation of BMP signaling pathway; potassium ion homeostasis; sodium ion homeostasis; distal tubule development; magnesium ion homeostasis; ductus arteriosus closure; metanephric nephron development; co | 6p12 |
| TFAP2C | forebrain neuron fate commitment; skin development; somatic stem cell maintenance; germ-line stem cell maintenance; cerebral cortex development; positive regulation of transcription from RNA polymerase II promoter; male gonad development; cell-cell signaling; regulation of transcription from RNA polymerase II promoter; keratinocyte development; hair follicle development; negative regulation of transcription from RNA polymerase II promoter; trophectodermal cell differentiation; regulation of epidermis development; sebaceous gland development; epithelial cell proliferation involved in mammary gland duct elongation; dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis | 20q13.2 |
| TFAP2D | positive regulation of transcription, DNA-dependent | 6p12.1 |
| TFAP2E | positive regulation of transcription from RNA polymerase II promoter | 1p34.3 |
| TFAP4 | negative regulation of DNA binding; negative regulation of cyclin-dependent protein kinase activity; cellular response to dexamethasone stimulus; negative regulation of cell cycle arrest; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of cell proliferation; regulation of S phase of mitotic cell cycle; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; protein complex assembly; negative regulation by host of viral transcription; positive regulation by host of viral transcription; negative regulation of apoptotic process; positive regulation of apoptotic process | 16p13 |
| TFB1M | regulation of transcription, DNA-dependent | 6q25.1-q25.3 |
| TFB2M | gene expression; transcription initiation from mitochondrial promoter; transcription from mitochondrial promoter; positive regulation of transcription, DNA-dependent | 1q44 |
| TFCP2 | regulation of transcription from RNA polymerase II promoter | 12q13 |
| TFCP2L1 | epithelial cell maturation; steroid biosynthetic process; regulation of transcription from RNA polymerase II promoter; cell morphogenesis; cytoplasm organization; negative regulation of transcription from RNA polymerase II promoter; salivary gland development; female pregnancy; determination of adult lifespan; positive regulation of growth | 2q14 |
| TFDP1 | G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; mitotic cell cycle; regulation of transcription from RNA polymerase II promoter; cell proliferation | 13q34 |
| TFDP2 | G1 phase of mitotic cell cycle; mitotic cell cycle; regulation of transcription, DNA-dependent; heart development | 3q23 |
| TFDP3 | G1/S transition of mitotic cell cycle; response to DNA damage stimulus | Xq26.2 |
| TFE3 | positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; humoral immune response; regulation of osteoclast differentiation | Xp11.22 |
| TFEB | humoral immune response; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; embryonic placenta development | 6p21 |
| TFEC | cellular response to heat; regulation of transcription, DNA-dependent | 7q31.2 |
| TFF1 | carbohydrate metabolic process; response to stress; digestion; response to iron ion; maintenance of gastrointestinal epithelium; response to estradiol stimulus; response to peptide hormone stimulus | 21q22.3 |
| TFF2 | digestion | 21q22.3 |
| TFF3 | defense response; digestion | 21q22.3 |
| TFG | positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction | 3q12.2 |
| TFIP11 | biomineral tissue development; regulation of transcription, DNA-dependent; RNA splicing; RNA processing; nuclear mRNA splicing, via spliceosome | 22q12.1 |
| TFP1 | - | 3q22.1 |
| TFPI | blood coagulation; blood coagulation, extrinsic pathway; negative regulation of endopeptidase activity | 2q32 |
| TFPI2 | blood coagulation | 7q22 |
| TFPT | DNA recombination; induction of apoptosis; apoptotic process; regulation of transcription, DNA-dependent; DNA repair | 19q13 |
| TFR2 | iron ion transport; proteolysis; cellular iron ion homeostasis | 7q22 |
| TFRC | response to copper ion; response to inorganic substance; response to iron ion; response to manganese ion; osteoclast differentiation; response to retinoic acid; transferrin transport; interspecies interaction between organisms; positive regulation of bone resorption; transmembrane transport; response to organic substance; response to nutrient; aging; acute-phase response; endocytosis; cellular iron ion homeostasis; proteolysis; response to hypoxia | 3q29 |
| TG | hormone biosynthetic process; thyroid hormone generation; signal transduction; synapse assembly; response to pH; iodide transport; thyroid gland development; regulation of myelination; response to lipopolysaccharide; transcytosis | 8q24 |
| TGDS | cellular metabolic process; nucleotide-sugar metabolic process | 13q32.1 |
| TGFA | negative regulation of cellular process; positive regulation of cell division; MAPK cascade; activation of MAPK activity; angiogenesis; positive regulation of protein phosphorylation; anti-apoptosis; epidermal growth factor receptor signaling pathway; cell proliferation; wound healing; negative regulation of neuron apoptosis; neuroprotection; positive regulation of epidermal growth factor-activated receptor activity; positive regulation of mitosis; mammary gland alveolus development; positive regulation of epithelial cell proliferation; cytosolic calcium ion homeostasis; response to drug | 2p13 |
| TGFB1 | positive regulation of transcription, DNA-dependent; negative regulation of mitotic cell cycle; positive regulation of transcription from RNA polymerase II promoter; active induction of host immune response by virus; positive regulation of isotype switching to IgA isotypes; lymph node development; digestive tract development; negative regulation of skeletal muscle tissue development; inner ear development; positive regulation of epithelial cell proliferation; negative regulation of epithelial cell proliferation; T cell homeostasis; positive regulation of protein secretion; negative regulation of transcription, DNA-dependent; negative regulation of cell cycle; negative regulation of myoblast differentiation; negative regulation of fat cell differentiation; cell-cell junction organization; regulatory T cell differentiation; ossification involved in bone remodeling; positive regulation of phosphatidylinositol 3-kinase activity; negative regulation of blood vessel endothelial cell migration; positive regulation o | 19q13.1 |
| TGFB1I1 | positive regulation of transforming growth factor beta receptor signaling pathway; ubiquitin-dependent SMAD protein catabolic process; transcription from RNA polymerase II promoter; cell adhesion; negative regulation of cell proliferation; positive regulation of epithelial to mesenchymal transition; Wnt receptor signaling pathway; cell differentiation; positive regulation of transcription, DNA-dependent; negative regulation of transforming growth factor beta receptor signaling pathway; androgen receptor signaling pathway | 16p11.2 |
| TGFB2 | positive regulation of heart contraction; somatic stem cell division; embryonic digestive tract development; positive regulation of cell cycle; generation of neurons; negative regulation of epithelial cell proliferation; positive regulation of protein secretion; negative regulation of immune response; positive regulation of immune response; positive regulation of cell division; positive regulation of catagen; positive regulation of cardioblast differentiation; cardiac muscle cell proliferation; cardiac epithelial to mesenchymal transition; pathway-restricted SMAD protein phosphorylation; neuron development; positive regulation of epithelial cell migration; SMAD protein import into nucleus; cell-cell signaling; salivary gland morphogenesis; heart development; blood coagulation; cell death; cell proliferation; positive regulation of cell proliferation; negative regulation of cell proliferation; glial cell migration; response to wounding; embryo development; cardioblast differentiation; positive regulation of in | 1q41 |
| TGFB2-AS1 | - | 1q41 |
| TGFB3 | cellular response to growth factor stimulus; detection of hypoxia; positive regulation of SMAD protein import into nucleus; frontal suture morphogenesis; face morphogenesis; palate development; negative regulation of cell proliferation; response to progesterone stimulus; mammary gland development; negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of bone mineralization; platelet activation; menstrual cycle phase; cell growth; negative regulation of macrophage cytokine production; positive regulation of pathway-restricted SMAD protein phosphorylation; positive regulation of epithelial to mesenchymal transition; organ morphogenesis; embryo development; positive regulation of filopodium assembly; negative regulation of DNA replication; blood coagulation; aging; female pregnancy; salivary gland morphogenesis; transforming growth factor beta receptor signaling pathway; induction of apoptosis; platelet degranulation; in utero embryonic development; response to hy | 14q24 |
| TGFBI | chondrocyte differentiation; angiogenesis; response to stimulus; extracellular matrix organization; cell proliferation; visual perception; negative regulation of cell adhesion | 5q31 |
| TGFBR1 | embryonic cranial skeleton morphogenesis; skeletal system morphogenesis; mesenchymal cell differentiation; artery morphogenesis; cell motility; positive regulation of cellular component movement; positive regulation of filopodium assembly; response to electrical stimulus; positive regulation of protein kinase B signaling cascade; parathyroid gland development; palate development; pharyngeal system development; pathway-restricted SMAD protein phosphorylation; positive regulation of SMAD protein import into nucleus; response to cholesterol; response to organic cyclic compound; aging; response to hypoxia; in utero embryonic development; kidney development; blastocyst development; epithelial to mesenchymal transition; regulation of transcription, DNA-dependent; neuron fate commitment; protein phosphorylation; induction of apoptosis; cell cycle arrest; signal transduction; transforming growth factor beta receptor signaling pathway; heart development; embryo implantation; digestive tract development; positive regul | 9q22 |
| TGFBR2 | positive regulation of T cell tolerance induction; blood vessel development; patterning of blood vessels; vasculogenesis; peptidyl-serine phosphorylation; positive regulation of mesenchymal cell proliferation; positive regulation of tolerance induction to self antigen; positive regulation of B cell tolerance induction; positive regulation of cell proliferation; heart development; brain development; transforming growth factor beta receptor signaling pathway; apoptotic process; protein phosphorylation; positive regulation of reactive oxygen species metabolic process; response to cholesterol; pathway-restricted SMAD protein phosphorylation; palate development; positive regulation of NK T cell differentiation; embryonic cranial skeleton morphogenesis; myeloid dendritic cell differentiation; response to drug; regulation of cell proliferation; regulation of growth; embryonic hemopoiesis; activation of protein kinase activity; peptidyl-threonine phosphorylation | 3p22 |
| TGFBR3 | cardiac epithelial to mesenchymal transition; heart trabecula formation; epithelial to mesenchymal transition; liver development; heart morphogenesis; immune response; transforming growth factor beta receptor signaling pathway; intracellular protein kinase cascade; cell growth; cell migration; BMP signaling pathway; response to follicle-stimulating hormone stimulus; response to prostaglandin E stimulus; response to luteinizing hormone stimulus; negative regulation of epithelial cell proliferation; negative regulation of cellular component movement; ventricular cardiac muscle tissue morphogenesis; palate development; cardiac muscle cell proliferation; definitive hemopoiesis; definitive erythrocyte differentiation; pathway-restricted SMAD protein phosphorylation | 1p33-p32 |
| TGFBR3L | - | 19p13.2 |
| TGFBRAP1 | intracellular protein transport; regulation of transcription, DNA-dependent; vesicle-mediated transport; transforming growth factor beta receptor signaling pathway; signal transduction | 2q12.1 |
| TGIF1 | negative regulation of retinoic acid receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; cellular response to growth factor stimulus; retina development in camera-type eye; positive regulation of fibroblast proliferation; positive regulation of neuron differentiation; response to drug; negative regulation of gene expression; dorsal/ventral pattern formation; negative regulation of cell proliferation; determination of left/right symmetry; multicellular organismal development; neural tube closure | 18p11.3 |
| TGIF1P1 | - | 19q13.32 |
| TGIF2 | regulation of transcription, DNA-dependent; retina development in camera-type eye; positive regulation of neuron differentiation | 20q11.23 |
| TGIF2LY | - | Yp11.2 |
| TGM1 | protein modification process; peptide cross-linking; keratinocyte differentiation; keratinization; cell envelope organization | 14q11.2 |
| TGM2 | branching involved in salivary gland morphogenesis; blood vessel remodeling; induction of apoptosis; peptide cross-linking; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; salivary gland cavitation; protein homooligomerization; positive regulation of inflammatory response; positive regulation of smooth muscle cell proliferation; apoptotic cell clearance; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of cell adhesion; isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine; metabolic process | 20q12 |
| TGM3 | protein tetramerization; cell envelope organization; keratinization; hair follicle morphogenesis; keratinocyte differentiation; peptide cross-linking; protein modification process; GTP catabolic process | 20q11.2 |
| TGM4 | peptide cross-linking; protein polyamination | 3p22-p21.33 |
| TGM5 | peptide cross-linking; protein modification process; epidermis development | 15q15.2 |
| TGM6 | cell death; peptide cross-linking | 20p13 |
| TGM7 | peptide cross-linking | 15q15.2 |
| TGOLN2 | - | 2p11.2 |
| TGS1 | RNA methylation; spliceosomal snRNP assembly; ribonucleoprotein complex biogenesis; ncRNA metabolic process; regulation of transcription, DNA-dependent; cellular lipid metabolic process; small molecule metabolic process; ribonucleoprotein complex import into nucleus; RNA capping; gene expression; RNA metabolic process | 8q11 |
| TH | response to electrical stimulus; small molecule metabolic process; response to ethanol; response to ether; response to pyrethroid; response to steroid hormone stimulus; embryonic camera-type eye morphogenesis; cognition; response to corticosterone stimulus; phytoalexin metabolic process; oxidation-reduction process; cellular response to manganese ion; cellular response to nicotine; cellular response to glucose stimulus; cellular response to growth factor stimulus; dopamine biosynthetic process from tyrosine; regulation of heart contraction; phthalate metabolic process; O-glycoside metabolic process; synaptic vesicle amine transport; response to activity; multicellular organismal aging; response to zinc ion; organ morphogenesis; anatomical structure morphogenesis; response to salt stress; response to herbicide; response to light stimulus; response to water deprivation; aromatic amino acid family metabolic process; response to peptide hormone stimulus; locomotory behavior; mating behavior; memory; learning; sen | 11p15.5 |
| THA1P | - | 17q25.3 |
| THADA | - | 2p21 |
| THAP1 | endothelial cell proliferation; transcription, DNA-dependent; regulation of transcription, DNA-dependent; cell cycle; regulation of mitotic cell cycle | 8p11.21 |
| THAP10 | - | 15q23 |
| THAP11 | regulation of transcription, DNA-dependent | 16q22.1 |
| THAP2 | - | 12q21.1 |
| THAP3 | - | 1p36.31 |
| THAP4 | - | 2q37.3 |
| THAP5 | negative regulation of cell cycle | 7q31.1 |
| THAP5P1 | - | 7q36.3 |
| THAP6 | - | 4q21.1 |
| THAP7 | negative regulation of transcription, DNA-dependent | 22q11.2 |
| THAP7-AS1 | - | 22q11.21 |
| THAP8 | - | 19q13.12 |
| THAP9 | - | 4q21.22 |
| THAP9-AS1 | - | - |
| THBD | embryo development; female pregnancy; negative regulation of fibrinolysis; response to cAMP; blood coagulation; leukocyte migration; response to lipopolysaccharide; negative regulation of blood coagulation; negative regulation of platelet activation; response to X-ray | 20p11.2 |
| THBS1 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of blood vessel endothelial cell migration; negative regulation of blood vessel endothelial cell migration; engulfment of apoptotic cell; positive regulation of translation; positive regulation of angiogenesis; positive regulation of chemotaxis; response to calcium ion; negative regulation of focal adhesion assembly; positive regulation of protein kinase B signaling cascade; negative regulation of fibrinolysis; positive regulation of reactive oxygen species metabolic process; negative regulation of dendritic cell antigen processing and presentation; blood coagulation; positive regulation of blood coagulation; platelet activation; peptide cross-linking; negative regulation of angiogenesis; cell migration; positive regulation of cell-substrate adhesion; positive regulation of fibroblast migration; positive regulation of macrophage chemotaxis; negative regulation of plasminogen activation; negative regu | 15q15 |
| THBS2 | cell adhesion; negative regulation of angiogenesis; positive regulation of synapse assembly | 6q27 |
| THBS3 | ossification involved in bone maturation; bone trabecula formation; growth plate cartilage development; cell adhesion; cell-matrix adhesion | 1q21 |
| THBS4 | positive regulation of neutrophil chemotaxis; positive regulation of cell division; positive regulation of endothelial cell proliferation; cell adhesion; nervous system development; negative regulation of angiogenesis; neuron projection morphogenesis; positive regulation of peptidyl-tyrosine phosphorylation; protein homooligomerization; myoblast migration; endothelial cell-cell adhesion | 5q13 |
| THEG | spermatogenesis; chaperone-mediated protein complex assembly; cell differentiation; multicellular organismal development | 19p13.3 |
| THEG5 | - | 19q12 |
| THEGL | - | - |
| THEM4 | phosphatidylinositol-mediated signaling; epidermal growth factor receptor signaling pathway; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway | 1q21 |
| THEM5 | - | 1q21.3 |
| THEM6 | - | 8q24.3 |
| THEMIS | positive T cell selection; multicellular organismal development; T cell receptor signaling pathway; negative T cell selection | 6q22.33 |
| THEMIS2 | - | 1p35.3 |
| THG1L | protein homotetramerization; tRNA processing; tRNA modification | 5q33.3 |
| THNSL1 | threonine biosynthetic process | 10p12.1 |
| THNSL2 | 2-oxobutyrate biosynthetic process; dephosphorylation; threonine biosynthetic process; serine family amino acid catabolic process | 2p11.2 |
| THOC1 | mRNA processing; mRNA export from nucleus; RNA processing; transport; apoptotic process; signal transduction; RNA splicing; regulation of transcription elongation, DNA-dependent; intronless viral mRNA export from host nucleus | 18p11.32 |
| THOC2 | intronless viral mRNA export from host nucleus; RNA splicing; transport; mRNA export from nucleus; mRNA processing | Xq25-q26.3 |
| THOC3 | RNA splicing; transport; mRNA processing; mRNA export from nucleus; intronless viral mRNA export from host nucleus | 5q35.2 |
| THOC5 | monocyte differentiation; primitive hemopoiesis; intronless viral mRNA export from host nucleus; negative regulation of macrophage differentiation; cell differentiation; RNA splicing; transport; mRNA processing; mRNA export from nucleus | 22q12.2 |
| THOC6 | mRNA processing; transport; intronless viral mRNA export from host nucleus; RNA splicing; mRNA export from nucleus | 16p13.3 |
| THOC7 | RNA splicing; transport; mRNA export from nucleus; mRNA processing; intronless viral mRNA export from host nucleus | 3p14.1 |
| THOP1 | proteolysis | 19p13.3 |
| THPO | multicellular organismal development; blood coagulation; cell proliferation; positive regulation of cell proliferation; myeloid cell differentiation; platelet activation; response to lipopolysaccharide | 3q27 |
| THRA | hormone-mediated signaling pathway; negative regulation of transcription initiation, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of RNA polymerase II transcriptional preinitiation complex assembly; gene expression; transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 17q11.2 |
| THRAP3 | transcription initiation from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; androgen receptor signaling pathway; intracellular steroid hormone receptor signaling pathway | 1p34.3 |
| THRAP3P1 | - | 3p24.1 |
| THRB | transcription, DNA-dependent; regulation of transcription, DNA-dependent; gene expression | 3p24.2 |
| THRB-AS1 | - | 3p24.2 |
| THRB-IT1 | - | - |
| THRIL | - | 12q24.31 |
| THRSP | regulation of lipid biosynthetic process; regulation of triglyceride biosynthetic process; lipid metabolic process; regulation of transcription, DNA-dependent | 11q14.1 |
| THSD1 | - | 13q14.3 |
| THSD4 | elastic fiber assembly | 15q23 |
| THSD7A | - | 7p21.3 |
| THSD7B | - | 2q22.1 |
| THTPA | small molecule metabolic process; generation of precursor metabolites and energy; vitamin metabolic process; water-soluble vitamin metabolic process; thiamine metabolic process; dephosphorylation; thiamine-containing compound metabolic process | 14q11.2 |
| THUMPD1 | - | 16p12.3 |
| THUMPD2 | - | 2p22.1|2p22-p21 |
| THUMPD3 | - | 3p25.3 |
| THUMPD3-AS1 | - | 3p25.3 |
| THY1 | retinal cone cell development; cytoskeleton organization; positive regulation of GTPase activity; focal adhesion assembly; negative regulation of axonogenesis; T cell receptor signaling pathway; negative regulation of T cell receptor signaling pathway; positive regulation of T cell activation; positive regulation of release of sequestered calcium ion into cytosol; positive regulation of Rho GTPase activity; negative regulation of cell migration; cell-cell adhesion; negative regulation of protein kinase activity; angiogenesis | 11q23.3 |
| THYN1 | - | 11q25 |
| TIA1 | apoptotic process; induction of apoptosis; negative regulation of translation; negative regulation of cytokine biosynthetic process; regulation of nuclear mRNA splicing, via spliceosome | 2p13 |
| TIAF1 | anti-apoptosis; I-kappaB kinase/NF-kappaB cascade; apoptotic process | 17q11.2 |
| TIAL1 | apoptotic process; regulation of transcription from RNA polymerase II promoter; defense response; induction of apoptosis | 10q |
| TIAM1 | regulation of Rho protein signal transduction; regulation of small GTPase mediated signal transduction; regulation of catalytic activity; positive regulation of axonogenesis; ephrin receptor signaling pathway; nerve growth factor receptor signaling pathway; apoptotic process; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals | 21q22.11 |
| TIAM2 | induction of apoptosis by extracellular signals; nerve growth factor receptor signaling pathway; cellular lipid metabolic process; regulation of Rho protein signal transduction; small molecule metabolic process; regulation of small GTPase mediated signal transduction; apoptotic process; small GTPase mediated signal transduction | 6q25.2 |
| TICAM1 | Toll signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; inflammatory response; signal transduction; I-kappaB kinase/NF-kappaB cascade; apoptotic process; MyD88-independent toll-like receptor signaling pathway; toll-like receptor 1 signaling pathway; positive regulation of tumor necrosis factor production; positive regulation of interleukin-6 production; response to lipopolysaccharide; MyD88-dependent toll-like receptor signaling pathway; macrophage activation involved in immune response; induction of apoptosis by extracellular signals; positive regulation of type I interferon production; positive regulation of protein binding; positive regulation of B cell proliferation; positive regulation of protein ubiquitination; lipopolysaccharide-mediated signaling pathway; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; defense response to virus; positive regulation of N | 19p13.3 |
| TICAM2 | toll-like receptor 1 signaling pathway; Toll signaling pathway; I-kappaB kinase/NF-kappaB cascade; toll-like receptor 2 signaling pathway; toll-like receptor 4 signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; signal transduction; inflammatory response; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway | 5q23.1 |
| TICRR | - | 15q26.1 |
| TIE1 | negative regulation of angiogenesis; negative regulation of cell migration; response to retinoic acid; plasma membrane fusion; mesoderm development; signal transduction; in utero embryonic development | 1p34-p33 |
| TIFA | I-kappaB kinase/NF-kappaB cascade | 4q25 |
| TIFAB | - | 5q31.1 |
| TIGAR | - | 12p13.3 |
| TIGD1 | regulation of transcription, DNA-dependent | 2q37.1 |
| TIGD2 | regulation of transcription, DNA-dependent | 4q22.1 |
| TIGD3 | regulation of transcription, DNA-dependent | 11q13.1 |
| TIGD4 | regulation of transcription, DNA-dependent | 4q31.3 |
| TIGD5 | regulation of transcription, DNA-dependent | 8q24.3 |
| TIGD6 | regulation of transcription, DNA-dependent | 5q32 |
| TIGD7 | regulation of transcription, DNA-dependent | 16p13.3 |
| TIGIT | negative regulation of interleukin-12 production; positive regulation of interleukin-10 production; negative regulation of T cell activation | 3q13.31 |
| TIMD4 | - | 5q33.3 |
| TIMELESS | morphogenesis of an epithelium; response to DNA damage stimulus; cell cycle; mitosis; multicellular organismal development; circadian rhythm; detection of abiotic stimulus; response to abiotic stimulus; cell division; negative regulation of transcription, DNA-dependent; regulation of cell proliferation; regulation of S phase | 12q13.3 |
| TIMM10 | protein import into mitochondrial inner membrane; chaperone-mediated protein transport; protein targeting to mitochondrion; sensory perception of sound | 11q12.1-q12.3 |
| TIMM10B | - | 11p15.4 |
| TIMM13 | protein import into mitochondrial inner membrane; sensory perception of sound; chaperone-mediated protein transport; protein targeting to mitochondrion | 19p13.3 |
| TIMM17A | protein targeting to mitochondrion; intracellular protein transport | 1q32.1 |
| TIMM17B | protein targeting to mitochondrion; intracellular protein transport | Xp11.23 |
| TIMM21 | protein transport | 18q22.3 |
| TIMM22 | protein import into mitochondrial inner membrane; protein transport | 17p13 |
| TIMM23 | intracellular protein transport; protein targeting to mitochondrion | 10q11.23 |
| TIMM44 | intracellular protein transport; protein targeting to mitochondrion | 19p13.3-p13.2 |
| TIMM50 | peptidyl-tyrosine dephosphorylation; protein dephosphorylation; release of cytochrome c from mitochondria; mitochondrial membrane organization; protein transport | 19q13.2 |
| TIMM8A | nervous system development; chaperone-mediated protein transport; protein import into mitochondrial inner membrane | Xq22.1 |
| TIMM8B | chaperone-mediated protein transport; protein import into mitochondrial inner membrane; sensory perception of sound; protein targeting to mitochondrion | 11q23.1-q23.2 |
| TIMM8BP1 | - | - |
| TIMM9 | protein import into mitochondrial inner membrane; chaperone-mediated protein transport; protein targeting to mitochondrion; sensory perception of sound | 14q21 |
| TIMMDC1 | - | 3q13.33 |
| TIMP1 | platelet activation; response to cytokine stimulus; wound healing; negative regulation of membrane protein ectodomain proteolysis; response to peptide hormone stimulus; erythrocyte maturation; positive regulation of cell proliferation; negative regulation of apoptotic process; blood coagulation; aging; platelet degranulation; cell activation | Xp11.3-p11.23 |
| TIMP2 | regulation of MAPK cascade; negative regulation of cell proliferation; regulation of cAMP metabolic process; regulation of neuron differentiation | 17q25 |
| TIMP3 | negative regulation of membrane protein ectodomain proteolysis; response to folic acid; response to stimulus; response to estrogen stimulus; response to amino acid stimulus; tissue regeneration; response to organic cyclic compound; response to hormone stimulus; response to mechanical stimulus; visual perception; aging; central nervous system development | 22q12.3 |
| TIMP4 | response to peptide hormone stimulus; response to drug; response to cytokine stimulus; response to lipopolysaccharide; central nervous system development; ovulation cycle | 3p25 |
| TINAG | proteolysis; immune response; cell adhesion; Malpighian tubule morphogenesis | 6p12.1 |
| TINAGL1 | proteolysis; immune response; endosome transport | 1p35.2 |
| TINCR | - | 19p13.3 |
| TINF2 | negative regulation of epithelial cell proliferation; protein localization to chromosome; negative regulation of telomere maintenance via telomerase; protein localization to chromosome, telomeric region; positive regulation of telomere maintenance; telomere assembly; negative regulation of protein ADP-ribosylation; telomere maintenance via telomere lengthening; negative regulation of telomere maintenance; telomere maintenance | 14q12 |
| TIPARP | vasculogenesis; kidney development; protein ADP-ribosylation; nitrogen compound metabolic process; androgen metabolic process; estrogen metabolic process; female gonad development; post-embryonic development; hemopoiesis; multicellular organismal metabolic process; platelet-derived growth factor receptor signaling pathway; skeletal system morphogenesis; smooth muscle tissue development; palate development; face morphogenesis | 3q25.31 |
| TIPARP-AS1 | - | 3q25.31 |
| TIPIN | cell cycle; DNA replication checkpoint; mitosis; replication fork protection; response to UV; positive regulation of cell proliferation; intra-S DNA damage checkpoint; regulation of S phase; regulation of DNA replication involved in S phase; cell division | 15q22.31 |
| TIPRL | DNA damage checkpoint; negative regulation of protein phosphatase type 2A activity | 1q23.2 |
| TIRAP | myeloid cell differentiation; inflammatory response; cellular response to bacterial lipopeptide; 3'-UTR-mediated mRNA stabilization; positive regulation of ERK1 and ERK2 cascade; positive regulation of NF-kappaB transcription factor activity; defense response to Gram-positive bacterium; toll-like receptor signaling pathway; positive regulation of JNK cascade; positive regulation of interleukin-6 biosynthetic process; MyD88-dependent toll-like receptor signaling pathway; cellular response to lipoteichoic acid; regulation of innate immune response; innate immune response; negative regulation of growth of symbiont in host; positive regulation of toll-like receptor 2 signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; TIRAP-dependent toll-like receptor 4 signaling pathway; positive regulation of toll-like receptor 3 signaling pathway; positive regulation of toll-like receptor 4 signaling pathway; toll-like receptor 4 signaling pathway; positive regulation of tumor necrosis factor producti | 11q24.2 |
| TJAP1 | - | 6p21.1 |
| TJP1 | cell-cell junction assembly; cellular component disassembly involved in apoptosis; apoptotic process; blastocyst formation | 15q13 |
| TJP2 | apoptotic process; cellular component disassembly involved in apoptosis | 9q13-q21 |
| TJP3 | - | 19p13.3 |
| TK1 | nucleobase-containing compound metabolic process; pyrimidine base metabolic process; DNA replication; nucleotide biosynthetic process; pyrimidine nucleoside salvage; small molecule metabolic process; protein homotetramerization; nucleobase-containing small molecule metabolic process | 17q23.2-q25.3 |
| TK2 | nucleobase-containing compound metabolic process; pyrimidine base metabolic process; DNA replication; pyrimidine nucleoside salvage; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 16q22-q23.1 |
| TKFC | glycerol metabolic process; innate immune response | 11q12.2 |
| TKT | ribose phosphate biosynthetic process; regulation of growth; small molecule metabolic process; energy reserve metabolic process; pentose-phosphate shunt, non-oxidative branch; carbohydrate metabolic process; xylulose biosynthetic process; pentose-phosphate shunt | 3p14.3 |
| TKTL1 | thiamine metabolic process; glucose catabolic process | Xq28 |
| TKTL2 | - | 4q32.2 |
| TLCD1 | - | 17q11.2 |
| TLCD2 | - | 17p13.3 |
| TLDC1 | - | 16q24.1 |
| TLDC2 | - | 20q11.23 |
| TLE1 | signal transduction; multicellular organismal development; organ morphogenesis; negative regulation of Wnt receptor signaling pathway; negative regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 9q21.32 |
| TLE2 | negative regulation of canonical Wnt receptor signaling pathway; negative regulation of transcription, DNA-dependent; Wnt receptor signaling pathway; organ morphogenesis; signal transduction | 19p13.3 |
| TLE3 | regulation of transcription, DNA-dependent; signal transduction; organ morphogenesis; Wnt receptor signaling pathway | 15q22 |
| TLE4 | negative regulation of transcription from RNA polymerase II promoter; Wnt receptor signaling pathway | 9q21.31 |
| TLE6 | regulation of transcription, DNA-dependent | 19p13.3 |
| TLK1 | regulation of chromatin assembly or disassembly; protein phosphorylation; intracellular protein transport; response to DNA damage stimulus; cell cycle; chromatin modification; intracellular signal transduction | 2q31.1 |
| TLK1P1 | - | 9q33.2 |
| TLK2 | intracellular signal transduction; chromatin modification; cell cycle; response to DNA damage stimulus; protein phosphorylation; regulation of chromatin assembly or disassembly | 17q23 |
| TLL1 | skeletal system development; proteolysis; cell differentiation; multicellular organismal development | 4q32-q33 |
| TLL2 | multicellular organismal development; proteolysis; cell differentiation | 10q23-q24 |
| TLN1 | blood coagulation; platelet degranulation; cellular component movement; muscle contraction; activation of signaling protein activity involved in unfolded protein response; cytoskeletal anchoring at plasma membrane; cell-cell junction assembly; cell-substrate junction assembly; cell adhesion; axon guidance; platelet activation; cortical actin cytoskeleton organization; endoplasmic reticulum unfolded protein response | 9p13 |
| TLN2 | cell adhesion; cell-cell junction assembly; cytoskeletal anchoring at plasma membrane | 15q15-q21 |
| TLR1 | detection of triacyl bacterial lipopeptide; positive regulation of tumor necrosis factor biosynthetic process; toll-like receptor signaling pathway; microglial cell activation involved in immune response; inflammatory response; immune response; signal transduction; response to bacterial lipoprotein; macrophage activation; innate immune response; positive regulation of interleukin-6 biosynthetic process; pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response; cellular response to triacyl bacterial lipopeptide; defense response to bacterium | 4p14 |
| TLR10 | innate immune response; signal transduction; immune response; inflammatory response; MyD88-dependent toll-like receptor signaling pathway | 4p14 |
| TLR12P | - | 1p35.1 |
| TLR2 | positive regulation of toll-like receptor signaling pathway; positive regulation of tumor necrosis factor production; positive regulation of interleukin-8 production; positive regulation of interleukin-6 production; positive regulation of interleukin-18 production; positive regulation of interleukin-12 production; positive regulation of interferon-beta production; positive regulation of chemokine production; lipopolysaccharide-mediated signaling pathway; positive regulation of Wnt receptor signaling pathway; Toll signaling pathway; I-kappaB phosphorylation; signal transduction; immune response; induction of apoptosis; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; pattern recognition receptor signaling pathway; toll-like receptor 2 signaling pathway; cellular response to triacyl bacterial lipopeptide; cellular response to diacyl bacterial lipopeptide; cellular response to lipoteichoic acid; cellular response to bacterial lipopeptide; positive regulation of nitric-o | 4q32 |
| TLR3 | positive regulation of toll-like receptor signaling pathway; positive regulation of tumor necrosis factor production; positive regulation of interleukin-8 production; positive regulation of interleukin-6 production; positive regulation of interleukin-12 production; positive regulation of interferon-beta production; positive regulation of chemokine production; positive regulation of type III interferon production; detection of virus; positive regulation of interferon-beta biosynthetic process; cellular response to interferon-beta; TRIF-dependent toll-like receptor signaling pathway; cellular response to drug; positive regulation of NF-kappaB import into nucleus; defense response to bacterium; positive regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of interferon-gamma biosynthetic process; positive regulation of chemokine biosynthetic process; innate immune response; positive regulation of interferon-alpha biosynthetic process; toll-like receptor 3 | 4q35 |
| TLR4 | positive regulation of interleukin-12 biosynthetic process; positive regulation of DNA binding; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of apoptotic process; defense response to bacterium; positive regulation of tumor necrosis factor biosynthetic process; positive regulation of NF-kappaB import into nucleus; macrophage activation; T-helper 1 type immune response; toll-like receptor 4 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; response to insulin stimulus; positive regulation of tumor necrosis factor production; positive regulation of interleukin-8 production; positive regulation of interleukin-6 production; negative regulation of interleukin-6 production; positive regulation of interleukin-12 production; positive regulation of interleukin-10 production; positive regulation of interleukin-1 production; positive regulation of interferon-gamma production; positive regulation of interferon-beta production; positive regul | 9q33.1 |
| TLR5 | cellular response to mechanical stimulus; MyD88-dependent toll-like receptor signaling pathway; inflammatory response; signal transduction; positive regulation of interleukin-8 production; positive regulation of toll-like receptor signaling pathway; innate immune response | 1q41-q42 |
| TLR6 | defense response to bacterium; cellular response to diacyl bacterial lipopeptide; positive regulation of interleukin-6 biosynthetic process; innate immune response; positive regulation of JUN kinase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; inflammatory response; detection of diacyl bacterial lipopeptide; toll-like receptor 4 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; T-helper 1 type immune response; Toll signaling pathway; activation of NF-kappaB-inducing kinase activity; signal transduction; immune response | 4p14 |
| TLR7 | positive regulation of NF-kappaB import into nucleus; positive regulation of inflammatory response; defense response to virus; pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response; cellular response to mechanical stimulus; positive regulation of interleukin-8 biosynthetic process; positive regulation of interferon-beta biosynthetic process; positive regulation of interferon-alpha biosynthetic process; innate immune response; positive regulation of interferon-gamma biosynthetic process; response to chemical stimulus; toll-like receptor 7 signaling pathway; positive regulation of interleukin-8 production; positive regulation of interleukin-6 production; positive regulation of chemokine production; I-kappaB phosphorylation; signal transduction; microglial cell activation involved in immune response | Xp22.3 |
| TLR8-AS1 | - | Xp22.31 |
| TLR9 | innate immune response; positive regulation of interferon-alpha biosynthetic process; positive regulation of interferon-beta biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; positive regulation of JNK cascade; positive regulation of inflammatory response; positive regulation of NF-kappaB transcription factor activity; positive regulation of nitric-oxide synthase biosynthetic process; positive regulation of interferon-gamma biosynthetic process; response to molecule of bacterial origin; I-kappaB phosphorylation; positive regulation of interleukin-12 production; positive regulation of interleukin-10 production; positive regulation of interleukin-18 production; positive regulation of interleukin-6 production; positive regulation of interferon-beta production; positive regulation of chemokine production; negative regulation of interleukin-8 production; negative regulation of interleukin-6 production; negative regulation of NF-kappaB transcription factor activity; mainten | 3p21.3 |
| TLX1 | positive regulation of cell proliferation; organ formation; central nervous system development; multicellular organismal development; neuron differentiation; cell fate commitment; positive regulation of transcription from RNA polymerase II promoter; spleen development | 10q24 |
| TLX1NB | - | 10q24 |
| TLX3 | neuron fate specification; regulation of respiratory gaseous exchange by neurological system process; neuron migration; multicellular organismal development; central nervous system development; respiratory gaseous exchange; negative regulation of neuron differentiation | 5q35.1 |
| TM2D1 | induction of apoptosis by extracellular signals; apoptotic process | 1p31.3 |
| TM2D2 | - | 8p11.22 |
| TM2D3 | - | 15q26.3 |
| TM4SF1 | - | 3q21-q25 |
| TM4SF1-AS1 | - | - |
| TM4SF18 | - | 3q25.1 |
| TM4SF19-AS1 | - | - |
| TM4SF20 | - | 2q36.3 |
| TM4SF4 | tissue regeneration | 3q25 |
| TM4SF5 | - | 17p13.3 |
| TM6SF1 | - | 15q24-q26 |
| TM6SF2 | - | 19p13.3-p12 |
| TM7SF2 | small molecule metabolic process; cholesterol biosynthetic process | 11q13 |
| TM7SF3 | - | 12q11-q12 |
| TM9SF1 | autophagy | 14q11.2 |
| TM9SF2 | transport | 13q32.3 |
| TM9SF3 | - | 10q24.1 |
| TM9SF4 | - | 20q11.21 |
| TMA16 | - | 4q32.2 |
| TMA16P1 | - | 11q12.1 |
| TMA16P2 | - | 1p34.1 |
| TMA7 | - | 3p21.31 |
| TMBIM1 | - | 2q35 |
| TMBIM4 | regulation of calcium-mediated signaling; anti-apoptosis | 12q14.1-q15 |
| TMBIM6 | negative regulation of apoptotic process | 12q12-q13 |
| TMC1 | sensory perception of sound | 9q21.12 |
| TMC2 | - | 20p13 |
| TMC3 | - | 15q25.1 |
| TMC4 | - | 19q13.42 |
| TMC5 | - | 16p12.3 |
| TMC6 | - | 17q25.3 |
| TMC7 | - | 16p12.3 |
| TMC8 | - | 17q25.3 |
| TMCC1 | - | 3q22.1 |
| TMCC1-AS1 | - | 3q21-q22 |
| TMCC2 | - | 1q32.1 |
| TMCC3 | - | 12q22 |
| TMCO1 | - | 1q22-q25 |
| TMCO3 | cation transport; transmembrane transport | 13q34 |
| TMCO4 | - | 1p36.13 |
| TMCO5A | - | 15q14 |
| TMCO5B | - | 15q13.3 |
| TMCO6 | protein import into nucleus | 5q31.3 |
| TMED1 | signal transduction; cell-cell signaling; protein transport | 19p13.2 |
| TMED10 | retrograde vesicle-mediated transport, Golgi to ER; beta-amyloid formation; regulated secretory pathway; vesicle targeting, to, from or within Golgi; Golgi organization; intracellular protein transport; COPI-coated vesicle budding; cargo loading into vesicle; COPI coating of Golgi vesicle; COPII vesicle coating; ER to Golgi vesicle-mediated transport | 14q24.3 |
| TMED10P1 | - | 8q24.3 |
| TMED10P2 | - | 3q21.3 |
| TMED11P | - | 4p16.3 |
| TMED2 | COPII vesicle coating; maternal placenta development; COPI coating of Golgi vesicle; embryonic morphogenesis; protein targeting to plasma membrane; cargo loading into vesicle; multicellular organism growth; neural tube closure; embryonic placenta development; tail morphogenesis; negative regulation of GTPase activity; somite rostral/caudal axis specification; positive regulation of gene expression; Golgi organization; ER to Golgi vesicle-mediated transport; intracellular protein transport; heart looping | 12q24.31 |
| TMED3 | protein transport | 15q24-q25 |
| TMED4 | positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction; protein transport | 7p13 |
| TMED5 | protein transport; Golgi ribbon formation | 1pter-q31.3 |
| TMED6 | transport | 16q22.1 |
| TMED7 | protein transport | 5q22.3 |
| TMED8 | transport | 14q24.3 |
| TMED9 | positive regulation of organelle organization; protein transport; protein exit from endoplasmic reticulum; early endosome to Golgi transport; Golgi organization; COPI coating of Golgi vesicle | 5q35.3 |
| TMEFF1 | multicellular organismal development | 9q31 |
| TMEFF2 | - | 2q32.3 |
| TMEM100 | - | 17q22 |
| TMEM101 | positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction | 17q21.31 |
| TMEM102 | response to cytokine stimulus; signal transduction; regulation of apoptotic process | 17p13.1 |
| TMEM104 | - | 17q25.1 |
| TMEM105 | - | 17q25.3 |
| TMEM106A | - | 17q21.31 |
| TMEM106B | - | 7p21.3 |
| TMEM106C | - | 12q13.1 |
| TMEM107 | - | 17p13.1 |
| TMEM108 | - | 3q21 |
| TMEM109 | - | 11q12.2 |
| TMEM11 | mitochondrion organization | 17p11.2 |
| TMEM110 | - | 3p21.1 |
| TMEM115 | negative regulation of cell proliferation; replicative cell aging | 3p21.3 |
| TMEM116 | - | 12q24.13 |
| TMEM117 | - | 12q12 |
| TMEM119 | - | 12q23.3 |
| TMEM120A | - | 7q11.23 |
| TMEM120B | - | 12q24.31 |
| TMEM121 | - | 14q32.33 |
| TMEM123 | oncosis | 11q22.1 |
| TMEM125 | - | 1p34.2 |
| TMEM126A | optic nerve development | 11q14.1 |
| TMEM126B | - | 11q14.1 |
| TMEM127 | negative regulation of TOR signaling cascade; negative regulation of cell proliferation | 2q11.2 |
| TMEM128 | - | 4p16.3 |
| TMEM129 | - | 4p16.3 |
| TMEM130 | - | 7q22.1 |
| TMEM131 | - | 2q11.2 |
| TMEM132A | - | 11q12.2 |
| TMEM132B | - | 12q24.31 |
| TMEM132C | - | 12q24.32 |
| TMEM132D | negative regulation of phosphatase activity | 12q24.33 |
| TMEM132E | - | 17q12 |
| TMEM133 | - | 11q22.1 |
| TMEM134 | - | 11q13.2 |
| TMEM135 | peroxisome organization | 11q14.2 |
| TMEM136 | - | 11q23.3 |
| TMEM138 | - | 11q12.2 |
| TMEM139 | - | 7q34 |
| TMEM140 | - | 7q33 |
| TMEM141 | - | 9q34.3 |
| TMEM143 | - | 19q13.33 |
| TMEM144 | - | 4q32.1 |
| TMEM145 | - | 19q13.2 |
| TMEM147 | - | 19q13.1 |
| TMEM147-AS1 | - | - |
| TMEM14A | - | 6p12.2 |
| TMEM14B | - | 6p25.1-p23 |
| TMEM14C | heme biosynthetic process | 6p24.2 |
| TMEM14D | - | 10q21.3 |
| TMEM14EP | - | 3q25.1 |
| TMEM150A | catabolic process | 2p11.2 |
| TMEM150B | - | 19q13.42 |
| TMEM150C | - | 4q21.22 |
| TMEM151A | - | 11q13.2 |
| TMEM151B | - | 6p21.1 |
| TMEM154 | - | 4q31.3 |
| TMEM155 | - | 4q27 |
| TMEM156 | - | 4p14 |
| TMEM158 | - | 3p21.3 |
| TMEM159 | - | 16p12 |
| TMEM160 | - | 19q13.32 |
| TMEM161A | positive regulation of DNA repair; negative regulation of apoptotic process; cellular response to UV; cellular response to oxidative stress; response to retinoic acid | 19p13.11 |
| TMEM161B | - | 5q14.3 |
| TMEM161B-AS1 | - | - |
| TMEM161BP1 | - | 10p11.21 |
| TMEM163 | - | 2q21.3 |
| TMEM164 | - | Xq22.3 |
| TMEM165 | - | 4q12 |
| TMEM167A | - | 5q14.2 |
| TMEM167B | - | 1p13.3 |
| TMEM168 | - | 7q31.32 |
| TMEM169 | - | 2q35 |
| TMEM17 | smoothened signaling pathway; cilium assembly; cell projection organization | 2p15 |
| TMEM170A | - | 16q23.1 |
| TMEM170B | - | 6p24.2 |
| TMEM171 | - | 5q13.2 |
| TMEM173 | defense response to virus; cellular response to exogenous dsRNA; activation of innate immune response; positive regulation of defense response to virus by host; apoptotic process; positive regulation of protein binding; interferon-beta production; positive regulation of protein import into nucleus, translocation; positive regulation of transcription factor import into nucleus; innate immune response; positive regulation of transcription from RNA polymerase II promoter | 5q31.2 |
| TMEM174 | - | 5q13.2 |
| TMEM175 | - | 4p16.3 |
| TMEM176A | - | 7q36.1 |
| TMEM176B | cell differentiation; organ morphogenesis | 7q36.1 |
| TMEM177 | - | 2q14.2 |
| TMEM178A | - | 2p22.1 |
| TMEM178B | - | 7q34 |
| TMEM179 | - | 14q32.33 |
| TMEM18 | transcription, DNA-dependent; cell migration | 2p25.3 |
| TMEM181 | pathogenesis | 6q25.3 |
| TMEM182 | - | 2q12.1 |
| TMEM183A | - | 1q32.1 |
| TMEM183AP1 | - | 6p21.3 |
| TMEM183B | - | 3q25.1 |
| TMEM184A | - | 7p22.3 |
| TMEM184B | - | 22q12 |
| TMEM184C | - | 4q31.23 |
| TMEM185A | - | Xq28 |
| TMEM185B | - | 2q14.2 |
| TMEM186 | - | 16p13.2 |
| TMEM187 | - | Xq28 |
| TMEM189 | - | 20q13.2 |
| TMEM19 | - | 12q21.1 |
| TMEM191A | - | 22q11.21 |
| TMEM191C | - | 22q11.21 |
| TMEM192 | - | 4q32.3 |
| TMEM196 | - | 7p21.1 |
| TMEM198 | - | 2q35 |
| TMEM198B | - | 12q13.2 |
| TMEM199 | - | 17q11.2 |
| TMEM2 | multicellular organismal development | 9q21.13 |
| TMEM200A | - | 6q23.1 |
| TMEM200B | - | 1p35 |
| TMEM200C | - | 18p11.31 |
| TMEM201 | - | 1p36.22 |
| TMEM202 | - | 15q24.1 |
| TMEM203 | - | 9q34.3 |
| TMEM204 | regulation of vascular endothelial growth factor receptor signaling pathway; smooth muscle cell differentiation; lymph vessel development; response to stress | 16p13.3 |
| TMEM205 | - | 19p13.2 |
| TMEM206 | - | 1q32.3 |
| TMEM207 | - | 3q28 |
| TMEM208 | - | 16q22.1 |
| TMEM209 | - | 7q32.2 |
| TMEM210 | - | 9q34.3 |
| TMEM211 | - | 22q11.23 |
| TMEM212 | - | 3q26.31 |
| TMEM212-IT1 | - | - |
| TMEM214 | - | 2p23.3 |
| TMEM215 | - | 9p21.1 |
| TMEM216 | cilium morphogenesis; cell projection organization | 11q13.1 |
| TMEM217 | - | 6p21.2 |
| TMEM218 | - | 11q24.2 |
| TMEM219 | - | 16p11.2 |
| TMEM220 | - | 17p13.1 |
| TMEM220-AS1 | - | 17p13.1-p12 |
| TMEM221 | - | 19p13.11 |
| TMEM222 | - | 1p36.11 |
| TMEM223 | - | 11q12.3 |
| TMEM229A | - | 7q31.32 |
| TMEM229B | - | 14q24.1 |
| TMEM230 | - | 20p13 |
| TMEM231 | cilium assembly; smoothened signaling pathway; cell projection organization | 16q23.1 |
| TMEM232 | - | 5q22.1 |
| TMEM233 | response to biotic stimulus | 12q24.23 |
| TMEM234 | - | 1p36.11-p34.2 |
| TMEM236 | - | 10p12.33 |
| TMEM237 | cilium assembly; regulation of Wnt receptor signaling pathway; cell projection organization | 2q33.2 |
| TMEM238 | - | 19q13.42 |
| TMEM241 | - | 18q11.2 |
| TMEM242 | - | 6q25.3 |
| TMEM243 | - | 7q21.12 |
| TMEM244 | - | 6q22.33 |
| TMEM245 | - | 9q31 |
| TMEM246 | - | 9q31.1 |
| TMEM248 | - | 7q11.21 |
| TMEM248P1 | - | 4q28.1 |
| TMEM249 | - | 8q24.3 |
| TMEM25 | - | 11q23.3 |
| TMEM251 | - | 14q32.12 |
| TMEM252 | - | 9q21.11 |
| TMEM253 | - | 14q11.2 |
| TMEM254 | - | 10q22.3 |
| TMEM254-AS1 | - | 10q23.1 |
| TMEM255A | - | Xq24 |
| TMEM255B | - | 13q34 |
| TMEM256 | - | 17p13.1 |
| TMEM256-PLSCR3 | - | 17p |
| TMEM256P1 | - | 10q22.1 |
| TMEM258 | - | 11q12.2 |
| TMEM259 | - | 19p13.3 |
| TMEM26 | - | 10q21.2 |
| TMEM260 | - | 14q22.3 |
| TMEM261 | - | 9p24.1 |
| TMEM262 | - | 11q13.1 |
| TMEM263 | - | 12q23.3 |
| TMEM266 | - | 15q24.2 |
| TMEM27 | proteolysis | Xp22 |
| TMEM30A | positive regulation of protein exit from endoplasmic reticulum; protein localization to organelle | 6q14.1 |
| TMEM30B | positive regulation of protein exit from endoplasmic reticulum | 14q23.1 |
| TMEM30C | - | 3q12.1 |
| TMEM31 | - | Xq22.2 |
| TMEM33 | - | 4p13 |
| TMEM35 | - | Xq22.1 |
| TMEM37 | ion transport | 2q14.2 |
| TMEM38A | potassium ion transmembrane transport; potassium ion transport; ion transport | 19p13.11 |
| TMEM38B | potassium ion transmembrane transport; potassium ion transport; ion transport | 9q31.2 |
| TMEM39A | - | 3q13.33 |
| TMEM39B | - | 1p35.1 |
| TMEM40 | - | 3p25.2 |
| TMEM41A | - | 3q27.2 |
| TMEM41B | - | 11p15.4 |
| TMEM42 | - | 3p21.31 |
| TMEM43 | - | 3p25.1 |
| TMEM44 | - | 3q29 |
| TMEM44-AS1 | - | 3q29 |
| TMEM45A | - | 3q12.2 |
| TMEM45B | - | 11q24.3 |
| TMEM47 | - | Xp11.4 |
| TMEM5 | - | 12q14.2 |
| TMEM5-AS1 | - | 12q14.2 |
| TMEM50A | - | 1p36.11 |
| TMEM50B | - | 21q22.11 |
| TMEM51 | - | 1p36.21 |
| TMEM51-AS1 | - | 1p36.21 |
| TMEM52 | - | 1p36.33 |
| TMEM52B | - | 12p13.2 |
| TMEM53 | - | 1p34.1 |
| TMEM54 | - | 1p35-p34 |
| TMEM55A | - | 8q21.3 |
| TMEM55B | - | 14q11.2 |
| TMEM56 | - | 1p21.3 |
| TMEM56-RWDD3 | - | 1p |
| TMEM57 | brain development | 1p36.11|1p36.11 |
| TMEM59 | - | 1p32.3 |
| TMEM59L | - | 19p12 |
| TMEM60 | - | 7q11.23 |
| TMEM61 | - | 1p32.3 |
| TMEM62 | - | 15q15.2 |
| TMEM63A | - | 1q42.12 |
| TMEM63B | - | 6p21.1 |
| TMEM63C | - | 14q24.3 |
| TMEM64 | - | 8q21.3 |
| TMEM65 | - | 8q24.13 |
| TMEM67 | cilium morphogenesis; branching morphogenesis of a tube; negative regulation of centrosome duplication; cell projection organization; cilium assembly; ER-associated protein catabolic process | 8q22.1 |
| TMEM68 | metabolic process | 8q12.1 |
| TMEM69 | - | 1p34.1 |
| TMEM70 | mitochondrial proton-transporting ATP synthase complex assembly | 8q21.11 |
| TMEM71 | - | 8q24.22 |
| TMEM72 | - | 10q11.21 |
| TMEM72-AS1 | - | 10q11.21 |
| TMEM74 | autophagy | 8q23.1 |
| TMEM74B | - | 20p13 |
| TMEM75 | - | 8q24.21 |
| TMEM78 | - | 1q42.13 |
| TMEM79 | - | 1q22 |
| TMEM80 | - | 11p15.5 |
| TMEM81 | - | 1q32.1 |
| TMEM86A | - | 11p15.1 |
| TMEM86B | ether lipid metabolic process | 19q13.42 |
| TMEM87A | - | 15q15.1 |
| TMEM87B | - | 2q13 |
| TMEM88 | - | 17p13.1 |
| TMEM89 | - | 3p21.31 |
| TMEM8A | cell adhesion | 16p13.3 |
| TMEM8B | regulation of growth; regulation of mitotic cell cycle; cell-matrix adhesion; cell adhesion | 9p13.3 |
| TMEM8C | - | 9q34.2 |
| TMEM9 | transport | - |
| TMEM91 | response to biotic stimulus | 19q13.2 |
| TMEM92 | - | 17q21.33 |
| TMEM95 | - | 17p13.1 |
| TMEM97 | cholesterol homeostasis; regulation of cell growth | 17q11.2 |
| TMEM97P2 | - | 8p21.3 |
| TMEM98 | - | 17q11.2 |
| TMEM99 | - | 17q21.2 |
| TMEM9B | signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 11p15.3 |
| TMEM9B-AS1 | - | 11p15.3 |
| TMF1 | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 3p21-p12 |
| TMIE | sensory perception of sound; inner ear morphogenesis | 3p21 |
| TMIGD2 | - | 19p13.3 |
| TMLHE | negative regulation of oxidoreductase activity; carnitine biosynthetic process; small molecule metabolic process; cellular nitrogen compound metabolic process | Xq28 |
| TMOD1 | muscle filament sliding; myofibril assembly | 9q22.3 |
| TMOD2 | nervous system development; learning or memory; positive regulation of G-protein coupled receptor protein signaling pathway; neuron-neuron synaptic transmission | 15q21.2 |
| TMOD3 | - | 15q21.1-q21.2 |
| TMPO | regulation of transcription, DNA-dependent | 12q22 |
| TMPO-AS1 | - | 12q23.1 |
| TMPOP1 | - | 6p21.33 |
| TMPPE | - | 3p22.3 |
| TMPRSS11A | proteolysis; cell cycle | 4q13.2 |
| TMPRSS11BNL | - | 4q13.2 |
| TMPRSS11D | respiratory gaseous exchange; regulation of growth; proteolysis | 4q13.2 |
| TMPRSS11E | proteolysis | 4q13.2 |
| TMPRSS11F | proteolysis | 4q13.2 |
| TMPRSS11GP | - | 4q13.2 |
| TMPRSS12 | proteolysis | 12q13.12 |
| TMPRSS13 | proteolysis | 11q23 |
| TMPRSS15 | proteolysis | 21q21.1 |
| TMPRSS2 | proteolysis | 21q22.3 |
| TMPRSS3 | sensory perception of sound; proteolysis; cellular sodium ion homeostasis | 21q22.3 |
| TMPRSS4 | proteolysis | 11q23.3 |
| TMPRSS5 | proteolysis | 11q |
| TMPRSS6 | angiogenesis; proteolysis; fibrinolysis; extracellular matrix organization; intracellular signal transduction | 22q12.3 |
| TMPRSS7 | proteolysis | 3q13.2 |
| TMPRSS9 | proteolysis | 19p13.3 |
| TMSB10 | sequestering of actin monomers; actin cytoskeleton organization | 2p11.2 |
| TMSB15A | sequestering of actin monomers; actin cytoskeleton organization | Xq21.33-q22.3 |
| TMSB15B | sequestering of actin monomers; actin cytoskeleton organization | Xq22.2 |
| TMSB4X | platelet degranulation; blood coagulation; actin cytoskeleton organization; platelet activation; regulation of cell migration; sequestering of actin monomers | Xq21.3-q22 |
| TMSB4XP2 | - | 2p25.3 |
| TMSB4XP3 | - | - |
| TMSB4XP4 | - | 9q34.11 |
| TMSB4Y | regulation of actin polymerization or depolymerization; actin cytoskeleton organization; sequestering of actin monomers | Yq11.221 |
| TMTC1 | - | 12p11.22 |
| TMTC2 | - | 12q21.31 |
| TMTC3 | - | 12q21.32 |
| TMTC4 | - | 13q32.3 |
| TMUB1 | - | 7q36.1 |
| TMUB2 | - | 17q21.31 |
| TMX1 | transport; positive regulation of growth; positive regulation of transcription, DNA-dependent; cell redox homeostasis; leukocyte activation; electron transport chain; cell proliferation; signal transduction; response to stress; anti-apoptosis; ER to Golgi vesicle-mediated transport; DNA replication | 14q22.1 |
| TMX2 | cell redox homeostasis | 11cen-q22.3 |
| TMX3 | cell redox homeostasis; glycerol ether metabolic process | 18q22 |
| TMX4 | transport; electron transport chain; cell redox homeostasis | 20p12 |
| TNC | prostate gland epithelium morphogenesis; mesenchymal-epithelial cell signaling involved in prostate gland development; peripheral nervous system axon regeneration; positive regulation of gene expression; response to wounding; positive regulation of cell proliferation; neuromuscular junction development; signal transduction; cell adhesion | 9q33 |
| TNF | positive regulation of peptidyl-serine phosphorylation; positive regulation of NF-kappaB import into nucleus; glucose metabolic process; positive regulation of heterotypic cell-cell adhesion; tumor necrosis factor-mediated signaling pathway; sequestering of triglyceride; receptor biosynthetic process; positive regulation of interleukin-6 production; positive regulation of interferon-gamma production; positive regulation of chemokine production; negative regulation of interleukin-6 production; lipopolysaccharide-mediated signaling pathway; positive regulation of fever generation; positive regulation of protein complex assembly; extracellular matrix organization; induction of apoptosis by extracellular signals; apoptotic process; anti-apoptosis; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; transformed cell apoptosis; inflammatory response; humoral immune response; signal transduction; multicellular organismal development; negative regulation of cell p | 6p21.3 |
| TNFAIP1 | stress fiber assembly; negative regulation of Rho protein signal transduction; protein ubiquitination; proteasomal ubiquitin-dependent protein catabolic process; cell migration; immune response; apoptotic process; potassium ion transport; DNA replication; embryo development | 17q22-q23 |
| TNFAIP2 | angiogenesis; multicellular organismal development; cell differentiation | 14q32 |
| TNFAIP3 | negative regulation of interleukin-2 production; innate immune response; negative regulation of interleukin-6 production; negative regulation of tumor necrosis factor production; negative regulation of toll-like receptor 2 signaling pathway; negative regulation of toll-like receptor 3 signaling pathway; negative regulation of toll-like receptor 4 signaling pathway; negative regulation of toll-like receptor 5 signaling pathway; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; negative regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of interleukin-1 beta production; response to muramyl dipeptide; negative regulation of type I interferon production; negative regulation of NF-kappaB transcription factor activity; negative regulation of protein ubiquitination; protein deubiquitination; anti-apoptosis; proteolysis; regulation of germinal center formation; response to m | 6q23 |
| TNFAIP6 | cell-cell signaling; signal transduction; cell adhesion; inflammatory response | 2q23.3 |
| TNFAIP8 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of anti-apoptosis; anti-apoptosis | 5q23.1 |
| TNFAIP8L1 | - | 19p13.3 |
| TNFAIP8L2 | innate immune response | 1q21.3 |
| TNFAIP8L3 | - | 15q21.2 |
| TNFRSF10A | activation of NF-kappaB-inducing kinase activity; signal transduction; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; induction of apoptosis via death domain receptors; cellular response to mechanical stimulus; extrinsic apoptotic signaling pathway | 8p21 |
| TNFRSF10B | cellular response to mechanical stimulus; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; activation of pro-apoptotic gene products; induction of apoptosis via death domain receptors; induction of apoptosis by extracellular signals; apoptotic process; activation of NF-kappaB-inducing kinase activity; cell surface receptor signaling pathway; activation of cysteine-type endopeptidase activity involved in apoptotic process | 8p22-p21 |
| TNFRSF10C | signal transduction; apoptotic process | 8p22-p21 |
| TNFRSF10D | signal transduction; anti-apoptosis; apoptotic process | 8p21 |
| TNFRSF11A | circadian temperature homeostasis; lymph node development; response to tumor necrosis factor; mammary gland alveolus development; response to interleukin-1; positive regulation of fever generation by positive regulation of prostaglandin secretion; TNFSF11-mediated signaling pathway; positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling; positive regulation of NF-kappaB transcription factor activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of JUN kinase activity; tumor necrosis factor-mediated signaling pathway; ossification; adaptive immune response; monocyte chemotaxis; signal transduction; cell-cell signaling; multicellular organismal development; positive regulation of cell proliferation; osteoclast differentiation; response to lipopolysaccharide; response to cytokine stimulus | 18q22.1 |
| TNFRSF11B | signal transduction; response to nutrient; extracellular matrix organization; response to magnesium ion; negative regulation of odontogenesis of dentin-containing tooth; response to drug; response to estrogen stimulus; negative regulation of bone resorption; response to arsenic-containing substance; apoptotic process; skeletal system development | 8q24 |
| TNFRSF12A | cellular component movement; cell differentiation; induction of apoptosis; apoptotic process; angiogenesis; substrate-dependent cell migration, cell attachment to substrate; cell adhesion; positive regulation of extrinsic apoptotic signaling pathway; multicellular organismal development; cell death; positive regulation of axon extension | 16p13.3 |
| TNFRSF13B | cell surface receptor signaling pathway; B cell homeostasis; negative regulation of B cell proliferation | 17p11.2 |
| TNFRSF13C | positive regulation of germinal center formation; positive regulation of T cell proliferation; B cell costimulation; positive regulation of interferon-gamma biosynthetic process; regulation of immune response; T cell costimulation; B cell homeostasis; positive regulation of B cell proliferation | 22q13.1-q13.31 |
| TNFRSF14 | immune response; cell surface receptor signaling pathway; T cell costimulation; tumor necrosis factor-mediated signaling pathway; interspecies interaction between organisms; negative regulation of alpha-beta T cell proliferation; positive regulation of peptidyl-tyrosine phosphorylation | 1p36.32 |
| TNFRSF17 | multicellular organismal development; tumor necrosis factor-mediated signaling pathway; cell proliferation; signal transduction | 16p13.1 |
| TNFRSF18 | tumor necrosis factor-mediated signaling pathway; signal transduction; apoptotic process; anti-apoptosis | 1p36.3 |
| TNFRSF19 | positive regulation of I-kappaB kinase/NF-kappaB cascade; tumor necrosis factor-mediated signaling pathway; JNK cascade; induction of apoptosis; apoptotic process; hair follicle development | 13q12.11-q12.3 |
| TNFRSF1A | response to lipopolysaccharide; response to hypoxia; prostaglandin metabolic process; apoptotic process; inflammatory response; induction of apoptosis by extracellular signals; flavonoid metabolic process; positive regulation of gene expression; negative regulation of gene expression; diterpenoid metabolic process; cytokine-mediated signaling pathway; negative regulation of interleukin-6 production; positive regulation of tumor necrosis factor production; positive regulation of protein import into nucleus, translocation; cellular response to estradiol stimulus; cellular response to mechanical stimulus; positive regulation of inflammatory response; positive regulation of transcription from RNA polymerase II promoter; positive regulation of angiogenesis; response to ethanol; interspecies interaction between organisms; response to alkaloid; response to amino acid stimulus; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; defense response to bacterium; positive regulation | 12p13.2 |
| TNFRSF1B | negative regulation of inflammatory response; RNA destabilization; cell death; tumor necrosis factor-mediated signaling pathway; cell surface receptor signaling pathway; apoptotic process | 1p36.22 |
| TNFRSF21 | neuron apoptosis; small molecule metabolic process; signal transduction; cellular lipid metabolic process | 6p21.1 |
| TNFRSF25 | induction of apoptosis; signal transduction; cell surface receptor signaling pathway; induction of apoptosis by extracellular signals; tumor necrosis factor-mediated signaling pathway; regulation of apoptotic process; apoptotic process | 1p36.2 |
| TNFRSF4 | positive regulation of immunoglobulin secretion; negative regulation of T cell apoptosis; inflammatory response; immune response; cellular defense response; positive regulation of B cell proliferation; tumor necrosis factor-mediated signaling pathway; T cell proliferation; regulation of apoptotic process; negative regulation of sequence-specific DNA binding transcription factor activity; positive regulation of anti-apoptosis; regulation of protein kinase activity; negative regulation of transcription, DNA-dependent; negative regulation of cytokine secretion | 1p36 |
| TNFRSF6B | anti-apoptosis; apoptotic process | 20q13.3 |
| TNFRSF8 | positive regulation of NF-kappaB transcription factor activity; negative regulation of cell proliferation; tumor necrosis factor-mediated signaling pathway; positive regulation of tumor necrosis factor biosynthetic process; positive regulation of apoptotic process; positive regulation of TRAIL biosynthetic process; cellular response to mechanical stimulus; signal transduction | 1p36 |
| TNFRSF9 | induction of apoptosis; negative regulation of cell proliferation | 1p36 |
| TNFSF10 | apoptotic process; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; immune response; signal transduction; cell-cell signaling; induction of apoptosis by extracellular signals; activation of pro-apoptotic gene products; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of release of cytochrome c from mitochondria; positive regulation of extrinsic apoptotic signaling pathway | 3q26 |
| TNFSF11 | positive regulation of osteoclast differentiation; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling; TNFSF11-mediated signaling pathway; positive regulation of fever generation by positive regulation of prostaglandin secretion; ERK1 and ERK2 cascade; mammary gland alveolus development; positive regulation of protein kinase B signaling cascade; positive regulation of corticotropin-releasing hormone secretion; protein homooligomerization; ossification; monocyte chemotaxis; response to stress; immune response; activation of JUN kinase activity; multicellular organismal development; response to radiation; positive regulation of intracellular protein kinase cascade; positive regulation of T cell activation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of bone resorption; positive regulation of NF-kappaB transcription factor activity; positive regulation of MAP | 13q14 |
| TNFSF12 | positive regulation of endothelial cell proliferation; induction of apoptosis; immune response; signal transduction; multicellular organismal development; induction of apoptosis by extracellular signals; cell differentiation; endothelial cell migration; positive regulation of angiogenesis; positive regulation of extrinsic apoptotic signaling pathway; apoptotic process | 17p13 |
| TNFSF13 | positive regulation of isotype switching to IgA isotypes; mRNA metabolic process; immunoglobulin production in mucosal tissue; positive regulation of germinal center formation; signal transduction; positive regulation of cell proliferation; gene expression; immunoglobulin mediated immune response; RNA metabolic process; regulation of immune response | 17p13.1 |
| TNFSF13B | positive regulation of B cell proliferation; B cell costimulation; positive regulation of cell proliferation; T cell costimulation; signal transduction; cell proliferation; positive regulation of T cell proliferation; positive regulation of survival gene product expression; immunoglobulin secretion; regulation of immune response; B cell homeostasis; positive regulation of germinal center formation | 13q32-q34 |
| TNFSF14 | induction of apoptosis; immune response; signal transduction; release of cytoplasmic sequestered NF-kappaB; T cell costimulation; T cell proliferation; T cell activation; T cell homeostasis; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; cellular response to mechanical stimulus | 19p13.3 |
| TNFSF15 | activation of cysteine-type endopeptidase activity involved in apoptotic process; immune response; signal transduction; activation of NF-kappaB-inducing kinase activity; cytokine metabolic process; positive regulation of cytokine secretion | 9q32 |
| TNFSF18 | anti-apoptosis; positive regulation of NF-kappaB transcription factor activity; cell-cell signaling; signal transduction; regulation of T cell proliferation; immune response; T cell proliferation involved in immune response; tumor necrosis factor-mediated signaling pathway | 1q23 |
| TNFSF4 | memory T cell activation; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of regulatory T cell differentiation; negative regulation of T-helper 1 cell differentiation; positive regulation of T-helper 2 cell differentiation; negative regulation of transcription, DNA-dependent; positive regulation of alpha-beta T cell proliferation; negative regulation of cytokine secretion; regulation of inflammatory response; positive regulation of inflammatory response; positive regulation of B cell activation; positive regulation of immunoglobulin secretion; cellular response to lipopolysaccharide; cellular response to prostaglandin E stimulus; chemokine (C-C motif) ligand 11 production; positive regulation of T cell costimulation; immune response; interleukin-4-dependent isotype switching to IgE isotypes; positive regulation of interleukin-6 production; positive regulation of interleukin-4 production; positive regulation of interleukin-2 production; positive regulatio | 1q25 |
| TNFSF8 | cell-cell signaling; cell proliferation; signal transduction; immune response; induction of apoptosis | 9q33 |
| TNFSF9 | cell proliferation; regulation of cell proliferation; signal transduction; immune response; apoptotic process; cell-cell signaling | 19p13.3 |
| TNIK | regulation of dendrite morphogenesis; protein autophosphorylation; actin cytoskeleton reorganization; Wnt receptor signaling pathway; nervous system development; cytoskeleton organization; activation of JNKK activity; intracellular protein kinase cascade; protein phosphorylation; response to stress | 3q26.31 |
| TNIP1 | translation; defense response; glycoprotein biosynthetic process; negative regulation of viral genome replication | 5q32-q33.1 |
| TNIP2 | I-kappaB kinase/NF-kappaB cascade | 4p16.3 |
| TNIP3 | - | 4q27 |
| TNK1 | signal transduction; negative regulation of cell growth; negative regulation of Ras protein signal transduction; protein autophosphorylation; protein phosphorylation | 17p13.1 |
| TNK2 | endocytosis; regulation of clathrin-mediated endocytosis; cell surface receptor signaling pathway; protein ubiquitination; phosphorylation; positive regulation of peptidyl-tyrosine phosphorylation; small GTPase mediated signal transduction | 3q29 |
| TNKS | mRNA transport; negative regulation of DNA binding; positive regulation of telomere maintenance via telomerase; spindle assembly; protein localization to chromosome, telomeric region; protein poly-ADP-ribosylation; protein auto-ADP-ribosylation; positive regulation of canonical Wnt receptor signaling pathway; peptidyl-threonine phosphorylation; regulation of telomere maintenance via telomerase; peptidyl-serine phosphorylation; Wnt receptor signaling pathway; protein transport; mitotic spindle organization; protein ADP-ribosylation; protein polyubiquitination | 8p23.1 |
| TNKS1BP1 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA poly(A) tail shortening; telomere maintenance via telomerase; gene expression; RNA metabolic process; mRNA metabolic process | 11q12.1 |
| TNKS2 | regulation of multicellular organism growth; protein polyubiquitination; protein ADP-ribosylation; Wnt receptor signaling pathway; positive regulation of telomere maintenance via telomerase; positive regulation of canonical Wnt receptor signaling pathway; protein auto-ADP-ribosylation; protein localization to chromosome, telomeric region | 10q23.3 |
| TNKS2-AS1 | - | - |
| TNMD | endothelial cell morphogenesis; negative regulation of angiogenesis; negative regulation of endothelial cell proliferation | Xq21.33-q23 |
| TNN | axonogenesis; cell-matrix adhesion; signal transduction; cell growth; cell migration | 1q23-q24 |
| TNNC1 | ventricular cardiac muscle tissue morphogenesis; cardiac muscle contraction; regulation of ATPase activity; regulation of muscle filament sliding speed; muscle filament sliding; regulation of muscle contraction | 3p21.1 |
| TNNC2 | regulation of muscle contraction; muscle filament sliding; skeletal muscle contraction | 20q12-q13.11 |
| TNNI1 | regulation of striated muscle contraction; muscle filament sliding; ventricular cardiac muscle tissue morphogenesis | 1q31.3 |
| TNNI2 | skeletal muscle contraction; muscle filament sliding; positive regulation of transcription, DNA-dependent | 11p15.5 |
| TNNI3 | negative regulation of ATPase activity; ventricular cardiac muscle tissue morphogenesis; heart contraction; cardiac muscle contraction; regulation of systemic arterial blood pressure by ischemic conditions; heart development; muscle filament sliding; vasculogenesis; cellular calcium ion homeostasis; regulation of smooth muscle contraction | 19q13.4 |
| TNNI3K | protein phosphorylation | 1p31.1 |
| TNNT1 | skeletal muscle contraction; muscle filament sliding; slow-twitch skeletal muscle fiber contraction; negative regulation of muscle contraction | 19q13.4 |
| TNNT2 | ATP catabolic process; regulation of heart contraction; muscle filament sliding; negative regulation of ATPase activity; positive regulation of ATPase activity; response to calcium ion; ventricular cardiac muscle tissue morphogenesis | 1q32 |
| TNNT3 | regulation of ATPase activity; regulation of striated muscle contraction; muscle filament sliding; skeletal muscle contraction | 11p15.5 |
| TNP1 | single strand break repair; nucleosome disassembly; chromatin remodeling; chromatin silencing; multicellular organismal development; spermatogenesis; spermatid development; spermatid nucleus differentiation; spermatid nucleus elongation; sexual reproduction; sperm motility; fertilization, exchange of chromosomal proteins; negative regulation of transcription, DNA-dependent; cell differentiation | 2q35-q36 |
| TNP2 | cell differentiation; penetration of zona pellucida; acrosome reaction; binding of sperm to zona pellucida; spermatogenesis; multicellular organismal development; sperm motility | 16p13.13 |
| TNPO1 | interspecies interaction between organisms; mRNA metabolic process; RNA metabolic process; gene expression; protein import into nucleus, translocation | 5q13.2 |
| TNPO1P1 | - | - |
| TNPO1P2 | - | 17p11.2 |
| TNPO2 | intracellular protein transport | 19p13.2 |
| TNPO3 | splicing factor protein import into nucleus; protein transport | 7q32.1 |
| TNR | synapse organization; long-term synaptic potentiation; positive regulation of transmission of nerve impulse; positive regulation of synaptic transmission, glutamatergic; neuromuscular process controlling balance; negative regulation of synaptic transmission; negative regulation of axon extension involved in regeneration; locomotory exploration behavior; extracellular matrix organization; telencephalon cell migration; negative regulation of neuron projection development; associative learning; axon guidance; signal transduction; neuron cell-cell adhesion; cell adhesion; negative regulation of cell-cell adhesion | 1q24 |
| TNRC18 | - | 7p22.1 |
| TNRC18P1 | - | 4q31.21 |
| TNRC18P3 | - | 7p11.2 |
| TNRC6A | gene silencing by RNA; regulation of translation; cellular response to starvation; negative regulation of translation involved in gene silencing by miRNA | 16p11.2 |
| TNRC6B | regulation of translation; gene silencing by RNA | 22q13.1 |
| TNRC6C | regulation of translation; gene silencing by RNA | 17q25.3 |
| TNRC6C-AS1 | - | 17q25.3 |
| TNS1 | cell-substrate junction assembly; fibroblast migration | 2q35-q36 |
| TNS2 | negative regulation of cell proliferation; intracellular signal transduction | 12q13.13 |
| TNS3 | positive regulation of cell proliferation; cell migration; intracellular signal transduction; lung alveolus development | 7p12.3 |
| TNS4 | apoptotic process; protein localization | 17q21.2 |
| TNXA | - | 6p21.3 |
| TNXB | signal transduction; elastic fiber assembly; collagen metabolic process; actin cytoskeleton organization; cell adhesion | 6p21.3 |
| TOB1 | negative regulation of cell proliferation | 17q21 |
| TOB1-AS1 | - | 17q21.33 |
| TOB2 | female gamete generation; positive regulation of ossification; negative regulation of osteoclast differentiation; regulation of gene expression; negative regulation of cell proliferation | 22q13.2 |
| TOB2P1 | - | 6p22.1 |
| TOE1 | - | 1p33 |
| TOLLIP | leukocyte activation; innate immune response; intracellular signal transduction; phosphorylation; cell-cell signaling; signal transduction; inflammatory response | 11p15.5 |
| TOM1 | intracellular protein transport; endocytosis; protein transport; endosome transport | 22q13.1 |
| TOM1L1 | positive regulation of catalytic activity; intracellular protein transport; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway | 17q23.2 |
| TOM1L2 | intracellular protein transport | 17p11.2 |
| TOMM20 | protein targeting to mitochondrion | 1q42 |
| TOMM20L | protein targeting | 14q23.1 |
| TOMM22 | intracellular protein transport; protein import into mitochondrial outer membrane; protein targeting to mitochondrion | 22q12-q13 |
| TOMM22P5 | - | 10q26.11 |
| TOMM34 | protein targeting to mitochondrion | - |
| TOMM40 | transmembrane transport; protein transport; protein targeting to mitochondrion | 19q13 |
| TOMM40L | transmembrane transport; protein transport | 1q23.3 |
| TOMM5 | protein targeting to mitochondrion | 9p13.2 |
| TOMM7 | intracellular protein transport; protein targeting to mitochondrion | 7p15.3 |
| TOMM70A | protein targeting to mitochondrion | 3q12.2 |
| TONSL | DNA repair; double-strand break repair via homologous recombination; replication fork processing; cytoplasmic sequestering of transcription factor | 8q24.3 |
| TOP1 | DNA replication; DNA topological change; programmed cell death; phosphorylation; embryonic cleavage; response to drug; interspecies interaction between organisms | 20q12-q13.1 |
| TOP1MT | DNA topological change | 8q24.3 |
| TOP1P2 | - | 22q11.23 |
| TOP2A | sister chromatid segregation; mitotic cell cycle; resolution of meiotic recombination intermediates; DNA replication; response to parathyroid hormone stimulus; mitotic cell cycle G2/M transition decatenation checkpoint; phosphatidylinositol-mediated signaling; positive regulation of retroviral genome replication; positive regulation of viral genome replication; positive regulation of apoptotic process; response to drug; apoptotic chromosome condensation; aging; chromosome segregation; response to DNA damage stimulus; mitotic recombination; DNA repair; DNA ligation; DNA topological change; DNA-dependent DNA replication | 17q21-q22 |
| TOP2B | DNA-dependent DNA replication; mitotic cell cycle G2/M transition decatenation checkpoint; mitotic recombination; DNA topological change; sister chromatid segregation; resolution of meiotic recombination intermediates | 3p24 |
| TOP3A | DNA topological change; meiosis | 17p12-p11.2 |
| TOP3B | chromosome segregation; DNA topological change | 22q11.22 |
| TOPAZ1 | - | 3p21.31 |
| TOPBP1 | response to ionizing radiation; response to DNA damage stimulus; DNA metabolic process; DNA repair | 3q22.1 |
| TOPORS | proteasomal ubiquitin-dependent protein catabolic process; regulation of cell proliferation; protein localization to nucleus; positive regulation of transcription, DNA-dependent; maintenance of protein location in nucleus; protein sumoylation; protein ubiquitination; DNA damage response, signal transduction resulting in induction of apoptosis; response to DNA damage stimulus; apoptotic process; ubiquitin-dependent protein catabolic process; transcription, DNA-dependent | 9p21 |
| TOPORS-AS1 | - | 9p21.1 |
| TOR1A | protein folding; response to unfolded protein; chaperone mediated protein folding requiring cofactor | 9q34 |
| TOR1AIP1 | - | 1q24.2 |
| TOR1AIP2 | - | 1q25.2 |
| TOR1B | response to unfolded protein; chaperone mediated protein folding requiring cofactor | 9q34 |
| TOR2A | chaperone mediated protein folding requiring cofactor | 9q34.11 |
| TOR3A | chaperone mediated protein folding requiring cofactor | 1q25.2 |
| TOR4A | chaperone mediated protein folding requiring cofactor | 9q34.3 |
| TOX | - | 8q12.1 |
| TOX2 | regulation of transcription, DNA-dependent | 20q13.12 |
| TOX3 | apoptotic process; positive regulation of transcription, DNA-dependent; positive regulation of anti-apoptosis; negative regulation of neuron apoptosis | 16q12.1 |
| TOX4 | - | 14q11.2 |
| TOX4P1 | - | 4q25 |
| TP53 | protein complex assembly; apoptotic process; regulation of transcription, DNA-dependent; double-strand break repair; nucleotide-excision repair; base-excision repair; T cell lineage commitment; B cell lineage commitment; T cell proliferation involved in immune response; somitogenesis; in utero embryonic development; DNA strand renaturation; negative regulation of transcription from RNA polymerase II promoter; cell cycle checkpoint; protein import into nucleus, translocation; positive regulation of neuron apoptosis; positive regulation of peptidyl-tyrosine phosphorylation; negative regulation of fibroblast proliferation; regulation of mitochondrial membrane permeability; response to antibiotic; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; interspecies interaction between organisms; regulation of catalytic activity; negative regulation of apoptotic process; positive regulation of ap | 17p13.1 |
| TP53AIP1 | apoptotic process | 11q24 |
| TP53BP1 | DNA repair; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; double-strand break repair; double-strand break repair via homologous recombination | 15q15-q21 |
| TP53BP2 | apoptotic process; induction of apoptosis; signal transduction; central nervous system development; embryo development ending in birth or egg hatching; heart development; negative regulation of cell cycle; response to ionizing radiation | 1q41 |
| TP53I11 | response to stress; negative regulation of cell proliferation | 11p11.2 |
| TP53I13 | - | 17q11.2 |
| TP53I3 | NADP metabolic process; induction of apoptosis by oxidative stress | 2p23.3 |
| TP53INP1 | induction of apoptosis; apoptotic process; cell cycle arrest; response to stress | 8q22 |
| TP53INP2 | - | 20q11.22 |
| TP53RK | lipopolysaccharide biosynthetic process; protein phosphorylation | 20q13.2 |
| TP53TG1 | response to DNA damage stimulus; response to stress | 7q21.1 |
| TP53TG3C | - | 16p11.2 |
| TP53TG3D | - | 16p11.2 |
| TP63 | negative regulation of transcription from RNA polymerase II promoter; response to X-ray; cloacal septation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sympathetic nervous system development; anatomical structure formation involved in morphogenesis; smooth muscle tissue development; female genitalia morphogenesis; protein homotetramerization; urinary bladder development; negative regulation of transcription, DNA-dependent; prostatic bud formation; squamous basal epithelial stem cell differentiation involved in prostate gland acinus development; organ morphogenesis; cell aging; ectoderm and mesoderm interaction; pattern specification process; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; induction of apoptosis; tail morphogenesis; multicellular organismal aging; response to gamma radiation; embryonic limb morphogenesis; prostate gland development; polarized epithelia | 3q28 |
| TP73 | forebrain development; negative regulation of transcription from RNA polymerase II promoter; mitotic cell cycle G1/S transition DNA damage checkpoint; cerebrospinal fluid secretion; cellular response to UV; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; positive regulation of apoptotic process; negative regulation of JUN kinase activity; negative regulation of neuron apoptosis; negative regulation of neuron differentiation; positive regulation of cell size; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; digestive tract morphogenesis; neuron development; positive regulation of oligodendrocyte differentiation; protein tetramerization; response to gamma radiation; activation of MAPK activity; kidney development; release of cytochrome c from mitochondria; mismatch repair; regulation of transcription, DNA-dependent; inflammatory response; response to DNA damage stimulus; DNA damage respo | 1p36.3 |
| TP73-AS1 | - | 1p36.32 |
| TPBG | cell adhesion | 6q14-q15 |
| TPBGL | - | 11q13.4 |
| TPCN1 | ion transport; transmembrane transport | 12q24.13 |
| TPCN2 | transmembrane transport; cellular calcium ion homeostasis; regulation of calcium ion transport via voltage-gated calcium channel activity; release of sequestered calcium ion into cytosol; smooth muscle contraction; ion transport | 11q13.3 |
| TPD52 | B cell differentiation; secretion; anatomical structure morphogenesis | 8q21 |
| TPD52L1 | G2/M transition of mitotic cell cycle; DNA fragmentation involved in apoptotic nuclear change; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of MAP kinase activity; positive regulation of JNK cascade | 6q22-q23 |
| TPD52L2 | regulation of cell proliferation | 20q13.2-q13.3 |
| TPD52L3 | - | 9p24.1 |
| TPGS1 | sperm axoneme assembly; spermatogenesis; cell differentiation; adult behavior; multicellular organismal development | 19p13.3 |
| TPGS2 | - | 18q12.2 |
| TPH1 | aromatic amino acid family metabolic process; mammary gland alveolus development; bone remodeling; indolalkylamine biosynthetic process; small molecule metabolic process; serotonin biosynthetic process; cellular nitrogen compound metabolic process; response to stress | 11p15.3-p14 |
| TPH2 | cellular response to lithium ion; response to calcium ion; response to glucocorticoid stimulus; aromatic amino acid family metabolic process; indolalkylamine biosynthetic process; small molecule metabolic process; response to estrogen stimulus; serotonin biosynthetic process; cellular nitrogen compound metabolic process; circadian rhythm; response to nutrient levels; response to stress; response to activity | 12q21.1 |
| TPI1 | carbohydrate metabolic process; small molecule metabolic process; glyceraldehyde-3-phosphate metabolic process; embryo development; pentose-phosphate shunt; glycolysis; gluconeogenesis; glucose metabolic process | 12p13 |
| TPI1P1 | - | 1p31.1 |
| TPI1P2 | - | 7q32.1 |
| TPI1P3 | - | 6q22.1 |
| TPK1 | vitamin metabolic process; small molecule metabolic process; thiamine-containing compound metabolic process; thiamine diphosphate biosynthetic process; thiamine metabolic process; water-soluble vitamin metabolic process | 7q34-q35 |
| TPM1 | sarcomere organization; wound healing; positive regulation of cell adhesion; positive regulation of stress fiber assembly; ventricular cardiac muscle tissue morphogenesis; cardiac muscle contraction; positive regulation of heart rate by epinephrine; cellular component movement; muscle contraction; regulation of muscle contraction; cytoskeleton organization; regulation of heart contraction; muscle filament sliding; negative regulation of cell migration; ruffle organization; positive regulation of ATPase activity; cellular response to reactive oxygen species | 15q22.1 |
| TPM2 | muscle contraction; muscle filament sliding; regulation of ATPase activity | 9p13 |
| TPM3 | cellular component movement; muscle filament sliding; regulation of muscle contraction; muscle contraction | 1q21.2 |
| TPM3P1 | - | 7q31.3 |
| TPM3P4 | - | 7p15.2 |
| TPM3P5 | - | 19q13.2 |
| TPM3P6 | - | 19q13.42 |
| TPM3P7 | - | 2p24.1 |
| TPM3P8 | - | 2q37.1 |
| TPM3P9 | - | 19q13.42 |
| TPM4 | cellular component movement; muscle contraction; response to oxidative stress; muscle filament sliding | 19p13.1 |
| TPM4P1 | - | 10q24.2 |
| TPMT | xenobiotic metabolic process; small molecule metabolic process; methylation; nucleobase-containing compound metabolic process | 6p22.3 |
| TPMTP1 | - | 18q21.1 |
| TPO | thyroid hormone generation; response to oxidative stress; cellular nitrogen compound metabolic process; embryonic hemopoiesis; hormone biosynthetic process; hydrogen peroxide catabolic process; small molecule metabolic process | 2p25 |
| TPP1 | nervous system development; proteolysis; lipid metabolic process; activation of signaling protein activity involved in unfolded protein response; lysosome organization; neuromuscular process controlling balance; bone resorption; peptide catabolic process; endoplasmic reticulum unfolded protein response; protein catabolic process; cell death | 11p15 |
| TPP2 | protein polyubiquitination; proteolysis; antigen processing and presentation of peptide antigen via MHC class I | 13q32-q33 |
| TPPP | positive regulation of protein complex assembly; microtubule bundle formation; positive regulation of protein polymerization; microtubule polymerization | 5p15.3 |
| TPPP2 | - | 14q11.2 |
| TPPP3 | microtubule bundle formation | 16q22.1 |
| TPR | regulation of glucose transport; transmembrane transport; mRNA transport; small molecule metabolic process; cytokine-mediated signaling pathway; viral reproduction; glucose transport; protein transport; hexose transport; mitotic cell cycle spindle assembly checkpoint; protein import into nucleus; seryl-tRNA aminoacylation; carbohydrate metabolic process | 1q25 |
| TPRA1 | lipid metabolic process; aging; G-protein coupled receptor signaling pathway | 3q21.2 |
| TPRG1 | - | 3q28 |
| TPRG1L | - | 1p36.32 |
| TPRKB | protein catabolic process | 2p24.3-p24.1 |
| TPRN | sensory perception of sound | 9q34.3 |
| TPRX1P1 | - | 10q22.3 |
| TPRXL | - | 3p25.1 |
| TPSAB1 | proteolysis; defense response | 16p13.3 |
| TPSB2 | proteolysis | 16p13.3 |
| TPSP2 | - | 16p13.3 |
| TPST1 | inflammatory response; peptidyl-tyrosine sulfation | 7q11.21 |
| TPST2 | peptidyl-tyrosine sulfation | 22q12.1 |
| TPT1 | negative regulation of ectoderm development; regulation of apoptotic process; stem cell maintenance; response to virus; cellular calcium ion homeostasis; calcium ion transport; anti-apoptosis | 13q14 |
| TPT1-AS1 | - | 13q14.13 |
| TPT1P1 | - | 21q22.11 |
| TPTE | protein dephosphorylation; ion transport; signal transduction; peptidyl-tyrosine dephosphorylation; transmembrane transport | 21p11 |
| TPTE2 | transmembrane transport; ion transport | 13q12.11 |
| TPTE2P1 | - | 13q12.13 |
| TPTE2P4 | - | Yq11.23 |
| TPTE2P5 | - | 13q14.11 |
| TPTE2P6 | - | 13q12.12 |
| TPTEP1 | - | 22q11.1 |
| TPX2 | mitosis; cell division; regulation of mitotic spindle organization; apoptotic process; cell cycle; cell proliferation; activation of protein kinase activity | 20q11.2 |
| TRA2A | nuclear mRNA splicing, via spliceosome; RNA splicing | 7p15.3 |
| TRA2B | nuclear mRNA splicing, via spliceosome; regulation of alternative nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions; response to reactive oxygen species; positive regulation of nuclear mRNA splicing, via spliceosome | 3q26.2-q27 |
| TRABD | - | 22q13.33 |
| TRABD2A | - | 2p11.2 |
| TRABD2B | - | 1p33 |
| TRAC | T cell receptor signaling pathway; regulation of immune response; cellular defense response; T cell costimulation | 14q11 |
| TRADD | signal transduction; induction of apoptosis; induction of apoptosis by extracellular signals; activation of pro-apoptotic gene products; tumor necrosis factor-mediated signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of hair follicle development; extrinsic apoptotic signaling pathway; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process | 16q22 |
| TRAF1 | protein complex assembly; positive regulation of NF-kappaB transcription factor activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; signal transduction | 9q33-q34 |
| TRAF2 | regulation of apoptotic process; positive regulation of JUN kinase activity; cellular protein complex assembly; innate immune response; positive regulation of T cell activation; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of NF-kappaB transcription factor activity; protein homotrimerization; protein K63-linked ubiquitination; positive regulation of extrinsic apoptotic signaling pathway; protein autoubiquitination; positive regulation of interleukin-2 production; positive regulation of T cell cytokine production; protein complex assembly; apoptotic process; tumor necrosis factor-mediated signaling pathway; activation of cysteine-type endopeptidase activity involved in apoptotic process; signal transduction; activation of NF-kappaB-inducing kinase activity; induction of apoptosis by extracellular signals; activation of pro-apoptotic gene products | 9q34 |
| TRAF3 | induction of apoptosis; regulation of defense response to virus; innate immune response; regulation of apoptotic process; tumor necrosis factor-mediated signaling pathway; regulation of interferon-beta production; negative regulation of type I interferon production; negative regulation of NF-kappaB transcription factor activity; regulation of proteolysis; signal transduction; toll-like receptor signaling pathway; regulation of cytokine production | 14q32.32 |
| TRAF3IP1 | - | 2q37.3 |
| TRAF3IP2 | positive regulation of I-kappaB kinase/NF-kappaB cascade; intracellular signal transduction | 6q21 |
| TRAF3IP2-AS1 | - | 6q21 |
| TRAF3IP3 | - | 1q32 |
| TRAF4 | positive regulation of protein homodimerization activity; positive regulation of JNK cascade; positive regulation of protein kinase activity; regulation of apoptotic process; respiratory tube development; respiratory gaseous exchange; multicellular organismal development; signal transduction | 17q11-q12 |
| TRAF5 | regulation of apoptotic process; positive regulation of NF-kappaB transcription factor activity; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of cell proliferation; signal transduction | 1q32 |
| TRAF6 | toll-like receptor 3 signaling pathway; Toll signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of JUN kinase activity; positive regulation of transcription regulatory region DNA binding; innate immune response; positive regulation of osteoclast differentiation; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; T cell receptor signaling pathway; positive regulation of T cell activation; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of NF-kappaB transcription factor activity; stress-activated MAPK cascade; protein autoubiquitination; nucleotide-binding oligomerization domain contai | 11p12 |
| TRAF7 | protein ubiquitination; activation of MAPKKK activity; positive regulation of MAPK cascade; regulation of apoptotic process; regulation of transcription, DNA-dependent; apoptotic process | 16p13.3 |
| TRAFD1 | negative regulation of innate immune response; response to cytokine stimulus | 12q |
| TRAIP | induction of apoptosis; signal transduction; cell proliferation | 3p21.31 |
| TRAJ1 | - | 14q11 |
| TRAJ11 | - | 14q11 |
| TRAJ13 | - | 14q11 |
| TRAJ14 | - | 14q11 |
| TRAJ17 | - | 14q11 |
| TRAJ22 | - | 14q11 |
| TRAJ23 | - | 14q11 |
| TRAJ25 | - | 14q11 |
| TRAJ30 | - | 14q11 |
| TRAJ31 | - | 14q11 |
| TRAJ38 | - | 14q11 |
| TRAJ45 | - | 14q11 |
| TRAJ46 | - | 14q11 |
| TRAJ47 | - | 14q11 |
| TRAJ5 | - | 14q11 |
| TRAJ51 | - | 14q11 |
| TRAJ55 | - | 14q11 |
| TRAJ56 | - | 14q11 |
| TRAJ59 | - | 14q11 |
| TRAJ61 | - | 14q11 |
| TRAJ7 | - | 14q11 |
| TRAJ9 | - | 14q11 |
| TRAK1 | protein targeting; endosome to lysosome transport; protein O-linked glycosylation; regulation of transcription from RNA polymerase II promoter | 3p22.1 |
| TRAK2 | protein O-linked glycosylation; transport; protein targeting; regulation of transcription from RNA polymerase II promoter | 2q33 |
| TRAM1 | SRP-dependent cotranslational protein targeting to membrane; gene expression; protein transport; cotranslational protein targeting to membrane; cellular protein metabolic process; translation | 8q13.3 |
| TRAM1L1 | protein transport | 4q26 |
| TRAM2 | collagen biosynthetic process; protein transport | 6p21.1-p12 |
| TRAM2-AS1 | - | 6p12.3 |
| TRANK1 | - | 3p22.2 |
| TRAP1 | cellular response to oxidative stress; response to stress; protein folding | 16p13.3 |
| TRAPPC1 | ER to Golgi vesicle-mediated transport; vesicle-mediated transport | 17p13.1 |
| TRAPPC10 | sodium ion export; vesicle-mediated transport; sodium ion transport | 21q22.3 |
| TRAPPC11 | vesicle-mediated transport | 4q35.1 |
| TRAPPC12 | vesicle-mediated transport | 2p25.3 |
| TRAPPC13 | - | 5q12.3 |
| TRAPPC2 | vesicle-mediated transport; ER to Golgi vesicle-mediated transport; regulation of transcription, DNA-dependent; skeletal system development | Xp22 |
| TRAPPC2L | vesicle-mediated transport; ER to Golgi vesicle-mediated transport | 16q24.3 |
| TRAPPC3 | ER to Golgi vesicle-mediated transport; vesicle-mediated transport | 1p34.3 |
| TRAPPC3L | - | 6q22.1 |
| TRAPPC4 | dendrite development; vesicle-mediated transport; ER to Golgi vesicle-mediated transport | 11q23.3 |
| TRAPPC5 | vesicle-mediated transport | 19p13.2 |
| TRAPPC6A | vesicle-mediated transport | 19q13.32 |
| TRAPPC6B | vesicle-mediated transport | 14q21.1 |
| TRAPPC8 | vesicle-mediated transport; ER to Golgi vesicle-mediated transport | 18q12.1 |
| TRAPPC9 | cell differentiation | 8q24.3 |
| TRAT1 | negative regulation of transport; T cell receptor signaling pathway; positive regulation of calcium-mediated signaling; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; cellular defense response; negative regulation of receptor recycling; positive regulation of T cell receptor signaling pathway | 3q13 |
| TRAV1-1 | - | 14q11 |
| TRAV10 | - | 14q11 |
| TRAV13-1 | - | 14q11 |
| TRAV15 | - | 14q11 |
| TRAV17 | - | 14q11 |
| TRAV22 | - | 14q11 |
| TRAV25 | - | 14q11 |
| TRAV29DV5 | - | 14q11 |
| TRAV34 | - | 14q11 |
| TRAV36DV7 | - | 14q11 |
| TRAV39 | - | 14q11 |
| TRAV4 | - | 14q11 |
| TRAV40 | - | 14q11 |
| TRAV6 | - | 14q11 |
| TRAV8-1 | - | 14q11 |
| TRAV8-2 | - | 14q11 |
| TRBC1 | immune response; T cell costimulation; regulation of immune response; T cell receptor signaling pathway | 7q34 |
| TRBJ2-2P | - | 7q34 |
| TRBV1 | - | 7q34 |
| TRBV10-1 | - | 7q34 |
| TRBV12-2 | - | 7q34 |
| TRBV19 | - | 7q34 |
| TRBV2 | - | 7q34 |
| TRBV20OR9-2 | - | 9p21 |
| TRBV22-1 | - | 7q34 |
| TRBV24-1 | - | 7q34 |
| TRBV25-1 | - | 7q34 |
| TRBV25OR9-2 | - | 9p21 |
| TRBV27 | - | 7q34 |
| TRBV3-1 | - | 7q34 |
| TRBV30 | - | 7q34 |
| TRBV4-1 | - | 7q34 |
| TRBV4-2 | - | 7q34 |
| TRBV5-1 | - | 7q34 |
| TRBV5-2 | - | 7q34 |
| TRBV5-4 | - | 7q34 |
| TRBV6-1 | - | 7q34 |
| TRBV6-4 | - | 7q34 |
| TRBV6-5 | - | 7q34 |
| TRBV6-8 | - | 7q34 |
| TRBV7-2 | - | 7q34 |
| TRD | - | 14q11.2 |
| TRDJ4 | - | 14q11.2 |
| TRDMT1 | response to amphetamine; DNA methylation; tRNA processing; C-5 methylation of cytosine | 10p15.1 |
| TRDN | muscle contraction | 6q22.31 |
| TRDV1 | - | 14q11 |
| TREH | carbohydrate metabolic process; trehalose metabolic process; trehalose catabolic process; polysaccharide digestion; small molecule metabolic process | 11q23.3 |
| TREM1 | leukocyte migration; humoral immune response; blood coagulation; intracellular signal transduction | 6p21.1 |
| TREM2 | axon guidance; humoral immune response | 6p21.1 |
| TREML2 | T cell activation | 6p21.1 |
| TREML3P | - | 6p21.1 |
| TREML4 | - | 6p21.1 |
| TREML5P | - | 6p21.1 |
| TRERF1 | multicellular organismal development; regulation of hormone biosynthetic process; positive regulation of transcription, DNA-dependent; homeostatic process; cholesterol catabolic process; steroid biosynthetic process | 6p21.1-p12.1 |
| TRERNA1 | - | 20q13 |
| TRG-AS1 | - | 7p14 |
| TRGC2 | immune response | 7p14 |
| TRGV11 | - | 7p14 |
| TRGV2 | - | 7p14 |
| TRGV3 | immune response | 7p14 |
| TRGV5P | - | 7p14 |
| TRGVB | - | 7p14 |
| TRHDE | cell-cell signaling; signal transduction; proteolysis | 12q15-q21 |
| TRHDE-AS1 | - | 12q21.1 |
| TRHR | G-protein coupled receptor signaling pathway | 8q23 |
| TRIAP1 | anti-apoptosis; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; DNA damage response, signal transduction by p53 class mediator; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 12q24.31 |
| TRIAP1P1 | - | 10p12.1 |
| TRIB1 | response to lipopolysaccharide; negative regulation of smooth muscle cell migration; JNK cascade; negative regulation of protein kinase activity; protein phosphorylation; negative regulation of lipopolysaccharide-mediated signaling pathway; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of smooth muscle cell proliferation; negative regulation of sequence-specific DNA binding transcription factor activity; regulation of MAP kinase activity | 8q24.13 |
| TRIB2 | negative regulation of fat cell differentiation; negative regulation of interleukin-10 biosynthetic process; regulation of MAP kinase activity; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of protein kinase activity; protein phosphorylation | 2p24.3 |
| TRIB3 | positive regulation of protein binding; regulation of transcription, DNA-dependent; negative regulation of protein kinase activity; response to stress; positive regulation of ubiquitin-protein ligase activity; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; negative regulation of fatty acid biosynthetic process; negative regulation of fat cell differentiation; small molecule metabolic process; cellular lipid metabolic process; cellular response to insulin stimulus; apoptotic process; epidermal growth factor receptor signaling pathway; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; regulation of glucose transport; regulation of MAP kinase activity | 20p13-p12.2 |
| TRIL | innate immune response; regulation of cytokine production involved in immune response; inflammatory response; toll-like receptor 4 signaling pathway | 7p14.3 |
| TRIM10 | erythrocyte differentiation | 6p21.3 |
| TRIM11 | response to virus | 1q42.13 |
| TRIM13 | protein autoubiquitination; proteasomal ubiquitin-dependent protein catabolic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction; ER-associated protein catabolic process; anatomical structure morphogenesis | 13q14 |
| TRIM14 | - | 9q22.33 |
| TRIM15 | mesodermal cell fate determination | 6p21.3 |
| TRIM16 | response to retinoic acid; histone H3 acetylation; histone H4 acetylation; positive regulation of keratinocyte differentiation; positive regulation of transcription, DNA-dependent; response to organophosphorus; positive regulation of retinoic acid receptor signaling pathway; positive regulation of interleukin-1 beta secretion; response to growth hormone stimulus | 17p11.2 |
| TRIM17 | protein autoubiquitination | 1q42 |
| TRIM2 | protein ubiquitination; neuroprotection | 4q31.3 |
| TRIM21 | negative regulation of protein deubiquitination; protein trimerization; protein autoubiquitination; positive regulation of cell cycle; negative regulation of NF-kappaB transcription factor activity; protein destabilization; protein ubiquitination; protein monoubiquitination; protein polyubiquitination | 11p15.5 |
| TRIM22 | protein trimerization; interspecies interaction between organisms; regulation of transcription, DNA-dependent; immune response; response to virus | 11p15 |
| TRIM23 | small GTPase mediated signal transduction; GTP catabolic process; protein ADP-ribosylation; protein ubiquitination; positive regulation of catalytic activity; interspecies interaction between organisms | 5q12.3 |
| TRIM24 | protein ubiquitination; protein catabolic process; regulation of protein stability; regulation of apoptotic process; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; protein autophosphorylation; calcium ion homeostasis; regulation of vitamin D receptor signaling pathway; cellular response to estrogen stimulus; transcription from RNA polymerase II promoter; negative regulation of cell proliferation | 7q32-q34 |
| TRIM25 | innate immune response; interspecies interaction between organisms; negative regulation of type I interferon production; response to virus; regulation of transcription, DNA-dependent | 17q23.2 |
| TRIM26 | - | 6p21.3 |
| TRIM27 | protein trimerization; negative regulation of transcription from RNA polymerase II promoter; negative regulation of gene expression, epigenetic; cell proliferation; regulation of transcription, DNA-dependent; spermatogenesis | 6p22 |
| TRIM28 | protein ubiquitination; gene expression; protein sumoylation; positive regulation of DNA repair; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; protein autophosphorylation; protein oligomerization; DNA repair; negative regulation of transcription from RNA polymerase II promoter; epithelial to mesenchymal transition | 19q13.4 |
| TRIM29 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 11q23.3 |
| TRIM3 | nervous system development; protein transport | 11p15.5 |
| TRIM31 | - | 6p21.3 |
| TRIM32 | negative regulation of fibroblast proliferation; positive regulation of neurogenesis; positive regulation of proteolysis; positive regulation of cell cycle; positive regulation of protein catabolic process; positive regulation of neuron differentiation; fat cell differentiation; innate immune response; negative regulation of apoptotic process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; response to tumor necrosis factor; positive regulation of cell migration; positive regulation of cell growth; protein ubiquitination; response to UV; protein polyubiquitination; positive regulation of cell motility; positive regulation of NF-kappaB transcription factor activity | 9q33.1 |
| TRIM33 | negative regulation of transcription, DNA-dependent; negative regulation of BMP signaling pathway; regulation of transforming growth factor beta receptor signaling pathway; protein ubiquitination | 1p13.1 |
| TRIM34 | protein trimerization | 11p15 |
| TRIM35 | negative regulation of cell proliferation; positive regulation of apoptotic process; negative regulation of mitotic cell cycle; induction of apoptosis | 8p21.2 |
| TRIM36 | acrosome reaction | 5q22.3 |
| TRIM37 | - | 17q23.2 |
| TRIM38 | signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 6p21.3 |
| TRIM39 | apoptotic process | 6p21.3 |
| TRIM4 | protein trimerization | 7q22-q31.1 |
| TRIM40 | - | 6p22.1 |
| TRIM41 | - | 5q35.3 |
| TRIM43 | - | 2q11.1 |
| TRIM44 | - | 11p13 |
| TRIM45 | - | 1p13.1 |
| TRIM46 | - | 1q22 |
| TRIM47 | - | 17q25 |
| TRIM48 | - | 11q11 |
| TRIM49 | - | 11p11.12-q12 |
| TRIM49C | - | 11q14.3 |
| TRIM5 | response to virus; interspecies interaction between organisms; protein trimerization | 11p15 |
| TRIM51 | - | 11q11 |
| TRIM51CP | - | 11p11.12 |
| TRIM51EP | - | 11q14.3 |
| TRIM51FP | - | 11p11.12 |
| TRIM51GP | - | 11p11.12 |
| TRIM51HP | - | 11q11 |
| TRIM51JP | - | 2q11.1 |
| TRIM52 | - | 5q35.3 |
| TRIM52-AS1 | - | - |
| TRIM53AP | - | 11q14.3 |
| TRIM53CP | - | 11p11.12 |
| TRIM54 | cell differentiation; multicellular organismal development; signal transduction; negative regulation of microtubule depolymerization; microtubule-based process | 2p23.3 |
| TRIM55 | signal transduction | 8q13.1 |
| TRIM56 | interferon-beta production; response to type I interferon; defense response to virus; protein K63-linked ubiquitination | 7q22.1 |
| TRIM58 | - | 1q44 |
| TRIM59 | - | 3q25.33 |
| TRIM6 | protein trimerization | 11p15.4 |
| TRIM6-TRIM34 | - | 11p15 |
| TRIM60 | - | 4q32.3 |
| TRIM60P13 | - | 13q31.2 |
| TRIM60P14 | - | 4q32.3 |
| TRIM61 | - | 4q32.3 |
| TRIM62 | - | 1p35.1 |
| TRIM63 | signal transduction; proteasomal ubiquitin-dependent protein catabolic process | 1p34-p33 |
| TRIM64 | - | 11q14.3 |
| TRIM64EP | - | 11q14.3 |
| TRIM65 | - | 17q25.1 |
| TRIM66 | - | 11p15.4 |
| TRIM67 | - | 1q42.2 |
| TRIM68 | protein autoubiquitination; regulation of androgen receptor signaling pathway | 11p15.4 |
| TRIM69 | apoptotic process | 15q21.1 |
| TRIM7 | - | 5q35.3 |
| TRIM71 | cellular response to organic substance; multicellular organismal development | 3p22.3 |
| TRIM72 | plasma membrane repair; exocytosis; transport; muscle organ development; protein homooligomerization; muscle system process | 16p11.2 |
| TRIM73 | - | 7q11.23 |
| TRIM77 | - | 11q14.3 |
| TRIM78P | - | 11p15 |
| TRIM8 | - | 10q24.3 |
| TRIM9 | protein ubiquitination; proteasomal ubiquitin-dependent protein catabolic process | 14q22.1 |
| TRIML2 | - | 4q35.2 |
| TRIO | regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; induction of apoptosis by extracellular signals; axon guidance; small GTPase mediated signal transduction; transmembrane receptor protein tyrosine phosphatase signaling pathway; apoptotic process | 5p15.2 |
| TRIOBP | barbed-end actin filament capping; actin modification | 22q13.1 |
| TRIP10 | endocytosis; regulation of small GTPase mediated signal transduction; actin cytoskeleton organization; small GTPase mediated signal transduction; signal transduction; cell communication | 19p13.3 |
| TRIP11 | transcription from RNA polymerase II promoter; protein targeting to Golgi | 14q31-q32 |
| TRIP12 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein ubiquitination; protein modification process | 2q36.3 |
| TRIP13 | meiosis; pachytene; oocyte maturation; double-strand break repair; male meiosis I; transcription from RNA polymerase II promoter; oogenesis; cell differentiation; spermatid development; reciprocal meiotic recombination; female meiosis I; synaptonemal complex assembly; spermatogenesis | 5p15.33 |
| TRIP4 | transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent | 15q22.31 |
| TRIP6 | release of cytoplasmic sequestered NF-kappaB; focal adhesion assembly; positive regulation of cell migration; cell adhesion; regulation of transcription, DNA-dependent | 7q22 |
| TRIQK | - | 8q22.1 |
| TRIT1 | tRNA processing | 1p34.2 |
| TRMO | interspecies interaction between organisms | 9q22.33 |
| TRMT1 | tRNA processing | 19p13.2 |
| TRMT10A | - | 4q23 |
| TRMT10B | - | 9p13.2 |
| TRMT10C | - | 3q12.3 |
| TRMT11 | tRNA processing | 6q11.1-q22.33 |
| TRMT112 | peptidyl-glutamine methylation | 11q13.1 |
| TRMT12 | tRNA processing | 8q24.13 |
| TRMT13 | - | 1p21.2 |
| TRMT1L | behavior; tRNA processing | 1q25.2 |
| TRMT2A | RNA processing | 22q11.21 |
| TRMT2B | tRNA processing | Xq22.1 |
| TRMT44 | - | 4p16.1 |
| TRMT5 | tRNA processing | 14q23.1 |
| TRMT6 | tRNA processing; regulation of translational initiation | 20p12.3 |
| TRMT61A | tRNA methylation; tRNA processing | 14q32 |
| TRMT61B | tRNA processing; tRNA methylation | 2p23.2 |
| TRMU | tRNA processing; tRNA metabolic process | 22q13 |
| TRNA | - | - |
| TRNAE31P | - | 2q11.1 |
| TRNAE39P | - | 13q21.1 |
| TRNAE41P | - | 2p13.3 |
| TRNAI2 | - | - |
| TRNAI30P | - | 20q13.2 |
| TRNAI6 | - | - |
| TRNAK38P | - | 19q13.2 |
| TRNAN34P | - | 1q21.2 |
| TRNAQ38P | - | 10p12.31 |
| TRNAS30P | - | 17p11.2 |
| TRNASUP6P | - | 14q24.3 |
| TRNAU1AP | selenocysteine incorporation; translation | 1p35.3 |
| TRNAV33P | - | 20q13.12 |
| TRNAV37P | - | 6q25.3 |
| TRNC | - | - |
| TRND | - | - |
| TRNE | - | - |
| TRNF | - | - |
| TRNG | - | - |
| TRNH | - | - |
| TRNI | - | - |
| TRNK | - | - |
| TRNL1 | - | - |
| TRNL2 | - | - |
| TRNM | - | - |
| TRNN | - | - |
| TRNP1 | cell cycle | 1p36.11 |
| TRNQ | - | - |
| TRNR | - | - |
| TRNS2 | - | - |
| TRNT1 | tRNA 3'-end processing; RNA processing; protein targeting to mitochondrion | 3p25.1 |
| TRNV | - | - |
| TRNW | - | - |
| TRNY | - | - |
| TRO | cell adhesion; homophilic cell adhesion; embryo implantation; negative regulation of cell growth | Xp11.22-p11.21 |
| TROAP | cell adhesion | 12q13.12 |
| TROVE2 | transcription from RNA polymerase III promoter | 1q31 |
| TRPA1 | response to drug; ion transport; response to cold; detection of chemical stimulus involved in sensory perception of pain; detection of mechanical stimulus involved in sensory perception of pain; thermoception; response to hydrogen peroxide; response to pain; response to stimulus | 8q13 |
| TRPC1 | positive regulation of release of sequestered calcium ion into cytosol; cytosolic calcium ion homeostasis; response to calcium ion; transmembrane transport; calcium ion transmembrane transport; ion transport; calcium ion transport; axon guidance | 3q23 |
| TRPC2 | - | 11p15.4-p15.3 |
| TRPC3 | calcium ion transport; transmembrane transport; calcium ion transmembrane transport; platelet activation; phototransduction; blood coagulation; axon guidance; ion transport | 4q27 |
| TRPC4 | axon guidance; calcium ion import; transmembrane transport; calcium ion transport; ion transport | 13q13.3 |
| TRPC4AP | protein ubiquitination; ubiquitin-dependent protein catabolic process | 20q11.22 |
| TRPC5 | ion transport; calcium ion transport; nervous system development; axon guidance; transmembrane transport; calcium ion transmembrane transport | Xq23 |
| TRPC5OS | - | - |
| TRPC6 | axon guidance; blood coagulation; platelet activation; elevation of cytosolic calcium ion concentration; positive regulation of calcium ion transport via store-operated calcium channel activity; positive regulation of ion transmembrane transporter activity; cation transport | 11q22.1 |
| TRPC6P | - | Xq28;Yq12 |
| TRPC7 | ion transport; manganese ion transport; transmembrane transport; platelet activation; blood coagulation; axon guidance | 5q31.1 |
| TRPM1 | cellular response to light stimulus; calcium ion transmembrane transport; transmembrane transport; response to stimulus; visual perception; ion transport; transport | 15q13.3 |
| TRPM2 | ion transport; calcium ion transport; response to hydroperoxide; transmembrane transport; calcium ion transmembrane transport | 21q22.3 |
| TRPM2-AS | - | - |
| TRPM3 | cation transport; transmembrane transport | 9q21.12 |
| TRPM4 | ion transport; positive regulation of cell proliferation; protein sumoylation; transmembrane transport; positive regulation of canonical Wnt receptor signaling pathway; dendritic cell chemotaxis; regulation of T cell cytokine production | 19q13.33 |
| TRPM5 | ion transport | 11p15.5 |
| TRPM6 | transmembrane transport; protein phosphorylation; ion transport; metal ion transport; response to toxin | 9q21.13 |
| TRPM7 | calcium-dependent cell-matrix adhesion; actomyosin structure organization; protein autophosphorylation; transmembrane transport; cell death; ion transport | 15q21 |
| TRPM8 | transmembrane transport; protein homotrimerization; protein homotetramerization; response to cold; thermoception; response to stimulus; ion transport; cellular calcium ion homeostasis | 2q37.1 |
| TRPS1 | regulation of chondrocyte differentiation; NLS-bearing substrate import into nucleus; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; skeletal system development | 8q24.12 |
| TRPT1 | tRNA splicing, via endonucleolytic cleavage and ligation | 11q13.1 |
| TRPV1 | sensory perception of mechanical stimulus; behavioral response to pain; glutamate secretion; catagen; positive regulation of apoptotic process; response to peptide hormone stimulus; positive regulation of nitric oxide biosynthetic process; response to heat; thermoception; detection of chemical stimulus involved in sensory perception of pain; smooth muscle contraction involved in micturition; negative regulation of establishment of blood-brain barrier; elevation of cytosolic calcium ion concentration; cellular response to temperature stimulus; cellular response to growth factor stimulus; calcium ion transmembrane transport; positive regulation of gastric acid secretion; chemosensory behavior; response to pH; temperature homeostasis; fever generation; microglial cell activation; diet induced thermogenesis; peptide secretion; lipid metabolic process; transport; cell surface receptor signaling pathway | 17p13.2 |
| TRPV2 | positive regulation of axon extension; response to temperature stimulus; sensory perception; transport; response to heat; ion transmembrane transport; positive regulation of calcium ion import | 17p11.2 |
| TRPV3 | response to temperature stimulus; cation transport | 17p13.2 |
| TRPV4 | negative regulation of neuron projection development; calcium ion transport; response to mechanical stimulus; positive regulation of microtubule depolymerization; actin cytoskeleton reorganization; cortical microtubule organization; microtubule polymerization; transmembrane transport; calcium ion import; calcium ion transmembrane transport; cellular hypotonic response; cell death; osmosensory signaling pathway; elevation of cytosolic calcium ion concentration; cell-cell junction assembly; actin filament organization; cell volume homeostasis; cellular calcium ion homeostasis; ion transport | 12q24.1 |
| TRPV5 | transmembrane transport; protein tetramerization; calcium ion transport; ion transport; calcium ion transmembrane transport | 7q35 |
| TRPV6 | regulation of calcium ion-dependent exocytosis; transmembrane transport; calcium ion transmembrane transport; calcium ion transport; ion transport | 7q34 |
| TRRAP | histone H4 acetylation; histone H2A acetylation; histone deubiquitination; histone acetylation; chromatin modification; regulation of transcription, DNA-dependent | 7q21.2-q22.1 |
| TRUB1 | tRNA processing; pseudouridine synthesis; RNA processing | 10q25.3 |
| TRUB2 | pseudouridine synthesis; RNA processing; tRNA processing | 9q34.11 |
| TSACC | - | 1q22 |
| TSC1 | embryo development; kidney development; neural tube closure; regulation of cell-matrix adhesion; rRNA export from nucleus; regulation of translation; potassium ion transport; cell cycle arrest; cell-matrix adhesion; nervous system development; negative regulation of cell proliferation; insulin receptor signaling pathway; cardiac muscle cell differentiation; positive regulation of focal adhesion assembly; regulation of stress fiber assembly; protein heterooligomerization; protein stabilization; synapse organization; regulation of protein kinase activity; negative regulation of cell size; regulation of phosphoprotein phosphatase activity; regulation of actin cytoskeleton organization; response to insulin stimulus; activation of Rho GTPase activity; negative regulation of TOR signaling cascade; cell projection organization; cerebral cortex development; hippocampus development; negative regulation of translation; myelination | 9q34 |
| TSC2 | negative regulation of epithelial cell proliferation; positive chemotaxis; regulation of small GTPase mediated signal transduction; protein homooligomerization; protein heterooligomerization; regulation of cell cycle; negative regulation of protein kinase B signaling cascade; response to hypoxia; negative regulation of protein kinase activity; negative regulation of cell proliferation; protein kinase B signaling cascade; negative regulation of MAP kinase activity; negative regulation of TOR signaling cascade; negative regulation of Wnt receptor signaling pathway; regulation of endocytosis; cell projection organization; vesicle-mediated transport; negative regulation of phosphatidylinositol 3-kinase cascade; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; nerve growth factor receptor signaling pathway; protein localization; heart development; epidermal growth factor receptor signaling pathway; signal transduction; cell cycle arrest; acute-phase response; endocytosis; pr | 16p13.3 |
| TSC22D1 | transcription from RNA polymerase II promoter; negative regulation of apoptotic process; positive regulation of cell proliferation; positive regulation of apoptotic process | 13q14 |
| TSC22D1-AS1 | - | 13q14.11 |
| TSC22D2 | response to osmotic stress | 3q25.1 |
| TSC22D3 | body fluid secretion; regulation of transcription, DNA-dependent | Xq22.3 |
| TSC22D4 | negative regulation of transcription, DNA-dependent; response to osmotic stress; regulation of transcription, DNA-dependent | 7p21-p15 |
| TSEN15 | mRNA processing; tRNA processing | 1q25 |
| TSEN15P1 | - | 17p11.2 |
| TSEN2 | tRNA splicing, via endonucleolytic cleavage and ligation; mRNA processing | 3p25.2 |
| TSEN34 | mRNA processing; tRNA-type intron splice site recognition and cleavage | 19q13.4 |
| TSEN54 | tRNA splicing, via endonucleolytic cleavage and ligation; mRNA processing | 17q25.1 |
| TSFM | regulation of transcription elongation, DNA-dependent; translational elongation | 12q14.1 |
| TSG1 | - | 6q16.1 |
| TSG101 | negative regulation of cell proliferation; regulation of cell growth; protein modification process; protein monoubiquitination; cell cycle; cell cycle arrest; interspecies interaction between organisms; endosome to lysosome transport; protein transport; viral reproduction; cellular membrane organization; endosome transport; cell differentiation; keratinocyte differentiation; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; cell division; egress of virus within host cell; non-lytic virus budding; negative regulation of transcription, DNA-dependent | 11p15 |
| TSGA10 | cell projection assembly; spermatogenesis | 2q11.2 |
| TSGA10IP | - | 11q13.1 |
| TSGA13 | - | 7q32 |
| TSHR | regulation of locomotion; B cell differentiation; adult locomotory behavior; positive regulation of cell proliferation; cell-cell signaling; activation of adenylate cyclase activity by G-protein signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor signaling pathway; positive regulation of multicellular organism growth | 14q31 |
| TSHZ1 | middle ear morphogenesis; soft palate development; multicellular organismal development; anterior/posterior pattern specification | 18q22.3 |
| TSHZ2 | multicellular organismal development | 20q13.2 |
| TSHZ3 | negative regulation of transcription, DNA-dependent; multicellular organismal development; regulation of respiratory gaseous exchange by neurological system process | 19q12 |
| TSIX | - | Xq13.2 |
| TSKS | negative regulation of phosphatase activity | 19q13.3 |
| TSKU | - | 11q13.5 |
| TSL | - | 7p15.2 |
| TSLP | - | 5q22.1 |
| TSN | DNA recombination | 2q21.1 |
| TSNARE1 | vesicle-mediated transport | 8q24.3 |
| TSNAX | multicellular organismal development; spermatogenesis; protein transport; cell differentiation | 1q42.1 |
| TSNAXIP1 | cell differentiation; spermatogenesis; multicellular organismal development | 16q22.1 |
| TSPAN1 | - | 1p34.1 |
| TSPAN10 | - | 17q25.3 |
| TSPAN11 | - | 12p11.21 |
| TSPAN12 | cell surface receptor signaling pathway; retina layer formation; regulation of angiogenesis | 7q31.31 |
| TSPAN13 | - | 7p21.1 |
| TSPAN14 | - | 10q23.1 |
| TSPAN15 | - | 10q22.1 |
| TSPAN16 | - | 19p13.2 |
| TSPAN17 | protein ubiquitination | 5q35.3 |
| TSPAN18 | - | 11p11.2 |
| TSPAN19 | - | 12q21.31 |
| TSPAN2 | brain development | 1p13.2 |
| TSPAN3 | - | 15q24.3 |
| TSPAN31 | positive regulation of cell proliferation | 12q13.3 |
| TSPAN32 | cell-cell signaling | 11p15.5 |
| TSPAN33 | - | 7q32.1 |
| TSPAN4 | protein complex assembly | 11p15.5 |
| TSPAN5 | - | 4q23 |
| TSPAN6 | positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction | Xq22 |
| TSPAN7 | interspecies interaction between organisms | Xp11.4 |
| TSPAN8 | protein glycosylation; signal transduction; negative regulation of blood coagulation | 12q14.1-q21.1 |
| TSPAN9 | - | 12p13.33-p13.32 |
| TSPEAR | cell adhesion | 21q22.3 |
| TSPEAR-AS1 | - | 21q22.3 |
| TSPEAR-AS2 | - | 21q22.3 |
| TSPO | apoptotic process; positive regulation of necrotic cell death; response to vitamin B1; peripheral nervous system axon regeneration; adrenal gland development; regulation of cholesterol transport; response to progesterone stimulus; negative regulation of tumor necrosis factor production; response to testosterone stimulus; response to drug; positive regulation of apoptotic process; negative regulation of nitric oxide biosynthetic process; behavioral response to pain; response to axon injury; regulation of steroid biosynthetic process; positive regulation of mitochondrial depolarization; positive regulation of calcium ion transport; contact inhibition; positive regulation of glial cell proliferation; negative regulation of glial cell proliferation; cellular response to lipopolysaccharide; cellular response to zinc ion; cellular hypotonic response; positive regulation of reactive oxygen species metabolic process; glial cell migration; cell proliferation; steroid metabolic process; aging; response to stress; respo | 22q13.31 |
| TSPO2 | transport | 6p21.1 |
| TSPY1 | nucleosome assembly; multicellular organismal development; spermatogenesis; gonadal mesoderm development; sex differentiation; cell proliferation; cell differentiation | Yp11.2 |
| TSPY14P | - | Yq11.223 |
| TSPY23P | - | Yq11.223 |
| TSPY26P | nucleosome assembly | 20q11.21 |
| TSPYL1 | nucleosome assembly | 6q22.1 |
| TSPYL2 | negative regulation of cell growth; regulation of protein kinase activity; negative regulation of cell cycle; endoplasmic reticulum unfolded protein response; regulation of signal transduction; chromatin modification; nucleosome assembly; regulation of transcription, DNA-dependent; activation of signaling protein activity involved in unfolded protein response; negative regulation of DNA replication | Xp11.2 |
| TSPYL4 | nucleosome assembly | 6q22.1 |
| TSPYL5 | nucleosome assembly; positive regulation of cell proliferation; regulation of growth; positive regulation of protein ubiquitination; positive regulation of protein kinase B signaling cascade; cellular response to gamma radiation | 8q22.1 |
| TSPYL6 | nucleosome assembly | 2p16.2 |
| TSR1 | ribosome assembly | 17p13.3 |
| TSR2 | rRNA processing | Xp11.22 |
| TSR3 | - | 16p13.3 |
| TSSC1 | - | 2p25.3 |
| TSSC4 | - | 11p15.5 |
| TSSK1B | spermatid development; spermatogenesis; multicellular organismal development; cell differentiation; protein phosphorylation | 5q22.2 |
| TSSK3 | protein phosphorylation; cell differentiation; spermatogenesis; multicellular organismal development | 1p35-p34 |
| TSSK4 | positive regulation of CREB transcription factor activity; cell differentiation; spermatogenesis; multicellular organismal development; protein phosphorylation | 14q12 |
| TSSK5P1 | - | 8q24.3 |
| TSSK6 | protein phosphorylation; sperm chromatin condensation; spermatogenesis; multicellular organismal development; cell differentiation | 19p13.11 |
| TST | cyanate catabolic process; sulfur amino acid metabolic process; sulfur amino acid catabolic process; sulfide oxidation, using sulfide:quinone oxidoreductase; rRNA transport; small molecule metabolic process; rRNA import into mitochondrion; cellular nitrogen compound metabolic process | 22q13.1 |
| TSTA3 | cellular metabolic process; 'de novo' GDP-L-fucose biosynthetic process; GDP-mannose metabolic process; leukocyte cell-cell adhesion | 8q24.3 |
| TSTD1 | - | 1q23.3 |
| TSTD2 | - | 9q22.33 |
| TSTD3 | - | 6q16.2 |
| TTBK1 | - | 6p21.1 |
| TTBK2 | cell death; peptidyl-serine phosphorylation | 15q15.2 |
| TTC1 | protein folding | 5q33.3 |
| TTC12 | - | 11q23.2 |
| TTC13 | - | 1q42.2 |
| TTC14 | - | 3q26.33 |
| TTC16 | - | 9q34.11 |
| TTC17 | - | 11p11.2 |
| TTC19 | mitochondrial respiratory chain complex III assembly; cell cycle; cytokinesis | 17p12 |
| TTC21A | - | 3p22.2 |
| TTC21B | - | 2q24.3 |
| TTC22 | - | 1p32.3 |
| TTC23 | - | 15q26.3 |
| TTC23L | - | 5p13.2 |
| TTC24 | - | 1q23.1 |
| TTC25 | - | 17q21.2 |
| TTC26 | - | 7q34 |
| TTC27 | - | 2p22.3 |
| TTC28 | - | 22q12.1 |
| TTC28-AS1 | - | 22q12.1 |
| TTC29 | - | 4q31.22 |
| TTC3 | ubiquitin-dependent protein catabolic process; negative regulation of cell morphogenesis involved in differentiation; negative regulation of neuron differentiation; protein K48-linked ubiquitination | 21q22.2 |
| TTC3-AS1 | - | - |
| TTC30A | cell projection organization | 2q31.2 |
| TTC30B | cell projection organization | 2q31.2 |
| TTC31 | - | 2p13.1 |
| TTC32 | - | 2p24.1 |
| TTC33 | - | 5p13.1 |
| TTC34 | - | 1p36.32 |
| TTC36 | - | 11q23.3 |
| TTC37 | - | 5q15 |
| TTC38 | - | 22q13 |
| TTC39A | - | 1p32.3 |
| TTC39B | - | 9p22.3 |
| TTC39C | - | 18q11.2 |
| TTC39DP | - | 2p22.1 |
| TTC3P1 | - | Xq13.3 |
| TTC4 | - | 1p32.3 |
| TTC41P | - | 12q23.3 |
| TTC4P1 | - | 7p13 |
| TTC5 | DNA repair | 14q11.2 |
| TTC6 | - | 14q21.1 |
| TTC7A | hemopoiesis; cellular iron ion homeostasis | 2p21 |
| TTC7B | - | 14q32.11 |
| TTC8 | cilium assembly; establishment of anatomical structure orientation; sensory processing; cell projection organization | 14q31.3 |
| TTC9 | - | 14q24.2 |
| TTC9B | - | 19q13.2 |
| TTC9C | - | 11q12.3 |
| TTF1 | gene expression; negative regulation of DNA replication; termination of RNA polymerase I transcription; transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent; transcription termination, DNA-dependent; chromatin remodeling | 9q34.13 |
| TTF2 | regulation of transcription, DNA-dependent; termination of RNA polymerase II transcription; mRNA processing; RNA splicing; transcription termination, DNA-dependent | 1p22 |
| TTI1 | - | 20q11.23 |
| TTI2 | - | 8p12 |
| TTK | spindle organization; mitotic spindle organization; mitotic cell cycle spindle assembly checkpoint; positive regulation of cell proliferation; positive regulation of pathway-restricted SMAD protein phosphorylation | 6q13-q21 |
| TTL | metabolic process; regulation of axon extension; microtubule cytoskeleton organization; protein modification process | 2q13 |
| TTLL1 | protein modification process; protein polyglutamylation | 22q13.1 |
| TTLL10 | protein polyglycylation | 1p36.33 |
| TTLL10-AS1 | - | 1p36.33 |
| TTLL11 | protein modification process | 9q33.2 |
| TTLL11-IT1 | - | 9q33.2 |
| TTLL12 | protein modification process | 22q13.31 |
| TTLL13P | protein modification process | 15q26.1 |
| TTLL2 | protein modification process | 6q27 |
| TTLL3 | cilium assembly; protein polyglycylation; axoneme assembly | 3p25.3 |
| TTLL4 | protein polyglutamylation; protein modification process | 2p24.3-p24.1 |
| TTLL5 | protein modification process; transcription, DNA-dependent | 14q24.3 |
| TTLL6 | protein polyglutamylation; protein modification process | 17q21.32 |
| TTLL7 | cell differentiation; protein modification process; nervous system development; multicellular organismal development | 1p31.1 |
| TTLL8 | protein polyglycylation | 22q13.33 |
| TTLL9 | protein modification process | 20q11.21 |
| TTN | skeletal muscle myosin thick filament assembly; platelet degranulation; muscle contraction; striated muscle contraction; skeletal muscle thin filament assembly; regulation of protein kinase activity; cardiac muscle fiber development; sarcomerogenesis; regulation of catalytic activity; response to calcium ion; cardiac myofibril assembly; cardiac muscle tissue morphogenesis; mitotic chromosome condensation; sarcomere organization; platelet activation; muscle filament sliding; blood coagulation | 2q31 |
| TTN-AS1 | - | - |
| TTPA | negative regulation of establishment of blood-brain barrier; vitamin E metabolic process; developmental process; lipid metabolic process; embryonic placenta development; response to toxin; response to pH; transport; response to nutrient | 8q12.3 |
| TTPAL | - | 20q13.12 |
| TTTY1 | - | Yp11.2 |
| TTTY10 | - | Yq11.221 |
| TTTY11 | - | Yp11.2 |
| TTTY13 | - | Yq11.223 |
| TTTY14 | - | Yq11.222 |
| TTTY15 | - | Yq11.1 |
| TTTY2 | - | Yp11.2 |
| TTTY20 | - | Yp11.2 |
| TTTY21 | - | Yp11.2 |
| TTTY21B | - | Yp11.2 |
| TTTY23 | - | Yp11.2 |
| TTTY2B | - | Yp11.2 |
| TTTY3 | - | Yq11.23 |
| TTTY4C | - | Yq11.223 |
| TTTY5 | - | Yq11.223 |
| TTTY6 | - | Yq11.223 |
| TTTY6B | - | Yq11.223 |
| TTTY7 | - | Yp11.2 |
| TTYH1 | ion transport; iron ion transport; cell adhesion; iron ion transmembrane transport | 19q13.4 |
| TTYH2 | ion transport | 17q25.1 |
| TTYH3 | ion transport; chloride transport | 7p22 |
| TUB | response to stimulus; positive regulation of phagocytosis | 11p15.5 |
| TUBA1A | protein polymerization; G2/M transition of mitotic cell cycle; mitotic cell cycle; protein folding; microtubule-based process; microtubule-based movement; cytoskeleton-dependent intracellular transport; cellular protein metabolic process; 'de novo' posttranslational protein folding; cell division | 12q13.12 |
| TUBA1B | 'de novo' posttranslational protein folding; protein polymerization; cytoskeleton-dependent intracellular transport; microtubule-based movement; cellular protein metabolic process; cell division; microtubule cytoskeleton organization; microtubule-based process; protein folding | 12q13.12 |
| TUBA1C | protein polymerization; cell division; 'de novo' posttranslational protein folding; cellular protein metabolic process; cytoskeleton-dependent intracellular transport; microtubule-based movement; microtubule-based process; protein folding | 12q13.12 |
| TUBA3C | - | 13q11 |
| TUBA3FP | - | 22q11.21 |
| TUBA3GP | - | 22q11.21 |
| TUBA4A | mitotic cell cycle; G2/M transition of mitotic cell cycle; platelet degranulation; protein folding; microtubule-based movement; blood coagulation; platelet activation; cellular protein metabolic process; 'de novo' posttranslational protein folding; protein polymerization | 2q35 |
| TUBA4B | protein polymerization; microtubule-based movement | 2q35 |
| TUBA8 | microtubule-based movement; protein polymerization | 22q11.1 |
| TUBAL3 | protein polymerization; microtubule-based movement | 10p15.1 |
| TUBAP | - | 21q21.1 |
| TUBAP2 | - | 11q14.3 |
| TUBB | natural killer cell mediated cytotoxicity; G2/M transition of mitotic cell cycle; cell division; cellular process; spindle assembly; protein polymerization; cytoskeleton-dependent intracellular transport; neuron differentiation; microtubule-based movement; cellular component movement; mitosis; microtubule-based process; mitotic cell cycle | 6p21.33 |
| TUBB1 | 'de novo' posttranslational protein folding; cellular protein metabolic process; microtubule-based movement; spindle assembly; protein polymerization; protein folding | 20q13.32 |
| TUBB1P1 | - | Yq11.222 |
| TUBB1P2 | - | Yq11.221 |
| TUBB2A | protein polymerization; 'de novo' posttranslational protein folding; cellular protein metabolic process; neuron differentiation; mitosis; microtubule-based movement; protein folding | 6p25 |
| TUBB2B | neuron migration; 'de novo' posttranslational protein folding; cellular protein metabolic process; neuron differentiation; protein polymerization; mitosis; microtubule-based movement; protein folding | 6p25 |
| TUBB2BP1 | - | 6p25.2 |
| TUBB3 | cellular protein metabolic process; protein folding; protein polymerization; 'de novo' posttranslational protein folding; microtubule-based movement; axon guidance | 16q24.3 |
| TUBB3P1 | - | 6q15 |
| TUBB3P2 | - | 7q33 |
| TUBB4A | G2/M transition of mitotic cell cycle; cellular protein metabolic process; 'de novo' posttranslational protein folding; protein folding; mitotic cell cycle; microtubule-based movement; protein polymerization | 19p13.3 |
| TUBB4AP1 | - | Xq25 |
| TUBB4B | microtubule-based movement; 'de novo' posttranslational protein folding; protein polymerization; natural killer cell mediated cytotoxicity; cellular component movement; protein folding; mitotic cell cycle; G2/M transition of mitotic cell cycle; cellular protein metabolic process | 9q34 |
| TUBB4BP6 | - | - |
| TUBB4BP7 | - | 6q25.2 |
| TUBB6 | 'de novo' posttranslational protein folding; protein polymerization; cellular protein metabolic process; microtubule-based movement; protein folding | 18p11.21 |
| TUBB7P | - | 4q35 |
| TUBB8P1 | - | - |
| TUBB8P10 | - | 1q42.13 |
| TUBB8P11 | - | 1p36.33 |
| TUBB8P3 | - | 4q25 |
| TUBB8P4 | - | 12p11.1 |
| TUBB8P6 | - | 1q43 |
| TUBBP1 | - | 8p12 |
| TUBBP2 | - | 13q14.11 |
| TUBBP5 | microtubule-based movement; protein polymerization | 9q34.3 |
| TUBBP6 | - | 7p11.2 |
| TUBBP9 | - | 6p21.2 |
| TUBD1 | multicellular organismal development; protein polymerization; cell differentiation; spermatogenesis; microtubule-based movement | 17q23.1 |
| TUBE1 | microtubule-based movement; centrosome cycle; protein polymerization | 6q21 |
| TUBG1 | protein polymerization; microtubule cytoskeleton organization; mitotic cell cycle; meiotic spindle organization; G2/M transition of mitotic cell cycle | 17q21 |
| TUBG1P | - | 7p13 |
| TUBG2 | microtubule-based process; protein polymerization; G2/M transition of mitotic cell cycle; mitotic cell cycle | 17q21 |
| TUBGCP2 | protein complex assembly; mitotic cell cycle; G2/M transition of mitotic cell cycle; microtubule nucleation | 10q26.3 |
| TUBGCP3 | single fertilization; microtubule nucleation; mitotic cell cycle; G2/M transition of mitotic cell cycle | 13q34 |
| TUBGCP4 | G2/M transition of mitotic cell cycle; mitotic cell cycle; protein complex assembly; microtubule nucleation | 15q15 |
| TUBGCP5 | G2/M transition of mitotic cell cycle; mitotic cell cycle; microtubule nucleation | 15q11.2 |
| TUBGCP6 | microtubule nucleation; G2/M transition of mitotic cell cycle; mitotic cell cycle | 22q13.31-q13.33 |
| TUFM | translational elongation | 16p11.2 |
| TUFMP1 | - | 17q11.1 |
| TUFT1 | bone mineralization; odontogenesis | 1q21 |
| TUG1 | - | 22q12.2 |
| TULP1 | G-protein coupled receptor signaling pathway; visual perception; phototransduction; dendrite development; eye photoreceptor cell development; photoreceptor cell maintenance; retina development in camera-type eye; response to stimulus; positive regulation of phagocytosis | 6p21.3 |
| TULP2 | visual perception | 19q13.1 |
| TULP3 | multicellular organismal development; G-protein coupled receptor signaling pathway; regulation of transcription, DNA-dependent | 12p13.3 |
| TULP4 | response to nutrient; regulation of transcription, DNA-dependent; intracellular signal transduction | 6q25-q26 |
| TUNAR | - | - |
| TUSC1 | - | 9p21.2 |
| TUSC2 | cell proliferation; cell-cell signaling; cell cycle | 3p21.3 |
| TUSC3 | transport; cell redox homeostasis; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; magnesium ion transport; cognition; protein N-linked glycosylation | 8p22 |
| TUSC5 | response to biotic stimulus | 17p13.3 |
| TUT1 | mRNA polyadenylation; mRNA cleavage; snRNA processing; histone mRNA catabolic process | 11q12.2 |
| TVP23A | - | 16p13.13 |
| TVP23B | - | 17p11.2 |
| TVP23BP1 | - | 15q12 |
| TVP23C | - | 17p12 |
| TWF1 | regulation of actin phosphorylation; sequestering of actin monomers; negative regulation of actin filament polymerization | 12q12 |
| TWF2 | positive regulation of lamellipodium assembly; regulation of actin cytoskeleton organization; cellular response to growth factor stimulus; cellular response to retinoic acid; barbed-end actin filament capping; regulation of microvillus length; negative regulation of actin filament polymerization; positive regulation of axon extension; sequestering of actin monomers; positive regulation of neuron projection development | 3p21.1 |
| TWIST1 | embryonic cranial skeleton morphogenesis; cranial suture morphogenesis; embryonic camera-type eye formation; eyelid development in camera-type eye; cellular response to hypoxia; positive regulation of monocyte chemotactic protein-1 production; positive regulation of cell motility; negative regulation of oxidative phosphorylation uncoupler activity; positive regulation of transcription regulatory region DNA binding; negative regulation of cellular senescence; positive regulation of interleukin-6 secretion; negative regulation of double-strand break repair; cell proliferation involved in heart valve development; negative regulation of sequence-specific DNA binding transcription factor activity; neuron migration; negative regulation of tumor necrosis factor production; positive regulation of fatty acid beta-oxidation; regulation of bone mineralization; negative regulation of phosphatidylinositol 3-kinase cascade; positive regulation of epithelial to mesenchymal transition; negative regulation of skeletal muscle | 7p21.2 |
| TWIST2 | anti-apoptosis; negative regulation of tumor necrosis factor production; negative regulation of DNA binding; positive regulation of keratinocyte proliferation; negative regulation of molecular function; negative regulation of myeloid cell differentiation; negative regulation of osteoblast differentiation; negative regulation of cell proliferation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; embryonic cranial skeleton morphogenesis; face morphogenesis; multicellular organismal development; cornea development in camera-type eye | 2q37.3 |
| TWISTNB | - | 7p21.1 |
| TWSG1 | hemopoiesis; tissue development; embryo development; negative regulation of osteoblast differentiation; camera-type eye development; forebrain development; cell differentiation; salivary gland morphogenesis; mesoderm formation; positive regulation of BMP signaling pathway; ossification; negative regulation of BMP signaling pathway | 18p11.3 |
| TXK | positive regulation of interferon-gamma production; interleukin-4 production; cytokine production; NK T cell differentiation; adaptive immune response; regulation of transcription from RNA polymerase II promoter; protein phosphorylation; activation of phospholipase C activity; positive regulation of interferon-gamma-mediated signaling pathway; T cell receptor signaling pathway; protein autophosphorylation | 4p12 |
| TXLNA | cell proliferation; exocytosis | 1p35.1 |
| TXLNB | - | 6q24.1 |
| TXLNG | regulation of transcription, DNA-dependent; regulation of cell cycle process; regulation of cell cycle; regulation of bone mineralization | Xp22.2 |
| TXLNGY | - | Yq11.222 |
| TXN | cell redox homeostasis; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; glycerol ether metabolic process; transport; cellular component movement; oxidation-reduction process; nucleobase-containing small molecule metabolic process; positive regulation of DNA binding; cell proliferation; response to radiation; nucleobase-containing small molecule interconversion; electron transport chain; signal transduction; regulation of protein import into nucleus, translocation; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; negative regulation of protein export from nucleus; small molecule metabolic process; innate immune response; cell-cell signaling | 9q31 |
| TXN2 | response to axon injury; response to hypoxia; glycerol ether metabolic process; transport; response to oxidative stress; response to nutrient; response to hormone stimulus; response to glucose stimulus; response to organic cyclic compound; electron transport chain; cellular response to nutrient levels; response to drug; cell redox homeostasis | 22q13.1 |
| TXNDC11 | cell redox homeostasis | 16p13.13 |
| TXNDC12 | cell redox homeostasis | 1p32.3 |
| TXNDC15 | cell redox homeostasis | 5q31.1 |
| TXNDC16 | cell redox homeostasis | 14q22.1 |
| TXNDC17 | tumor necrosis factor-mediated signaling pathway | 17p13.1 |
| TXNDC2 | cell redox homeostasis; protein thiol-disulfide exchange; glycerol ether metabolic process; multicellular organismal development; spermatogenesis; cell differentiation | - |
| TXNDC5 | cell redox homeostasis; cellular membrane organization; anti-apoptosis; post-Golgi vesicle-mediated transport; glycerol ether metabolic process | 6p24.3 |
| TXNDC9 | cell redox homeostasis | 2q11.2 |
| TXNIP | response to glucose stimulus; innate immune response; keratinocyte differentiation; response to estradiol stimulus; response to progesterone stimulus; response to mechanical stimulus; cellular response to tumor cell; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; negative regulation of cell division; response to calcium ion; regulation of cell proliferation; response to drug; platelet-derived growth factor receptor signaling pathway; response to hydrogen peroxide; positive regulation of apoptotic process; cell cycle; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; protein import into nucleus; response to oxidative stress | 1q21.1 |
| TXNL1 | glycerol ether metabolic process; transport; electron transport chain; cell redox homeostasis | 18q21.31 |
| TXNL1P1 | - | - |
| TXNL4A | cell cycle; gene expression; cell division; nuclear mRNA splicing, via spliceosome; RNA splicing; RNA splicing, via transesterification reactions; spliceosome assembly; mitosis | 18q23 |
| TXNL4B | mRNA processing; cell cycle; mitosis; RNA splicing | 16q22.2 |
| TXNRD1 | electron transport chain; nucleobase-containing small molecule metabolic process; cellular lipid metabolic process; small molecule metabolic process; cell redox homeostasis; transport; signal transduction; nucleobase-containing small molecule interconversion | 12q23-q24.1 |
| TXNRD2 | response to selenium ion; response to oxygen radical; heart development; cell redox homeostasis; hemopoiesis | 22q11.21 |
| TYK2 | regulation of type I interferon-mediated signaling pathway; type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway; intracellular protein kinase cascade; protein phosphorylation | 19p13.2 |
| TYMP | pyrimidine nucleotide metabolic process; mitochondrial genome maintenance; angiogenesis; nucleobase-containing small molecule metabolic process; pyrimidine nucleoside catabolic process; small molecule metabolic process; pyrimidine nucleoside salvage; cell differentiation; multicellular organismal development; chemotaxis; DNA replication; pyrimidine base metabolic process | 22q13.33 |
| TYMS | cartilage development; G1/S transition of mitotic cell cycle; deoxyribonucleoside monophosphate biosynthetic process; aging; DNA repair; DNA replication; dTMP biosynthetic process; pyrimidine base metabolic process; nucleobase-containing compound metabolic process; mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; immortalization of host cell by virus; intestinal epithelial cell maturation; nucleobase-containing small molecule metabolic process; response to glucocorticoid stimulus; developmental growth; phosphatidylinositol-mediated signaling; response to organophosphorus; pyrimidine nucleoside biosynthetic process; dUMP metabolic process; small molecule metabolic process; response to drug; organ regeneration; nucleotide biosynthetic process | 18p11.32 |
| TYMSOS | - | 18p11.32 |
| TYR | melanin biosynthetic process from tyrosine; eye pigment biosynthetic process; visual perception; cell proliferation; pigmentation; thymus development | 11q14-q21 |
| TYRO3 | platelet aggregation; apoptotic cell clearance; ovulation cycle; substrate adhesion-dependent cell spreading; negative regulation of toll-like receptor signaling pathway; secretion by cell; protein kinase B signaling cascade; negative regulation of neuron apoptosis; negative regulation of innate immune response; protein autophosphorylation; negative regulation of inflammatory response; negative regulation of lymphocyte activation; vagina development; neuron homeostasis; platelet activation; natural killer cell differentiation; signal transduction by phosphorylation; forebrain cell migration; phosphatidylinositol 3-kinase cascade; spermatogenesis; signal transduction; cell adhesion | 15q15 |
| TYRO3P | - | 15q24.2 |
| TYROBP | cellular defense response; signal transduction; axon guidance; intracellular signal transduction; regulation of immune response | 19q13.1 |
| TYRP1 | melanocyte differentiation; pigmentation; acetoacetic acid metabolic process; melanin biosynthetic process; melanosome organization | 9p23 |
| TYSND1 | proteolysis; protein homooligomerization; protein processing; regulation of fatty acid beta-oxidation | 10q22.1 |
| TYW1 | tRNA processing | 7q11.21 |
| TYW1B | tRNA processing | 7q11.23 |
| TYW3 | tRNA processing | 1p31.1 |
| TYW5 | wybutosine biosynthetic process; tRNA processing | 2q33.1 |
| U2AF1 | mRNA 3'-end processing; gene expression; RNA splicing; mRNA export from nucleus; mRNA processing; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome | 21q22.3 |
| U2AF1L4 | mRNA processing; RNA splicing | 19q13.12 |
| U2AF2 | termination of RNA polymerase II transcription; negative regulation of nuclear mRNA splicing, via spliceosome; mRNA 3'-end processing; gene expression; RNA splicing; mRNA export from nucleus; mRNA processing; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome | 19q13.42 |
| U2SURP | RNA processing | 3q23 |
| UACA | - | 15q22-q24 |
| UAP1 | UDP-N-acetylglucosamine biosynthetic process; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; metabolic process; dolichol-linked oligosaccharide biosynthetic process | 1q23.3 |
| UAP1L1 | metabolic process | 9q34.3 |
| UBA1 | protein modification process; cell death | Xp11.23 |
| UBA2 | positive regulation of catalytic activity; protein modification process; protein sumoylation | 19q12 |
| UBA3 | regulation of cell cycle; negative regulation of transcription, DNA-dependent; endomitotic cell cycle; proteolysis; protein modification process; protein neddylation | 3p24.3-p13 |
| UBA5 | oxidation-reduction process; protein ufmylation | 3q22.1 |
| UBA52 | translational initiation; DNA repair; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; cellular protein metabolic process; innate immune response; egress of virus within host cell; nerve growth factor receptor signaling pathway; T cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; stress-activated MAPK cascade; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; nucleotide-binding oligomerization domain containing signaling pathway; antigen processing and presentation of exogenous peptide antigen via MHC class I; MyD88-independent toll-like receptor signaling pat | 19p13.1-p12 |
| UBA52P1 | - | 7p15.2 |
| UBA52P3 | - | 14q23.1 |
| UBA52P6 | - | 9p21.3 |
| UBA52P8 | - | 16q12 |
| UBA52P9 | - | 18q11.2-q12.1 |
| UBA6 | ubiquitin-dependent protein catabolic process; protein ubiquitination; protein modification process | 4q13.2 |
| UBA6-AS1 | - | 4q13.2 |
| UBAC1 | - | 9q34.3 |
| UBAC2 | - | 13q32.3 |
| UBAC2-AS1 | - | 13q32.3 |
| UBALD1 | - | 16p13.3 |
| UBALD2 | - | 17q25.1 |
| UBAP1 | - | 9p13.3 |
| UBAP1L | - | 15q22.31 |
| UBAP2 | - | 9p13.3 |
| UBAP2L | binding of sperm to zona pellucida | 1q21.3 |
| UBASH3A | regulation of cytokine production; negative regulation of T cell receptor signaling pathway | 21q22.3 |
| UBASH3B | - | 11q24.1 |
| UBB | M/G1 transition of mitotic cell cycle; stress-activated MAPK cascade; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; nucleotide-binding oligomerization domain containing signaling pathway; Toll signaling pathway; DNA repair; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I; toll-like receptor signaling pathway; mitotic cell cycle; fibroblast growth factor receptor signaling pathway; protein polyubiquitination; activation of MAPK activity; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; apoptotic process; anti-apoptosis; DNA | 17p12-p11.2 |
| UBBP1 | - | 2q14.3 |
| UBBP2 | - | 1q32 |
| UBBP3 | - | 2q22.3 |
| UBBP4 | - | 17p11.2 |
| UBBP5 | - | - |
| UBC | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; egress of virus within host cell; negative regulation of type I interferon production; nerve growth factor receptor signaling pathway; T cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; stress-activated MAPK cascade; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; nucleotide-binding oligomerization domain containing signaling pathway; M/G1 transition of mitotic cell cycle; epidermal growth factor receptor | 12q24.3 |
| UBDP1 | - | 6p22.1 |
| UBE2A | positive regulation of cell proliferation; protein K48-linked ubiquitination; protein polyubiquitination; in utero embryonic development; antigen processing and presentation of peptide antigen via MHC class I; DNA repair; postreplication repair; ubiquitin-dependent protein catabolic process; response to UV; chromatin modification; histone H2A ubiquitination; protein autoubiquitination; maternal process involved in female pregnancy; protein K11-linked ubiquitination | Xq24 |
| UBE2B | protein K11-linked ubiquitination; protein K48-linked ubiquitination; cellular response to insulin stimulus; protein K63-linked ubiquitination; synaptonemal complex organization; histone lysine demethylation; canonical Wnt receptor signaling pathway; protein autoubiquitination; chiasma assembly; negative regulation of cAMP-mediated signaling; positive regulation of reciprocal meiotic recombination; response to UV; sperm axoneme assembly; spermatogenesis; response to DNA damage stimulus; protein monoubiquitination; ubiquitin-dependent protein catabolic process; maintenance of chromatin silencing; postreplication repair; DNA repair; in utero embryonic development; protein stabilization; response to hypoxia; protein polyubiquitination; protein ubiquitination; regulation of histone modification; negative regulation of histone phosphorylation; histone H2A ubiquitination; response to drug; negative regulation of apoptotic process; proteasomal ubiquitin-dependent protein catabolic process | 5q31.1 |
| UBE2C | exit from mitosis; cyclin catabolic process; cell cycle checkpoint; mitotic cell cycle; ubiquitin-dependent protein catabolic process; cell cycle; spindle organization; mitosis; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; activation of anaphase-promoting complex activity; protein K48-linked ubiquitination; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; protein K11-linked ubiquitination; phosphatidylinositol-mediated signaling; positive regulation of exit from mitosis; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; free ubiquitin chain polymerization; mitotic cell cycle spindle assembly checkpoint | 20q13.12 |
| UBE2CP2 | - | 18q11.2 |
| UBE2CP4 | - | 15q13.3 |
| UBE2D1 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; transforming growth factor beta receptor signaling pathway; mitotic cell cycle spindle assembly checkpoint; ubiquitin-dependent protein catabolic process; mitotic cell cycle; protein polyubiquitination; cell cycle checkpoint; BMP signaling pathway; positive regulation of protein ubiquitination; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K48-linked ubiquitination | 10q21.1 |
| UBE2D2 | protein modification process; ubiquitin-dependent protein catabolic process; protein ubiquitination; protein K48-linked ubiquitination | 5q31.2 |
| UBE2D3 | apoptotic process; protein polyubiquitination; DNA repair; protein modification process; ubiquitin-dependent protein catabolic process; protein K11-linked ubiquitination; protein K48-linked ubiquitination; innate immune response; proteasomal ubiquitin-dependent protein catabolic process; negative regulation of type I interferon production; BMP signaling pathway; protein ubiquitination; transforming growth factor beta receptor signaling pathway; protein monoubiquitination | 4q24 |
| UBE2D3P1 | - | 20p12.3 |
| UBE2D3P4 | - | 13q31.1 |
| UBE2D4 | protein K11-linked ubiquitination; protein K48-linked ubiquitination; protein K63-linked ubiquitination; protein K27-linked ubiquitination; protein K29-linked ubiquitination; protein K6-linked ubiquitination | 7p13 |
| UBE2DNL | - | Xq21.1 |
| UBE2E1 | mitotic cell cycle; protein K48-linked ubiquitination; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; histone H2B ubiquitination; ISG15-protein conjugation; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cytokine-mediated signaling pathway; protein ubiquitination; histone monoubiquitination; mitotic cell cycle spindle assembly checkpoint; ubiquitin-dependent protein catabolic process; protein polyubiquitination; cell cycle checkpoint | 3p24.2 |
| UBE2E2 | protein K48-linked ubiquitination; protein K11-linked ubiquitination; protein K63-linked ubiquitination; ISG15-protein conjugation | 3p24.2 |
| UBE2E3 | protein K11-linked ubiquitination; protein K48-linked ubiquitination; regulation of growth; protein K63-linked ubiquitination | 2q32.1 |
| UBE2E4P | - | Xp22.2 |
| UBE2F | protein neddylation | 2q37.3 |
| UBE2FP1 | - | - |
| UBE2G1 | protein K48-linked ubiquitination; protein K63-linked ubiquitination; ubiquitin-dependent protein catabolic process | 17p13.2 |
| UBE2G2 | protein K48-linked ubiquitination; ER-associated protein catabolic process; ubiquitin-dependent protein catabolic process | 21q22.3 |
| UBE2H | ubiquitin-dependent protein catabolic process; protein ubiquitination; protein K48-linked ubiquitination; protein K11-linked ubiquitination | 7q32 |
| UBE2HP1 | - | 8q21.13 |
| UBE2I | cell division; negative regulation of transcription from RNA polymerase II promoter; positive regulation of sequence-specific DNA binding transcription factor activity; negative regulation of transcription, DNA-dependent; interspecies interaction between organisms; proteasomal ubiquitin-dependent protein catabolic process; positive regulation of intracellular steroid hormone receptor signaling pathway; protein sumoylation; protein ubiquitination; regulation of receptor activity; mitosis; chromosome segregation; cell cycle; ubiquitin-dependent protein catabolic process; protein modification process | 16p13.3 |
| UBE2J1 | - | 6q15 |
| UBE2J2 | response to unfolded protein | 1p36.33 |
| UBE2K | protein ubiquitination; protein K48-linked ubiquitination; ubiquitin-dependent protein catabolic process | 4p14 |
| UBE2L1 | - | 14q22.3 |
| UBE2L3 | protein K11-linked ubiquitination; cellular response to glucocorticoid stimulus; cellular response to steroid hormone stimulus; protein ubiquitination; cell proliferation; regulation of S phase of mitotic cell cycle; ubiquitin-dependent protein catabolic process; protein modification process; regulation of transcription, DNA-dependent; protein polyubiquitination | 22q11.21 |
| UBE2L6 | innate immune response; negative regulation of type I interferon production; ISG15-protein conjugation; modification-dependent protein catabolic process; protein modification process; protein ubiquitination; cytokine-mediated signaling pathway | 11q12 |
| UBE2M | protein ubiquitination; positive regulation of neuron apoptosis; protein neddylation; protein modification process | 19q13.43 |
| UBE2MP1 | - | 16p11.2 |
| UBE2N | proteolysis; protein K63-linked ubiquitination; nucleotide-binding oligomerization domain containing signaling pathway; positive regulation of ubiquitin-protein ligase activity; positive regulation of NF-kappaB transcription factor activity; T cell receptor signaling pathway; positive regulation of DNA repair; positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; DNA double-strand break processing; double-strand break repair via homologous recombination; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; regulation of DNA repair; postreplication repair; protein modification process; Toll signaling pathway; protein ubiquitination; histone ubiquitination; cytokine-mediated signaling pathway; positive regulation of histone modification; regulation of histone ubiquitination; toll-like receptor 4 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; nucleotide-binding domain, leucine rich repeat contai | 12q22 |
| UBE2NL | ubiquitin-dependent protein catabolic process | Xq27.3 |
| UBE2O | - | 17q25.1 |
| UBE2Q1 | - | 1q21.3 |
| UBE2Q2 | protein K48-linked ubiquitination | 15q24.2 |
| UBE2Q2L | - | - |
| UBE2Q2P1 | - | 15q25.2 |
| UBE2Q2P2 | - | 15q25 |
| UBE2QL1 | - | 5p15.31 |
| UBE2R2 | protein monoubiquitination; protein K48-linked ubiquitination | 9p13.3 |
| UBE2S | protein K6-linked ubiquitination; protein K11-linked ubiquitination; cell cycle; exit from mitosis; protein modification process; free ubiquitin chain polymerization; protein K63-linked ubiquitination; activation of anaphase-promoting complex activity; cell division; protein K27-linked ubiquitination; protein K29-linked ubiquitination; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process | 19q13.43 |
| UBE2SP1 | - | 17p11.2 |
| UBE2T | protein K6-linked ubiquitination; protein K29-linked ubiquitination; DNA repair; protein K11-linked ubiquitination; protein K48-linked ubiquitination; protein K63-linked ubiquitination; protein K27-linked ubiquitination | 1q32.1 |
| UBE2U | - | 1p31.3 |
| UBE2V1 | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; toll-like receptor 4 signaling pathway; protein polyubiquitination; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; regulation of DNA repair; regulation of transcription, DNA-dependent; Toll signaling pathway; cell differentiation; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; positive regulation of transcription, DNA-dependent; T cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; nucleotide-binding oligomerization domain containing signaling pathway; protein K63-linked ubiquitination | 20q13.2 |
| UBE2V1P2 | - | 3q26.31 |
| UBE2V1P5 | - | 10q25.3 |
| UBE2V1P6 | - | 2q31.1 |
| UBE2V1P9 | - | Xq21.31 |
| UBE2V2 | protein polyubiquitination; DNA double-strand break processing; regulation of DNA repair; cell proliferation; protein ubiquitination | 8q11.21 |
| UBE2V2P1 | - | 10p12.31 |
| UBE2W | protein monoubiquitination; protein K11-linked ubiquitination | 8q21.11 |
| UBE2Z | apoptotic process | 17q21.32 |
| UBE3A | proteolysis; protein modification process; protein K48-linked ubiquitination; ovarian follicle development; ubiquitin-dependent protein catabolic process; brain development; positive regulation of phosphatidylinositol 3-kinase cascade; androgen receptor signaling pathway; sperm entry; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; interspecies interaction between organisms; positive regulation of transcription from RNA polymerase II promoter; prostate gland growth | 15q11.2 |
| UBE3B | protein modification process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 12q24.11 |
| UBE3C | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein polyubiquitination; protein modification process | 7q36.3 |
| UBE3D | - | 6q14.1 |
| UBE4A | ubiquitin-dependent protein catabolic process | 11q23.3 |
| UBE4B | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; response to endoplasmic reticulum stress; neuron projection development; response to UV; cellular protein catabolic process; apoptotic process; ventricular trabecula myocardium morphogenesis; protein polyubiquitination | 1p36.3 |
| UBFD1 | - | 16p12 |
| UBIAD1 | vitamin K biosynthetic process; menaquinone biosynthetic process | 1p36.22 |
| UBL3 | - | 13q12-q13 |
| UBL4A | transport; tail-anchored membrane protein insertion into ER membrane; protein modification process | Xq28 |
| UBL5 | - | 19p13.3 |
| UBL5P2 | - | 17q11.2 |
| UBL5P3 | - | 3p14.2 |
| UBL7 | - | 15q24.1 |
| UBL7-AS1 | - | 15q24.1 |
| UBLCP1 | - | 5q33.3 |
| UBN1 | regulation of transcription from RNA polymerase II promoter; negative regulation of phosphatase activity; chromatin modification; interspecies interaction between organisms | 16p13.3 |
| UBN2 | - | 7q34 |
| UBOX5 | protein polyubiquitination | 20p13 |
| UBOX5-AS1 | - | - |
| UBP1 | angiogenesis; regulation of transcription from RNA polymerase II promoter; viral genome replication; negative regulation of transcription, DNA-dependent | 3p22.3 |
| UBQLN1 | regulation of protein ubiquitination; apoptotic process; response to hypoxia | 9q22|9q21.2-q21.3 |
| UBQLN1P1 | - | 6p22.1 |
| UBQLN2 | cell death | Xp11.21 |
| UBQLN4 | regulation of proteasomal ubiquitin-dependent protein catabolic process | 1q21 |
| UBQLN4P1 | - | 3q24 |
| UBQLNL | - | 11p15.4 |
| UBR1 | negative regulation of TOR signaling cascade; protein catabolic process; ubiquitin-dependent protein catabolic process; cellular response to leucine | 15q13 |
| UBR2 | spermatogenesis; chromatin silencing; ubiquitin-dependent protein catabolic process; male meiosis I; protein catabolic process; negative regulation of TOR signaling cascade; histone H2A ubiquitination; cellular response to leucine | 6p21.1 |
| UBR3 | sensory perception of smell; ubiquitin-dependent protein catabolic process; embryo development; suckling behavior; in utero embryonic development; protein ubiquitination; olfactory behavior | 2q31.1 |
| UBR4 | interspecies interaction between organisms | 1p36.13 |
| UBR5 | protein modification process; ubiquitin-dependent protein catabolic process; protein polyubiquitination; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; positive regulation of canonical Wnt receptor signaling pathway; progesterone receptor signaling pathway; response to DNA damage stimulus; cell proliferation; protein ubiquitination; positive regulation of protein import into nucleus, translocation; positive regulation of catenin import into nucleus | 8q22 |
| UBR7 | - | 14q32.12 |
| UBTD1 | - | 10q24.2 |
| UBTD2 | - | 5q35.1 |
| UBTF | transcription elongation from RNA polymerase I promoter; termination of RNA polymerase I transcription; transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; regulation of transcription from RNA polymerase I promoter; chromatin silencing at rDNA; gene expression; positive regulation of transcription from RNA polymerase I promoter | 17q21.31 |
| UBTFL8 | - | 3p26.1 |
| UBXN1 | negative regulation of protein ubiquitination; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; proteasomal ubiquitin-dependent protein catabolic process | 11q12.3 |
| UBXN10 | - | 1p36.12 |
| UBXN10-AS1 | - | 1p36.12 |
| UBXN11 | - | 1p36.11 |
| UBXN2A | regulation of protein catabolic process; regulation of protein ubiquitination | 2p23.3 |
| UBXN2B | - | 8q12.1 |
| UBXN4 | response to unfolded protein | 2q21.3 |
| UBXN6 | - | 19p13 |
| UBXN7 | - | 3q29 |
| UBXN8 | single fertilization | 8p12-p11.2 |
| UCA1 | - | 19p13.12 |
| UCHL1 | cell death; metabolic process; adult walking behavior; cell proliferation; protein deubiquitination; axon transport of mitochondrion; eating behavior; negative regulation of MAP kinase activity; axon target recognition; response to stress; ubiquitin-dependent protein catabolic process; proteolysis; neuromuscular process | 4p14 |
| UCHL3 | proteolysis; ubiquitin-dependent protein catabolic process; protein catabolic process | 13q22.2 |
| UCHL5 | forebrain morphogenesis; regulation of proteasomal protein catabolic process; midbrain development; lateral ventricle development; protein deubiquitination; negative regulation of endopeptidase activity; ubiquitin-dependent protein catabolic process; proteolysis; regulation of transcription, DNA-dependent; DNA recombination; DNA repair | 1q32 |
| UCK1 | small molecule metabolic process; pyrimidine base metabolic process; nucleobase-containing small molecule metabolic process; metabolic process; pyrimidine nucleoside salvage; nucleotide biosynthetic process | 9q34.13 |
| UCK2 | nucleotide biosynthetic process; pyrimidine base metabolic process; feeding behavior; pyrimidine nucleoside salvage; small molecule metabolic process; response to axon injury; nucleobase-containing small molecule metabolic process; cellular response to oxygen levels | 1q23 |
| UCKL1 | metabolic process; interspecies interaction between organisms | 20q13.33 |
| UCMA | negative regulation of osteoblast differentiation | 10p13 |
| UCN | regulation of synaptic transmission, glutamatergic; response to glucocorticoid stimulus; positive regulation of vasodilation; negative regulation of blood pressure; positive regulation of DNA replication; positive regulation of translation; neuroprotection; drinking behavior; positive regulation of collagen biosynthetic process; positive regulation of interleukin-6 production; neuron projection development; positive regulation of cell growth; pancreatic juice secretion; learning or memory; female pregnancy; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; response to estradiol stimulus; response to oxidative stress; inflammatory response | 2p23-p21 |
| UCN2 | cellular response to glucocorticoid stimulus; negative regulation of gonadotropin secretion; cell proliferation; digestion; response to stress; cAMP biosynthetic process | 3p21.3 |
| UCP2 | response to fatty acid; small molecule metabolic process; cellular response to hormone stimulus; cellular response to insulin stimulus; respiratory electron transport chain; proton transport; response to glucose stimulus; mitochondrial transport; anion transport; transport; response to hypoxia; response to superoxide | 11q13 |
| UCP3 | small molecule metabolic process; respiratory electron transport chain; cellular response to hormone stimulus; response to insulin stimulus; fatty acid metabolic process; response to steroid hormone stimulus; response to glucocorticoid stimulus; transmembrane transport; response to cold; proton transport; response to activity; respiratory gaseous exchange; response to nutrient; aging; mitochondrial transport; response to hypoxia; lipid metabolic process; response to superoxide | 11q13.4 |
| UEVLD | protein modification process; cellular carbohydrate metabolic process; protein transport | 11p15.1 |
| UFC1 | protein ufmylation | 1q23.3 |
| UFD1L | skeletal system development; ubiquitin-dependent protein catabolic process | 22q11.21 |
| UFL1 | negative regulation of protein ubiquitination; protein ufmylation; negative regulation of NF-kappaB transcription factor activity | 6q16.1 |
| UFL1-AS1 | - | 6q16.1 |
| UFM1 | protein ufmylation | 13q13.3 |
| UFSP1 | metabolic process | 7q22.1 |
| UFSP2 | proteolysis; metabolic process | 4q35.1 |
| UG0898H09 | - | 8q12.3 |
| UGCG | lipid biosynthetic process; epidermis development; glycosphingolipid biosynthetic process; glycosphingolipid metabolic process; glucosylceramide biosynthetic process; sphingolipid metabolic process; small molecule metabolic process | 9q31 |
| UGDH | gastrulation with mouth forming second; small molecule metabolic process; xenobiotic metabolic process; UDP-glucose metabolic process; glycosaminoglycan biosynthetic process; UDP-glucuronate biosynthetic process | 4p15.1 |
| UGGT1 | 'de novo' posttranslational protein folding; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; protein glycosylation; protein folding | 2q14.3 |
| UGGT2 | protein folding; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; protein glycosylation | 13q32.1 |
| UGP2 | small molecule metabolic process; carbohydrate metabolic process; glycogen biosynthetic process; glucose metabolic process; UDP-glucose metabolic process; UDP-glucuronate biosynthetic process; xenobiotic metabolic process; glucose 1-phosphate metabolic process; phosphorylation | 2p14-p13 |
| UGT1A10 | metabolic process; cellular glucuronidation; flavone metabolic process | 2q37 |
| UGT1A12P | - | 2q37 |
| UGT1A13P | - | 2q37 |
| UGT1A5 | xenobiotic metabolic process; metabolic process | 2q37 |
| UGT1A6 | small molecule metabolic process; metabolic process; xenobiotic metabolic process | 2q37 |
| UGT1A9 | retinoic acid metabolic process; xenobiotic glucuronidation; flavonoid glucuronidation; flavone metabolic process; negative regulation of fatty acid metabolic process; small molecule metabolic process; cellular lipid metabolic process; xenobiotic metabolic process; metabolic process; negative regulation of catalytic activity; drug metabolic process | 2q37 |
| UGT2A2 | - | 4q13.3 |
| UGT2A3 | metabolic process; cellular glucuronidation | 4q13.2 |
| UGT2A3P7 | - | - |
| UGT2B10 | lipid metabolic process; metabolic process | 4q13.2 |
| UGT2B15 | cellular glucuronidation; xenobiotic metabolic process; metabolic process; steroid metabolic process | 4q13 |
| UGT2B27P | - | 4q13 |
| UGT2B28 | xenobiotic metabolic process; metabolic process | 4q13.2 |
| UGT2B29P | - | 4q13 |
| UGT2B4 | estrogen catabolic process; xenobiotic metabolic process; metabolic process; cellular glucuronidation | 4q13 |
| UGT2B7 | cellular glucuronidation; metabolic process; lipid metabolic process | 4q13 |
| UGT3A1 | metabolic process | 5p13.2 |
| UGT3A2 | metabolic process | 5p13.2 |
| UGT8 | neuron projection morphogenesis; axon cargo transport; paranodal junction assembly; metabolic process; protein localization to paranode region of axon; cytoskeleton organization; central nervous system development; peripheral nervous system development | 4q26 |
| UHMK1 | regulation of protein export from nucleus; cell cycle arrest; peptidyl-serine phosphorylation; neuron projection development; protein autophosphorylation; positive regulation of translational initiation | 1q23.3 |
| UHRF1 | regulation of transcription, DNA-dependent; cell cycle; DNA repair; cell proliferation; positive regulation of cellular protein metabolic process; positive regulation of transcription from RNA polymerase II promoter; positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity | 19p13.3 |
| UHRF1BP1 | - | 6p21 |
| UHRF1BP1L | - | 12q23.1 |
| UHRF2 | ubiquitin-dependent protein catabolic process; cell proliferation; positive regulation of cell cycle arrest; protein autoubiquitination; protein ubiquitination; cell differentiation; regulation of cell cycle | 9p24.1 |
| UHRF2P1 | - | Xq13.2 |
| UIMC1 | positive regulation of DNA repair; double-strand break repair; G2/M transition DNA damage checkpoint; histone H2A K63-linked deubiquitination; chromatin modification; response to ionizing radiation; negative regulation of transcription, DNA-dependent | 5q35.2 |
| ULBP1 | regulation of immune response; natural killer cell activation; antigen processing and presentation | 6q25 |
| ULBP2 | regulation of immune response; natural killer cell activation; antigen processing and presentation | 6q25 |
| ULBP3 | regulation of immune response; natural killer cell activation; antigen processing and presentation | 6q25 |
| ULK1 | protein localization; protein autophosphorylation; response to starvation; cellular response to nutrient levels; neuron projection development; neuron projection regeneration; positive regulation of autophagy; regulation of autophagy; axonogenesis; signal transduction; protein phosphorylation | 12q24.3 |
| ULK2 | nervous system development; signal transduction; protein autophosphorylation; response to starvation; regulation of autophagy; axonogenesis | 17p11.2 |
| ULK3 | positive regulation of smoothened signaling pathway; protein autophosphorylation; cellular senescence; autophagy; negative regulation of smoothened signaling pathway | 15q24.1 |
| ULK4 | - | 3p22.1 |
| ULK4P1 | - | 15q13.3 |
| UMAD1 | - | 7p21.3 |
| UMOD | cellular defense response; excretion; negative regulation of cell proliferation; response to organic substance; regulation of ion homeostasis; metanephric thick ascending limb development; chemical homeostasis; metanephric distal convoluted tubule development; metanephric ascending thin limb development | 16p12.3 |
| UMODL1 | - | 21q22.3 |
| UMODL1-AS1 | - | 21q22.3 |
| UMPS | small molecule metabolic process; pyrimidine nucleotide biosynthetic process; nucleobase-containing small molecule metabolic process; pyrimidine nucleoside biosynthetic process; pyrimidine base metabolic process; 'de novo' UMP biosynthetic process; nucleoside metabolic process; UMP biosynthetic process; 'de novo' pyrimidine base biosynthetic process | 3q13 |
| UNC119 | response to stimulus; lipoprotein transport; phototransduction; visual perception; synaptic transmission | 17q11.2 |
| UNC119B | cilium morphogenesis; lipoprotein transport; cell projection organization | 12q24.31 |
| UNC13A | intracellular signal transduction; exocytosis | 19p13.11 |
| UNC13B | signal transduction; intracellular signal transduction; excretion; induction of apoptosis; exocytosis | 9p13.3 |
| UNC13C | intracellular signal transduction; synaptic transmission; exocytosis | 15q21.3 |
| UNC13D | germinal center formation; phagocytosis; regulation of mast cell degranulation; granuloma formation; natural killer cell degranulation; defense response to virus; secretion; positive regulation of exocytosis | 17q25.1 |
| UNC45A | multicellular organismal development; muscle organ development; cell differentiation | 15q26.1 |
| UNC45B | muscle organ development; multicellular organismal development; cell differentiation | 17q12 |
| UNC50 | cell surface receptor signaling pathway; protein transport | 2q11.2 |
| UNC5A | axon guidance; apoptotic process; signal transduction; regulation of apoptotic process; multicellular organismal development | 5q35.2 |
| UNC5B | apoptotic process; axon guidance; multicellular organismal development; regulation of apoptotic process; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; signal transduction | 10q22.1 |
| UNC5B-AS1 | - | 10q22.1 |
| UNC5C | apoptotic process; signal transduction; multicellular organismal development; axon guidance; brain development; regulation of cell migration; netrin-activated signaling pathway | 4q21-q23 |
| UNC5CL | signal transduction | 6p21.1 |
| UNC5D | multicellular organismal development; signal transduction; apoptotic process; axon guidance | 8p12 |
| UNC79 | - | 14q32.12 |
| UNC80 | - | 2q35 |
| UNC93A | - | 6q27 |
| UNC93B1 | response to virus; intracellular protein transport; toll-like receptor 7 signaling pathway; toll-like receptor 9 signaling pathway; innate immune response; toll-like receptor 3 signaling pathway | 11q13 |
| UNC93B5 | - | 11q13.2 |
| UNC93B6 | - | 11q13.4 |
| UNG | interspecies interaction between organisms; somatic recombination of immunoglobulin gene segments; somatic hypermutation of immunoglobulin genes; metabolic process; base-excision repair; DNA repair | 12q23-q24.1 |
| UNGP3 | - | 14q31.1 |
| UNK | - | 17q25.1 |
| UNKL | - | 16p13.3 |
| UNQ6494 | - | 9q22.2 |
| UOX | - | 1p22 |
| UPB1 | nucleobase-containing small molecule metabolic process; pyrimidine nucleoside catabolic process; pyrimidine base metabolic process; small molecule metabolic process; nitrogen compound metabolic process | 22q11.2 |
| UPF1 | cell cycle; gene expression; RNA metabolic process; mRNA metabolic process; histone mRNA catabolic process; regulation of translational termination; mRNA export from nucleus; DNA repair; DNA replication; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 19p13.2-p13.11 |
| UPF2 | mRNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; mRNA export from nucleus; RNA metabolic process; gene expression | 10p14-p13 |
| UPF3A | positive regulation of translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; mRNA metabolic process; RNA metabolic process; gene expression; nucleocytoplasmic transport; transport; mRNA transport | 13q34 |
| UPF3AP1 | - | 17p11.2 |
| UPF3AP2 | - | 17p11.2 |
| UPF3B | transport; mRNA export from nucleus; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; positive regulation of translation; nuclear mRNA splicing, via spliceosome; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; mRNA 3'-end processing; nucleocytoplasmic transport; RNA splicing; mRNA metabolic process; RNA metabolic process; gene expression | Xq25-q26 |
| UPK1A | epithelial cell differentiation; protein oligomerization | 19q13.13 |
| UPK1B | epithelial cell differentiation | 3q13.32 |
| UPK2 | multicellular organismal development; cellular membrane organization; epithelial cell differentiation | 11q23 |
| UPK3A | urinary bladder development; potassium ion homeostasis; sodium ion homeostasis; cell morphogenesis; kidney development; water transport; urea transport; epithelial cell differentiation | 22q13.31 |
| UPK3B | negative regulation of gene expression | 7q11.2 |
| UPP1 | small molecule metabolic process; nucleobase-containing compound metabolic process; pyrimidine base metabolic process; pyrimidine nucleotide metabolic process; nucleoside metabolic process; nucleotide catabolic process; pyrimidine nucleoside salvage; pyrimidine nucleoside catabolic process; nucleobase-containing small molecule metabolic process; uridine metabolic process | 7p12.3 |
| UPRT | - | Xq13.3 |
| UQCC1 | - | 20q11.22 |
| UQCC2 | - | 6p21.31 |
| UQCC3 | - | 11q12.3 |
| UQCR10 | small molecule metabolic process; respiratory electron transport chain; transport; mitochondrial electron transport, ubiquinol to cytochrome c | 22q12.2 |
| UQCR11 | ion transmembrane transport; generation of precursor metabolites and energy; transport; proton transport; small molecule metabolic process; respiratory electron transport chain | 19p13.3 |
| UQCRB | oxidation-reduction process; small molecule metabolic process; respiratory electron transport chain; aerobic respiration; transport; mitochondrial electron transport, ubiquinol to cytochrome c; oxidative phosphorylation | 8q22 |
| UQCRC1 | transport; oxidation-reduction process; small molecule metabolic process; response to alkaloid; respiratory electron transport chain; response to activity; aerobic respiration; proteolysis; oxidative phosphorylation; mitochondrial electron transport, ubiquinol to cytochrome c | 3p21.3 |
| UQCRC2 | small molecule metabolic process; respiratory electron transport chain; aerobic respiration; transport; proteolysis; oxidative phosphorylation | 16p12 |
| UQCRFS1 | transport; response to hormone stimulus; respiratory electron transport chain; response to drug; small molecule metabolic process; response to antibiotic; oxidation-reduction process | 19q12 |
| UQCRFS1P1 | response to hormone stimulus; response to drug; response to antibiotic | 22q13.1 |
| UQCRFS1P3 | - | 6p22.3 |
| UQCRHP1 | - | 6p21.33 |
| UQCRHP2 | - | 2p23.3 |
| UQCRHP3 | - | 10q11.21 |
| UQCRQ | midbrain development; subthalamus development; cerebellar Purkinje cell layer development; pons development; transport; hippocampus development; thalamus development; hypothalamus development; pyramidal neuron development; small molecule metabolic process; respiratory electron transport chain | 5q31.1 |
| URAHP | - | 16q24.3 |
| URB1 | - | 21q22.11 |
| URB1-AS1 | - | 21q22.11 |
| URB2 | - | 1q42.13 |
| URGCP | cell cycle | 7p13 |
| URI1 | cellular response to growth factor stimulus; cellular response to steroid hormone stimulus; regulation of apoptotic process; negative regulation of phosphatase activity; response to virus; protein folding; regulation of transcription from RNA polymerase II promoter; regulation of cell growth; negative regulation of transcription from RNA polymerase II promoter | 19q12 |
| URM1 | tRNA wobble uridine modification; tRNA thio-modification; tRNA processing | 9q34.11 |
| UROC1 | small molecule metabolic process; cellular nitrogen compound metabolic process; histidine catabolic process | 3q21.3 |
| UROD | response to ethanol; small molecule metabolic process; uroporphyrinogen III metabolic process; response to mercury ion; response to methylmercury; response to fungicide; cellular response to arsenic-containing substance; liver development; porphyrin-containing compound metabolic process; porphyrin-containing compound biosynthetic process; heme biosynthetic process; response to iron ion; response to organic cyclic compound; response to amine stimulus; response to estradiol stimulus | 1p34 |
| UROS | cellular response to arsenic-containing substance; cellular response to amine stimulus; response to antibiotic; small molecule metabolic process; tetrapyrrole biosynthetic process; heme biosynthetic process; uroporphyrinogen III biosynthetic process; porphyrin-containing compound metabolic process | 10q25.2-q26.3 |
| USB1 | - | 16q21 |
| USE1 | regulation of ER to Golgi vesicle-mediated transport; secretion by cell; protein catabolic process; vesicle-mediated transport; endoplasmic reticulum tubular network organization; protein transport; lysosomal transport; ER to Golgi vesicle-mediated transport | 19p13.11 |
| USF1 | cellular response to insulin stimulus; lipid homeostasis; negative regulation of fibrinolysis; carbon catabolite regulation of transcription; glucose homeostasis; regulation of transcription from RNA polymerase II promoter by glucose; positive regulation of transcription from RNA polymerase II promoter by glucose; response to hypoxia; glucose metabolic process; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; response to UV; late viral mRNA transcription; positive regulation of transcription from RNA polymerase II promoter | 1q22-q23 |
| USF2 | lipid homeostasis; positive regulation of transcription from RNA polymerase II promoter; late viral mRNA transcription; lactation; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter by glucose; regulation of transcription from RNA polymerase II promoter by glucose | 19q13 |
| USF3 | - | 3q13.2 |
| USH1C | neuromuscular process controlling balance; inner ear morphogenesis; parallel actin filament bundle assembly; sensory perception of sound; auditory receptor cell differentiation; G2/M transition of mitotic cell cycle; photoreceptor cell maintenance; sensory perception of light stimulus; equilibrioception | 11p14.3 |
| USH2A | photoreceptor cell maintenance; inner ear receptor cell differentiation; sensory perception of light stimulus; maintenance of organ identity; response to stimulus; sensory perception of sound | 1q41 |
| USHBP1 | - | 19p13 |
| USMG5 | - | 10q24.33 |
| USMG5P1 | - | Xq13.2 |
| USO1 | intracellular protein transport; vesicle fusion with Golgi apparatus | 4q21.1 |
| USP1 | regulation of DNA repair; DNA repair; proteolysis; ubiquitin-dependent protein catabolic process; protein deubiquitination; response to UV; monoubiquitinated protein deubiquitination | 1p31.3 |
| USP10 | DNA repair; proteolysis; ubiquitin-dependent protein catabolic process; DNA damage response, signal transduction by p53 class mediator; protein deubiquitination | 16q24.1 |
| USP10P2 | - | 14q11.1 |
| USP11 | proteolysis; ubiquitin-dependent protein catabolic process; protein deubiquitination | Xp11.23 |
| USP12 | ubiquitin-dependent protein catabolic process; protein modification process; proteolysis; protein deubiquitination | 13q12.13 |
| USP12-AS2 | - | - |
| USP13 | ubiquitin-dependent protein catabolic process; proteolysis | 3q26.2-q26.3 |
| USP14 | proteolysis; ubiquitin-dependent protein catabolic process; synaptic transmission; regulation of proteasomal protein catabolic process; regulation of chemotaxis; negative regulation of endopeptidase activity | 18p11.32 |
| USP15 | protein deubiquitination; ubiquitin-dependent protein catabolic process; proteolysis | 12q14 |
| USP16 | chromatin modification; proteolysis; mitosis; cell cycle; ubiquitin-dependent protein catabolic process; histone deubiquitination; positive regulation of transcription, DNA-dependent; protein homotetramerization; cell division | 21q22.11 |
| USP17L22 | - | 4p16.1 |
| USP17L25 | - | 4p16.1 |
| USP17L7 | ubiquitin-dependent protein catabolic process | 8p23.1 |
| USP18 | regulation of type I interferon-mediated signaling pathway; type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway; proteolysis; ubiquitin-dependent protein catabolic process | 22q11.21 |
| USP19 | protein deubiquitination; skeletal muscle atrophy; regulation of cellular response to hypoxia; positive regulation of cell cycle process; proteolysis; ubiquitin-dependent protein catabolic process; negative regulation of skeletal muscle tissue development; response to endoplasmic reticulum stress; ER-associated protein catabolic process; regulation of protein stability | 3p21.31 |
| USP2 | cell cycle; protein stabilization; positive regulation of skeletal muscle tissue development; negative regulation of skeletal muscle tissue development; negative regulation of transcription from RNA polymerase II promoter; proteolysis; positive regulation of mitotic cell cycle; ubiquitin-dependent protein catabolic process; muscle organ development; protein deubiquitination | 11q23.3 |
| USP2-AS1 | - | 11q23 |
| USP20 | protein deubiquitination; proteolysis; ubiquitin-dependent protein catabolic process; endocytosis; regulation of G-protein coupled receptor protein signaling pathway; protein K63-linked deubiquitination; protein K48-linked deubiquitination | 9q34.11 |
| USP21 | positive regulation of transcription, DNA-dependent; histone deubiquitination; chromatin modification; ubiquitin-dependent protein catabolic process; proteolysis; protein modification process | 1q22 |
| USP22 | histone deubiquitination; proteolysis; histone ubiquitination; chromatin modification; embryo development; cell cycle; protein deubiquitination; histone H4 acetylation; ubiquitin-dependent protein catabolic process; positive regulation of transcription, DNA-dependent; positive regulation of mitotic cell cycle | 17p11.2 |
| USP24 | proteolysis; ubiquitin-dependent protein catabolic process | 1p32.3 |
| USP24P1 | - | - |
| USP25 | protein K63-linked deubiquitination; protein modification process; proteolysis; ubiquitin-dependent protein catabolic process; protein K48-linked deubiquitination | 21q11.2 |
| USP27X | proteolysis; ubiquitin-dependent protein catabolic process | Xp11.23 |
| USP27X-AS1 | - | Xp11.23 |
| USP28 | DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; DNA damage checkpoint; DNA repair; proteolysis; ubiquitin-dependent protein catabolic process; response to DNA damage stimulus; cell proliferation; response to ionizing radiation; protein deubiquitination; cellular response to UV | 11q23 |
| USP3 | mitotic cell cycle; DNA repair; proteolysis; ubiquitin-dependent protein catabolic process; regulation of protein stability; histone deubiquitination; chromatin modification | 15q22.3 |
| USP3-AS1 | - | 15q22.31 |
| USP30 | proteolysis; ubiquitin-dependent protein catabolic process | 12q24.11 |
| USP30-AS1 | - | 12q24.11 |
| USP31 | proteolysis; ubiquitin-dependent protein catabolic process | 16p12.2 |
| USP32 | protein deubiquitination; ubiquitin-dependent protein catabolic process; proteolysis | 17q23.3 |
| USP32P1 | - | 17p11.2 |
| USP32P2 | - | 17p11.2 |
| USP32P3 | - | 17p11.1 |
| USP33 | endocytosis; protein K48-linked deubiquitination; protein K63-linked deubiquitination; ubiquitin-dependent protein catabolic process; proteolysis; protein deubiquitination; cell migration; regulation of G-protein coupled receptor protein signaling pathway; axon guidance | 1p31.1 |
| USP34 | proteolysis; ubiquitin-dependent protein catabolic process; Wnt receptor signaling pathway; protein K48-linked deubiquitination; positive regulation of canonical Wnt receptor signaling pathway | 2p15 |
| USP35 | ubiquitin-dependent protein catabolic process; proteolysis | 11q14.1 |
| USP36 | ubiquitin-dependent protein catabolic process; proteolysis | 17q25.3 |
| USP37 | G1/S transition of mitotic cell cycle; mitosis; protein K11-linked deubiquitination; cell division; cell cycle; proteolysis; protein K48-linked deubiquitination; ubiquitin-dependent protein catabolic process | 2q35 |
| USP38 | proteolysis; ubiquitin-dependent protein catabolic process | - |
| USP39 | ubiquitin-dependent protein catabolic process; spliceosome assembly; mRNA processing; RNA splicing | 2p11.2 |
| USP4 | protein localization at cell surface; regulation of protein stability; negative regulation of protein ubiquitination; protein deubiquitination; ubiquitin-dependent protein catabolic process; proteolysis | 3p21.3 |
| USP40 | ubiquitin-dependent protein catabolic process; proteolysis | 2q37.1 |
| USP41 | proteolysis; ubiquitin-dependent protein catabolic process | 22q11.21 |
| USP42 | protein deubiquitination; spermatogenesis; ubiquitin-dependent protein catabolic process; proteolysis; cell differentiation | 7p22.1 |
| USP43 | proteolysis; ubiquitin-dependent protein catabolic process | 17p13.1 |
| USP44 | cell division; regulation of spindle checkpoint; negative regulation of mitotic anaphase-promoting complex activity; proteolysis; ubiquitin-dependent protein catabolic process; cell cycle; mitosis; anaphase; protein deubiquitination | 12q22 |
| USP45 | ubiquitin-dependent protein catabolic process; proteolysis | 6q16.2 |
| USP46 | behavior; ubiquitin-dependent protein catabolic process; protein deubiquitination; regulation of synaptic transmission, GABAergic; proteolysis | 4q12 |
| USP46-AS1 | - | 4q12 |
| USP47 | monoubiquitinated protein deubiquitination; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; proteolysis; negative regulation of transcription, DNA-dependent; ubiquitin-dependent protein catabolic process; base-excision repair; negative regulation of apoptotic process; response to drug; cellular response to UV; positive regulation of cell growth; negative regulation of G2/M transition of mitotic cell cycle; response to DNA damage stimulus | 11p15.3 |
| USP48 | ubiquitin-dependent protein catabolic process; proteolysis | 1p36.12 |
| USP49 | ubiquitin-dependent protein catabolic process; proteolysis | 6p21 |
| USP5 | proteolysis; protein K48-linked deubiquitination; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; ubiquitin-dependent protein catabolic process | 12p13 |
| USP50 | ubiquitin-dependent protein catabolic process | 15q21.1 |
| USP51 | proteolysis; ubiquitin-dependent protein catabolic process | Xp11.21 |
| USP53 | ubiquitin-dependent protein catabolic process | 4q26 |
| USP54 | ubiquitin-dependent protein catabolic process | 10q22.2 |
| USP6 | protein deubiquitination; regulation of vesicle-mediated transport; protein modification process; proteolysis; ubiquitin-dependent protein catabolic process | 17p13 |
| USP6NL | - | 10p13 |
| USP7 | ubiquitin-dependent protein catabolic process; proteolysis; induction of apoptosis; multicellular organismal development; regulation of sequence-specific DNA binding transcription factor activity; protein deubiquitination; regulation of protein stability; interspecies interaction between organisms | 16p13.3 |
| USP8 | Ras protein signal transduction; protein K48-linked deubiquitination; cell cycle; proteolysis; cell proliferation; protein K63-linked deubiquitination; endosome organization; ubiquitin-dependent protein catabolic process | 15q21.2 |
| USP9X | BMP signaling pathway; cell cycle; cell division; female gamete generation; transforming growth factor beta receptor signaling pathway; mitosis; proteolysis; protein deubiquitination; chromosome segregation; ubiquitin-dependent protein catabolic process | Xp11.4 |
| USP9Y | BMP signaling pathway; protein deubiquitination; spermatogenesis; transforming growth factor beta receptor signaling pathway; ubiquitin-dependent protein catabolic process; proteolysis | Yq11.2 |
| USPL1 | ubiquitin-dependent protein catabolic process | 13q12-q14 |
| UST | protein sulfation | 6q25.1 |
| UTF1 | regulation of transcription from RNA polymerase II promoter; male gonad development; positive regulation of transcription from RNA polymerase II promoter | 10q26 |
| UTP11L | nerve growth factor receptor signaling pathway; nervous system development; induction of apoptosis; rRNA processing | 1p34.3 |
| UTP14A | rRNA processing | Xq26.1 |
| UTP14C | cell differentiation; multicellular organismal development; spermatogenesis; rRNA processing; meiosis | 13q14.2 |
| UTP15 | rRNA processing | 5q13.2 |
| UTP18 | rRNA processing | 17q21.33 |
| UTP20 | negative regulation of cell proliferation; rRNA processing; endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 12q23 |
| UTP23 | rRNA processing | 8q24.11 |
| UTP3 | chromatin modification; gene silencing; brain development; multicellular organismal development | 4q13.3 |
| UTP4 | - | 16q22.1 |
| UTP6 | RNA processing; rRNA processing | 17q11.2 |
| UTRN | positive regulation of cell-matrix adhesion; muscle contraction; muscle organ development | 6q24 |
| UTS2 | regulation of blood pressure; synaptic transmission; muscle contraction | 1p36 |
| UTS2B | - | 3q28 |
| UTS2R | positive regulation of cell growth; positive regulation of fibroblast proliferation; positive regulation of circadian sleep/wake cycle, REM sleep; positive regulation of vasoconstriction; positive regulation of blood pressure; negative regulation of blood pressure; positive regulation of angiogenesis; response to drug; negative regulation of renal sodium excretion; negative regulation of urine volume; positive regulation of circadian sleep/wake cycle, wakefulness; blood circulation; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway; signal transduction; negative regulation of glomerular filtration | 17q25.3 |
| UTY | chromatin modification | Yq11 |
| UVRAG | DNA repair; positive regulation of autophagy | 11q13.5 |
| UVSSA | - | 4p16.3 |
| UXS1 | cellular metabolic process | 2q12.2 |
| UXT | mitochondrion transport along microtubule; centrosome organization; protein folding; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; microtubule cytoskeleton organization | Xp11.23-p11.22 |
| VAC14 | signal transduction; interspecies interaction between organisms | 16q22.1 |
| VAC14-AS1 | - | 16q22.2 |
| VAMP1 | neurotransmitter secretion; synaptic transmission; vesicle-mediated transport | 12p |
| VAMP2 | cellular membrane fusion; regulation of insulin secretion; small molecule metabolic process; regulation of exocytosis; calcium ion-dependent exocytosis; vesicle-mediated transport; cellular membrane organization; synaptic transmission; post-Golgi vesicle-mediated transport; energy reserve metabolic process; neurotransmitter secretion; synaptic vesicle exocytosis; glutamate secretion | 17p13.1 |
| VAMP3 | retrograde transport, endosome to Golgi; cellular membrane fusion; positive regulation of receptor recycling; vesicle-mediated transport; vesicle docking involved in exocytosis; exocytosis; calcium ion-dependent exocytosis; substrate adhesion-dependent cell spreading; protein complex assembly; protein transport | 1p36.23 |
| VAMP4 | vesicle-mediated transport | 1q24-q25 |
| VAMP5 | cell differentiation; vesicle-mediated transport; multicellular organismal development; muscle organ development; skeletal muscle tissue development | 2p11.2 |
| VAMP7 | ER to Golgi vesicle-mediated transport; neutrophil degranulation; eosinophil degranulation; calcium ion-dependent exocytosis; vesicle-mediated transport; protein transport; post-Golgi vesicle-mediated transport; vesicle fusion; phagocytosis, engulfment; cellular membrane organization; endosome to lysosome transport | Xq28 and Yq12 |
| VAMP8 | protein complex assembly; post-Golgi vesicle-mediated transport; vesicle fusion; cellular membrane organization | 2p12-p11.2 |
| VANGL1 | multicellular organismal development | 1p13.1 |
| VANGL2 | establishment or maintenance of epithelial cell apical/basal polarity; apical protein localization; wound healing; convergent extension involved in axis elongation; somatic stem cell division; establishment of body hair planar orientation; inner ear receptor stereocilium organization; digestive tract morphogenesis; planar cell polarity pathway involved in axis elongation; heart looping; membranous septum morphogenesis; hair follicle development; neural tube closure; establishment of planar polarity; planar dichotomous subdivision of terminal units involved in lung branching morphogenesis; lateral sprouting involved in lung morphogenesis; cochlea morphogenesis; muscular septum morphogenesis; cell migration involved in kidney development; Rho protein signal transduction; multicellular organismal development; anterior/posterior pattern specification; convergent extension involved in neural plate elongation; regulation of actin cytoskeleton organization; establishment of planar polarity involved in neural tube cl | 1q22-q23 |
| VAPA | small molecule metabolic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; sphingolipid metabolic process; neuron projection development; sphingolipid biosynthetic process; protein localization in endoplasmic reticulum; signal transduction; cell death; cellular membrane fusion | 18p11.22 |
| VAPB | sphingolipid metabolic process; sphingolipid biosynthetic process; positive regulation of viral genome replication; interspecies interaction between organisms; cell death; small molecule metabolic process; virus-host interaction; endoplasmic reticulum unfolded protein response | 20q13.33 |
| VARS | gene expression; valyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; translational elongation | 6p21.3 |
| VARS2 | tRNA aminoacylation for protein translation; valyl-tRNA aminoacylation; gene expression | 6p21.33 |
| VASH1 | negative regulation of endothelial cell proliferation; cell cycle; cell cycle arrest; negative regulation of angiogenesis; negative regulation of blood vessel endothelial cell migration | 14q24.3 |
| VASH2 | positive regulation of endothelial cell proliferation; positive regulation of angiogenesis | 1q32.3 |
| VASN | - | 16p13.3 |
| VASP | T cell receptor signaling pathway; neural tube closure; axon guidance; actin polymerization or depolymerization; actin cytoskeleton organization; protein homotetramerization; cell junction assembly | 19q13.32 |
| VAT1 | - | 17q21 |
| VAT1L | - | 16q23.1 |
| VAV1 | blood coagulation; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; positive regulation of cell adhesion; regulation of GTPase activity; T cell activation; regulation of Rho protein signal transduction; T cell costimulation; platelet activation; induction of apoptosis by extracellular signals; small GTPase mediated signal transduction; integrin-mediated signaling pathway; immune response; apoptotic process; phagocytosis; regulation of transcription, DNA-dependent | 19p13.2 |
| VAV2 | angiogenesis; apoptotic process; signal transduction; regulation of small GTPase mediated signal transduction; regulation of catalytic activity; nerve growth factor receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase activity; regulation of Rho protein signal transduction; platelet activation; lamellipodium assembly; cell migration; induction of apoptosis by extracellular signals; blood coagulation; axon guidance; small GTPase mediated signal transduction | 9q34.1 |
| VAV3 | response to drug; cell migration; positive regulation of GTPase activity; positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of cell adhesion; nerve growth factor receptor signaling pathway; regulation of catalytic activity; B cell receptor signaling pathway; regulation of small GTPase mediated signal transduction; vesicle fusion; angiogenesis; apoptotic process; response to DNA damage stimulus; positive regulation of B cell proliferation; platelet activation; lamellipodium assembly; induction of apoptosis by extracellular signals; blood coagulation; regulation of Rho protein signal transduction; integrin-mediated signaling pathway; small GTPase mediated signal transduction | 1p13.3 |
| VAV3-AS1 | - | - |
| VAX1 | palate development; negative regulation of transcription from RNA polymerase II promoter; axon guidance; camera-type eye development; cell differentiation; brain development; neuron migration; multicellular organismal development; negative regulation of neuroblast proliferation | 10q26.1 |
| VAX2 | dorsal/ventral axis specification; embryonic eye morphogenesis; retina development in camera-type eye; visual perception; axonogenesis; ectoderm development; multicellular organismal development; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 2p13 |
| VBP1 | cellular protein metabolic process; 'de novo' posttranslational protein folding; protein folding | Xq28 |
| VCAM1 | chorio-allantoic fusion; embryonic placenta morphogenesis; leukocyte tethering or rolling; heart development; interferon-gamma-mediated signaling pathway; positive regulation of T cell proliferation; B cell differentiation; membrane to membrane docking; cytokine-mediated signaling pathway; response to ionizing radiation; response to nutrient; aging; leukocyte cell-cell adhesion; heterophilic cell-cell adhesion; cell adhesion; chronic inflammatory response; acute inflammatory response; response to hypoxia; interspecies interaction between organisms; regulation of immune response | 1p32-p31 |
| VCAN | axon regeneration; response to wounding; glial cell migration; cell recognition; heart development; multicellular organismal development; cell adhesion | 5q14.3 |
| VCL | epithelial cell-cell adhesion; protein localization at cell surface; adherens junction assembly; negative regulation of cell migration; regulation of cell migration; platelet activation; lamellipodium assembly; blood coagulation; apical junction assembly; cell-matrix adhesion; cell adhesion; muscle contraction; cellular component movement; platelet degranulation; morphogenesis of an epithelium | 10q22.2 |
| VCP | protein homooligomerization; aggresome assembly; ATP catabolic process; establishment of protein localization; positive regulation of protein catabolic process; regulation of apoptotic process; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein complex assembly; retrograde protein transport, ER to cytosol; endoplasmic reticulum unfolded protein response; ER-associated protein catabolic process; protein ubiquitination; cell death; response to DNA damage stimulus; activation of cysteine-type endopeptidase activity involved in apoptotic process; ER to Golgi vesicle-mediated transport; transport; double-strand break repair; DNA repair; proteasomal ubiquitin-dependent protein catabolic process | 9p13.3 |
| VCPIP1 | Golgi reassembly; protein ubiquitination; endoplasmic reticulum membrane fusion; mitosis; proteolysis | 8q13 |
| VCPKMT | - | 14q21.3 |
| VCX | chromatin organization; spermatogenesis; ribosome assembly | Xp22 |
| VCX2 | - | Xp22.32 |
| VCX3A | brain development | Xp22 |
| VCX3B | - | Xp22.31 |
| VCY1B | - | Yq11.21 |
| VDAC1 | behavioral fear response; anion transport; apoptotic process; neuron-neuron synaptic transmission; learning; regulation of ion transmembrane transport; regulation of anion transport; interspecies interaction between organisms; transmembrane transport | 5q31 |
| VDAC1P1 | - | Xq21.1 |
| VDAC1P10 | - | 1q41 |
| VDAC1P11 | - | - |
| VDAC1P2 | - | Xp11.2 |
| VDAC1P5 | - | 12q13.2 |
| VDAC1P6 | - | Yp11.2 |
| VDAC2 | anion transport; regulation of anion transport; transmembrane transport | 10q22 |
| VDAC2P1 | - | 21q11.2 |
| VDAC2P2 | - | 12p13.31 |
| VDAC3 | transmembrane transport; regulation of anion transport; adenine transport | 8p11.2 |
| VDR | regulation of calcidiol 1-monooxygenase activity; vitamin D receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; cell morphogenesis; signal transduction; negative regulation of cell proliferation; gene expression; positive regulation of gene expression; negative regulation of keratinocyte proliferation; positive regulation of vitamin D 24-hydroxylase activity; positive regulation of keratinocyte differentiation; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; decidualization | 12q13.11 |
| VEGFA | macrophage differentiation; camera-type eye morphogenesis; cell maturation; lung alveolus development; mRNA stabilization; vascular endothelial growth factor receptor signaling pathway; platelet-derived growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell adhesion; negative regulation of bone resorption; positive regulation of angiogenesis; positive regulation of blood vessel endothelial cell migration; positive regulation of MAP kinase activity; surfactant homeostasis; positive regulation of vascular permeability; positive regulation of smooth muscle cell proliferation; cardiac muscle fiber development; artery morphogenesis; positive regulation of peptidyl-tyrosine phosphorylation; positive chemotaxis; positive regulation of positive chemotaxis; induction of positive chemotaxis; positive regulation of cellular component movement; positive regulation of cell division; primitive erythrocyte differentiation; mammary gland alv | 6p12 |
| VEGFB | positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of ERK1 and ERK2 cascade; coronary vasculature development; positive regulation of mast cell chemotaxis; positive regulation of protein kinase B signaling cascade; platelet activation; platelet degranulation; protein O-linked glycosylation; cardiac muscle contraction; anti-apoptosis; blood coagulation; negative regulation of gene expression; positive regulation of vascular endothelial growth factor receptor signaling pathway; positive regulation of vascular permeability; positive regulation of cell division; induction of positive chemotaxis; positive chemotaxis; positive regulation of endothelial cell proliferation; vascular endothelial growth factor receptor signaling pathway; negative regulation of neuron apoptosis; positive regulation of vascular wound healing | 11q13 |
| VEGFC | positive regulation of blood vessel endothelial cell migration; negative regulation of blood pressure; vascular endothelial growth factor receptor signaling pathway; positive regulation of epithelial cell proliferation; positive regulation of protein secretion; positive chemotaxis; induction of positive chemotaxis; positive regulation of cell division; positive regulation of mast cell chemotaxis; positive regulation of protein autophosphorylation; regulation of vascular endothelial growth factor receptor signaling pathway; platelet activation; cell differentiation; morphogenesis of embryonic epithelium; organ morphogenesis; positive regulation of cell proliferation; blood coagulation; response to drug; angiogenesis; positive regulation of neuroblast proliferation; platelet degranulation; multicellular organismal development; signal transduction; substrate-dependent cell migration | 4q34.3 |
| VENTXP2 | - | 13q31.1 |
| VENTXP6 | - | 8q21.11 |
| VEPH1 | - | 3q24-q25 |
| VEZF1 | cellular defense response; angiogenesis; endothelial cell development; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter | 17q22 |
| VEZF1P1 | - | 3q29 |
| VEZT | cell-cell adhesion; chordate embryonic development | 12q22 |
| VGF | regulation of neuronal synaptic plasticity; penile erection; glucose homeostasis; response to insulin stimulus; insulin secretion; sexual reproduction; response to cold; generation of precursor metabolites and energy; response to dietary excess; ovarian follicle development; response to cAMP | 7q22.1 |
| VGLL1 | regulation of transcription, DNA-dependent | Xq26.3 |
| VGLL2 | skeletal muscle tissue development; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 6q22.1 |
| VGLL3 | regulation of transcription, DNA-dependent | 3p12.1 |
| VGLL4 | regulation of transcription, DNA-dependent | 3p25.3 |
| VHL | cell morphogenesis; negative regulation of transcription from RNA polymerase II promoter; protein stabilization; positive regulation of transcription, DNA-dependent; positive regulation of cell differentiation; blood vessel endothelial cell migration; response to ethanol; extracellular matrix organization; neuron differentiation; protein catabolic process; protein ubiquitination; negative regulation of cell proliferation; response to stress; anti-apoptosis; proteolysis; regulation of transcription, DNA-dependent; response to hypoxia; angiogenesis; regulation of catecholamine metabolic process | 3p25.3 |
| VHLL | protein ubiquitination | 1q22 |
| VIL1 | regulation of lamellipodium morphogenesis; cellular response to epidermal growth factor stimulus; regulation of wound healing; cytoplasmic actin-based contraction involved in cell motility; protein complex assembly; epidermal growth factor receptor signaling pathway; regulation of cell shape; response to bacterium; positive regulation of epithelial cell migration; negative regulation of endopeptidase activity; actin filament polymerization; actin filament depolymerization; positive regulation of cell migration; cytoskeleton organization; actin filament capping; positive regulation of actin filament bundle assembly; cellular response to hepatocyte growth factor stimulus; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; actin filament severing; regulation of actin nucleation | 2q35 |
| VILL | actin filament capping; cytoskeleton organization | 3p21.3 |
| VIM | interspecies interaction between organisms; muscle filament sliding; cellular component movement; cellular component disassembly involved in apoptosis; apoptotic process | 10p13 |
| VIM-AS1 | - | - |
| VIMP | - | 15q26.3 |
| VIP | body fluid secretion; positive regulation of cell proliferation; G-protein coupled receptor signaling pathway | 6q25 |
| VIPAS39 | - | 14q24.3-q31 |
| VIPR1 | immune response; muscle contraction; G-protein coupled receptor signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; synaptic transmission; digestion; positive regulation of cell proliferation | 3p22 |
| VIPR2 | signal transduction; G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity; cell-cell signaling | 7q36.3 |
| VIT | - | 2p22.2 |
| VKORC1 | response to organic cyclic compound; positive regulation of coagulation; response to antibiotic; cellular protein metabolic process; post-translational protein modification; vitamin K metabolic process; response to organic nitrogen; drug metabolic process; peptidyl-glutamic acid carboxylation; regulation of blood coagulation | 16p11.2 |
| VKORC1L1 | - | 7q11.21 |
| VLDLR | lipid transport; cellular response to hypoxia; cellular response to interleukin-1; cellular response to lipopolysaccharide; positive regulation of protein kinase activity; response to drug; signal transduction; response to nutrient; memory; steroid metabolic process; cholesterol metabolic process; response to hormone stimulus; cellular response to glucose starvation; heart development; nervous system development; receptor-mediated endocytosis; transport; ventral spinal cord development; cerebral cortex development; cellular response to insulin stimulus; glycoprotein transport; very-low-density lipoprotein particle clearance | 9p24 |
| VLDLR-AS1 | - | 9p24.2 |
| VMA21 | vacuolar proton-transporting V-type ATPase complex assembly | Xq28 |
| VMAC | - | 19p13.3 |
| VMO1 | vitelline membrane formation | 17p13.2 |
| VMP1 | regulation of autophagy; cell-cell adhesion; cell junction assembly | 17q23.1 |
| VN1R1 | response to pheromone | 19q13.4 |
| VN1R103P | - | 19q13.42 |
| VN1R108P | - | 20p11.1 |
| VN1R110P | - | Xp11.23 |
| VN1R13P | - | 6p21 |
| VN1R17P | response to pheromone | 1q44 |
| VN1R2 | response to pheromone | 19q13.42 |
| VN1R20P | - | 3p25.1 |
| VN1R28P | - | 7p11.2 |
| VN1R3 | response to pheromone | 16p11.2 |
| VN1R32P | - | 7q11.21 |
| VN1R42P | - | 7q11.21 |
| VN1R46P | - | 8p11.21 |
| VN1R51P | - | 9q22.33 |
| VN1R68P | - | 16p11.2 |
| VN1R6P | - | 19q13.42 |
| VN1R78P | - | 19p12 |
| VN2R10P | - | 16q23.1 |
| VN2R17P | - | 19q13.43 |
| VN2R19P | - | 19q13.43 |
| VN2R1P | - | 3q25.31 |
| VN2R20P | - | 21q21.2 |
| VN2R3P | - | 9p13.1 |
| VN2R9P | - | 11q12.1 |
| VNN1 | chronic inflammatory response; positive regulation of T cell differentiation in thymus; innate immune response; cell-cell adhesion; pantothenate metabolic process; response to oxidative stress; inflammatory response; cellular component movement; anti-apoptosis; acute inflammatory response; nitrogen compound metabolic process | 6q23-q24 |
| VNN2 | pantothenate metabolic process; nitrogen compound metabolic process; cellular component movement | 6q23-q24 |
| VNN3 | nitrogen compound metabolic process | 6q23.2 |
| VOPP1 | signal transduction; regulation of transcription, DNA-dependent | 7p11.2 |
| VPRBP | interspecies interaction between organisms | 3p21.2 |
| VPREB1 | immune response | 22q11.22 |
| VPS11 | intracellular protein transport; vesicle-mediated transport | 11q23 |
| VPS13A | protein transport; social behavior; protein localization; locomotory behavior; nervous system development; Golgi to endosome transport | 9q21 |
| VPS13A-AS1 | - | 9q21.2 |
| VPS13B | protein localization; protein transport | 8q22.2 |
| VPS13C | protein localization | 15q22.2 |
| VPS13D | protein localization | 1p36.22 |
| VPS16 | intracellular protein transport | 20p13 |
| VPS18 | vesicle-mediated transport; intracellular protein transport; lysosome organization; endosome organization | 15q14-q15 |
| VPS25 | regulation of transcription, DNA-dependent; protein transport; cellular membrane organization; endosome transport | 17q21.31 |
| VPS25P1 | - | 1p12 |
| VPS26A | vacuolar transport; retrograde transport, endosome to Golgi; protein transport | 10q21.1 |
| VPS26B | protein transport; vacuolar transport | 11q25 |
| VPS28 | protein transport; viral reproduction; cellular membrane organization; endosome transport; negative regulation of protein ubiquitination; egress of virus within host cell | 8q24.3 |
| VPS29 | protein transport | 12q24 |
| VPS33A | vesicle docking involved in exocytosis; regulation of developmental pigmentation; pigmentation; lysosome localization; melanosome localization; platelet formation; vesicle-mediated transport; protein transport | 12q24.31 |
| VPS33B | platelet alpha granule organization; vesicle docking involved in exocytosis; cellular membrane fusion; protein transport; vesicle-mediated transport; melanosome localization; lysosome localization | 15q26.1 |
| VPS35 | retrograde transport, endosome to Golgi; protein transport; cell death | 16q12 |
| VPS36 | regulation of transcription, DNA-dependent; cellular membrane organization; endosome transport; protein transport | 13q14.3 |
| VPS37A | endosome transport; cellular membrane organization; viral reproduction; egress of virus within host cell; protein transport | 8p22 |
| VPS37B | egress of virus within host cell; cellular membrane organization; endosome transport; protein transport; viral reproduction | 12q24.31 |
| VPS37C | viral reproduction; egress of virus within host cell; endosome transport; protein transport; cellular membrane organization | 11q12.2 |
| VPS37D | protein transport; viral reproduction; cellular membrane organization; endosome transport; egress of virus within host cell | 7q11.23 |
| VPS39 | protein transport | 15q15.1 |
| VPS41 | Golgi vesicle transport; intracellular protein transport; vesicle-mediated transport | 7p14-p13 |
| VPS45 | vesicle-mediated transport; blood coagulation; vesicle docking involved in exocytosis; intracellular protein transport | 1q21.2 |
| VPS4A | endosome transport; vesicle-mediated transport; cellular membrane organization; protein transport; cell cycle; cytokinesis | 16q22.1 |
| VPS4B | intracellular cholesterol transport; endosome to lysosome transport via multivesicular body sorting pathway; cellular membrane organization; endosome transport; protein transport; response to lipid; endosome organization; cell division; potassium ion transport; ATP catabolic process; cell cycle | 18q21.33 |
| VPS50 | - | 7q21.3 |
| VPS51 | - | 11q13 |
| VPS52 | protein transport | 6p21.3 |
| VPS53 | protein transport | 17p13.3 |
| VPS54 | neurofilament cytoskeleton organization; musculoskeletal movement; homeostasis of number of cells within a tissue; retrograde transport, endosome to Golgi; growth; protein transport | 2p13-p14 |
| VPS72 | somatic stem cell maintenance; chromatin modification; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 1q21 |
| VPS8 | - | 3q27.2 |
| VPS9D1 | - | 16q24 |
| VPS9D1-AS1 | - | 16q24.3 |
| VRK1 | Golgi disassembly; cell division; protein autophosphorylation; mitosis; cell cycle; protein phosphorylation | 14q32 |
| VRK2 | regulation of MAPK cascade; protein phosphorylation; response to oxidative stress; interspecies interaction between organisms; protein autophosphorylation; regulation of interleukin-1-mediated signaling pathway | 2p16.1 |
| VRK3 | negative regulation of ERK1 and ERK2 cascade; positive regulation of phosphoprotein phosphatase activity | 19q13 |
| VRTN | transposition, DNA-mediated | 14q24.3 |
| VSIG1 | - | Xq22.3 |
| VSIG10 | - | 12q24.23 |
| VSIG10L | - | 19q13.41 |
| VSIG2 | - | 11q24 |
| VSIG4 | complement activation, alternative pathway; negative regulation of interleukin-2 production; negative regulation of T cell proliferation | Xq12-q13.3 |
| VSIG8 | - | 1q23.2 |
| VSNL1 | - | 2p24.3 |
| VSTM1 | - | 19q13.42 |
| VSTM2A | - | 7p11.2 |
| VSTM2A-OT1 | - | 7p11.2 |
| VSTM2B | - | 19q12 |
| VSTM2L | - | 20q11.23 |
| VSTM4 | - | 10q11.23 |
| VSTM5 | - | 11q21 |
| VSX1 | regulation of transcription, DNA-dependent; visual perception; neuron maturation; multicellular organismal development; retinal bipolar neuron differentiation; response to stimulus | 20p11.21 |
| VSX2 | camera-type eye development; multicellular organismal development; positive regulation of cell proliferation; cell fate commitment; response to stimulus; positive regulation of transcription from RNA polymerase II promoter; negative regulation of cell proliferation; retinal bipolar neuron differentiation; visual perception | 14q24.3 |
| VTA1 | endosome transport; cellular membrane organization; protein transport | 6q24.1 |
| VTCN1 | negative regulation of T cell activation | 1p13.1 |
| VTI1A | ER to Golgi vesicle-mediated transport; vesicle-mediated transport; retrograde transport, endosome to Golgi; vesicle fusion with Golgi apparatus; intracellular protein transport | 10q25.2 |
| VTI1B | intracellular protein transport; vesicle docking involved in exocytosis; cellular membrane fusion; cell proliferation; vesicle-mediated transport | 14q24.1 |
| VTI1BP2 | - | 4q35.1 |
| VTI1BP3 | - | 12q13.13 |
| VTRNA1-2 | - | 5q31.3 |
| VTRNA1-3 | - | 5q31.3 |
| VTRNA3-1P | - | Xp11.22 |
| VWA1 | extracellular matrix organization | 1p36.33 |
| VWA2 | - | 10q25.3 |
| VWA3A | - | 16p12.2 |
| VWA3B | - | 2q11.2 |
| VWA5A | - | 11q24.1 |
| VWA5B1 | - | 1p36.12 |
| VWA5B2 | - | 3q27.1 |
| VWA7 | - | 6p21.33 |
| VWA8 | - | 13q14.11 |
| VWA9 | - | 15q22.31 |
| VWC2L | - | 2q34-q35 |
| VWCE | - | 11q12.2 |
| VWDE | - | 7p21.3 |
| VWF | protein homooligomerization; cell-substrate adhesion; platelet activation; response to wounding; platelet degranulation; hemostasis; placenta development; liver development; blood coagulation, intrinsic pathway; blood coagulation; cell adhesion | 12p13.3 |
| WAC | response to DNA damage stimulus; cell cycle checkpoint; histone H2B conserved C-terminal lysine ubiquitination; positive regulation of transcription, DNA-dependent; chromatin modification; histone monoubiquitination | 10p12.1|10p12.1-p11.2 |
| WAC-AS1 | - | 10p11.23 |
| WAPL | regulation of cohesin localization to chromatin; protein localization to chromatin; cell cycle; cell division; response to toxin; negative regulation of sister chromatid cohesion; interspecies interaction between organisms; negative regulation of chromatin binding; negative regulation of DNA replication; mitosis | 10q23.2 |
| WARS | gene expression; regulation of angiogenesis; negative regulation of cell proliferation; tryptophanyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; translation | 14q32.31 |
| WARS2 | vasculogenesis; tRNA aminoacylation for protein translation; tryptophanyl-tRNA aminoacylation; gene expression | 1p12 |
| WARS2-IT1 | - | 1p12 |
| WAS | T cell activation; T cell receptor signaling pathway; actin filament-based movement; actin filament polymerization; endosome transport; protein complex assembly; defense response; immune response; blood coagulation; actin polymerization or depolymerization; epidermis development | Xp11.4-p11.21 |
| WASF1 | protein complex assembly; cellular component movement; actin filament polymerization | 6q21 |
| WASF2 | lamellipodium assembly; actin cytoskeleton organization; actin filament-based movement; G-protein signaling, coupled to cAMP nucleotide second messenger; angiogenesis; ameboidal cell migration; endocytosis; Rac protein signal transduction | 1p36.11 |
| WASF3 | regulation of cell shape; cytoskeleton organization; protein complex assembly; actin filament polymerization | 13q12 |
| WASF4P | - | Xp11.23 |
| WASH1 | transport; endosome transport; Arp2/3 complex-mediated actin nucleation; retrograde transport, endosome to Golgi | 9p24.3 |
| WASH3P | retrograde transport, endosome to Golgi; Arp2/3 complex-mediated actin nucleation; endosome transport; transport | 15q26.3 |
| WASH5P | - | 19p13.3 |
| WASH6P | Arp2/3 complex-mediated actin nucleation; endosome transport; transport; retrograde transport, endosome to Golgi | Xq28;Yq12 |
| WASH7P | - | 1p36.33 |
| WASL | small molecule metabolic process; nitric oxide metabolic process; regulation of nitric-oxide synthase activity; regulation of transcription, DNA-dependent; protein complex assembly; cellular component movement; axon guidance; actin polymerization or depolymerization; response to bacterium | 7q31.3 |
| WBP1 | - | 2p12 |
| WBP11 | rRNA processing; mRNA processing; regulation of catalytic activity; RNA splicing | 12p12.3 |
| WBP11P1 | - | 18q12.1 |
| WBP1L | - | 10q24.32 |
| WBP1LP2 | - | - |
| WBP2 | - | 17q25 |
| WBP2NL | meiosis; male pronucleus assembly; egg activation | 22q13.2 |
| WBP4 | RNA splicing; nuclear mRNA cis splicing, via spliceosome; mRNA processing | 13q14.11 |
| WBP5 | - | Xq22.2 |
| WBSCR16 | - | 7q11.23 |
| WBSCR17 | - | 7q11.23 |
| WBSCR22 | metabolic process; methylation | - |
| WBSCR27 | - | 7q11.23 |
| WBSCR28 | - | 7q11.23 |
| WDFY1 | - | 2q36.1 |
| WDFY2 | - | 13q14.3 |
| WDFY3 | metabolic process | 4q21.23 |
| WDFY3-AS2 | - | 4q21.3 |
| WDFY4 | - | 10q11.23 |
| WDHD1 | - | 14q22.2 |
| WDPCP | regulation of embryonic cell shape; cell projection organization; septin cytoskeleton organization; regulation of protein localization; cilium morphogenesis | 2p15 |
| WDR1 | platelet degranulation; blood coagulation; sensory perception of sound; platelet activation | 4p16.1 |
| WDR11 | - | 10q26 |
| WDR11-AS1 | - | 10q26.13 |
| WDR12 | maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); cell proliferation; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); Notch signaling pathway; ribosomal large subunit biogenesis; rRNA processing | 2q33.2 |
| WDR13 | - | Xp11.23 |
| WDR17 | - | 4q34 |
| WDR18 | multicellular organismal development | 19p13.3 |
| WDR19 | cell projection organization | 4p14 |
| WDR20 | - | 14q32.31 |
| WDR24 | - | 16p13.3 |
| WDR25 | - | 14q32.2 |
| WDR26 | - | 1q42.13 |
| WDR27 | - | 6q27 |
| WDR3 | - | 1p12 |
| WDR31 | - | 9q32 |
| WDR33 | spermatogenesis; mRNA processing; postreplication repair | 2q14.3 |
| WDR34 | - | 9q34.11 |
| WDR35 | cilium assembly; cell projection organization | 2p24.1 |
| WDR36 | response to stimulus; visual perception; rRNA processing | 5q22.1 |
| WDR37 | - | 10p15.3 |
| WDR38 | - | 9q33.3 |
| WDR4 | tRNA modification | 21q22.3 |
| WDR41 | - | 5q13.3 |
| WDR43 | - | 2p23.2 |
| WDR44 | regulation of cell migration | Xq24 |
| WDR45 | response to starvation; autophagy | Xp11.23 |
| WDR45B | - | 17q25.3 |
| WDR45P | - | 4q31.3 |
| WDR46 | - | 6p21.3 |
| WDR47 | - | 1p13.3 |
| WDR48 | protein deubiquitination; interspecies interaction between organisms | 3p21.33 |
| WDR49 | - | 3q26.1 |
| WDR5 | histone H3-K4 methylation; skeletal system development; regulation of transcription, DNA-dependent; histone H4-K16 acetylation; histone H4-K8 acetylation; histone H4-K5 acetylation; histone H3 acetylation; chromatin modification | 9q34 |
| WDR53 | - | 3q29 |
| WDR54 | - | 2p13.1 |
| WDR55 | rRNA processing | 5q31.3 |
| WDR59 | - | 16q23.1 |
| WDR5B | - | 3q21.1 |
| WDR6 | negative regulation of cell proliferation; cell cycle; cell cycle arrest | 3p21.31 |
| WDR60 | - | 7q36.3 |
| WDR61 | - | 15q25.1 |
| WDR62 | cerebral cortex development; neurogenesis | 19q13.12 |
| WDR63 | - | 1p22.3 |
| WDR64 | - | 1q43 |
| WDR66 | - | 12q24.31 |
| WDR7 | - | 18q21.31 |
| WDR70 | - | 5p13.2 |
| WDR72 | - | 15q21.3 |
| WDR73 | - | 15q25.2 |
| WDR74 | - | 11q12.3 |
| WDR75 | - | 2q32.2 |
| WDR76 | - | 15q15.3 |
| WDR77 | negative regulation of epithelial cell proliferation involved in prostate gland development; secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development; ncRNA metabolic process; RNA metabolic process; gene expression; negative regulation of cell proliferation; positive regulation of cell proliferation; regulation of transcription from RNA polymerase II promoter; spliceosomal snRNP assembly | 1p13.2 |
| WDR78 | - | 1p31.3 |
| WDR81 | negative regulation of phosphatase activity | 17p13.3 |
| WDR82 | histone H3-K4 methylation | 3p21.2 |
| WDR82P1 | - | 3q11.2 |
| WDR83 | RNA splicing, via transesterification reactions; nuclear mRNA splicing, via spliceosome | 19p13.2 |
| WDR83OS | - | 19p13.2 |
| WDR86 | - | 7q36.1 |
| WDR86-AS1 | - | 7q36.1 |
| WDR87 | - | 19q13.13 |
| WDR88 | - | 19q13.11 |
| WDR89 | - | 14q23.2 |
| WDR90 | - | 16p13.3 |
| WDR91 | - | 7q33 |
| WDR92 | histone lysine methylation; apoptotic process | 2p14 |
| WDR93 | electron transport chain | 15q26.1 |
| WDR97 | - | 8q24.3 |
| WDSUB1 | - | 2q24.2 |
| WDTC1 | - | 1p36.11 |
| WDYHV1 | protein modification process | 8q24.13 |
| WEE1 | establishment of cell polarity; regulation of cell cycle; cell division; neuron projection morphogenesis; peptidyl-tyrosine phosphorylation; blood coagulation; mitosis; mitotic cell cycle; microtubule cytoskeleton organization; G2/M transition of mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint | 11p15.3-p15.1 |
| WEE2-AS1 | - | 7q34 |
| WFDC1 | negative regulation of cell growth; response to estradiol stimulus; response to drug; negative regulation of epithelial cell proliferation | 16q24.3 |
| WFDC10A | - | 20q13.12 |
| WFDC10B | - | 20q13.12 |
| WFDC11 | - | 20q13.12 |
| WFDC2 | negative regulation of endopeptidase activity; spermatogenesis; proteolysis | 20q13.12 |
| WFDC21P | - | 17q23.1 |
| WFDC3 | - | 20q13.12 |
| WFDC5 | - | 20q13.12 |
| WFDC8 | - | 20q13.12 |
| WFIKKN1 | - | 16p13.3 |
| WFIKKN2 | transforming growth factor beta receptor signaling pathway | 17q21.33 |
| WFS1 | negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of neuron apoptosis; positive regulation of proteolysis; positive regulation of growth; protein stabilization; neurological system process; positive regulation of protein metabolic process; positive regulation of calcium ion transport; calcium ion homeostasis; polyubiquitinated misfolded protein transport; ER-associated protein catabolic process; negative regulation of apoptotic process; kidney development; renal water homeostasis; ER overload response; activation of signaling protein activity involved in unfolded protein response; visual perception; sensory perception of sound; protein maturation by protein folding; positive regulation of protein ubiquitination; endoplasmic reticulum unfolded protein response; negative regulation of programmed cell death; regulation of apoptotic process; glucose homeostasis; response to endoplasmic reticulum stress; endoplasmic reticulum calcium ion homeostasis | 4p16.1 |
| WHAMM | - | 15q25.2 |
| WHAMMP1 | - | 15q13.3 |
| WHAMMP2 | - | 15q13.1 |
| WHAMMP3 | - | 15q11.2 |
| WHSC1 | regulation of transcription, DNA-dependent; anatomical structure morphogenesis; chromatin modification | 4p16.3 |
| WHSC1L1 | histone lysine methylation; cell differentiation; histone methylation; chromatin modification; cell growth; regulation of transcription, DNA-dependent | 8p11.2 |
| WI2-2373I1.2 | - | 7p22.3 |
| WIF1 | Wnt receptor signaling pathway; positive regulation of fat cell differentiation; multicellular organismal development; signal transduction | 12q14.3 |
| WIPF1 | actin polymerization or depolymerization; positive regulation of protein export from nucleus; actin filament-based movement; actin cytoskeleton organization; protein complex assembly | 2q31.1 |
| WIPF2 | - | 17q21.2 |
| WIPF3 | cell differentiation; spermatogenesis; multicellular organismal development | 7p14.3 |
| WIPI1 | endoplasmic reticulum unfolded protein response; autophagy; activation of signaling protein activity involved in unfolded protein response; macroautophagy; vesicle targeting, trans-Golgi to endosome | 17q24.2 |
| WIPI2 | autophagic vacuole assembly; autophagic vacuole fusion; autophagy | 7p22.1 |
| WISP1 | Wnt receptor signaling pathway; signal transduction; cell adhesion; regulation of cell growth; cell-cell signaling | 8q24.22 |
| WISP2 | negative regulation of cell proliferation; cell-cell signaling; signal transduction; cell adhesion; regulation of cell growth | 20q13.12 |
| WISP3 | signal transduction; regulation of cell growth; cell-cell signaling | 6q21 |
| WIZ | - | 19p13.1 |
| WLS | positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of canonical Wnt receptor signaling pathway; Wnt receptor signaling pathway; multicellular organismal development | 1p31.3 |
| WNK1 | protein phosphorylation; ion transport; intracellular protein kinase cascade; regulation of cellular process; negative regulation of phosphatase activity; neuron development | 12p13.3 |
| WNK2 | protein phosphorylation; protein autophosphorylation; negative regulation of ERK1 and ERK2 cascade; regulation of ion homeostasis; positive regulation of sodium ion transmembrane transporter activity; negative regulation of cell proliferation; intracellular protein kinase cascade | 9q22.3 |
| WNK3 | positive regulation of establishment of protein localization in plasma membrane; positive regulation of rubidium ion transmembrane transporter activity; protein phosphorylation; anti-apoptosis; intracellular protein kinase cascade; positive regulation of sodium ion transport; positive regulation of peptidyl-threonine phosphorylation; positive regulation of ion transmembrane transporter activity; rubidium ion transport; protein autophosphorylation; positive regulation of rubidium ion transport; positive regulation of sodium ion transmembrane transporter activity; positive regulation of calcium ion transport; sodium ion export; regulation of ion homeostasis | Xp11.22 |
| WNK4 | intracellular protein kinase cascade; protein localization; regulation of cellular process; chloride transport; ion transport; protein phosphorylation | 17q21-q22 |
| WNT1 | T cell differentiation in thymus; inner ear morphogenesis; negative regulation of cell-cell adhesion; negative regulation of transforming growth factor beta receptor signaling pathway; ubiquitin-dependent SMAD protein catabolic process; midbrain development; midbrain-hindbrain boundary development; organ regeneration; metencephalon development; midbrain-hindbrain boundary maturation during brain development; forebrain anterior/posterior pattern specification; fourth ventricle development; cerebellum formation; response to wounding; embryonic axis specification; branching involved in ureteric bud morphogenesis; positive regulation of protein phosphorylation; signal transduction; Wnt receptor signaling pathway, calcium modulating pathway; cell-cell signaling; multicellular organismal development; myoblast fusion; positive regulation of cell proliferation; cerebellum morphogenesis; axis specification; embryonic pattern specification; positive regulation of lamellipodium assembly; negative regulation of cell-subs | 12q13 |
| WNT10A | axis specification; anterior/posterior pattern specification; positive regulation of gene expression; neural crest cell differentiation; hair follicle morphogenesis; odontogenesis; regulation of odontogenesis of dentin-containing tooth; tongue development; skin development; epidermis morphogenesis; sebaceous gland development; cellular response to transforming growth factor beta stimulus; hair follicle development; multicellular organismal development; female gonad development; canonical Wnt receptor signaling pathway | 2q35 |
| WNT10B | positive regulation of osteoblast differentiation; positive regulation of RNA polymerase II transcriptional preinitiation complex assembly; regulation of skeletal muscle tissue development; skeletal muscle fiber development; negative regulation of epithelial cell proliferation; protein stabilization; sensory perception of taste; positive regulation of sequence-specific DNA binding transcription factor activity; regulation of protein metabolic process; positive regulation of anagen; canonical Wnt receptor signaling pathway; bone trabecula formation; fungiform papilla development; cellular response to retinoic acid; cellular response to cAMP; cellular response to parathyroid hormone stimulus; cellular response to organic cyclic compound; hemopoietic stem cell proliferation; cellular response to hydrostatic pressure; negative regulation of transcription from RNA polymerase II promoter; positive regulation of canonical Wnt receptor signaling pathway; positive regulation of G2/M transition of mitotic cell cycle; c | 12q13 |
| WNT11 | neuron differentiation; negative regulation of apoptotic process; positive regulation of apoptotic process; non-canonical Wnt receptor signaling pathway; protein localization at cell surface; positive regulation of transforming growth factor beta2 production; positive regulation of Ras GTPase activity; negative regulation of cell migration; positive regulation of cell migration; adrenal gland development; negative regulation of cell growth; bone mineralization; negative regulation of transcription, DNA-dependent; Wnt receptor signaling pathway; positive regulation of gene expression; anterior/posterior pattern specification; axis specification; endoderm development; multicellular organismal development; protein phosphorylation; outflow tract morphogenesis; positive regulation of protein phosphorylation; osteoblast differentiation; palate development; cloacal septation; ventricular septum morphogenesis; lung-associated mesenchyme development; negative regulation of cell death; ureteric bud morphogenesis; negat | 11q13.5 |
| WNT16 | replicative senescence; positive regulation of gene expression; negative regulation of cell death; cardiac epithelial to mesenchymal transition; canonical Wnt receptor signaling pathway; positive regulation of JNK cascade; keratinocyte proliferation; keratinocyte differentiation; positive regulation of phosphatidylinositol 3-kinase cascade; anterior/posterior pattern specification; axis specification; oxidative stress-induced premature senescence; axonogenesis; multicellular organismal development; optic cup formation involved in camera-type eye development | 7q31 |
| WNT2 | positive regulation of canonical Wnt receptor signaling pathway; positive regulation of cardiac muscle cell proliferation; canonical Wnt receptor signaling pathway; cardiac epithelial to mesenchymal transition; lung induction; positive regulation of epithelial cell proliferation involved in lung morphogenesis; labyrinthine layer blood vessel development; iris morphogenesis; mammary gland epithelium development; cellular response to retinoic acid; cellular response to transforming growth factor beta stimulus; atrial cardiac muscle tissue morphogenesis; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of fibroblast proliferation; positive regulation of transcription from RNA polymerase II promoter; lung development; neuron differentiation; Wnt receptor signaling pathway; dorsal/ventral axis specification; positive regulation of cell proliferation; multicellular organismal development; cell-cell signaling; signal transduction; lens development in camera-type | 7q31.2 |
| WNT2B | multicellular organismal development; chondrocyte differentiation; Wnt receptor signaling pathway, calcium modulating pathway; male gonad development; dorsal/ventral axis specification; Wnt receptor signaling pathway; forebrain regionalization; neuron differentiation; lung induction; mesenchymal-epithelial cell signaling; iris morphogenesis; cornea development in camera-type eye; hemopoietic stem cell proliferation; positive regulation of branching involved in ureteric bud morphogenesis; positive regulation of canonical Wnt receptor signaling pathway; lens development in camera-type eye | 1p13 |
| WNT3 | Wnt receptor signaling pathway, calcium modulating pathway; inner ear morphogenesis; embryonic hindlimb morphogenesis; embryonic forelimb morphogenesis; midbrain-hindbrain boundary development; neuron differentiation; positive regulation of gene expression; dorsal/ventral axis specification; anterior/posterior axis specification; embryonic pattern specification; positive regulation of cell proliferation; axon guidance; multicellular organismal development; cell morphogenesis; mesoderm formation; signal transduction; canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation; hemopoietic stem cell proliferation; cellular response to retinoic acid; mammary gland epithelium development; head morphogenesis; limb bud formation; limb development; Spemann organizer formation at the anterior end of the primitive streak; negative regulation of axon extension involved in axon guidance; positive regulation of collateral sprouting in absence of injury; negative regulation of fat cell diffe | 17q21 |
| WNT4 | tertiary branching involved in mammary gland duct morphogenesis; mesenchymal to epithelial transition; negative regulation of testicular blood vessel morphogenesis; axis specification; positive regulation of canonical Wnt receptor signaling pathway; negative regulation of canonical Wnt receptor signaling pathway; establishment of protein localization in plasma membrane; metanephric nephron morphogenesis; mesonephric tubule development; metanephric mesenchymal cell differentiation; renal vesicle induction; renal vesicle formation; female gonad development; mammary gland epithelium development; negative regulation of male gonad development; positive regulation of cortisol biosynthetic process; negative regulation of testosterone biosynthetic process; cellular response to transforming growth factor beta stimulus; cellular response to hydrostatic pressure; cellular response to estradiol stimulus; positive regulation of meiosis; paramesonephric duct development; positive regulation of dermatome development; branch | 1p36.23-p35.1 |
| WNT5A | prostate gland development; positive regulation of cGMP metabolic process; negative regulation of BMP signaling pathway; keratinocyte differentiation; neuron differentiation; neural tube development; olfactory bulb interneuron development; Wnt receptor signaling pathway; response to organic cyclic compound; positive regulation of neuron projection development; positive regulation of T cell chemotaxis; positive regulation of peptidyl-threonine phosphorylation; negative regulation of apoptotic process; positive regulation of endothelial cell migration; activation of protein kinase B activity; response to estradiol stimulus; positive regulation of interferon-gamma production; positive regulation of interleukin-6 production; positive regulation of peptidyl-serine phosphorylation; response to testosterone stimulus; cellular protein localization; tail morphogenesis; negative regulation of fibroblast growth factor receptor signaling pathway; wound healing; embryonic digit morphogenesis; positive regulation of macrop | 3p21-p14 |
| WNT5A-AS1 | - | - |
| WNT5B | respiratory system development; angiogenesis; chondrocyte differentiation; Wnt receptor signaling pathway, calcium modulating pathway; multicellular organismal development; dorsal/ventral axis specification; anterior/posterior pattern specification; negative regulation of canonical Wnt receptor signaling pathway; cellular response to retinoic acid; lens fiber cell development; convergent extension involved in axis elongation; convergent extension involved in gastrulation; positive regulation of fat cell differentiation; fat cell differentiation; Wnt receptor signaling pathway; neuron differentiation; cell migration involved in gastrulation; endocrine pancreas development; positive regulation of cell migration | 12p13.3 |
| WNT6 | positive regulation of tooth mineralization; branching involved in ureteric bud morphogenesis; nephron tubule development; nephron tubule formation; cellular response to retinoic acid; cornea development in camera-type eye; epithelial-mesenchymal cell signaling; canonical Wnt receptor signaling pathway; branching morphogenesis of a tube; positive regulation of transcription, DNA-dependent; neuron differentiation; positive regulation of gene expression; anterior/posterior pattern specification; axis specification; multicellular organismal development; cell-cell signaling; odontogenesis of dentin-containing tooth | 2q35 |
| WNT7A | cell proliferation in forebrain; cerebellar granule cell differentiation; satellite cell maintenance involved in skeletal muscle regeneration; satellite cell activation; dorsal/ventral pattern formation; anterior/posterior pattern specification; asymmetric protein localization; sex differentiation; multicellular organismal development; neurotransmitter secretion; activation of JUN kinase activity; signal transduction; skeletal system development; embryonic axis specification; cellular response to transforming growth factor beta stimulus; establishment of cell polarity; positive regulation of canonical Wnt receptor signaling pathway; lens fiber cell development; uterus morphogenesis; limb development; canonical Wnt receptor signaling pathway; oviduct development; uterus development; positive regulation of epithelial cell proliferation involved in wound healing; palate development; positive regulation of synapse assembly; cartilage development; synapse organization; negative regulation of neurogenesis; stem cel | 3p25 |
| WNT7B | induction of apoptosis; cellular response to retinoic acid; lobar bronchus development; lung-associated mesenchyme development; trachea cartilage morphogenesis; developmental growth involved in morphogenesis; embryonic placenta morphogenesis; chorio-allantoic fusion; mammary gland epithelium development; lens fiber cell development; odontogenesis of dentin-containing tooth; renal inner medulla development; renal outer medulla development; outer medullary collecting duct development; inner medullary collecting duct development; stem cell proliferation; metanephric collecting duct development; metanephric epithelium development; metanephric loop of Henle development; negative regulation of neurogenesis; homeostatic process; cellular metabolic process; positive regulation of osteoblast differentiation; negative regulation of smoothened signaling pathway; positive regulation of JNK cascade; fibroblast proliferation; embryonic organ development; stem cell development; in utero embryonic development; synapse organi | 22q13 |
| WNT8A | dorsal/ventral pattern formation; neural plate pattern specification; canonical Wnt receptor signaling pathway; positive regulation of fibroblast growth factor receptor signaling pathway; polarity specification of proximal/distal axis; polarity specification of anterior/posterior axis; endoderm development; ectoderm development; multicellular organismal development; somitogenesis; mesodermal cell fate commitment; eye development; neural crest cell fate commitment; spinal cord anterior/posterior patterning; negative regulation of Wnt receptor signaling pathway; hindbrain development; notochord development; response to retinoic acid; tail morphogenesis; brain segmentation; cell migration involved in gastrulation; regulation of transcription involved in anterior/posterior axis specification; canonical Wnt receptor signaling pathway involved in neural crest cell differentiation; palate development | 5q31 |
| WNT8B | canonical Wnt receptor signaling pathway; negative regulation of gene expression; cellular response to retinoic acid; determination of dorsal identity; otic placode formation; response to retinoic acid; response to estradiol stimulus; neuron differentiation; negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway; Wnt receptor signaling pathway involved in forebrain neuron fate commitment; hypothalamus development; positive regulation of gene expression; anterior/posterior pattern specification; axis specification; endoderm development; nervous system development; gastrulation; multicellular organismal development; signal transduction; eye development | 10q24 |
| WNT9A | embryonic skeletal joint development; embryonic arm morphogenesis; mitotic cell cycle G1/S transition checkpoint; negative regulation of chondrocyte differentiation; positive regulation of smoothened signaling pathway; cellular response to retinoic acid; cornea development in camera-type eye; iris morphogenesis; canonical Wnt receptor signaling pathway; embryonic skeletal system morphogenesis; neuron differentiation; anterior/posterior pattern specification; axis specification; negative regulation of cell proliferation; endoderm development; multicellular organismal development; cell-cell signaling | 1q42 |
| WNT9B | mesonephric duct formation; multicellular organismal development; metanephric tubule development; regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; cell-cell signaling; Wnt receptor signaling pathway, planar cell polarity pathway; mesonephric tubule development; nephron tubule morphogenesis; establishment of planar polarity involved in nephron morphogenesis; branching involved in ureteric bud morphogenesis; in utero embryonic development; regulation of protein phosphorylation; embryonic cranial skeleton morphogenesis; collecting duct development; kidney rudiment formation; cellular response to retinoic acid; cornea development in camera-type eye; uterus morphogenesis; canonical Wnt receptor signaling pathway; palate development; embryonic skeletal system morphogenesis; endoderm development; positive regulation of catalytic activity; regulation of tube size; response to retinoic acid; male genitalia development; neuron differentiation; Wnt receptor signaling pathway; ant | 17q21 |
| WRAP53 | positive regulation of telomerase activity; telomere formation via telomerase | 17p13.1 |
| WRAP73 | - | 1p36.3 |
| WRB | - | 21q22.3 |
| WRN | DNA replication; aging; positive regulation of hydrolase activity; regulation of apoptotic process; regulation of growth rate; DNA duplex unwinding; nucleolus to nucleoplasm transport; replication fork processing; multicellular organismal aging; response to UV-C; cellular response to starvation; cell aging; telomere maintenance; response to oxidative stress; response to DNA damage stimulus; DNA recombination; base-excision repair; cellular metabolic process; DNA metabolic process; ATP catabolic process; nucleobase-containing compound metabolic process; replicative cell aging; DNA synthesis involved in DNA repair | 8p12 |
| WRNIP1 | DNA synthesis involved in DNA repair; ATP catabolic process; DNA replication; regulation of DNA-dependent DNA replication initiation | 6p25.2 |
| WSB1 | intracellular signal transduction | 17q11.1 |
| WSB2 | intracellular signal transduction | 12q24.23 |
| WSCD1 | - | 17p13.2 |
| WSCD2 | - | 12q23.3 |
| WT1 | negative regulation of apoptotic process; gonad development; adrenal cortex formation; glomerular basement membrane development; glomerulus development; epithelial cell differentiation; male genitalia development; adrenal gland development; negative regulation of cell growth; negative regulation of translation; tissue development; male gonad development; negative regulation of transcription from RNA polymerase II promoter; vasculogenesis; ureteric bud development; camera-type eye development; RNA splicing; branching involved in ureteric bud morphogenesis; kidney development; mesonephros development; regulation of organ formation; regulation of transcription, DNA-dependent; negative regulation of cell proliferation; sex determination; heart development; thorax and anterior abdomen determination; germ cell development; induction of apoptosis; regulation of transcription from RNA polymerase II promoter; negative regulation of metanephric glomerular mesangial cell proliferation; positive regulation of metanephric | 11p13 |
| WT1-AS | - | 11p13 |
| WTAP | cell cycle; RNA splicing; mRNA processing | 6q25-q27 |
| WTAPP1 | - | 11q22.2 |
| WTH3DI | - | 2q21.1 |
| WTIP | gene silencing by miRNA; cytoskeleton organization; regulation of transcription, DNA-dependent; regulation of cell morphogenesis | 19q13.11 |
| WWC1 | regulation of transcription, DNA-dependent; cell migration; regulation of hippo signaling cascade; positive regulation of MAPK cascade | 5q34 |
| WWC2 | - | 4q35.1 |
| WWC2-AS2 | - | 4q35.1 |
| WWC3 | - | Xp22.32 |
| WWC3-AS1 | - | - |
| WWOX | positive regulation of transcription from RNA polymerase II promoter; cellular response to transforming growth factor beta stimulus; oxidation-reduction process; skeletal system morphogenesis; positive regulation of apoptotic process; negative regulation of Wnt receptor signaling pathway; steroid metabolic process; induction of apoptosis; osteoblast differentiation | 16q23.3-q24.1 |
| WWP1 | negative regulation of transcription, DNA-dependent; entry of virus into host cell; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; interspecies interaction between organisms; protein ubiquitination; central nervous system development; signal transduction; protein modification process | 8q21 |
| WWP2 | negative regulation of transcription, DNA-dependent; interspecies interaction between organisms; negative regulation of sequence-specific DNA binding transcription factor activity; proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; negative regulation of transporter activity; entry of virus into host cell; protein ubiquitination; negative regulation of protein transport; negative regulation of gene expression; protein modification process; negative regulation of transcription from RNA polymerase II promoter; protein K63-linked ubiquitination | 16q22.1 |
| WWTR1 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of protein phosphorylation; regulation of transcription, DNA-dependent; osteoblast differentiation; glomerulus development; cilium morphogenesis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of fat cell differentiation; negative regulation of catenin import into nucleus; regulation of SMAD protein import into nucleus; negative regulation of canonical Wnt receptor signaling pathway; hippo signaling cascade; stem cell division; positive regulation of epithelial to mesenchymal transition; positive regulation of cell proliferation; negative regulation of protein kinase activity | 3q23-q24 |
| WWTR1-AS1 | - | 3q25.1 |
| XAB2 | transcription-coupled nucleotide-excision repair; nuclear mRNA splicing, via spliceosome; blastocyst development; DNA repair; nucleotide-excision repair; transcription, DNA-dependent; RNA splicing | 19p13.2 |
| XAF1 | type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway; apoptotic process | 17p13.1 |
| XAGE-4 | - | Xp11.21 |
| XAGE1D | - | Xp11.22 |
| XAGE2 | - | Xp11.22 |
| XAGE2B | - | Xp11.22 |
| XAGE3 | - | Xp11.22 |
| XAGE5 | - | Xp11.22 |
| XBP1 | response to electrical stimulus; endoplasmic reticulum unfolded protein response; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; immune response; activation of signaling protein activity involved in unfolded protein response; serotonin secretion, neurotransmission; response to drug; exocrine pancreas development; epithelial cell maturation involved in salivary gland development; positive regulation of endoplasmic reticulum unfolded protein response | 22q12.1|22q12 |
| XBP1P1 | - | 5q22.2 |
| XCL1 | positive regulation of B cell chemotaxis; positive regulation of granzyme A production; negative regulation of T-helper 1 cell activation; signal transduction; immune response; chemotaxis; negative regulation of T-helper 1 type immune response; positive regulation of T cell cytokine production; negative regulation of T cell cytokine production; positive regulation of leukocyte chemotaxis; immunoglobulin production in mucosal tissue; positive regulation of T cell mediated cytotoxicity; negative regulation of transcription, DNA-dependent; neutrophil chemotaxis; negative regulation of interferon-gamma production; negative regulation of interleukin-2 production; positive regulation of interleukin-10 production; CD4-positive, alpha-beta T cell proliferation; CD8-positive, alpha-beta T cell proliferation; response to virus; cell-cell signaling; T-helper 1 cell cytokine production; T-helper 2 cell cytokine production; positive regulation of activated T cell proliferation; negative regulation of sequence-specific DNA | 1q23 |
| XCL2 | chemotaxis; immune response; signal transduction; blood circulation | 1q24.2 |
| XDH | purine base metabolic process; purine nucleotide catabolic process; lactation; xanthine catabolic process; regulation of epithelial cell differentiation; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 2p23.1 |
| XG | - | Xp22.33 |
| XGY2 | - | Yp11.31 |
| XIAP | regulation of BMP signaling pathway; apoptotic process; anti-apoptosis; response to DNA damage stimulus; induction of apoptosis by intracellular signals; regulation of innate immune response; regulation of cell proliferation; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of canonical Wnt receptor signaling pathway; regulation of nucleotide-binding oligomerization domain containing signaling pathway; copper ion homeostasis; regulation of inflammatory response | Xq25 |
| XIRP1 | negative regulation of cell proliferation; sarcomere organization; cardiac muscle cell development; regulation of membrane potential; actin cytoskeleton organization | 3p22.2 |
| XIRP2 | actin cytoskeleton organization | 2q24.3 |
| XIRP2-AS1 | - | - |
| XIST | - | Xq13.2 |
| XK | transport; amino acid transport | Xp21.1 |
| XKR3 | - | 22q11.1 |
| XKR4 | - | 8q12.1 |
| XKR5 | - | 8p23.1 |
| XKR6 | - | 8p23.1 |
| XKR7 | - | 20q11.21 |
| XKR8 | - | 1p35.3 |
| XKR9 | - | 8q13.3 |
| XKRX | - | Xq22.1 |
| XKRY2 | - | Yq11.221 |
| XPA | response to oxidative stress; DNA repair; nucleotide-excision repair; nucleotide-excision repair, DNA damage removal; DNA damage response, signal transduction resulting in induction of apoptosis; response to UV; response to toxin | 9q22.3 |
| XPC | nucleotide-excision repair; cell cycle checkpoint; nucleotide-excision repair, DNA damage recognition; nucleotide-excision repair, DNA damage removal; response to drug; intra-S DNA damage checkpoint; response to UV-B; DNA repair | 3p25 |
| XPNPEP1 | bradykinin catabolic process; cellular process; proteolysis | 10q25.3 |
| XPNPEP2 | cellular process; proteolysis | Xq25 |
| XPNPEP3 | proteolysis; cellular process | 22q13.2 |
| XPO1 | mRNA transport; viral genome transport in host cell; interspecies interaction between organisms; viral infectious cycle; mRNA metabolic process; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; RNA metabolic process; viral reproduction; intracellular protein transport; gene expression | 2p15 |
| XPO4 | protein transport; positive regulation of protein export from nucleus | 13q11 |
| XPO5 | gene silencing by RNA; intracellular protein transport; protein export from nucleus | 6p21.1 |
| XPO6 | intracellular protein transport; protein export from nucleus | 16p11.2 |
| XPO7 | mRNA transport; intracellular protein transport; protein export from nucleus | 8p21 |
| XPOT | transport; intracellular protein transport; tRNA export from nucleus | 12q14.2 |
| XPOTP1 | - | 20q11.22 |
| XPR1 | G-protein coupled receptor signaling pathway; response to virus | 1q25.1 |
| XRCC1 | response to drug; single strand break repair; response to hypoxia; DNA repair; base-excision repair; response to organic substance | 19q13.2 |
| XRCC2 | double-strand break repair via homologous recombination; positive regulation of neurogenesis; response to gamma radiation; DNA recombination; DNA repair; in utero embryonic development; negative regulation of neuron apoptosis; meiosis; response to X-ray | 7q36.1 |
| XRCC3 | response to DNA damage stimulus; DNA recombination; DNA repair | 14q32.3 |
| XRCC4 | T cell differentiation in thymus; cellular response to lithium ion; positive regulation of ligase activity; DNA ligation involved in DNA repair; pro-B cell differentiation; DNA repair; double-strand break repair; double-strand break repair via nonhomologous end joining; central nervous system development; response to X-ray; response to gamma radiation; viral reproduction; provirus integration; initiation of viral infection; immunoglobulin V(D)J recombination; negative regulation of neuron apoptosis; positive regulation of neurogenesis; positive regulation of fibroblast proliferation; isotype switching; in utero embryonic development | 5q14.2 |
| XRCC5 | double-strand break repair; hemopoietic stem cell differentiation; telomere maintenance; DNA repair; double-strand break repair via nonhomologous end joining; DNA recombination; cell proliferation; viral reproduction; provirus integration; initiation of viral infection; negative regulation of apoptotic process; negative regulation of transcription, DNA-dependent; positive regulation of neurogenesis | 2q35 |
| XRCC6 | double-strand break repair; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; V(D)J recombination; initiation of viral infection; provirus integration; viral reproduction; response to ionizing radiation; double-strand break repair via nonhomologous end joining; DNA ligation; positive regulation of neurogenesis; telomere maintenance; DNA repair | 22q13.2 |
| XRCC6BP1 | double-strand break repair via nonhomologous end joining; proteolysis | 12q14.1 |
| XRCC6P1 | - | 10q23.33 |
| XRCC6P2 | - | Xq28 |
| XRCC6P3 | - | 1q41 |
| XRCC6P4 | - | - |
| XRCC6P5 | - | Xq22.1 |
| XRN1 | RNA metabolic process; nucleobase-containing compound metabolic process; gene expression; nuclear mRNA surveillance; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; rRNA catabolic process; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process; histone mRNA catabolic process | 3q23 |
| XRN2 | DNA catabolic process, exonucleolytic; nucleobase-containing compound metabolic process; transcription termination, DNA-dependent; regulation of transcription, DNA-dependent; RNA processing; mRNA processing; nucleic acid phosphodiester bond hydrolysis; RNA metabolic process; cell growth; spermatogenesis; RNA catabolic process | 20p11.2-p11.1 |
| XRRA1 | response to X-ray | 11q13.4 |
| XXYLT1 | - | 3q29 |
| XXYLT1-AS2 | - | 3q29 |
| XYLB | xylulose catabolic process; generation of precursor metabolites and energy; carbohydrate metabolic process; D-xylose metabolic process | 3p22-p21.3 |
| XYLT1 | negative regulation of axon regeneration; glycosaminoglycan biosynthetic process; proteoglycan biosynthetic process; cellular response to heat; response to interleukin-1 | 16p12.3 |
| XYLT2 | glycosaminoglycan biosynthetic process | 17q21.33 |
| YAE1D1 | - | 7p14.1 |
| YAF2 | positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent | 12q12 |
| YAP1 | response to DNA damage stimulus; cell proliferation; hippo signaling cascade; contact inhibition; regulation of transcription, DNA-dependent; cellular response to gamma radiation | 11q13 |
| YAP1P1 | - | 6q24.3 |
| YAP1P2 | - | - |
| YARS | tRNA aminoacylation for protein translation; gene expression; signal transduction; apoptotic process; tyrosyl-tRNA aminoacylation | 1p35.1 |
| YARS2 | mitochondrial tyrosyl-tRNA aminoacylation; tRNA aminoacylation; gene expression; tRNA aminoacylation for protein translation; translation | 12p11.21 |
| YBEY | - | 21q22.3 |
| YBX1 | regulation of transcription, DNA-dependent; in utero embryonic development; nuclear mRNA splicing, via spliceosome; negative regulation of transcription from RNA polymerase II promoter; CRD-mediated mRNA stabilization; positive regulation of cell division; negative regulation of striated muscle cell differentiation; negative regulation of transcription, DNA-dependent; gene expression; RNA splicing; transcription from RNA polymerase II promoter | 1p34 |
| YBX1P1 | - | 14q23.3 |
| YBX1P10 | - | 9p13.1 |
| YBX1P2 | - | 7q22.3 |
| YBX1P4 | - | 7q36.1 |
| YBX1P5 | - | 5q13.2 |
| YBX1P6 | - | 9q31.3 |
| YBX1P8 | - | Xp11.23 |
| YBX2 | negative regulation of binding; oocyte development; oogenesis; mRNA stabilization; negative regulation of translation; translational attenuation; spermatid development; spermatogenesis; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 17p13.1 |
| YBX3 | - | 12p13.1 |
| YBX3P1 | - | 16p11.2 |
| YDJC | carbohydrate metabolic process | 22q11.21 |
| YEATS2 | histone H3 acetylation; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 3q27.1 |
| YEATS4 | regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; histone H2A acetylation; histone H4 acetylation; regulation of growth; chromatin modification; mitosis | 12q13-q15 |
| YES1 | leukocyte migration; protein modification process; blood coagulation; glucose transport; T cell costimulation; regulation of vascular permeability | 18p11.31-p11.21 |
| YIF1A | endoplasmic reticulum unfolded protein response; activation of signaling protein activity involved in unfolded protein response; protein transport; vesicle-mediated transport | 11q13 |
| YIF1B | - | 19q13.2 |
| YIPF1 | - | 1p33-p32.1 |
| YIPF2 | - | 19p13.2 |
| YIPF3 | cell differentiation | 6p21.1 |
| YIPF4 | - | 2p22.3 |
| YIPF5 | vesicle-mediated transport; protein transport | 5q31.3 |
| YIPF6 | - | Xq12 |
| YIPF7 | - | 4p12 |
| YJEFN3 | - | 19p13.11 |
| YKT6 | retrograde transport, endosome to Golgi; protein transport; vesicle docking involved in exocytosis; vesicle targeting; ER to Golgi vesicle-mediated transport | 7p15.1 |
| YLPM1 | regulation of transcription, DNA-dependent | 14q24.3 |
| YME1L1 | proteolysis; protein catabolic process | 10p14 |
| YME1L1P1 | - | 22q11.1 |
| YOD1 | cellular amino acid metabolic process; response to unfolded protein; proteolysis; ER-associated protein catabolic process; endoplasmic reticulum unfolded protein response; protein K63-linked deubiquitination; protein K48-linked deubiquitination | 1q32.2 |
| YPEL1 | - | 22q11.2 |
| YPEL2 | - | 17q22 |
| YPEL3 | - | 16p11.2 |
| YPEL4 | - | 11q12.1 |
| YPEL5 | oxidation-reduction process | 2p23.1 |
| YRDC | negative regulation of transport | 1p34.3 |
| YRDCP2 | - | 9q22.33 |
| YTHDC1 | RNA splicing; nuclear mRNA splicing, via spliceosome | 4q13.2 |
| YTHDC2 | - | 5q22.2 |
| YTHDF1 | - | 20q13.33 |
| YTHDF2 | humoral immune response | 1p35 |
| YTHDF2P1 | - | 14q21.1 |
| YTHDF3 | - | 8q12.3 |
| YTHDF3-AS1 | - | 8q |
| YWHAB | activation of MAPKK activity; induction of apoptosis by intracellular signals; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; axon guidance; Ras protein signal transduction; small GTPase mediated signal transduction; epidermal growth factor receptor signaling pathway; apoptotic process; protein targeting; activation of pro-apoptotic gene products; MAPK cascade; gene expression; RNA metabolic process; mRNA metabolic process; negative regulation of protein dephosphorylation; positive regulation of catalytic activity; negative regulation of transcription, DNA-dependent; nerve growth factor receptor signaling pathway; cytoplasmic sequestering of protein | 20q13.1 |
| YWHAE | negative regulation of protein dephosphorylation; intracellular signal transduction; nerve growth factor receptor signaling pathway; interspecies interaction between organisms; induction of apoptosis by extracellular signals; apoptotic process; protein targeting; neuron migration; mitotic cell cycle; G2/M transition of mitotic cell cycle; cerebral cortex development; hippocampus development | 17p13.3 |
| YWHAEP1 | - | 7q11.21 |
| YWHAEP7 | - | 17q12 |
| YWHAG | protein targeting; regulation of signal transduction; negative regulation of protein kinase activity; G2/M transition of mitotic cell cycle; mitotic cell cycle; regulation of synaptic plasticity; regulation of neuron differentiation | 7q11.23 |
| YWHAH | regulation of neuron differentiation; glucocorticoid catabolic process; intracellular protein transport; positive regulation of transcription, DNA-dependent; glucocorticoid receptor signaling pathway; negative regulation of dendrite morphogenesis; regulation of synaptic plasticity | 22q12.3 |
| YWHAQ | protein targeting; small GTPase mediated signal transduction; negative regulation of transcription, DNA-dependent | 2p25.1 |
| YWHAQP2 | - | 22q13.2 |
| YWHAQP6 | - | 3q23 |
| YWHAQP8 | - | Xq22.1 |
| YWHAZ | mRNA metabolic process; response to drug; platelet activation; RNA metabolic process; gene expression; blood coagulation; signal transduction; anti-apoptosis; protein targeting to mitochondrion; histamine secretion by mast cell | 8q23.1 |
| YWHAZP2 | - | 2q14.3 |
| YWHAZP3 | - | 10p12.2 |
| YWHAZP4 | - | 6q23.1 |
| YWHAZP5 | - | 10q25.1 |
| YY1 | RNA localization; camera-type eye morphogenesis; negative regulation of transcription from RNA polymerase II promoter; double-strand break repair via homologous recombination; DNA repair; DNA recombination; regulation of transcription from RNA polymerase II promoter; response to DNA damage stimulus; anterior/posterior pattern specification; response to UV-C; cell differentiation; cellular response to UV; chromosome organization; spermatogenesis | 14q |
| YY1AP1 | regulation of transcription, DNA-dependent; regulation of cell cycle | 1q22 |
| YY2 | regulation of transcription, DNA-dependent | Xp22.2-p22.1 |
| ZADH2 | - | 18q22.3 |
| ZAK | - | 2q24.2 |
| ZAN | binding of sperm to zona pellucida; cell-cell adhesion | 7q22 |
| ZAP70 | T cell migration; immune response; intracellular protein kinase cascade; T cell differentiation; T cell activation; B cell activation; positive thymic T cell selection; positive regulation of T cell differentiation; T cell receptor signaling pathway; T cell aggregation; adaptive immune response; protein phosphorylation | 2q12 |
| ZAR1 | multicellular organismal development; sodium ion transport | 4p11 |
| ZBBX | - | 3q26.1 |
| ZBED1 | - | Xp22.33;Yp11 |
| ZBED1P1 | - | 4q25 |
| ZBED2 | - | 3q13.2 |
| ZBED3 | - | 5q13.3 |
| ZBED3-AS1 | - | 5q13.3 |
| ZBED4 | - | 22q13.33 |
| ZBED5 | - | 11p15.3 |
| ZBED5-AS1 | - | 11p15.3 |
| ZBED6 | negative regulation of transcription, DNA-dependent | 1q32.1 |
| ZBED6CL | - | 7q36.1 |
| ZBED8 | - | 5q33.3 |
| ZBED9 | viral reproduction; DNA integration | 6p22.1 |
| ZBP1 | innate immune response | 20q13.31 |
| ZBTB1 | regulation of transcription, DNA-dependent | 14q23.3 |
| ZBTB10 | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 8q13-q21.1 |
| ZBTB11 | regulation of transcription, DNA-dependent | 3q12.3 |
| ZBTB11-AS1 | - | 3q12.3 |
| ZBTB12 | regulation of transcription, DNA-dependent | 6p21.33 |
| ZBTB14 | - | 18pter-p11.21 |
| ZBTB16 | apoptotic process; positive regulation of fat cell differentiation; positive regulation of apoptotic process; forelimb morphogenesis; embryonic hindlimb morphogenesis; positive regulation of chondrocyte differentiation; myeloid cell differentiation; hemopoiesis; anterior/posterior pattern specification; negative regulation of myeloid cell differentiation; positive regulation of ossification; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; male germ-line stem cell division; cartilage development; embryonic pattern specification; positive regulation of cartilage development; mesonephros development; central nervous system development; negative regulation of cell proliferation | 11q23.1 |
| ZBTB17 | gastrulation with mouth forming second; positive regulation of transcription, DNA-dependent; negative regulation of cell cycle; endoplasmic reticulum unfolded protein response; ectoderm development; multicellular organismal development; activation of signaling protein activity involved in unfolded protein response; regulation of transcription, DNA-dependent | 1p36.13 |
| ZBTB18 | - | 1q44-qter |
| ZBTB2 | regulation of transcription, DNA-dependent | 6q25.1 |
| ZBTB20 | regulation of transcription, DNA-dependent | 3q13.2 |
| ZBTB20-AS1 | - | 3q13.31 |
| ZBTB21 | - | 21q22.3 |
| ZBTB22 | regulation of transcription, DNA-dependent | 6p21.3 |
| ZBTB24 | regulation of transcription, DNA-dependent | 6q21 |
| ZBTB25 | gene expression; regulation of transcription, DNA-dependent | 14q23-q24 |
| ZBTB26 | regulation of transcription, DNA-dependent | 9q33.2 |
| ZBTB3 | regulation of transcription, DNA-dependent | 11q12.3 |
| ZBTB32 | regulation of cytokine production; regulation of transcription, DNA-dependent; DNA repair; transcription from RNA polymerase II promoter; hemopoiesis; T cell proliferation; negative regulation of transcription from RNA polymerase II promoter | 19q13.1 |
| ZBTB33 | regulation of transcription, DNA-dependent; Wnt receptor signaling pathway; intracellular signal transduction | Xq23 |
| ZBTB34 | regulation of transcription, DNA-dependent | 9q33.3 |
| ZBTB37 | regulation of transcription, DNA-dependent | 1q25.1 |
| ZBTB38 | positive regulation of transcription from RNA polymerase II promoter | 3q23 |
| ZBTB39 | regulation of transcription, DNA-dependent | 12q13.3 |
| ZBTB4 | regulation of transcription, DNA-dependent | 17p13.1 |
| ZBTB40 | response to DNA damage stimulus; regulation of transcription, DNA-dependent; bone mineralization | 1p36 |
| ZBTB40-IT1 | - | - |
| ZBTB41 | regulation of transcription, DNA-dependent | 1q31.3 |
| ZBTB42 | regulation of transcription, DNA-dependent | 14q32.33 |
| ZBTB43 | regulation of transcription, DNA-dependent | 9q33.3 |
| ZBTB44 | regulation of transcription, DNA-dependent | 11q24.3 |
| ZBTB45 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZBTB46 | regulation of transcription, DNA-dependent | 20q13.33 |
| ZBTB46-AS1 | - | - |
| ZBTB47 | regulation of transcription, DNA-dependent | 3p22.1 |
| ZBTB48 | regulation of transcription, DNA-dependent | 1p36.3 |
| ZBTB49 | regulation of transcription, DNA-dependent | 4p16.3 |
| ZBTB5 | regulation of transcription, DNA-dependent | 9p13.2 |
| ZBTB6 | regulation of transcription, DNA-dependent | 9q33.2 |
| ZBTB7A | cell differentiation; regulation of osteoclast differentiation; negative regulation of transcription, DNA-dependent; multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter | 19p13.3 |
| ZBTB7B | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; ectoderm development; cell differentiation | 1q21.3 |
| ZBTB7C | - | 18q21.1 |
| ZBTB8A | regulation of transcription, DNA-dependent | 1p35.1 |
| ZBTB8B | regulation of transcription, DNA-dependent | 1p35.1 |
| ZBTB8OS | - | 1p35.1 |
| ZBTB8OSP1 | - | 4q31.3 |
| ZBTB9 | regulation of transcription, DNA-dependent | 6p21.32 |
| ZC2HC1A | - | 8q21.12 |
| ZC2HC1B | - | 6q24.2 |
| ZC2HC1C | - | 14q24.3 |
| ZC3H10 | - | 12q13.2 |
| ZC3H11A | - | 1q32.1 |
| ZC3H11B | - | 1q41 |
| ZC3H12A | multicellular organismal development; cell differentiation; angiogenesis; apoptotic process | 1p34.3 |
| ZC3H12B | - | Xq12 |
| ZC3H12C | - | 11q22.3 |
| ZC3H12D | negative regulation of G1/S transition of mitotic cell cycle; negative regulation of cell growth | 6q25.1 |
| ZC3H13 | - | 13q14.13 |
| ZC3H14 | - | 14q31.3 |
| ZC3H15 | cytokine-mediated signaling pathway | 2q32.1 |
| ZC3H18 | - | 16q24.2 |
| ZC3H3 | mRNA polyadenylation; regulation of mRNA export from nucleus; poly(A)+ mRNA export from nucleus | 8q24.3 |
| ZC3H4 | - | 19q13.32 |
| ZC3H6 | - | 2q13 |
| ZC3H7A | - | 16p13-p12 |
| ZC3H7B | interspecies interaction between organisms | 22q13.2 |
| ZC3H8 | response to antibiotic; positive regulation of thymocyte apoptosis; negative regulation of transcription, DNA-dependent; T cell homeostasis; negative regulation of T cell differentiation in thymus; apoptotic process; regulation of transcription, DNA-dependent | 2q13 |
| ZC3HAV1 | response to virus; regulation of defense response to virus by host | 7q34 |
| ZC3HAV1L | - | 7q34 |
| ZC3HC1 | mitosis; cell cycle; cell division; anti-apoptosis | 7q32.2 |
| ZC4H2 | - | Xq11.2 |
| ZCCHC10 | - | 5q31.1 |
| ZCCHC11 | positive regulation of interleukin-6 production; histone mRNA catabolic process; negative regulation of NF-kappaB transcription factor activity; regulation of lipopolysaccharide-mediated signaling pathway; RNA 3'-end processing; pre-miRNA processing; gene silencing by RNA; stem cell maintenance; miRNA catabolic process; interleukin-6-mediated signaling pathway; miRNA metabolic process; cytokine production | 1p32.3 |
| ZCCHC12 | regulation of transcription, DNA-dependent | Xq24 |
| ZCCHC14 | cell communication | 16q24.2 |
| ZCCHC16 | - | Xq23 |
| ZCCHC17 | - | 1p35.2 |
| ZCCHC18 | - | Xq22.2 |
| ZCCHC2 | cell communication | 18q21.33 |
| ZCCHC23 | - | 4q25 |
| ZCCHC24 | - | 10q22.3 |
| ZCCHC3 | - | 20p13-p12.2 |
| ZCCHC4 | - | 4p15.2 |
| ZCCHC5 | - | Xq21.1 |
| ZCCHC6 | RNA 3'-end processing; histone mRNA catabolic process | 9q21 |
| ZCCHC7 | - | 9p13.2 |
| ZCCHC8 | nuclear mRNA splicing, via spliceosome; RNA splicing | 12q24.31 |
| ZCCHC9 | negative regulation of phosphatase activity | 5q14.1 |
| ZCRB1 | RNA splicing; mRNA processing | 12q12 |
| ZCWPW1 | - | 7q22.1 |
| ZCWPW2 | - | 3p24.1 |
| ZDBF2 | - | 2q33.3 |
| ZDHHC1 | protein palmitoylation | 16q22.1 |
| ZDHHC11 | - | 5p15.33 |
| ZDHHC11B | - | 5p15.33 |
| ZDHHC12 | - | 9q34.11 |
| ZDHHC13 | ion transmembrane transport; metabolic process; magnesium ion transport; signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 11p15.1 |
| ZDHHC14 | - | 6q25.3 |
| ZDHHC15 | establishment of protein localization; protein palmitoylation; synaptic vesicle maturation | Xq13.3 |
| ZDHHC16 | apoptotic process | 10q24.1 |
| ZDHHC17 | lipoprotein transport; magnesium ion transport; signal transduction; ion transport; protein palmitoylation; positive regulation of I-kappaB kinase/NF-kappaB cascade | 12q21.2 |
| ZDHHC18 | metabolic process; cellular protein localization | 1p36.11 |
| ZDHHC19 | - | 3q29 |
| ZDHHC2 | protein palmitoylation | 8p22 |
| ZDHHC20 | - | 13q12.11 |
| ZDHHC20-IT1 | - | - |
| ZDHHC20P4 | - | 13q21.33 |
| ZDHHC21 | regulation of nitric-oxide synthase activity; small molecule metabolic process; nitric oxide metabolic process | 9p22.3 |
| ZDHHC22 | - | 14q24.3 |
| ZDHHC23 | - | 3q13.31 |
| ZDHHC24 | - | 11q13.2 |
| ZDHHC3 | protein targeting; protein palmitoylation | 3p21.31 |
| ZDHHC4 | - | 7p22.1 |
| ZDHHC5 | - | 11q12.1 |
| ZDHHC6 | - | 10q25.2 |
| ZDHHC7 | - | 16q24.1 |
| ZDHHC8 | - | 22q11.21 |
| ZDHHC8P1 | - | 22q11.23 |
| ZDHHC9 | - | Xq26.1 |
| ZEB1 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; immune response; cellular response to transforming growth factor beta stimulus; cellular response to amino acid stimulus; cartilage development; regulation of smooth muscle cell differentiation; embryonic skeletal system morphogenesis; embryonic morphogenesis; embryonic camera-type eye morphogenesis; pattern specification process; negative regulation of transcription, DNA-dependent; positive regulation of neuron differentiation; regulation of T cell differentiation in thymus; response to nutrient levels; forebrain development; negative regulation of epithelial cell differentiation; cell differentiation; regulation of transforming growth factor beta receptor signaling pathway; response to activity; regulation of mesenchymal cell proliferation; negative regulation of cell proliferation; cell proliferation; central | 10p11.2 |
| ZEB1-AS1 | - | 10p11.22 |
| ZEB2 | somitogenesis; neural tube closure; nervous system development; central nervous system development; hippocampus development; cell proliferation in forebrain; positive regulation of Wnt receptor signaling pathway; neural crest cell migration; positive regulation of JUN kinase activity; embryonic morphogenesis | 2q22.3 |
| ZEB2-AS1 | - | 2q22.3 |
| ZEB2P1 | - | 4p15.32 |
| ZER1 | regulation of ubiquitin-protein ligase activity; protein ubiquitination; ATP hydrolysis coupled proton transport | 9q34.11 |
| ZFAND1 | - | 8q21.13 |
| ZFAND2A | - | 7p22.3 |
| ZFAND2B | - | 2q35 |
| ZFAND3 | - | 6pter-p22.3 |
| ZFAND4 | - | 10q11.22 |
| ZFAND5 | fibroblast migration; face development; smooth muscle tissue development; skeletal system morphogenesis; platelet-derived growth factor receptor signaling pathway; respiratory system process; vasculature development; in utero embryonic development | 9q13-q21 |
| ZFAND6 | signal transduction | 15q25.1 |
| ZFAS1 | - | 20q13.13 |
| ZFAT | regulation of transcription, DNA-dependent | 8q24.22 |
| ZFC3H1 | RNA processing | 12q21.1 |
| ZFHX2 | - | 14q11.2 |
| ZFHX3 | positive regulation of myoblast differentiation; negative regulation of myoblast differentiation; muscle organ development; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent | 16q22.3 |
| ZFHX4 | - | 8q21.11 |
| ZFHX4-AS1 | - | 8q21.11 |
| ZFP1 | regulation of transcription, DNA-dependent | 16q23.1 |
| ZFP14 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZFP2 | regulation of transcription, DNA-dependent | 5q35.3 |
| ZFP28 | regulation of transcription, DNA-dependent | - |
| ZFP3 | regulation of transcription, DNA-dependent | 17p13.2 |
| ZFP30 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZFP36 | mRNA catabolic process; negative regulation of transcription from RNA polymerase II promoter; response to stress; intracellular protein kinase cascade; gene expression; RNA metabolic process; mRNA metabolic process; regulation of tumor necrosis factor production; negative regulation of myeloid cell differentiation; negative regulation of inflammatory response; RNA destabilization; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening; 3'-UTR-mediated mRNA stabilization; regulation of mRNA stability | 19q13.1 |
| ZFP36L1 | regulation of mRNA stability; T cell differentiation in thymus; mRNA metabolic process; RNA metabolic process; gene expression; regulation of translation; mRNA catabolic process; regulation of transcription, DNA-dependent; vasculogenesis; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 14q22-q24 |
| ZFP36L2 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; regulation of transcription, DNA-dependent; cell proliferation; T cell differentiation in thymus; regulation of mRNA stability | 2p22.3-p21 |
| ZFP37 | regulation of transcription, DNA-dependent; cell differentiation; cell proliferation | 9q32 |
| ZFP41 | spermatogenesis; cell differentiation; regulation of transcription, DNA-dependent; multicellular organismal development | 8q24.3 |
| ZFP42 | female gonad development; male gonad development; meiosis; regulation of transcription, DNA-dependent | 4q35.2 |
| ZFP57 | regulation of transcription, DNA-dependent; regulation of gene expression by genetic imprinting; DNA methylation involved in embryo development; multicellular organismal development | 6p22.1 |
| ZFP62 | regulation of transcription, DNA-dependent | 5q35.3 |
| ZFP64 | regulation of transcription, DNA-dependent | 20q13.2 |
| ZFP69 | - | 1p34.2 |
| ZFP69B | - | 1p34.2 |
| ZFP82 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZFP90 | negative regulation of DNA binding; positive regulation of transcription, DNA-dependent | 16q22.1 |
| ZFP91 | protein K63-linked ubiquitination; activation of NF-kappaB-inducing kinase activity | 11q12 |
| ZFP91-CNTF | - | 11q12.2 |
| ZFP92 | regulation of transcription, DNA-dependent | Xq28 |
| ZFPL1 | vesicle-mediated transport; regulation of transcription, DNA-dependent | 11q13 |
| ZFPM1 | negative regulation of transcription from RNA polymerase II promoter; T-helper cell lineage commitment; outflow tract morphogenesis; ventricular septum morphogenesis; mitral valve formation; negative regulation of mast cell differentiation; atrial septum morphogenesis; transcriptional activation by promoter-enhancer looping; primitive erythrocyte differentiation; cardiac muscle tissue morphogenesis; negative regulation of fat cell differentiation; negative regulation of interleukin-4 biosynthetic process; positive regulation of interferon-gamma biosynthetic process; embryonic hemopoiesis; negative regulation of protein binding; platelet formation; atrioventricular valve morphogenesis; tricuspid valve formation; regulation of transcription, DNA-dependent; heart development; blood coagulation; megakaryocyte differentiation; regulation of definitive erythrocyte differentiation; erythrocyte differentiation | 16q24.2 |
| ZFPM2 | ventricular septum morphogenesis; lung development; negative regulation of female gonad development; positive regulation of male gonad development; negative regulation of cell death; cardiac muscle tissue development; embryonic organ development; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of fat cell differentiation; blood coagulation; right ventricular cardiac muscle tissue morphogenesis; outflow tract septum morphogenesis; in utero embryonic development; vasculogenesis; negative regulation of transcription from RNA polymerase II promoter | 8q23 |
| ZFR | multicellular organismal development | 5p13.3 |
| ZFR2 | - | 19p13.3 |
| ZFX | regulation of transcription, DNA-dependent | Xp21.3 |
| ZFY | regulation of transcription, DNA-dependent | Yp11.3 |
| ZFY-AS1 | - | - |
| ZFYVE1 | negative regulation of phosphatase activity | 14q24.2 |
| ZFYVE16 | signal transduction; protein targeting to lysosome; BMP signaling pathway; regulation of endocytosis; endosome transport; vesicle organization | 5q14 |
| ZFYVE19 | - | 15q15.1 |
| ZFYVE21 | - | 14q32.33 |
| ZFYVE26 | cytokinesis; DNA repair; cell cycle; double-strand break repair via homologous recombination; cell death | 14q24.1 |
| ZFYVE27 | cell death; protein localization in plasma membrane; nerve growth factor receptor signaling pathway; neuron projection development | 10q24.2 |
| ZFYVE28 | negative regulation of epidermal growth factor-activated receptor activity; negative regulation of epidermal growth factor receptor signaling pathway | 4p16.3 |
| ZFYVE9 | SMAD protein complex assembly; SMAD protein import into nucleus; endocytosis; transforming growth factor beta receptor signaling pathway | 1p32.3 |
| ZFYVE9P1 | - | Xq26.3 |
| ZG16 | protein transport | 16p11.2 |
| ZG16B | - | 16p13.3 |
| ZGLP1 | multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; spermatogenesis; positive regulation of protein binding; positive regulation of peptidyl-serine phosphorylation; negative regulation of apoptotic process; oocyte development; positive regulation of ERK1 and ERK2 cascade | 19p13.2 |
| ZGPAT | negative regulation of epidermal growth factor-activated receptor activity; negative regulation of transcription, DNA-dependent | 20q13.3 |
| ZGRF1 | - | 4q25 |
| ZHX1 | negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 8q24.13 |
| ZHX1-C8orf76 | - | 8q |
| ZHX2 | somatic stem cell maintenance; negative regulation of neuron differentiation; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; mRNA catabolic process | 8q24.13 |
| ZHX3 | positive regulation of osteoblast differentiation; negative regulation of transcription, DNA-dependent | 20q12 |
| ZIC1 | brain development; behavior; regulation of smoothened signaling pathway; spinal cord development; cell differentiation; positive regulation of protein import into nucleus; inner ear morphogenesis; positive regulation of transcription, DNA-dependent; pattern specification process; regulation of transcription, DNA-dependent | 3q24 |
| ZIC2 | positive regulation of transcription, DNA-dependent; multicellular organismal development; neural tube closure; positive regulation of sequence-specific DNA binding transcription factor activity; developmental pigmentation; negative regulation of transcription, DNA-dependent; cell differentiation; retinal ganglion cell axon guidance; visual perception; brain development | 13q32 |
| ZIC3 | heart looping; determination of left/right symmetry; pattern specification process; anterior/posterior pattern specification; cell differentiation; determination of left/right asymmetry in nervous system; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | Xq26.2 |
| ZIC4 | - | 3q24 |
| ZIC5 | cell differentiation; nervous system development; multicellular organismal development | 13q32.3 |
| ZIK1 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZIK1P1 | - | Xq25 |
| ZIM3 | regulation of transcription, DNA-dependent | - |
| ZKSCAN1 | regulation of transcription, DNA-dependent; viral reproduction | 7q22 |
| ZKSCAN2 | viral reproduction | 16p12.1 |
| ZKSCAN3 | viral reproduction; positive regulation of transcription, DNA-dependent | 6p22.1 |
| ZKSCAN4 | viral reproduction | 6p21 |
| ZKSCAN5 | regulation of transcription, DNA-dependent; viral reproduction | 7q22 |
| ZKSCAN7 | - | 3p21.32 |
| ZKSCAN8 | - | 6p21.3 |
| ZMAT1 | - | Xq21 |
| ZMAT2 | - | 5q31.3 |
| ZMAT3 | regulation of growth; protein transport; apoptotic process; induction of apoptosis; response to DNA damage stimulus | 3q26.32 |
| ZMAT4 | - | 8p11.21 |
| ZMAT5 | mRNA processing; RNA splicing | 22cen-q12.3 |
| ZMIZ1 | artery morphogenesis; developmental growth; positive regulation of fibroblast proliferation; positive regulation of transcription from RNA polymerase II promoter; heart morphogenesis; cell aging; vitellogenesis; regulation of transcription, DNA-dependent; in utero embryonic development; vasculogenesis | 10q22.3 |
| ZMIZ1-AS1 | - | 10q22.3 |
| ZMIZ2 | regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 7p13 |
| ZMPSTE24 | prenylated protein catabolic process; metabolic process; nuclear envelope organization; proteolysis | 1p34 |
| ZMYM1 | - | 1p34.3 |
| ZMYM2 | regulation of transcription, DNA-dependent | 13q11-q12 |
| ZMYM3 | regulation of cell morphogenesis; multicellular organismal development; cytoskeleton organization | Xq13.1 |
| ZMYM4 | regulation of cell morphogenesis; multicellular organismal development; cytoskeleton organization | 1p32-p34 |
| ZMYM5 | - | 13q12 |
| ZMYM6 | cytoskeleton organization; multicellular organismal development; regulation of cell morphogenesis | 1p34.2 |
| ZMYND10 | - | 3p21.3 |
| ZMYND10-AS1 | - | - |
| ZMYND11 | negative regulation of I-kappaB kinase/NF-kappaB cascade; interspecies interaction between organisms; negative regulation of JNK cascade; cell proliferation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of extrinsic apoptotic signaling pathway; regulation of transcription, DNA-dependent; cell cycle | 10p14 |
| ZMYND12 | - | 1p34.2 |
| ZMYND15 | cell differentiation; spermatogenesis; regulation of transcription, DNA-dependent | 17p13.2 |
| ZMYND19 | - | 9q34.3 |
| ZMYND19P1 | - | - |
| ZMYND8 | negative regulation of transcription from RNA polymerase II promoter | 20q13.12 |
| ZNF10 | regulation of transcription, DNA-dependent | 12q24.33 |
| ZNF100 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF101 | regulation of transcription, DNA-dependent | 19p13.11 |
| ZNF101P2 | - | 1q31.2 |
| ZNF106 | - | 15q15.1 |
| ZNF107 | regulation of transcription, DNA-dependent | 7q11.2 |
| ZNF112 | regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF114 | regulation of transcription, DNA-dependent | 19q13.33 |
| ZNF117 | regulation of transcription, DNA-dependent | 7q11.21 |
| ZNF12 | negative regulation of transcription, DNA-dependent | 7p22.1 |
| ZNF121 | regulation of transcription, DNA-dependent | 19p |
| ZNF123P | - | 11q24.3 |
| ZNF124 | regulation of transcription, DNA-dependent | 1q44 |
| ZNF131 | regulation of transcription, DNA-dependent | 5p12 |
| ZNF132 | regulation of transcription, DNA-dependent | 19q13.4 |
| ZNF133 | regulation of transcription, DNA-dependent | 20p11.23 |
| ZNF134 | regulation of transcription, DNA-dependent | 19q13.4 |
| ZNF135 | regulation of transcription, DNA-dependent; cytoskeleton organization; regulation of cell morphogenesis | 19q13.4 |
| ZNF136 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 19p13.2 |
| ZNF137P | - | 19q13.4 |
| ZNF138 | regulation of transcription, DNA-dependent | 7q11.21 |
| ZNF14 | regulation of transcription, DNA-dependent | 19p13.11 |
| ZNF140 | regulation of transcription, DNA-dependent | 12q24.33 |
| ZNF141 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; anatomical structure morphogenesis | 4p16.3 |
| ZNF142 | regulation of transcription, DNA-dependent | 2q35 |
| ZNF143 | regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase III promoter; transcription from RNA polymerase II promoter; transcription from RNA polymerase III promoter; gene expression | 11p15.4 |
| ZNF146 | regulation of transcription, DNA-dependent | 19q13.1 |
| ZNF148 | negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of gene expression; gamete generation; cellular defense response; protein complex assembly; transcription from RNA polymerase II promoter | 3q21 |
| ZNF154 | regulation of transcription, DNA-dependent | 19q13.4 |
| ZNF155 | regulation of transcription, DNA-dependent | 19q13.2-q13.32 |
| ZNF157 | negative regulation of transcription from RNA polymerase II promoter | Xp11.2 |
| ZNF16 | regulation of transcription, DNA-dependent | 8q24 |
| ZNF160 | regulation of transcription, DNA-dependent; hemopoiesis | 19q13.42 |
| ZNF165 | regulation of transcription, DNA-dependent; viral reproduction | 6p21.3 |
| ZNF169 | regulation of transcription, DNA-dependent | 9q22.32 |
| ZNF17 | regulation of transcription, DNA-dependent | 19q13.4 |
| ZNF174 | viral reproduction; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent | 16p13.3 |
| ZNF175 | regulation of transcription, DNA-dependent; response to virus | 19q13.4 |
| ZNF177 | - | 19p13.2 |
| ZNF18 | viral reproduction | 17p11.2 |
| ZNF180 | regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF181 | regulation of transcription, DNA-dependent | 19q13.11 |
| ZNF182 | regulation of transcription, DNA-dependent | Xp11.23 |
| ZNF184 | regulation of transcription, DNA-dependent | 6p21.3 |
| ZNF185 | - | Xq28 |
| ZNF189 | negative regulation of transcription from RNA polymerase II promoter | 9q22-q31 |
| ZNF19 | regulation of transcription, DNA-dependent | 16q22 |
| ZNF192P1 | - | 6p22.1 |
| ZNF192P2 | - | 6p22.1 |
| ZNF195 | regulation of transcription, DNA-dependent | 11p15.5 |
| ZNF197 | viral reproduction; regulation of transcription, DNA-dependent | 3p21 |
| ZNF2 | regulation of transcription, DNA-dependent | 2q11.2 |
| ZNF200 | regulation of transcription, DNA-dependent | 16p13.3 |
| ZNF202 | lipid metabolic process; viral reproduction; transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter | 11q23.3 |
| ZNF204P | - | 6p21.3 |
| ZNF205 | regulation of transcription, DNA-dependent | 16p13.3 |
| ZNF205-AS1 | - | 16p13.3 |
| ZNF207 | regulation of transcription, DNA-dependent | 17q11.2 |
| ZNF208 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF209P | - | 19p12 |
| ZNF211 | regulation of transcription, DNA-dependent | 19q13.4 |
| ZNF212 | regulation of transcription, DNA-dependent | 7q36.1 |
| ZNF213 | viral reproduction | 16p13.3 |
| ZNF214 | regulation of transcription, DNA-dependent | 11p15.4 |
| ZNF215 | regulation of transcription, DNA-dependent; viral reproduction | 11p15.4 |
| ZNF217 | transcription, DNA-dependent; regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent | 20q13.2 |
| ZNF219 | negative regulation of transcription, DNA-dependent; G-protein coupled receptor signaling pathway; regulation of transcription, DNA-dependent; transcription, DNA-dependent | 14q11 |
| ZNF22 | regulation of transcription, DNA-dependent; odontogenesis | 10q11 |
| ZNF221 | regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF222 | regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF223 | regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF224 | negative regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF225 | regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF226 | regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF227 | regulation of transcription, DNA-dependent | - |
| ZNF229 | regulation of transcription, DNA-dependent | 19q13.31 |
| ZNF23 | regulation of transcription, DNA-dependent | 16q22.2 |
| ZNF230 | regulation of transcription, DNA-dependent | 19q13.31 |
| ZNF232 | viral reproduction | 17p13.2 |
| ZNF233 | regulation of transcription, DNA-dependent | 19q13.31 |
| ZNF234 | regulation of transcription, DNA-dependent | 19q13.31 |
| ZNF235 | regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF236 | regulation of transcription, DNA-dependent; cellular response to glucose stimulus | 18q22-q23 |
| ZNF239 | regulation of transcription, DNA-dependent | 10q11.22-q11.23 |
| ZNF24 | viral reproduction; myelination; negative regulation of transcription, DNA-dependent | 18q12 |
| ZNF248 | regulation of transcription, DNA-dependent | 10p11.2 |
| ZNF25 | regulation of transcription, DNA-dependent | 10p11.1 |
| ZNF250 | regulation of transcription, DNA-dependent | 8q24.3 |
| ZNF251 | regulation of transcription, DNA-dependent | 8q24.3 |
| ZNF252P | - | 8q24.3 |
| ZNF252P-AS1 | - | 8q24.3 |
| ZNF253 | regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent | 19p13.11 |
| ZNF254 | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 19p12 |
| ZNF256 | multicellular organismal development; negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF257 | regulation of transcription, DNA-dependent | 19q13 |
| ZNF259P1 | - | 6q21 |
| ZNF26 | regulation of transcription, DNA-dependent | 12q24.33 |
| ZNF260 | multicellular organismal development; regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF263 | negative regulation of transcription, DNA-dependent; viral reproduction; regulation of transcription, DNA-dependent | 16p13.3 |
| ZNF264 | regulation of transcription, DNA-dependent | 19q13.4 |
| ZNF266 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF267 | multicellular organismal development; regulation of transcription, DNA-dependent | 16p11.2 |
| ZNF268 | regulation of transcription, DNA-dependent | 12q24.33 |
| ZNF271P | - | 18q12 |
| ZNF273 | regulation of transcription, DNA-dependent | 7q11.21 |
| ZNF274 | viral reproduction; regulation of transcription, DNA-dependent | 19qter |
| ZNF275 | regulation of transcription, DNA-dependent | Xq28 |
| ZNF276 | regulation of transcription, DNA-dependent | 16q24.3 |
| ZNF277 | regulation of transcription, DNA-dependent | 7q31.1 |
| ZNF28 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF280A | regulation of transcription, DNA-dependent | 22q11.22 |
| ZNF280B | regulation of transcription, DNA-dependent | 22q11.22 |
| ZNF280C | regulation of transcription, DNA-dependent | Xq26.1 |
| ZNF281 | negative regulation of gene expression; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 1q32.1 |
| ZNF282 | negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 7q36.1 |
| ZNF283 | regulation of transcription, DNA-dependent | 19q13.31 |
| ZNF284 | regulation of transcription, DNA-dependent | 19q13.31 |
| ZNF285 | regulation of transcription, DNA-dependent | - |
| ZNF285B | - | 19q13.31 |
| ZNF286A | regulation of transcription, DNA-dependent | 17p11.2 |
| ZNF286B | regulation of transcription, DNA-dependent | 17p11.2 |
| ZNF287 | viral reproduction; regulation of cytokine biosynthetic process; positive regulation of transcription, DNA-dependent | 17p11.2 |
| ZNF292 | regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 6q14.3 |
| ZNF295-AS1 | - | 21q22.3 |
| ZNF296 | regulation of transcription, DNA-dependent; spermatogenesis | 19q13.32 |
| ZNF299P | - | 21q21.1 |
| ZNF29P | - | 17p12 |
| ZNF3 | multicellular organismal development; cell differentiation; leukocyte activation; regulation of transcription, DNA-dependent | 7q22.1 |
| ZNF30 | regulation of transcription, DNA-dependent | 19q13.11 |
| ZNF300 | regulation of transcription, DNA-dependent | 5q33.1 |
| ZNF300P1 | regulation of transcription, DNA-dependent | 5q33.1 |
| ZNF302 | regulation of transcription, DNA-dependent | 19q13.11 |
| ZNF304 | regulation of transcription, DNA-dependent | 19q13.4 |
| ZNF311 | regulation of transcription, DNA-dependent | 6p22.1 |
| ZNF316 | regulation of transcription, DNA-dependent | 7p22.1 |
| ZNF317 | regulation of transcription, DNA-dependent | 19p13 |
| ZNF317P1 | - | 8q22.1 |
| ZNF318 | regulation of transcription, DNA-dependent; meiosis | 6pter-p12.1 |
| ZNF319 | regulation of transcription, DNA-dependent | 16q21 |
| ZNF32 | regulation of transcription, DNA-dependent | 10q22-q25 |
| ZNF320 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF322 | regulation of transcription, DNA-dependent | 6p22.1 |
| ZNF322P1 | - | 9q22.33 |
| ZNF324 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF324B | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF326 | regulation of transcription, DNA-dependent | 1p22.2 |
| ZNF329 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF330 | - | 4q31.21 |
| ZNF331 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF333 | regulation of transcription, DNA-dependent | 19p13 |
| ZNF334 | regulation of transcription, DNA-dependent | 20q13.12 |
| ZNF335 | regulation of transcription, DNA-dependent | 20q13.12 |
| ZNF337 | regulation of transcription, DNA-dependent | 20p11.1 |
| ZNF33A | regulation of transcription, DNA-dependent | 10p11.2 |
| ZNF33AP1 | - | 10p11 |
| ZNF33B | regulation of transcription, DNA-dependent | 10q11.2 |
| ZNF33BP1 | - | - |
| ZNF34 | regulation of transcription, DNA-dependent | 8q24.3 |
| ZNF341 | regulation of transcription, DNA-dependent | 20q11.22 |
| ZNF341-AS1 | - | 20q11.22 |
| ZNF343 | regulation of transcription, DNA-dependent | 20p13 |
| ZNF345 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase III promoter; transcription from RNA polymerase II promoter; transcription from RNA polymerase III promoter | 19q13.12 |
| ZNF346 | apoptotic process | 5q35.2 |
| ZNF347 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF35 | spermatogenesis; cellular response to retinoic acid; regulation of transcription, DNA-dependent | 3p21.32 |
| ZNF350 | regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF354A | regulation of transcription from RNA polymerase II promoter; sensory perception of sound | 5q35.3 |
| ZNF354B | regulation of transcription, DNA-dependent | 5q35.3 |
| ZNF354C | regulation of transcription, DNA-dependent | 5q35 |
| ZNF355P | regulation of transcription, DNA-dependent | 21q11.2 |
| ZNF358 | regulation of transcription, DNA-dependent; stem cell maintenance; neural tube development; embryonic forelimb morphogenesis | 19p13.2 |
| ZNF362 | regulation of transcription, DNA-dependent | 1p35.1 |
| ZNF365 | - | 10q21.2 |
| ZNF366 | response to estrogen stimulus; negative regulation of transcription from RNA polymerase II promoter; negative regulation of intracellular estrogen receptor signaling pathway; regulation of transcription, DNA-dependent | 5q13.2|5q13.2 |
| ZNF367 | regulation of transcription from RNA polymerase II promoter | 9q22|9q22.32 |
| ZNF37A | regulation of transcription, DNA-dependent | 10p11.2 |
| ZNF37BP | - | 10q11.21 |
| ZNF382 | negative regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF383 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF384 | regulation of transcription, DNA-dependent; nucleocytoplasmic transport | 12p12 |
| ZNF385A | regulation of transcription, DNA-dependent | 12q13.13 |
| ZNF385B | - | 2q31.2-q31.3 |
| ZNF385C | - | 17q21.2 |
| ZNF385D | - | 3p24.3 |
| ZNF385D-AS1 | - | - |
| ZNF385D-AS2 | - | - |
| ZNF391 | regulation of transcription, DNA-dependent | 6p22.1 |
| ZNF394 | viral reproduction | 7q22.1 |
| ZNF395 | regulation of transcription, DNA-dependent | 8p21.1 |
| ZNF396 | viral reproduction | 18q12 |
| ZNF397 | viral reproduction | 18q12.2 |
| ZNF398 | positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 7q36.1 |
| ZNF402P | - | 22q11.1 |
| ZNF404 | regulation of transcription, DNA-dependent | 19q13.31 |
| ZNF407 | regulation of transcription, DNA-dependent | 18q23 |
| ZNF408 | regulation of transcription, DNA-dependent | 11p11.2 |
| ZNF41 | regulation of transcription, DNA-dependent | Xp11.23 |
| ZNF410 | regulation of transcription, DNA-dependent | 14q24.3 |
| ZNF414 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF415 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF416 | regulation of transcription, DNA-dependent | 19q13.4 |
| ZNF417 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF418 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF419 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF420 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF423 | negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of BMP signaling pathway; cell differentiation; nervous system development; multicellular organismal development; Notch signaling pathway | 16q12 |
| ZNF425 | negative regulation of transcription, DNA-dependent | 7q36.1 |
| ZNF426 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF428 | - | 19q13.31 |
| ZNF429 | regulation of transcription, DNA-dependent | 19p13.1 |
| ZNF43 | regulation of transcription, DNA-dependent | 19p13.1-p12 |
| ZNF430 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF431 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF432 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF433 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF436 | regulation of transcription, DNA-dependent | 1p36 |
| ZNF436-AS1 | - | 1p36.12 |
| ZNF438 | negative regulation of transcription, DNA-dependent | 10p11.23 |
| ZNF439 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF44 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF440 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF441 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF442 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF443 | response to stress; regulation of transcription, DNA-dependent; induction of apoptosis | 19p13.2 |
| ZNF444 | viral reproduction | 19q13.43 |
| ZNF444P1 | - | - |
| ZNF445 | viral reproduction | 3p21.32 |
| ZNF446 | viral reproduction | 19q13.43 |
| ZNF449 | viral reproduction | Xq26.3 |
| ZNF45 | gene expression; multicellular organismal development; regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF451 | regulation of transcription, DNA-dependent | 6p12.1 |
| ZNF454 | regulation of transcription, DNA-dependent | 5q35.3 |
| ZNF460 | regulation of transcription, DNA-dependent | 19q13.4 |
| ZNF461 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF462 | regulation of transcription, DNA-dependent; negative regulation of DNA binding; positive regulation of transcription from RNA polymerase II promoter | 9q31.2 |
| ZNF467 | regulation of transcription, DNA-dependent | 7q36.1 |
| ZNF468 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF469 | regulation of transcription, DNA-dependent | 16q24 |
| ZNF470 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF471 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF473 | histone mRNA 3'-end processing; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; histone mRNA metabolic process; gene expression | 19q13.33 |
| ZNF474 | - | 5q23.2 |
| ZNF48 | regulation of transcription, DNA-dependent | 16p11.2 |
| ZNF480 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF483 | viral reproduction | 9q31.3 |
| ZNF484 | regulation of transcription, DNA-dependent | 9q22.31 |
| ZNF485 | regulation of transcription, DNA-dependent | 10q11.21 |
| ZNF486 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF487 | regulation of transcription, DNA-dependent | 10q11.21 |
| ZNF488 | negative regulation of transcription, DNA-dependent; positive regulation of oligodendrocyte differentiation; oligodendrocyte development | 10q11.22 |
| ZNF490 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF491 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF492 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF493 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF496 | negative regulation of transcription from RNA polymerase II promoter; viral reproduction; positive regulation of transcription, DNA-dependent | 1q44 |
| ZNF497 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF500 | viral reproduction | 16p13.3 |
| ZNF501 | regulation of transcription, DNA-dependent | 3p21.31 |
| ZNF502 | regulation of transcription, DNA-dependent | 3p21.31 |
| ZNF503 | regulation of transcription, DNA-dependent | 10q22.2 |
| ZNF503-AS1 | - | 10q22.2 |
| ZNF503-AS2 | - | 10q22.2 |
| ZNF506 | regulation of transcription, DNA-dependent | 19p13.11 |
| ZNF507 | regulation of transcription, DNA-dependent | 19q13.11 |
| ZNF510 | regulation of transcription, DNA-dependent | 9q22.33 |
| ZNF511 | regulation of transcription, DNA-dependent | 10q26.3 |
| ZNF512 | regulation of transcription, DNA-dependent | 2p23 |
| ZNF512B | regulation of transcription, DNA-dependent | 20q13.33 |
| ZNF513 | retina development in camera-type eye; response to stimulus; visual perception; regulation of transcription, DNA-dependent | 2p23.3 |
| ZNF514 | regulation of transcription, DNA-dependent | 2q11.1 |
| ZNF516 | regulation of transcription, DNA-dependent | 18q23 |
| ZNF517 | regulation of transcription, DNA-dependent | 8q24.3 |
| ZNF518A | regulation of transcription, DNA-dependent | 10q24.1 |
| ZNF518B | regulation of transcription, DNA-dependent | 4p16.1 |
| ZNF519 | regulation of transcription, DNA-dependent | 18p11.21 |
| ZNF521 | regulation of transcription, DNA-dependent; multicellular organismal development; cell differentiation | 18q11.2 |
| ZNF524 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF525 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF526 | regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF527 | regulation of transcription, DNA-dependent | 19q13.1 |
| ZNF528 | regulation of transcription, DNA-dependent | 19q13 |
| ZNF529 | regulation of transcription, DNA-dependent | 19q13.13 |
| ZNF530 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF532 | regulation of transcription, DNA-dependent | 18q21.32 |
| ZNF534 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF536 | regulation of transcription, DNA-dependent; negative regulation of neuron differentiation; negative regulation of retinoic acid receptor signaling pathway | 19q12 |
| ZNF540 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF541 | regulation of transcription, DNA-dependent; multicellular organismal development; spermatogenesis; cell differentiation | 19q13.33 |
| ZNF542P | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF543 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF544 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF546 | regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF547 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF548 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF549 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF550 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF551 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF552 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF554 | regulation of transcription, DNA-dependent | 19p13.3 |
| ZNF555 | regulation of transcription, DNA-dependent | 19p13.3 |
| ZNF556 | regulation of transcription, DNA-dependent | 19p13.3 |
| ZNF557 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF558 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF559 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF56 | regulation of transcription, DNA-dependent | 19p13.1 |
| ZNF560 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF561 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF561-AS1 | - | 19p13.2 |
| ZNF562 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF563 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF564 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF565 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF566 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF567 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF568 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF569 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF57 | regulation of transcription, DNA-dependent | 19p13.3 |
| ZNF570 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF571 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF571-AS1 | - | - |
| ZNF572 | regulation of transcription, DNA-dependent | 8q24.13 |
| ZNF573 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF574 | regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF575 | regulation of transcription, DNA-dependent | 19q13.31 |
| ZNF576 | regulation of transcription, DNA-dependent | 19q13.31 |
| ZNF577 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF578 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF579 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF580 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF581 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF582 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF582-AS1 | - | 19q13.43 |
| ZNF583 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF584 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF585A | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF585B | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF586 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF587 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF587B | - | - |
| ZNF589 | regulation of transcription, DNA-dependent | 3p21 |
| ZNF592 | regulation of transcription, DNA-dependent; cell death | 15q25.3 |
| ZNF593 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 1p36.11 |
| ZNF594 | regulation of transcription, DNA-dependent | 17p13 |
| ZNF595 | regulation of transcription, DNA-dependent | 4p16.3 |
| ZNF596 | regulation of transcription, DNA-dependent | 8p23.3 |
| ZNF597 | regulation of transcription, DNA-dependent | 16p13.3 |
| ZNF598 | - | 16p13.3 |
| ZNF599 | regulation of transcription, DNA-dependent | 19q13.11 |
| ZNF600 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF605 | regulation of transcription, DNA-dependent | 12q24.33 |
| ZNF606 | regulation of transcription, DNA-dependent | 19q13.4 |
| ZNF607 | regulation of transcription, DNA-dependent | 19q13.1 |
| ZNF608 | - | 5q23.2 |
| ZNF609 | - | 15q22.31 |
| ZNF610 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF611 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF613 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF614 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF615 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF616 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF618 | regulation of transcription, DNA-dependent | 9q32 |
| ZNF619 | regulation of transcription, DNA-dependent | 3p22.1 |
| ZNF620 | regulation of transcription, DNA-dependent | 3p22.1 |
| ZNF621 | regulation of transcription, DNA-dependent | 3p22.1 |
| ZNF622 | positive regulation of apoptotic process; induction of apoptosis by oxidative stress; positive regulation of kinase activity; positive regulation of JNK cascade; positive regulation of MAPK cascade | 5p15.1 |
| ZNF623 | regulation of transcription, DNA-dependent | 8q24.3 |
| ZNF624 | regulation of transcription, DNA-dependent | 17p11.2 |
| ZNF625 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF626 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF627 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF628 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF629 | regulation of transcription, DNA-dependent | 16p11.2 |
| ZNF630 | regulation of transcription, DNA-dependent | Xp11.3-p11.1 |
| ZNF630-AS1 | - | - |
| ZNF638 | regulation of transcription, DNA-dependent; RNA splicing | 2p13.1 |
| ZNF639 | positive regulation by host of viral transcription; initiation of viral infection; positive regulation of cell growth; negative regulation by host of viral transcription; negative regulation of transcription, DNA-dependent | 3q26.33 |
| ZNF641 | regulation of transcription, DNA-dependent | 12q13.11 |
| ZNF644 | regulation of transcription, DNA-dependent | 1p22.2 |
| ZNF646 | regulation of transcription, DNA-dependent | 16p11.2 |
| ZNF648 | regulation of transcription, DNA-dependent | 1q25.3 |
| ZNF649 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF652 | regulation of transcription, DNA-dependent | 17q21.32 |
| ZNF653 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF654 | regulation of transcription, DNA-dependent | 3p11.1 |
| ZNF655 | regulation of transcription, DNA-dependent; G1 phase; regulation of mitotic cell cycle | 7q22.1 |
| ZNF658 | regulation of transcription, DNA-dependent | 9p13.1 |
| ZNF658B | regulation of transcription, DNA-dependent | 9p12 |
| ZNF660 | regulation of transcription, DNA-dependent | 3p21.31 |
| ZNF662 | regulation of transcription, DNA-dependent | 3p22.1 |
| ZNF663P | regulation of transcription, DNA-dependent | 20q13.12 |
| ZNF664 | regulation of transcription, DNA-dependent | 12q24.31 |
| ZNF665 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF667 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF667-AS1 | - | 19q13.43 |
| ZNF668 | regulation of transcription, DNA-dependent | 16p11.2 |
| ZNF669 | regulation of transcription, DNA-dependent | 1q44 |
| ZNF66P | regulation of transcription, DNA-dependent | 19p12 |
| ZNF670 | regulation of transcription, DNA-dependent | 1q44 |
| ZNF671 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF672 | regulation of transcription, DNA-dependent | 1q44 |
| ZNF674 | regulation of transcription, DNA-dependent | Xp11.3 |
| ZNF674-AS1 | - | Xp11.23 |
| ZNF675 | negative regulation of osteoclast differentiation; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; bone resorption; negative regulation of JNK cascade; I-kappaB kinase/NF-kappaB cascade; negative regulation of JUN kinase activity; negative regulation of NF-kappaB transcription factor activity; cytokine-mediated signaling pathway; negative regulation of tumor necrosis factor-mediated signaling pathway; negative regulation of interleukin-1-mediated signaling pathway; negative regulation of transcription regulatory region DNA binding | 19p12 |
| ZNF676 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF677 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF678 | regulation of transcription, DNA-dependent | 1q42.13 |
| ZNF680 | regulation of transcription, DNA-dependent | 7q11.21 |
| ZNF681 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF682 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF683 | regulation of transcription, DNA-dependent | 1p36.11 |
| ZNF684 | regulation of transcription, DNA-dependent | 1p34.2 |
| ZNF687 | regulation of transcription, DNA-dependent | 1q21.3 |
| ZNF688 | regulation of transcription, DNA-dependent | 16p11.2 |
| ZNF689 | regulation of transcription, DNA-dependent | 16p11.2 |
| ZNF69 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF691 | - | 1p34.2 |
| ZNF692 | regulation of transcription, DNA-dependent | 1q44 |
| ZNF695 | regulation of transcription, DNA-dependent | 1q44 |
| ZNF696 | regulation of transcription, DNA-dependent | 8q24.3 |
| ZNF697 | regulation of transcription, DNA-dependent | 1p12 |
| ZNF699 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF7 | regulation of transcription, DNA-dependent; multicellular organismal development | 8q24 |
| ZNF70 | regulation of transcription, DNA-dependent | 22q11.23 |
| ZNF700 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF701 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF702P | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF703 | adherens junction assembly; regulation of transcription, DNA-dependent; positive regulation of cell proliferation; positive regulation of epithelial to mesenchymal transition; regulation of transforming growth factor beta receptor signaling pathway; regulation of canonical Wnt receptor signaling pathway; mammary gland epithelial cell differentiation; regulation of cell cycle; positive regulation of cell migration; positive regulation of mammary gland epithelial cell proliferation; negative regulation of homotypic cell-cell adhesion; negative regulation of transcription, DNA-dependent | 8p11.23 |
| ZNF704 | - | 8q21.13 |
| ZNF705G | regulation of transcription, DNA-dependent | 8p23.1 |
| ZNF706 | - | 8q22.3 |
| ZNF707 | regulation of transcription, DNA-dependent | 8q24.3 |
| ZNF708 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF709 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF70P1 | - | 6p21.32 |
| ZNF71 | regulation of transcription, DNA-dependent | 19q13.4 |
| ZNF710 | regulation of transcription, DNA-dependent | 15q26.1 |
| ZNF711 | positive regulation of transcription, DNA-dependent | Xq21.1 |
| ZNF713 | regulation of transcription, DNA-dependent | 7p11.2 |
| ZNF714 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF716 | regulation of transcription, DNA-dependent | 7p11.2 |
| ZNF717 | regulation of transcription, DNA-dependent | 3p12.3 |
| ZNF718 | regulation of transcription, DNA-dependent | 4p16.3 |
| ZNF720 | regulation of transcription, DNA-dependent | 16p11.2 |
| ZNF721 | regulation of transcription, DNA-dependent | 4p16.3 |
| ZNF723 | - | 19p12 |
| ZNF724P | regulation of transcription, DNA-dependent | 19p12 |
| ZNF725P | regulation of transcription, DNA-dependent | 19p12 |
| ZNF726 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF727 | regulation of transcription, DNA-dependent | 7q11.21 |
| ZNF728 | - | 19p12 |
| ZNF729 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF730 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF731P | - | 1q44 |
| ZNF732 | regulation of transcription, DNA-dependent | 4p16.3 |
| ZNF733P | - | 7q11.21 |
| ZNF735 | regulation of transcription, DNA-dependent | 7q11.21 |
| ZNF736 | regulation of transcription, DNA-dependent | 7q11.21 |
| ZNF736P7Y | - | - |
| ZNF736P9Y | - | - |
| ZNF737 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF738 | regulation of apoptotic process; protein polyubiquitination; regulation of transcription, DNA-dependent | 19p12 |
| ZNF74 | regulation of transcription, DNA-dependent; multicellular organismal development | 22q11.21 |
| ZNF740 | regulation of transcription, DNA-dependent | 12q13.13 |
| ZNF746 | neuron death; regulation of cell death; negative regulation of transcription, DNA-dependent | 7q36.1 |
| ZNF747 | regulation of transcription, DNA-dependent | 16p11.2 |
| ZNF749 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF750 | - | 17q25.3 |
| ZNF75A | regulation of transcription, DNA-dependent | 16p13.3 |
| ZNF75CP | viral reproduction | 11q14.1 |
| ZNF75D | regulation of transcription, DNA-dependent; viral reproduction | Xq26.3 |
| ZNF76 | regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase III promoter | 6p21.31 |
| ZNF761 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF763 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF764 | regulation of transcription, DNA-dependent | 16p11.2 |
| ZNF765 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF766 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF767P | - | 7q36.1 |
| ZNF77 | regulation of transcription, DNA-dependent | 19p13.3 |
| ZNF770 | regulation of transcription, DNA-dependent | 15q14 |
| ZNF771 | regulation of transcription, DNA-dependent | 16p11.2 |
| ZNF772 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF773 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF774 | regulation of transcription, DNA-dependent | 15q26.1 |
| ZNF775 | regulation of transcription, DNA-dependent | 7q36.1 |
| ZNF776 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF777 | regulation of transcription, DNA-dependent | 7q36.1 |
| ZNF778 | regulation of transcription, DNA-dependent | 16q24.3 |
| ZNF780A | regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF780B | regulation of transcription, DNA-dependent | 19q13.2 |
| ZNF781 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF782 | regulation of transcription, DNA-dependent | 9q22.33 |
| ZNF783 | - | 7q36.1 |
| ZNF784 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF785 | regulation of transcription, DNA-dependent | 16p11.2 |
| ZNF786 | regulation of transcription, DNA-dependent | 7q36.1 |
| ZNF787 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF788 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF789 | regulation of transcription, DNA-dependent | 7q22.1 |
| ZNF79 | regulation of transcription, DNA-dependent | 9q34 |
| ZNF790 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF790-AS1 | - | 19q13.13 |
| ZNF791 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF792 | regulation of transcription, DNA-dependent | 19q13.11 |
| ZNF793 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF799 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF8 | BMP signaling pathway; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 19q13.43 |
| ZNF80 | regulation of transcription, DNA-dependent | 3q13.3 |
| ZNF800 | regulation of transcription, DNA-dependent | 7q31.33 |
| ZNF804A | - | 2q32.1 |
| ZNF805 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF806 | regulation of transcription, DNA-dependent | 2q21.2 |
| ZNF808 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF81 | regulation of transcription, DNA-dependent | Xp11.23 |
| ZNF812 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF813 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF814 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF815P | - | 7p22.1 |
| ZNF816-ZNF321P | - | 19q |
| ZNF818P | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF821 | regulation of transcription, DNA-dependent | 16q22.2 |
| ZNF823 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF826P | regulation of transcription, DNA-dependent | 19p12 |
| ZNF827 | regulation of transcription, DNA-dependent | 4q31.22 |
| ZNF829 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF83 | regulation of transcription, DNA-dependent | 19q13.3 |
| ZNF830 | cell cycle; cell division; blastocyst growth; multicellular organismal development; mitosis | 17q12 |
| ZNF831 | - | 20q13.32 |
| ZNF833P | - | 19p13.2 |
| ZNF835 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF836 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF837 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZNF839 | - | 14q32.31 |
| ZNF84 | regulation of transcription, DNA-dependent | 12q24.33 |
| ZNF841 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF844 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF845 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF849P | - | 19p12 |
| ZNF85 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF850 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF852 | - | 3p21.31 |
| ZNF853 | - | 7p22.1 |
| ZNF859P | - | 1p33 |
| ZNF860 | regulation of transcription, DNA-dependent | 3p23 |
| ZNF861P | - | 19p13.12 |
| ZNF862 | regulation of transcription, DNA-dependent | 7q36.1 |
| ZNF865 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF876P | regulation of transcription, DNA-dependent | 4p16.3 |
| ZNF878 | regulation of transcription, DNA-dependent | 19p13.2 |
| ZNF879 | regulation of transcription, DNA-dependent | 5q35.3 |
| ZNF880 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF883 | regulation of transcription, DNA-dependent | 9q32 |
| ZNF888 | regulation of transcription, DNA-dependent | 19q13.41 |
| ZNF891 | regulation of transcription, DNA-dependent | 12q24.33 |
| ZNF90 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF90P1 | - | 3q13 |
| ZNF91 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF92 | regulation of transcription, DNA-dependent | 7q11.21 |
| ZNF93 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF962P | - | 13q11 |
| ZNF965P | - | 13q11 |
| ZNF969P | - | 4q25 |
| ZNF98 | regulation of transcription, DNA-dependent | 19p12 |
| ZNF99 | regulation of transcription, DNA-dependent | 19p12 |
| ZNFX1 | - | 20q13.13 |
| ZNHIT1 | - | 7q22.1 |
| ZNHIT1P1 | - | 8q24.3 |
| ZNHIT2 | - | 11q13 |
| ZNHIT3 | regulation of transcription, DNA-dependent | 17q12 |
| ZNHIT6 | ribosome biogenesis; box C/D snoRNP assembly | 1p22.3 |
| ZNRD1 | nucleobase-containing compound metabolic process | 6p21.3 |
| ZNRD1-AS1 | - | 6p22.1 |
| ZNRF1 | proteasomal ubiquitin-dependent protein catabolic process; protein K48-linked ubiquitination | 16q23.1 |
| ZNRF2 | - | 7p14.3 |
| ZNRF2P1 | - | 7p14.3 |
| ZNRF3 | - | 22q12.1 |
| ZNRF3-AS1 | - | - |
| ZP1 | single fertilization | 11q12.2 |
| ZP2 | regulation of acrosome reaction; intracellular protein transport; manganese ion transport; single fertilization; binding of sperm to zona pellucida | 16p12 |
| ZP3 | negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; phosphatidylinositol-mediated signaling; intracellular signal transduction; oocyte development; positive regulation of protein kinase activity; positive regulation of T cell proliferation; egg coat formation; humoral immune response mediated by circulating immunoglobulin; positive regulation of inflammatory response; positive regulation of protein kinase B signaling cascade; protein kinase C signaling cascade; manganese ion transmembrane transport; positive regulation of calcium ion import; positive regulation of acrosome reaction; negative regulation of binding of sperm to zona pellucida; positive regulation of antral ovarian follicle growth; positive regulation of ovarian follicle development; manganese ion transport; blastocyst formation; positive regulation of leukocyte migration; positive regulation of humoral immune response; positive regulation of type IV hypersensitivity; positive regulation of ac | 7q11.23 |
| ZP4 | protein kinase C signaling cascade; positive regulation of acrosome reaction; negative regulation of binding of sperm to zona pellucida; single fertilization; acrosomal vesicle exocytosis; positive regulation of protein kinase activity; positive regulation of T cell proliferation; intracellular signal transduction; protein kinase A signaling cascade; positive regulation of humoral immune response | 1q43 |
| ZPBP | binding of sperm to zona pellucida | 7p14.3 |
| ZPBP2 | binding of sperm to zona pellucida | 17q12 |
| ZPLD1 | - | 3q12.3 |
| ZPR1 | signal transduction; cell proliferation | 11q23.3 |
| ZRANB1 | protein deubiquitination involved in ubiquitin-dependent protein catabolic process; protein K63-linked deubiquitination; positive regulation of Wnt receptor signaling pathway; regulation of cell morphogenesis; cell migration; cytoskeleton organization; proteolysis | 10q26.13 |
| ZRANB2 | regulation of transcription, DNA-dependent; mRNA processing; RNA splicing | 1p31 |
| ZRANB2-AS1 | - | 1p31.1 |
| ZRANB2-AS2 | - | 1p31.1 |
| ZRANB3 | - | 2q21.3 |
| ZRSR1 | - | 5q22.2 |
| ZRSR2 | spliceosome assembly; nuclear mRNA splicing, via spliceosome; RNA splicing | Xp22.1 |
| ZSCAN1 | viral reproduction | 19q13.43 |
| ZSCAN10 | negative regulation of transcription, DNA-dependent; viral reproduction | 16p13.3 |
| ZSCAN12 | viral reproduction | 6p21 |
| ZSCAN12P1 | - | 6p22.1 |
| ZSCAN16 | viral reproduction | 6p22.1 |
| ZSCAN16-AS1 | - | 6p22.1 |
| ZSCAN18 | viral reproduction | 19q13.43 |
| ZSCAN2 | multicellular organismal development; spermatogenesis; viral reproduction; cell differentiation | 15q25.2 |
| ZSCAN20 | viral reproduction | 1p34.3 |
| ZSCAN21 | viral reproduction; positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 7q22.1 |
| ZSCAN22 | viral reproduction | 19q13.43 |
| ZSCAN23 | viral reproduction | 6p22.1 |
| ZSCAN25 | - | 7q22.1 |
| ZSCAN26 | - | 6p21.31 |
| ZSCAN29 | viral reproduction | 15q15.3 |
| ZSCAN30 | viral reproduction | 18q12.2 |
| ZSCAN31 | - | 6p21.31|6p22.3-p22.1 |
| ZSCAN32 | - | 16p13.3 |
| ZSCAN4 | viral reproduction; telomere maintenance via telomere lengthening | 19q13.43 |
| ZSCAN5A | viral reproduction | 19q13.43 |
| ZSCAN5B | viral reproduction | 19q13.43 |
| ZSCAN5C | viral reproduction | 19q13.43 |
| ZSCAN9 | - | 6p21.3 |
| ZSWIM1 | - | 20q13.12 |
| ZSWIM2 | protein polyubiquitination; regulation of apoptotic process | 2q32.1 |
| ZSWIM3 | - | 20q13.12 |
| ZSWIM4 | - | 19p13.13 |
| ZSWIM5 | - | 1p34.1 |
| ZSWIM6 | - | 5q12.1 |
| ZSWIM7 | double-strand break repair via homologous recombination; DNA repair; DNA recombination; protein stabilization | 17p12 |
| ZSWIM8 | - | 10q22.2 |
| ZSWIM8-AS1 | - | - |
| ZUFSP | - | 6q22.1 |
| ZW10 | meiosis; cell division; protein localization to kinetochore; vesicle-mediated transport; protein transport; regulation of exit from mitosis; mitotic cell cycle checkpoint; mitotic metaphase plate congression; ER to Golgi vesicle-mediated transport; protein complex assembly; mitotic cell cycle; mitotic prometaphase; establishment of mitotic spindle orientation; M phase of mitotic cell cycle; mitotic sister chromatid segregation | 11q23.2 |
| ZWILCH | mitotic cell cycle; mitotic cell cycle checkpoint; mitotic prometaphase; cell division; M phase of mitotic cell cycle | 15q22.31 |
| ZWINT | mitotic cell cycle; M phase of mitotic cell cycle; mitotic sister chromatid segregation; mitotic prometaphase; cell cycle; phosphatidylinositol-mediated signaling; spindle organization; establishment of localization in cell; cell division; mitotic cell cycle checkpoint | 10q21-q22 |
| ZXDA | positive regulation of transcription, DNA-dependent | Xp11.1 |
| ZXDB | regulation of transcription, DNA-dependent | Xp11.21 |
| ZXDC | positive regulation of transcription, DNA-dependent | 3q21.3 |
| ZYG11A | - | 1p32.3 |
| ZYG11B | - | 1p32.3 |
| ZYX | cell adhesion; signal transduction; cell-cell signaling; interspecies interaction between organisms | 7q32 |
| ZZEF1 | - | 17p13.2 |
| ZZZ3 | regulation of transcription, DNA-dependent | 1p31.1 |