| Name | Annotations | Location |
| A1BG | - | 19q13.4 |
| A1BG-AS1 | - | 19q13.4 |
| A1CF | mRNA processing; gene expression; cytidine to uridine editing; mRNA modification; protein stabilization | 10q11.23 |
| A2M | platelet degranulation; negative regulation of complement activation, lectin pathway; regulation of small GTPase mediated signal transduction; stem cell differentiation; platelet activation; blood coagulation, intrinsic pathway; blood coagulation; small GTPase mediated signal transduction | 12p13.31 |
| A2M-AS1 | - | 12p13.31 |
| A2ML1 | regulation of endopeptidase activity; negative regulation of peptidase activity | 12p13.31 |
| A2MP1 | - | 12p13.31 |
| A4GALT | lipid biosynthetic process; plasma membrane organization; glycosphingolipid biosynthetic process | 22q13.2 |
| A4GNT | glycoprotein biosynthetic process; carbohydrate metabolic process; protein O-linked glycosylation | 3p14.3 |
| AAAS | transmembrane transport; carbohydrate metabolic process; nucleocytoplasmic transport; learning; hexose transport; fertilization; regulation of glucose transport; glucose transport; viral reproduction; cytokine-mediated signaling pathway; small molecule metabolic process; regulation of nucleocytoplasmic transport | 12q13 |
| AACS | liver development; cellular response to cholesterol; 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; positive regulation of insulin secretion; response to purine-containing compound; response to organic nitrogen; response to nutrient; fatty acid metabolic process; lipid metabolic process | 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 stabilization; regulation of clathrin-mediated endocytosis; regulation of protein localization; protein autophosphorylation; positive regulation of Notch signaling pathway; protein phosphorylation; endocytosis | 2p14 |
| AAMDC | - | 11q14.1 |
| AAMP | cell differentiation; smooth muscle cell migration; positive regulation of endothelial cell migration; multicellular organismal development; angiogenesis | 2q35 |
| AANAT | response to zinc ion; response to organic cyclic compound; melatonin biosynthetic process; response to insulin stimulus; response to cytokine stimulus; cellular nitrogen compound metabolic process; response to prostaglandin E stimulus; small molecule metabolic process; indolalkylamine biosynthetic process; response to copper ion; response to corticosterone stimulus; response to cAMP; response to calcium ion; response to light stimulus; circadian rhythm | 17q25 |
| AAR2 | - | 20pter-q12 |
| AARD | lung development | 8q24.11 |
| AARS | tRNA modification; neuromuscular process controlling balance; skin development; negative regulation of neuron apoptosis; response to amino acid stimulus; endoplasmic reticulum unfolded protein response; cerebellar Purkinje cell layer development; gene expression; tRNA processing; protein folding; alanyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; hair follicle development | 16q22 |
| AARS2 | tRNA aminoacylation for protein translation; alanyl-tRNA aminoacylation; gene expression | 6p21.1 |
| AARSD1 | translation; alanyl-tRNA aminoacylation; tRNA aminoacylation | 17q21.31 |
| AASDH | lipid metabolic process; fatty acid metabolic process | 4q12 |
| AASDHPPT | macromolecule biosynthetic process; pantothenate metabolic process; small molecule metabolic process; water-soluble vitamin metabolic process; vitamin metabolic process | 11q22 |
| AASS | cellular nitrogen compound metabolic process; protein tetramerization; small molecule metabolic process; lysine catabolic process; L-lysine catabolic process | 7q31.3 |
| AATBC | - | 21q22.3 |
| AATF | negative regulation of superoxide anion generation; cell adhesion; negative regulation of reactive oxygen species metabolic process; nerve growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; negative regulation of amyloid precursor protein biosynthetic process; ribosome biogenesis; embryonic cleavage; response to DNA damage stimulus; anti-apoptosis; induction of apoptosis by extracellular signals; regulation of mitotic cell cycle; apoptotic process | 17q12 |
| AATK | apoptotic process; protein autophosphorylation | 17q25.3 |
| AATK-AS1 | - | 17q25.3 |
| ABALON | - | 20q11.21 |
| ABAT | locomotory behavior; behavioral response to cocaine; negative regulation of blood pressure; response to ethanol; response to drug; neurotransmitter catabolic process; response to nicotine; response to iron ion; gamma-aminobutyric acid catabolic process; copulation; behavior; neurotransmitter secretion; response to hypoxia; synaptic transmission | 16p13.2 |
| ABCA1 | negative regulation of cholesterol storage; phospholipid efflux; endosome transport; positive regulation of cAMP biosynthetic process; intracellular cholesterol transport; Cdc42 protein signal transduction; cholesterol efflux; high-density lipoprotein particle assembly; response to laminar fluid shear stress; apolipoprotein A-I-mediated signaling pathway; lipoprotein metabolic process; cholesterol homeostasis; reverse cholesterol transport; cellular lipid metabolic process; small molecule metabolic process; phospholipid translocation; interleukin-1 beta secretion; phospholipid homeostasis; response to low-density lipoprotein particle stimulus; platelet dense granule organization; cellular response to lipopolysaccharide; cellular response to retinoic acid; transport; positive regulation of cholesterol efflux; peptide secretion; protein lipidation; lipid metabolic process; anion transport; phagocytosis, engulfment; lysosome organization; G-protein coupled receptor signaling pathway; steroid metabolic process; c | 9q31.1 |
| ABCA10 | transport | 17q24 |
| ABCA11P | - | 4p16.3 |
| ABCA12 | cellular homeostasis; transport; lipid transport | 2q34 |
| ABCA13 | transport | 7p12.3 |
| ABCA17P | - | 16p13.3 |
| ABCA2 | regulation of transcription from RNA polymerase II promoter; ATP catabolic process; lipid metabolic process; transport; regulation of intracellular cholesterol transport; response to drug; cholesterol homeostasis; response to steroid hormone stimulus | 9q34 |
| ABCA3 | transport; response to drug; transmembrane transport | 16p13.3 |
| ABCA4 | visual perception; phospholipid transfer to membrane; transport; phototransduction, visible light; photoreceptor cell maintenance; response to stimulus; transmembrane transport | 1p22 |
| ABCA5 | reverse cholesterol transport; transport; high-density lipoprotein particle remodeling; negative regulation of macrophage derived foam cell differentiation; cholesterol efflux | 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; G2/M transition of mitotic cell cycle; transport; response to drug; transmembrane transport | 7q21.12 |
| ABCB10 | transmembrane transport; transport | 1q42.13 |
| ABCB10P3 | - | 15q13.1 |
| ABCB10P4 | - | 15q13.1 |
| ABCB11 | canalicular bile acid transport; transport; bile acid biosynthetic process; small molecule metabolic process; transmembrane transport; bile acid metabolic process; bile acid and bile salt transport | 2q24 |
| ABCB4 | response to drug; cellular lipid metabolic process; transport; lipid metabolic process; small molecule metabolic process; response to glucocorticoid stimulus; transmembrane transport | 7q21.1 |
| ABCB5 | regulation of membrane potential; transmembrane transport | 7p21.1 |
| ABCB6 | cellular iron ion homeostasis; heme transport; cadmium ion transmembrane transport; transmembrane transport; transport; detoxification of cadmium ion; porphyrin-containing compound biosynthetic process | 2q36 |
| ABCB7 | transport; cellular iron ion homeostasis; heme transport; transmembrane transport | Xq13.3 |
| ABCB8 | transmembrane transport; transport | 7q36 |
| ABCB9 | positive regulation of T cell mediated cytotoxicity; transmembrane transport; peptide transport; protein transport; antigen processing and presentation of peptide antigen via MHC class I | 12q24 |
| ABCC1 | ATP catabolic process; prostanoid metabolic process; transport; leukotriene biosynthetic process; response to drug; small molecule metabolic process; transmembrane transport | 16p13.1 |
| ABCC10 | transmembrane transport | 6p21.1 |
| ABCC11 | transmembrane transport | 16q12.1 |
| ABCC12 | transmembrane transport | 16q12.1 |
| ABCC13 | transmembrane transport | 21q11.2 |
| ABCC2 | transport; transmembrane transport; organic anion transport | 10q24 |
| ABCC3 | transport; transmembrane transport; small molecule metabolic process; bile acid and bile salt transport; bile acid metabolic process; organic anion transport | 17q22 |
| ABCC4 | transmembrane transport; platelet degranulation; ion transport; blood coagulation; platelet activation | 13q32 |
| ABCC5 | transmembrane transport; response to insulin stimulus; response to lipopolysaccharide; transport; organic anion transport | 3q27 |
| ABCC5-AS1 | - | - |
| ABCC6 | transmembrane transport; response to stimulus; response to drug; visual perception; transport | 16p13.1 |
| ABCC6P1 | - | 16p12.3 |
| ABCC8 | potassium ion transport; synaptic transmission; response to pH; response to zinc ion; response to lipopolysaccharide; response to insulin stimulus; response to drug; positive regulation of potassium ion transport; carbohydrate metabolic process; energy reserve metabolic process; small molecule metabolic process; potassium ion transmembrane transport; transmembrane transport; regulation of insulin secretion; negative regulation of insulin secretion | 11p15.1 |
| ABCC9 | potassium ion import; transmembrane transport; defense response to virus; synaptic transmission; potassium ion transport | 12p12.1 |
| ABCD1 | transmembrane transport; small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; ATP catabolic process; peroxisome organization; peroxisomal membrane transport; peroxisomal long-chain fatty acid import | Xq28 |
| ABCD1P2 | - | 10p11 |
| ABCD1P3 | - | 16p11 |
| ABCD1P4 | - | 22q11 |
| ABCD1P5 | - | 2p11.1 |
| ABCD2 | transmembrane transport; very long-chain fatty acid metabolic process; positive regulation of fatty acid beta-oxidation | 12q12 |
| ABCD3 | transmembrane transport; response to drug; ATP catabolic process | 1p21.3 |
| ABCD4 | transmembrane transport | 14q24.3 |
| ABCE1 | interspecies interaction between organisms; RNA catabolic process; response to virus | 4q31 |
| ABCF1 | translational initiation; translation; positive regulation of translation; ribosome biogenesis; inflammatory response | 6p21.33 |
| ABCF2 | transport | 7q36 |
| ABCF2P1 | - | 3p11.1 |
| ABCF2P2 | - | - |
| ABCF3 | - | 3q27.1 |
| ABCG1 | regulation of transcription, DNA-dependent; reverse cholesterol transport; amyloid precursor protein catabolic process; cholesterol homeostasis; positive regulation of cholesterol biosynthetic process; lipoprotein metabolic process; response to high density lipoprotein particle stimulus; phospholipid homeostasis; detection of hormone stimulus; cholesterol metabolic process; lipid metabolic process; transmembrane transport; small molecule metabolic process; glycoprotein transport; regulation of cholesterol esterification; high-density lipoprotein particle remodeling; low-density lipoprotein particle remodeling; response to lipid; phospholipid efflux; positive regulation of cholesterol efflux; cholesterol efflux; response to organic substance; negative regulation of macrophage derived foam cell differentiation; intracellular cholesterol transport; phospholipid transport; negative regulation of cholesterol storage | 21q22.3 |
| ABCG2 | urate metabolic process; heme transport; cellular iron ion homeostasis; transport; transmembrane transport; response to drug | 4q22 |
| ABCG4 | cholesterol efflux; transmembrane transport | 11q23.3 |
| ABCG5 | response to ionizing radiation; cholesterol efflux; intestinal cholesterol absorption; response to drug; cholesterol homeostasis; small molecule metabolic process; sterol transport; negative regulation of intestinal phytosterol absorption; excretion; response to nutrient; negative regulation of intestinal cholesterol absorption; transmembrane transport; lipid metabolic process; ATP catabolic process | 2p21 |
| ABCG8 | small molecule metabolic process; cholesterol homeostasis; phospholipid transport; negative regulation of intestinal phytosterol absorption; excretion; lipid metabolic process; ATP catabolic process; sterol transport; intestinal cholesterol absorption; cholesterol efflux; negative regulation of intestinal cholesterol absorption; transmembrane transport | 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 | 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; phospholipid biosynthetic process; phosphatidic acid biosynthetic process; fatty acid metabolic process; lipid metabolic process | 3p21 |
| ABHD6 | regulation of endocannabinoid signaling pathway; long term synaptic depression; negative regulation of cell migration | 3p14.3 |
| ABHD8 | - | 19p13.11 |
| ABI1 | peptidyl-tyrosine phosphorylation; actin polymerization or depolymerization; somitogenesis; cellular component movement; transmembrane receptor protein tyrosine kinase signaling pathway; negative regulation of cell proliferation | 10p11.2 |
| ABI2 | peptidyl-tyrosine phosphorylation; cell migration; actin polymerization or depolymerization; cytoskeleton organization; cellular component movement | 2q33 |
| ABI3 | regulation of cell migration; peptidyl-tyrosine phosphorylation; cellular component movement | 17q21.3 |
| ABI3BP | extracellular matrix organization; positive regulation of cell-substrate adhesion | 3q12 |
| ABL1 | DNA damage response, signal transduction resulting in induction of apoptosis; axon guidance; DNA damage induced protein phosphorylation; protein modification process; regulation of transcription, DNA-dependent; mismatch repair; regulation of transcription involved in S phase of mitotic cell cycle; blood coagulation; 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 | 9q34.1 |
| ABL2 | axon guidance; regulation of actin cytoskeleton reorganization; regulation of cell motility; cellular response to retinoic acid; positive regulation of oxidoreductase activity; regulation of cell adhesion; regulation of endocytosis; peptidyl-tyrosine phosphorylation; positive regulation of neuron projection development; regulation of autophagy; signal transduction; protein phosphorylation; protein modification process | 1q25.2 |
| ABLIM1 | positive regulation of transcription from RNA polymerase II promoter; cytoskeleton organization; organ morphogenesis; visual perception; axon guidance | 10q25 |
| ABLIM2 | axon guidance; cytoskeleton organization | 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 | regulation of Rho protein signal transduction; inner ear morphogenesis; response to lipopolysaccharide; negative regulation of cell migration; actin cytoskeleton organization; induction of apoptosis by extracellular signals; brain development; small GTPase mediated signal transduction; apoptotic process; regulation of small GTPase mediated signal transduction; neuromuscular process controlling balance; positive regulation of phagocytosis; negative regulation of inflammatory response; nerve growth factor receptor signaling pathway; positive regulation of GTPase activity; negative regulation of neutrophil degranulation | 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 | acetyl-CoA metabolic process; anti-apoptosis; cholesterol biosynthetic process; fatty acid beta-oxidation; fatty acid metabolic process; lipid metabolic process | 18q21.1 |
| ACACA | lipid homeostasis; tissue homeostasis; acetyl-CoA metabolic process; energy reserve metabolic process; fatty acid biosynthetic process; response to organic cyclic compound; triglyceride biosynthetic process; positive regulation of cellular metabolic process; long-chain fatty-acyl-CoA biosynthetic process; protein homotetramerization; small molecule metabolic process; multicellular organismal protein metabolic process; cellular lipid metabolic process; response to drug | 17q21 |
| ACACB | fatty acid biosynthetic process; acetyl-CoA metabolic process; protein homotetramerization; regulation of fatty acid oxidation; small molecule metabolic process; cellular lipid metabolic process; positive regulation of cellular metabolic process; carnitine shuttle; energy reserve 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 | small molecule metabolic process; oxidation-reduction process; regulation of cholesterol metabolic process; protein homotetramerization; negative regulation of fatty acid oxidation; negative regulation of fatty acid biosynthetic process; cellular lipid metabolic process; cellular lipid catabolic process; long-chain fatty acid catabolic process; carnitine catabolic process; fatty acid beta-oxidation using acyl-CoA dehydrogenase; carnitine metabolic process, CoA-linked; fatty acid beta-oxidation; fatty acid metabolic process; temperature homeostasis | 2q34 |
| ACADM | carnitine metabolic process, CoA-linked; fatty acid beta-oxidation; fatty acid beta-oxidation using acyl-CoA dehydrogenase; cellular lipid metabolic process; small molecule metabolic process; carnitine biosynthetic process; medium-chain fatty acid metabolic process; medium-chain fatty acid catabolic process; oxidation-reduction process | 1p31 |
| ACADS | small molecule metabolic process; butyrate catabolic process; cellular lipid metabolic process; protein homotetramerization; response to starvation; fatty acid beta-oxidation using acyl-CoA dehydrogenase; fatty acid beta-oxidation; fatty acid metabolic process; response to glucocorticoid stimulus | 12q24.31 |
| ACADSB | small molecule metabolic process; cellular nitrogen compound metabolic process; branched chain family amino acid catabolic process; acyl-CoA metabolic process; fatty acid metabolic process; lipid metabolic process | 10q26.13 |
| ACADVL | negative regulation of fatty acid oxidation; regulation of cholesterol metabolic process; 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 beta-oxidation; fatty acid metabolic process; temperature homeostasis | 17p13.1 |
| ACAN | skeletal system development; proteolysis; cell adhesion | 15q26.1 |
| ACAP1 | lipid metabolic process; intracellular signal transduction; regulation of ARF GTPase activity; protein transport | 17p13.1 |
| ACAP2 | regulation of ARF GTPase activity | 3q29 |
| ACAP2-IT1 | - | - |
| ACAP3 | filopodium assembly; regulation of ARF GTPase activity; signal transduction | - |
| ACAT1 | ketone body biosynthetic process; branched chain family amino acid catabolic process; small molecule metabolic process; cellular ketone body metabolic process; ketone body catabolic process; cellular lipid metabolic process; response to starvation; cellular nitrogen compound metabolic process; response to organic cyclic compound; response to hormone stimulus; protein homooligomerization; adipose tissue development; metanephric proximal convoluted tubule development; brain development; liver development | 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 | negative regulation of telomere maintenance via telomerase; protein localization to chromosome, telomeric region; positive regulation of single-stranded telomeric DNA binding; positive regulation of telomerase activity; segmentation; telomere assembly; protection from non-homologous end joining at telomere; telomere capping; embryonic limb morphogenesis; intracellular protein transport; urogenital system development; skeletal system development; telomere maintenance | 16q22.1 |
| ACE | regulation of systemic arterial blood pressure by renin-angiotensin; proteolysis; sensory perception of pain; regulation of vasodilation; neutrophil mediated immunity; regulation of renal output by angiotensin; angiotensin catabolic process in blood; blood vessel remodeling; kidney development; response to hypoxia; mononuclear cell proliferation; hormone catabolic process; regulation of smooth muscle cell migration; response to nutrient levels; response to lipopolysaccharide; regulation of blood pressure; hemopoietic stem cell differentiation; heart contraction; positive regulation of neurogenesis; positive regulation of inflammatory response; arachidonic acid secretion; regulation of vasoconstriction; peptide catabolic process; positive regulation of apoptotic process; eating behavior | 17q23.3 |
| ACE2 | proteolysis; regulation of systemic arterial blood pressure by renin-angiotensin; angiotensin-mediated drinking behavior; regulation of cytokine production; response to virus; regulation of vasoconstriction; receptor biosynthetic process; regulation of cell proliferation; regulation of vasodilation; angiotensin catabolic process in blood; 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 | small molecule metabolic process; sphingolipid biosynthetic process; regulation of lipid metabolic process; sphingolipid metabolic process; ceramide catabolic process | 19p13.3 |
| ACER2 | negative regulation of protein glycosylation in Golgi; sphingosine biosynthetic process; small molecule metabolic process; negative regulation of cell adhesion mediated by integrin; response to retinoic acid; sphingolipid biosynthetic process; positive regulation of cell proliferation; ceramide metabolic process; sphingolipid metabolic process; lipid metabolic process; negative regulation of cell-matrix adhesion | 9p22.1 |
| ACER3 | sphingolipid metabolic process; ceramide metabolic process; positive regulation of cell proliferation; sphingolipid biosynthetic process; small molecule metabolic process; phytosphingosine biosynthetic process; sphingosine biosynthetic process | 11q13.5 |
| ACHE | receptor internalization; cell adhesion; synaptic transmission; positive regulation of protein secretion; regulation of dendrite morphogenesis; neurotransmitter receptor biosynthetic process; amyloid precursor protein metabolic process; neurotransmitter biosynthetic process; negative regulation of synaptic transmission, cholinergic; acetylcholine catabolic process; choline metabolic process; response to wounding; cell proliferation; muscle organ development; synapse assembly; nervous system development; synaptic transmission, cholinergic; DNA replication; osteoblast development; regulation of receptor recycling; acetylcholine catabolic process in synaptic cleft; regulation of axonogenesis; protein tetramerization; retina development in camera-type eye | 7q22 |
| ACIN1 | erythrocyte differentiation; ATP catabolic process; apoptotic process; apoptotic chromosome condensation; cellular component disassembly involved in apoptosis; positive regulation of monocyte differentiation | 14q11.2 |
| ACKR1 | defense response; G-protein coupled receptor signaling pathway | 1q21-q22 |
| ACKR2 | - | 3p21.3 |
| ACKR3 | - | 2q37.3 |
| ACKR4 | - | 3q22 |
| ACLY | energy reserve metabolic process; ATP catabolic process; lipid biosynthetic process; positive regulation of cellular metabolic process; triglyceride biosynthetic process; coenzyme A metabolic process; citrate metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; cellular carbohydrate metabolic process; small molecule metabolic process | 17q21.2 |
| ACMSD | small molecule metabolic process; cellular nitrogen compound metabolic process; tryptophan catabolic process; quinolinate metabolic process | 2q21.3 |
| ACO1 | regulation of translation; intestinal absorption; regulation of gene expression; response to iron(II) ion; post-embryonic development; metabolic process; cellular iron ion homeostasis; citrate metabolic process; tricarboxylic acid cycle | 9p21.1 |
| ACO2 | generation of precursor metabolites and energy; small molecule metabolic process; isocitrate metabolic process; citrate metabolic process; tricarboxylic acid cycle | 22q13.2 |
| ACOT1 | lipid metabolic process; acyl-CoA metabolic process; long-chain fatty acid metabolic process; very long-chain fatty acid metabolic process | 14q24.3 |
| ACOT11 | fatty acid metabolic process; response to temperature stimulus; response to cold; intracellular signal transduction | 1p32.3 |
| ACOT12 | acetyl-CoA metabolic process; lipid metabolic process; fatty acid metabolic process; acyl-CoA metabolic process | 5q14.1 |
| ACOT13 | protein homotetramerization | 6p22.3 |
| ACOT2 | long-chain fatty acid metabolic process; lipid metabolic process; acyl-CoA metabolic process; very long-chain fatty acid metabolic process | 14q24.3 |
| ACOT4 | short-chain fatty acid metabolic process; very long-chain fatty acid metabolic process; long-chain fatty acid metabolic process; succinyl-CoA metabolic process; lipid metabolic process; acyl-CoA metabolic process; butyrate metabolic process; saturated monocarboxylic acid metabolic process; unsaturated monocarboxylic acid metabolic process; dicarboxylic acid metabolic process | 14q24.3 |
| ACOT6 | - | 14q24.3 |
| ACOT7 | lipid metabolic process | 1p36 |
| ACOT8 | bile acid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; cellular lipid metabolic process; small molecule metabolic process; peroxisome organization; interspecies interaction between organisms; bile acid biosynthetic process; acyl-CoA metabolic process | 20q13.12 |
| ACOT9 | acyl-CoA metabolic process | Xp22.11 |
| ACOX1 | very long-chain fatty acid metabolic process; generation of precursor metabolites and energy; lipid metabolic process; prostaglandin metabolic process; spermatogenesis; fatty acid oxidation; fatty acid beta-oxidation using acyl-CoA oxidase; cellular lipid metabolic process; small molecule metabolic process | 17q25.1 |
| ACOX2 | 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 | 3p14.3 |
| ACOX3 | fatty acid metabolic process; small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase | 4p15.3 |
| ACOXL | fatty acid beta-oxidation | 2q13 |
| ACP1 | - | 2p25 |
| ACP2 | skeletal system development; autophagic cell death; dephosphorylation; response to organic substance; lysosome organization | 11p11.2|11p12-p11 |
| ACP5 | bone resorption; dephosphorylation; response to lipopolysaccharide; negative regulation of interleukin-1 beta production; negative regulation of interleukin-12 production; negative regulation of tumor necrosis factor production; negative regulation of superoxide anion generation; response to cytokine stimulus; small molecule metabolic process; negative regulation of nitric oxide biosynthetic process; negative regulation of inflammatory response; defense response to Gram-positive bacterium; bone morphogenesis; riboflavin metabolic process; water-soluble vitamin metabolic process; vitamin metabolic process | 19p13.2 |
| ACP6 | lipid metabolic process | 1q21 |
| ACP7 | - | 19q13.2 |
| ACPP | - | 3q22.1 |
| ACPT | - | 19q13.4 |
| ACR | response to biotic stimulus; activation of adenylate cyclase activity; penetration of zona pellucida; acrosome reaction; single fertilization; acrosome matrix dispersal; proteolysis; response to steroid hormone stimulus | 22q13.33 |
| ACRBP | - | 12p13.31 |
| ACRC | - | Xq13.1 |
| ACSBG1 | lipid metabolic process; myelination; response to glucocorticoid stimulus; long-chain fatty acid metabolic process; ovarian follicle atresia; very long-chain fatty acid metabolic process | 15q23-q24 |
| ACSBG2 | fatty acid metabolic process; multicellular organismal development; spermatogenesis; lipid metabolic process; cell differentiation | 19p13.3 |
| ACSF2 | fatty acid metabolic process; lipid metabolic process | 17q21.33 |
| ACSF3 | lipid metabolic process; fatty acid metabolic process; fatty acid biosynthetic process; malonate catabolic process | 16q24.3 |
| ACSL1 | small molecule metabolic process; cellular lipid metabolic process; regulation of fatty acid oxidation; long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process; fatty acid metabolic process | 4q35 |
| ACSL3 | small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; fatty acid biosynthetic process; brain development; response to nutrient; response to organic cyclic compound; triglyceride biosynthetic process | 2q34-q35 |
| ACSL4 | lipid metabolic process; positive regulation of cell growth; long-chain fatty-acyl-CoA biosynthetic process; cellular lipid metabolic process; small molecule metabolic process; embryonic process involved in female pregnancy; dendritic spine development; triglyceride biosynthetic process; response to nutrient; fatty acid metabolic process; response to interleukin-15 | Xq22.3-q23 |
| ACSL5 | long-chain fatty-acyl-CoA biosynthetic process; response to cholesterol; small molecule metabolic process; positive regulation of triglyceride biosynthetic process; fatty acid metabolic process; cellular lipid metabolic process; fatty acid transport; triglyceride biosynthetic process; cellular response to insulin stimulus; response to nutrient; positive regulation of plasma membrane long-chain fatty acid transport; response to glucose stimulus; response to sucrose stimulus | 10q25.1-q25.2 |
| ACSL6 | fatty acid metabolic process; acyl-CoA metabolic process; neuroblast proliferation; triglyceride biosynthetic process; long-chain fatty-acyl-CoA biosynthetic process; cellular lipid metabolic process; small molecule metabolic process | 5q31 |
| ACSM1 | fatty acid oxidation; xenobiotic metabolic process; fatty acid biosynthetic process; butyrate metabolic process; small molecule metabolic process; benzoate metabolic process; energy derivation by oxidation of organic compounds; lipid metabolic process | 16p12.3 |
| ACSM2B | lipid metabolic process; small molecule metabolic process; xenobiotic metabolic process; fatty acid metabolic process | 16p12.3 |
| ACSM3 | regulation of blood pressure; fatty acid biosynthetic process; lipid metabolic process | 16p13.11 |
| ACSM5 | lipid metabolic process; fatty acid metabolic process | 16p12.3 |
| ACSM6 | fatty acid metabolic process; lipid metabolic process | 10q23.33 |
| ACSS1 | acetyl-CoA biosynthetic process; ethanol oxidation; propionate biosynthetic process; acetate biosynthetic process; small molecule metabolic process; xenobiotic metabolic process | 20p11.23-p11.21 |
| ACSS2 | acetyl-CoA biosynthetic process; small molecule metabolic process; lipid biosynthetic process; xenobiotic metabolic process; ethanol oxidation | 20q11.22 |
| ACSS3 | - | 12q21.31 |
| ACTA1 | muscle contraction; skeletal muscle fiber development; skeletal muscle thin filament assembly; response to steroid hormone stimulus; response to mechanical stimulus; response to extracellular stimulus; response to lithium ion; cell growth; muscle filament sliding; skeletal muscle fiber adaptation | 1q42.13 |
| ACTA2 | glomerular mesangial cell development; vascular smooth muscle contraction; response to virus; regulation of blood pressure; muscle contraction | 10q23.3 |
| ACTA2-AS1 | - | 10q23.31 |
| ACTB | response to calcium ion; 'de novo' posttranslational protein folding; cell junction assembly; cell-cell junction organization; cellular protein metabolic process; adherens junction organization; 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 | ATP catabolic process; apoptotic process; actin filament-based movement; muscle filament sliding; skeletal muscle thin filament assembly; actomyosin structure organization; actin-myosin filament sliding; response to drug; cardiac muscle contraction; response to ethanol; cardiac myofibril assembly; heart contraction; cardiac muscle tissue morphogenesis | 15q14 |
| ACTG1 | cellular component movement; axon guidance; response to calcium ion; cell-cell junction organization; sarcomere organization; adherens junction organization; cell junction assembly; 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 | chromatin remodeling; regulation of transcription from RNA polymerase II promoter; signal transduction; neural retina development; DNA repair; DNA recombination; nervous system development; regulation of growth; histone H4 acetylation; histone H2A acetylation | 3q26.33 |
| ACTL6B | chromatin organization; nervous system development; chromatin remodeling; regulation of transcription from RNA polymerase II promoter | 7q22 |
| ACTL7B | - | 9q31 |
| ACTL8 | - | 1p36.2-p35 |
| ACTL9 | - | 19p13.2 |
| ACTN1 | cell junction assembly; platelet degranulation; blood coagulation; platelet activation; regulation of apoptotic process; focal adhesion assembly; actin filament bundle assembly; negative regulation of cellular component movement | 14q24|14q22-q24 |
| ACTN1-AS1 | - | 14q24.1 |
| ACTN2 | muscle filament sliding; regulation of apoptotic process; focal adhesion assembly; protein homotetramerization; platelet degranulation; cell adhesion; synaptic transmission; blood coagulation; microspike assembly; platelet activation | 1q42-q43 |
| ACTN3 | muscle filament sliding; regulation of apoptotic process; focal adhesion assembly | 11q13.1 |
| ACTN4 | response to hypoxia; platelet degranulation; blood coagulation; positive regulation of cellular component movement; negative 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 | 19q13 |
| ACTN4P1 | - | 4q26 |
| ACTN4P2 | - | 1p34.3 |
| ACTR10 | microtubule-based movement | 14q23.1 |
| ACTR1A | mitotic cell cycle; G2/M transition of mitotic cell cycle; vesicle-mediated transport | 10q24.32 |
| ACTR1B | - | 2q11.1-q11.2 |
| ACTR2 | cellular component movement | 2p14 |
| ACTR3 | cilium morphogenesis; positive regulation of lamellipodium assembly; cell projection organization; positive regulation of filopodium assembly; positive regulation of dendrite morphogenesis; response to antibiotic; positive regulation of neuron differentiation; regulation of myosin II filament organization; response to carbohydrate stimulus; positive regulation of actin filament polymerization; 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; double-strand break repair; DNA recombination; regulation of transcription, DNA-dependent | 20q11.23 |
| ACTR6 | - | 12q23.1 |
| ACTR8 | DNA repair; DNA recombination; regulation of transcription, DNA-dependent; cell cycle; mitosis; cell division | - |
| ACTRT3 | - | 3q26.2 |
| ACVR1 | positive regulation of bone mineralization; BMP signaling pathway; regulation of ossification; negative regulation of signal transduction; embryo development; heart development; mesoderm development; determination of left/right symmetry; germ cell development; transforming growth factor beta receptor signaling pathway; transmembrane receptor protein serine/threonine kinase signaling pathway; protein phosphorylation; acute inflammatory response; neural crest cell migration; mesoderm formation; gastrulation with mouth forming second; in utero embryonic development; urogenital system development; patterning of blood vessels; G1/S transition of mitotic cell cycle; 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; cellular response to glucocorticoid stimulus; negative regulation of activin receptor signal | 2q23-q24 |
| ACVR1B | protein phosphorylation; protein autophosphorylation; positive regulation of erythrocyte differentiation; positive regulation of activin receptor signaling pathway; activin receptor signaling pathway; negative regulation of cell growth; peptidyl-threonine phosphorylation; transmembrane receptor protein serine/threonine kinase signaling pathway; signal transduction; induction of apoptosis; regulation of transcription, DNA-dependent; G1/S transition of mitotic cell cycle | 12q13 |
| ACVR1C | response to glucose stimulus; protein phosphorylation; response to dietary excess; lipid storage; cell differentiation; response to insulin stimulus; regulation of apoptotic process; negative regulation of insulin secretion | 2q24.1 |
| ACVR2A | mesoderm development; determination of left/right symmetry; BMP signaling pathway; positive regulation of bone mineralization; response to organic substance; anterior/posterior pattern specification; spermatogenesis; transmembrane receptor protein serine/threonine kinase signaling pathway; positive regulation of protein phosphorylation; gastrulation with mouth forming second; regulation of BMP signaling pathway; activin receptor signaling pathway; Sertoli cell proliferation; regulation of nitric-oxide synthase activity; embryonic skeletal system development; positive regulation of follicle-stimulating hormone secretion; positive regulation of osteoblast differentiation; positive regulation of erythrocyte differentiation; penile erection; sperm ejaculation; positive regulation of activin receptor signaling pathway | 2q22.3 |
| ACVR2B | insulin secretion; positive regulation of activin receptor signaling pathway; lung development; positive regulation of bone mineralization; BMP signaling pathway; pancreas development; activation of protein kinase activity; 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; anterior/posterior pattern specification; pattern specification process; mesoderm development; heart development; response to glucose stimulus | 3p22 |
| ACVR2B-AS1 | - | 3p22.2 |
| ACVRL1 | wound healing, spreading of epidermal cells; positive regulation of BMP signaling pathway; negative regulation of cell migration; negative regulation of cell growth; negative regulation of endothelial cell migration; negative regulation of cell proliferation; regulation of blood pressure; blood circulation; transforming growth factor beta receptor signaling pathway; transmembrane receptor protein serine/threonine kinase signaling pathway; signal transduction; negative regulation of cell adhesion; protein phosphorylation; 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 of endothelial cell proliferation; regulation of endothelial cell proliferation; in utero embryonic development; angiogenesis; positive regulation of endothelial cell differentiation; regulation of blood vessel endothelial cell migration; neg | 12q13.13 |
| ACY1 | metabolic process; cellular amino acid metabolic process; proteolysis | 3p21.1 |
| ACY3 | interspecies interaction between organisms; metabolic process | 11q13.2 |
| ACYP1 | phosphate-containing compound metabolic process | 14q24.3 |
| ACYP2 | phosphate-containing compound metabolic process | 2p16.2 |
| ADA | aging; purine-containing compound salvage; nucleotide metabolic process; purine ribonucleoside monophosphate biosynthetic process; positive regulation of heart rate; positive regulation of B cell proliferation; purine nucleotide salvage; positive regulation of T cell differentiation in thymus; regulation of cell-cell adhesion mediated by integrin; T cell activation; negative regulation of circadian sleep/wake cycle, non-REM sleep; response to hydrogen peroxide; negative regulation of apoptotic process; negative regulation of mucus secretion; cell adhesion; deoxyadenosine catabolic process; adenosine catabolic process; purine base metabolic process; negative regulation of mature B cell apoptosis; negative regulation of leukocyte migration; positive regulation of germinal center formation; germinal center B cell differentiation; placenta development; liver development; trophectodermal cell differentiation; histamine secretion; in utero embryonic development; response to hypoxia; lung alveolus development; small | 20q13.12 |
| ADAD1 | cell differentiation; spermatid development; RNA processing; spermatogenesis; multicellular organismal development | 4q27 |
| ADAD2 | RNA processing | 16q24.1 |
| ADAL | hypoxanthine salvage; inosine biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; nucleotide metabolic process; adenosine catabolic process | 15q15.3 |
| ADAM10 | Notch receptor processing; PMA-inducible membrane protein ectodomain proteolysis; constitutive protein ectodomain proteolysis; response to tumor necrosis factor; positive regulation of cell migration; positive regulation of cell growth; positive regulation of T cell chemotaxis; positive regulation of cell proliferation; cell-cell signaling; integrin-mediated signaling pathway; Notch signaling pathway; epidermal growth factor receptor signaling pathway; negative regulation of cell adhesion; membrane protein ectodomain proteolysis; proteolysis; monocyte activation; protein phosphorylation; in utero embryonic development | 15q22 |
| ADAM11 | proteolysis; integrin-mediated signaling pathway | 17q21.3 |
| ADAM12 | epidermal growth factor receptor signaling pathway; myoblast fusion; proteolysis; cell adhesion | 10q26.3 |
| ADAM15 | cell adhesion; cell-matrix adhesion; collagen catabolic process; tissue regeneration; proteolysis; cardiac epithelial to mesenchymal transition; angiogenesis | 1q21.3 |
| ADAM17 | response to hypoxia; membrane protein intracellular domain proteolysis; wound healing, spreading of epidermal cells; cell adhesion mediated by integrin; 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; epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway; positive regulation of transforming growth factor beta receptor signaling pathway; cell adhesion; epidermal growth factor receptor signaling pathway; Notch signaling pathway; positive regulation of cell proliferation; positive regulation of T cell chemotaxis; B cell differentiation; positive regulation of cell growth; positive regulation of leukocyte chemotaxis; PMA-inducible membrane protein ectodomain proteolysis; positive regulation of cellular component movement; positive regul | 2p25 |
| ADAM18 | multicellular organismal development; proteolysis; cell differentiation; spermatogenesis | 8p11.22 |
| ADAM19 | proteolysis | 5q33.3 |
| ADAM1A | - | 12q24.13 |
| ADAM2 | adult behavior; visual learning; fusion of sperm to egg plasma membrane; cell adhesion; proteolysis | 8p11.2 |
| ADAM20 | single fertilization; proteolysis | 14q24.1 |
| ADAM20P1 | - | 14q24.2 |
| ADAM20P2 | - | - |
| ADAM21 | single fertilization; proteolysis | 14q24.1 |
| ADAM22 | central nervous system development; negative regulation of cell adhesion; proteolysis | 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 | integrin-mediated signaling pathway; proteolysis | 20p13 |
| ADAM3A | - | 8p11.23 |
| ADAM5 | - | 8p11.22 |
| ADAM6 | - | 14q32.33 |
| ADAM7 | proteolysis | 8p21.2 |
| ADAM8 | positive regulation of cell adhesion; positive regulation of protein kinase B signaling cascade; cellular response to hypoxia; positive regulation of tumor necrosis factor (ligand) superfamily member 11 production; positive regulation of thymocyte apoptosis; positive regulation of NF-kappaB transcription factor activity; positive regulation of membrane protein ectodomain proteolysis; positive regulation of protein secretion; lymphocyte chemotaxis; positive regulation of bone resorption; negative regulation of neuron apoptosis; activation of MAPK activity involved in innate immune response; positive regulation of T cell differentiation in thymus; regulation of cell-cell adhesion; cell morphogenesis; angiogenesis; leukocyte migration involved in inflammatory response; positive regulation of acute inflammatory response; positive regulation of leukocyte migration; proteolysis; positive regulation of cell migration; positive regulation of protein processing; positive regulation of cellular extravasation; inflammat | 10q26.3 |
| ADAM9 | response to hydrogen peroxide; positive regulation of protein secretion; monocyte activation; positive regulation of macrophage fusion; response to tumor necrosis factor; cell-cell adhesion mediated by integrin; positive regulation of cell adhesion mediated by integrin; cell adhesion mediated by integrin; keratinocyte differentiation; response to manganese ion; integrin-mediated signaling pathway; activation of MAPKK activity; proteolysis; membrane protein ectodomain proteolysis; cell adhesion; positive regulation of membrane protein ectodomain proteolysis; PMA-inducible membrane protein ectodomain proteolysis; response to glucocorticoid stimulus; positive regulation of keratinocyte migration; response to calcium ion; cell-matrix adhesion; transforming growth factor beta receptor signaling pathway | 8p11.22 |
| ADAMDEC1 | negative regulation of cell adhesion; proteolysis; immune response | 8p21.2 |
| ADAMTS1 | heart trabecula formation; ovulation from ovarian follicle; kidney development; proteolysis; integrin-mediated signaling pathway; negative regulation of cell proliferation | 21q21.2 |
| ADAMTS10 | integrin-mediated signaling pathway; proteolysis | 19p13.2 |
| ADAMTS12 | proteolysis | 5q35 |
| ADAMTS13 | platelet activation; response to interleukin-4; glycoprotein metabolic process; protein processing; response to interferon-gamma; response to tumor necrosis factor; response to chemical stimulus; peptide catabolic process; metabolic process; proteolysis; cell-matrix adhesion; integrin-mediated signaling pathway | 9q34 |
| ADAMTS14 | collagen catabolic process; proteolysis | 10q21 |
| ADAMTS15 | proteolysis | 11q25 |
| ADAMTS16 | proteolysis | 5p15 |
| ADAMTS17 | proteolysis | 15q24 |
| ADAMTS18 | proteolysis | 16q23 |
| ADAMTS19 | proteolysis | 5q23.3 |
| ADAMTS2 | lung development; collagen catabolic process; collagen fibril organization; protein processing; metabolic process; spermatogenesis; skin development; proteolysis | 5qter |
| ADAMTS20 | proteolysis; positive regulation of signal transduction; extracellular matrix organization; negative regulation of apoptotic process; positive regulation of melanocyte differentiation; regulation of developmental pigmentation | 12q12 |
| ADAMTS3 | collagen catabolic process; proteolysis; protein processing; collagen fibril organization | 4q13.3 |
| ADAMTS4 | skeletal system development; proteolysis | 1q21-q23 |
| ADAMTS5 | proteolysis | 21q21.3 |
| ADAMTS6 | proteolysis | 5q12 |
| ADAMTS7 | proteolysis | 15q24.2 |
| ADAMTS7P1 | - | - |
| ADAMTS8 | negative regulation of cell proliferation; proteolysis | 11q25 |
| ADAMTS9 | proteolysis; glycoprotein catabolic process; multicellular organismal development; positive regulation of melanocyte differentiation; regulation of developmental pigmentation | 3p14.1 |
| ADAMTS9-AS2 | - | - |
| ADAMTSL1 | - | 9p21.3 |
| ADAMTSL2 | negative regulation of transforming growth factor beta receptor signaling pathway | 9q34.2 |
| ADAMTSL3 | - | 15q25.2 |
| ADAMTSL4 | positive regulation of apoptotic process; extracellular matrix organization | 1q21.3 |
| ADAMTSL5 | - | 19p13.3 |
| ADAP1 | regulation of GTPase activity; regulation of ARF GTPase activity; cell surface receptor signaling pathway | 7p22.3 |
| ADAP2 | heart development; regulation of ARF GTPase activity; positive regulation of GTPase activity | 17q11.2 |
| ADAR | negative regulation of apoptotic process; adenosine to inosine editing; mRNA processing; gene expression; base conversion or substitution editing; mRNA modification; cytokine-mediated signaling pathway; gene silencing by RNA; type I interferon-mediated signaling pathway | 1q21.3 |
| ADARB1 | adenosine to inosine editing; RNA processing; mRNA processing; gene expression; base conversion or substitution editing; mRNA modification | 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 | transmembrane transport; cAMP biosynthetic process; cellular response to glucagon stimulus; 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; long-term memory; axonogenesis; synaptic transmission; activation of phospholipase C activity; 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; energy reserve metabolic process | 7p13-p12 |
| ADCY10 | intracellular signal transduction; positive regulation of apoptotic process; spermatogenesis; cAMP biosynthetic process | 1q24 |
| ADCY10P1 | - | 6p21.1 |
| ADCY2 | activation of protein kinase A activity; energy reserve metabolic process; cellular response to glucagon stimulus; transmembrane transport; nerve growth factor receptor signaling pathway; small molecule metabolic process; intracellular signal transduction; 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; inhibition of adenylate cyclase activity by G-protein signaling pathway | 5p15.3 |
| ADCY3 | fibroblast growth factor receptor signaling pathway; sensory perception of smell; synaptic transmission; activation of phospholipase C activity; 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; female meiosis; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process; small molecule metabolic process; intracellular signal transduction; nerve growth factor receptor signaling pathway; response to stimulus; transmembrane transport; cellular response to glucagon stimulus; activation of protein kinase A activity | 2p23.3 |
| ADCY4 | water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process; signal transduction; epidermal growth factor receptor signaling pathway; activation of phospholipase C activity; 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; G-protein signaling, coupled to cAMP nucleotide second messenger; inhibition of adenylate cyclase activity by G-protein signaling pathway; cellular response to glucagon stimulus; transmembrane transport; nerve growth factor receptor signaling pathway | 14q12 |
| ADCY5 | activation of adenylate cyclase activity by G-protein signaling pathway; energy reserve metabolic process; cAMP biosynthetic process; GTP catabolic process; water transport; signal transduction; epidermal growth factor receptor signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; activation of phospholipase C activity; 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; synaptic transmission | 3q21.1 |
| ADCY6 | fibroblast growth factor receptor signaling pathway; synaptic transmission; activation of phospholipase C activity; inhibition of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; activation of protein kinase A activity; epidermal growth factor receptor signaling pathway; signal transduction; water transport; intracellular signal transduction; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process; small molecule metabolic process; nerve growth factor receptor signaling pathway; transmembrane transport; cellular response to glucagon stimulus | 12q12-q13 |
| ADCY7 | positive regulation of cAMP biosynthetic process; cellular response to glucagon stimulus; cellular response to ethanol; 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; inhibition of adenylate cyclase activity by G-protein signaling pathway; 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; activation of phospholipase C activity | 16q12.1 |
| ADCY8 | signal transduction; 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; cAMP-mediated signaling; fibroblast growth factor receptor signaling pathway; learning or memory; activation of phospholipase C activity; 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; synaptic transmission; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process | 8q24 |
| ADCY9 | small molecule metabolic process; activation of protein kinase A activity; fibroblast growth factor receptor signaling pathway; synaptic transmission; activation of phospholipase C activity; 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; intracellular signal transduction; nerve growth factor receptor signaling pathway; cellular response to glucagon stimulus; transmembrane transport | 16p13.3 |
| ADCYAP1 | nerve growth factor receptor signaling pathway; regulation of G-protein coupled receptor protein signaling pathway; female pregnancy; cell-cell signaling; activation of adenylate cyclase activity; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; negative regulation of cell cycle | 18p11 |
| ADCYAP1R1 | cell surface receptor signaling pathway; 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; cell differentiation; 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 | 7p14 |
| ADD1 | actin cytoskeleton organization; endoplasmic reticulum unfolded protein response; positive regulation of protein binding; barbed-end actin filament capping; actin filament bundle assembly; apoptotic process; cellular component disassembly involved in apoptosis; activation of signaling protein activity involved in unfolded protein response | 4p16.3 |
| ADD2 | barbed-end actin filament capping; positive regulation of protein binding; hemopoiesis; actin cytoskeleton organization; ion transport; actin filament bundle assembly | 2p13.3 |
| ADD3 | response to drug | 10q25.2 |
| ADD3-AS1 | - | - |
| ADGB | proteolysis; oxygen transport | 6q24.3 |
| ADGRA1 | signal transduction; G-protein coupled receptor signaling pathway | 10q26 |
| ADGRA2 | regulation of chemotaxis; sprouting angiogenesis; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; central nervous system development; endothelial cell migration; regulation of angiogenesis | 8p11.23 |
| ADGRA3 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 4p15.2 |
| ADGRB1 | negative regulation of cell proliferation; cell adhesion; signal transduction; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; axonogenesis; peripheral nervous system development; negative regulation of angiogenesis | 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 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 12q24.33 |
| ADGRE1 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; cell adhesion | 19p13.3 |
| ADGRE2 | cell adhesion; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 19p13.1 |
| ADGRE3 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 19p13.1 |
| ADGRE4P | - | 19p13.3 |
| ADGRE5 | cell-cell signaling; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; cell surface receptor signaling pathway; cell adhesion; immune response; inflammatory response; cellular component movement | 19p13 |
| ADGRF1 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 6p12.3 |
| ADGRF2 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 6p12.3 |
| ADGRF3 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 2p23.3 |
| ADGRF4 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 6p12.3 |
| ADGRF5 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 6p12.3 |
| ADGRG1 | neuropeptide signaling pathway; cell-cell signaling; brain development; G-protein coupled receptor signaling pathway; cell adhesion | 16q13 |
| ADGRG2 | spermatogenesis; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | Xp22.13 |
| ADGRG3 | neuropeptide signaling pathway | 16q21 |
| ADGRG4 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | Xq26.3 |
| ADGRG5 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 16q21 |
| ADGRG6 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 6q24.1 |
| ADGRG7 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 3q12.2 |
| ADGRL1 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; brain development | 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 | photoreceptor cell maintenance; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; nervous system development; sensory perception of sound; cell-cell adhesion; maintenance of organ identity; inner ear development; neurological system process; response to stimulus; detection of mechanical stimulus involved in sensory perception of sound; sensory perception of light stimulus; inner ear receptor stereocilium organization | 5q13 |
| ADH1A | ethanol oxidation; transcription, DNA-dependent; xenobiotic metabolic process; small molecule metabolic process; alcohol metabolic process | 4q23 |
| ADH1B | ethanol oxidation; xenobiotic metabolic process; small molecule metabolic process | 4q23 |
| ADH1C | ethanol oxidation; xenobiotic metabolic process; small molecule metabolic process | 4q23 |
| ADH5 | response to redox state; respiratory system process; response to nitrosative stress; formaldehyde catabolic process; positive regulation of blood pressure; response to lipopolysaccharide; peptidyl-cysteine S-nitrosylation; aging; ethanol oxidation; ethanol catabolic process; retinoid metabolic process | 4q23 |
| ADH5P2 | - | 1p31.1 |
| ADH5P3 | - | 1q43 |
| ADH5P4 | - | 6q12 |
| ADH6 | response to ethanol; small molecule metabolic process; xenobiotic metabolic process; ethanol oxidation | 4q23 |
| ADH7 | 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; oxidation-reduction process | 4q23-q24 |
| ADHFE1 | small molecule metabolic process; 2-oxoglutarate metabolic process; molecular hydrogen transport | 8q13.1 |
| ADI1 | oxidation-reduction process; small molecule metabolic process; cellular nitrogen compound metabolic process; L-methionine salvage from methylthioadenosine; methionine biosynthetic process; sulfur amino acid metabolic process; cellular amino acid biosynthetic process; polyamine metabolic process | 2p25.3 |
| ADIG | positive regulation of fat cell differentiation; brown fat cell differentiation; white fat cell differentiation | 20q11.23 |
| ADIPOQ-AS1 | - | - |
| ADIPOR1 | fatty acid oxidation; hormone-mediated signaling pathway; lipid metabolic process | 1q32.1 |
| ADIPOR2 | fatty acid oxidation; hormone-mediated signaling pathway; lipid metabolic process | 12p13.31 |
| ADIRF | - | 10q23.2 |
| ADIRF-AS1 | - | 10q23.2 |
| ADK | adenosine metabolic process; purine base metabolic process; purine ribonucleoside salvage; AMP biosynthetic process; dATP biosynthetic process; ribonucleoside monophosphate biosynthetic process; positive regulation of T cell proliferation; purine-containing compound salvage; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 10q22|10q11-q24 |
| ADM | positive regulation of anti-apoptosis; G-protein coupled receptor internalization; branching involved in embryonic placenta morphogenesis; spongiotrophoblast layer development; negative regulation of cell proliferation; positive regulation of cell proliferation; androgen metabolic process; vasculogenesis; response to hypoxia; neural tube closure; regulation of the force of heart contraction; calcium ion homeostasis; cAMP biosynthetic process; progesterone biosynthetic process; blood circulation; aging; female pregnancy; heart development; cell-cell signaling; elevation of cytosolic calcium ion concentration; signal transduction; response to insulin stimulus; response to organic substance; positive regulation of heart rate; cAMP-mediated signaling; positive regulation of cAMP biosynthetic process; organ regeneration; neuron projection regeneration; receptor internalization; response to lipopolysaccharide; response to wounding; odontogenesis of dentin-containing tooth; response to starvation; negative regulatio | 11p15.4 |
| ADM2 | positive regulation of angiogenesis; feeding behavior; positive regulation of gene expression; negative regulation of blood pressure; digestion; activation of adenylate cyclase activity by G-protein signaling pathway; angiogenesis; protein phosphorylation | 22q13.33 |
| ADM5 | - | 19q13.33 |
| ADNP | response to inorganic substance; positive regulation of synapse assembly; response to carbohydrate stimulus; short-term memory; negative regulation of gene expression; regulation of protein ADP-ribosylation; positive regulation of neuron projection development; positive regulation of cGMP biosynthetic process; nitric oxide homeostasis; negative regulation of synaptic transmission; negative regulation of neuron apoptosis; cellular response to extracellular stimulus; positive regulation of axon extension; estrous cycle phase; negative regulation of protein binding; activation of protein kinase activity; neuroprotection; positive regulation of peptidyl-tyrosine phosphorylation | 20q13.13 |
| ADNP2 | positive regulation of cell growth; cellular response to oxidative stress; negative regulation of cell death; cellular response to retinoic acid; neuron differentiation | 18q23 |
| ADO | - | 10q21.3 |
| ADORA1 | negative regulation of acute inflammatory response; induction of apoptosis by extracellular signals; negative regulation of neurotrophin production; positive regulation of protein dephosphorylation; negative regulation of renal sodium excretion; negative regulation of circadian sleep/wake cycle, non-REM sleep; negative regulation of apoptotic process; positive regulation of potassium ion transport; positive regulation of epidermal growth factor-activated receptor activity; negative regulation of blood pressure; positive regulation of blood pressure; negative regulation of heart contraction; negative regulation of vasodilation; negative regulation of hormone secretion; regulation of synaptic plasticity; cognition; regulation of respiratory gaseous exchange by neurological system process; response to hypoxia; temperature homeostasis; activation of MAPKK activity; negative regulation of lipid catabolic process; negative regulation of cell proliferation; negative regulation of glutamate secretion; negative regula | 1q32.1 |
| ADORA2A | transmembrane receptor protein tyrosine kinase signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; cellular defense response; activation of adenylate cyclase activity; cell-cell signaling; central nervous system development; blood coagulation; sensory perception; blood circulation; nerve growth factor receptor signaling pathway; inflammatory response; apoptotic process; phagocytosis; cAMP biosynthetic process | 22q11.23 |
| ADORA2B | activation of MAPK activity; relaxation of vascular smooth muscle; positive regulation of vasodilation; regulation of angiogenesis; positive regulation of mast cell degranulation; negative regulation of collagen biosynthetic process; positive regulation of interleukin-6 production; positive regulation of chemokine production; cellular response to extracellular stimulus; positive regulation of guanylate cyclase activity; positive regulation of cGMP biosynthetic process; positive regulation of cAMP biosynthetic process; positive regulation of steroid biosynthetic process; positive regulation vascular endothelial growth factor production; positive regulation of chronic inflammatory response to non-antigenic stimulus; cellular defense response; G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity; JNK cascade; excretion; positive regulation of cell proliferation; negative regulation of cell proliferation; po | 17p12 |
| ADORA3 | inflammatory response; signal transduction; activation of adenylate cyclase activity; response to wounding; regulation of heart contraction | 1p13.2 |
| ADPGK | glycolysis; carbohydrate metabolic process | 15q24.1 |
| ADPRH | protein de-ADP-ribosylation; protein modification process | 3q13.31-q13.33 |
| ADPRHL1 | protein de-ADP-ribosylation | 13q34 |
| ADPRHL2 | - | 1p34.3 |
| ADPRM | - | 17p13.1 |
| ADRA1A | activation of phospholipase C activity; apoptotic process; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration; intracellular protein kinase cascade; cell-cell signaling; aging; negative regulation of cell proliferation; response to hormone stimulus; negative regulation of synaptic transmission, GABAergic; negative regulation of Rho protein signal transduction; response to drug; positive regulation of action potential; positive regulation of vasoconstriction; calcium ion transport into cytosol; positive regulation of ERK1 and ERK2 cascade; smooth muscle contraction; response to stress; signal transduction; positive regulation of protein kinase C signaling cascade; positive regulation of cardiac muscle contraction | 8p21.2 |
| ADRA1B | cell proliferation; G-protein coupled receptor signaling pathway; locomotory behavior; adult heart development; multicellular organismal development; cell-cell signaling; intracellular protein kinase cascade; G-protein signaling, coupled to cAMP nucleotide second messenger; cell growth; visual learning; 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; 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 | G-protein signaling, coupled to cAMP nucleotide second messenger; negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure; norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure; DNA metabolic process; G-protein coupled receptor signaling pathway; cell-cell signaling; multicellular organismal development; cell proliferation; positive regulation of cell proliferation | 20p13 |
| ADRA2A | intestinal absorption; epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway; glucose homeostasis; fear response; positive regulation of potassium ion transport; positive regulation of MAP kinase activity; small molecule metabolic process; positive regulation of epidermal growth factor-activated receptor activity; negative regulation of calcium ion-dependent exocytosis; negative regulation of insulin secretion; regulation of insulin secretion; negative regulation of lipid catabolic process; positive regulation of membrane protein ectodomain proteolysis; activation of MAPK activity by adrenergic receptor signaling pathway; activation of phospholipase C activity by adrenergic receptor signaling pathway; inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway; negative regulation of adrenergic receptor signaling pathway; positive regulation of wound healing; negative regulation of insulin secretion involved in cellular response to glu | 10q25.2 |
| ADRA2B | positive regulation of blood pressure; angiogenesis; MAPK cascade; activation of MAPK activity by adrenergic receptor signaling pathway; positive regulation of uterine smooth muscle contraction; 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 | 2q11.1 |
| ADRA2C | cell-cell signaling; activation of MAPK activity by adrenergic receptor signaling pathway; regulation of insulin secretion; positive regulation of neuron differentiation; small molecule metabolic process; 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; G-protein coupled receptor signaling pathway; energy reserve metabolic process | 4p16 |
| ADRB1 | Rho protein signal transduction; 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; glycogen catabolic process; positive regulation of cell growth involved in cardiac muscle cell development; regulation of inhibitory postsynaptic membrane potential; positive regulation of calcium ion transport via voltage-gated calcium channel activity; brown fat cell differentiation; positive regulation of saliva secretion; negative regulation of smooth muscle contraction; fear response; wound healing; negative regulation of multicellular organism growth; negative regulation of urine volume; heat generation; positive regulation of cAMP biosynthetic process; sensory perception of pain; response to cold; memory; aging; activation of adenylate cyclase activity; activation of adenylate cyclase activity by G-protein | 10q25.3 |
| ADRB2 | synaptic transmission, glutamatergic; positive regulation of transcription from RNA polymerase II promoter; negative regulation of urine volume; negative regulation of multicellular organism growth; wound healing; positive regulation of apoptotic process; positive regulation of potassium ion transport; positive regulation of MAPK cascade; bone resorption; positive regulation of heart contraction; positive regulation of vasodilation; diet induced thermogenesis; negative regulation of smooth muscle contraction; positive regulation of skeletal muscle tissue growth; negative regulation of inflammatory response; brown fat cell differentiation; negative regulation of calcium ion transport via voltage-gated calcium channel activity; positive regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of sensory perception of pain; regulation of excitatory postsynaptic membrane potential; positive regulation of bone mineralization; heat generation; vasodilation by norepinephrine-epineph | 5q31-q32 |
| ADRBK1 | response to organic cyclic compound; peptidyl-threonine phosphorylation; nerve growth factor receptor signaling pathway; cardiac muscle contraction; negative regulation of striated muscle contraction; follicle-stimulating hormone signaling pathway; regulation of the force of heart contraction; response to hydrogen peroxide; termination of G-protein coupled receptor signaling pathway; positive regulation of catecholamine secretion; receptor internalization; peptidyl-serine phosphorylation; fibroblast growth factor receptor signaling pathway; aging; heart development; tachykinin receptor signaling pathway; G-protein coupled acetylcholine receptor signaling pathway; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; signal transduction; response to oxidative stress; negative regulation of the force of heart contraction by chemical signal; desensitization of G-protein coupled receptor protein signaling pathway | 11q13.1 |
| ADRBK2 | termination of G-protein coupled receptor signaling pathway; receptor internalization; signal transduction; protein phosphorylation | 22q12.1 |
| ADRM1 | proteasome assembly; positive regulation of endopeptidase activity; transcription elongation from RNA polymerase II promoter | 20q13.33 |
| ADSL | purine nucleotide biosynthetic process; response to hypoxia; purine base metabolic process; AMP biosynthetic process; response to nutrient; aerobic respiration; purine ribonucleoside monophosphate biosynthetic process; small molecule metabolic process; protein tetramerization; nucleobase-containing small molecule metabolic process | 22q13.2 |
| ADSS | AMP biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; purine nucleotide biosynthetic process; purine base metabolic process; immune system process; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 1q44 |
| ADSSL1 | 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 | 14q32.33 |
| ADTRP | - | 6p24.1 |
| AEBP1 | muscle organ development; cell adhesion; proteolysis; regulation of transcription, DNA-dependent; skeletal system development | 7p13 |
| AEBP2 | chromatin modification; regulation of transcription, DNA-dependent | 12p12.3 |
| AEN | response to DNA damage stimulus; apoptotic process; response to ionizing radiation; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis | 15q26.1 |
| AES | negative regulation of canonical Wnt receptor signaling pathway; regulation of transcription from RNA polymerase II promoter; skeletal system development; negative regulation of transcription from RNA polymerase II promoter; multicellular organismal development; organ morphogenesis; negative regulation of response to cytokine stimulus; response to interleukin-1; Wnt receptor signaling pathway; cellular response to extracellular stimulus; negative regulation of protein binding; regulation of growth; negative regulation of transcription, DNA-dependent | 19p13.3 |
| AF357530 | - | 4q21.1 |
| AFAP1 | - | 4p16 |
| AFAP1-AS1 | - | 4p16.1 |
| AFAP1L1 | - | 5q32 |
| AFAP1L2 | positive regulation of interleukin-8 production; positive regulation of epidermal growth factor receptor signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of protein tyrosine kinase activity; 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; learning or memory; regulation of RNA splicing | Xq28 |
| AFF3 | regulation of transcription, DNA-dependent; response to tumor necrosis factor; embryonic hindlimb morphogenesis | 2q11.2-q12 |
| AFF4 | regulation of transcription, DNA-dependent; spermatid development; transcription from RNA polymerase II promoter | 5q31 |
| AFG3L1P | - | 16q24.3 |
| AFG3L2 | cell death; regulation of multicellular organism growth; protein catabolic process; nerve development; muscle fiber development; righting reflex; myelination; proteolysis; neuromuscular junction development; axonogenesis | 18p11 |
| AFG3L2P1 | - | 8p11.1 |
| AFM | vitamin transport | 4q13.3 |
| AFMID | small molecule metabolic process; tryptophan catabolic process; cellular nitrogen compound metabolic process; tryptophan catabolic process to kynurenine | 17q25.3 |
| AFP | ovulation from ovarian follicle; liver development; transport; response to organic substance; sexual reproduction; SMAD protein signal transduction; pancreas development; organ regeneration; progesterone metabolic process | 4q13.3 |
| AFTPH | protein transport | 2p14 |
| AGA | asparagine catabolic process via L-aspartate; protein maturation; protein deglycosylation | 4q34.3 |
| AGAP1 | regulation of ARF GTPase activity; protein transport; 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 | axon guidance; small GTPase mediated signal transduction; regulation of ARF GTPase activity; negative regulation of protein catabolic process; negative regulation of neuron apoptosis; protein transport | 12q14.1 |
| AGAP2-AS1 | - | 12q14.1 |
| AGAP3 | regulation of ARF GTPase activity; signal transduction; small GTPase mediated signal transduction | 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 | proteolysis; C-terminal protein deglutamylation; protein side chain deglutamylation | 15q25.3 |
| AGBL2 | proteolysis | 11p11.2 |
| AGBL3 | proteolysis | 7q33 |
| AGBL4 | protein side chain deglutamylation; C-terminal protein deglutamylation; proteolysis | 1p33 |
| AGBL5 | proteolysis; protein branching point deglutamylation; protein deglutamylation | 2p23.3 |
| AGBL5-AS1 | - | - |
| AGER | brain development; positive regulation of fibroblast migration; lung development; neuron projection development; positive regulation of apoptotic process; innate immune response; positive regulation of smooth muscle cell proliferation; positive regulation of inflammatory response; response to wounding; JAK-STAT cascade; cell surface receptor signaling pathway; induction of positive chemotaxis; positive regulation of NF-kappaB transcription factor activity; calcium ion homeostasis; response to hyperoxia; inflammatory response | 6p21.3 |
| AGFG1 | regulation of ARF GTPase activity; spermatogenesis; multicellular organismal development; transport; mRNA export from nucleus; cell differentiation | 2q36.3 |
| AGFG2 | regulation of ARF GTPase activity | 7q22.1 |
| AGGF1 | RNA processing; positive regulation of endothelial cell proliferation; vasculogenesis; positive regulation of angiogenesis; multicellular organismal development; cell adhesion | 5q13.3 |
| AGGF1P1 | - | 4q35.2 |
| AGGF1P4 | - | 16p11.1 |
| AGK | ceramide biosynthetic process; metabolic process; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway | 7q34 |
| AGKP1 | - | Yq11.21 |
| AGL | glucose metabolic process; glycogen biosynthetic process; carbohydrate metabolic process; glycogen catabolic process; response to nutrient; response to hormone stimulus; small molecule metabolic process; response to glucocorticoid stimulus | 1p21 |
| AGMAT | small molecule metabolic process; cellular nitrogen compound metabolic process; putrescine biosynthetic process; spermidine biosynthetic process; agmatine biosynthetic process; polyamine metabolic 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 | metabolic process; positive regulation of cytokine production; positive regulation of cytokine-mediated signaling pathway; energy reserve metabolic process; phospholipid metabolic process; phosphatidic acid biosynthetic process; phospholipid biosynthetic process; triglyceride biosynthetic process; positive regulation of cellular metabolic process; small molecule metabolic process; cellular lipid metabolic process | 6p21.3 |
| AGPAT2 | cellular lipid metabolic process; positive regulation of cytokine-mediated signaling pathway; positive regulation of cytokine production; small molecule metabolic process; triglyceride biosynthetic process; phospholipid biosynthetic process; phospholipid metabolic process; epidermis development; phosphatidic acid biosynthetic process | 9q34.3 |
| AGPAT3 | metabolic process; phospholipid biosynthetic process | 21q22.3 |
| AGPAT4 | metabolic process; phospholipid biosynthetic process | 6q26 |
| AGPAT4-IT1 | - | 6q26 |
| AGPAT5 | phospholipid biosynthetic process; metabolic process; acylglycerol metabolic process | 8p23.1 |
| AGPAT5P1 | - | Yp11.2 |
| AGPS | small molecule metabolic process; cellular lipid metabolic process; response to chemical stimulus; ether lipid biosynthetic process; lipid biosynthetic process | 2q31.2 |
| AGR2 | mucus secretion | 7p21.3 |
| AGR3 | - | 7p21.1 |
| AGRN | plasma membrane organization; clustering of voltage-gated sodium channels; positive regulation of neuron apoptosis; receptor clustering; multicellular organismal development; signal transduction; axon guidance; G-protein coupled acetylcholine receptor signaling pathway; synapse organization; neurotransmitter receptor metabolic process; synapse assembly; neuromuscular junction development; positive regulation of transcription from RNA polymerase II promoter; regulation of synaptic growth at neuromuscular junction; regulation of receptor activity; cell differentiation | 1p36.33 |
| AGT | positive regulation of transcription, DNA-dependent; low-density lipoprotein particle remodeling; positive regulation of blood pressure; positive regulation of epidermal growth factor receptor signaling pathway; positive regulation of fatty acid biosynthetic process; small molecule metabolic process; cellular lipid metabolic process; negative regulation of neuron apoptosis; positive regulation of MAPK cascade; positive regulation of catalytic activity; positive regulation of apoptotic process; hormone metabolic process; vasodilation; regulation of cell proliferation; positive regulation of multicellular organism growth; positive regulation of renal sodium excretion; regulation of renal sodium excretion; catenin import into nucleus; positive regulation of NAD(P)H oxidase activity; smooth muscle cell differentiation; positive regulation of reactive oxygen species metabolic process; positive regulation of branching involved in ureteric bud morphogenesis; cellular response to mechanical stimulus; ERK1 and ERK2 ca | 1q42.2 |
| AGTPBP1 | neuromuscular process; cerebellar Purkinje cell layer development; mitochondrion organization; proteolysis; eye photoreceptor cell differentiation; 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 reactive oxygen species metabolic process; cell chemotaxis; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; positive regulation of inflammatory response; regulation of inflammatory response; regulation of vasodilation; regulation of cell proliferation; low-density lipoprotein particle remodeling; regulation of renal sodium excretion; positive regulation of macrophage derived foam cell differentiation; Rho protein signal transduction; elevation of cytosolic calcium ion concentration; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; G-protein coupled receptor signaling pathway; regulation of systemic arterial blood pressure by renin-angiotensin; regulation of blood vessel size by renin-angiotensin; renin-angiotensin regulation of aldosterone production; kidney development; regulation of cell growth; positive regulation of cholesterol esterificati | 3q24 |
| AGTR2 | 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; regulation of metanephros size; G-protein signaling, coupled to cGMP nucleotide second messenger; positive regulation of apoptotic process; G-protein coupled receptor signaling pathway; cell surface receptor signaling pathway; inflammatory response; brain renin-angiotensin system; vasodilation by angiotensin involved in regulation of systemic arterial blood pressure; regulation of systemic arterial blood pressure by circulatory renin-angiotensin; blood vessel remodeling; intracellular protein kinase cascade; nitric oxide mediated signal transductio | Xq22-q23 |
| AGTRAP | regulation of blood pressure; G-protein coupled receptor signaling pathway; response to hypoxia | 1p36.22 |
| AGXT | glyoxylate metabolic process; response to cAMP; response to glucocorticoid stimulus; oxalic acid secretion; small molecule metabolic process; pyruvate biosynthetic process; L-alanine catabolic process; cellular nitrogen compound metabolic process; glycine biosynthetic process, by transamination of glyoxylate; glyoxylate catabolic process; protein targeting to peroxisome | 2q37.3 |
| AGXT2 | pyrimidine base metabolic process; pyrimidine nucleoside catabolic process; glyoxylate metabolic process; nucleobase-containing small molecule metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process | 5p13 |
| AHCTF1 | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; cytokinesis; protein transport; mRNA transport; nuclear pore complex assembly | 1q44 |
| AHCTF1P1 | - | 2q24.2 |
| AHCY | sulfur amino acid metabolic process; xenobiotic metabolic process; methylation; cellular nitrogen compound metabolic process; small molecule metabolic process; one-carbon 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 | cilium assembly; otic vesicle development; pronephric duct morphogenesis; pronephric nephron tubule morphogenesis; photoreceptor cell outer segment organization; cloaca development; cellular protein localization; protein localization to organelle; hindbrain development; positive regulation of polarized epithelial cell differentiation; cell projection organization; vesicle-mediated transport; morphogenesis of a polarized epithelium; heart looping; positive regulation of receptor internalization; retina layer formation; central nervous system development; transmembrane receptor protein tyrosine kinase signaling pathway; positive regulation of transcription from RNA polymerase II promoter; regulation of behavior; cilium morphogenesis; specification of axis polarity; Kupffer's vesicle development; negative regulation of apoptotic process; left/right axis specification | 6q23.3 |
| AHNAK | nervous system development | 11q12.2 |
| AHNAK2 | - | 14q32.33 |
| AHR | prostate gland development; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; xenobiotic metabolic process; apoptotic process; response to stress; cell cycle; response to xenobiotic stimulus; regulation of gene expression; response to organic cyclic compound; intracellular receptor mediated signaling pathway; circumferential growth involved in left ventricle morphogenesis; regulation of B cell proliferation; response to estradiol stimulus; embryonic hemopoiesis; 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; positive regulation of RNA polymerase II transcriptional preinitiation complex assembly; negative regulation of systemic arterial blood pressure; glomerulus morphogenesis; cellular response to glucocorticoid stimulus; common bile duct development; kidney | 7p15 |
| AHRR | regulation of transcription, DNA-dependent | 5p15.3 |
| AHSA1 | positive regulation of ATPase activity; response to stress; protein folding | 14q24 |
| AHSA2 | response to stress | 2p15 |
| AHSG | pinocytosis; positive regulation of phagocytosis; acute-phase response; male gonad development; cerebral cortex development; negative regulation of cell growth; regulation of bone mineralization; negative regulation of bone mineralization; organ regeneration; cellular response to insulin stimulus; negative regulation of phosphorylation; positive regulation of bone resorption; negative regulation of insulin receptor signaling pathway; regulation of inflammatory response; ossification; skeletal system development | 3q27 |
| AHSP | protein stabilization; hemopoiesis; hemoglobin metabolic process; protein folding | 16p11.2 |
| AIDA | multicellular organismal development; negative regulation of JNK cascade; dorsal/ventral pattern formation; regulation of protein homodimerization activity; negative regulation of JUN kinase activity | 1q41 |
| AIF1 | positive regulation of protein phosphorylation; phagocytosis, engulfment; inflammatory response; negative regulation of gene expression; positive regulation of muscle hyperplasia; Rac protein signal transduction; actin filament polymerization; positive regulation of cell migration; cellular response to extracellular stimulus; cellular response to hormone stimulus; response to cytokine stimulus; positive regulation of T cell proliferation; negative regulation of apoptotic process; microglial cell activation; positive regulation of nitric oxide biosynthetic process; positive regulation of smooth muscle cell proliferation; response to axon injury; actin filament bundle assembly; response to electrical stimulus; cellular response to chemical stimulus; cellular response to interferon-gamma; positive regulation of smooth muscle cell chemotaxis; positive regulation of monocyte chemotaxis; ruffle assembly; regulation of G1/S transition of mitotic cell cycle; positive regulation of T cell migration | 6p21.3 |
| AIF1L | - | 9q34.13-q34.3 |
| AIFM1 | neuron apoptosis; cell redox homeostasis; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptosis in response to endoplasmic reticulum stress; DNA fragmentation involved in apoptotic nuclear change | Xq26.1 |
| AIFM1P1 | - | 10p12.31 |
| AIFM2 | induction of apoptosis; apoptotic mitochondrial changes; chromosome condensation | 10q22.1 |
| AIFM3 | mitochondrial depolarization; transport; apoptotic process; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; electron transport chain; cell redox homeostasis | 22q11.21 |
| AIG1 | - | 6q24.2 |
| AIM1 | - | 6q21 |
| AIM1L | - | 1p36.11 |
| AIM2 | immune response; cellular response to interferon-beta; cellular response to drug; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response; interleukin-1 beta secretion | 1q22 |
| AIMP1 | signal transduction; angiogenesis; response to wounding; gene expression; leukocyte migration; cell-cell signaling; cell adhesion; inflammatory response; negative regulation of endothelial cell proliferation; chemotaxis; apoptotic process; tRNA aminoacylation for protein translation; glucose metabolic process; carbohydrate metabolic process | 4q24 |
| AIMP1P1 | - | 20p12.1 |
| AIMP2 | tRNA aminoacylation for protein translation; apoptotic process; multicellular organismal development; gene expression; cell differentiation | 7p22 |
| AIP | xenobiotic metabolic process; protein targeting to mitochondrion; negative regulation of cyclic-nucleotide phosphodiesterase activity; protein maturation by protein folding; regulation of protein kinase A signaling cascade; signal transduction | 11q13.3 |
| AIPL1 | retina homeostasis; response to stimulus; negative regulation of apoptotic process; regulation of cGMP metabolic process; protein farnesylation; phototransduction, visible light; visual perception; protein folding | 17p13.1 |
| AIRE | regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; humoral immune response; immune response | 21q22.3 |
| AJAP1 | cell adhesion | 1p36.32 |
| AJUBA | glycerophospholipid biosynthetic process; focal adhesion assembly; positive regulation of MAP kinase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of GTPase activity; wound healing, spreading of epidermal cells; gene silencing by miRNA; cellular protein localization; negative regulation of kinase activity; negative regulation of transcription from RNA polymerase II promoter; cell cycle; cell adhesion; calcium-dependent cell-cell adhesion; lamellipodium assembly; regulation of cell migration; positive regulation of cellular biosynthetic process; positive regulation of kinase activity; positive regulation of protein complex assembly | 14q11.2 |
| AK1 | nucleobase-containing small molecule metabolic process; ATP metabolic process; small molecule metabolic process; nucleobase-containing small molecule interconversion; nucleobase-containing compound metabolic process | 9q34.1 |
| AK2 | small molecule metabolic process; nucleobase-containing small molecule metabolic process; nucleobase-containing small molecule interconversion | 1p34 |
| AK2P1 | - | 1p32.1 |
| AK2P2 | - | 2p23.1 |
| AK3 | blood coagulation; AMP phosphorylation; nucleobase-containing compound metabolic process | 9p24.1 |
| AK3P2 | - | 8q24.3 |
| AK3P3 | - | - |
| AK3P5 | - | 10p11.22 |
| AK4P2 | - | 5q11.2 |
| AK4P3 | - | 12p11.21 |
| AK4P4 | - | 9p24.1 |
| AK5 | ADP biosynthetic process; dADP biosynthetic process; signal transduction; nucleotide biosynthetic process; pyrimidine ribonucleotide biosynthetic process; nucleobase-containing small molecule interconversion; nucleobase-containing small molecule metabolic process; ATP metabolic process; 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 | blood coagulation; negative regulation of cardiac muscle hypertrophy; cellular response to insulin stimulus; negative regulation of protein dephosphorylation; negative regulation of NFAT protein import into nucleus; cellular response to chemical stimulus | 17q22 |
| AKAP10 | signal transduction; termination of G-protein coupled receptor signaling pathway; protein localization; blood coagulation | 17p11.1 |
| AKAP11 | regulation of protein kinase A signaling cascade; intracellular protein kinase cascade | 13q14.11 |
| AKAP12 | positive regulation of cAMP biosynthetic process; protein targeting; signal transduction; G-protein coupled receptor signaling pathway; positive regulation of protein kinase A signaling cascade | 6q24-q25 |
| AKAP13 | 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 | 15q24-q25 |
| AKAP14 | spermatogenesis | Xq24 |
| AKAP16BP | - | Xq24 |
| AKAP17A | regulation of transcription, DNA-dependent; mRNA processing; signal transduction; B cell activation; regulation of RNA splicing | Xp22.33 and Yp11.32 |
| AKAP2 | - | 9q31.3 |
| AKAP3 | cellular component movement; transmembrane receptor protein serine/threonine kinase signaling pathway; single fertilization; acrosome reaction; protein localization | 12p13.3 |
| AKAP4 | single fertilization; cellular component movement; signal transduction; transmembrane receptor protein serine/threonine kinase signaling pathway; sperm motility; cell projection organization; protein localization | Xp11.2 |
| AKAP5 | regulation of insulin secretion; energy reserve metabolic process; protein targeting; signal transduction; synaptic transmission; positive regulation of protein kinase A signaling cascade; positive regulation of cAMP biosynthetic process; small molecule metabolic process | 14q23.3 |
| AKAP6 | positive regulation of protein phosphatase type 2B activity; regulation of protein kinase A signaling cascade; protein targeting | 14q12 |
| AKAP7 | RNA metabolic process; regulation of protein kinase A signaling cascade; ion transport; protein localization; intracellular signal transduction | 6q23 |
| AKAP8 | signal transduction; mitotic chromosome condensation; mitosis | 19p13.1 |
| AKAP8L | - | 19p13.12 |
| AKAP9 | G2/M transition of mitotic cell cycle; mitotic cell cycle; transport; signal transduction; synaptic transmission | 7q21-q22 |
| AKIP1 | substrate adhesion-dependent cell spreading | 11p15.3 |
| AKIRIN1 | - | 1p34.3 |
| AKIRIN2 | positive regulation of cell proliferation; response to lipopolysaccharide; positive regulation of interleukin-6 production; innate immune response; embryo development; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 6q15 |
| AKNA | regulation of transcription, DNA-dependent | 9q32 |
| AKNAD1 | - | 1p13.3 |
| AKR1A1 | aldehyde catabolic process; glucose metabolic process; cellular aldehyde metabolic process; D-glucuronate catabolic process; L-ascorbic acid biosynthetic process | 1p33-p32 |
| AKR1B1 | carbohydrate metabolic process; C21-steroid hormone biosynthetic process; response to stress; steroid metabolic process; antibiotic metabolic process; small molecule metabolic process | 7q35 |
| AKR1B10 | antibiotic metabolic process; cellular aldehyde metabolic process; steroid metabolic process; digestion; farnesol catabolic 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 | antibiotic metabolic process; progesterone metabolic process; retinal metabolic process; cholesterol homeostasis; response to organophosphorus; bile acid and bile salt transport; bile acid metabolic process; cellular response to jasmonic acid stimulus; oxidation-reduction process; protein homooligomerization; intestinal cholesterol absorption; digestion; xenobiotic metabolic process | 10p15-p14 |
| AKR1C2 | cellular response to jasmonic acid stimulus; positive regulation of protein kinase B signaling cascade; progesterone metabolic process; response to prostaglandin stimulus; antibiotic metabolic process; positive regulation of cell proliferation; steroid metabolic process; digestion; G-protein coupled receptor signaling pathway; prostaglandin metabolic process; oxidation-reduction process | 10p15-p14 |
| AKR1C3 | positive regulation of cell death; cellular response to calcium ion; cellular response to cadmium ion; testosterone biosynthetic process; oxidation-reduction process; positive regulation of cell proliferation; positive regulation of protein kinase B signaling cascade; regulation of retinoic acid receptor signaling pathway; multicellular organismal macromolecule metabolic process; cellular response to starvation; farnesol catabolic process; retinal metabolic process; progesterone metabolic process; response to prostaglandin stimulus; cellular response to reactive oxygen species; keratinocyte differentiation; antibiotic metabolic process; cellular response to corticosteroid stimulus; cellular response to prostaglandin stimulus; positive regulation of reactive oxygen species metabolic process; positive regulation of endothelial cell apoptosis; protein import into nucleus, translocation; retinoic acid biosynthetic process; prostaglandin metabolic process; G-protein coupled receptor signaling pathway; response to | 10p15-p14 |
| AKR1C4 | bile acid and bile salt transport; antibiotic metabolic process; small molecule metabolic process; bile acid biosynthetic process; steroid metabolic process; bile acid metabolic process; androgen metabolic process; cellular response to jasmonic acid stimulus | 10p15.1 |
| AKR1C5P | - | - |
| AKR1C6P | - | 10p15.1 |
| AKR1C7P | - | 10p15.1 |
| AKR1C8P | - | 10p15.1 |
| AKR1D1 | androgen metabolic process; bile acid biosynthetic process; bile acid catabolic process; small molecule metabolic process; cholesterol catabolic process; digestion; oxidation-reduction process; bile acid metabolic process; C21-steroid hormone metabolic process | 7q32-q33 |
| AKR1E2 | - | 10p15.1 |
| AKR7A2 | cellular aldehyde metabolic process; carbohydrate metabolic process; antibiotic metabolic process | 1p36.13 |
| AKR7A2P1 | - | 1p12 |
| AKR7A3 | cellular aldehyde metabolic process | 1p36.13 |
| AKR7L | - | 1p36.13|1p35-p36.1 |
| AKT1 | insulin-like growth factor receptor signaling pathway; negative regulation of release of cytochrome c from mitochondria; positive regulation of establishment of protein localization in plasma membrane; response to UV-A; mammary gland epithelial cell differentiation; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of nitric-oxide synthase activity; regulation of nitric-oxide synthase activity; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; regulation of translation; positive regulation of lipid biosynthetic process; protein autophosphorylation; regulation of G1/S transition checkpoint; protein import into nucleus, translocation; positive regulation of protein phosphorylation; carbohydrate metabolic process; regulation of glycogen biosynthetic process; negative regulation of protein kinase activity; activation-induced cell death of T cells; anti-apoptosis; apoptotic process; transport; nitric oxide biosynthetic pro | 14q32.32 |
| AKT1S1 | phosphatidylinositol-mediated signaling; fibroblast growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; negative regulation of protein kinase activity; nerve growth factor receptor signaling pathway; negative regulation of TOR signaling cascade; regulation of survival gene product expression; negative regulation of cell size; neuroprotection | 19q13.33 |
| AKT2 | multicellular organismal development; positive regulation of cell motility; regulation of cell cycle arrest; cellular response to chemical stimulus; positive regulation of signal transduction; 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; positive regulation of sodium ion transport; negative regulation of plasma membrane long-chain fatty acid transport; positive regulation of gene expression; positive regulation of positive chemotaxis; carbohydrate transport; insulin receptor signaling pathway; signal transduction; response to osmotic stress; transport; protein modification process; regulation of translation; carbohydrate metabolic process; cellular response to hormone stimulus; mammary gland epithelial cell differentiation; regulation of JNK cascade; positive regulation of glucose import; positive regulation of transcription from RNA polymera | 19q13.1-q13.2 |
| AKT3 | signal transduction; protein phosphorylation; mitochondrial genome maintenance | 1q44 |
| AKTIP | protein transport; endosome to lysosome transport; early endosome to late endosome transport; positive regulation of protein binding; lysosome organization; endosome organization; apoptotic process; positive regulation of protein phosphorylation | 16q12.2 |
| ALAD | protein homooligomerization; small molecule metabolic process; heme biosynthetic process; porphyrin-containing compound metabolic process | 9q33.1 |
| ALAS1 | tetrapyrrole biosynthetic process; porphyrin-containing compound metabolic process; heme biosynthetic process; biosynthetic process; cellular lipid metabolic process; small molecule metabolic process | 3p21.1 |
| ALAS2 | oxygen homeostasis; response to hypoxia; porphyrin-containing compound metabolic process; heme biosynthetic process; cellular iron ion homeostasis; biosynthetic process; erythrocyte differentiation; tetrapyrrole biosynthetic process; hemoglobin biosynthetic process; small molecule metabolic process | Xp11.21 |
| ALB | small molecule metabolic process; platelet degranulation; lipid metabolic process; transport; response to stress; response to nutrient; sodium-independent organic anion transport; blood coagulation; bile acid metabolic process; platelet activation; response to platinum ion; negative regulation of programmed cell death; negative regulation of apoptotic process; lipoprotein metabolic process; hemolysis by symbiont of host erythrocytes; bile acid and bile salt transport; response to organic substance; cellular response to starvation; transmembrane transport; maintenance of mitochondrion location; response to mercury ion; positive regulation of circadian sleep/wake cycle, non-REM sleep | 4q13.3 |
| ALCAM | motor axon guidance; axon guidance; signal transduction; cell adhesion | 3q13.1 |
| ALDH16A1 | - | 19q13.33 |
| ALDH18A1 | cellular nitrogen compound metabolic process; small molecule metabolic process; cellular amino acid biosynthetic process; proline biosynthetic process | 10q24.3 |
| ALDH1A1 | positive regulation of Ras GTPase activity; ethanol oxidation; cellular aldehyde metabolic process; xenobiotic metabolic process; small molecule metabolic process | 9q21.13 |
| ALDH1A2 | pituitary gland development; blood vessel development; kidney development; liver development; regulation of endothelial cell proliferation; heart morphogenesis; vitamin A metabolic process; positive regulation of cell proliferation; midgut development; embryonic camera-type eye development; pancreas development; response to estradiol stimulus; response to vitamin A; response to cytokine stimulus; embryonic forelimb morphogenesis; hindbrain development; forebrain development; lung development; neuron differentiation; neural tube development; retinoic acid metabolic process; retinal metabolic process; neural crest cell development; negative regulation of cell proliferation; determination of bilateral symmetry; anterior/posterior pattern specification; proximal/distal pattern formation; cellular response to retinoic acid; face development; positive regulation of gene expression; retinoic acid receptor signaling pathway; positive regulation of apoptotic process; 9-cis-retinoic acid biosynthetic process; embryonic | 15q21.3 |
| ALDH1A3 | retinoic acid biosynthetic process; face development; olfactory pit development; embryonic eye morphogenesis; positive regulation of apoptotic process; retinoic acid metabolic process; retinal metabolic process; kidney development; optic cup morphogenesis involved in camera-type eye development; nucleus accumbens development; pituitary gland development; embryonic camera-type eye development; response to drug | 15q26.3 |
| ALDH1B1 | carbohydrate metabolic process | 9p11.1 |
| ALDH1L1 | 10-formyltetrahydrofolate catabolic process; biosynthetic process | 3q21.3 |
| ALDH1L2 | 10-formyltetrahydrofolate catabolic process; biosynthetic process | 12q23.3 |
| ALDH2 | ethanol oxidation; xenobiotic metabolic process; synaptic transmission; neurotransmitter biosynthetic process; small molecule metabolic process; alcohol metabolic process; carbohydrate metabolic process | 12q24.2 |
| ALDH3A1 | response to glucocorticoid stimulus; positive regulation of cell proliferation; response to nutrient; response to organic cyclic compound; aging; cellular aldehyde metabolic process; response to hypoxia; response to drug; response to cAMP; oxidation-reduction process | 17p11.2 |
| ALDH3A2 | oxidation-reduction process; cellular aldehyde metabolic process | 17p11.2 |
| ALDH3B1 | oxidation-reduction process; aldehyde catabolic process; cellular response to oxidative stress; lipid metabolic process; alcohol metabolic process | 11q13 |
| ALDH3B2 | lipid metabolic process; cellular aldehyde metabolic process; alcohol metabolic process | 11q13 |
| ALDH4A1 | proline catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process; proline biosynthetic process; proline metabolic process | 1p36 |
| ALDH5A1 | synaptic transmission; central nervous system development; glutathione metabolic process; galactosylceramide metabolic process; glycerophospholipid metabolic process; glutamine metabolic process; glutamate metabolic process; succinate metabolic process; acetate metabolic process; glucose metabolic process; neurotransmitter secretion; protein homotetramerization; short-chain fatty acid metabolic process; neurotransmitter catabolic process; respiratory electron transport chain; gamma-aminobutyric acid catabolic process | 6p22 |
| ALDH6A1 | small molecule metabolic process; valine metabolic process; branched chain family amino acid catabolic process; thymine metabolic process; cellular nitrogen compound metabolic process | 14q24.3 |
| ALDH7A1 | cellular aldehyde metabolic process; lysine catabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; sensory perception of sound | 5q31 |
| ALDH7A1P1 | - | 5q14 |
| ALDH7A1P3 | - | 7q36 |
| ALDH8A1 | retinoic acid metabolic process; retinal metabolic process; 9-cis-retinoic acid biosynthetic process | 6q23.2 |
| ALDH9A1 | small molecule metabolic process; kidney development; liver development; cellular aldehyde metabolic process; cellular nitrogen compound metabolic process; neurotransmitter biosynthetic process; hormone metabolic process; carnitine biosynthetic process; oxidation-reduction process | 1q23.1 |
| ALDOA | platelet activation; ATP biosynthetic process; striated muscle contraction; actin filament organization; blood coagulation; regulation of cell shape; small molecule metabolic process; fructose 1,6-bisphosphate metabolic process; platelet degranulation; carbohydrate metabolic process; fructose metabolic process; glucose metabolic process; gluconeogenesis; glycolysis; muscle cell homeostasis; protein homotetramerization | 16p11.2 |
| ALDOAP2 | - | 10q26.13 |
| ALDOB | carbohydrate metabolic process; fructose metabolic process; vacuolar proton-transporting V-type ATPase complex assembly; small molecule metabolic process; positive regulation of ATPase activity; fructose 1,6-bisphosphate metabolic process; NADH oxidation; glycolysis; gluconeogenesis; glucose metabolic process; fructose catabolic process | 9q21.3-q22.2 |
| ALDOC | organ regeneration; small molecule metabolic process; response to hypoxia; carbohydrate metabolic process; fructose metabolic process; glucose metabolic process; gluconeogenesis; protein heterotetramerization; protein homotetramerization; fructose 1,6-bisphosphate metabolic process; response to organic cyclic compound; response to organic nitrogen; aging; apoptotic process; glycolysis | 17cen-q12 |
| ALG1 | cellular protein metabolic process; protein N-linked glycosylation via asparagine; lipopolysaccharide biosynthetic process; dolichol-linked oligosaccharide biosynthetic process; protein glycosylation; post-translational protein modification | 16p13.3 |
| ALG10 | dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 12p11.1 |
| ALG10B | cellular protein metabolic process; post-translational protein modification; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine | 12q12 |
| ALG11 | cellular protein metabolic process; biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification; dolichol-linked oligosaccharide biosynthetic process | 13q14.2 |
| ALG12 | GPI anchor biosynthetic process; post-translational protein modification; cellular protein metabolic process; protein folding; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation; protein N-linked glycosylation via asparagine | 22q13.33 |
| ALG13 | protein N-linked glycosylation via asparagine; cellular protein metabolic process; post-translational protein modification; lipid glycosylation; dolichol-linked oligosaccharide biosynthetic process; carbohydrate metabolic process | Xq23 |
| ALG14 | dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 1p21.3 |
| ALG1L | - | 3q21.2 |
| ALG1L15P | - | 3q25.31 |
| ALG1L2 | - | 3q22.1 |
| ALG1L3P | - | 4p16.1 |
| ALG1L5P | - | 7p22.1 |
| ALG1L6P | - | 3p12.3 |
| ALG1L9P | - | 11q13.4 |
| ALG2 | protein N-linked glycosylation via asparagine; protein glycosylation in endoplasmic reticulum; post-translational protein modification; cellular protein metabolic process; biosynthetic process; dolichol-linked oligosaccharide biosynthetic process; response to calcium ion | 9q22.33 |
| ALG3 | post-translational protein modification; protein glycosylation; dolichol-linked oligosaccharide biosynthetic process; cellular protein metabolic process; protein N-linked glycosylation via asparagine | 3q27.1 |
| ALG3P1 | - | 5p15.32 |
| ALG5 | post-translational protein modification; dolichol-linked oligosaccharide biosynthetic process; protein glycosylation; protein N-linked glycosylation via asparagine; determination of left/right symmetry; cellular protein metabolic process | 13q13.3 |
| ALG6 | post-translational protein modification; protein N-linked glycosylation; dolichol-linked oligosaccharide biosynthetic process; cellular protein metabolic process; protein N-linked glycosylation via asparagine | 1p31.3 |
| ALG8 | protein N-linked glycosylation; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 11q14.1 |
| ALG9 | GPI anchor biosynthetic process; cellular protein metabolic process; post-translational protein modification; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine | 11q23 |
| ALK | signal transduction; activation of MAPK activity; transmembrane receptor protein tyrosine kinase signaling pathway; cell proliferation; phosphorylation; NIK/NF-kappaB cascade; regulation of apoptotic process; protein autophosphorylation; neuron development; positive regulation of NF-kappaB transcription factor activity | 2p23 |
| ALKBH1 | neuron migration; regulation of gene expression; placenta development; DNA dealkylation involved in DNA repair; DNA repair; cell differentiation; neuron projection development; RNA repair; in utero embryonic development; DNA demethylation; oxidative demethylation; developmental growth; neuroprotection | 14q24.3 |
| ALKBH2 | oxidative DNA demethylation; DNA demethylation; oxidative demethylation; DNA dealkylation involved in DNA repair; DNA repair | 12q24.11 |
| ALKBH3 | oxidative single-stranded DNA demethylation; DNA demethylation; DNA dealkylation involved in DNA repair; DNA repair | 11p11.2 |
| ALKBH4 | - | 7q22.1 |
| ALKBH5 | - | 17p11.2|17p11.2 |
| ALKBH6 | - | 19q13.12 |
| ALKBH7 | - | 19p13.3 |
| ALKBH8 | tRNA methylation; response to DNA damage stimulus | 11q22.3 |
| ALLC | - | 2q35 |
| ALMS1 | triglyceride metabolic process; calcium-mediated signaling; epithelial cell proliferation; cilium assembly; glucose homeostasis; cholesterol homeostasis; G2/M transition of mitotic cell cycle; mitotic cell cycle; lipid metabolic process; sensory perception of sound; spermatid development; apoptotic process; regulation of fat cell differentiation; retinal rod cell development; developmental growth | 2p13 |
| ALMS1-IT1 | - | - |
| ALMS1P | - | 2p13.1 |
| ALOX12 | anti-apoptosis; positive regulation of mitochondrial depolarization; cellular component movement; positive regulation of cell proliferation; positive regulation of endothelial cell migration; positive regulation of gene expression; leukotriene biosynthetic process; fatty acid oxidation; positive regulation of cell growth; negative regulation of cell killing; 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 | 17p13.1 |
| ALOX12-AS1 | - | - |
| ALOX12B | leukotriene biosynthetic process; lipid metabolic process; epidermis development | 17p13.1 |
| ALOX12P1 | - | 17q11 |
| ALOX12P2 | - | 17p13 |
| ALOX15 | inflammatory response; lipid metabolic process; bone mineralization; leukotriene biosynthetic process; lipoxygenase pathway | 17p13.3 |
| ALOX15B | lipid metabolic process; 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 | 17p13.1 |
| ALOX15P2 | - | 9q22.31 |
| ALOX5 | prostanoid 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; leukotriene metabolic process; leukotriene production involved in inflammatory response; acute inflammatory response | 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 | skeletal system development; biomineral tissue development; response to lipopolysaccharide; response to vitamin D; response to antibiotic; response to glucocorticoid stimulus; cellular response to organic cyclic compound; cementum mineralization | 1p36.12 |
| ALPP | - | 2q37 |
| ALS2 | positive regulation of Rac GTPase activity; neuron projection morphogenesis; regulation of endosome size; positive regulation of protein kinase activity; regulation of Rho protein signal transduction; positive regulation of Rac protein signal transduction; positive regulation of protein serine/threonine kinase activity; cell death; axonogenesis; endosome organization; in utero embryonic development | 2q33.1 |
| ALS2CL | regulation of Rho protein signal transduction; endosome organization | 3p21.31 |
| ALS2CR11 | - | 2q33.1 |
| ALS2CR12 | regulation of GTPase activity | 2q33.1 |
| ALX1 | positive regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; brain development; multicellular organismal development; regulation of transcription, DNA-dependent; cartilage condensation; negative regulation of transcription from RNA polymerase II promoter | 12q21.31 |
| ALX3 | multicellular organismal development | 1p13.3 |
| ALX4 | muscle organ development; hair follicle development; skeletal system development; palate development; pattern specification process; embryonic hindlimb morphogenesis; embryonic digit morphogenesis; regulation of apoptotic process; embryonic forelimb morphogenesis; limb morphogenesis; anterior/posterior pattern specification; post-embryonic development; positive regulation of transcription from RNA polymerase II promoter; digestive tract development; embryonic skeletal system morphogenesis | 11p11.2 |
| ALYREF | intronless viral mRNA export from host nucleus; interspecies interaction between organisms; mRNA 3'-end processing; gene expression; transport; mRNA export from nucleus; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; RNA splicing | 17q25.3 |
| AMACR | bile acid biosynthetic process; small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; bile acid metabolic process | 5p13 |
| AMBN | odontogenesis of dentin-containing tooth; bone mineralization; cell proliferation; cell adhesion | 4q21 |
| AMBP | heme catabolic process; negative regulation of JNK cascade; protein-chromophore linkage; female pregnancy; cell adhesion; interspecies interaction between organisms; negative regulation of immune response | 9q32-q33 |
| AMBRA1 | cell differentiation; nervous system development; multicellular organismal development; autophagy | 11p11.2 |
| AMD1 | polyamine metabolic process; spermine biosynthetic process; spermidine biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 6q21 |
| AMDHD1 | cellular nitrogen compound metabolic process; histidine catabolic process; histidine catabolic process to glutamate and formamide; small molecule metabolic process | 12q23.1 |
| AMDHD2 | N-acetylglucosamine metabolic process; carbohydrate metabolic process | 16p13.3 |
| AMER1 | - | Xq11.2 |
| AMER2 | - | 13q12.13 |
| AMER3 | - | 2q21.1 |
| AMFR | cellular component movement; protein oligomerization; endoplasmic reticulum unfolded protein response; ER-associated protein catabolic process; protein ubiquitination; learning or memory; aging; signal transduction; ubiquitin-dependent protein catabolic process; protein polyubiquitination | 16q21 |
| AMH | preantral ovarian follicle growth; urogenital system development; 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 differentiation; sex determination; gonadal mesoderm development; cell-cell signaling; Mullerian duct regression | 19p13.3 |
| AMHR2 | Mullerian duct regression; signal transduction; transforming growth factor beta receptor signaling pathway; sex differentiation | 12q13 |
| AMIGO1 | axonal fasciculation; nervous system development; multicellular organismal development; heterophilic cell-cell adhesion; homophilic cell adhesion; cell adhesion; cell differentiation; myelination; positive regulation of axonogenesis | 1p13.3 |
| AMIGO2 | cell adhesion; negative regulation of programmed cell death; heterophilic cell-cell adhesion; homophilic cell adhesion; anti-apoptosis | 12q13.11 |
| AMIGO3 | heterophilic cell-cell adhesion; cell adhesion | 3p21 |
| AMMECR1 | - | Xq22.3 |
| AMMECR1L | - | 2q21 |
| AMMECR1LP1 | - | - |
| AMN | lipid metabolic process; small molecule metabolic process; lipoprotein metabolic process; protein localization; excretion; multicellular organismal development | 14q32.3 |
| AMN1 | - | 12p11.21 |
| AMOT | chemotaxis; gastrulation with mouth forming second; in utero embryonic development; cell-cell junction assembly; negative regulation of angiogenesis; vasculogenesis; regulation of cell migration; cellular protein localization; positive regulation of stress fiber assembly; positive regulation of cell size; positive regulation of blood vessel endothelial cell migration; negative regulation of vascular permeability; hippo signaling cascade; cell migration involved in gastrulation; positive regulation of embryonic development; actin cytoskeleton organization | Xq23 |
| AMOTL1 | - | 11q14.3 |
| AMOTL2 | - | 3q21-q22 |
| AMPD1 | nucleotide metabolic process; purine-containing compound salvage; purine base metabolic process; IMP biosynthetic process; nucleobase-containing small molecule metabolic process; small molecule 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 | nucleobase-containing small molecule metabolic process; small molecule metabolic process; purine-containing compound salvage; purine base metabolic process; IMP biosynthetic process; AMP catabolic process; nucleotide metabolic process | 11p15 |
| AMPH | positive regulation of GTPase activity; positive regulation of endocytosis; endocytosis; synaptic transmission; learning; 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 | small molecule metabolic process; polysaccharide digestion; carbohydrate catabolic process; carbohydrate metabolic process | 1p21 |
| AMZ1 | proteolysis | 7p22.3 |
| AMZ2 | proteolysis | 17q24.2 |
| AMZ2P1 | - | 17q24.1 |
| ANAPC1 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; 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; cell division; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mitotic cell cycle spindle assembly checkpoint; mitosis; mitotic cell cycle; cell cycle checkpoint | 2q12.1 |
| ANAPC10 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; ubiquitin-dependent protein catabolic process; mitosis; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; mitotic cell cycle; mitotic anaphase; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; mitotic cell cycle spindle assembly checkpoint; G2/M transition of mitotic cell cycle; cell cycle checkpoint; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; regulation of mitotic metaphase/anaphase transition | 4q31 |
| ANAPC11 | 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; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; cell cycle checkpoint | 17q25.3 |
| ANAPC13 | cell cycle; mitosis; cell division; protein K11-linked ubiquitination | 3q22.2 |
| ANAPC15 | - | 11q13.4 |
| ANAPC16 | cell cycle; cell division; mitosis; protein ubiquitination | 10q22.1 |
| ANAPC1P1 | - | 2p11.2 |
| ANAPC2 | cell cycle checkpoint; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; regulation of cyclin-dependent protein kinase activity; mitotic cell cycle; ubiquitin-dependent protein catabolic process; mitosis; mitotic cell cycle spindle assembly checkpoint; nervous system development; cyclin catabolic process; protein ubiquitination; cell differentiation; positive regulation of synapse maturation; 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 | 9q34.3 |
| ANAPC4 | cell cycle checkpoint; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of mitotic metaphase/anaphase transition; protein ubiquitination; mitotic cell cycle spindle assembly checkpoint; mitosis; ubiquitin-dependent protein catabolic process; mitotic cell cycle; mitotic anaphase; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; G2/M transition of mitotic cell cycle; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell division; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle | 4p15.2 |
| ANAPC5 | cell cycle checkpoint; G2/M transition of mitotic cell cycle; protein K11-linked ubiquitination; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; mitotic anaphase; mitotic cell cycle; ubiquitin-dependent 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; mitotic cell cycle spindle assembly checkpoint; protein ubiquitination; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell division | 12q24.31 |
| ANAPC7 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; cell cycle checkpoint; mitotic cell cycle; mitosis; mitotic cell cycle spindle assembly checkpoint; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell division; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle | 12q24.11 |
| ANG | oocyte maturation; positive regulation of protein secretion; negative regulation of smooth muscle cell proliferation; homeostatic process; positive regulation of phosphorylation; activation of phospholipase A2 activity; cell differentiation; angiogenesis; ovarian follicle development; response to hypoxia; placenta development; positive regulation of endothelial cell proliferation; diacylglycerol biosynthetic process; cell communication; activation of phospholipase C activity; multicellular organismal development; metabolic process; cell death; rRNA transcription; response to hormone stimulus; cell migration; negative regulation of translation; actin filament polymerization; activation of protein kinase B activity | 14q11.1-q11.2 |
| ANGEL1 | - | 14q24.3 |
| ANGEL2 | - | 1q32.3 |
| ANGPT1 | positive regulation of receptor internalization; negative regulation of endothelial cell apoptosis; positive regulation of ERK1 and ERK2 cascade; positive regulation of protein kinase B signaling cascade; positive chemotaxis; leukocyte migration; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of blood vessel endothelial cell migration; Tie receptor signaling pathway; heparin biosynthetic process; cell differentiation; 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; sprouting angiogenesis; regulation of endothelial cell proliferation; positive regulation of protein ubiquitination; protein localization at cell surface; negative regulation of apoptotic process; negative regulation of vascular permeability | 8q23.1 |
| ANGPT2 | maternal process involved in female pregnancy; negative regulation of positive chemotaxis; leukocyte migration; Tie receptor signaling pathway; negative regulation of blood vessel endothelial cell migration; response to hypoxia; signal transduction; multicellular organismal development; germ cell development; blood coagulation; response to radiation; response to mechanical stimulus; response to glucose stimulus; negative regulation of cell-substrate adhesion; response to organic cyclic compound; response to activity; negative regulation of angiogenesis; cell differentiation; organ regeneration; positive regulation of angiogenesis | 8p23.1 |
| ANGPT4 | negative regulation of angiogenesis; positive regulation of endothelial cell migration; 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; blood coagulation; activation of transmembrane receptor protein tyrosine kinase activity; endothelial cell proliferation; anti-apoptosis; signal transduction | 20p13 |
| ANGPTL1 | signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway | 1q25.2 |
| ANGPTL2 | signal transduction; multicellular organismal development | 9q34 |
| ANGPTL3 | lipid homeostasis; cell-matrix adhesion; 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; positive regulation of angiogenesis; cholesterol metabolic process; integrin-mediated signaling pathway; signal transduction; phospholipid metabolic process; fatty acid metabolic process; glycerol metabolic process; artery morphogenesis; acylglycerol homeostasis; positive regulation of lipid catabolic process; negative regulation of lipoprotein lipase activity; phospholipid homeostasis; triglyceride homeostasis | 1p31.3 |
| ANGPTL4 | response to hypoxia; small molecule metabolic process; triglyceride homeostasis; protein homooligomerization; negative regulation of lipoprotein lipase activity; positive regulation of angiogenesis; cellular lipid metabolic process; signal transduction; multicellular organismal development; cell differentiation; negative regulation of apoptotic process; negative regulation of catalytic activity | 19p13.3 |
| ANGPTL5 | signal transduction | 11q22.1 |
| ANGPTL6 | multicellular organismal development; signal transduction; angiogenesis; cell differentiation | 19p13.2 |
| ANGPTL7 | signal transduction; response to oxidative stress | 1p36 |
| ANGPTL8 | - | 19p13.2 |
| ANHX | - | 12q24.33 |
| ANK1 | maintenance of epithelial cell apical/basal polarity; axon guidance; signal transduction; cytoskeleton organization; exocytosis | 8p11.1 |
| ANK2 | axon guidance; signal transduction | 4q25-q27 |
| ANK3 | establishment of protein localization; signal transduction | 10q21 |
| ANKAR | - | 2q32.2 |
| ANKDD1A | signal transduction | 15q22.31 |
| ANKDD1B | signal transduction | 5q13.3 |
| ANKEF1 | - | 20p12.2 |
| ANKFN1 | - | 17q22 |
| ANKFY1 | - | 17p13.3 |
| ANKH | inorganic diphosphate transport; skeletal system development; regulation of bone mineralization; locomotory behavior; 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 | positive regulation of protein secretion; negative regulation of DNA biosynthetic process; cellular response to transforming growth factor beta stimulus; cellular response to tumor necrosis factor; response to muscle stretch; cellular response to interleukin-1; cellular response to mechanical stimulus; cellular response to lipopolysaccharide; cardiac muscle tissue morphogenesis; positive regulation of transcription from RNA polymerase II promoter; sarcomere organization; small molecule metabolic process; positive regulation of apoptotic process; positive regulation of DNA damage response, signal transduction by p53 class mediator; cellular lipid metabolic process | 10q23.31 |
| ANKRD10 | - | 13q34 |
| ANKRD10-IT1 | - | - |
| ANKRD11 | tissue homeostasis; skeletal system morphogenesis; head morphogenesis; bone development; multicellular organism growth; in utero embryonic development | 16q24.3 |
| ANKRD12 | - | 18p11.22 |
| ANKRD13A | - | 12q24.11 |
| ANKRD13B | - | 17q11.2 |
| ANKRD13C | regulation of receptor biosynthetic process; protein retention in ER lumen; 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 | cell cycle; regulation of intracellular protein kinase cascade; positive regulation of erythrocyte differentiation; regulation of protein kinase activity; nucleocytoplasmic transport | 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 | substrate-dependent cell migration; ephrin receptor signaling pathway; 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; mitosis; cell cycle; septin ring assembly; cytokinesis | 7p15-p14 |
| ANO1 | multicellular organismal development; chloride transport; ion transmembrane transport; trachea development | 11q13.3 |
| ANO1-AS1 | - | - |
| ANO10 | cell death; ion transport | 3p22.1 |
| ANO2 | ion transport; chloride transport; ion transmembrane transport | 12p13.3 |
| ANO3 | ion transport | 11p14.2 |
| ANO4 | ion transport | 12q23.1 |
| ANO5 | ion transport | 11p14.3 |
| ANO6 | phosphatidylserine exposure on blood platelet; ion transport; activation of blood coagulation via clotting cascade | 12q12 |
| ANO7 | ion transport | 2q37.3 |
| ANO8 | ion transport | 19p13.11 |
| ANO9 | ion transport | 11p15.5 |
| ANOS1 | cellular component movement; chemotaxis; cell adhesion; axon guidance | Xp22.32 |
| ANP32A | mRNA metabolic process; intracellular signal transduction; regulation of transcription, DNA-dependent; nucleocytoplasmic transport; gene expression; RNA metabolic process | 15q23 |
| ANP32A-IT1 | - | 15q23 |
| ANP32AP1 | - | 15q14 |
| ANP32B | - | 9q22.32 |
| ANP32BP2 | - | 22q13.31 |
| ANP32D | - | 12q13.11 |
| ANP32E | negative regulation of catalytic activity | 1q21.2 |
| ANPEP | angiogenesis; interspecies interaction between organisms; negative regulation of renal sodium excretion; cell differentiation; metabolic process; multicellular organismal development; cellular aromatic compound metabolic process; proteolysis | 15q25-q26 |
| ANTXR1 | actin cytoskeleton reorganization; substrate adhesion-dependent cell spreading | 2p13.1 |
| ANTXR2 | - | 4q21.21 |
| ANTXRL | - | 10q11.22 |
| ANTXRLP1 | - | 10q11.22 |
| ANXA1 | cell surface receptor signaling pathway; keratinocyte differentiation; insulin secretion; peptide cross-linking; response to organic cyclic compound; response to X-ray; response to peptide hormone stimulus; 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; 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 interleukin-1; cell cycle; inflammatory response; cellular component movement; anti-apoptosis; lipid metabolic process; negative regulation of acute inflammatory response; signal transduction | 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; skeletal system development; body fluid secretion; collagen fibril organization; positive regulation of vesicle fusion; fibrinolysis; positive regulation of binding; cellular response to acid | 15q22.2 |
| ANXA2P1 | - | 4q31.3 |
| ANXA2P2 | cellular response to acid; body fluid secretion; collagen fibril organization; fibrinolysis; angiogenesis; positive regulation of binding | 9p13 |
| ANXA2P3 | - | 10q21.3 |
| ANXA2R | - | 5p12 |
| ANXA3 | 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; phagocytosis; positive regulation of endothelial cell migration; hippocampus development; organ regeneration | 4q21.21 |
| ANXA4 | negative regulation of coagulation; signal transduction; anti-apoptosis | 2p13 |
| ANXA5 | signal transduction; anti-apoptosis; blood coagulation; response to organic substance; positive regulation of apoptotic process; negative regulation of coagulation; protein homooligomerization | 4q27 |
| ANXA6 | calcium ion transport; regulation of muscle contraction | 5q33.1 |
| ANXA7 | cellular calcium ion homeostasis; hemostasis; cell proliferation; regulation of cell shape; response to salt stress; cellular water homeostasis; social behavior | 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; regulation of defense response to virus by virus; cellular membrane organization; viral reproduction; endocytosis | 22q12.2 |
| AP1B1P1 | - | 22q12.3 |
| AP1B1P2 | - | 22q12.3 |
| AP1G1 | intracellular protein transport; viral reproduction; endocytosis; post-Golgi vesicle-mediated transport; cellular membrane organization; regulation of defense response to virus by virus | 16q23 |
| AP1G2 | intracellular protein transport; interspecies interaction between organisms; vesicle-mediated transport | 14q11.2 |
| AP1M1 | cellular membrane organization; regulation of defense response to virus by virus; interspecies interaction between organisms; endosome to melanosome transport; melanosome organization; vesicle-mediated transport; viral reproduction; post-Golgi vesicle-mediated transport; intracellular protein transport | 19p13.12 |
| AP1M2 | vesicle targeting; protein targeting; post-Golgi vesicle-mediated transport; viral reproduction; cellular membrane organization; regulation of defense response to virus by virus | 19p13.2 |
| AP1S1 | intracellular protein transport; post-Golgi vesicle-mediated transport; receptor-mediated endocytosis; response to virus; viral reproduction; cellular membrane organization; regulation of defense response to virus by virus | 7q22.1 |
| AP1S2 | intracellular protein transport; post-Golgi vesicle-mediated transport; endocytosis; viral reproduction; cellular membrane organization; regulation of defense response to virus by virus | Xp22.2 |
| AP1S3 | cellular membrane organization; viral reproduction; endocytosis; intracellular protein transport; post-Golgi vesicle-mediated transport; regulation of defense response to virus by virus | 2q36.1 |
| AP2A1 | endocytosis; negative regulation of epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; axon guidance; synaptic transmission; epidermal growth factor receptor signaling pathway; Golgi to endosome transport; intracellular protein transport; regulation of defense response to virus by virus; viral reproduction | 19q13.33 |
| AP2A2 | intracellular protein transport; negative regulation of epidermal growth factor receptor signaling pathway; regulation of defense response to virus by virus; viral reproduction; axon guidance; synaptic transmission; epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; endocytosis | 11p15.5 |
| AP2B1 | negative regulation of epidermal growth factor receptor signaling pathway; vesicle-mediated transport; viral reproduction; epidermal growth factor receptor signaling pathway; intracellular protein transport; nerve growth factor receptor signaling pathway; regulation of defense response to virus by virus; synaptic transmission; axon guidance | 17q11.2-q12 |
| AP2M1 | negative regulation of epidermal growth factor receptor signaling pathway; vesicle-mediated transport; nerve growth factor receptor signaling pathway; cellular membrane organization; viral reproduction; axon guidance; synaptic transmission; epidermal growth factor receptor signaling pathway; intracellular protein transport; transport; regulation of defense response to virus by virus | 3q28 |
| AP2S1 | vesicle-mediated transport; regulation of endocytosis; negative regulation of epidermal growth factor receptor signaling pathway; clathrin coat assembly; viral reproduction; protein transport; axon guidance; synaptic transmission; epidermal growth factor receptor signaling pathway; intracellular protein transport; transport; regulation of defense response to virus by virus; nerve growth factor receptor signaling pathway | 19q13.2-q13.3 |
| AP3B1 | antigen processing and presentation, exogenous lipid antigen via MHC class Ib; endocytosis; blood coagulation; antigen processing and presentation; melanosome organization; protein targeting to lysosome; positive regulation of NK T cell differentiation; intracellular protein transport | 5q14.1 |
| AP3B2 | endocytosis; post-Golgi vesicle-mediated transport; intracellular protein transport | 15q |
| AP3D1 | eye pigment biosynthetic process; intracellular protein transport; vesicle-mediated transport; antigen processing and presentation; 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 | intracellular protein transport; vesicle-mediated transport | 8p11.2 |
| AP3S1 | transport; intracellular protein transport; insulin receptor signaling pathway; vesicle-mediated transport | 5q22 |
| AP3S2 | intracellular protein transport; vesicle-mediated transport | 15q26.1 |
| AP4B1 | intracellular protein transport; vesicle-mediated transport; transport | 1p13.2 |
| AP4B1-AS1 | - | 1p13.2 |
| AP4E1 | intracellular protein transport; vesicle-mediated transport | 15q21.2 |
| AP4M1 | intracellular protein transport; vesicle-mediated transport | 7q22.1 |
| AP4S1 | transport | 14q12 |
| AP5B1 | protein transport | 11q13.1 |
| AP5M1 | intracellular protein transport; vesicle-mediated transport | 14q22.3 |
| AP5S1 | DNA repair; double-strand break repair via homologous recombination | 20p13 |
| AP5Z1 | DNA repair; double-strand break repair via homologous recombination; cell death | 7p22.2 |
| APAF1 | apoptotic process; 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; intrinsic apoptotic signaling pathway; regulation of apoptotic process | 12q23 |
| APBA1 | in utero embryonic development; protein complex assembly; intracellular protein transport; cell adhesion; synaptic transmission; nervous system development; locomotory behavior; 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 | in utero embryonic development; synaptic transmission; regulation of gene expression; protein transport; intracellular signal transduction | 19p13.3 |
| APBB1 | negative regulation of thymidylate synthase biosynthetic process; regulation of transcription, DNA-dependent; response to DNA damage stimulus; cell cycle arrest; signal transduction; positive regulation of transcription, DNA-dependent; negative regulation of S phase of mitotic cell cycle; histone H4 acetylation; positive regulation of apoptotic process; negative regulation of cell growth; chromatin modification; axonogenesis | 11p15 |
| APBB1IP | blood coagulation; signal transduction; platelet activation | 10p12.1 |
| APBB2 | intracellular signal transduction; regulation of transcription, DNA-dependent; cell cycle arrest; negative regulation of cell growth; negative regulation of S phase of mitotic cell cycle | 4p13 |
| APC | axis specification; negative regulation of canonical Wnt receptor signaling pathway; cell migration; response to DNA damage stimulus; negative regulation of microtubule depolymerization; cell cycle arrest; mitotic metaphase/anaphase transition; mitotic cell cycle spindle assembly checkpoint; cell adhesion; establishment or maintenance of cell polarity; axonogenesis; negative regulation of cell proliferation; anterior/posterior pattern specification; dorsal/ventral pattern formation; proximal/distal pattern formation; cellular component disassembly involved in apoptosis; positive regulation of cell migration; positive regulation of epithelial cell differentiation; pancreas development; positive regulation of microtubule polymerization; cytoplasmic microtubule organization; neuron projection development; positive regulation of pseudopodium assembly; regulation of microtubule-based process; T cell differentiation in thymus; regulation of cell cycle; chromosome organization; regulation of nitrogen compound metabo | 5q21-q22 |
| APC2 | negative regulation of catenin import into nucleus; negative regulation of canonical Wnt receptor signaling pathway; Wnt receptor signaling pathway | 19p13.3 |
| APCDD1 | negative regulation of Wnt receptor signaling pathway; hair follicle development | 18p11.22 |
| APCDD1L | - | 20q13.32 |
| APCDD1L-AS1 | - | 20q13.32 |
| APEH | proteolysis | 3p21.31 |
| APELA | - | 4q32 |
| APEX1 | DNA demethylation; oxidation-reduction process; positive regulation of anti-apoptosis; positive regulation of DNA repair; regulation of mRNA stability; regulation of transcription, DNA-dependent; DNA recombination; base-excision repair; DNA repair | 14q11.2 |
| APEX2 | DNA repair; DNA recombination; cell cycle | Xp11.21 |
| APH1A | metanephros development; Notch signaling pathway; protein processing; membrane protein intracellular domain proteolysis; amyloid precursor protein catabolic process; positive regulation of catalytic activity; nerve growth factor receptor signaling pathway; membrane protein ectodomain proteolysis; induction of apoptosis by extracellular signals; apoptotic process; Notch receptor processing; metabolic process | 1p36.13-q31.3 |
| APH1B | membrane protein intracellular domain proteolysis; apoptotic process; Notch signaling pathway; Notch receptor processing; induction of apoptosis by extracellular signals; protein processing; nerve growth factor receptor signaling pathway; positive regulation of catalytic activity | 15q22.2 |
| API5 | apoptotic process; anti-apoptosis | 11p11.2 |
| API5P1 | - | Xq24 |
| API5P2 | - | 2q31.2 |
| APIP | cellular nitrogen compound metabolic process; small molecule metabolic process; L-methionine salvage from methylthioadenosine; methionine biosynthetic process; cellular amino acid biosynthetic process; sulfur amino acid metabolic process; polyamine metabolic process; apoptotic process | 11p13 |
| APLF | response to DNA damage stimulus; double-strand break repair; single strand break repair | 2p13.3 |
| APLN | positive regulation of phosphorylation; positive regulation of cell proliferation; regulation of the force of heart contraction; positive regulation of corticotropin-releasing hormone secretion; positive regulation of corticotropin secretion; regulation of body fluid levels; positive regulation of vasodilation; negative regulation of vasoconstriction; negative regulation of blood pressure; regulation of respiratory gaseous exchange; immune response; signal transduction; lactation; positive regulation of heat generation; drinking behavior | Xq25 |
| APLNR | regulation of body fluid levels; G-protein coupled receptor signaling pathway | 11q12 |
| APLP1 | extracellular matrix organization; organ morphogenesis; cell death; nervous system development; inhibition of adenylate cyclase activity by G-protein signaling pathway; cell adhesion; apoptotic process; endocytosis; regulation of translation; mRNA polyadenylation; negative regulation of cAMP biosynthetic process; forebrain development; cellular response to norepinephrine stimulus | 19q13.1 |
| APLP2 | suckling behavior; cellular copper ion homeostasis; G-protein coupled receptor signaling pathway; mating behavior; locomotory behavior; embryo development; extracellular matrix organization; forebrain development; midbrain development; neuromuscular process controlling balance; regulation of epidermal growth factor-activated receptor activity | 11q24 |
| APMAP | - | 20p11.2 |
| APOA1 | high-density lipoprotein particle assembly; glucocorticoid metabolic process; positive regulation of cholesterol esterification; negative regulation of very-low-density lipoprotein particle remodeling; lipid storage; platelet activation; regulation of intestinal cholesterol absorption; cholesterol transport; adrenal gland development; Cdc42 protein signal transduction; cholesterol efflux; phospholipid efflux; high-density lipoprotein particle remodeling; cholesterol metabolic process; high-density lipoprotein particle clearance; lipoprotein metabolic process; lipoprotein biosynthetic process; cholesterol homeostasis; blood vessel endothelial cell migration; reverse cholesterol transport; 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; steroid metabolic process; cholesterol import; transmembrane transport; positive regulation of tr | 11q23-q24 |
| APOA1BP | - | 1q21 |
| APOA2 | negative regulation of lipid catabolic process; negative regulation of very-low-density lipoprotein particle remodeling; regulation of intestinal cholesterol absorption; organ regeneration; regulation of protein stability; negative regulation of cholesterol transport; cholesterol efflux; phospholipid efflux; triglyceride-rich lipoprotein particle remodeling; low-density lipoprotein particle remodeling; positive regulation of cholesterol esterification; high-density lipoprotein particle remodeling; high-density lipoprotein particle assembly; high-density lipoprotein particle clearance; lipoprotein metabolic process; response to drug; cholesterol homeostasis; response to estrogen stimulus; reverse cholesterol transport; cellular lipid metabolic process; small molecule metabolic process; interspecies interaction between organisms; positive regulation of interleukin-8 biosynthetic process; diacylglycerol catabolic process; phospholipid catabolic process; negative regulation of cholesterol transporter activity; ne | 1q23.3 |
| APOA4 | high-density lipoprotein particle remodeling; very-low-density lipoprotein particle remodeling; chylomicron remodeling; phospholipid efflux; cholesterol efflux; regulation of cholesterol transport; regulation of intestinal cholesterol absorption; chylomicron assembly; removal of superoxide radicals; protein-lipid complex assembly; lipid homeostasis; positive regulation of lipoprotein lipase activity; phosphatidylcholine metabolic process; positive regulation of fatty acid biosynthetic process; small molecule metabolic process; multicellular organismal lipid catabolic process; reverse cholesterol transport; negative regulation of plasma lipoprotein particle oxidation; hydrogen peroxide catabolic process; cholesterol homeostasis; lipoprotein metabolic process; response to stilbenoid; positive regulation of cholesterol esterification; cholesterol metabolic process; leukocyte cell-cell adhesion; response to lipid hydroperoxide; lipid transport; transport; lipid metabolic process; innate immune response in mucosa; | 11q23 |
| APOA5 | transport; organ regeneration; triglyceride homeostasis; acylglycerol homeostasis; positive regulation of lipoprotein lipase activity; positive regulation of lipid catabolic process; positive regulation of receptor-mediated endocytosis; positive regulation of fatty acid biosynthetic process; small molecule metabolic process; cellular lipid metabolic process; cholesterol homeostasis; tissue regeneration; lipoprotein metabolic process; triglyceride-rich lipoprotein particle remodeling; triglyceride catabolic process; positive regulation of very-low-density lipoprotein particle remodeling; positive regulation of triglyceride catabolic process; response to hormone stimulus; lipid transport; triglyceride metabolic process | 11q23 |
| APOB | very-low-density lipoprotein particle assembly; response to carbohydrate stimulus; low-density lipoprotein particle remodeling; response to lipopolysaccharide; sperm motility; cholesterol transport; lipid catabolic process; positive regulation of cholesterol storage; positive regulation of lipid storage; positive regulation of macrophage derived foam cell differentiation; response to selenium ion; post-embryonic development; triglyceride catabolic process; low-density lipoprotein particle clearance; lipoprotein metabolic process; lipoprotein biosynthetic process; lipoprotein catabolic process; cholesterol homeostasis; lipoprotein transport; small molecule metabolic process; regulation of cholesterol biosynthetic process; artery morphogenesis; leukocyte migration; cellular response to tumor necrosis factor; cellular response to prostaglandin stimulus; fertilization; in utero embryonic development; lipid metabolic process; triglyceride mobilization; transport; response to virus; receptor-mediated endocytosis; n | 2p24-p23 |
| APOBEC1 | regulation of cell proliferation; 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; mRNA modification; cellular response to insulin stimulus; lipoprotein biosynthetic process; response to drug; lipoprotein transport; response to ethanol; mRNA stabilization; response to calcium ion; defense response to virus; DNA demethylation; negative regulation of methylation-dependent chromatin silencing | 12p13.1 |
| APOBEC2 | DNA demethylation; mRNA modification; cytidine deamination; mRNA processing | 6p21 |
| APOBEC3A | DNA demethylation; innate immune response; defense response to virus; DNA cytosine deamination; negative regulation of viral genome replication; clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine; negative regulation of transposition; cytidine deamination; cellular response to xenobiotic stimulus | 22q13.1-q13.2 |
| APOBEC3B | negative regulation of transposition | 22q13.1-q13.2 |
| APOBEC3C | negative regulation of transposition; DNA demethylation; interspecies interaction between organisms; response to virus | 22q13.1 |
| APOBEC3D | negative regulation of transposition | 22q13.1 |
| APOBEC3F | response to virus; positive regulation of defense response to virus by host; DNA demethylation; cytidine deamination; negative regulation of transposition; negative regulation of viral reproduction; base conversion or substitution editing; negative regulation of viral genome replication; innate immune response; negative regulation of retroviral genome replication | 22q13.1 |
| APOBEC3G | interspecies interaction between organisms; negative regulation of viral genome replication; cytidine deamination; negative regulation of retroviral genome replication; negative regulation of transposition; response to virus; innate immune response; positive regulation of defense response to virus by host; viral reproduction; negative regulation of viral reproduction; base conversion or substitution editing; DNA cytosine deamination | 22q13.1-q13.2 |
| APOBEC3H | cytidine deamination; response to virus; negative regulation of transposition; negative regulation of viral reproduction; negative regulation of retroviral genome replication; DNA cytosine deamination | 22q13.1 |
| APOBEC4 | mRNA processing | 1q25.3 |
| APOBR | cholesterol metabolic process; steroid metabolic process; lipid transport; transport; triglyceride metabolic process | 16p11 |
| APOC1 | regulation of cholesterol transport; regulation of lipid transport; negative regulation of very-low-density lipoprotein particle clearance; negative regulation of phosphatidylcholine catabolic process; 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; very-low-density lipoprotein particle assembly; high-density lipoprotein particle remodeling; plasma lipoprotein particle remodeling; phospholipid efflux; cholesterol efflux; negative regulation of cholesterol transport; chylomicron remnant clearance; cholesterol metabolic process; transport; triglyceride metabolic process; lipid metabolic process; positive regulation of cholesterol esterification | 19q13.2 |
| APOC1P1 | - | 19q13.2 |
| APOC2 | lipoprotein metabolic process; negative regulation of very-low-density lipoprotein particle clearance; high-density lipoprotein particle clearance; chylomicron remnant clearance; very-low-density lipoprotein particle remodeling; chylomicron remodeling; triglyceride-rich lipoprotein particle remodeling; phospholipid efflux; cholesterol efflux; negative regulation of cholesterol transport; lipid catabolic process; positive regulation of very-low-density lipoprotein particle remodeling; 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; positive regulation of phospholipase activity; lipid transport; transport; lipid metabolic process; positive regu | 19q13.2 |
| APOC3 | triglyceride homeostasis; negative regulation of fatty acid biosynthetic process; negative regulation of lipid metabolic process; negative regulation of receptor-mediated endocytosis; negative regulation of lipid catabolic process; negative regulation of lipoprotein lipase activity; negative regulation of cholesterol import; negative regulation of high-density lipoprotein particle clearance; cholesterol homeostasis; negative regulation of very-low-density lipoprotein particle clearance; negative regulation of very-low-density lipoprotein particle remodeling; negative regulation of triglyceride catabolic process; cholesterol metabolic process; small molecule metabolic process; reverse cholesterol transport; lipoprotein metabolic process; chylomicron remnant clearance; very-low-density lipoprotein particle assembly; high-density lipoprotein particle remodeling; phospholipid efflux; cholesterol efflux; Cdc42 protein signal transduction; triglyceride catabolic process; negative regulation of low-density lipoprote | 11q23.3 |
| APOD | negative regulation of protein import into nucleus; angiogenesis; glucose metabolic process; lipid metabolic process; lipid transport; brain development; aging; negative regulation of platelet-derived growth factor receptor signaling pathway; peripheral nervous system axon regeneration; tissue regeneration; response to reactive oxygen species; response to drug; negative regulation of smooth muscle cell proliferation; response to axon injury; negative regulation of focal adhesion assembly; negative regulation of lipoprotein lipid oxidation; 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 | 3q26.2-qter |
| APOE | low-density lipoprotein particle remodeling; 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; peripheral nervous system axon regeneration; phospholipid efflux; very-low-density lipoprotein particle remodeling; cGMP-mediated signaling; high-density lipoprotein particle remodeling; cardiovascular system development; high-density lipoprotein particle assembly; chylomicron remnant clearance; high-density lipoprotein particle clearance; very-low-density lipoprotein particle clearance; lipoprotein metabolic process; lipoprotein biosynthetic process; positive regulation of nitric-oxide synthase activity; reverse cholesterol transport; receptor-mediated endocytosis; small molecule metabolic process; response to ethanol; negative regulation of cholesterol biosynthetic process; intracellular transport; regulati | 19q13.2 |
| APOH | negative regulation of smooth muscle cell apoptosis; negative regulation of myeloid cell apoptosis; plasminogen activation; organ regeneration; negative regulation of blood coagulation; positive regulation of blood coagulation; negative regulation of angiogenesis; negative regulation of endothelial cell migration; blood coagulation, intrinsic pathway; triglyceride metabolic process; negative regulation of endothelial cell proliferation; triglyceride transport; positive regulation of lipoprotein lipase activity; regulation of fibrinolysis; negative regulation of fibrinolysis | 17q24.2 |
| APOL1 | transport; lipid transport; steroid metabolic process; chloride transport; cholesterol metabolic process; cytolysis; killing of cells of other organism; lipoprotein metabolic process; innate immune response | 22q13.1 |
| APOL2 | maternal process involved in female pregnancy; lipid metabolic process; transport; lipid transport; acute-phase response; multicellular organismal development; cholesterol metabolic process; lipoprotein metabolic process | 22q12 |
| APOL3 | positive regulation of I-kappaB kinase/NF-kappaB cascade; transport; lipid transport; inflammatory response; signal transduction; lipoprotein metabolic process | 22q13.1 |
| APOL4 | transport; lipid metabolic process; lipid transport; lipoprotein metabolic process | 22q11.2-q13.2 |
| APOL5 | lipid transport; lipoprotein metabolic process; lipid metabolic process; transport | 22q12.3 |
| APOL6 | transport; lipid transport; lipoprotein metabolic process | 22q12.3 |
| APOLD1 | lipoprotein metabolic process; cell differentiation; endothelial cell activation; multicellular organismal development; regulation of endothelial cell differentiation; angiogenesis; response to hypoxia; lipid transport | 12p13.1 |
| APOM | high-density lipoprotein particle assembly; high-density lipoprotein particle remodeling; reverse cholesterol transport; cholesterol efflux; high-density lipoprotein particle clearance; cholesterol homeostasis; lipoprotein metabolic process; negative regulation of plasma lipoprotein particle oxidation; transport; response to glucose stimulus | 6p21.33 |
| APOO | transport; lipid transport | Xp22.11 |
| APOOL | - | Xq21.1 |
| APOOP1 | - | 5q33.3 |
| APOPT1 | positive regulation of release of cytochrome c from mitochondria; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of smooth muscle cell apoptosis; induction of apoptosis by intracellular signals | 14q32.33 |
| APP | cell adhesion; axon cargo transport; locomotory behavior; mating behavior; blood coagulation; axonogenesis; Notch signaling pathway; regulation of epidermal growth factor-activated receptor activity; G2 phase of mitotic cell cycle; cell death; adult locomotory behavior; visual learning; regulation of gene expression; axon midline choice point recognition; neuron remodeling; dendrite development; 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; endocytosis; smooth endoplasmic reticulum calcium ion homeostasis; neuron apoptosis; synaptic growth at neuromuscular junction; neuromuscular process controlling balance; regulation of synapse structure and activity; collateral sprouting in absence of injury; positive regulation of transcription from RNA polymerase II promoter; positive regulation of mitotic cell cycle; negativ | 21q21.3 |
| APPBP2 | intracellular transport; intracellular protein transport | 17q23.2 |
| APPL1 | regulation of glucose import; regulation of establishment of protein localization in plasma membrane; cell cycle; regulation of apoptotic process; insulin receptor signaling pathway; apoptotic process; cell proliferation; signal transduction | 3p21.1-p14.3 |
| APPL2 | cell proliferation; signal transduction; cell cycle | 12q24.1 |
| APRT | adenine salvage; purine base metabolic process; purine ribonucleoside salvage; lactation; grooming behavior; nucleoside metabolic process; purine-containing compound salvage; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 16q24 |
| APTR | - | - |
| APTX | response to DNA damage stimulus; cell death; regulation of protein stability; response to hydrogen peroxide; double-strand break repair; single strand break repair | 9p13.3 |
| AQP1 | renal water transport; cGMP biosynthetic process; potassium ion transport; water transport; cell volume homeostasis; carbon dioxide transport; cellular response to hydrogen peroxide; ammonium transport; 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; 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; cellular homeostasis; transmembrane transport; multicellular organismal water homeostasis; positive regulation of fibroblast proliferation; positive regulation of saliva secretion; positive regulation of angiogenesis; negative regulation of apoptotic process; response to drug; odontogenesis; carbon dioxide transmemb | 7p14 |
| AQP10 | transmembrane transport; response to toxin; water transport | 1q21.3 |
| AQP11 | protein homooligomerization; water transport; ion transport; glycerol transport; urea transport; endosomal lumen acidification; kidney development | 11q14.1 |
| AQP12B | - | 2q37.3 |
| AQP2 | actin filament depolymerization; renal water transport; water transport; apoptotic process; metanephric collecting duct development; cellular response to water deprivation; response to starvation; cellular response to mercury ion; response to glucagon stimulus; response to lipopolysaccharide; cellular response to copper ion; glycerol transport; response to lithium ion; response to hormone stimulus; excretion; hyperosmotic response; female pregnancy; cell volume homeostasis; aging; response to calcium ion; positive regulation of calcium ion transport; transmembrane transport; response to salt stress | 12q12-q13 |
| AQP3 | response to calcium ion; positive regulation of immune system process; transport; water transport; excretion; glycerol transport; urea transport; response to retinoic acid; odontogenesis; regulation of keratinocyte differentiation; transmembrane transport; renal water absorption; response to vitamin D | 9p13 |
| AQP4 | multicellular organismal water homeostasis; cellular response to interferon-gamma; transmembrane transport; excretion; nervous system development; water transport; transport | 18q11.2-q12.1 |
| AQP4-AS1 | - | 18q11.2 |
| AQP5 | water transport; excretion; carbon dioxide transport; pancreatic juice secretion; odontogenesis; saliva secretion; camera-type eye morphogenesis; transmembrane transport | 12q13 |
| AQP6 | excretion; water transport; transport; transmembrane transport; odontogenesis | 12q13 |
| AQP7 | glycerol transport; renal water absorption; transmembrane transport; response to drug; urea transport; excretion; spermatogenesis; water transport; generation of precursor metabolites and energy | 9p13 |
| AQP7P1 | - | 9q13 |
| AQP7P2 | - | 9q21.11 |
| AQP8 | water transport; canalicular bile acid transport; transmembrane transport; cellular response to cAMP; transport | 16p12 |
| AQP9 | response to mercury ion; transport; water transport; purine base transport; immune response; response to osmotic stress; cellular response to cAMP; transmembrane transport; carboxylic acid transport; excretion; water homeostasis; pyrimidine base transport; amine transport; glycerol transport; polyol transport; canalicular bile acid transport; response to organic substance; metabolic process | 15q |
| AQR | nuclear mRNA splicing, via spliceosome; RNA splicing | 15q14 |
| AR | regulation of transcription, DNA-dependent; positive regulation of NF-kappaB transcription factor activity; negative regulation of integrin biosynthetic process; positive regulation of integrin biosynthetic process; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase III promoter; male sex differentiation; regulation of developmental growth; organ formation; male genitalia morphogenesis; negative regulation of epithelial cell proliferation; regulation of catalytic activity; transcription, DNA-dependent; 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 | Xq12 |
| ARAF | protein modification process; negative regulation of apoptotic process; intracellular signal transduction; positive regulation of peptidyl-serine phosphorylation; protein phosphorylation | Xp11.4-p11.2 |
| ARAP1 | regulation of cellular component movement; negative regulation of stress fiber assembly; positive regulation of filopodium assembly; regulation of small GTPase mediated signal transduction; positive regulation of Cdc42 GTPase activity; regulation of ARF GTPase activity; actin filament reorganization involved in cell cycle; regulation of cell shape; signal transduction; small GTPase mediated signal transduction | 11q13.4 |
| ARAP3 | negative regulation of Rho protein signal transduction; regulation of small GTPase mediated signal transduction; negative regulation of Rac protein signal transduction; negative regulation of cell migration; positive regulation of Rho GTPase activity; regulation of ARF GTPase activity; vesicle-mediated transport; regulation of cell shape; small GTPase mediated signal transduction; signal transduction; cytoskeleton organization | 5q31.3 |
| ARC | learning; anterior/posterior pattern specification; regulation of neuronal synaptic plasticity; cell migration; regulation of cell morphogenesis; endoderm development; multicellular organismal development; cytoskeleton organization; endocytosis | 8q24.3 |
| ARCN1 | transport; intracellular protein transport; retrograde vesicle-mediated transport, Golgi to ER; cellular membrane organization; vesicle-mediated transport; COPI coating of Golgi vesicle | 11q23.3 |
| AREG | - | 4q13.3 |
| AREL1 | - | 14q24.3 |
| ARF1 | cellular copper ion homeostasis; GTP catabolic process; 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; regulation of defense response to virus by virus; retrograde vesicle-mediated transport, Golgi to ER | 1q42 |
| ARF1P3 | - | 8q24.13 |
| ARF3 | protein transport; vesicle-mediated transport; small GTPase mediated signal transduction; GTP catabolic process | 12q13 |
| ARF4 | response to axon injury; vesicle-mediated transport; protein transport; GTP catabolic process; epidermal growth factor receptor signaling pathway; small GTPase mediated signal transduction; brain development | 3p21.2-p21.1 |
| ARF4P3 | - | 13q32.3 |
| ARF4P4 | - | 13q31.1 |
| ARF5 | vesicle-mediated transport; protein transport; small GTPase mediated signal transduction; GTP catabolic process | 7q31.3 |
| ARF6 | cortical actin cytoskeleton organization; positive regulation of actin filament polymerization; cell differentiation; vesicle-mediated transport; protein transport; negative regulation of receptor-mediated endocytosis; nervous system development; protein localization at cell surface; regulation of Rac protein signal transduction; ruffle organization; positive regulation of establishment of protein localization in plasma membrane; regulation of dendritic spine development; regulation of filopodium assembly; cell adhesion; cellular component movement; apoptotic process; GTP catabolic process; liver development; small GTPase mediated signal transduction | 14q21.3 |
| ARFGAP1 | cellular membrane organization; endoplasmic reticulum unfolded protein response; vesicle-mediated transport; regulation of ARF GTPase activity; COPI coating of Golgi vesicle; protein transport; activation of signaling protein activity involved in unfolded protein response; retrograde vesicle-mediated transport, Golgi to ER | 20q13.33 |
| ARFGAP2 | regulation of ARF GTPase activity; protein transport; vesicle-mediated transport | 11p11.2-p11.12 |
| ARFGAP3 | vesicle-mediated transport; protein secretion; intracellular protein transport; regulation of ARF GTPase activity | 22q13.2 |
| ARFGEF1 | regulation of ARF protein signal transduction; exocytosis | 8q13 |
| ARFGEF2 | exocytosis; intracellular signal transduction; regulation of ARF protein signal transduction; vesicle-mediated transport | 20q13.13 |
| ARFGEF3 | regulation of ARF protein signal transduction; negative regulation of phosphatase activity | 6q23.3 |
| ARFIP1 | intracellular protein transport; regulation of protein secretion | 4q31.3 |
| ARFIP2 | ruffle organization; actin cytoskeleton organization; lamellipodium assembly; small GTPase mediated signal transduction; cellular component movement | 11p15 |
| ARFRP1 | Golgi to plasma membrane protein transport; GTP catabolic process; signal transduction; small GTPase mediated signal transduction; gastrulation; protein localization in Golgi apparatus; retrograde transport, endosome to Golgi | 20q13.3 |
| ARG1 | response to vitamin E; maternal process involved in female pregnancy; cellular nitrogen compound metabolic process; response to drug; response to amino acid stimulus; response to peptide hormone stimulus; small molecule metabolic process; response to cadmium ion; response to steroid hormone stimulus; response to axon injury; mammary gland involution; response to methylmercury; response to vitamin A; collagen biosynthetic process; lung development; regulation of L-arginine import; response to selenium ion; response to zinc ion; response to manganese ion; response to herbicide; arginine catabolic process; positive regulation of endothelial cell proliferation; liver development; urea cycle; cellular response to hydrogen peroxide; cellular response to lipopolysaccharide; cellular response to glucagon stimulus; cellular response to dexamethasone stimulus; cellular response to transforming growth factor beta stimulus; protein homotrimerization | 6q23 |
| ARG2 | lung development; cellular response to lipopolysaccharide; response to vitamin E; cellular nitrogen compound metabolic process; response to drug; response to amino acid stimulus; small molecule metabolic 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; response to selenium ion; regulation of L-arginine import; cellular response to dexamethasone stimulus; cellular response to interferon-gamma; response to glucose stimulus; response to hormone stimulus; response to herbicide; response to nutrient; midgut development; apoptotic process; nitric oxide biosynthetic process; arginine metabolic process; response to hypoxia; ureteric bud development; urea cycle | 14q24.1 |
| ARGLU1 | regulation of transcription, DNA-dependent | 13q33.3 |
| ARHGAP1 | signal transduction; small GTPase mediated signal transduction; Rho protein signal transduction; positive regulation of Rho GTPase activity; regulation of GTPase activity; regulation of small GTPase mediated signal transduction | 11p11.2 |
| ARHGAP10 | apoptotic process; regulation of small GTPase mediated signal transduction; filopodium assembly; regulation of apoptotic process; small GTPase mediated signal transduction; signal transduction; cytoskeleton organization | 4q31.23 |
| ARHGAP11A | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 15q13.2 |
| ARHGAP12 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 10p11.22 |
| ARHGAP15 | signal transduction; small GTPase mediated signal transduction; regulation of cell shape; positive regulation of Rac GTPase activity; regulation of small GTPase mediated signal transduction | 2q22.2-q22.3 |
| ARHGAP16P | - | 14q21.2 |
| ARHGAP17 | small GTPase mediated signal transduction; signal transduction; calcium ion-dependent exocytosis; regulation of small GTPase mediated signal transduction; actin filament organization | 16p12.1 |
| ARHGAP18 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 6q22.33 |
| ARHGAP19 | small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; signal transduction | 10q24.1 |
| ARHGAP20 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 11q23.1 |
| ARHGAP21 | signal transduction | 10p12.1|10p12.3 |
| ARHGAP22 | regulation of small GTPase mediated signal transduction; cell differentiation; multicellular organismal development; small GTPase mediated signal transduction; signal transduction; regulation of transcription, DNA-dependent; angiogenesis | 10q11.22 |
| ARHGAP22-IT1 | - | 10q11.22 |
| ARHGAP23 | signal transduction | 17q12 |
| ARHGAP24 | regulation of small GTPase mediated signal transduction; multicellular organismal development; angiogenesis; signal transduction; cell differentiation; small GTPase mediated signal transduction | 4q22.1 |
| ARHGAP25 | signal transduction; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction | 2p13.3 |
| ARHGAP26 | nervous system development; small GTPase mediated signal transduction; signal transduction; actin cytoskeleton organization; positive regulation of Rho GTPase activity; filopodium assembly; regulation of small GTPase mediated signal transduction | 5q31 |
| ARHGAP26-IT1 | - | - |
| ARHGAP27 | receptor-mediated endocytosis; signal transduction; positive regulation of Rac GTPase activity; positive regulation of Cdc42 GTPase activity | 17q21.31 |
| ARHGAP28 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 18p11.31 |
| ARHGAP29 | regulation of small GTPase mediated signal transduction; positive regulation of Rho GTPase activity; small GTPase mediated signal transduction; Rho protein signal transduction | 1p22.1 |
| ARHGAP30 | regulation of small GTPase mediated signal transduction; signal transduction; 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 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 11q24.3 |
| ARHGAP33 | protein transport; signal transduction | 19q13.12 |
| ARHGAP35 | transcription, DNA-dependent; signal transduction; axon guidance; positive regulation of Rho GTPase activity; negative regulation of transcription, DNA-dependent; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction | 19q13.3 |
| ARHGAP36 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | Xq26.1 |
| ARHGAP39 | regulation of small GTPase mediated signal transduction; axon guidance; small GTPase mediated signal transduction; signal transduction | 8q24.3 |
| ARHGAP4 | cytoskeleton organization; apoptotic process; 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; regulation of small GTPase mediated signal transduction | Xq28 |
| ARHGAP40 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 20q11.23 |
| ARHGAP42 | filopodium assembly; signal transduction | 11q22.1 |
| ARHGAP42P1 | - | - |
| ARHGAP42P2 | - | 2q21.1 |
| ARHGAP42P4 | - | 14q11.2 |
| ARHGAP44 | signal transduction; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction | 17p12 |
| ARHGAP5 | GTP catabolic process; cell adhesion; signal transduction; small GTPase mediated signal transduction; Rho protein signal transduction; positive regulation of Rho GTPase activity; regulation of small GTPase mediated signal transduction | 14q12 |
| ARHGAP5-AS1 | - | 14q12 |
| ARHGAP6 | regulation of GTPase activity; regulation of small GTPase mediated signal transduction; negative regulation of stress fiber assembly; negative regulation of focal adhesion assembly; signal transduction; actin filament polymerization; positive regulation of phospholipase activity; Rho protein signal transduction; actin filament organization; activation of phospholipase C activity; small GTPase mediated signal transduction; positive regulation of Rho GTPase activity | Xp22.3 |
| ARHGAP8 | regulation of small GTPase mediated signal transduction; positive regulation of Rho GTPase activity; positive regulation of ERK1 and ERK2 cascade; signal transduction; small GTPase mediated signal transduction | 22q13.31 |
| ARHGAP9 | small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; positive regulation of GTPase activity; signal transduction | 12q13.3 |
| ARHGDIA | regulation of catalytic activity; regulation of small GTPase mediated signal transduction; positive regulation of axonogenesis; negative regulation of axonogenesis; nerve growth factor receptor signaling pathway; regulation of protein localization; Rho protein signal transduction; small GTPase mediated signal transduction; anti-apoptosis; cellular component movement; negative regulation of cell adhesion; regulation of axonogenesis | 17q25.3 |
| ARHGDIB | Rho protein signal transduction; regulation of small GTPase mediated signal transduction; actin cytoskeleton organization; multicellular organismal development; small GTPase mediated signal transduction; negative regulation of cell adhesion; immune response; cellular component movement | 12p12.3 |
| ARHGDIG | regulation of protein localization; regulation of small GTPase mediated signal transduction; regulation of catalytic activity; negative regulation of cell adhesion; small GTPase mediated signal transduction; Rho protein signal transduction | 16p13.3 |
| ARHGEF1 | Rho protein signal transduction; cell proliferation; regulation of Rho protein signal transduction; termination of G-protein coupled receptor signaling pathway; negative regulation of axonogenesis; nerve growth factor receptor signaling pathway; regulation of axonogenesis | 19q13.13 |
| ARHGEF10 | positive regulation of GTP catabolic process; spindle assembly involved in mitosis; positive regulation of stress fiber assembly; centrosome duplication; regulation of Rho protein signal transduction; myelination in peripheral nervous system | 8p23 |
| ARHGEF10L | positive regulation of Rho GTPase activity; regulation of Rho protein signal transduction; positive regulation of transcription via sterol regulatory element binding; positive regulation of stress fiber assembly | 1p36.13 |
| ARHGEF11 | Rho protein signal transduction; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; positive regulation of transcription, DNA-dependent; termination of G-protein coupled receptor signaling pathway; cytokinesis; regulation of cell growth; apoptotic process; cellular component movement; striated muscle contraction; G-protein coupled receptor signaling pathway; small GTPase mediated signal transduction; regulation of Rho protein signal transduction; actin cytoskeleton organization; establishment of cell polarity; induction of apoptosis by extracellular signals; axon guidance | 1q21 |
| ARHGEF12 | regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; termination of G-protein coupled receptor signaling pathway; regulation of Rho protein signal transduction; induction of apoptosis by extracellular signals; axon guidance; small GTPase mediated signal transduction; G-protein coupled receptor signaling pathway; apoptotic process | 11q23.3 |
| ARHGEF15 | negative regulation of synapse maturation; positive regulation of stress fiber assembly; regulation of catalytic activity; regulation of Rho protein signal transduction | 17p13.1 |
| ARHGEF16 | regulation of Rho protein signal transduction; activation of Cdc42 GTPase activity; activation of Rac GTPase activity; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; apoptotic process; induction of apoptosis by extracellular signals; cell chemotaxis; positive regulation of establishment of protein localization in plasma membrane; small GTPase mediated signal transduction | 1p36.3 |
| ARHGEF17 | nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; regulation of Rho protein signal transduction; actin cytoskeleton organization; induction of apoptosis by extracellular signals; small GTPase mediated signal transduction; apoptotic process | 11q13.4 |
| ARHGEF18 | apoptotic process; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; actin cytoskeleton organization; induction of apoptosis by extracellular signals; regulation of cell shape; small GTPase mediated signal transduction | 19p13.3 |
| ARHGEF19 | regulation of actin cytoskeleton organization; wound healing; regulation of Rho protein signal transduction; positive regulation of Rho GTPase activity | 1p36.13 |
| ARHGEF2 | cell cycle; establishment of mitotic spindle orientation; mitosis; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; regulation of Rho protein signal transduction; intracellular signal transduction; regulation of cell proliferation; 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; negative regulation of microtubule depolymerization; actin filament organization; apoptotic process; intracellular protein transport; cell morphogenesis | 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; apoptotic process; small GTPase mediated signal transduction; Rho protein signal transduction; induction of apoptosis by extracellular signals; regulation of small GTPase mediated signal transduction; regulation of 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 | lamellipodium assembly; apoptotic process; nerve growth factor receptor signaling pathway; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; filopodium assembly; intracellular signal transduction; regulation of small GTPase mediated signal transduction; regulation of Rho protein 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; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; positive regulation of GTPase activity; regulation of Rho protein signal transduction; cell junction assembly; small GTPase mediated signal transduction; JNK cascade; apoptotic process | Xq26.3 |
| ARHGEF7 | nervous system development; apoptotic process; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; positive regulation of apoptotic process; negative regulation of epidermal growth factor receptor signaling pathway; regulation of Rho protein signal transduction; signal transduction; epidermal growth factor receptor signaling pathway; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals | 13q34 |
| ARHGEF7-AS2 | - | - |
| ARHGEF7-IT1 | - | - |
| ARHGEF9 | apoptotic process; induction of apoptosis by extracellular signals; regulation of Rho protein signal transduction; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; ion transmembrane transport; synaptic transmission; transmembrane transport | Xq11.1 |
| ARHGEF9-IT1 | - | - |
| ARID1A | chromatin organization; intracellular estrogen receptor signaling pathway; nervous system development; regulation of transcription from RNA polymerase II promoter; chromatin remodeling; nucleosome disassembly; positive regulation of transcription, DNA-dependent; chromatin-mediated maintenance of transcription; androgen receptor signaling pathway; nucleosome mobilization; glucocorticoid receptor signaling pathway | 1p35.3 |
| ARID1B | nervous system development; chromatin modification; regulation of transcription, DNA-dependent; chromatin-mediated maintenance of transcription | 6q25.1 |
| ARID2 | nucleosome disassembly; chromatin modification; regulation of transcription, DNA-dependent | 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; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 14q23.1 |
| ARID4B | regulation of transcription, DNA-dependent | 1q42.1-q43 |
| ARID5A | negative regulation of transcription, DNA-dependent | 2q11.2 |
| ARID5B | post-embryonic development; nitrogen compound metabolic process; negative regulation of transcription, DNA-dependent; fat cell differentiation; multicellular organism growth; adrenal gland development; fibroblast migration; fat pad development; adipose tissue development; face morphogenesis; female gonad development; male gonad development; liver development; kidney development; platelet-derived growth factor receptor signaling pathway; cell development; muscle organ morphogenesis; skeletal system morphogenesis; positive regulation of sequence-specific DNA binding transcription factor activity; palate development | 10q21.2 |
| ARIH1 | ubiquitin-dependent protein catabolic process; protein ubiquitination; cytokine-mediated signaling pathway | 15q24 |
| ARIH2 | protein polyubiquitination; multicellular organismal development; protein K63-linked ubiquitination; hemopoietic stem cell proliferation; protein K48-linked ubiquitination; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; developmental cell growth | 3p21 |
| ARIH2OS | - | 3p21.31 |
| ARIH2P1 | - | 18q12.1 |
| ARL1 | retrograde transport, endosome to Golgi; Golgi vesicle transport; protein localization in Golgi apparatus; activation of phospholipase D activity; toxin metabolic process; 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 | protein transport; small GTPase mediated signal transduction; vesicle-mediated transport | 17q21.31 |
| ARL2 | maintenance of protein location in nucleus; tight junction assembly; centrosome organization; negative regulation of GTPase activity; regulation of microtubule polymerization; acetylcholine transport; GTP catabolic process; positive regulation of cell-substrate adhesion; tubulin complex assembly; cell cycle; small GTPase mediated signal transduction; positive regulation of microtubule polymerization | 11q13 |
| ARL2BP | maintenance of protein location in nucleus; positive regulation of tyrosine phosphorylation of Stat3 protein; signal transduction | 16q13 |
| ARL2BPP4 | - | 5q23.3 |
| ARL3 | cilium morphogenesis; photoreceptor cell development; protein transport; small GTPase mediated signal transduction; cell cycle; kidney development; cytokinesis | 10q23.3 |
| ARL4A | brown fat cell differentiation; small GTPase mediated signal transduction | 7p21.3 |
| ARL4C | GTP catabolic process; transport; endocytic recycling; small GTPase mediated signal transduction | 2q37.1 |
| ARL4D | GTP catabolic process; small GTPase mediated signal transduction; protein secretion | 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; determination of left/right symmetry; small GTPase mediated signal transduction; visual perception; Wnt receptor signaling pathway; cell projection organization; melanosome transport; cilium assembly; response to stimulus; protein polymerization | 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; small GTPase mediated signal transduction; mitosis; chromosome segregation; cell cycle; GTP catabolic process | 1q32.1 |
| ARL8B | GTP catabolic process; cell cycle; cell division; small GTPase mediated signal transduction; chromosome segregation | 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; 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; regulation of transcription from RNA polymerase II promoter in response to oxidative stress; 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; positive regulation of protein sumoylation; mRNA transcription from RNA polymerase II promoter; positive regulation of erythrocyte differentiation | 1q21 |
| ARNT2 | positive regulation of cell proliferation; response to hypoxia; in utero embryonic development; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of apoptotic process; response to estradiol stimulus; central nervous system development | 15q24 |
| ARNTL | positive regulation of transcription from RNA polymerase II promoter; circadian rhythm | 11p15 |
| ARNTL2 | circadian rhythm; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; entrainment of circadian clock | 12p12.2-p11.2 |
| ARNTL2-AS1 | - | 12p11.23 |
| ARPC1A | regulation of actin filament polymerization; actin cytoskeleton organization | 7q22.1 |
| ARPC1B | cellular component movement; regulation of actin filament polymerization | 7q22.1 |
| ARPC2 | cellular component movement; positive regulation of actin filament polymerization | 2q36.1 |
| ARPC3 | regulation of actin filament polymerization; cellular component movement | 12q24.11 |
| ARPC3P1 | - | 20q13.13 |
| ARPC3P5 | - | 6p22.3 |
| ARPC4 | actin nucleation; actin filament polymerization | 3p25.3 |
| ARPC5 | cellular component movement; actin cytoskeleton organization; regulation of actin filament polymerization | 1q25.3 |
| ARPC5L | regulation of actin filament polymerization | 9q33.3 |
| ARPIN | - | 15q26.1 |
| ARPP19 | cell cycle; G2/M transition of mitotic cell cycle; mitosis; positive regulation of gluconeogenesis; 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 | regulation of transcription, DNA-dependent; G-protein coupled receptor internalization; 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 protein ubiquitination; transcription from RNA polymerase II promoter; post-Golgi vesicle-mediated transport; blood coagulation; negative regulation of signal transduction; protein transport; cellular membrane organization; protein ubiquitination; platelet activation; negative regulation of NF-kappaB transcription factor activity | 11q13 |
| ARRB2 | blood coagulation; positive regulation of ERK1 and ERK2 cascade; cell chemotaxis; negative regulation of natural killer cell mediated cytotoxicity; proteasomal ubiquitin-dependent protein catabolic process; negative regulation of NF-kappaB transcription factor activity; receptor internalization; negative regulation of protein ubiquitination; platelet activation; protein transport; protein ubiquitination; G-protein coupled receptor internalization; desensitization of G-protein coupled receptor protein signaling pathway by arrestin; transcription from RNA polymerase II promoter; signal transduction; transforming growth factor beta receptor signaling pathway; negative regulation of signal transduction | 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 | sphingolipid metabolic process; glycosphingolipid metabolic process; binding of sperm to zona pellucida; small molecule metabolic process | 22q13.33 |
| ARSB | response to methylmercury; autophagy; response to estrogen stimulus; response to pH; response to nutrient; central nervous system development; lysosomal transport; lysosome organization | 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 | multicellular organismal development; cell adhesion | 22q11.21 |
| ARVP6125 | - | 3q22.1 |
| ARX | positive regulation of organ growth; cell proliferation in forebrain; axon guidance; regulation of cell proliferation; embryonic olfactory bulb interneuron precursor migration; cell differentiation; cerebral cortex GABAergic interneuron migration; cerebral cortex tangential migration; olfactory bulb development; globus pallidus development; nervous system development; multicellular organismal development; neuron migration | Xp21.3 |
| AS3MT | response to arsenic-containing substance; arsonoacetate metabolic process; toxin metabolic process | 10q24.32 |
| ASAH1 | small molecule metabolic process; glycosphingolipid metabolic process; ceramide metabolic process; sphingolipid metabolic process; lipid metabolic process | 8p22 |
| ASAH2 | glycosphingolipid metabolic process; ceramide metabolic process; lipid metabolic process; sphingolipid metabolic process; small molecule metabolic process; signal transduction; apoptotic process | 10q11.21 |
| ASAH2B | - | 10q11.23 |
| ASAP1 | cilium morphogenesis; regulation of ARF GTPase activity; cell projection organization; signal transduction; filopodium assembly | 8q24.1-q24.2 |
| ASAP1-IT1 | - | 8q24.21 |
| ASAP1-IT2 | - | - |
| ASAP2 | regulation of ARF GTPase activity; positive regulation of catalytic 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 | signal transduction; intracellular 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 | cerebral cortex GABAergic interneuron differentiation; forebrain neuron differentiation; oligodendrocyte cell fate commitment; spinal cord oligodendrocyte cell fate specification; spinal cord association neuron differentiation; response to epidermal growth factor stimulus; oligodendrocyte development; central nervous system neuron development; cerebral cortex development; neurogenesis; response to retinoic acid; regulation of cell proliferation; negative regulation of apoptotic process; positive regulation of neuron apoptosis; negative regulation of neuron differentiation; positive regulation of neuron differentiation; positive regulation of Notch signaling pathway; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sympathetic nervous system development; subpallium neuron fate commitment; cellular response to magnetism; adrenal chromaffin cell differentiation; carotid body glomus cell differentiation; stomach neuroendocrine cell differen | 12q23.2 |
| ASCL2 | central nervous system development; response to hypoxia; in utero embryonic development; placenta development; transcription, DNA-dependent; regulation of transcription, DNA-dependent; multicellular organismal development; peripheral nervous system development; negative regulation of Schwann cell proliferation; cell differentiation; somatic stem cell maintenance; spongiotrophoblast differentiation; spongiotrophoblast layer development; negative regulation of transcription from RNA polymerase II promoter | 11p15.5 |
| ASF1A | negative regulation of chromatin silencing; DNA repair; chromatin assembly or disassembly; nucleosome assembly; regulation of transcription, DNA-dependent; chromatin modification | 6q22.31 |
| ASF1B | cell differentiation; chromatin modification; spermatogenesis; regulation of transcription, DNA-dependent; nucleosome assembly; chromatin assembly or disassembly; multicellular organismal development | 19p13.12 |
| ASGR1 | receptor-mediated endocytosis; cellular response to extracellular stimulus | 17p13.2 |
| ASGR2 | endocytosis; cell surface receptor signaling pathway; glycoprotein metabolic process; bone mineralization; regulation of protein stability; lipid homeostasis | 17p |
| ASH1L | DNA packaging; chromatin modification; cell-cell signaling; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 1q22 |
| ASH1L-AS1 | - | 1q22 |
| ASH2L | 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; positive regulation of transcription from RNA polymerase II promoter | 8p11.2 |
| ASIC1 | ion transport; sodium ion transport; calcium ion transport; signal transduction; response to pH; transport | 12q12 |
| ASIC2 | peripheral nervous system development; ion transport; central nervous system development; synaptic transmission; monovalent inorganic cation transport | 17q12 |
| ASIC3 | transport; ion transport; signal transduction; sensory perception; sodium ion transmembrane transport | 7q35 |
| ASIC4 | transport; ion transport; sodium ion export | 2q35 |
| ASIC5 | ion transport | 4q32.1 |
| ASIP | signal transduction; cell-cell signaling; adult feeding behavior; generation of precursor metabolites and energy; hormone-mediated signaling pathway; melanosome transport; melanosome organization; regulation of molecular function, epigenetic; melanin biosynthetic process; pigmentation; genetic imprinting | 20q11.2-q12 |
| ASL | response to acid; cellular response to tumor necrosis factor; cellular response to glucagon stimulus; cellular response to hypoxia; aging; midgut development; arginine catabolic process; internal protein amino acid acetylation; liver development; kidney development; arginine biosynthetic process via ornithine; argininosuccinate metabolic process; cellular response to dexamethasone stimulus; urea cycle; response to drug; response to lipopolysaccharide; small molecule metabolic process; response to steroid hormone stimulus; response to growth hormone stimulus; diaphragm development; cellular response to ammonium ion; cellular response to cAMP; cellular response to interferon-gamma; cellular nitrogen compound metabolic process; ammonia assimilation cycle; response to amine stimulus; response to zinc ion; post-embryonic development; cellular amino acid biosynthetic process; locomotory behavior; response to nutrient | 7q11.21 |
| ASMT | indolalkylamine biosynthetic process; melatonin biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process; translation | Xp22.3 or Yp11.3 |
| ASMTL | - | Xp22.3; Yp11.3 |
| ASMTL-AS1 | - | Xp22.33; Yp11.32 |
| ASNA1 | transport; arsenite transport; detoxification of arsenic-containing substance | 19q13.3 |
| ASNS | cellular response to hormone stimulus; response to methotrexate; activation of signaling protein activity involved in unfolded protein response; response to follicle-stimulating hormone stimulus; response to nutrient levels; small molecule metabolic process; cellular nitrogen compound metabolic process; cellular response to glucose starvation; negative regulation of apoptotic process; positive regulation of mitotic cell cycle; response to amino acid stimulus; response to toxin; endoplasmic reticulum unfolded protein response; liver development; asparagine biosynthetic process; glutamine metabolic process; cellular amino acid biosynthetic process; response to light stimulus; response to mechanical stimulus | 7q21.3 |
| ASNSD1 | glutamine metabolic process; cellular amino acid biosynthetic process; asparagine biosynthetic process | 2p24.3-q21.3 |
| ASNSP1 | - | 8q11.1 |
| ASNSP3 | - | 13q32 |
| ASPA | aspartate catabolic process; metabolic process; central nervous system myelination; positive regulation of oligodendrocyte differentiation | 17p13.3 |
| ASPDH | pyridine nucleotide biosynthetic process; NAD biosynthetic process; NADP catabolic process | 19q13.33 |
| ASPG | cellular amino acid metabolic process; lipid catabolic process | 14q32.33 |
| ASPH | face morphogenesis; palate development; peptidyl-aspartic acid hydroxylation; limb morphogenesis; peptidyl-amino acid modification; pattern specification process; muscle contraction; negative regulation of cell proliferation | 8q12.1 |
| ASPHD1 | peptidyl-amino acid modification | 16p11.2 |
| ASPHD2 | peptidyl-amino acid modification | 22q12.1 |
| ASPM | negative regulation of asymmetric cell division; cell cycle; mitosis; forebrain neuroblast division; negative regulation of neuron differentiation; 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; protein processing; proteolysis | 2p13.3 |
| ASPSCR1 | intracellular protein transport; glucose homeostasis; regulation of glucose import | 17q25.3 |
| ASRGL1 | asparagine catabolic process via L-aspartate; protein maturation | 11q12.3 |
| ASS1 | aging; response to nutrient; cellular amino acid biosynthetic process; response to biotic stimulus; response to zinc ion; response to mycotoxin; response to estradiol stimulus; cellular nitrogen compound metabolic process; response to drug; small molecule metabolic process; response to steroid hormone stimulus; response to glucocorticoid stimulus; response to growth hormone stimulus; diaphragm development; response to fatty acid; midgut development; 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; urea cycle; argininosuccinate metabolic process; kidney development; liver development; arginine biosynthetic process; acute-phase response | 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 | cell division; cell cycle; mitosis; regulation of mitotic cell cycle; sperm motility; regulation of fertilization | 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 | DNA methylation involved in gamete generation; piRNA metabolic process; gene silencing by RNA; cell differentiation; spermatogenesis; multicellular organismal development; signal transduction; male meiosis | 7q31.2 |
| ATAD1 | memory; positive regulation of receptor internalization; ATP catabolic process; learning; negative regulation of synaptic transmission, glutamatergic | 10q23.31 |
| ATAD2 | regulation of transcription, DNA-dependent | 8q24.13 |
| ATAD2B | - | 2p24.1-p23.3 |
| ATAD3A | negative regulation of apoptotic process; cell growth | 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 | toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; regulation of transcription, DNA-dependent; Toll signaling pathway; response to organic cyclic compound; 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; positive regulation of neuron projection development; stress-activated MAPK cascade; cellular protein complex assembly; innate immune response; positive regulation of DNA replication; nerve growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter | 12q13 |
| ATF2 | MyD88-dependent toll-like receptor signaling pathway; stress-activated MAPK cascade; adipose tissue development; toll-like receptor signaling pathway; positive regulation of transforming growth factor beta2 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; innate immune response; fat cell differentiation; regulation of sequence-specific DNA binding transcription factor activity; Toll signaling pathway; response to osmotic stress; transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; outflow tract morphogenesis; MyD88-independent toll-like receptor signaling pathway | 2q32 |
| ATF3 | activation of signaling protein activity involved in unfolded protein response; regulation of transcription, DNA-dependent; gluconeogenesis; positive regulation of cell proliferation; endoplasmic reticulum unfolded protein response; negative regulation of transcription, DNA-dependent | 1q32.3 |
| ATF4 | transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; response to endoplasmic reticulum stress; endoplasmic reticulum unfolded protein response; activation of signaling protein activity involved in unfolded protein response; gluconeogenesis; regulation of transcription, DNA-dependent; cellular amino acid metabolic process | 22q13.1 |
| ATF4P3 | - | 17q25.1 |
| ATF5 | negative regulation of astrocyte differentiation; negative regulation of neurogenesis; anti-apoptosis; regulation of transcription from RNA polymerase II promoter | 19q13.3 |
| ATF6 | response to stress; protein folding; response to unfolded protein; activation of signaling protein activity involved in unfolded protein response; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response; endoplasmic reticulum unfolded protein response; signal transduction | 1q22-q23 |
| ATF6B | regulation of transcription, DNA-dependent; response to unfolded protein; transcription, DNA-dependent; signal transduction | 6p21.3 |
| ATF7 | interspecies interaction between organisms; regulation of transcription, DNA-dependent | 12q13 |
| ATF7IP | regulation of RNA polymerase II transcriptional preinitiation complex assembly; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; interspecies interaction between organisms; negative regulation of transcription from RNA polymerase II promoter; DNA methylation | 12p13.1 |
| ATF7IP2 | regulation of transcription, DNA-dependent | 16p13.13 |
| ATG10 | positive regulation of protein modification process; autophagy; autophagy in response to ER overload; protein transport; protein modification by small protein conjugation; protein lipidation | 5q14.1 |
| ATG101 | autophagic vacuole assembly; autophagy | 12q13.13 |
| ATG12 | autophagic vacuole assembly; autophagy; negative regulation of type I interferon production; innate immune response | 5q21-q22 |
| ATG12P1 | - | 17q25.1 |
| ATG12P2 | - | - |
| ATG13 | autophagic vacuole assembly; autophagy | 11p11.2 |
| ATG14 | autophagic vacuole assembly; positive regulation of autophagy | 14q22.3 |
| ATG16L1 | protein homooligomerization; autophagic vacuole assembly; protein transport; autophagy | 2q37.1 |
| ATG16L2 | protein transport; autophagy | 11q13.4 |
| ATG2A | - | 11q13.1 |
| ATG2B | - | 14q32.2 |
| ATG3 | autophagic vacuole assembly; protein modification process; protein targeting to membrane; mitochondrial fragmentation involved in apoptosis; autophagy; protein transport; protein ubiquitination | 3q13.2 |
| ATG4A | autophagy; proteolysis; protein transport | Xq22.1-q22.3 |
| ATG4B | protein transport; autophagy; proteolysis; autophagic vacuole assembly | 2q37.3 |
| ATG4C | proteolysis; autophagic vacuole assembly; protein targeting to membrane; autophagy; protein transport | 1p31.3 |
| ATG4D | protein transport; proteolysis; autophagy | 19p13.2 |
| ATG5 | autophagy; innate immune response; post-translational protein modification; negative regulation of apoptotic process; response to drug; vasodilation; negative regulation of type I interferon production; negative regulation of protein ubiquitination; blood vessel remodeling; autophagic vacuole assembly; otolith development; ventricular cardiac muscle cell development; heart contraction | 6q21 |
| ATG7 | response to starvation; cardiac muscle cell development; negative regulation of apoptotic process; protein modification by small protein conjugation; positive regulation of protein modification process; regulation of protein ubiquitination; neuron projection development; protein catabolic process; neurological system process; cerebral cortex development; pyramidal neuron development; liver development; protein modification process; protein lipidation; cellular amino acid metabolic process; autophagy; cellular membrane fusion; organelle organization; adult walking behavior; post-embryonic development; protein transport; cerebellar Purkinje cell layer development; central nervous system neuron axonogenesis | 3p25.3 |
| ATG9A | protein transport; autophagy; autophagic vacuole assembly | 2q35 |
| ATG9B | autophagic vacuole assembly; autophagy | 7q36.1 |
| ATHL1 | carbohydrate metabolic process | 11p15.5 |
| ATIC | purine base metabolic process; nucleobase-containing compound metabolic process; purine nucleotide biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; organ regeneration; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 2q35 |
| ATL1 | axonogenesis; protein homooligomerization; cell death; GTP catabolic process; endoplasmic reticulum organization | 14q22.1 |
| ATL2 | GTP catabolic process; ER to Golgi vesicle-mediated transport; endoplasmic reticulum organization; Golgi organization; protein homooligomerization | 2p22.3 |
| ATL3 | endoplasmic reticulum organization; protein homooligomerization; ER to Golgi vesicle-mediated transport; GTP catabolic process; Golgi organization | 11q13.1 |
| ATM | cell cycle checkpoint; double-strand break repair via homologous recombination; response to hypoxia; somitogenesis; pre-B cell allelic exclusion; DNA repair; double-strand break repair; DNA damage response, signal transduction resulting in induction of apoptosis; cell death; heart development; brain development; female gamete generation; signal transduction; reciprocal meiotic recombination; mitotic cell cycle spindle assembly checkpoint; cell cycle arrest; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; DNA damage induced protein phosphorylation; response to DNA damage stimulus; peptidyl-serine phosphorylation; response to ionizing radiation; replicative senescence; cellular response to gamma radiation; histone mRNA catabolic process; regulation of cell cycle; protein autophosphorylation; positive regulation of neuron apoptosis; positive regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of apoptotic process; positi | 11q22-q23 |
| ATMIN | response to DNA damage stimulus | 16q23.2 |
| ATN1 | neuron apoptosis; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; central nervous system development; cell death; toxin metabolic process; cell migration; maintenance of cell polarity; regulation of neuron differentiation | 12p13.31 |
| ATOH1 | apoptotic process; positive regulation of transcription from RNA polymerase II promoter; positive regulation of neuron differentiation; positive regulation of auditory receptor cell differentiation; auditory receptor cell fate determination; auditory receptor cell fate specification; inner ear morphogenesis; cerebral cortex development; central nervous system development; axon guidance; multicellular organismal development; neuron migration; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; brain development | 4q22 |
| ATOH8 | regulation of transcription, DNA-dependent; multicellular organismal development; nervous system development; cell differentiation | 2p11.2 |
| ATOX1 | metal ion transport; response to oxidative stress; cellular copper ion homeostasis; copper ion transport; ion transport | 5q32 |
| ATP10A | transmembrane transport; cation transport; phospholipid translocation; regulation of cell shape; ion transmembrane transport | 15q11.2 |
| ATP10B | phospholipid translocation; cation transport | 5q34 |
| ATP10D | ion transmembrane transport; cation transport; phospholipid translocation; transmembrane transport | 4p12 |
| ATP11A | cation transport; phospholipid translocation | 13q34 |
| ATP11A-AS1 | - | - |
| ATP11B | cation transport; transmembrane transport; phospholipid translocation; ion transmembrane transport; aminophospholipid transport; ion transport | 3q27 |
| ATP11C | cation transport; transmembrane transport; phospholipid translocation; ion transmembrane transport | Xq27.1 |
| ATP12A | transmembrane transport; ion transmembrane transport; proton transport; potassium ion 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 | ATP biosynthetic process; cation transport | 3q29 |
| ATP13A5-AS1 | - | - |
| ATP1A1 | potassium ion transport; sodium ion export; transmembrane transport; positive regulation of striated muscle contraction; positive regulation of heart contraction; response to drug; negative regulation of heart contraction; regulation of blood pressure; ATP biosynthetic process; ATP catabolic process; regulation of sodium ion transport; regulation of the force of heart contraction; dephosphorylation; negative regulation of glucocorticoid biosynthetic process; ion transmembrane transport | 1p21 |
| ATP1A1-AS1 | - | 1p13.1 |
| ATP1A2 | transmembrane transport; reduction of cytosolic calcium ion concentration; negative regulation of striated muscle contraction; negative regulation of heart contraction; locomotion; ion transmembrane transport; regulation of vasoconstriction; visual learning; adult locomotory behavior; regulation of blood pressure; regulation of striated muscle contraction; regulation of smooth muscle contraction; sodium ion transport; neurotransmitter uptake; regulation of the force of heart contraction; regulation of respiratory gaseous exchange by neurological system process; ATP biosynthetic process; potassium ion transport; ATP hydrolysis coupled proton transport | 1q23.2 |
| ATP1A4 | regulation of cellular pH; transmembrane transport; ion transmembrane transport; sperm motility; sodium ion transport; potassium ion transport; ATP biosynthetic process; ATP hydrolysis coupled proton transport | 1q23.2 |
| ATP1B1 | sodium ion transport; transmembrane transport; leukocyte migration; ion transmembrane transport; blood coagulation; potassium ion transport; transport; ATP biosynthetic process; response to hypoxia | 1q24 |
| ATP1B1P1 | - | 4p13 |
| ATP1B2 | transmembrane transport; leukocyte migration; ATP metabolic process; ion transmembrane transport; sodium ion transport; potassium ion transport; blood coagulation; transport | 17p13.1 |
| ATP1B3 | ATP metabolic process; transmembrane transport; leukocyte migration; ion transmembrane transport; blood coagulation; sodium ion transport; potassium ion transport; transport | 3q23 |
| ATP1B3P1 | - | 2p16.1 |
| ATP1B4 | transport; ATP metabolic process; monovalent inorganic cation transport; sodium ion transport; potassium ion transport; regulation of transcription, DNA-dependent | Xq24 |
| ATP2A1 | positive regulation of fast-twitch skeletal muscle fiber contraction; elevation of endoplasmic reticulum calcium ion concentration; reduction of endoplasmic reticulum calcium ion concentration; ion transmembrane transport; response to endoplasmic reticulum stress; negative regulation of striated muscle contraction; elevation of mitochondrial calcium ion concentration; maintenance of mitochondrion location; apoptosis in response to endoplasmic reticulum stress; calcium ion import; relaxation of skeletal muscle; transmembrane transport; blood coagulation; apoptotic mitochondrial changes; ATP catabolic process; ATP biosynthetic process; calcium ion transport; regulation of striated muscle contraction; cation transport | 16p12.1 |
| ATP2A1-AS1 | - | 16p11.2 |
| ATP2A2 | blood coagulation; sarcoplasmic reticulum calcium ion transport; transmembrane transport; ion transmembrane transport; epidermis development; cell adhesion; cation transport; transport; ATP biosynthetic process | 12q24.11 |
| ATP2A3 | ATP biosynthetic process; transport; cation transport; calcium ion transport; blood coagulation; ion transmembrane transport; transmembrane transport | 17p13.3 |
| ATP2B1 | cation transport; blood coagulation; ion transmembrane transport; transmembrane transport; calcium ion transmembrane transport; transport; ATP biosynthetic process | 12q21.3 |
| ATP2B2 | brain development; inner ear morphogenesis; serotonin metabolic process; locomotion; ion transmembrane transport; neuron differentiation; cerebellar granule cell differentiation; cerebellar Purkinje cell differentiation; cerebellar Purkinje cell layer morphogenesis; cerebellum development; regulation of cell size; locomotory behavior; sensory perception of sound; blood coagulation; lactation; organelle organization; calcium ion transport; cation transport; transport; ATP biosynthetic process; ATP catabolic process; neural retina development; cell morphogenesis; otolith mineralization; cGMP metabolic process; regulation of synaptic plasticity; synapse organization; neuromuscular process controlling balance; detection of mechanical stimulus involved in sensory perception of sound; cytosolic calcium ion homeostasis; positive regulation of calcium ion transport; transmembrane transport; auditory receptor cell stereocilium organization; inner ear receptor cell differentiation; calcium ion transmembrane transport; | 3p25.3 |
| ATP2B2-IT2 | - | - |
| ATP2B3 | ion transmembrane transport; blood coagulation; cation transport; transport; ATP biosynthetic process; transmembrane transport; calcium ion transmembrane transport | Xq28 |
| ATP2B4 | transport; neural retina development; ATP biosynthetic process; cation transport; blood coagulation; ion transmembrane transport; transmembrane transport; calcium ion transmembrane transport | 1q32.1 |
| ATP2C1 | transmembrane transport; positive regulation of I-kappaB kinase/NF-kappaB cascade; cation transport; ion transmembrane transport; Golgi calcium ion transport; Golgi calcium ion homeostasis; actin cytoskeleton reorganization; cellular manganese ion homeostasis; calcium-dependent cell-cell adhesion; epidermis development; signal transduction; cellular calcium ion homeostasis; manganese ion transport; calcium ion transport; ATP biosynthetic process | 3q22.1 |
| ATP2C2 | calcium ion transport; transmembrane transport; ion transmembrane transport; ATP biosynthetic process; cation transport | 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 | transmembrane transport; potassium ion transport; sodium ion transport; response to organic nitrogen; proton transport; response to lipopolysaccharide; ion transmembrane transport; ATP metabolic process | 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 | ADP biosynthetic process; angiogenesis; generation of precursor metabolites and energy; ATP catabolic process; regulation of intracellular pH; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; proton transport; ATP hydrolysis coupled proton transport; negative regulation of cell adhesion involved in substrate-bound cell migration; receptor-mediated endocytosis; ion transport; transport; ATP biosynthetic process; lipid metabolic process | 12q13.13 |
| ATP5BP1 | - | 2q11.2 |
| ATP5C1 | proton transport; respiratory electron transport chain; ATP biosynthetic process; mitochondrial ATP synthesis coupled proton transport; ion transport; oxidative phosphorylation; ATP catabolic process; small molecule metabolic process | 10p15.1 |
| ATP5C1P1 | - | 14q22.2 |
| ATP5D | oxidative phosphorylation; response to copper ion; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; proton transport; ion transport; ATP biosynthetic process; ATP catabolic process; ADP biosynthetic process | 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; ATP synthesis coupled proton transport; ion transport | 13q12 |
| ATP5F1 | ATP catabolic process; ion transport; ATP synthesis coupled proton transport; respiratory electron transport chain; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport | 1p13.2 |
| ATP5F1P5 | - | 11q24.1 |
| ATP5F1P6 | - | 6q24.1 |
| ATP5F1P7 | - | 16q23.1 |
| ATP5G1 | transport; ion transport; ATP hydrolysis coupled proton transport; respiratory electron transport chain; mitochondrial ATP synthesis coupled proton transport; small molecule metabolic process | 17q21.32 |
| ATP5G1P1 | - | 14q32.33 |
| ATP5G1P4 | - | 3q26.31 |
| ATP5G1P5 | - | 13q33.3 |
| ATP5G1P6 | - | 18q21.3 |
| ATP5G1P7 | - | 10q22.1 |
| ATP5G1P8 | - | 10q22.3 |
| ATP5G2 | ATP hydrolysis coupled proton transport; ATP synthesis coupled proton transport; ion transport; transport | 12q13.13 |
| ATP5G2P1 | - | 1q32.2 |
| ATP5G2P3 | - | 2q33.1 |
| ATP5G2P4 | - | Xp11.4 |
| ATP5G3 | transport; ion transport; aging; ATP synthesis coupled proton transport; ATP hydrolysis coupled proton transport; response to ethanol | 2q31.1 |
| ATP5H | mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; small molecule metabolic process; ATP catabolic process; ion transport | 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; small molecule metabolic process; transport; ion transport; respiratory electron transport chain; mitochondrial ATP synthesis coupled proton transport | 21q21.1 |
| ATP5J2 | ATP catabolic process; ATP biosynthetic process; ion transport; proton transport; respiratory electron transport chain; mitochondrial ATP synthesis coupled proton transport; small molecule metabolic process | 7q22.1 |
| ATP5J2LP | - | 21q22.13 |
| ATP5J2P3 | - | 9q21.2 |
| ATP5JP1 | - | Yp11.2 |
| ATP5L | ATP catabolic process; ion transport; respiratory electron transport chain; mitochondrial ATP synthesis coupled proton transport; small molecule metabolic process | 11q23.3 |
| ATP5L2 | ion transport; ATP synthesis coupled proton transport | 22q13.2 |
| ATP5LP1 | - | 11q13.1 |
| ATP5LP2 | - | 6q22.31 |
| ATP5LP6 | - | - |
| ATP5O | small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; proton transport; ion transport; ATP biosynthetic process; ATP catabolic process; transmembrane transport | 21q22.11 |
| ATP5S | ion transport; ATP biosynthetic process; proton transport | 14q21.3 |
| ATP5SL | - | 19q13.2 |
| ATP6 | - | - |
| ATP6AP1 | ATP hydrolysis coupled proton transport; ion transport; aging; cell death; proton transport | 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 | transmembrane transport; transferrin transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; ion transport | 17q21 |
| ATP6V0A2 | cellular iron ion homeostasis; ion transport; immune response; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; transferrin transport; transmembrane transport | 12q24.31 |
| ATP6V0A4 | regulation of pH; ossification; ion transport; cellular iron ion homeostasis; transmembrane transport; transferrin transport; proton transport; ATP hydrolysis coupled proton transport; excretion; insulin receptor signaling pathway; sensory perception of sound | 7q34 |
| ATP6V0B | transferrin transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; transmembrane transport; proton transport; ion transport | 1p32.3 |
| ATP6V0C | ion transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; transferrin transport; interspecies interaction between organisms; transmembrane transport | 16p13.3 |
| ATP6V0D1 | transmembrane transport; brain development; ion transmembrane transport; transferrin transport; endoplasmic reticulum unfolded protein response; proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; activation of signaling protein activity involved in unfolded protein response; cellular iron ion homeostasis; ATP catabolic process | 16q22.1 |
| ATP6V0D2 | transmembrane transport; transferrin transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; ion transport; cellular iron ion homeostasis | - |
| ATP6V0E1 | insulin receptor signaling pathway; vacuolar acidification; ATP hydrolysis coupled proton transport; proton transport; cellular iron ion homeostasis; ion transport; transport; cell growth; transferrin transport; transmembrane transport | 5q35.1 |
| ATP6V0E2 | cell growth; transferrin transport; transmembrane transport; vacuolar acidification; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; ion transport | 7q36.1 |
| ATP6V0E2-AS1 | - | 7q36.1 |
| ATP6V1A | ATP metabolic process; transmembrane transport; transferrin transport; proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; ion transport; transport | 3q13.31 |
| ATP6V1B1 | calcium ion homeostasis; transmembrane transport; ATP metabolic process; inner ear morphogenesis; ossification; cellular iron ion homeostasis; regulation of pH; excretion; sensory perception of sound; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; transferrin transport; ion transmembrane transport; pH reduction | 2p13.1 |
| ATP6V1B2 | ATP metabolic process; transmembrane transport; proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; ion transport; transferrin transport | 8p21.3 |
| ATP6V1C1 | ATP catabolic process; transmembrane transport; ion transmembrane transport; transferrin transport; proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; transport | 8q22.3 |
| ATP6V1C2 | transmembrane transport; ion transmembrane transport; transferrin transport; proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; ATP catabolic process | - |
| ATP6V1D | ion transport; transmembrane transport; transferrin transport; proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis | 14q23-q24.2 |
| ATP6V1E1 | ion transport; cellular iron ion homeostasis; ATP hydrolysis coupled proton transport; proton transport; transferrin transport; transmembrane transport; insulin receptor signaling pathway | 22q11.1 |
| ATP6V1E1P1 | - | 1p34.2 |
| ATP6V1E2 | ion transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; transferrin transport; transmembrane transport | 2p21 |
| ATP6V1F | ion transport; transmembrane transport; transferrin transport; proton transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport | 7q32 |
| ATP6V1G1 | transmembrane transport; ion transmembrane transport; transferrin transport; cellular iron ion homeostasis; proton transport; insulin receptor signaling pathway | 9q32 |
| ATP6V1G2 | proton transport; transmembrane transport; transferrin transport; insulin receptor signaling pathway; cellular iron ion homeostasis; ion transport | 6p21.3 |
| ATP6V1G3 | transferrin transport; ATP catabolic process; cellular iron ion homeostasis; insulin receptor signaling pathway; proton transport; transmembrane transport; ion transmembrane transport | 1q31.3 |
| ATP6V1H | regulation of catalytic activity; transmembrane transport; interspecies interaction between organisms; transferrin transport; viral reproduction; proton transport; ATP hydrolysis coupled proton transport; regulation of defense response to virus by virus; insulin receptor signaling pathway; vacuolar acidification; endocytosis; cellular iron ion homeostasis; ion transport; ATP catabolic process | 8q11.2 |
| ATP7A | neuroprotection; extracellular matrix organization; pigmentation; positive regulation of catalytic activity; serotonin metabolic process; norepinephrine biosynthetic process; dopamine metabolic process; norepinephrine metabolic process; epinephrine metabolic process; T-helper cell differentiation; ion transmembrane transport; hair follicle morphogenesis; collagen fibril organization; hindlimb morphogenesis; 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; elastin biosynthetic process; transmembrane transport; copper ion export; central nervous system neuron development; blood vessel development; in utero embryonic development; release of cytochrome c from mitochondria; blood vessel remodeling; regulation of oxidative phosphorylation; ATP catabolic p | Xq21.1 |
| ATP7B | copper ion export; transmembrane transport; sequestering of calcium ion; response to copper ion; ion transmembrane transport; cellular copper ion homeostasis; metal ion transport; intracellular copper ion transport; copper ion import; lactation; cellular zinc ion homeostasis; copper ion transport; ATP biosynthetic process; ATP catabolic process | 13q14.3 |
| ATP8A1 | aminophospholipid transport; ion transmembrane transport; phospholipid translocation; transmembrane transport; cation transport | 4p13 |
| ATP8A2 | phospholipid transport; negative regulation of cell proliferation; cation transport | 13q12 |
| ATP8A2P1 | - | - |
| ATP8A2P3 | - | - |
| ATP8B1 | bile acid metabolic process; cation transport; ATP catabolic process; bile acid and bile salt transport; ion transmembrane transport; phospholipid translocation; negative regulation of transcription, DNA-dependent; transmembrane transport | 18q21.31 |
| ATP8B2 | phospholipid transport; cation transport; ion transmembrane transport; ATP catabolic process; transmembrane transport | 1q21.3 |
| ATP8B3 | phospholipid translocation; phospholipid transport; binding of sperm to zona pellucida; ATP catabolic process; cation transport | 19p13.3 |
| ATP8B4 | phospholipid transport; cation transport | 15q21.2 |
| ATP8B5P | - | 9p13.3 |
| ATP9A | cation transport; phospholipid translocation | 20q13.2 |
| ATP9B | cation transport; aminophospholipid transport; phospholipid translocation; establishment of protein localization in Golgi | 18q23 |
| ATPAF1 | protein complex assembly | 1p33-p32.3 |
| ATPAF2 | proton-transporting ATP synthase complex assembly | 17p11.2 |
| ATPIF1 | negative regulation of nucleotide metabolic process; reactive oxygen species metabolic process; negative regulation of hydrolase activity; protein homotetramerization; negative regulation of catalytic activity; regulation of apoptotic process; generation of precursor metabolites and energy; negative regulation of endothelial cell proliferation; angiogenesis; protein homooligomerization | 1p35.3 |
| ATR | protein autophosphorylation; cellular response to gamma radiation; replicative senescence; positive regulation of DNA damage response, signal transduction by p53 class mediator; regulation of protein binding; cellular response to UV; peptidyl-serine phosphorylation; negative regulation of DNA replication; multicellular organismal development; response to DNA damage stimulus; protein phosphorylation; DNA repair; DNA replication; DNA damage checkpoint; cell cycle checkpoint; cell cycle | 3q23 |
| ATRAID | - | 2p23.3 |
| ATRIP | cell cycle checkpoint; DNA damage checkpoint; DNA replication; DNA repair | 3p21.31 |
| ATRN | inflammatory response; response to oxidative stress; regulation of multicellular organism growth; pigmentation | 20p13 |
| ATRNL1 | G-protein coupled receptor signaling pathway | 10q26 |
| ATRX | regulation of transcription, DNA-dependent; DNA duplex unwinding; forebrain development; DNA recombination; DNA methylation; DNA repair | Xq21.1 |
| ATXN1 | RNA processing; cell death; adult locomotory behavior; visual learning; negative regulation of phosphorylation; negative regulation of insulin-like growth factor receptor signaling pathway; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; nuclear export; regulation of excitatory postsynaptic membrane potential | 6p23 |
| ATXN10 | neuron projection development; cell death; nervous system development | 22q13.31 |
| ATXN1L | regulation of transcription, DNA-dependent | 16q22.2 |
| ATXN2 | regulation of translation; cell death; RNA metabolic process; cytoplasmic mRNA processing body assembly; stress granule assembly; negative regulation of multicellular organism growth; neuron projection morphogenesis; homeostasis of number of cells; RNA transport; neuromuscular process; cerebellar Purkinje cell differentiation | 12q24.1 |
| ATXN2L | - | 16p11 |
| ATXN3 | intermediate filament cytoskeleton organization; microtubule cytoskeleton organization; nucleotide-excision repair; regulation of transcription, DNA-dependent; proteolysis; synaptic transmission; nervous system development; cell death; actin cytoskeleton organization; regulation of cell-substrate adhesion | 14q21 |
| ATXN3L | proteolysis; regulation of transcription, DNA-dependent; protein deubiquitination | Xp22.2 |
| ATXN7 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of insulin-like growth factor receptor signaling pathway; negative regulation of phosphorylation; histone deubiquitination; cell death; visual perception; nucleus organization; regulation of transcription, DNA-dependent | 3p21.1-p12 |
| ATXN7L1 | - | 7q22.3 |
| ATXN7L2 | - | 1p13.3 |
| ATXN7L3 | positive regulation of transcription, DNA-dependent; histone deubiquitination; chromatin modification | 17q21.31 |
| ATXN7L3B | - | 12q21 |
| AUH | small molecule metabolic process; cellular nitrogen compound metabolic process; branched chain family amino acid catabolic process; mRNA catabolic process | 9q22.31 |
| AUNIP | - | 1p36.11 |
| AUP1 | - | 2p13 |
| AURKA | response to estradiol stimulus; regulation of protein stability; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell projection organization; mitosis; spindle organization; positive regulation of mitosis; protein phosphorylation; mitotic cell cycle; cell division; phosphatidylinositol-mediated signaling; protein autophosphorylation; regulation of centrosome cycle; cell cycle | 20q13 |
| AURKAIP1 | positive regulation of proteolysis; negative regulation of mitosis | 1p36.33 |
| AURKAPS1 | - | 1q41 |
| AURKB | cell proliferation; 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; 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; positive regulation of cell cycle cytokinesis | 17p13.1 |
| AURKC | spindle midzone assembly involved in mitosis; cytokinesis; histone modification; positive regulation of cell cycle cytokinesis; attachment of spindle microtubules to kinetochore; meiosis; mitosis; cell cycle; protein phosphorylation | 19q13.43 |
| AUTS2 | - | 7q11.22 |
| AVEN | apoptotic process; anti-apoptosis | 15q13.1 |
| AVIL | nervous system development; positive regulation of neuron projection development; actin filament capping; cilium morphogenesis; cytoskeleton organization; response to stress | 12q14.1 |
| AVL9 | - | 7p14.3 |
| AVPI1 | activation of MAPK activity; cell cycle | 10q24.2 |
| AVPR1A | positive regulation of glutamate secretion; myotube differentiation; calcium-mediated signaling; telencephalon development; positive regulation of cell growth; positive regulation of prostaglandin biosynthetic process; positive regulation of cellular pH reduction; social behavior; positive regulation of renal sodium excretion; response to stress; cellular response to water deprivation; maternal behavior; sperm ejaculation; penile erection; positive regulation of vasoconstriction; response to corticosterone stimulus; negative regulation of transmission of nerve impulse; response to inorganic substance; regulation of systemic arterial blood pressure by vasopressin; maternal aggressive behavior; positive regulation of systemic arterial blood pressure; generation of precursor metabolites and energy; G-protein coupled receptor signaling pathway; activation of phospholipase C activity; elevation of cytosolic calcium ion concentration; negative regulation of female receptivity; grooming behavior; blood circulation; | 12q14-q15 |
| AVPR2 | interferon-gamma production; transmembrane transport; negative regulation of renal sodium excretion; negative regulation of urine volume; response to cytokine stimulus; telencephalon development; positive regulation of gene expression; hemostasis; excretion; positive regulation of cell proliferation; I-kappaB kinase/NF-kappaB cascade; activation of adenylate cyclase activity; G-protein signaling, coupled to cAMP nucleotide second messenger; water transport; positive regulation of systemic arterial blood pressure | Xq28 |
| AWAT1 | lipid biosynthetic process | Xq13.1 |
| AWAT2 | lipid biosynthetic process; wax biosynthetic process | Xq13.1 |
| AXDND1 | - | 1q25.2 |
| AXIN1 | cellular response to organic cyclic compound; 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; olfactory placode formation; tail morphogenesis; negative regulation of transcription elongation from RNA polymerase II promoter; 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 involved in ubiquitin-dependent protein catabolic process; positive regulation of protein ubiquitination; cytoplasmic microtubule organization; regulation of catenin import into nucleus; positive regulation of transforming growth factor beta receptor signaling pathway; negative regulation of Wnt receptor signaling pathway; Wnt receptor signaling pathway involve | 16p13.3 |
| AXIN2 | regulation of mismatch repair; positive regulation of protein kinase activity; negative regulation of osteoblast differentiation; maintenance of DNA repeat elements; positive regulation of protein phosphorylation; intramembranous ossification; positive regulation of GTPase activity; odontogenesis; termination of G-protein coupled receptor signaling pathway; negative regulation of catenin import into nucleus; cellular protein localization; bone mineralization; regulation of Wnt receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; dorsal/ventral axis specification; negative regulation of cell proliferation; multicellular organismal development; positive regulation of cell death; chondrocyte differentiation involved in endochondral bone morphogenesis; regulation of chondrocyte development; regulation of centromeric sister chromatid cohesion; cellular response to organic cyclic compound; negative regulation of canonical Wnt receptor signaling pathway; Wnt receptor signaling pat | 17q23-q24 |
| AXL | secretion by cell; erythrocyte homeostasis; substrate adhesion-dependent cell spreading; ovulation cycle; apoptotic cell clearance; protein kinase B signaling cascade; negative regulation of neuron apoptosis; innate immune response; negative regulation of lymphocyte activation; vagina development; natural killer cell differentiation; 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; neuron migration | 19q13.1 |
| AZGP1 | lipid catabolic process; antigen processing and presentation; negative regulation of cell proliferation; cell adhesion; immune response | 7q22.1 |
| AZGP1P1 | - | 7q22.1 |
| AZGP1P2 | - | 7q22.1 |
| AZI2 | I-kappaB kinase/NF-kappaB cascade | 3p24.1 |
| AZIN1 | small molecule metabolic process; polyamine biosynthetic process; regulation of cellular amino acid metabolic process; cellular nitrogen compound metabolic process; negative regulation of catalytic activity; positive regulation of catalytic activity | 8q22.3 |
| AZIN2 | spermatogenesis; agmatine biosynthetic process; small molecule metabolic process; positive regulation of catalytic activity; cellular nitrogen compound metabolic process; polyamine biosynthetic process; polyamine metabolic process; ornithine metabolic process | 1p35.1 |
| AZU1 | induction of positive chemotaxis; defense response to Gram-negative bacterium; positive regulation of phagocytosis; positive regulation of fractalkine biosynthetic process; positive regulation of interleukin-1 beta biosynthetic process; macrophage chemotaxis; positive regulation of cell adhesion; positive regulation of MHC class II biosynthetic process; cellular extravasation; 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; regulation of vascular permeability | 19p13.3 |
| B2M | viral reproduction; immune response; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; cytokine-mediated signaling pathway; interferon-gamma-mediated signaling pathway; regulation of immune response; regulation of defense response to virus by 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 | 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 | protein glycosylation; oligosaccharide biosynthetic process | 1q31 |
| B3GALT4 | protein glycosylation | 6p21.3 |
| B3GALT5 | protein glycosylation | 21q22.3 |
| B3GALT5-AS1 | - | 21q22.2 |
| B3GALT6 | glycosaminoglycan biosynthetic process; protein glycosylation | 1p36.33 |
| B3GAT1 | metabolic process; carbohydrate metabolic process | 11q25 |
| B3GAT2 | - | 6q13 |
| B3GAT3 | glycosaminoglycan biosynthetic process | 11q12.3 |
| B3GLCT | carbohydrate metabolic process; fucose metabolic process | 13q12.3 |
| B3GNT2 | protein glycosylation; cellular protein metabolic process; post-translational protein modification; O-glycan processing; sensory perception of smell; axon guidance | 2p15 |
| B3GNT3 | O-glycan processing; post-translational protein modification; cellular protein metabolic process; protein glycosylation | 19p13.1 |
| B3GNT4 | protein glycosylation; O-glycan processing; post-translational protein modification; cellular protein metabolic process | 12q24 |
| B3GNT5 | multicellular organismal development; central nervous system development; protein glycosylation; metabolic process; glycolipid biosynthetic process; O-glycan processing; post-translational protein modification; cellular protein metabolic process | 3q28 |
| B3GNT6 | O-glycan processing; O-glycan processing, core 3; glycoprotein biosynthetic process; cellular protein metabolic process; protein glycosylation; post-translational protein modification | 11q13.4 |
| B3GNT7 | protein glycosylation; cellular protein metabolic process; post-translational protein modification; O-glycan processing | 2q37.1 |
| B3GNT8 | cellular protein metabolic process; post-translational protein modification; poly-N-acetyllactosamine biosynthetic process; O-glycan processing; protein glycosylation | 19q13.2 |
| B3GNT9 | protein glycosylation | 16q22.1 |
| B3GNTL1 | - | 17q25.3 |
| B4GALNT1 | spermatogenesis; lipid glycosylation; lipid storage; glycosphingolipid metabolic process; carbohydrate metabolic process; ganglioside biosynthetic process | 12q13.3 |
| B4GALNT2 | lipid glycosylation; protein glycosylation; UDP-N-acetylgalactosamine metabolic process; negative regulation of cell-cell adhesion; UDP-N-acetylglucosamine metabolic process | 17q21.32 |
| B4GALNT3 | - | 12p13.33 |
| B4GALNT4 | - | 11p15.5 |
| B4GALT1 | cellular protein metabolic process; post-translational protein modification; development of secondary sexual characteristics; 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; positive regulation of apoptosis involved in mammary gland involution; angiogenesis involved in wound healing; extracellular matrix organization; mammary gland development; epithelial cell development; acute inflammatory response; carbohydrate metabolic process; lactose biosynthetic process; galactose metabolic process; protein glycosylation; cell adhesion; binding of sperm to zona pellucida; penetration of zona pellucida; negative regulation of cell proliferation; oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine | 9p13 |
| B4GALT1-AS1 | - | - |
| B4GALT2 | post-translational protein modification; carbohydrate metabolic process; protein N-linked glycosylation via asparagine; cellular protein metabolic process | 1p34-p33 |
| B4GALT3 | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; carbohydrate metabolic process | 1q21-q23 |
| B4GALT4 | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; membrane lipid metabolic process; carbohydrate metabolic process | 3q13.3 |
| B4GALT4-AS1 | - | - |
| B4GALT5 | carbohydrate metabolic process; O-glycan processing; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 20q13.1-q13.2 |
| B4GALT6 | protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process; carbohydrate metabolic process | 18q11 |
| B4GALT7 | carbohydrate metabolic process; glycosaminoglycan biosynthetic process; proteoglycan metabolic process; protein modification process; fibril organization; negative regulation of fibroblast proliferation | 5q35.2-q35.3 |
| B9D1 | smoothened signaling pathway; cell projection organization; cilium assembly; cilium morphogenesis | 17p11.2 |
| B9D2 | M phase of mitotic cell cycle; cilium assembly; mitotic cell cycle; cell projection organization; mitotic prometaphase | 19q13.2 |
| BAALC | - | 8q22.3 |
| BAALC-AS1 | - | 8q22.3 |
| BAALC-AS2 | - | 8q22.3 |
| BAAT | taurine metabolic process; small molecule metabolic process; organ regeneration; bile acid and bile salt transport; bile acid metabolic process; bile acid biosynthetic process; fatty acid metabolic process; liver development; bile acid conjugation; glycine metabolic process; acyl-CoA metabolic process; lipid metabolic process | 9q22.3 |
| BAATP1 | - | 9q31.1 |
| BABAM1 | double-strand break repair; response to ionizing radiation; chromatin modification; G2/M transition DNA damage checkpoint; positive regulation of DNA repair; protein K63-linked deubiquitination | 19p13.11 |
| BACE1 | membrane protein ectodomain proteolysis; proteolysis; beta-amyloid metabolic process | 11q23.2-q23.3 |
| BACE1-AS | - | 11q23.3 |
| BACE2 | peptide hormone processing; proteolysis; membrane protein ectodomain proteolysis; negative regulation of amyloid precursor protein biosynthetic process | 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 | positive regulation of B cell differentiation; positive regulation of T cell differentiation; ADP metabolic process; ATP metabolic process; regulation of mitochondrial membrane permeability; pore complex assembly; nerve growth factor receptor signaling pathway; type B pancreatic cell proliferation; positive regulation of epithelial cell proliferation; cellular process regulating host cell cycle in response to virus; cellular response to mechanical stimulus; cellular response to nicotine; cellular response to lipid; cellular response to hypoxia; positive regulation of release of cytochrome c from mitochondria; positive regulation of type B pancreatic cell development; phosphatidylinositol-mediated signaling; positive regulation of apoptotic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; glucose catabolic process; apoptotic process; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; epidermal growth facto | 11q13.1 |
| BAG1 | response to nicotine; chaperone cofactor-dependent protein refolding; positive regulation of transcription from RNA polymerase II promoter; positive regulation of neuron apoptosis; response to drug; neuron differentiation; response to lithium ion; cell surface receptor signaling pathway; response to stress; anti-apoptosis | 9p12 |
| BAG2 | protein folding; protein metabolic process | 6p12.1-p11.2 |
| BAG3 | anti-apoptosis; brain development; spinal cord development; protein folding | 10q25.2-q26.2 |
| BAG4 | cellular response to tumor necrosis factor; protein folding; anti-apoptosis | 8p11.23 |
| BAG5 | negative regulation of protein ubiquitination; protein folding; negative regulation of ubiquitin-protein ligase activity; negative regulation of protein refolding; neuron death; regulation of inclusion body assembly | 14q32.33 |
| BAG6 | negative regulation of proteasomal ubiquitin-dependent protein catabolic process; lung development; 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; kidney development; transport; synaptonemal complex assembly; spermatogenesis; brain development; embryo development; tail-anchored membrane protein insertion into ER membrane; chromatin modification; internal peptidyl-lysine acetylation; cell differentiation; ubiquitin-dependent protein catabolic process | 6p21.3 |
| BAGE | - | 21p11.1 |
| BAGE2 | - | 21p |
| BAHCC1 | - | 17q25.3 |
| BAHD1 | heterochromatin assembly; negative regulation of transcription, DNA-dependent; chromatin modification | 15q15.1 |
| BAIAP2 | regulation of actin cytoskeleton organization; response to bacterium; insulin receptor signaling pathway; signal transduction; axonogenesis; filopodium assembly | 17q25 |
| BAIAP2-AS1 | - | 17q25.3 |
| BAIAP2L1 | filopodium assembly; signal transduction; response to bacterium; positive regulation of actin filament polymerization; positive regulation of actin cytoskeleton reorganization | 7q22.1 |
| BAIAP2L2 | cellular membrane organization; signal transduction; filopodium assembly | 22q13.1 |
| BAIAP3 | neurotransmitter secretion; G-protein coupled receptor signaling pathway | 16p13.3 |
| BAK1 | response to UV-C; response to ethanol; establishment or maintenance of transmembrane electrochemical gradient; response to gamma radiation; positive regulation of calcium ion transport into cytosol; negative regulation of gene expression; response to organic cyclic compound; endocrine pancreas development; organ regeneration; reduction of endoplasmic reticulum calcium ion concentration; negative regulation of peptidyl-serine phosphorylation; cellular response to UV; limb morphogenesis; response to drug; response to hydrogen peroxide; positive regulation of apoptotic process; regulation of protein homodimerization activity; regulation of protein heterodimerization activity; brain development; leukocyte homeostasis; B cell homeostasis; B cell apoptosis; release of cytochrome c from mitochondria; blood vessel remodeling; myeloid cell homeostasis; B cell negative selection; apoptotic process; response to mycotoxin; aging; mitochondrial fusion; negative regulation of cell proliferation; induction of apoptosis by e | 6p21.3 |
| BAK1P1 | - | 20q11.21 |
| BAMBI | negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of cell proliferation; regulation of cell shape; positive regulation of canonical Wnt receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; positive regulation of protein binding; positive regulation of catenin import into nucleus; positive regulation of transcription, DNA-dependent; cell migration | 10p12.3-p11.2 |
| BANCR | - | - |
| BANF1 | initiation of viral infection; provirus integration; viral reproduction; interspecies interaction between organisms; response to virus | 11q13.1 |
| BANF1P2 | - | 10q26.3 |
| BANF1P3 | - | - |
| BANF1P4 | - | - |
| BANF1P5 | - | 7q22.3 |
| BANF2 | - | 20p12.1 |
| BANK1 | B cell activation | 4q24 |
| BANP | chromatin modification; multicellular organismal development; cell cycle; regulation of transcription, DNA-dependent | 16q24 |
| BAP1 | protein deubiquitination; ubiquitin-dependent protein catabolic process; negative regulation of cell proliferation; chromatin modification; monoubiquitinated histone H2A deubiquitination; regulation of cell cycle; protein K48-linked deubiquitination; regulation of cell growth; protein modification process; proteolysis | 3p21.31-p21.2 |
| BARD1 | DNA repair; response to DNA damage stimulus; cell cycle arrest; spermatogenesis; protein ubiquitination; negative regulation of mRNA 3'-end processing; regulation of phosphorylation; positive regulation of apoptotic process; negative regulation of apoptotic process; positive regulation of protein catabolic process; negative regulation of protein export from nucleus; protein K6-linked ubiquitination; tissue homeostasis | 2q34-q35 |
| BARHL1 | negative regulation of neuron apoptosis; midbrain development; sensory perception of sound; neuron migration | 9q34 |
| BARHL2 | cell fate determination; regulation of transcription from RNA polymerase II promoter; nervous system development; neuron differentiation; regulation of axon extension; positive regulation of translation; neuron migration | 1p22.2 |
| BARX1 | negative regulation of Wnt receptor signaling pathway; spleen development; organ development; epithelial cell differentiation; digestive system development; regulation of transcription, DNA-dependent; cell-cell signaling; multicellular organismal development; tissue development; anterior/posterior pattern specification | 9q12 |
| BARX2 | positive regulation of transcription from RNA polymerase II promoter; catagen; myotube differentiation; cartilage condensation; negative regulation of transcription from RNA polymerase II promoter | 11q25 |
| BASP1 | positive regulation of metanephric ureteric bud development; glomerular visceral epithelial cell differentiation; metanephric mesenchyme development; diaphragm development; positive regulation of heart growth; mesenchymal to epithelial transition; negative regulation of transcription, DNA-dependent; gonad development; thorax and anterior abdomen determination | 5p15.1 |
| BASP1P1 | - | 13q12.12 |
| BATF | regulation of transcription, DNA-dependent | 14q24.3 |
| BATF2 | - | 11q13.1 |
| BATF3 | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 1q32.3 |
| BAX | positive regulation of intrinsic apoptotic signaling pathway; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; negative regulation of survival gene product expression; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; apoptotic mitochondrial changes; establishment or maintenance of transmembrane electrochemical gradient; nuclear fragmentation involved in apoptotic nuclear change; negative regulation of protein binding; positive regulation of protein oligomerization; release of matrix enzymes from mitochondria; positive regulation of apoptotic process; regulation of protein homodimerization activity; positive regulation of endoplasmic reticulum unfolded protein response; positive regulation of release of cytochrome c from mitochondria; apoptosis in response to endoplasmic reticulum stress; regulation of mitochondrial membrane potential; protein homooligomerization; protein oligomerization; induction of retinal programmed | 19q13.3-q13.4 |
| BAZ1A | chromatin remodeling; transcription, DNA-dependent; regulation of transcription, DNA-dependent; DNA-dependent DNA replication | 14q13.2 |
| BAZ1B | ATP-dependent chromatin remodeling; heart morphogenesis; double-strand break repair; chromatin assembly or disassembly; nucleosome disassembly; transcription, DNA-dependent; 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 | 7q11.23 |
| BAZ2A | histone deacetylation; regulation of transcription, DNA-dependent; transcription, DNA-dependent; chromatin remodeling; DNA methylation; chromatin silencing at rDNA | 12q13.3 |
| BAZ2B | regulation of transcription, DNA-dependent; transcription, DNA-dependent | 2q24.2 |
| BBC3 | activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; apoptotic process; protein insertion into mitochondrial membrane involved in induction of apoptosis; release of cytochrome c from mitochondria; determination of adult lifespan; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; positive regulation of protein homooligomerization; 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; positive regulation of thymocyte apoptosis; cellular response to hypoxia; positive regulation of release of cytochrome c from mitochondria; positive regulation of intrinsic apoptotic signaling pathway | 19q13.3-q13.4 |
| BBIP1 | cilium assembly | 10q25.2 |
| BBOF1 | - | 14q24.3 |
| BBOX1 | small molecule metabolic process; carnitine biosynthetic process; cellular nitrogen compound metabolic process | 11p14.2 |
| BBS1 | photoreceptor cell maintenance; response to stimulus; Golgi to plasma membrane protein transport; cilium assembly; nonmotile primary cilium assembly; retina homeostasis | 11q13 |
| BBS10 | chaperone-mediated protein complex assembly; response to stimulus; photoreceptor cell maintenance; cellular protein metabolic process; nonmotile primary cilium assembly; retina homeostasis | 12q21.2 |
| BBS12 | cellular protein metabolic process; chaperone-mediated protein complex assembly | 4q27 |
| BBS2 | 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; response to stimulus; cilium morphogenesis; regulation of cilium beat frequency involved in ciliary motility | 16q21 |
| BBS4 | adult behavior; regulation of cilium beat frequency involved in ciliary motility; nonmotile primary cilium assembly; microtubule anchoring at centrosome; protein localization to organelle; leptin-mediated signaling pathway; cell cycle cytokinesis; regulation of cytokinesis; melanosome transport; negative regulation of appetite; intracellular transport; cilium assembly; fat cell differentiation; photoreceptor cell maintenance; microtubule cytoskeleton organization; positive regulation of flagellum assembly; retinal rod cell development; cilium morphogenesis; convergent extension involved in gastrulation; pigment granule aggregation in cell center; maintenance of protein location in nucleus; centrosome organization; response to stimulus; sensory processing; brain morphogenesis; hippocampus development; cerebral cortex development; neural tube closure; retina homeostasis; heart looping; spermatid development; sensory perception of smell; dendrite development; regulation of lipid metabolic process; striatum devel | 15q22.3-q23 |
| BBS5 | melanosome transport; flagellum assembly; visual perception; cilium assembly; heart looping; response to stimulus | 2q31.1 |
| BBS7 | determination of left/right symmetry; heart looping; visual perception; cilium morphogenesis; pigment granule aggregation in cell center; melanosome transport; fat cell differentiation; response to stimulus; digestive tract morphogenesis | 4q27 |
| BBS9 | response to stimulus; visual perception; fat cell differentiation | 7p14 |
| BBX | regulation of transcription, DNA-dependent | 3q13.1 |
| BCAM | cell adhesion; cell-matrix adhesion; signal transduction | 19q13.2 |
| BCAN | cell adhesion; hippocampus development; regulation of neuronal synaptic plasticity | 1q31 |
| BCAP29 | intracellular protein transport; apoptotic process; vesicle-mediated transport | 7q22.3 |
| BCAP31 | intracellular protein transport; antigen processing and presentation of peptide antigen via MHC class I; calcium-mediated signaling using intracellular calcium source; cellular component disassembly involved in apoptosis; immune response; positive regulation of intrinsic apoptotic signaling pathway; elevation of mitochondrial calcium ion concentration; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; elevation of cytosolic calcium ion concentration; vesicle-mediated transport; reduction of endoplasmic reticulum calcium ion concentration | Xq28 |
| BCAR1 | cell adhesion; regulation of cell growth; actin filament organization; insulin receptor signaling pathway; cell migration; signal transduction; cell division; B cell receptor signaling pathway; G-protein coupled receptor signaling pathway; epidermal growth factor receptor signaling pathway; integrin-mediated signaling pathway; T cell receptor signaling pathway; antigen receptor-mediated signaling pathway; hepatocyte growth factor receptor signaling pathway; 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 chemotaxis; blood coagulation; cell proliferation | 16q23.1 |
| BCAR3 | signal transduction; small GTPase mediated signal transduction; response to drug | 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 | G1/S transition of mitotic cell cycle; branched chain family amino acid biosynthetic process; branched chain family amino acid catabolic process; cellular nitrogen compound metabolic process; cell proliferation; small molecule metabolic process | 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 | regulation of cyclin-dependent protein kinase activity; neuroendocrine cell differentiation; cell cycle; DNA repair | 10q26.1 |
| BCDIN3D | - | 12q13.12 |
| BCHE | synaptic transmission, cholinergic; response to nutrient; metabolic process; choline metabolic process; response to drug; response to alkaloid; cocaine metabolic process; negative regulation of synaptic transmission; response to glucocorticoid stimulus; response to folic acid; learning | 3q26.1-q26.2 |
| BCKDHA | small molecule metabolic process; cellular nitrogen compound metabolic process; branched chain family amino acid catabolic process | 19q13.1-q13.2 |
| BCKDHB | response to cAMP; branched chain family amino acid catabolic process; response to nutrient; cellular nitrogen compound metabolic process; small molecule metabolic process; response to glucocorticoid stimulus | 6q14.1 |
| BCKDK | peptidyl-histidine phosphorylation; cellular amino acid catabolic process; branched chain family amino acid catabolic process; phosphorylation | 16p11.2 |
| BCL10 | interleukin-6 biosynthetic process; T cell receptor signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of interleukin-8 biosynthetic process; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; positive regulation of phosphorylation; positive regulation of NF-kappaB transcription factor activity; response to chemical stimulus; lymphotoxin A biosynthetic process; positive regulation of mast cell cytokine production; positive regulation of protein ubiquitination; immunoglobulin mediated immune response; response to fungus; cell death; cellular defense response; positive regulation of T cell activation; response to molecule of bacterial origin; protein oligomerization; protein homooligomerization; cellular response to mechanical stimulus; regulation of T cell receptor signaling pathway; toll-like receptor signaling pathway; neural tube closure; adaptive immune response; induction of apoptosis; apoptotic proces | 1p22 |
| BCL11A | B cell differentiation; negative regulation of dendrite development; regulation of dendrite development; positive regulation of collateral sprouting; hemopoiesis; T cell differentiation; negative regulation of collateral sprouting; positive regulation of transcription from RNA polymerase II promoter; protein sumoylation; negative regulation of protein homooligomerization; negative regulation of neuron projection development; negative regulation of axon extension; positive regulation of neuron projection development; negative regulation of gene expression; regulation of transcription, DNA-dependent | 2p16.1 |
| BCL11B | alpha-beta T cell differentiation; positive regulation of transcription from RNA polymerase II promoter; skin development; positive T cell selection; regulation of keratinocyte proliferation; keratinocyte development; epithelial cell morphogenesis; negative regulation of cell proliferation; regulation of lipid metabolic process; striatal medium spiny neuron differentiation; central nervous system neuron differentiation; post-embryonic camera-type eye development; T cell differentiation in thymus; negative regulation of apoptotic process; odontogenesis of dentin-containing tooth; axonogenesis; regulation of transcription, DNA-dependent; thymus development; T cell receptor V(D)J recombination | 14q32.2 |
| BCL2 | protein dephosphorylation; regulation of cell-matrix adhesion; lymphoid progenitor cell differentiation; B cell lineage commitment; T cell lineage commitment; immune system development; renal system process; humoral immune response; release of cytochrome c from mitochondria; B cell homeostasis; response to hypoxia; behavioral fear response; branching involved in ureteric bud morphogenesis; ureteric bud development; metanephros development; ovarian follicle development; cell morphogenesis; protein polyubiquitination; G1/S transition of mitotic cell cycle; female pregnancy; response to heat; response to radiation; activation of pro-apoptotic gene products; induction of apoptosis by intracellular signals; male gonad development; cell death; response to nutrient; cell aging; melanin metabolic process; brain development; actin filament organization; response to oxidative stress; response to DNA damage stimulus; response to external stimulus; anti-apoptosis; apoptotic process; regulation of nitrogen utilization; ea | 18q21.3 |
| BCL2A1 | anti-apoptosis; regulation of apoptotic process | 15q24.3 |
| BCL2L1 | 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; germ cell development; 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; negative regulation of release of cytochrome c from mitochondria; negative regulation of intrinsic apoptotic signaling pathway; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; growth; cytokinesis; ovarian follicle development; in utero embryonic development; release of cytochrome c from mitochondria; apoptotic process; anti-apoptosis; spermat | 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 | ear development; positive regulation of cell cycle; regulation of organ growth; nerve growth factor receptor signaling pathway; regulation of developmental pigmentation; spleen development; thymus development; post-embryonic organ morphogenesis; cellular process regulating host cell cycle in response to virus; positive regulation of release of cytochrome c from mitochondria; positive regulation of intrinsic apoptotic signaling pathway; positive regulation of apoptotic process; male gonad development; apoptotic process; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; cell-matrix adhesion; in utero embryonic development; positive regulation of neuron apoptosis; spermatogenesis; myeloid cell homeostasis; kidney development; B cell apoptosis; induction of apoptosis by extracellular signals; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; post-embryonic development; mammary gland development; positive regulation o | 2q13 |
| BCL2L12 | apoptotic process | 19q13.3 |
| BCL2L13 | activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; regulation of apoptotic process | 22q11.1 |
| BCL2L14 | regulation of apoptotic process; apoptotic process | 12p13-p12 |
| BCL2L15 | apoptotic process | 1p13.2 |
| BCL2L2 | spermatogenesis; Sertoli cell proliferation; anti-apoptosis; negative regulation of apoptotic process | 14q11.2-q12 |
| BCL3 | negative regulation of interleukin-8 biosynthetic process; negative regulation of tumor necrosis factor biosynthetic 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; 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; regulation of apoptotic process; T-helper 1 type immune response; regulation of NF-kappaB import into nucleus; protein import into nucleus, translocation; follicular dendritic cell differentiation; marginal zone B cell differentiation; humoral immune response mediated by circulating immunoglobulin | 19q13.1-q13.2 |
| BCL6 | regulation of Rho GTPase activity; 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; positive regulation of B cell proliferation; negative regulation of cell growth; B cell differentiation; actin cytoskeleton organization; negative regulation of cell proliferation; protein localization; spermatogenesis; response to DNA damage stimulus; negative regulation of B cell apoptosis; negative regulation of type 2 immune response | 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 | positive regulation of epithelial to mesenchymal transition; regulation of transcription, DNA-dependent; regulation of cell morphogenesis; negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter | 11q23.3 |
| BCLAF1 | induction of apoptosis; positive regulation of apoptotic process; positive regulation of intrinsic apoptotic signaling pathway; regulation of DNA-dependent transcription in response to stress; negative regulation of transcription, DNA-dependent; positive regulation of transcription initiation, DNA-dependent; positive regulation of response to DNA damage stimulus | 6q22-q23 |
| BCO1 | steroid metabolic process; small molecule metabolic process; retinoid metabolic process | 16q23.2 |
| BCO2 | retinal metabolic process; retinoic acid metabolic process; carotene metabolic process | 11q23.1 |
| BCOR | heart development; chromatin modification; negative regulation of histone H3-K4 methylation; 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; palate development; specification of axis polarity; negative regulation of tooth mineralization | Xp11.4 |
| BCORL1 | regulation of transcription, DNA-dependent; chromatin modification | Xq25-q26.1 |
| BCORP1 | - | Yq11.222 |
| BCR | regulation of Rho protein signal transduction; inner ear morphogenesis; regulation of cell cycle; regulation of small GTPase mediated signal transduction; neuromuscular process controlling balance; positive regulation of phagocytosis; negative regulation of inflammatory response; positive regulation of GTPase activity; negative regulation of neutrophil degranulation; signal transduction; small GTPase mediated signal transduction; brain development; actin cytoskeleton organization; negative regulation of cell migration; response to lipopolysaccharide; protein phosphorylation | 22q11.23 |
| BCRP1 | - | 22q11.23 |
| BCRP2 | - | 22q11.21 |
| BCRP5 | - | 22q11.21 |
| BCRP8 | - | 22q11.23 |
| BCS1L | mitochondrial respiratory chain complex III assembly; mitochondrial respiratory chain complex IV assembly; mitochondrial respiratory chain complex I assembly; mitochondrion organization | 2q33 |
| BCYRN1 | - | 2p21 |
| BDH1 | response to estradiol stimulus; 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; response to starvation; response to drug; response to insulin stimulus; liver development; response to hormone stimulus; response to toxin; metabolic process; response to nutrient; brain development; cellular lipid metabolic process | 3q29 |
| BDH2 | fatty acid beta-oxidation; iron ion homeostasis; heme metabolic process; siderophore biosynthetic process | 4q24 |
| BDH2P1 | - | 6q16.2 |
| BDKRB1 | elevation of cytosolic calcium ion concentration; positive regulation of release of sequestered calcium ion into cytosol; negative regulation of blood pressure; response to lipopolysaccharide; negative regulation of cell growth; sensory perception of pain; cell migration; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; inflammatory response; positive regulation of leukocyte migration; negative regulation of protein phosphorylation | 14q32.1-q32.2 |
| BDKRB2 | transmembrane receptor protein tyrosine kinase signaling pathway; arachidonic acid secretion; regulation of vascular permeability; regulation of vasoconstriction; blood circulation; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration; inflammatory response; smooth muscle contraction; cell surface receptor signaling pathway | 14q32.1-q32.2 |
| BDNF | dendrite development; inner ear development; 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; mechanoreceptor differentiation; nerve development; regulation of metabolic process; glutamate secretion; neuron recognition; feeding behavior; learning or memory; axon target recognition; axon guidance; negative regulation of neuroblast proliferation; nervous system development; anti-apoptosis; ureteric bud development | 11p13 |
| BDNF-AS | - | 11p14.1 |
| BDP1 | transcription from RNA polymerase III promoter; gene expression; regulation of transcription, DNA-dependent | 5q13 |
| BEAN1 | cell death | 16q21 |
| BECN1 | cellular defense response; autophagic vacuole assembly; cytokinesis; autophagy; anti-apoptosis; negative regulation of cell proliferation; response to virus; positive regulation of macroautophagy; cell cycle | 17q21 |
| BEGAIN | - | 14q32.2 |
| BEND2 | - | Xp22.13 |
| BEND3 | - | 6q21 |
| BEND3P3 | - | 10q22.3 |
| BEND4 | - | 4p13 |
| BEND5 | - | 1p33 |
| BEND6 | - | 6p12.1 |
| BEND7 | - | 10p13 |
| BEST1 | ion transport; chloride transport; visual perception; transepithelial chloride transport; response to stimulus | 11q13 |
| BEST2 | ion transport; chloride transport; sensory perception of smell; membrane depolarization | 19p13.2 |
| BEST3 | ion transmembrane transport; negative regulation of ion transport | 12q14.2-q15 |
| BEST4 | ion transport | 1p33-p32.3 |
| BET1 | vesicle-mediated transport; vesicle fusion with Golgi apparatus; protein transport; ER to Golgi vesicle-mediated transport | 7q21.1-q22 |
| BET1L | retrograde transport, endosome to Golgi; protein transport | 11p15.5 |
| BEX1 | nervous system development; multicellular organismal development; cell differentiation; 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 | lens fiber cell development; response to stimulus; cell maturation; intermediate filament cytoskeleton organization; visual perception | 3q22.1 |
| BGLAP | response to inorganic substance; 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 nutrient levels; regulation of bone mineralization; bone mineralization; response to activity; response to zinc ion; response to gravity; response to mechanical stimulus; regulation of osteoclast differentiation; response to glucocorticoid stimulus; bone development; cellular response to vitamin D; cell aging; cell adhesion; osteoblast development; osteoblast differentiation; skeletal system development | 1q22 |
| BGLT3 | - | 11p15.4 |
| BGN | blood vessel remodeling; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan | Xq28 |
| BHLHA15 | G-protein coupled receptor signaling pathway; Golgi organization; mitochondrial calcium ion transport; regulation of transcription, DNA-dependent; cell-cell signaling; calcium-mediated signaling; positive regulation of transcription from RNA polymerase II promoter; intracellular distribution of mitochondria; cell maturation; glucose homeostasis | 7q21.3 |
| BHLHA9 | regulation of transcription, DNA-dependent | 17p13.3 |
| BHLHB9 | - | Xq23 |
| BHLHE23 | post-embryonic eye morphogenesis; regulation of transcription, DNA-dependent; negative regulation of retinal cell programmed cell death; positive regulation of transcription from RNA polymerase II promoter | 20q13.33 |
| BHLHE40 | circadian regulation of gene expression; regulation of neuronal synaptic plasticity; negative regulation of sequence-specific DNA binding transcription factor activity; entrainment of circadian clock by photoperiod; response to light stimulus; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 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 | sulfur amino acid metabolic process; protein methylation; methionine biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process; regulation of homocysteine metabolic process | 5q14.1 |
| BHMT2 | methionine biosynthetic process | 5q13 |
| BICC1 | multicellular organismal development; negative regulation of canonical Wnt receptor signaling pathway | 10q21.1 |
| BICD1 | positive regulation of receptor-mediated endocytosis; stress granule assembly; protein localization to organelle; viral reproduction; anatomical structure morphogenesis; intracellular mRNA localization; transport; RNA processing; minus-end-directed organelle transport along microtubule; microtubule anchoring at microtubule organizing center | 12p11.2-p11.1 |
| BICD2 | microtubule anchoring at microtubule organizing center; transport; minus-end-directed organelle transport along microtubule | 9q22.31 |
| BID | positive regulation of protein homooligomerization; positive regulation of protein oligomerization; response to estradiol stimulus; activation of pro-apoptotic gene products; regulation of G1/S transition of mitotic cell cycle; apoptotic mitochondrial changes; glial cell apoptosis; regulation of cell proliferation; positive regulation of apoptotic process; regulation of mitochondrial membrane permeability; neuron apoptosis; establishment of protein localization in membrane; positive regulation of release of cytochrome c from mitochondria; induction of apoptosis by intracellular signals; induction of apoptosis via death domain receptors; brain development; apoptotic process; protein targeting to mitochondrion; release of cytochrome c from mitochondria | 22q11.1 |
| BIK | regulation of apoptotic process; positive regulation of release of cytochrome c from mitochondria; induction of apoptosis; spermatogenesis; male gonad development; positive regulation of protein homooligomerization | 22q13.31 |
| BIN1 | positive regulation of endocytosis; interspecies interaction between organisms; multicellular organismal development; cell proliferation; muscle cell differentiation; positive regulation of GTPase activity | 2q14 |
| BIN2 | - | 12q13 |
| BIN2P1 | - | 4q21.22 |
| BIN3 | protein localization; cytokinesis; barrier septum assembly; actin filament organization; cell cycle; unidimensional cell growth | 8p21.3 |
| BIN3-IT1 | - | 8p21.3 |
| BIRC2 | regulation of RIG-I signaling pathway; regulation of cysteine-type endopeptidase activity; NIK/NF-kappaB cascade; positive regulation of I-kappaB kinase/NF-kappaB cascade; proteasomal ubiquitin-dependent protein catabolic process; regulation of innate immune response; regulation of cell differentiation; regulation of inflammatory response; regulation of cell cycle; negative regulation of apoptotic process; regulation of cell proliferation; regulation of toll-like receptor signaling pathway; cell surface receptor signaling pathway; cellular component disassembly involved in apoptosis; anti-apoptosis; apoptotic process; placenta development; protein polyubiquitination; regulation of nucleotide-binding oligomerization domain containing signaling pathway | 11q22 |
| BIRC3 | anti-apoptosis; regulation of cysteine-type endopeptidase activity; regulation of nucleotide-binding oligomerization domain containing signaling pathway; regulation of inflammatory response; regulation of innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; regulation of RIG-I signaling pathway; NIK/NF-kappaB cascade; regulation of toll-like receptor signaling pathway; cell surface receptor signaling pathway | 11q22 |
| BIRC5 | G2/M transition of mitotic cell cycle; establishment of chromosome localization; positive regulation of mitotic cell cycle; cell division; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; cytokinesis; protein phosphorylation; anti-apoptosis; chromosome segregation; positive regulation of cell proliferation; protein complex localization; positive regulation of exit from mitosis; spindle checkpoint; regulation of apoptotic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of transcription, DNA-dependent; mitosis | 17q25 |
| BIRC6 | labyrinthine layer development; regulation of cell proliferation; protein phosphorylation; apoptotic process; spongiotrophoblast layer development; positive regulation of cell proliferation; protein ubiquitination; regulation of cytokinesis; anti-apoptosis | 2p22.3 |
| BIRC6-AS1 | - | - |
| BIRC7 | anti-apoptosis; activation of JUN kinase activity; regulation of natural killer cell apoptosis; regulation of cell proliferation; DNA fragmentation involved in apoptotic nuclear change; protein ubiquitination; apoptotic process | 20q13.3 |
| BIVM | - | 13q33.1 |
| BLACAT1 | - | 1q32.1 |
| BLACE | - | 7q36 |
| BLCAP | cell cycle; apoptotic process | 20q11.23 |
| BLID | apoptotic process | 11q24.1 |
| BLK | B cell receptor signaling pathway; positive regulation of insulin secretion; intracellular protein kinase cascade | 8p23-p22 |
| BLM | G2 phase of mitotic cell cycle; telomere maintenance; double-strand break repair via homologous recombination; DNA strand renaturation; ATP catabolic process; DNA replication; DNA repair; DNA recombination; response to DNA damage stimulus; response to X-ray; replication fork processing; G2/M transition DNA damage checkpoint; regulation of cyclin-dependent protein kinase activity; cellular metabolic process; positive regulation of transcription, DNA-dependent; negative regulation of DNA recombination; negative regulation of mitotic recombination; alpha-beta T cell differentiation; positive regulation of alpha-beta T cell proliferation; replication fork protection; regulation of binding; protein oligomerization; negative regulation of cell division; chromosome organization | 15q26.1 |
| BLMH | antigen processing and presentation of peptide antigen via MHC class I; protein polyubiquitination; response to drug; response to toxin; proteolysis; metabolic process | 17q11.2 |
| BLNK | inflammatory response; intracellular signal transduction; B cell differentiation; transmembrane receptor protein tyrosine kinase signaling pathway; humoral immune response | 10q23.2-q23.33 |
| BLOC1S1 | post-Golgi vesicle-mediated transport; cellular membrane organization; melanosome organization; platelet dense granule organization | 12q13-q14 |
| BLOC1S2 | melanosome organization; regulation of apoptotic process; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; platelet dense granule organization; positive regulation of cell proliferation; microtubule nucleation | 10q24.31 |
| BLOC1S3 | eye development; response to drug; post-Golgi vesicle-mediated transport; cellular membrane organization; platelet activation; pigmentation; developmental pigmentation; melanosome organization; platelet dense granule organization; secretion of lysosomal enzymes; positive regulation of natural killer cell activation | 19q13.32 |
| BLOC1S4 | - | 4p16.1 |
| BLOC1S5 | - | 6p25.1-p24.3 |
| BLOC1S6 | - | 15q21.1 |
| BLVRA | porphyrin-containing compound metabolic process; heme catabolic process; small molecule metabolic process; oxidation-reduction process | 7p13 |
| BLVRB | heme catabolic process; porphyrin-containing compound metabolic process; small molecule metabolic process | 19q13.1-q13.2 |
| BLZF1 | regulation of cell growth; Golgi to plasma membrane protein transport; vesicle-mediated transport; protein transport; cell proliferation; Golgi organization; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 1q24 |
| BLZF2P | - | 14q24.1 |
| BMF | positive regulation of protein homooligomerization; regulation of apoptotic process; positive regulation of release of cytochrome c from mitochondria; apoptotic process; activation of pro-apoptotic gene products; induction of apoptosis by intracellular signals | 15q14 |
| BMI1 | 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; rostrocaudal neural tube patterning; hemopoiesis; positive regulation of immature T cell proliferation in thymus; negative regulation of transcription from RNA polymerase II promoter; in utero embryonic development; regulation of transcription, DNA-dependent; humoral immune response; segment specification; brain development; regulation of gene expression; chromatin modification; histone acetylation; histone ubiquitination; positive regulation of B cell proliferation | 10p11.23 |
| BMP1 | positive regulation of cartilage development; small molecule metabolic process; cell differentiation; multicellular organismal development; lipoprotein metabolic process; lipid metabolic process; proteolysis; ossification; cartilage condensation; skeletal system development | 8p21.3 |
| BMP10 | Notch signaling pathway; atrial cardiac muscle tissue morphogenesis; positive regulation of transcription, DNA-dependent; sarcomere organization; growth; ventricular cardiac muscle tissue morphogenesis; ventricular cardiac muscle cell development; cardiac muscle cell proliferation; positive regulation of cardiac muscle cell proliferation; heart trabecula formation; pathway-restricted SMAD protein phosphorylation; activin receptor signaling pathway; positive regulation of pathway-restricted SMAD protein phosphorylation; multicellular organismal development; adult heart development; negative regulation of endothelial cell migration; positive regulation of cardiac muscle hypertrophy; negative regulation of cardiac muscle hypertrophy; BMP signaling pathway; negative regulation of cell migration; negative regulation of cell growth | 2p13.3 |
| BMP15 | granulosa cell development; female gamete generation; ovarian follicle development | Xp11.2 |
| BMP2 | positive regulation of apoptotic process; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of cell cycle; positive regulation of ossification; positive regulation of osteoblast differentiation; positive regulation of neuron differentiation; positive regulation of fat cell differentiation; cell fate commitment; cardiac muscle tissue morphogenesis; ovulation cycle; regulation of odontogenesis of dentin-containing tooth; positive regulation of odontogenesis; odontogenesis of dentin-containing tooth; growth; positive regulation of astrocyte differentiation; mesenchymal cell differentiation; inner ear development; positive regulation of neurogenesis; oxidation-reduction process; pericardium development; corticotropin hormone secreting cell differentiation; thyroid-stimulating hormone-secreting cell differentiation; cardiac epithelial to mesenchymal transition; pathway-r | 20p12 |
| BMP2K | regulation of bone mineralization; regulation of catalytic activity | 4q21.21 |
| BMP3 | cartilage development; positive regulation of transcription from RNA polymerase II promoter; growth; multicellular organismal development; cell differentiation; cell-cell signaling; ossification; skeletal system development | 4q21 |
| BMP4 | positive regulation of cardiac muscle fiber development; positive chemotaxis; branching morphogenesis of a tube; smooth muscle tissue development; positive regulation of smooth muscle cell proliferation; intermediate mesodermal cell differentiation; lung alveolus 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 striated muscle tissue development; negative regulation of mitosis; negative regulation of cell cycle; positive regulation of ossification; positive regulation of osteoblast differentiation; negative regulation of myoblast differentiation; negative regulation of MAP kinase activity; steroid hormone mediated signaling pathway; negative regulation of apoptotic process; positive regulation of apoptotic process; odontogenesis; negative regulation of cell death; specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway; ne | 14q22-q23 |
| BMP5 | growth; cartilage development; male genitalia development; cell differentiation; pattern specification process; ossification; skeletal system development | 6p12.1 |
| BMP6 | positive regulation of osteoblast differentiation; SMAD protein signal transduction; cartilage development; positive regulation of transcription from RNA polymerase II promoter; 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; multicellular organismal development; immune response; inflammatory response; positive regulation of bone mineralization; endochondral ossification; positive regulation of endothelial cell proliferation; kidney development; eye development; skeletal system development | 6p24-p23 |
| BMP7 | anatomical structure formation involved in morphogenesis; embryonic skeletal joint morphogenesis; branching morphogenesis of a tube; mesenchymal cell differentiation; neuron projection morphogenesis; negative regulation of neurogenesis; cartilage development; positive regulation of osteoblast differentiation; 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; negative regulation of Notch signaling pathway; 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; neg | 20q13 |
| BMP8A | growth; cartilage development; cell differentiation; multicellular organismal development; ossification | 1p34.3 |
| BMP8B | cartilage development; growth; cell differentiation; multicellular organismal development; skeletal system development; ossification | 1p35-p32 |
| BMPER | regulation of pathway-restricted SMAD protein phosphorylation; endothelial cell activation; blood vessel endothelial cell proliferation involved in sprouting angiogenesis; regulation of endothelial cell migration; positive regulation of ERK1 and ERK2 cascade; negative regulation of BMP signaling pathway; ureteric bud development | 7p14.3 |
| BMPR1A | positive regulation of bone mineralization; BMP signaling pathway; hindlimb morphogenesis; odontogenesis of dentin-containing tooth; embryonic digit morphogenesis; positive regulation of osteoblast differentiation; paraxial mesoderm development; paraxial mesoderm structural organization; lateral mesoderm development; regulation of lateral mesodermal cell fate specification; mesendoderm development; embryonic organ development; heart formation; developmental growth; positive regulation of epithelial cell proliferation; negative regulation of neurogenesis; cartilage development; palate development; endocardial cushion formation; positive regulation of SMAD protein import into nucleus; neural plate pattern specification; cell differentiation; lung development; in utero embryonic development; mesoderm formation; somitogenesis; Mullerian duct regression; positive regulation of mesenchymal cell proliferation; protein phosphorylation; immune response; transforming growth factor beta receptor signaling pathway; ectod | 10q22.3 |
| BMPR1APS1 | - | 6q22.33 |
| BMPR1B | skeletal system development; 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; ovarian cumulus expansion; cartilage condensation | 4q22-q24 |
| BMPR2 | positive regulation of BMP signaling pathway; vascular endothelial growth factor receptor signaling pathway; lung alveolus development; negative regulation of vasoconstriction; positive regulation of osteoblast differentiation; regulation of cell proliferation; retina development in camera-type eye; BMP signaling pathway; positive regulation of bone mineralization; negative regulation of cell growth; regulation of lung blood pressure; positive regulation of pathway-restricted SMAD protein phosphorylation; positive regulation of endothelial cell migration; anterior/posterior pattern specification; cellular response to starvation; brain development; transmembrane receptor protein serine/threonine kinase signaling pathway; transcription from RNA polymerase II promoter; negative regulation of systemic arterial blood pressure; positive regulation of endothelial cell proliferation; mesoderm formation; positive regulation of epithelial cell migration | 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 | induction of apoptosis; anti-apoptosis; apoptotic process; autophagy; endoplasmic reticulum organization; vesicle-mediated transport; endoplasmic reticulum membrane fusion | 5q33-q34 |
| BNIP2 | apoptotic process; anti-apoptosis; muscle cell differentiation; positive regulation of MAPK cascade; positive regulation of GTPase activity; positive regulation of neuron differentiation; positive regulation of small GTPase mediated signal transduction; striated muscle cell differentiation; positive regulation of muscle cell differentiation | 15q22.2 |
| BNIP3 | negative regulation of mitochondrial fusion; chromatin remodeling; apoptotic process; anti-apoptosis; induction of apoptosis; cell death; induction of apoptosis by intracellular signals; negative regulation of survival gene product expression; DNA fragmentation involved in apoptotic nuclear change; response to hypoxia; positive regulation of protein complex disassembly; mitochondrial fragmentation involved in apoptosis; interspecies interaction between organisms; negative regulation of membrane potential; regulation of mitochondrial membrane permeability; autophagic cell death; brown fat cell differentiation; defense response to virus; neuron apoptosis; positive regulation of release of cytochrome c from mitochondria; positive regulation of mitochondrial fission; reactive oxygen species metabolic process; cellular response to hypoxia; cellular response to mechanical stimulus; cellular response to hydrogen peroxide; response to hyperoxia; cellular response to cobalt ion | 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; induction of apoptosis; negative regulation of cell proliferation; regulation of growth rate | 1q21.3 |
| BOC | cell adhesion; muscle cell differentiation; positive regulation of myoblast differentiation; positive regulation of muscle cell differentiation | 3q13.2 |
| BOD1 | mitosis; cell cycle; cell division | 5q35.2 |
| BOD1L1 | - | 4p16.1 |
| BOK | oligodendrocyte differentiation; signal transduction by p53 class mediator resulting in induction of apoptosis; male gonad development; cell proliferation; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; apoptotic process; brain development | 2q37.3 |
| BOK-AS1 | - | 2q37.3 |
| BOLA1 | - | 1q21 |
| BOLA2 | - | 16p11.2 |
| BOLA2B | - | 16p11.2 |
| BOLA3 | - | 2p13.1 |
| BOLA3-AS1 | - | - |
| BOLL | multicellular organismal development; regulation of translation; meiosis; spermatogenesis; cell differentiation; positive regulation of translational initiation | 2q33 |
| BORA | regulation of mitosis; regulation of protein localization; regulation of mitotic spindle organization; cell division; 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 | response to toxin; cellular amino acid metabolic process | 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 | nucleobase-containing compound metabolic process; xenobiotic metabolic process; nervous system development; dephosphorylation; small molecule metabolic process; phosphatidylinositol phosphorylation; 3'-phosphoadenosine 5'-phosphosulfate metabolic process | 1q41 |
| BPTF | positive regulation of transcription, DNA-dependent; brain development; negative regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent; chromatin remodeling; regulation of transcription, DNA-dependent | 17q24.3 |
| BPY2C | single fertilization; spermatogenesis | Yq11.223 |
| BRAF | protein phosphorylation; activation of MAPKK activity; anti-apoptosis; small GTPase mediated signal transduction; synaptic transmission; fibroblast growth factor receptor signaling pathway; organ morphogenesis; positive regulation of gene expression; negative regulation of apoptotic process; response to peptide hormone stimulus; negative regulation of neuron apoptosis; nerve growth factor receptor signaling pathway; response to cAMP; positive regulation of ERK1 and ERK2 cascade; positive regulation of peptidyl-serine phosphorylation | 7q34 |
| BRAFP1 | - | Xq13.3 |
| BRAP | protein ubiquitination; negative regulation of signal transduction; Ras protein signal transduction; MAPK cascade | 12q24 |
| BRAT1 | response to ionizing radiation | 7p22.3 |
| BRCA1 | 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 histone H4-K20 methylation; positive regulation of cell cycle arrest; cellular response to indole-3-methanol; protein K6-linked ubiquitination; regulation of cell motility; positive regulation of histone H3-K9 acetylation; positive regulation of histone H4-K16 acetylation; substrate adhesion-dependent cell spreading; regulation of transcription from RNA polymerase III promoter; DNA damage response, signal transduction resulting in induction of apoptosis; response to nutrient; brain development; centrosome cycle; chromosome segregation; cell cycle; DNA damage response, signal transduction by p53 cl | 17q21 |
| BRCA2 | response to estradiol stimulus; regulation of cytokinesis; cell cycle cytokinesis; negative regulation of mammary gland epithelial cell proliferation; multicellular organism growth; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; chordate embryonic development; histone H3 acetylation; histone H4 acetylation; positive regulation of transcription, DNA-dependent; positive regulation of mitotic cell cycle; replication fork protection; chromosome organization; centrosome duplication; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; mammary gland development; homologous chromosome orientation involved in meiotic metaphase I plate congression; double-strand break repair via homologous recombination; oocyte maturation; inner cell mass cell proliferation; DNA repair; nucleotide-excision repair; double-strand break repair; DNA recombination; cell cycle; regulation of S phase of mitotic cell cycle; male me | 13q12.3 |
| BRCC3 | G2/M transition DNA damage checkpoint; positive regulation of DNA repair; regulation of catalytic activity; protein K63-linked deubiquitination; histone H2A K63-linked deubiquitination; chromatin modification; response to ionizing radiation; response to X-ray; double-strand break repair; proteolysis | 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 G2/M transition of mitotic cell cycle; histone H4-K12 acetylation; inner cell mass cell proliferation; protein phosphorylation; chromosome segregation; positive regulation of transcription elongation from RNA polymerase II promoter; positive regulation of DNA binding; histone H3-K14 acetylation; interspecies interaction between organisms | 19p13.1 |
| BRD7 | Wnt receptor signaling pathway; negative regulation of cell proliferation; cell cycle; positive regulation of histone acetylation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; negative regulation of G1/S transition of mitotic cell cycle | 16q12 |
| BRD7P1 | - | 14q11.2 |
| BRD7P2 | - | 3q25.33 |
| BRD7P3 | - | 6q22.31 |
| BRD7P4 | - | 6q21 |
| BRD7P5 | - | 13q32.1 |
| BRD8 | regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; chromatin modification; cell surface receptor signaling pathway; regulation of growth; histone H2A acetylation; histone H4 acetylation; signal transduction | 5q31 |
| BRD9 | - | 5p15.33 |
| BRDT | chromatin remodeling; regulation of transcription, DNA-dependent | 1p22.1 |
| BRDTP1 | - | Xq21.33 |
| BRE | positive regulation of DNA repair; positive regulation of anti-apoptosis; G2/M transition DNA damage checkpoint; chromatin modification; response to ionizing radiation; signal transduction; response to DNA damage stimulus; apoptotic process; double-strand break repair | 2p23.2 |
| BRE-AS1 | - | 2p23 |
| BRF1 | transcription initiation, DNA-dependent; regulation of transcription, DNA-dependent; transcription from RNA polymerase III promoter; transcription initiation from RNA polymerase III promoter; positive regulation of transcription, DNA-dependent; rRNA transcription; tRNA transcription; gene expression | 14q |
| BRF2 | regulation of transcription, DNA-dependent; transcription from RNA polymerase III promoter; gene expression; transcription initiation, DNA-dependent | 8p11.23 |
| BRI3 | - | 7q21.3 |
| BRI3BP | - | 12q24.31 |
| BRICD5 | - | 16p13.3 |
| BRINP1 | cell death; cell cycle arrest; negative regulation of cell cycle | 9q32-q33 |
| BRINP2 | nervous system development; negative regulation of cell cycle | 1q24 |
| BRINP3 | negative regulation of cell cycle; nervous system development | 1q31.1 |
| BRIP1 | double-strand break repair; nucleobase-containing compound metabolic process; DNA damage checkpoint; regulation of transcription from RNA polymerase II promoter | 17q22.2 |
| BRIX1 | ribosome biogenesis | 5p13.2 |
| BRK1 | - | 3p25.3 |
| BRK1P2 | - | - |
| BRMS1 | positive regulation of protein deacetylation; positive regulation of anoikis; negative regulation of transcription, DNA-dependent; negative regulation of NF-kappaB transcription factor activity; apoptotic process; negative regulation of anti-apoptosis | 11q13-q13.2 |
| BRMS1L | regulation of growth; regulation of transcription, DNA-dependent | 14q13.2 |
| BROX | - | 1q41 |
| BRPF1 | positive regulation of transcription, DNA-dependent; histone H3 acetylation; chromatin modification | 3p26-p25 |
| BRPF3 | blood coagulation; histone H3 acetylation; platelet activation; chromatin modification; platelet degranulation | 6p21 |
| BRS3 | glucose metabolic process; regulation of blood pressure; adult feeding behavior; bombesin receptor signaling pathway | Xq26.3 |
| BRSK1 | nervous system development; axonogenesis; response to DNA damage stimulus; response to UV; response to ionizing radiation; establishment of cell polarity; neuron differentiation; neurotransmitter secretion; cell cycle; G2/M transition DNA damage checkpoint; centrosome duplication; protein phosphorylation | 19q13.4 |
| BRSK2 | neuron differentiation; establishment of cell polarity; axonogenesis; nervous system development; protein phosphorylation | 11p15.5 |
| BRWD1 | regulation of transcription from RNA polymerase II promoter; cytoskeleton organization; 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 | response to cAMP; pyruvate metabolic process; cell surface receptor signaling pathway; leukocyte migration; decidualization; response to mercury ion; small molecule metabolic process; response to peptide hormone stimulus; odontogenesis of dentin-containing tooth; lactate transmembrane transport; blood coagulation; embryo implantation | 19p13.3 |
| BSN | synaptic transmission | 3p21.31 |
| BSND | chloride transport | 1p32.1 |
| BSPRY | calcium ion transport; ion transport | 9q32 |
| BST1 | humoral immune response; multicellular organismal development | 4p15 |
| BST2 | cell proliferation; defense response to virus; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; B cell activation; humoral immune response; signal transduction; cell-cell signaling; multicellular organismal development | 19p13.1 |
| BSX | locomotory behavior; mammary gland involution; positive regulation of transcription from RNA polymerase II promoter; eating behavior | 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 | negative regulation of apoptotic process; positive regulation of cell proliferation; positive regulation of cell division | 4q13.3 |
| BTD | epidermis development; central nervous system development; nitrogen compound metabolic process | 3p25 |
| BTF3 | in utero embryonic development; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 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; positive regulation of myoblast differentiation; regulation of apoptotic process; regulation of transcription, DNA-dependent; negative regulation of cell proliferation; cell migration; negative regulation of cell growth; positive regulation of endothelial cell differentiation | 12q22 |
| BTG1P1 | - | 12p13.31 |
| BTG2 | negative regulation of cell proliferation; response to DNA damage stimulus; protein methylation; neuron projection development; negative regulation of apoptotic process; response to peptide hormone stimulus; positive regulation of anti-apoptosis; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening; negative regulation of neural precursor cell proliferation; response to electrical stimulus; regulation of transcription, DNA-dependent; DNA repair; neuron differentiation; central nervous system neuron development; associative learning; response to mechanical stimulus; anterior/posterior pattern specification; response to organic nitrogen; response to organic cyclic compound; dentate gyrus development | 1q32 |
| BTG3 | negative regulation of cell proliferation; negative regulation of mitotic cell cycle | 21q21.1 |
| BTG4 | cell cycle arrest; negative regulation of mitotic cell cycle; neuron differentiation; negative regulation of cell proliferation | 11q23 |
| BTK | innate immune response; B cell activation; intracellular signal transduction; calcium-mediated signaling; peptidyl-tyrosine phosphorylation; induction of apoptosis by extracellular signals; positive regulation of NF-kappaB transcription factor activity; B cell receptor signaling pathway; cell maturation; positive regulation of B cell differentiation; regulation of B cell cytokine production; adaptive immune response; mesoderm development; I-kappaB kinase/NF-kappaB cascade; apoptotic process; protein phosphorylation; regulation of transcription, DNA-dependent; regulation of B cell apoptosis | Xq21.33-q22 |
| BTLA | T cell costimulation | 3q13.2 |
| BTN1A1 | negative regulation of cellular metabolic process; negative regulation of activated T cell proliferation; negative regulation of cytokine secretion | 6p22.1 |
| BTN2A1 | lipid metabolic process | 6p22.1 |
| BTN2A2 | negative regulation of cytokine secretion; negative regulation of activated T cell proliferation; negative regulation of cellular metabolic process | 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 | mammary gland epithelial cell proliferation; protein destabilization; regulation of I-kappaB kinase/NF-kappaB cascade; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of circadian rhythm; negative regulation of sequence-specific DNA binding transcription factor activity; cellular response to organic cyclic compound; interspecies interaction between organisms; positive regulation of proteolysis; negative regulation of smoothened signaling pathway; regulation of proteasomal protein catabolic process; branching involved in mammary gland duct morphogenesis; regulation of cell cycle; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein ubiquitination; mitotic cell cycle; protein dephosphorylation; ubiquitin-dependent prot | 10q24.32 |
| BUB1 | regulation of chromosome segregation; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; protein phosphorylation; apoptotic process; regulation of sister chromatid cohesion; mitotic cell cycle checkpoint; mitotic cell cycle spindle assembly checkpoint; cell proliferation; embryo development; interspecies interaction between organisms; cell division; spindle assembly checkpoint | 2q14 |
| BUB1B | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell proliferation; mitotic metaphase/anaphase transition; mitotic cell cycle spindle assembly checkpoint; mitotic cell cycle checkpoint; M phase of mitotic cell cycle; protein localization to kinetochore; phosphatidylinositol-mediated signaling; 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; spindle organization; cell cycle; apoptotic process; protein phosphorylation; mitotic cell cycle; mitotic prometaphase; mitosis; cell cycle checkpoint | 15q15 |
| BUB3 | mitotic cell cycle spindle assembly checkpoint; M phase of mitotic cell cycle; mitotic sister chromatid segregation; cell cycle checkpoint; mitotic prometaphase; mitotic cell cycle; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; meiosis; attachment of spindle microtubules to kinetochore; spindle assembly checkpoint; regulation of chromosome segregation; 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 | 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 Rac GTPase activity; substrate adhesion-dependent cell spreading; positive regulation of locomotion; vesicle-mediated transport; epithelial cell-cell adhesion; regulation of Cdc42 GTPase activity; multicellular organismal development; muscle organ development; cell adhesion; regulation of cell shape; positive regulation of receptor recycling | 6q21 |
| BVES-AS1 | - | 6q21 |
| BYSL | ribosome biogenesis; female pregnancy; cell adhesion | 6p21.1 |
| BZRAP1 | - | 17q22-q23 |
| BZRAP1-AS1 | - | - |
| BZW1 | RNA metabolic process; regulation of transcription, DNA-dependent | 2q33 |
| BZW1P1 | - | 3q26.31 |
| BZW2 | multicellular organismal development; nervous system development; RNA metabolic process; cell differentiation | 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 | protein homooligomerization; protein hexamerization; cell death; DNA replication; transcription from mitochondrial promoter; DNA unwinding involved in replication; mitochondrial 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; protein stabilization; response to DNA damage stimulus; response to UV; response to ionizing radiation; negative regulation of cell growth | 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 | lung development; multicellular organismal development; Golgi organization | 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 | positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction | 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 | maturation of 5.8S rRNA; negative regulation of transcription, DNA-dependent; apoptotic process | 2p13-p12 |
| C1DP1 | - | 10p11.22 |
| C1DP2 | - | 10q22.3 |
| C1DP3 | - | 10q22.3 |
| C1GALT1 | kidney development; post-translational protein modification; cell differentiation; cellular protein metabolic process; O-glycan processing; angiogenesis; multicellular organismal development | 7p21.3 |
| C1GALT1C1 | post-translational protein modification; cellular protein metabolic process; O-glycan processing | 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 | response to glucocorticoid stimulus; innate immune response; response to organic substance; aging; complement activation; complement activation, classical pathway; brain development | 1p36.12 |
| C1QBP | blood coagulation; immune response; blood coagulation, intrinsic pathway; interspecies interaction between organisms | 17p13.3 |
| C1QBPP | - | 21q21.1 |
| C1QC | immune response; complement activation; complement activation, classical pathway; negative regulation of granulocyte differentiation; innate immune response; negative regulation of macrophage differentiation | 1p36.11 |
| C1QL1 | locomotory behavior | 17q21 |
| C1QL3 | - | 10p13 |
| C1QL4 | - | 12q13.12 |
| C1QTNF1 | protein homooligomerization | 17q25.3 |
| C1QTNF1-AS1 | - | - |
| C1QTNF2 | positive regulation of glycogen biosynthetic process; positive regulation of fatty acid oxidation; positive regulation of glucose import; protein homooligomerization; activation of MAPK activity | 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 | immune response; proteolysis; complement activation; complement activation, classical pathway; innate immune response | 12p13 |
| C1RL | complement activation, classical pathway; proteolysis; innate immune response | 12p13.31 |
| C1RL-AS1 | - | 12p13.31 |
| C1S | proteolysis; complement activation; response to cAMP; complement activation, classical pathway; glial cell differentiation; innate immune response | 12p13 |
| C2 | complement activation; proteolysis; complement activation, classical pathway; innate immune response | 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 | regulation of cell shape; cytoskeleton organization | 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 | G1 to G0 transition; cyclin catabolic process; 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 | response to stimulus; visual perception | 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 | complement activation; 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; positive regulation of type IIa hypersensitivity; positive regulation of activation of membrane attack complex; inflammatory response; immune response; complement activation, alternative pathway | 19p13.3-p13.2 |
| C3AR1 | chemotaxis; complement receptor mediated signaling pathway; positive regulation of neutrophil chemotaxis; 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; tolerance induction to nonself antigen | 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 | complement activation, classical pathway; innate immune response | 1q32 |
| C4BPAP1 | - | 1q32.2 |
| C4BPB | complement activation, classical pathway; blood coagulation; innate immune response | 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 | negative regulation of dopamine secretion; activation of MAPK activity; in utero embryonic development; leukocyte migration involved in inflammatory response; cellular calcium ion homeostasis; induction of apoptosis; chemotaxis; response to stress; inflammatory response; complement activation; complement activation, alternative pathway; complement activation, classical pathway; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; positive regulation vascular endothelial growth factor production; negative regulation of norepinephrine secretion; negative regulation of macrophage chemotaxis; positive regulation of chemokine secretion; positive regulation of chemotaxis; positive regulation of angiogenesis; innate immune response; glucose homeostasis; cytolysis | 9q33-q34 |
| C5AR1 | response to peptidoglycan; activation of MAPK activity; chemotaxis; 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; 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 | cilium morphogenesis; cell projection organization; protein transport | 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 | 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; positive regulation of angiogenesis | 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, alternative pathway; complement activation, classical pathway; cytolysis; complement activation; innate immune response | 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 | complement activation, classical pathway; innate immune response; cytolysis; complement activation, alternative pathway; complement activation; immune response | 1p32 |
| C8B | immune response; complement activation; complement activation, alternative pathway; complement activation, classical pathway; cytolysis; innate immune response | 1p32.2 |
| C8G | cytolysis; complement activation, alternative pathway; complement activation, classical pathway; innate immune response | 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 | hemolysis by symbiont of host erythrocytes; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; complement activation, alternative pathway; complement activation, classical pathway; blood coagulation; cytolysis; innate immune response | 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 | morphogenesis of an epithelium; response to stress; one-carbon metabolic process; carbon dioxide transport; response to pH; response to organic substance; response to zinc ion; secretion; positive regulation of bone resorption; positive regulation of osteoclast differentiation; response to estrogen stimulus; odontogenesis of dentin-containing tooth; positive regulation of cellular pH reduction; kidney development | 8q22 |
| CA3 | response to oxidative stress; one-carbon metabolic process | 8q21.2 |
| CA4 | organ development; response to steroid hormone stimulus; 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; one-carbon metabolic process; morphogenesis of an epithelium | 9p13.3 |
| CAAP1 | apoptotic process | 9p21.2 |
| CAB39 | protein heterooligomerization; regulation of fatty acid oxidation; insulin receptor signaling pathway; cell cycle arrest; positive regulation of protein phosphorylation | 2q37.1 |
| CAB39L | insulin receptor signaling pathway; cell cycle arrest; regulation of fatty acid oxidation | 13q14.2 |
| CABIN1 | negative regulation of cell death; chromatin modification; cell surface receptor signaling pathway | 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 | visual perception; signal transduction; phototransduction; 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 | ciliary or flagellar motility; signal transduction; sperm capacitation | 18q11.2 |
| CACFD1 | synaptic vesicle endocytosis | 9q34 |
| CACHD1 | ion transport; calcium ion transport | 1p31.3 |
| CACNA1A | adult walking behavior; ion transport; synapse assembly; neuromuscular synaptic transmission; synaptic transmission; gamma-aminobutyric acid signaling pathway; elevation of cytosolic calcium ion concentration; spinal cord motor neuron differentiation; cell death; cellular chloride ion homeostasis; negative regulation of hormone biosynthetic process; vestibular nucleus development; cerebellar Purkinje cell differentiation; cerebellar Purkinje cell layer development; cerebellar molecular layer development; cerebellum maturation; gamma-aminobutyric acid secretion; regulation of acetylcholine secretion; cell growth; regulation of calcium ion-dependent exocytosis; regulation of axonogenesis; synaptic transmission, glutamatergic; neurotransmitter metabolic process; 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; energy reserve m | 19p13 |
| CACNA1B | ion transport; transport; calcium ion transport; synaptic transmission; membrane depolarization; regulation of calcium ion transport via voltage-gated calcium channel activity; transmembrane transport | 9q34 |
| CACNA1C | energy reserve metabolic process; calcium ion transport into cytosol; transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of insulin secretion; small molecule metabolic process; axon guidance; elevation of cytosolic calcium ion concentration; ion transport | 12p13.3 |
| CACNA1C-AS1 | - | - |
| CACNA1C-IT3 | - | - |
| CACNA1D | small molecule metabolic process; axon guidance; transmembrane transport; regulation of insulin secretion; regulation of calcium ion transport via voltage-gated calcium channel activity; calcium ion transport; ion transport; energy reserve metabolic process | 3p14.3 |
| CACNA1E | behavioral response to pain; small molecule metabolic process; sperm motility; glucose homeostasis; regulation of somatostatin secretion; regulation of insulin secretion; membrane depolarization; regulation of calcium ion transport via voltage-gated calcium channel activity; transmembrane transport; regulation of insulin secretion involved in cellular response to glucose stimulus; sensory perception of pain; visual learning; locomotory behavior; synaptic transmission; ion transport; transport; energy reserve metabolic process; regulation of heart rate; behavioral fear response | 1q25.3 |
| CACNA1F | cellular calcium ion homeostasis; axon guidance; ion transport; regulation of calcium ion transport via voltage-gated calcium channel activity; transmembrane transport; retina development in camera-type eye; dendrite morphogenesis; detection of light stimulus involved in visual perception; response to stimulus; visual perception | Xp11.23 |
| CACNA1G | regulation of heart rate; transport; ion transport; calcium ion transport; synaptic transmission; axon guidance; response to nickel cation; transmembrane transport; regulation of atrial cardiomyocyte membrane depolarization | 17q22 |
| CACNA1G-AS1 | - | 17q21.33 |
| CACNA1H | cellular response to hormone stimulus; regulation of heart contraction; aldosterone biosynthetic process; myoblast fusion; muscle organ development; axon guidance; muscle contraction; ion transport; transport; positive regulation of acrosome reaction; transmembrane transport; cortisol biosynthetic process; cellular response to potassium ion | 16p13.3 |
| CACNA1I | regulation of calcium ion transport via voltage-gated calcium channel activity; transmembrane transport; axon guidance; signal transduction; calcium ion transport; ion transport; transport | 22q13.1 |
| CACNA1S | striated muscle contraction; transmembrane transport; muscle cell development; regulation of calcium ion transport via voltage-gated calcium channel activity; skeletal muscle adaptation; neuromuscular junction development; myoblast fusion; axon guidance; endoplasmic reticulum organization; extraocular skeletal muscle development; muscle contraction; skeletal system development; calcium ion transport; ion transport | 1q32 |
| CACNA2D1 | calcium ion transport; regulation of calcium ion transport via voltage-gated calcium channel activity; ion transport | 7q21-q22 |
| CACNA2D2 | energy reserve metabolic process; neuromuscular junction development; ion transport; rhythmic synaptic transmission; muscle fiber development; regulation of insulin secretion; regulation of multicellular organism growth; small molecule metabolic process; positive regulation of organ growth | 3p21.3 |
| CACNA2D3 | ion transport | 3p21.1 |
| CACNA2D3-AS1 | - | - |
| CACNA2D4 | ion transport | 12p13.33 |
| CACNB1 | protein targeting to membrane; transport; ion transport; axon guidance; regulation of calcium ion transport via voltage-gated calcium channel activity | 17q21-q22 |
| CACNB2 | ion transport; calcium ion transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; visual perception; neuromuscular junction development; axon guidance; synaptic transmission; calcium ion transport; transport | 10p12 |
| CACNB3 | synaptic transmission; regulation of calcium ion transport via voltage-gated calcium channel activity; membrane depolarization; axon guidance; transport; ion transport; calcium ion transport | 12q13 |
| CACNB4 | axon guidance; regulation of calcium ion transport via voltage-gated calcium channel activity; membrane depolarization; synaptic transmission; transport; ion transport | 2q22-q23 |
| CACNG1 | transport; ion transport; muscle contraction; regulation of calcium ion transport via voltage-gated calcium channel activity | 17q24 |
| CACNG2 | synaptic transmission; 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; neuromuscular junction development; membrane depolarization; ion transport; transport | 22q13.1 |
| CACNG4 | ion transport; transport; synaptic transmission; membrane depolarization; 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 | 17q24 |
| CACNG5 | regulation of calcium ion transport via voltage-gated calcium channel activity; transport; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; ion transmembrane transport | 17q24 |
| CACNG6 | regulation of calcium ion transport via voltage-gated calcium channel activity; calcium ion transport; ion transport | 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 | calcium ion transport; synaptic transmission; 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 |
| CACTIN | - | 19p13.3 |
| CACUL1 | - | 10q26.11 |
| CACYBP | aging; positive regulation of DNA replication; cellular response to calcium ion; negative regulation of cell death; response to growth hormone stimulus; cardiac muscle cell differentiation; heart development | 1q24-q25 |
| CACYBPP2 | - | 2q32.1 |
| CAD | response to amine stimulus; drug metabolic process; peptidyl-threonine phosphorylation; response to caffeine; 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; embryo development; female pregnancy; 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 | 2p22-p21 |
| CADM1 | positive regulation of natural killer cell mediated cytotoxicity; positive regulation of cytokine secretion; activated T cell proliferation; detection of stimulus; cell-cell junction organization; susceptibility to natural killer cell mediated cytotoxicity; adherens junction organization; cell differentiation; T cell mediated cytotoxicity; apoptotic process; cell adhesion; homophilic cell adhesion; heterophilic cell-cell adhesion; multicellular organismal development; spermatogenesis; cell recognition; cell junction assembly | 11q23.2 |
| CADM2 | cell junction assembly; adherens junction organization; cell-cell junction organization | 3p12.1 |
| CADM3 | homophilic cell adhesion; cell-cell junction organization; cell adhesion; cell junction assembly; adherens junction organization; heterophilic cell-cell adhesion | 1q21.2-q22 |
| CADM3-AS1 | - | 1q23.2 |
| CADM4 | cell adhesion | 19q13.31 |
| CADPS | positive regulation of calcium ion-dependent exocytosis; synaptic vesicle priming; exocytosis; protein transport; vesicle organization; catecholamine secretion | 3p14.2 |
| CADPS2 | protein transport; synaptic vesicle priming; positive regulation of exocytosis | 7q31.3 |
| CAGE1 | - | 6p24.3 |
| CALB1 | metanephric connecting tubule development; metanephric distal convoluted tubule development; metanephric collecting duct development; retina development in camera-type eye; regulation of synaptic plasticity; metanephric ureteric bud development; retina layer formation; locomotory behavior; learning or memory | 8q21.3 |
| CALB2 | - | 16q22.2 |
| CALCA | endothelial cell migration; positive regulation of interleukin-8 production; positive regulation of macrophage differentiation; negative regulation of osteoclast differentiation; positive regulation of interleukin-1 alpha production; activation of protein kinase activity; negative regulation of neurological system process; receptor internalization; positive regulation of cAMP biosynthetic process; negative regulation of ossification; positive regulation of adenylate cyclase activity; negative regulation of blood pressure; positive regulation of ossification; negative regulation of bone resorption; positive regulation of cell adhesion; negative regulation of transcription, DNA-dependent; positive regulation of vasodilation; negative regulation of smooth muscle contraction; response to pain; regulation of inflammatory response; detection of temperature stimulus involved in sensory perception of pain; cytosolic calcium ion homeostasis; elevation of cytosolic calcium ion concentration involved in G-protein signal | 11p15.2 |
| CALCB | cellular calcium ion homeostasis; signal transduction; vasodilation | 11p15.2-p15.1 |
| CALCOCO1 | transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; intracellular steroid hormone receptor signaling pathway; Wnt receptor signaling pathway; signal transduction | 12q13.13 |
| CALCOCO2 | response to interferon-gamma; viral reproduction | 17q21.32 |
| CALCP | - | 11p15.1 |
| CALCR | protein localization in plasma membrane; response to glucocorticoid stimulus; positive regulation of adenylate cyclase activity; receptor internalization; positive regulation of cAMP biosynthetic process; protein transport; elevation of cytosolic calcium ion concentration; activation of phospholipase C activity; activation of adenylate cyclase activity; activation of adenylate cyclase activity by G-protein signaling pathway | 7q21.3 |
| CALCRL | cAMP biosynthetic process; cellular response to sucrose stimulus; negative regulation of inflammatory response; positive regulation of smooth muscle cell proliferation; positive regulation of cAMP biosynthetic process; angiogenesis; calcium ion transport; regulation of muscle contraction; G-protein signaling, coupled to cyclic nucleotide second messenger; activation of adenylate cyclase activity by G-protein signaling pathway; heart development; protein transport; 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 | activation of phospholipase C activity; negative regulation of ryanodine-sensitive calcium-release channel activity; response to calcium ion; regulation of nitric-oxide synthase activity; nerve growth factor receptor signaling pathway; nitric oxide metabolic process; small molecule metabolic process; regulation of cytokinesis; platelet activation; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; fibroblast growth factor receptor signaling pathway; blood coagulation; synaptic transmission; G-protein coupled receptor signaling pathway; epidermal growth factor receptor signaling pathway; signal transduction; muscle contraction; glucose metabolic process; glycogen catabolic process; carbohydrate metabolic process; platelet degranulation; positive regulation of ryanodine-sensitive calcium-release channel activity | 19q13.2-q13.3 |
| CALML3 | - | 10p15.1 |
| CALML3-AS1 | - | 10p15.1 |
| CALML4 | - | 15q23 |
| CALML5 | signal transduction; epidermis development | 10p15.1 |
| CALML6 | - | 1p36.33 |
| CALN1 | - | 7q11 |
| CALR | antigen processing and presentation of exogenous peptide antigen via MHC class I; glucocorticoid receptor signaling pathway; cellular protein metabolic process; regulation of apoptotic process; post-translational protein modification; negative regulation of intracellular steroid hormone receptor signaling pathway; response to drug; regulation of meiosis; cellular senescence; protein localization to nucleus; response to testosterone stimulus; cardiac muscle cell differentiation; negative regulation of neuron differentiation; positive regulation of DNA replication; positive regulation of cell cycle; negative regulation of transcription, DNA-dependent; negative regulation of retinoic acid receptor signaling pathway; positive regulation of phagocytosis; protein stabilization; sequestering of calcium ion; protein maturation by protein folding; cellular response to organic substance; cellular response to lithium ion; endoplasmic reticulum unfolded protein response; response to estradiol stimulus; negative regulatio | 19p13.3-p13.2 |
| CALR3 | cell differentiation; spermatogenesis; protein folding | 19p13.11 |
| CALU | platelet degranulation; blood coagulation; platelet activation | 7q32.1 |
| CALY | clathrin coat assembly; positive regulation of endocytosis; dopamine receptor signaling pathway | 10q26.3 |
| CAMK1 | nucleocytoplasmic transport; cell cycle; signal transduction; protein phosphorylation; multicellular organismal development; nervous system development; positive regulation of neuron projection development; cell differentiation; regulation of protein localization; regulation of protein binding; positive regulation of protein export from nucleus; regulation of muscle cell differentiation; positive regulation of muscle cell differentiation; positive regulation of synapse structural plasticity; positive regulation of dendritic spine development; positive regulation of protein serine/threonine kinase activity | 3p25.3 |
| CAMK1D | positive regulation of respiratory burst; inflammatory response; nervous system development; positive regulation of neuron projection development; positive regulation of CREB transcription factor activity; regulation of apoptotic process; positive regulation of phagocytosis; regulation of dendrite development; regulation of granulocyte chemotaxis; positive regulation of neutrophil chemotaxis | 10p13 |
| CAMK1G | - | 1q32.2 |
| CAMK2A | positive regulation of NF-kappaB transcription factor activity; cytokine-mediated signaling pathway; synaptic transmission; protein phosphorylation; interferon-gamma-mediated signaling pathway | 5q32 |
| CAMK2B | response to cadmium ion; protein autophosphorylation; regulation of long-term neuronal synaptic plasticity; cell differentiation; regulation of synaptic transmission, cholinergic; induction of apoptosis in response to chemical stimulus; positive regulation of neuron projection development; neuromuscular process controlling balance; regulation of synapse structural plasticity; regulation of calcium ion transport; interferon-gamma-mediated signaling pathway; activation of meiosis involved in egg activation; regulation of dendritic spine development; positive regulation of dendritic spine morphogenesis; positive regulation of synapse maturation; peptidyl-serine phosphorylation; cytokine-mediated signaling pathway; G1/S transition of mitotic cell cycle; inhibitory G-protein coupled receptor phosphorylation; protein phosphorylation; signal transduction; synaptic transmission; multicellular organismal development; nervous system development; regulation of skeletal muscle adaptation | 7p14.3-p14.1 |
| CAMK2D | regulation of cellular localization; interferon-gamma-mediated signaling pathway; regulation of ryanodine-sensitive calcium-release channel activity; cardiac muscle contraction; protein autophosphorylation; cytokine-mediated signaling pathway; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; calcium ion transport; positive regulation of cardiac muscle hypertrophy; regulation of heart contraction; synaptic transmission; protein phosphorylation; regulation of cell growth; G1/S transition of mitotic cell cycle | 4q26 |
| CAMK2G | interferon-gamma-mediated signaling pathway; regulation of calcium ion transport; cell differentiation; insulin secretion; protein phosphorylation; synaptic transmission; multicellular organismal development; nervous system development; regulation of skeletal muscle adaptation; cytokine-mediated signaling pathway | 10q22 |
| CAMK2N1 | negative regulation of phosphorylation; negative regulation of catalytic activity | 1p36.12 |
| CAMK2N2 | - | 3q27.1 |
| CAMK4 | myeloid dendritic cell cytokine production; nerve growth factor receptor signaling pathway; positive regulation of transcription, DNA-dependent; regulation of osteoclast differentiation; myeloid dendritic cell differentiation; regulation of T cell differentiation in thymus; fibroblast growth factor receptor signaling pathway; long-term memory; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; signal transduction; inflammatory response; protein phosphorylation; synaptic transmission | 5q21.3 |
| CAMKK1 | synaptic transmission | 17p13.2 |
| CAMKK2 | MAPK cascade; calcium-mediated signaling; regulation of protein kinase activity; positive regulation of transcription, DNA-dependent; protein autophosphorylation; protein phosphorylation | 12q24.2 |
| CAMKMT | - | 2p21 |
| CAMKV | - | 3p21.31 |
| CAMLG | receptor recycling; defense response; signal transduction; epidermal growth factor receptor signaling pathway | 5q23 |
| CAMP | negative regulation of growth of symbiont on or near host surface; killing by host of symbiont cells; defense response to Gram-positive bacterium; defense response to Gram-negative bacterium; negative regulation of growth of symbiont in host; defense response to bacterium | 3p21.3 |
| CAMSAP1 | cytoskeleton organization; regulation of cell morphogenesis | 9q34.3 |
| CAMSAP2 | - | 1q32.1 |
| CAMSAP3 | negative regulation of phosphatase activity; epithelial cell-cell adhesion; regulation of microtubule cytoskeleton organization; zonula adherens maintenance; microtubule anchoring | 19p13.2 |
| CAMTA1 | regulation of transcription, DNA-dependent | 1p36.31-p36.23 |
| CAMTA1-IT1 | - | - |
| CAMTA2 | cardiac muscle hypertrophy in response to stress; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 17p13.2 |
| CAND1 | negative regulation of catalytic activity; regulation of transcription, DNA-dependent; protein ubiquitination; cell differentiation | 12q14 |
| CAND1.11 | - | 11p15.4 |
| CAND2 | positive regulation of transcription, DNA-dependent | 3p25.2 |
| CANT1 | positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction | 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 | platelet degranulation; platelet activation; actin cytoskeleton organization; blood coagulation; axon guidance; activation of adenylate cyclase activity; signal transduction; establishment or maintenance of cell polarity; cytoskeleton organization; receptor-mediated endocytosis; ameboidal cell migration; cell morphogenesis | 1p34.2 |
| CAP1P1 | - | 3p12.3 |
| CAP1P2 | - | 10q11.21 |
| CAP2 | cell morphogenesis; axon guidance; activation of adenylate cyclase activity; signal transduction; establishment or maintenance of cell polarity; cytoskeleton organization | 6p22.3 |
| CAP2P1 | - | 14q31.3 |
| CAPG | barbed-end actin filament capping; protein complex assembly; cell projection assembly | 2p11.2 |
| CAPN1 | proteolysis; positive regulation of cell proliferation | 11q13 |
| CAPN10 | positive regulation of insulin secretion; proteolysis; positive regulation of intracellular transport; cellular response to insulin stimulus; positive regulation of apoptotic process; positive regulation of glucose import; actin cytoskeleton reorganization | 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 | regulation of I-kappaB kinase/NF-kappaB cascade; myofibril assembly; negative regulation of protein sumoylation; response to calcium ion; response to drug; negative regulation of apoptotic process; cellular response to calcium ion; sarcomere organization; positive regulation of proteolysis; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; muscle cell homeostasis; regulation of catalytic activity; positive regulation of NF-kappaB transcription factor activity; positive regulation of release of sequestered calcium ion into cytosol; muscle structure development; response to muscle activity; autolysis; protein complex assembly; proteolysis; apoptotic process; signal transduction; muscle organ development; positive regulation of satellite cell activation involved in skeletal muscle regeneration; protein localization in membrane; cellular response to salt stress | 15q15.1 |
| CAPN5 | ovarian follicle development; luteinization; proteolysis; granulosa cell differentiation; signal transduction | 11q14 |
| CAPN6 | microtubule bundle formation; proteolysis; regulation of cytoskeleton organization | Xq23 |
| CAPN7 | proteolysis | 3p24 |
| CAPN8 | proteolysis | 1q41 |
| CAPN9 | digestion; proteolysis | 1q42.11-q42.3 |
| CAPNS1 | proteolysis; metabolic process; positive regulation of cell proliferation | 19q13.12 |
| CAPNS1P1 | - | 1p22.2 |
| CAPNS2 | - | 16q12.2 |
| CAPRIN1 | positive regulation of dendrite morphogenesis; positive regulation of dendritic spine morphogenesis; cell differentiation; negative regulation of translation | 11p13 |
| CAPRIN2 | negative regulation of translation; 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; regulation of growth; positive regulation of peptidyl-serine phosphorylation; positive regulation of protein binding; negative regulation of cell growth; cell differentiation | 12p11 |
| CAPS | intracellular signal transduction | 19p13.3 |
| CAPS2 | - | 12q14.1 |
| CAPSL | - | 5p13.2 |
| CAPZA1 | actin cytoskeleton organization; innate immune response; actin filament capping; protein complex assembly; cellular component movement; blood coagulation | 1p13.2 |
| CAPZA1P | - | Xq21.3 |
| CAPZA2 | protein complex assembly; cellular component movement; blood coagulation; actin cytoskeleton organization; innate immune response; actin filament capping | 7q31.2-q31.3 |
| CAPZB | blood coagulation; cellular component movement; cytoskeleton organization; 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 I-kappaB kinase/NF-kappaB cascade; positive regulation of cytokine production; signal transduction; positive regulation of B cell proliferation; T cell costimulation; positive regulation of T cell proliferation; regulation of apoptotic process; thymic T cell selection; positive regulation of interleukin-2 biosynthetic process; regulation of B cell differentiation; regulation of T cell differentiation; regulation of immune response; T cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity | 7p22 |
| CARD14 | activation of NF-kappaB-inducing kinase activity; positive regulation of protein phosphorylation; regulation of apoptotic process | 17q25 |
| CARD16 | regulation of apoptotic process | - |
| CARD17 | proteolysis; regulation of apoptotic process | 11q22.3 |
| CARD18 | regulation of apoptotic process; inflammatory response | 11q22.3 |
| CARD19 | negative regulation of I-kappaB kinase/NF-kappaB cascade | 9q22.31 |
| CARD6 | regulation of apoptotic process | 5p13.1 |
| CARD8 | 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; activation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of apoptotic process | 19q13.33 |
| CARD8-AS1 | - | - |
| CARD9 | nucleotide-binding oligomerization domain containing signaling pathway; response to muramyl dipeptide; positive regulation of interleukin-6 production; defense response to virus; positive regulation of innate immune response; regulation of interleukin-6 biosynthetic process; positive regulation of JNK cascade; positive regulation of tumor necrosis factor production; regulation of interleukin-2 biosynthetic process; response to fungus; positive regulation of stress-activated MAPK cascade; defense response to Gram-positive bacterium; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; response to drug; regulation of tumor necrosis factor biosynthetic process; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; response to exogenous dsRNA; innate immune response | 9q34.3 |
| CARF | - | 2q33.2 |
| CARHSP1 | regulation of mRNA stability; regulation of transcription, DNA-dependent; intracellular signal transduction | 16p13.2 |
| CARKD | - | 13q34 |
| CARM1 | regulation of intracellular estrogen receptor signaling pathway; regulation of growth plate cartilage chondrocyte proliferation; histone H3-R2 methylation; pathogenesis; positive regulation of cell proliferation; histone H3-R17 methylation; regulation of transcription, DNA-dependent; endochondral bone morphogenesis; response to cAMP; positive regulation of fat cell differentiation; interspecies interaction between organisms; small molecule metabolic process; cellular lipid metabolic process; peptidyl-arginine N-methylation; histone methylation; peptidyl-arginine methylation, to asymmetrical-dimethyl arginine; intracellular steroid hormone receptor signaling pathway; negative regulation of protein binding; chromatin modification | 19p13.2 |
| CARM1P1 | - | 9p24.2 |
| CARMN | - | 5q32 |
| CARNMT1 | - | 9q21.13 |
| CARNS1 | carnosine biosynthetic process | 11q13.2 |
| CARS | tRNA aminoacylation for protein translation; cysteinyl-tRNA aminoacylation; gene expression | 11p15.5 |
| CARS2 | tRNA aminoacylation for protein translation; cysteinyl-tRNA aminoacylation; gene expression | 13q34 |
| CARTPT | negative regulation of appetite; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; cell-cell signaling; signal transduction; cellular glucose homeostasis; activation of MAPKK activity; synaptic transmission; somatostatin secretion; adult feeding behavior; negative regulation of glucagon secretion; positive regulation of transmission of nerve impulse; regulation of insulin secretion; regulation of bone remodeling; negative regulation of bone resorption; positive regulation of blood pressure; negative regulation of osteoclast differentiation; circadian regulation of gene expression; positive regulation of epinephrine secretion; cellular response to starvation | 5q13.2 |
| CASC1 | - | 12p12.1 |
| CASC10 | - | 10p12.31 |
| CASC15 | - | 6p22.3 |
| CASC18 | - | - |
| CASC2 | - | 10q26.11 |
| CASC20 | - | - |
| CASC21 | - | 8q24.21 |
| CASC3 | response to stress; transport; intracellular mRNA localization; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; mRNA processing; RNA splicing; gene expression; RNA metabolic process; mRNA metabolic process; mRNA transport; regulation of translation | 17q21.1 |
| CASC4 | - | 15q15.3 |
| CASC4P1 | - | - |
| CASC5 | nucleosome assembly; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; acrosome assembly; chromosome segregation; attachment of spindle microtubules to kinetochore; negative regulation of phosphatase activity; CenH3-containing nucleosome assembly at centromere; cell division; spindle assembly checkpoint | 15q14 |
| CASC7 | - | 8q24.3 |
| CASC9 | - | 8q21.11 |
| CASD1 | - | 7q21.3 |
| CASK | negative regulation of cell-matrix adhesion; cell adhesion; negative regulation of keratinocyte proliferation; negative regulation of wound healing; negative regulation of cellular response to growth factor stimulus | Xp11.4 |
| CASKIN1 | signal transduction | 16p13.3 |
| CASKIN2 | - | 17q25.1 |
| CASP1 | activation of cysteine-type endopeptidase activity involved in apoptotic process; proteolysis; cellular response to organic substance; cellular response to mechanical stimulus; 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; signal transduction; apoptotic process | 11q23 |
| CASP10 | innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; induction of apoptosis by extracellular signals; induction of apoptosis; apoptotic process; proteolysis | 2q33-q34 |
| CASP12 | regulation of apoptotic process; proteolysis | 11q22.3 |
| CASP14 | apoptotic process; proteolysis; induction of apoptosis; epidermis development; cell differentiation | 19p13.1 |
| CASP16 | proteolysis | 16p13.3 |
| CASP1P1 | - | - |
| CASP1P2 | - | 11q22.3 |
| CASP2 | luteolysis; execution phase of apoptosis; apoptotic signaling pathway; 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; metabolic process; aging; brain development; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; proteolysis; neural retina development | 7q34-q35 |
| CASP3 | induction of apoptosis by extracellular signals; 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; sensory perception of sound; nerve growth factor receptor signaling pathway; negative regulation of activated T cell proliferation; negative regulation of cyclin-dependent protein kinase activity; cell fate commitment; positive regulation of neuron apoptosis; negative regulation of apoptotic process; T cell homeostasis; regulation of apoptotic process; heart development; negative regulation of phosphorylation; response to tumor necrosis factor; negative regulation of B cell proliferation; nuclear fragmentation involved in apoptotic nuclear change; keratinocyte differentiation; protein processing; response to wounding; response to UV; activation of cysteine-type endopeptidase activity involved in apoptoti | 4q34 |
| CASP3P1 | - | 1p31.1 |
| CASP4 | proteolysis; induction of apoptosis; apoptotic process; regulation of apoptotic process | 11q22.2-q22.3 |
| CASP5 | proteolysis; apoptotic process; regulation of apoptotic process; cellular response to mechanical stimulus | 11q22.2-q22.3 |
| CASP6 | positive regulation of retinal cell programmed cell death; lens development in camera-type eye; acute inflammatory response to non-antigenic stimulus; proteolysis; apoptotic process; induction of apoptosis; cellular component disassembly involved in apoptosis; response to heat; response to glucose stimulus; response to iron ion; response to organic nitrogen; response to gamma radiation; response to estradiol stimulus; response to testosterone stimulus; response to cytokine stimulus; response to hydrogen peroxide; positive regulation of neuron apoptosis | 4q25 |
| CASP7 | positive regulation of neuron apoptosis; release of cytochrome c from mitochondria; 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; induction of apoptosis; apoptotic process; proteolysis | 10q25 |
| CASP8 | macrophage differentiation; response to estradiol stimulus; response to cold; activation of pro-apoptotic gene products; induction of apoptosis by intracellular signals; induction of apoptosis by extracellular signals; metabolic process; heart development; response to cobalt ion; cellular component disassembly involved in apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; proteolysis; neural tube formation; angiogenesis; response to lipopolysaccharide; response to tumor necrosis factor; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; response to ethanol; response to antibiotic; protein heterooligomerization; proteolysis involved in cellular protein catabolic process; nucleotide-binding oligomerization domain containing signaling pathway; cellular response to mechanical stimulus; extrinsic apoptotic | 2q33-q34 |
| CASP8AP2 | induction of apoptosis via death domain receptors; regulation of transcription, DNA-dependent; activation of cysteine-type endopeptidase activity involved in apoptotic process; cell cycle; signal transduction; induction of apoptosis by extracellular signals; cellular response to mechanical stimulus | 6q15 |
| CASP9 | phosphatidylinositol-mediated signaling; proteolysis; apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; response to DNA damage stimulus; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; induction of apoptosis by intracellular signals; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; response to UV; regulation of apoptotic process; positive regulation of neuron apoptosis; cellular response to dexamethasone stimulus; nerve growth factor receptor signaling pathway | 1p36.21 |
| CASQ1 | skeletal muscle tissue development; endoplasmic reticulum organization; response to heat; response to organic substance; regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion; response to denervation involved in regulation of muscle adaptation; regulation of sequestering of calcium ion | 1q21 |
| CASQ2 | striated muscle contraction; heart development | 1p13.1 |
| CASR | calcium ion import; ossification; detection of calcium ion; cellular calcium ion homeostasis; G-protein coupled receptor signaling pathway; chemosensory behavior; anatomical structure morphogenesis; calcium-mediated signaling | 3q13 |
| CASS4 | cell adhesion | 20q13.31 |
| CAST | negative regulation of endopeptidase activity | 5q15 |
| CASZ1 | regulation of transcription, DNA-dependent | 1p36.22 |
| CAT | response to vitamin E; cellular response to growth factor stimulus; response to hyperoxia; positive regulation of cell division; response to reactive oxygen species; response to hypoxia; purine base metabolic process; purine nucleotide catabolic process; triglyceride metabolic process; aging; cholesterol metabolic process; aerobic respiration; UV protection; positive regulation of phosphatidylinositol 3-kinase cascade; hemoglobin metabolic process; negative regulation of NF-kappaB transcription factor activity; menopause; small molecule metabolic process; negative regulation of apoptotic process; hydrogen peroxide catabolic process; positive regulation of NF-kappaB transcription factor activity; protein tetramerization; nucleobase-containing small molecule metabolic process | 11p13 |
| CATIP | - | 2q35 |
| CATIP-AS1 | - | 2q35 |
| CATSPER1 | ciliary or flagellar motility; cell differentiation; sperm motility; ion transport; fusion of sperm to egg plasma membrane; spermatogenesis; transmembrane transport; multicellular organismal development | 11q12.1 |
| CATSPER2 | cell differentiation; ion transport; multicellular organismal development; transmembrane transport; spermatogenesis | 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 | cell differentiation; spermatogenesis; multicellular organismal development | 19q13.1 |
| CATX-1 | - | - |
| CAV1 | calcium ion homeostasis; cholesterol efflux; nitric oxide homeostasis; response to calcium ion; membrane depolarization; regulation of peptidase activity; negative regulation of cell proliferation; mammary gland involution; caveola assembly; cellular response to hyperoxia; caveolin-mediated endocytosis; negative regulation of canonical Wnt receptor signaling pathway; positive regulation of canonical Wnt receptor signaling pathway; receptor internalization involved in canonical Wnt receptor signaling pathway; positive regulation of extrinsic apoptotic signaling pathway; positive regulation of intrinsic apoptotic signaling pathway; small molecule metabolic process; regulation of nitric-oxide synthase activity; interspecies interaction between organisms; negative regulation of nitric oxide biosynthetic process; positive regulation of anti-apoptosis; positive regulation of endocytosis; positive regulation of vasoconstriction; nitric oxide metabolic process; negative regulation of JAK-STAT cascade; positive regula | 7q31.1 |
| CAV2 | mitochondrion organization; caveola assembly; positive regulation of dopamine receptor signaling pathway; protein oligomerization; skeletal muscle fiber development; vesicle docking; vesicle fusion; negative regulation of endothelial cell proliferation; vesicle organization; negative regulation of cell proliferation; synaptic transmission; regulation of mitosis; endoplasmic reticulum organization | 7q31.1 |
| CAV3 | endocytosis; negative regulation of protein kinase activity; triglyceride metabolic process; regulation of ventricular cardiomyocyte membrane repolarization; negative regulation of sarcomere organization; regulation of cardiac muscle contraction; regulation of calcium ion transport via voltage-gated calcium channel activity; negative regulation of nitric-oxide synthase activity; regulation of skeletal muscle contraction; muscle cell homeostasis; elevation of cytosolic calcium ion concentration; muscle organ development; regulation of heart contraction; protein localization; negative regulation of cardiac muscle hypertrophy; cell growth; cell differentiation; positive regulation of microtubule polymerization; membrane raft organization; 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 | 3p25 |
| CBARP | - | 19p13.3 |
| CBFA2T2 | negative regulation of neuron projection development; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; epithelial cell differentiation; positive regulation of neuron projection development | 20q11 |
| CBFA2T3 | cell proliferation; cell differentiation; granulocyte differentiation; positive regulation of transcription from RNA polymerase II promoter | 16q24 |
| CBFB | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 16q22.1 |
| CBL | regulation of transcription, DNA-dependent; cell surface receptor signaling pathway; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase cascade; protein ubiquitination; regulation of signaling; negative regulation of epidermal growth factor receptor signaling pathway; negative regulation of apoptotic process; positive regulation of receptor-mediated endocytosis | 11q23.3 |
| CBLB | positive regulation of protein catabolic process; negative regulation of T cell receptor signaling pathway; T cell activation; intracellular signal transduction; regulation of signaling; 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; negative regulation of alpha-beta T cell proliferation | 3q13.11 |
| CBLC | regulation of signaling; negative regulation of epidermal growth factor-activated receptor activity; cell surface receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; negative regulation of MAP kinase activity; protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 19q13.2 |
| CBLL1 | cell-cell adhesion; negative regulation of cell adhesion; protein ubiquitination; positive regulation of cell migration; positive regulation of endocytosis | 7q22.3 |
| CBLN1 | synaptic transmission; nervous system development | 16q12.1 |
| CBLN2 | - | 18q22.3 |
| CBLN3 | - | 14q12 |
| CBR1 | drug metabolic process; vitamin K metabolic process; oxidation-reduction process | 21q22.13 |
| CBR3 | phylloquinone catabolic process | 21q22.2 |
| CBR3-AS1 | - | - |
| CBR4 | fatty acid biosynthetic process; protein homotetramerization; antibiotic metabolic process | 4q32.3 |
| CBS | regulation of cGMP metabolic process; cartilage development involved in endochondral bone morphogenesis; response to nutrient levels; cellular nitrogen compound metabolic process; homocysteine catabolic process; regulation of JUN kinase activity; small molecule metabolic process; homocysteine metabolic process; regulation of blood vessel size; response to folic acid; maternal process involved in female pregnancy; hydrogen sulfide biosynthetic 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 | cell differentiation; chromatin modification; negative regulation of transcription from RNA polymerase II promoter; development of primary sexual characteristics; negative regulation of transcription, DNA-dependent | 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; negative regulation of transcription from RNA polymerase II promoter; anti-apoptosis; chromatin modification | 17q25.3 |
| CBX5 | blood coagulation; negative regulation of transcription, DNA-dependent; 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 | chromatin modification; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 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; negative regulation of Wnt receptor signaling pathway; protein localization | 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 | cell projection organization; smoothened signaling pathway; cilium assembly; cilium morphogenesis | 4p15.32 |
| CC2D2B | - | 10q24.1 |
| CCAR1 | gene expression; RNA splicing; cell cycle; apoptotic process; regulation of transcription, DNA-dependent; nuclear mRNA splicing, via spliceosome | 10q21.3 |
| CCAR2 | positive regulation of apoptotic process; apoptotic process; negative regulation of catalytic activity | 8p22 |
| CCAT1 | - | - |
| CCBE1 | lymphangiogenesis; multicellular organismal development; venous blood vessel morphogenesis; sprouting angiogenesis | 18q21.32 |
| CCBL1 | kynurenine metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; biosynthetic process; cellular amino acid biosynthetic process; cellular modified amino acid metabolic process; L-phenylalanine catabolic process; tryptophan catabolic process | 9q34.11 |
| CCBL2 | cellular amino acid metabolic process; kynurenine metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; biosynthetic process; tryptophan catabolic 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 | axonemal dynein complex assembly; epithelial cilium movement involved in determination of left/right asymmetry; flagellar cell motility; ciliary cell motility | 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 | nervous system development; transport; neuron projection 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 | cell differentiation; negative regulation of cell growth; negative regulation of transcription, DNA-dependent; negative regulation of fat cell differentiation; regulation of growth | 11q12.1 |
| CCDC85C | cerebral cortex development | 14q32.31 |
| CCDC86 | interspecies interaction between organisms | 11q12.2 |
| CCDC87 | - | 11q13.2 |
| CCDC88A | regulation of neuron projection development; microtubule cytoskeleton organization; regulation of protein phosphorylation; regulation of cell proliferation; regulation of DNA replication; nervous system development; cellular membrane organization; cell migration; lamellipodium assembly; activation of protein kinase B activity; regulation of actin cytoskeleton organization; TOR signaling cascade | 2p16.1 |
| CCDC88B | microtubule cytoskeleton organization | 11q12.3 |
| CCDC88C | protein homooligomerization; microtubule cytoskeleton organization; regulation of protein phosphorylation; Wnt receptor signaling pathway; protein destabilization | 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 | cell differentiation; multicellular organismal development | 6p21.3 |
| CCIN | cell differentiation; spermatogenesis; multicellular organismal development | 9p13.3 |
| CCK | activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; regulation of sensory perception of pain; positive regulation of mitochondrial depolarization; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of apoptotic process; eating behavior; positive regulation of protein oligomerization; negative regulation of appetite; positive regulation of cell proliferation; axonogenesis; signal transduction; activation of cysteine-type endopeptidase activity involved in apoptotic process; release of cytochrome c from mitochondria; neuron migration; behavioral fear response | 3p22.1 |
| CCKAR | positive regulation of somatostatin secretion; positive regulation of calcium ion transport via voltage-gated calcium channel activity; response to glucocorticoid stimulus; response to steroid hormone stimulus; regulation of hormone secretion; regulation of potassium ion transport; response to nutrient; cellular response to hormone stimulus; response to starvation; 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; digestion; feeding behavior; response to heat; insulin secretion; pancreatic juice secretion; forebrain development; pancreas development; organ regeneration; actin cytoskeleton reorganization; response to lipopolysaccharide; response to radiation | 4p15.1-p15.2 |
| CCKBR | cell proliferation; positive regulation of cell proliferation; 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; positive regulation of somatostatin secretion; sensory perception; digestion; elevation of cytosolic calcium ion concentration; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; cell surface receptor signaling pathway; apoptotic process; behavioral defense response; histamine secretion; feeding behavior | 11p15.4 |
| CCL1 | cellular calcium ion homeostasis; chemotaxis; immune response; viral reproduction; signal transduction | 17q12 |
| CCL11 | response to interleukin-4; mammary duct terminal end bud growth; branching involved in mammary gland duct morphogenesis; ERK1 and ERK2 cascade; mast cell chemotaxis; eosinophil chemotaxis; positive regulation of angiogenesis; positive regulation of Rac GTPase activity; positive regulation of actin filament polymerization; positive regulation of cell migration; response to virus; response to radiation; regulation of cell shape; signal transduction; cell adhesion; actin filament organization; cytoskeleton organization; immune response; inflammatory response; chemotaxis; cellular calcium ion homeostasis; protein phosphorylation; positive regulation of endothelial cell proliferation; chronic inflammatory response | 17q12 |
| CCL13 | cellular calcium ion homeostasis; regulation of cell shape; cell-cell signaling; signal transduction; chemotaxis; eosinophil chemotaxis; cytoskeleton organization; immune response; inflammatory response | 17q11.2 |
| CCL14 | positive regulation of cell proliferation; immune response; cellular calcium ion homeostasis | 17q11.2 |
| CCL15 | immune response; chemotaxis; cellular calcium ion homeostasis; signal transduction; positive chemotaxis; cell-cell signaling | 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 | inflammatory response; response to biotic stimulus; cell-cell signaling; signal transduction; chemotaxis; cell communication; immune response | 17q11.2 |
| CCL19 | positive regulation of cell motility; negative regulation of leukocyte apoptosis; positive regulation of neutrophil chemotaxis; positive regulation of JNK cascade; positive regulation of Cdc42 GTPase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; response to nitric oxide; positive regulation of ERK1 and ERK2 cascade; regulation of cell projection assembly; positive regulation of protein kinase B signaling cascade; release of sequestered calcium ion into cytosol; positive regulation of chemotaxis; positive regulation of interleukin-1 beta secretion; cell maturation; positive regulation of receptor-mediated endocytosis; interleukin-12 secretion; positive regulation of protein kinase activity; positive regulation of endocytosis; positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of T-helper 1 cell differentiation; cellular calcium ion homeostasis; positive regulation of dendritic cell antigen processing and presentation; myeloid dendritic cell chemotaxis; dend | 9p13 |
| CCL2 | neutrophil chemotaxis; cellular homeostasis; cytokine-mediated signaling pathway; viral genome replication; endoplasmic reticulum unfolded protein response; negative regulation of angiogenesis; vascular endothelial growth factor receptor signaling pathway; response to antibiotic; organ regeneration; response to ethanol; cellular response to fibroblast growth factor stimulus; lipopolysaccharide-mediated signaling pathway; astrocyte cell migration; positive regulation of macrophage chemotaxis; protein kinase B signaling cascade; apoptotic cell clearance; response to amino acid stimulus; response to drug; maternal process involved in parturition; helper T cell extravasation; response to vitamin B3; response to progesterone stimulus; activation of signaling protein activity involved in unfolded protein response; aging; JAK-STAT cascade; G-protein signaling, coupled to cyclic nucleotide second messenger; negative regulation of natural killer cell chemotaxis; G-protein coupled receptor signaling pathway; transformi | 17q11.2-q12 |
| CCL20 | cell-cell signaling; defense response to bacterium; chemokinesis; signal transduction; immune response; inflammatory response; chemotaxis | 2q36.3 |
| CCL22 | inflammatory response; signal transduction; cell-cell signaling; response to virus; chemotaxis; immune response | 16q13 |
| CCL23 | cell-cell signaling; G-protein coupled receptor signaling pathway; inflammatory response; negative regulation of cell proliferation; negative regulation of C-C chemokine binding; immune response; signal transduction; monocyte chemotaxis; cellular calcium ion homeostasis; chemotaxis | 17q12 |
| CCL24 | cytoskeleton organization; positive regulation of cell migration; positive regulation of inflammatory response; positive regulation of angiogenesis; positive regulation of Rac GTPase activity; positive regulation of actin filament polymerization; signal transduction; positive regulation of endothelial cell proliferation; immune response; chemotaxis; inflammatory response; eosinophil chemotaxis; cell-cell signaling; regulation of cell shape | 7q11.23 |
| CCL25 | chemotaxis; leukocyte migration; G-protein coupled receptor signaling pathway; cell surface receptor signaling pathway; immune response; inflammatory response | 19p13.2 |
| CCL26 | positive regulation of actin filament polymerization; positive regulation of Rac GTPase activity; positive regulation of cell migration; cell-cell signaling; signal transduction; immune response; inflammatory response; chemotaxis; positive regulation of endothelial cell proliferation | 7q11.23 |
| CCL28 | chemotaxis; immune response; elevation of cytosolic calcium ion concentration | 5p12 |
| CCL3 | signaling; neutrophil chemotaxis; positive regulation of cell migration; negative regulation of bone mineralization; calcium ion transport; response to toxin; cellular calcium ion homeostasis; exocytosis; chemotaxis; inflammatory response; protein phosphorylation; immune response; cytoskeleton organization; cell-cell signaling; behavior; regulation of cell shape; calcium-mediated signaling; monocyte chemotaxis; cell activation; osteoblast differentiation; MAPK cascade; positive regulation of gene expression; negative regulation of gene expression; T cell chemotaxis; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; phosphorylation; positive regulation of interleukin-1 beta secretion; cellular response to interferon-gamma; cellular response to interleukin-1; cellular response to tumor necrosis factor; cellular response to organic cyclic compound; response to cholesterol; positive regulation of ERK1 and ERK2 cascade; regulation of sensory perception of pain; positive regulation of calci | 17q12 |
| CCL3L1 | - | 17q21.1 |
| CCL4L1 | inflammatory response; chemotaxis; immune response | 17q12 |
| CCL5 | neutrophil activation; positive regulation of phosphorylation; negative regulation of viral genome replication; positive regulation of viral genome replication; cellular response to fibroblast growth factor stimulus; positive regulation of gene expression; positive regulation of activation of JAK2 kinase activity; response to salt stress; negative regulation by host of viral transcription; response to bacterium; response to toxin; regulation of T cell activation; positive regulation of T cell proliferation; positive regulation of homotypic cell-cell adhesion; positive regulation of cell-cell adhesion mediated by integrin; dibenzo-p-dioxin metabolic process; positive regulation of smooth muscle cell migration; positive regulation of macrophage chemotaxis; positive regulation of T cell chemotaxis; positive regulation of phosphatidylinositol 3-kinase cascade; response to activity; positive regulation of cell adhesion; neuroprotection; cellular protein complex assembly; positive regulation of tyrosine phosphoryla | 17q12 |
| CCL8 | signal transduction; immune response; protein phosphorylation; response to virus; cell-cell signaling; calcium ion transport; cellular calcium ion homeostasis; inflammatory response; chemotaxis; exocytosis | 17q11.2 |
| CCM2 | multicellular organismal development; integrin-mediated signaling pathway; vasculogenesis; stress-activated MAPK cascade; endothelial tube morphogenesis | 7p13 |
| CCM2L | - | 20q11.2 |
| CCNA1 | male meiosis I; spermatogenesis; cell division; 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; G2/M transition of mitotic cell cycle; mitotic cell cycle; mitosis | 13q12.3-q13 |
| CCNA2 | mitotic cell cycle G2/M transition DNA damage checkpoint; cell division; positive regulation of transcription, DNA-dependent; Ras protein signal transduction; mitosis; mitotic cell cycle; G2/M transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity | 4q27 |
| CCNB1 | 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 processing; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; negative regulation of gene expression; response to mechanical stimulus; spermatogenesis; mitotic metaphase plate congression; protein complex assembly; 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; cell cycle checkpoint; response to toxin; positive regulation of cardiac muscle cell proliferation; regulation of chromosome condensation; ventricular cardiac muscle cell development; mitotic cell cycle spindle checkpoint; cellular | 5q12 |
| CCNB1IP1 | organ growth; blastocyst formation; apoptotic process; meiotic metaphase I; spermatid development; chiasma assembly | 14q11.2 |
| CCNB1IP1P2 | - | - |
| CCNB2 | growth; T cell homeostasis; thymus development; regulation of G2/M transition of mitotic cell cycle; cell division; mitosis; 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; cell cycle; meiosis; regulation of cyclin-dependent protein kinase activity; regulation of G2/M transition of mitotic cell cycle | Xp11 |
| CCNC | gene expression; regulation of transcription, DNA-dependent; regulation of cyclin-dependent protein kinase activity | 6q21 |
| CCND1 | mitotic cell cycle G1/S transition DNA damage checkpoint; positive regulation of cyclin-dependent protein kinase activity; response to vitamin E; Leydig cell differentiation; positive regulation of mammary gland epithelial cell proliferation; regulation of phosphorylation; response to drug; response to estrogen stimulus; fat cell differentiation; response to ethanol; regulation of catalytic activity; cell division; response to corticosterone stimulus; response to calcium ion; canonical Wnt receptor signaling pathway; mammary gland alveolus development; response to UV-A; cellular response to organic substance; organ regeneration; re-entry into mitotic cell cycle; liver development; positive regulation of protein phosphorylation; mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; response to DNA damage stimulus; lactation; positive regulation of cell proliferation; endoplasmic reticulum unfolded protein response; negative regulation of epith | 11q13 |
| CCND2 | response to estradiol stimulus; response to cAMP; cell division; positive regulation of epithelial cell proliferation; positive regulation of cyclin-dependent protein kinase activity; regulation of neuron differentiation; ovarian follicle development; liver development; positive regulation of protein phosphorylation; spermatogenesis; response to ethanol; response to peptide hormone stimulus; response to testosterone stimulus; cellular response to insulin stimulus; response to organic cyclic compound | 12p13 |
| CCND2-AS1 | - | 12p13.32 |
| CCND3 | positive regulation of protein phosphorylation; positive regulation of cyclin-dependent protein kinase activity; T cell proliferation; signal transduction; cell division | 6p21 |
| CCNDBP1 | cell cycle | 15q14-q15 |
| CCNE1 | 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; response to progesterone stimulus; response to vitamin E; response to cytokine stimulus; regulation of phosphorylation; response to drug; response to ethanol; positive regulation of cell differentiation; positive regulation of transcription, DNA-dependent; DNA-dependent DNA replication initiation; regulation of catalytic activity; liver development; cell division; response to corticosterone stimulus; response to methylmercury; antral ovarian follicle growth; 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; response to estradiol stimulus | 19q12 |
| CCNE2 | mitotic cell cycle; cell cycle checkpoint; regulation of cyclin-dependent protein kinase activity; G1/S transition of mitotic cell cycle; cell division | 8q22.1 |
| CCNF | re-entry into mitotic cell cycle; placenta development; cell cycle; mitosis; negative regulation of centrosome duplication; protein ubiquitination; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; cell division | 16p13.3 |
| CCNG1 | regulation of cyclin-dependent protein kinase activity; brain development; response to organic nitrogen; mitotic cell cycle G2/M transition DNA damage checkpoint; mitosis; cell growth; negative regulation of apoptotic process; cell division; cell cycle; syncytium formation | 5q32-q34 |
| CCNG2 | mitosis; cell cycle checkpoint; cell division; regulation of cell cycle | 4q21.1 |
| CCNH | positive regulation of viral transcription; protein phosphorylation; mRNA capping; gene expression; viral reproduction; positive regulation of transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; nucleotide-excision repair, DNA damage removal; DNA repair; transcription-coupled nucleotide-excision repair; transcription elongation from RNA polymerase II promoter; mitotic cell cycle; G2/M transition of mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; nucleotide-excision repair; regulation of 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; 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 cycle; mitosis; transcription from RNA polymerase II promoter; regulation of cyclin-dependent protein kinase activity; cell division; regulation of transcription, DNA-dependent | 14q32 |
| CCNL1 | regulation of transcription, DNA-dependent; RNA processing; regulation of cyclin-dependent protein kinase activity | 3q25.31 |
| CCNL2 | regulation of cyclin-dependent protein kinase activity; regulation of transcription, DNA-dependent; RNA processing | 1p36.33 |
| CCNO | regulation of cyclin-dependent protein kinase activity; cell division; depyrimidination; cell cycle; base-excision repair, AP site formation; base-excision repair; DNA repair | 5q11.2 |
| CCNT1 | cell division; 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; interspecies interaction between organisms; positive regulation of viral transcription | 12q13.11 |
| CCNT2 | cell division; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; regulation of transcription, DNA-dependent; regulation of cyclin-dependent protein kinase activity; cell cycle; gene expression; viral reproduction; interspecies interaction between organisms | 2q21.3 |
| CCNT2-AS1 | - | 2q21.3 |
| CCNT2P1 | - | - |
| CCNY | G2/M transition of mitotic cell cycle; regulation of canonical Wnt receptor signaling pathway; positive regulation of cyclin-dependent protein kinase activity; Wnt receptor signaling pathway; cell cycle; cell division | 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; centrosome duplication; regulation of cytokinesis | 16p12.3 |
| CCPG1 | cell cycle | 15q21.1 |
| CCR1 | cell-cell signaling; positive regulation of calcium ion transport; response to wounding; chemokine-mediated signaling pathway; positive regulation of ERK1 and ERK2 cascade; positive regulation of osteoclast differentiation; dendritic cell chemotaxis; calcium ion transport; cellular calcium ion homeostasis; exocytosis; chemotaxis; inflammatory response; negative regulation of bone mineralization; cytokine-mediated signaling pathway; negative regulation of gene expression; immune response; cell adhesion; cell surface receptor signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; elevation of cytosolic calcium ion concentration | 3p21 |
| CCR10 | chemotaxis; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway | 17q21.1-q21.3 |
| CCR2 | cellular defense response; immune response; inflammatory response; chemotaxis; cellular calcium ion homeostasis; negative regulation of type 2 immune response; positive regulation of T-helper 1 type immune response; dendritic cell chemotaxis; blood vessel remodeling; regulation of vascular endothelial growth factor production; T-helper 17 cell chemotaxis; positive regulation of T cell extravasation; positive regulation of immune complex clearance by monocytes and macrophages; positive regulation of monocyte chemotaxis; chemokine-mediated signaling pathway; positive regulation of T cell activation; positive regulation of inflammatory response; positive regulation of alpha-beta T cell proliferation; innate immune response; interspecies interaction between organisms; astrocyte cell migration; negative regulation of eosinophil degranulation; positive regulation of tumor necrosis factor biosynthetic process; negative regulation of adenylate cyclase activity; monocyte extravasation; positive regulation of interleuk | 3p21.31 |
| CCR3 | eosinophil chemotaxis; cellular defense response; inflammatory response; cell adhesion; chemotaxis; mast cell chemotaxis; positive regulation of endothelial cell proliferation; G-protein signaling, coupled to cAMP nucleotide second messenger; elevation of cytosolic calcium ion concentration; interspecies interaction between organisms; positive regulation of angiogenesis; ERK1 and ERK2 cascade | 3p21.3 |
| CCR4 | inflammatory response; chemotaxis; elevation of cytosolic calcium ion concentration; immune response; tolerance induction; neuron migration | 3p24 |
| CCR5 | signaling; calcium ion transport; calcium-mediated signaling; entry into host cell; interspecies interaction between organisms; response to cholesterol; cellular response to lipopolysaccharide; elevation of cytosolic calcium ion concentration; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; initiation of viral infection; chemotaxis; inflammatory response; immune response; cellular defense response; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; viral reproduction; cell-cell signaling; MAPK cascade; dendritic cell chemotaxis | 3p21.31 |
| CCR6 | elevation of cytosolic calcium ion concentration; dendritic cell chemotaxis; cellular component movement; chemotaxis; immune response; humoral immune response; cellular defense response; signal transduction; innate immune response | 6q27 |
| CCR7 | positive regulation of interleukin-12 production; positive regulation of JNK cascade; cell maturation; positive regulation of cell adhesion; positive regulation of protein kinase activity; dendritic cell chemotaxis; positive regulation of glycoprotein biosynthetic process; positive regulation of actin filament polymerization; positive regulation of pseudopodium assembly; G-protein coupled receptor signaling pathway; immune response; inflammatory response; chemotaxis; positive regulation of humoral immune response; positive regulation of hypersensitivity; positive regulation of dendritic cell antigen processing and presentation; myeloid dendritic cell chemotaxis; regulation of interleukin-1 beta secretion; T cell costimulation; ruffle organization; positive regulation of cell-matrix adhesion; response to lipopolysaccharide; immunological synapse formation; negative thymic T cell selection; positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; r | 17q12-q21.2 |
| CCR8 | chemotaxis; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway; cell adhesion; immune response | 3p22 |
| CCR9 | elevation of cytosolic calcium ion concentration; cellular defense response; G-protein coupled receptor signaling pathway; chemotaxis; immune response | 3p21.3 |
| CCRL1P1 | - | 6q24.1 |
| CCRL2 | - | 3p21 |
| CCS | intracellular copper ion transport; superoxide metabolic process; removal of superoxide radicals; metal ion transport; copper ion transmembrane transport; oxidation-reduction process | 11q13 |
| CCSAP | - | 1q42.13 |
| CCSER1 | - | 4q22.1 |
| CCSER2 | - | 10q23.1 |
| CCT2 | protein folding; chaperone-mediated protein complex assembly; 'de novo' posttranslational protein folding; cellular protein metabolic process | 12q15 |
| CCT3 | 'de novo' posttranslational protein folding; cellular protein metabolic process; protein folding | 1q23 |
| CCT4 | 'de novo' posttranslational protein folding; cellular protein metabolic process; 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 | 'de novo' posttranslational protein folding; protein folding; cellular protein metabolic process | 7p11.2 |
| CCT6B | spermatogenesis; protein transport; protein folding; chaperone-mediated protein complex assembly | 17q12 |
| CCT6P1 | - | 7q11.21 |
| CCT6P2 | - | 5p15.2 |
| CCT6P3 | - | 7q11.21 |
| CCT7 | protein folding; cellular protein metabolic process; 'de novo' posttranslational protein folding | 2p13.2 |
| CCT7P1 | - | 6q25.1 |
| CCT7P2 | - | 5q14.3 |
| CCT8 | cellular protein metabolic process; 'de novo' posttranslational protein folding; protein folding | 21q22.11 |
| CCT8P1 | - | 1q21.1 |
| CCZ1 | - | 7p22.1 |
| CCZ1B | - | 7p22.1 |
| CD101 | cell surface receptor signaling pathway | 1p13 |
| CD109 | - | 6q13 |
| CD14 | Toll signaling pathway; phagocytosis; apoptotic process; inflammatory response; cell surface receptor 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 | 5q31.1 |
| CD151 | cell junction assembly; hemidesmosome assembly; cell adhesion | 11p15.5 |
| CD160 | cellular defense response; cell surface receptor signaling pathway; cell proliferation; regulation of immune response | 1q21.1 |
| CD163 | acute-phase response; inflammatory response | 12p13.3 |
| CD163L1 | - | 12p13.3 |
| CD164 | immune response; cell adhesion; heterophilic cell-cell adhesion; negative regulation of cell adhesion; signal transduction; multicellular organismal development; muscle organ development; negative regulation of cell proliferation; hemopoiesis | 6q21 |
| CD164L2 | - | 1p36.11 |
| CD177 | blood coagulation; leukocyte migration | 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 | immune response; antigen processing and presentation | 1q22-q23 |
| CD1C | antigen processing and presentation; immune response; T cell activation involved in immune response | 1q22-q23 |
| CD1D | detection of bacterium; heterotypic cell-cell adhesion; antigen processing and presentation; T cell selection; interspecies interaction between organisms; positive regulation of innate immune response; antigen processing and presentation, endogenous lipid antigen via MHC class Ib; positive regulation of T cell proliferation | 1q22-q23 |
| CD1E | antigen processing and presentation; immune response | 1q22-q23 |
| CD2 | natural killer cell activation; positive regulation of myeloid dendritic cell activation; leukocyte migration; cell-cell adhesion; blood coagulation; regulation of T cell differentiation; T cell activation; membrane raft polarization; induction of apoptosis; cell surface receptor signaling pathway | 1p13.1 |
| CD200 | regulation of immune response | 3q12-q13 |
| CD200R1 | regulation of immune response; interspecies interaction between organisms | 3q13.2 |
| CD200R1L | - | 3q13.2 |
| CD207 | 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; defense response to virus | 2p13 |
| CD209 | cell adhesion; cell-cell recognition; leukocyte cell-cell adhesion; heterophilic cell-cell adhesion; peptide antigen transport; virus-host interaction; endocytosis; intracellular virion transport; innate immune response; interspecies interaction between organisms; intracellular signal transduction; antigen processing and presentation; viral genome replication; virion attachment to host cell surface receptor | 19p13 |
| CD22 | cell adhesion | 19q13.1 |
| CD226 | regulation of immune response; positive regulation of Fc receptor mediated stimulatory signaling pathway; positive regulation of natural killer cell mediated cytotoxicity; cell recognition; signal transduction; cell adhesion; positive regulation of immunoglobulin mediated immune response; positive regulation of mast cell activation; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; cytokine production | 18q22.3 |
| CD24 | cell-cell adhesion; cell migration; regulation of epithelial cell differentiation; 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; Wnt receptor signaling pathway; induction of apoptosis by intracellular signals; axon guidance; regulation of phosphorylation; cholesterol homeostasis; elevation of cytosolic calcium ion concentration; response to hypoxia; cell activation; regulation of cytokine-mediated signaling pathway; response to molecule of bacterial origin; immune response-regulating cell surface receptor signaling pathway; positive regulation of protein tyrosine kinase activity; respiratory burst; response to estrogen stimulus; regulation of MAPK cascade; positive regulation of MAP kinase activity | 6q21 |
| CD244 | signal transduction; blood coagulation; leukocyte migration | 1q23.3 |
| CD247 | viral reproduction; cell surface receptor signaling pathway; T cell costimulation; interspecies interaction between organisms; regulation of defense response to virus by virus; regulation of immune response; T cell receptor signaling pathway | 1q24.2 |
| CD248 | - | 11q13 |
| CD24P2 | - | 15q21.3 |
| CD27 | release of cytoplasmic sequestered NF-kappaB; anti-apoptosis; induction of apoptosis; cell surface receptor signaling pathway; immunoglobulin mediated immune response; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; response to ethanol; positive regulation of B cell differentiation; positive regulation of JNK cascade | 12p13 |
| CD27-AS1 | - | 12p13.31 |
| CD274 | cell proliferation; immune response; signal transduction; cell surface receptor signaling pathway; T cell costimulation; peptidyl-tyrosine dephosphorylation; negative regulation of T cell proliferation | 9p24 |
| CD276 | positive regulation of T cell proliferation; positive regulation of osteoblast differentiation; regulation of immune response; positive regulation of bone mineralization; cell proliferation; T cell activation; immune response; negative regulation of T cell proliferation; negative regulation of interferon-gamma biosynthetic process; positive regulation of interferon-gamma biosynthetic process; negative regulation of interleukin-2 biosynthetic process; negative regulation of inflammatory response | 15q23-q24 |
| CD28 | cytokine biosynthetic process; positive regulation of T cell proliferation; T cell activation; regulatory T cell differentiation; positive regulation of viral genome replication; positive regulation of interleukin-2 biosynthetic process; positive regulation of anti-apoptosis; positive regulation of mitosis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of isotype switching to IgG isotypes; regulation of defense response to virus by virus; positive regulation of alpha-beta T cell proliferation; negative thymic T cell selection; positive regulation of translation; positive regulation of inflammatory response to antigenic stimulus; immune response; T cell costimulation; humoral immune response; cell surface receptor signaling pathway; induction of apoptosis by extracellular signals; viral reproduction | 2q33 |
| CD2AP | substrate-dependent cell migration, cell extension; protein complex assembly; cell cycle; mitosis; signal transduction; cell division | 6p12 |
| CD2BP2 | assembly of spliceosomal tri-snRNP; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; negative regulation of phosphatase activity | 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; signal transduction; cell-cell signaling; negative regulation of cell proliferation | 19q13.3 |
| CD34 | positive regulation of granulocyte colony-stimulating factor production; hemopoietic stem cell proliferation; interleukin-2 secretion; vascular wound healing; negative regulation of nitric oxide biosynthetic process; paracrine signaling; mesangial cell-matrix adhesion; transdifferentiation; cellular response to heat; negative regulation of tumor necrosis factor production; positive regulation of odontogenesis; negative regulation of necrotic cell death; regulation of immune response; hemopoiesis; positive regulation of interleukin-10 production; leukocyte migration; negative regulation of blood coagulation; glomerular endothelium development; positive regulation of transforming growth factor beta production; cell motility; cell-cell adhesion; positive regulation of angiogenesis; stem cell proliferation; extracellular vesicular exosome assembly; cellular response to hypoxia; regulation of blood pressure; tissue homeostasis; endothelial cell proliferation; glomerular filtration; positive regulation of vasculoge | 1q32 |
| CD36 | 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; negative regulation of gene expression; defense response to Gram-positive bacterium; blood coagulation; positive regulation of interleukin-6 production; positive regulation of interleukin-12 production; positive regulation of tumor necrosis factor production; plasma lipoprotein particle clearance; low-density lipoprotein particle clearance; response to stilbenoid; antigen processing and presentation of exogenous peptide antigen via MHC class I; lipoprotein transport; negative regulation of transcription factor import into nucleus; positive regulation of I-kappaB kinase/NF-kappaB cascade; apoptotic cell clearance; positive regulation of MAPK cascade; negative regulation of growth of symbiont in host; cellular lipid metabolic pr | 7q11.2 |
| CD37 | positive regulation of immunoglobulin production; regulation of humoral immune response | 19q13.3 |
| CD38 | metabolic process; positive regulation of vasoconstriction; female pregnancy; induction of apoptosis by extracellular signals; response to hormone stimulus; positive regulation of cell growth; 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; negative regulation of apoptotic process; negative regulation of bone resorption; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; signal transduction; response to hypoxia; B cell receptor signaling pathway; long term synaptic depression; response to interleukin-1; elevation of cytosolic calcium ion concentration | 4p15 |
| CD3D | T cell costimulation; cell surface receptor signaling pathway; T cell differentiation; positive thymic T cell selection; positive regulation of transcription from RNA polymerase II promoter; regulation of immune response; T cell receptor signaling pathway | 11q23 |
| CD3E | positive regulation of interferon-gamma production; T cell costimulation; induction of apoptosis by extracellular signals; positive regulation of alpha-beta T cell proliferation; response to nutrient; positive regulation of interleukin-4 production; T cell differentiation in thymus; positive regulation of T cell proliferation; T cell activation; regulation of apoptotic process; negative thymic T cell selection; positive regulation of interleukin-2 biosynthetic process; G-protein coupled receptor signaling pathway; signal complex assembly; transmembrane receptor protein tyrosine kinase signaling pathway; cell surface receptor signaling pathway; protein complex assembly; positive regulation of T cell anergy; T cell receptor signaling pathway; positive regulation of calcium-mediated signaling; regulation of immune response; positive regulation of peptidyl-tyrosine phosphorylation; negative regulation of smoothened signaling pathway | 11q23 |
| CD3EAP | transmembrane receptor protein tyrosine kinase signaling pathway; rRNA transcription | 19q13.3 |
| CD3G | protein transport; establishment or maintenance of cell polarity; cell surface receptor signaling pathway; T cell costimulation; T cell activation; regulation of apoptotic process; regulation of immune response; T cell receptor signaling pathway; protein complex assembly | 11q23 |
| CD4 | T cell costimulation; T cell selection; maintenance of protein location in cell; interspecies interaction between organisms; positive regulation of interleukin-2 biosynthetic process; innate immune response; protein palmitoleylation; positive regulation of protein kinase activity; regulation of defense response to virus by virus; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of calcium-mediated signaling; T cell receptor signaling pathway; regulation of T cell activation; T cell differentiation; entry into host cell; cytokine production; induction by virus of host cell-cell fusion; immune response; cell adhesion; signal transduction; cell surface receptor signaling pathway; enzyme linked receptor protein signaling pathway; transmembrane receptor protein tyrosine kinase signaling pathway; viral reproduction; initiation of viral infection | 12p13.31 |
| CD40 | positive regulation of MAP kinase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of Cdc42 GTPase activity; positive regulation of tyrosine phosphorylation of Stat1 protein; B cell proliferation; positive regulation of Rac GTPase activity; positive regulation of interleukin-12 production; positive regulation of B cell proliferation; platelet activation; signal transduction; inflammatory response; cellular calcium ion homeostasis; protein complex assembly; immune response-regulating cell surface receptor signaling pathway; positive regulation of protein phosphorylation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of isotype switching to IgG isotypes; regulation of immune response; regulation of immunoglobulin secretion; positive regulation of NF-kappaB transcription factor activity; defense response to virus; cellular response to mechanical stimulus; positive regulation of protein kinase C signaling cascade; positive regulati | 20q12-q13.2 |
| CD40LG | platelet activation; positive regulation of MHC class II biosynthetic process; B cell differentiation; positive regulation of B cell proliferation; positive regulation of interferon-gamma production; positive regulation of interleukin-10 production; positive regulation of interleukin-12 production; B cell proliferation; isotype switching; immune response; inflammatory response; anti-apoptosis; positive regulation of immune response to tumor cell; positive regulation of endothelial cell apoptosis; leukocyte cell-cell adhesion; regulation of immunoglobulin secretion; regulation of immune response | Xq26 |
| CD44 | positive regulation of peptidyl-serine phosphorylation; negative regulation of apoptotic process; positive regulation of heterotypic cell-cell adhesion; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of DNA damage response, signal transduction by p53 class mediator; positive regulation of peptidyl-tyrosine phosphorylation; cartilage development; interferon-gamma-mediated signaling pathway; positive regulation of ERK1 and ERK2 cascade; monocyte aggregation; cytokine-mediated signaling pathway; cell-cell adhesion; cell-matrix adhesion; cell adhesion; hyaluronan catabolic process | 11p13 |
| CD46 | complement activation, classical pathway; single fertilization; interspecies interaction between organisms; innate immune response | 1q32 |
| CD46P1 | - | 1q32 |
| CD47 | integrin-mediated signaling pathway; leukocyte migration; positive regulation of T cell activation; positive regulation of cell-cell adhesion; positive regulation of cell proliferation; blood coagulation; cell adhesion | 3q13.1-q13.2 |
| CD48 | defense response; signal transduction; blood coagulation; T cell activation; mast cell activation; leukocyte migration | 1q21.3-q22 |
| CD5 | cell proliferation; cell recognition; induction of apoptosis by extracellular signals; T cell costimulation | 11q13 |
| CD52 | respiratory burst; elevation of cytosolic calcium ion concentration | 1p36 |
| CD53 | signal transduction | 1p13 |
| CD55 | respiratory burst; complement activation, classical pathway; elevation of cytosolic calcium ion concentration; innate immune response | 1q32 |
| CD58 | leukocyte migration; cell-cell adhesion; blood coagulation; cell adhesion | 1p13 |
| CD59 | cell surface receptor signaling pathway; blood coagulation | 11p13 |
| CD5L | apoptotic process; cellular defense response | 1q21-q23 |
| CD6 | cell adhesion | 11q13 |
| CD63 | platelet activation; blood coagulation; platelet degranulation | 12q12-q13 |
| CD68 | - | 17p13 |
| CD69 | cellular response to drug | 12p13 |
| CD7 | homeostasis of number of cells within a tissue; T cell activation; transmembrane receptor protein tyrosine kinase signaling pathway; immune response | 17q25.2-q25.3 |
| CD70 | signal transduction; cell proliferation; cell-cell signaling; immune response; induction of apoptosis | 19p13 |
| CD72 | cell adhesion; axon guidance | 9p13.3 |
| CD74 | chaperone mediated protein folding requiring cofactor; negative regulation of T cell differentiation; positive regulation of T cell differentiation; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of fibroblast proliferation; cell proliferation; negative thymic T cell selection; positive thymic T cell selection; T cell selection; negative regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of apoptotic process; regulation of macrophage activation; macrophage migration inhibitory factor signaling pathway; positive regulation of B cell proliferation; antigen processing and presentation of exogenous peptide antigen via MHC class II; antigen processing and presentation of endogenous antigen; cytokine-mediated signaling pathway; immunoglobulin mediated immune response; activation of MAPK activity; signal transduction; immune response; defense response; intracellular protein transport; protein complex assembly; negative regulation of mature | 5q32 |
| CD79A | cell surface receptor signaling pathway; B cell differentiation; B cell proliferation; B cell activation; B cell receptor signaling pathway | 19q13.2 |
| CD79B | immune response; cell surface receptor signaling pathway; signal transduction | 17q23 |
| CD80 | intracellular signal transduction; cell-cell signaling; positive regulation of signal transduction; T cell costimulation; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of alpha-beta T cell proliferation; positive regulation of transcription, DNA-dependent; positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process; positive regulation of interleukin-2 biosynthetic process; T cell activation; interspecies interaction between organisms; positive regulation of T-helper 1 cell differentiation | 3q13.3-q21 |
| CD81 | response to wounding; regulation of immune response; activation of MAPK activity; phosphatidylinositol biosynthetic process; protein localization; cell proliferation; positive regulation of cell proliferation; regulation of growth; positive regulation of 1-phosphatidylinositol 4-kinase activity; interspecies interaction between organisms; phosphatidylinositol metabolic process; entry of virus into host cell; virion attachment, binding of host cell surface receptor; positive regulation of peptidyl-tyrosine phosphorylation | 11p15.5 |
| CD81-AS1 | - | 11p15.5 |
| CD82 | - | 11p11.2 |
| CD83 | defense response; positive regulation of CD4-positive, alpha-beta T cell differentiation; humoral immune response; negative regulation of interleukin-4 production; response to organic cyclic compound; positive regulation of interleukin-10 production; positive regulation of interleukin-2 production; signal transduction | 6p23 |
| CD84 | defense response; cell adhesion; homophilic cell adhesion; blood coagulation; leukocyte migration | 1q24 |
| CD86 | positive regulation of transcription, DNA-dependent; defense response to virus; positive regulation of T-helper 2 cell differentiation; positive regulation of interleukin-4 biosynthetic process; toll-like receptor signaling pathway; immune response; cell-cell signaling; 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 | 3q21 |
| CD8A | cytotoxic T cell differentiation; regulation of immune response; positive regulation of calcium-mediated signaling; defense response to virus; T cell mediated immunity; T cell activation; antigen processing and presentation; transmembrane receptor protein tyrosine kinase signaling pathway; cell surface receptor signaling pathway; immune response | 2p12 |
| CD8B | immune response; transmembrane receptor protein tyrosine kinase signaling pathway; viral reproduction; T cell activation; regulation of defense response to virus by virus; regulation of immune response | 2p12 |
| CD8BP | - | 2q12.1 |
| CD9 | paranodal junction assembly; platelet degranulation; cellular component movement; cell adhesion; brain development; blood coagulation; negative regulation of cell proliferation; response to water deprivation; oligodendrocyte development; platelet activation; fusion of sperm to egg plasma membrane | 12p13.3 |
| CD93 | phagocytosis; cell-cell adhesion; macrophage activation; interspecies interaction between organisms | 20p11.21 |
| CD96 | cell adhesion; regulation of immune response; immune response | 3q13.13-q13.2 |
| CD99 | cell adhesion | Xp22.32 and Yp11.3 |
| CD99L2 | cell adhesion | Xq28 |
| CD99P1 | - | Xp22.33;Yp11.31 |
| CDA | response to cycloheximide; pyrimidine nucleoside salvage; negative regulation of cell growth; cytosine metabolic process; cytidine deamination; pyrimidine-containing compound salvage; cell surface receptor signaling pathway; pyrimidine base metabolic process; small molecule metabolic process; negative regulation of nucleotide metabolic process; protein homotetramerization; nucleobase-containing small molecule metabolic process; cellular response to external biotic stimulus | 1p36.2-p35 |
| CDADC1 | - | 13q14.2 |
| CDAN1 | - | 15q15.2 |
| CDC123 | positive regulation of cell proliferation; cell cycle; cell cycle arrest; regulation of mitotic cell cycle; cell division; G1 phase of mitotic cell cycle | 10p13 |
| CDC14A | cell proliferation; cell division; cell cycle | 1p21 |
| CDC14B | DNA repair; protein dephosphorylation; G2/M transition DNA damage checkpoint; peptidyl-tyrosine dephosphorylation; activation of anaphase-promoting complex activity | 9q22.3 |
| CDC14BL | - | 7p12.3 |
| CDC14C | - | 7p12.3 |
| CDC16 | cell division; cell cycle checkpoint; mitotic cell cycle; mitosis; regulation of mitosis; mitotic cell cycle spindle assembly checkpoint; 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; protein K11-linked ubiquitination | 13q34 |
| CDC20 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of dendrite development; cell division; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of synapse maturation; activation of anaphase-promoting complex activity; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of synaptic plasticity; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell differentiation; positive regulation of cell proliferation; nervous system development; mitotic cell cycle spindle assembly checkpoint; cell cycle; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; cell cycle checkpoint | 1p34.1 |
| CDC20B | - | 5q11.2 |
| CDC20P1 | - | 9q21.33 |
| CDC23 | mitotic cell cycle spindle assembly checkpoint; cell cycle checkpoint; 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 division; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; regulation of mitotic metaphase/anaphase transition; protein ubiquitination; regulation of exit from mitosis; mitotic metaphase/anaphase transition; mitotic metaphase plate congression; mitosis; cell cycle; ubiquitin-dependent protein catabolic process; mitotic cell cycle; G1 phase of mitotic cell cycle | 5q31 |
| CDC25A | mitotic cell cycle; G2/M transition of 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; cell division; cellular response to UV; response to radiation; cell proliferation; mitosis; DNA replication | 3p21 |
| CDC25B | mitosis; protein phosphorylation; oocyte maturation; mitotic cell cycle; G2/M transition of mitotic cell cycle; female meiosis I; positive regulation of cell proliferation; peptidyl-tyrosine dephosphorylation; positive regulation of protein kinase activity; positive regulation of mitotic cell cycle; cell division; positive regulation of cell cycle cytokinesis | 20p13 |
| CDC25C | DNA replication; 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; mitotic cell cycle; M phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; cell cycle checkpoint | 5q31 |
| CDC26 | cell cycle checkpoint; mitotic cell cycle; mitosis; mitotic cell cycle spindle assembly checkpoint; 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; 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 | 9q32 |
| CDC27 | mitotic cell cycle; 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; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mitotic cell cycle spindle assembly checkpoint; mitotic metaphase/anaphase transition; cell cycle checkpoint; cell proliferation | 17q21.32 |
| CDC34 | cell cycle; protein K48-linked ubiquitination; negative regulation of cAMP-mediated signaling; proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; protein modification process; DNA-dependent DNA replication initiation; protein polyubiquitination; G1/S transition of mitotic cell cycle | 19p13.3 |
| CDC37 | regulation of type I interferon-mediated signaling pathway; regulation of cyclin-dependent protein kinase activity; regulation of interferon-gamma-mediated signaling pathway; protein targeting | 19p13.2 |
| CDC37L1 | - | 9p24.1 |
| CDC37L1-AS1 | - | 9p24.1 |
| CDC37P1 | - | 16p11.2 |
| CDC40 | mRNA 3'-end processing; cell division; RNA splicing; mRNA export from nucleus; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; gene expression; nuclear mRNA splicing, via spliceosome | 6q21 |
| CDC42 | positive regulation of cell cycle cytokinesis; keratinocyte development; GTP catabolic process; regulation of mitosis; nuclear migration; actin filament bundle assembly; negative regulation of epidermal growth factor receptor signaling pathway; regulation of protein catabolic process; muscle cell differentiation; positive regulation of MAPK cascade; regulation of protein heterodimerization activity; positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of DNA replication; regulation of protein kinase activity; positive regulation of JNK cascade; filopodium assembly; neuron fate determination; epidermal growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; positive regulation of muscle cell differentiation; 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 pl | 1p36.1 |
| CDC42-IT1 | - | - |
| CDC42BPA | protein phosphorylation; intracellular signal transduction; actin cytoskeleton reorganization; actomyosin structure organization; cell migration | 1q42.11 |
| CDC42BPB | actomyosin structure organization; actin cytoskeleton reorganization; protein phosphorylation; cytoskeleton organization; establishment or maintenance of cell polarity; intracellular signal transduction; signal transduction; cell migration | 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 | positive regulation of Rho GTPase activity; positive regulation of protein complex assembly; actin filament organization; regulation of cell shape; positive regulation of pseudopodium assembly; positive regulation of actin filament polymerization; actin cytoskeleton organization | 11q13 |
| CDC42EP3 | regulation of cell shape; signal transduction | 2p21 |
| CDC42EP4 | Rho protein signal transduction; regulation of cell shape; positive regulation of pseudopodium assembly | 17q24-q25 |
| CDC42EP5 | JNK cascade; Rho protein signal transduction; positive regulation of actin filament polymerization; regulation of cell shape; positive regulation of pseudopodium assembly | 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; regulation of cell shape; phagocytosis | 5q31.1 |
| CDC45 | DNA strand elongation involved in DNA replication; G1/S transition of mitotic cell cycle; DNA replication checkpoint; cell cycle checkpoint; 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; mitotic cell cycle; DNA replication; DNA-dependent DNA replication initiation | 22q11.21 |
| CDC5L | regulation of transcription, DNA-dependent; RNA splicing; cell cycle; nuclear mRNA splicing, via spliceosome | 6p21 |
| CDC6 | traversing start control point of mitotic cell cycle; DNA replication; mitosis; 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; negative regulation of DNA replication; negative regulation of cell proliferation; cell division; regulation of mitotic anaphase; positive regulation of cell cycle cytokinesis; positive regulation of chromosome segregation | 17q21.3 |
| CDC7 | phosphorylation; positive regulation of cell proliferation; DNA replication; cell division; mitotic cell cycle; M/G1 transition of mitotic cell cycle; regulation of S phase; G1/S transition of mitotic cell cycle; cell cycle checkpoint | 1p22 |
| CDC73 | histone H2B ubiquitination; cell cycle; histone monoubiquitination; protein destabilization; negative regulation of fibroblast proliferation; transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; negative regulation of epithelial cell proliferation | 1q25 |
| CDCA2 | cell division; mitosis; cell cycle | 8p21.2 |
| CDCA3 | cell division; mitosis; cell cycle | 12p13 |
| CDCA4 | - | 14q32.33 |
| CDCA5 | cell division; G1/S transition of mitotic cell cycle; double-strand break repair; cell cycle; mitotic sister chromatid cohesion; interphase of mitotic cell cycle; mitosis; mitotic chromosome condensation; mitotic metaphase plate congression; regulation of cohesin localization to chromatin | 11q12.1 |
| CDCA7 | regulation of cell proliferation; regulation of transcription, DNA-dependent | 2q31 |
| CDCA7L | regulation of transcription, DNA-dependent; positive regulation of cell proliferation | 7p15.3 |
| CDCA8 | cell division; chromosome organization; mitotic cell cycle; mitotic prometaphase; mitotic metaphase; M phase of mitotic cell cycle | 1p34.3 |
| CDCP1 | - | 3p21.31 |
| CDCP2 | - | 1p32.3 |
| CDH1 | cellular component disassembly involved in apoptosis; apoptotic process; cellular response to indole-3-methanol; cellular response to lithium ion; regulation of immune response; positive regulation of transcription, DNA-dependent; cell-cell junction organization; positive regulation of transcription factor import into nucleus; response to drug; adherens junction organization; cell junction assembly; neuron projection development; negative regulation of cell-cell adhesion; pituitary gland development; cell-cell adhesion; response to organic substance; response to toxin; synapse assembly; homophilic cell adhesion; cell adhesion | 16q22.1 |
| CDH10 | cell-cell adhesion; homophilic cell adhesion; cell junction assembly; adherens junction organization; cell-cell junction organization | 5p14.2 |
| CDH11 | cell-cell junction organization; skeletal system development; ossification; cell adhesion; homophilic cell adhesion; cell-cell adhesion; cell junction assembly; adherens junction organization | 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 smooth muscle cell proliferation; positive regulation of calcium-mediated signaling; positive regulation of positive chemotaxis; low-density lipoprotein particle mediated signaling; localization within membrane; positive regulation of endothelial cell proliferation; lamellipodium assembly; cell-cell junction organization; keratinocyte proliferation; endothelial cell migration; regulation of epidermal growth factor receptor signaling pathway; adherens junction organization; cell junction assembly; positive regulation of cell migration; regulation of endocytosis; positive regulation of survival gene product expression; Rac protein signal transduction; calcium-dependent cell-cell adhesion; negative regulation of cell proliferation; Rho protein signal transduction; negative regulation of cell adhesion; homophilic cell adhesion; sprouting angiogenesis; positive regulation of cell-matrix adhesion | 16q23.3 |
| CDH15 | cell adhesion; homophilic cell adhesion; cell junction assembly; adherens junction organization; muscle cell differentiation; cell-cell junction organization; positive regulation of muscle cell differentiation | 16q24.3 |
| CDH16 | homophilic cell adhesion; cell adhesion | 16q22.1 |
| CDH17 | calcium-dependent cell-cell adhesion; homophilic cell adhesion; cell adhesion; transport; oligopeptide transmembrane transport | 8q22.1 |
| CDH18 | cell-cell junction organization; adherens junction organization; cell junction assembly; homophilic cell adhesion; cell adhesion | 5p14.3 |
| CDH19 | cell adhesion; homophilic cell adhesion; cell-cell adhesion | 18q22.1 |
| CDH2 | striated muscle cell differentiation; positive regulation of muscle cell differentiation; negative regulation of canonical Wnt receptor signaling pathway; regulation of axonogenesis; blood vessel morphogenesis; cell-cell junction organization; positive regulation of MAPK cascade; muscle cell differentiation; regulation of Rho protein signal transduction; adherens junction organization; regulation of protein localization; regulation of myelination; cell migration; calcium-dependent cell-cell adhesion; synapse assembly; heterophilic cell-cell adhesion; cell adhesion; cell junction assembly; homophilic cell adhesion | 18q11.2 |
| CDH20 | cell-cell adhesion; homophilic cell adhesion | 18q21.33 |
| CDH22 | cell adhesion; homophilic cell adhesion | 20q13.1 |
| CDH23 | response to stimulus; righting reflex; sensory perception of sound; homophilic cell adhesion; cytosolic calcium ion homeostasis; equilibrioception; sensory perception of light stimulus; post-embryonic organ morphogenesis; photoreceptor cell maintenance; auditory receptor cell differentiation; auditory receptor cell stereocilium organization; adult locomotory behavior; cell adhesion; calcium-dependent cell-cell adhesion; inner ear morphogenesis; calcium ion transport | 10q22.1 |
| CDH24 | homophilic cell adhesion; cell junction assembly; cell-cell adhesion; cell-cell junction organization; adherens junction organization | 14q11.2 |
| CDH26 | homophilic cell adhesion; cell adhesion | 20q13.33 |
| CDH3 | cell-cell junction organization; cell adhesion; homophilic cell adhesion; visual perception; cell junction assembly; adherens junction organization; response to stimulus | 16q22.1 |
| CDH4 | cell junction assembly; homophilic cell adhesion; heterophilic cell-cell adhesion; axon guidance; adherens junction organization; cell-cell junction organization; positive regulation of axon extension; cell adhesion | 20q13.3 |
| CDH5 | blood vessel maturation; regulation of establishment of cell polarity; cell-cell junction organization; adherens junction organization; cell junction assembly; negative regulation of cell proliferation; homophilic cell adhesion; cell adhesion | 16q22.1 |
| CDH6 | homophilic cell adhesion; cell adhesion; cell junction assembly; adherens junction organization; cell-cell junction organization | 5p13.3 |
| CDH7 | cell-cell junction organization; adherens junction organization; cell junction assembly; cell-cell adhesion; homophilic cell adhesion | 18q22.1 |
| CDH8 | cell-cell junction organization; adherens junction organization; cell junction assembly; homophilic cell adhesion; cell adhesion | 16q22.1 |
| CDH9 | adherens junction organization; cell-cell junction organization; cell-cell adhesion; cell junction assembly; homophilic cell adhesion | 5p14 |
| CDHR1 | cell adhesion; homophilic cell adhesion; photoreceptor cell maintenance | 10q23.1 |
| CDHR2 | cell adhesion; negative regulation of cell growth; homophilic cell adhesion | 5q35.2 |
| CDHR3 | homophilic cell adhesion; cell adhesion | 7q22.3 |
| CDHR4 | cell adhesion; homophilic cell adhesion | 3p21.31 |
| CDHR5 | cell adhesion; calcium-dependent cell-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 | 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; positive regulation of gene expression; response to toxin; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; response to copper ion; cellular response to hydrogen peroxide; positive regulation of cardiac muscle cell proliferation; ventricular cardiac muscle cell development; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic | 10q21.1 |
| CDK10 | traversing start control point of mitotic cell cycle; negative regulation of cell proliferation | 16q24 |
| CDK11A | cell division; regulation of mRNA processing; regulation of mitosis; mitosis; apoptotic process; protein phosphorylation; regulation of transcription, DNA-dependent; blastocyst development; regulation of cell growth | 1p36.33 |
| CDK12 | mRNA processing; RNA splicing; regulation of MAP kinase activity; phosphorylation of RNA polymerase II C-terminal domain; protein autophosphorylation | 17q12 |
| CDK13 | protein phosphorylation; mRNA processing; alternative nuclear mRNA splicing, via spliceosome; phosphorylation of RNA polymerase II C-terminal domain; interspecies interaction between organisms; hemopoiesis; regulation of mitosis; multicellular organismal development; positive regulation of cell proliferation; RNA splicing | 7p13 |
| CDK14 | G2/M transition of mitotic cell cycle; cell cycle; regulation of canonical Wnt receptor signaling pathway; cell division; Wnt receptor signaling pathway | 7q21-q22 |
| CDK15 | - | 2q33.2 |
| CDK16 | protein phosphorylation | Xp11 |
| CDK17 | protein phosphorylation | 12q23.1 |
| CDK18 | protein phosphorylation; signal transduction | 1q31-q32 |
| CDK19 | cell division | 6q21 |
| CDK2 | phosphorylation; positive regulation of cell proliferation; blood coagulation; Ras protein signal transduction; meiosis; traversing start control point of mitotic cell cycle; histone phosphorylation; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mitotic cell cycle G1/S transition DNA damage checkpoint; positive regulation of transcription, DNA-dependent; centrosome duplication; cell division; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of gene silencing; mitosis; cell cycle; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; potassium ion transport; protein phosphorylation; DNA repair; regulation of DNA replication; 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; cellular response t | 12q13 |
| CDK20 | cell division; multicellular organismal development | 9q22.1 |
| CDK2AP1 | DNA-dependent DNA replication; protein phosphorylation; cell cycle; S phase of mitotic 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 | cell division; regulation of cell cycle; positive regulation of fibroblast proliferation; response to drug; regulation of gene expression; positive regulation of cell proliferation; cell cycle; protein phosphorylation; mitotic cell cycle; S phase of mitotic cell cycle; signal transduction; 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; dendrite morphogenesis; 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; cell division; neuron apoptosis; regulation of excitatory postsynaptic membrane potential; regulation of dendritic spine morphogenesis; regulation of cell | 7q36 |
| CDK5R1 | G-protein coupled acetylcholine receptor signaling pathway; 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; positive regulation of protein serine/threonine kinase activity; axon guidance; regulation of microtubule cytoskeleton organization; neuron cell-cell adhesion; protein phosphorylation; neuron migration; regulation of cyclin-dependent protein kinase activity; regulation of actin cytoskeleton organization; ionotropic glutamate receptor signaling pathway; positive regulation of neuron apoptosis; regulation of neuron differentiation; negative regulation of transcription, DNA-dependent; ephrin receptor signaling pathway; regulation of dendritic spine morphogenesis | 17q11.2 |
| CDK5R2 | regulation of cyclin-dependent protein kinase activity | 2q35 |
| CDK5RAP1 | RNA modification; brain development; negative regulation of cyclin-dependent protein kinase activity; tRNA modification; regulation of neuron differentiation | 20q11.21 |
| CDK5RAP2 | mitotic cell cycle; regulation of spindle checkpoint; brain development; chromosome segregation; neurogenesis; negative regulation of centriole replication; microtubule cytoskeleton organization; microtubule bundle formation; regulation of neuron differentiation; centrosome organization; negative regulation of neuron differentiation; positive regulation of transcription, DNA-dependent; establishment of mitotic spindle orientation; G2/M transition of mitotic cell cycle | 9q33.2 |
| CDK5RAP3 | regulation of cyclin-dependent protein kinase activity; brain development; regulation of neuron differentiation | 17q21.32 |
| CDK6 | hemopoiesis; gliogenesis; cell dedifferentiation; negative regulation of cell differentiation; negative regulation of myeloid cell differentiation; regulation of erythrocyte differentiation; negative regulation of osteoblast differentiation; negative regulation of cell cycle; positive regulation of fibroblast proliferation; generation of neurons; negative regulation of epithelial cell proliferation; cell division; regulation of cell motility; negative regulation of cellular senescence; dentate gyrus development; lateral ventricle development; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; mitotic cell cycle; positive regulation of cell-matrix adhesion; type B pancreatic cell development; protein phosphorylation; cell cycle; cell cycle arrest; negative regulation of cell proliferation; response to virus; regulation of gene expression; astrocyte development | 7q21-q22 |
| CDK7 | transcription elongation from RNA polymerase I promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; mRNA capping; 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; termination of RNA polymerase I transcription; 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; transcription from RNA polymerase II promoter; nucleotide-ex | 5q12.1 |
| CDK8 | protein phosphorylation; gene expression; regulation of transcription, DNA-dependent | 13q12 |
| CDK9 | cellular response to cytokine stimulus; negative regulation of cell cycle arrest; positive regulation of viral transcription; replication fork arrest; regulation of histone modification; viral reproduction; gene expression; cell cycle; protein phosphorylation; 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; regulation of DNA repair; cell proliferation | 9q34.1 |
| CDKAL1 | RNA modification | 6p22.3 |
| CDKL1 | cell cycle; heart development; protein phosphorylation | 14q21.3 |
| CDKL2 | sex differentiation; signal transduction; protein phosphorylation | 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; protein autophosphorylation; positive regulation of dendrite morphogenesis; regulation of dendrite development | Xp22 |
| CDKN1A | negative regulation of cyclin-dependent protein kinase activity; negative regulation of cell growth; positive regulation of programmed cell death; negative regulation of apoptotic process; response to drug; regulation of protein import into nucleus, translocation; cellular response to extracellular stimulus; organ regeneration; positive regulation of B cell proliferation; negative regulation of phosphorylation; 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 cycle; S phase of mitotic cell cyc | 6p21.2 |
| CDKN1B | positive regulation of microtubule polymerization; negative regulation of kinase activity; 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 cell growth; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; 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; negative regulation of mitotic cell cycle; positive regulation of cell death; phosphorylation; cell cycle checkpoint; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; G1/S transition of mi | 12p13.1-p12 |
| CDKN1C | negative regulation of kinase activity; negative regulation of epithelial cell proliferation; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; neuron maturation; negative regulation of phosphorylation; regulation of cyclin-dependent protein kinase activity; negative regulation of cell proliferation; cell cycle arrest; cell cycle; negative regulation of transcription from RNA polymerase II promoter; G1 phase of mitotic cell cycle; positive regulation of transforming growth factor beta receptor signaling pathway | 11p15.5 |
| CDKN2A | senescence-associated heterochromatin focus assembly; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of cyclin-dependent protein kinase activity; positive regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of phosphorylation; protein stabilization; positive regulation of smooth muscle cell apoptosis; positive regulation of protein sumoylation; negative regulation of immature T cell proliferation in thymus; regulation of protein export from nucleus; somatic stem cell division; negative regulation of ubiquitin-protein ligase activity; protein K63-linked ubiquitination; positive regulation of cell cycle arrest; cellular senescence; replicative senescence; positive regulation of macrophage apoptosis; positive regulation of cellular senescence; activation of cysteine-type endopeptidase activity involved in apoptotic proce | 9p21 |
| CDKN2A-AS1 | - | 9p21.3 |
| CDKN2AIP | regulation of protein stability; negative regulation of cell growth; positive regulation of signal transduction | 4q35.1 |
| CDKN2AIPNL | - | 5q31.1 |
| CDKN2AIPNLP1 | - | 1q42.12 |
| CDKN2AIPNLP2 | - | 2p23.3 |
| CDKN2AIPNLP3 | - | - |
| CDKN2B | mitotic cell cycle G1/S transition checkpoint; positive regulation of epithelial cell differentiation; positive regulation of transforming growth factor beta receptor signaling pathway; 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; 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 | 9p21 |
| CDKN2B-AS1 | - | 9p21.3 |
| CDKN2C | mitotic cell cycle; negative regulation of phosphorylation; negative regulation of cell growth; negative regulation of cell proliferation; regulation of cyclin-dependent protein kinase activity; cell cycle arrest; induction of apoptosis; oligodendrocyte differentiation; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle | 1p32 |
| CDKN2D | negative regulation of cell growth; response to vitamin D; negative regulation of phosphorylation; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; autophagic cell death; response to retinoic acid; response to UV; negative regulation of cell proliferation; cell cycle arrest; anti-apoptosis; DNA synthesis involved in DNA repair; mitotic cell cycle; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity | 19p13 |
| CDKN3 | peptidyl-tyrosine dephosphorylation; negative regulation of cell proliferation; cell cycle arrest; cell cycle; G1/S transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity | 14q22 |
| CDNF | - | 10p13 |
| CDO1 | small molecule metabolic process; oxidation-reduction process; response to glucocorticoid stimulus; response to ethanol; response to amino acid stimulus; taurine biosynthetic process; cellular nitrogen compound metabolic process; response to glucagon stimulus; L-cysteine catabolic process; response to organic nitrogen; lactation; inflammatory response; cysteine metabolic process; sulfur amino acid catabolic process; sulfur amino acid biosynthetic process; sulfur amino acid metabolic process; response to cAMP | 5q23.2 |
| CDON | muscle cell differentiation; positive regulation of 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; skin morphogenesis; keratinocyte differentiation; epidermis development; cell adhesion | 6p21.3 |
| CDT1 | regulation of DNA-dependent DNA replication initiation; 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; M/G1 transition of mitotic cell cycle; mitotic cell cycle; DNA replication; regulation of S phase of mitotic cell cycle | 16q24.3 |
| CDV3 | cell proliferation | 3q22.1 |
| CDV3P1 | - | 3q11.2 |
| CDX1 | positive regulation of transcription from RNA polymerase II promoter; bone morphogenesis; anterior/posterior pattern specification; organ morphogenesis; pattern specification process | 5q32 |
| CDX2 | regulation of transcription, DNA-dependent; labyrinthine layer development; positive regulation of cell differentiation; somatic stem cell maintenance; anterior/posterior pattern specification; organ morphogenesis; pattern specification process; 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 | 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 | signal transduction; cell-cell signaling | 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; acute-phase response; transcription from RNA polymerase II promoter; myeloid cell differentiation; regulation of transcription, DNA-dependent; transcription, DNA-dependent; generation of precursor metabolites and energy; embryonic placenta development; liver development; negative regulation of transcription from RNA polymerase II promoter; urea cycle; response to nutrient; cholesterol metabolic process; negative regulation of cell proliferation; cytokine-mediated signaling pathway; macrophage differentiation; lung development; 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; positive regulation of transcription from RNA polymerase II promoter; positive regulation of osteoblast differentiation; positive regulation of fat cell differentiation; interspecies interaction | 19q13.1 |
| CEBPA-AS1 | - | 19q13.11 |
| CEBPB | induction of apoptosis; cellular response to amino acid stimulus; mammary gland epithelial cell differentiation; brown fat cell differentiation; negative regulation of transcription, DNA-dependent; positive regulation of osteoblast differentiation; regulation of interleukin-6 biosynthetic process; mammary gland epithelial cell proliferation; response to lipopolysaccharide; neuron differentiation; immune response; inflammatory response; acute-phase response; anti-apoptosis; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; embryonic placenta development | 20q13.1 |
| CEBPD | transcription from RNA polymerase II promoter | 8p11.2-p11.1 |
| CEBPE | cytokine biosynthetic process; macrophage differentiation; myeloid cell differentiation; defense response to bacterium; cellular response to lipopolysaccharide; defense response; phagocytosis | 14q11.2 |
| CEBPG | enucleate erythrocyte differentiation; natural killer cell mediated cytotoxicity; B cell differentiation; mRNA metabolic process; immune response; regulation of transcription from RNA polymerase II promoter; liver development; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of DNA repair; positive regulation of interferon-gamma biosynthetic process; positive regulation of DNA binding; negative regulation of sequence-specific DNA binding transcription factor activity | 19q13.11 |
| CEBPZ | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 2p22.2 |
| CEBPZOS | - | 2p22 |
| CECR1 | purine ribonucleoside monophosphate biosynthetic process; hypoxanthine salvage; inosine biosynthetic process; multicellular organismal development; adenosine catabolic process | 22q11.2 |
| CECR2 | DNA fragmentation involved in apoptotic nuclear change; cytokinesis; apoptotic process; vesicle-mediated transport; cytoskeleton organization; chromatin modification | 22q11.2 |
| CECR5 | metabolic process | - |
| CECR5-AS1 | - | 22q11.1 |
| CECR6 | - | - |
| CECR7 | - | 22q11.1 |
| CEL | lipid catabolic process; small molecule metabolic process; ceramide catabolic 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 | Wnt receptor signaling pathway; post-embryonic development; inflammatory response; proteolysis; negative regulation of transcription from RNA polymerase II promoter; exocrine pancreas development; multicellular organism growth; regulation of cell proliferation; regulation of cell differentiation; positive regulation of transcription from RNA polymerase II promoter; pancreas morphogenesis | 12q13 |
| CELA2A | proteolysis | 1p36.21 |
| CELA3A | cholesterol metabolic process; digestion; proteolysis | 1p36.12 |
| CELF1 | embryo development; mRNA processing; regulation of RNA splicing; mRNA splice site selection; germ cell development; RNA interference | 11p11 |
| CELF2 | RNA processing; mRNA processing; regulation of heart contraction | 10p13 |
| CELF2-AS1 | - | 10p14 |
| CELF2-AS2 | - | 10p14 |
| CELF3 | RNA splicing; sperm motility; positive regulation of nuclear mRNA splicing, via spliceosome; nuclear mRNA splicing, via spliceosome; spermatogenesis; regulation of alternative nuclear mRNA splicing, via spliceosome | 1q21 |
| CELF4 | RNA splicing; embryo development; positive regulation of nuclear mRNA splicing, via spliceosome; germ cell development; mRNA processing; 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 | neuropeptide signaling pathway; Rho protein signal transduction; G-protein coupled receptor signaling pathway; multicellular organismal development; central nervous system development; homophilic cell adhesion; cell adhesion; hair follicle development; anterior/posterior pattern specification; neural tube closure; neuron migration; establishment of planar polarity; locomotory behavior; inner ear morphogenesis; planar cell polarity pathway involved in neural tube closure; lateral sprouting involved in lung morphogenesis; protein localization involved in establishment of planar polarity; planar dichotomous subdivision of terminal units involved in lung branching morphogenesis; orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis; establishment of body hair planar orientation; apical protein localization; regulation of actin cytoskeleton organization; establishment of planar polarity of embryonic epithelium; wound healing | 22q13.3 |
| CELSR2 | spermatogenesis; multicellular organismal development; neuron migration; Wnt receptor signaling pathway; neuropeptide signaling pathway; neural plate anterior/posterior regionalization; regulation of cell-cell adhesion; dendrite morphogenesis; regulation of transcription, DNA-dependent; cell adhesion; homophilic cell adhesion; G-protein coupled receptor signaling pathway | 1p21 |
| CELSR3 | neuropeptide signaling pathway; multicellular organismal development; G-protein coupled receptor signaling pathway; homophilic cell adhesion; cell adhesion; neuron migration; axonal fasciculation | 3p21.31 |
| CEMIP | - | 15q24 |
| CEND1 | - | 11p15.5 |
| CENPA | protein localization to chromosome, centromeric region; kinetochore assembly; interspecies interaction between organisms; CenH3-containing nucleosome assembly at centromere; nucleosome assembly; mitotic cell cycle; mitotic prometaphase; 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; mitotic metaphase; M phase of mitotic cell cycle; positive regulation of attachment of spindle microtubules to kinetochore; kinetochore assembly; cell division; mitotic metaphase plate congression; mitotic chromosome movement towards spindle pole; microtubule-based movement; mitotic cell cycle; positive regulation of protein kinase activity; positive regulation of mitotic metaphase/anaphase transition; establishment of protein localization; blood coagulation; multicellular organismal development; regulation of mitosis; mitotic prometaphase; regulation of developmental process | 4q24-q25 |
| CENPF | multicellular organismal development; mitotic cell cycle spindle assembly checkpoint; protein transport; chromosome segregation; DNA replication; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; G2 phase of mitotic cell cycle; cell proliferation; muscle organ development; kinetochore assembly; metaphase plate congression; cell division; negative regulation of transcription, DNA-dependent; response to drug; cell differentiation; regulation of striated muscle tissue development; regulation of G2/M transition of mitotic cell cycle | 1q41 |
| CENPH | nucleosome assembly; chromosome segregation; CenH3-containing nucleosome assembly at centromere; M phase of mitotic cell cycle; mitotic prometaphase; cell division; kinetochore organization; mitotic cell cycle | 5p15.2 |
| CENPI | follicle-stimulating hormone signaling pathway; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; nucleosome assembly; sex differentiation; CenH3-containing nucleosome assembly at centromere | Xq22.1 |
| CENPIP1 | - | - |
| CENPJ | cell division; centriole replication; mitotic cell cycle; regulation of centriole replication; microtubule polymerization; microtubule nucleation; G2/M transition of mitotic cell cycle | 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 | mitotic prometaphase; M phase of mitotic cell cycle; mitotic cell cycle | 1q25.1 |
| CENPM | mitotic cell cycle; M phase of mitotic cell cycle; mitotic prometaphase | 22q13.2 |
| CENPN | mitotic cell cycle; mitotic prometaphase; nucleosome assembly; CenH3-containing nucleosome assembly at centromere; M phase of mitotic cell cycle | 16q23.2 |
| CENPO | nucleosome assembly; mitotic prometaphase; mitotic cell cycle; M phase of mitotic cell cycle; CenH3-containing nucleosome assembly at centromere; cell division; chromosome segregation | 2p23.3 |
| CENPP | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; nucleosome assembly; CenH3-containing nucleosome assembly at centromere | 9q22.31 |
| CENPQ | mitotic prometaphase; CenH3-containing nucleosome assembly at centromere; nucleosome assembly; mitotic cell cycle; M phase of mitotic cell cycle | 6p12.3 |
| CENPT | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle | 16q22.1 |
| CENPU | nucleosome assembly; interspecies interaction between organisms; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; regulation of transcription, DNA-dependent; CenH3-containing nucleosome assembly at centromere | 4q35.1 |
| CENPV | positive regulation of cytokinesis; centromere complex assembly; regulation of chromosome organization; centromeric heterochromatin assembly; metabolic process; mitosis; cell cycle; ameboidal cell migration; cell division | 17p11.2 |
| CENPVP3 | - | Xp11.22 |
| CENPW | centromeric core chromatin assembly; chromosome segregation | 6q22.32 |
| CEP104 | - | 1p36.32 |
| CEP112 | - | 17q24.1 |
| CEP120 | interkinetic nuclear migration; neurogenesis; cerebral cortex development; astral microtubule organization; regulation of protein localization; regulation of microtubule-based process; microtubule cytoskeleton organization; cell proliferation | 5q23.2 |
| CEP126 | - | 11q22.1 |
| CEP128 | - | 14q31.1 |
| CEP131 | cell differentiation; spermatogenesis; multicellular organismal development; mitotic cell cycle; G2/M transition of mitotic cell cycle | 17q25.3 |
| CEP135 | centriole-centriole cohesion; centriole replication; G2/M transition of mitotic cell cycle; mitotic cell cycle | 4q12 |
| CEP152 | centrosome duplication; G2/M transition of mitotic cell cycle; mitotic cell cycle | 15q21.1 |
| CEP162 | cell division; mitosis; cell cycle | 6q14.3 |
| CEP164 | cell division; mitosis; DNA repair; mitotic cell cycle; G2/M transition of mitotic cell cycle | 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; spindle assembly; centrosome duplication | 18p11.21 |
| CEP250 | regulation of centriole-centriole cohesion; centriole-centriole cohesion; G2/M transition of mitotic cell cycle; protein localization; mitotic cell cycle | 20q11.22 |
| CEP290 | cilium morphogenesis; pronephros development; positive regulation of transcription, DNA-dependent; eye photoreceptor cell development; G2/M transition of mitotic cell cycle; mitotic cell cycle; protein transport; cell projection organization; hindbrain development; otic vesicle formation; cilium assembly | 12q21.32 |
| CEP295 | - | 11q21 |
| CEP295NL | - | 17q25 |
| CEP350 | - | 1q25.2 |
| CEP41 | cilium assembly; protein polyglutamylation; G2/M transition of mitotic cell cycle; mitotic cell cycle | 7q32 |
| CEP44 | - | 4q34 |
| CEP55 | mitosis; cell cycle; cytokinesis | 10q23.33 |
| CEP57 | protein import into nucleus, translocation; G2/M transition of mitotic cell cycle; mitotic cell cycle; spermatid development; fibroblast growth factor receptor signaling pathway; protein homooligomerization | 11q21 |
| CEP57L1 | - | 6q21 |
| CEP63 | mitosis; mitotic cell cycle; signal transduction in response to DNA damage; spindle assembly; cell division; DNA damage checkpoint; G2/M transition of mitotic cell cycle | 3q22.2 |
| CEP68 | centrosome organization | 2p14 |
| CEP70 | G2/M transition of mitotic cell cycle; mitotic cell cycle | 3q22.3 |
| CEP72 | gamma-tubulin complex localization; spindle organization; mitotic cell cycle; G2/M transition of mitotic cell cycle | 5p15.33 |
| CEP76 | regulation of centriole replication; G2/M transition of mitotic cell cycle; mitotic cell cycle | 18p11.21 |
| CEP78 | G2/M transition of mitotic cell cycle; 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 | lipid metabolic process; phospholipid biosynthetic process | 1p13.3 |
| CERCAM | cell adhesion; leukocyte cell-cell adhesion; lipopolysaccharide biosynthetic process; cellular component movement | 9q34.11 |
| CERK | activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; glycosphingolipid metabolic process; sphingolipid metabolic process; ceramide metabolic process; small molecule metabolic process | 22q13.31 |
| CERKL | anti-apoptosis; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway | 2q31.3 |
| CERS1 | small molecule metabolic process; sphingolipid biosynthetic process; lipid biosynthetic process; ceramide biosynthetic process; sphingolipid metabolic process; brain development | 19p12 |
| CERS2 | lipid biosynthetic process; ceramide biosynthetic process; small molecule metabolic process; sphingolipid biosynthetic process; sphingolipid metabolic process | 1q21.3 |
| CERS3 | sphingolipid biosynthetic process; sphingolipid metabolic process; lipid biosynthetic process; small molecule metabolic process | 15q26.3 |
| CERS4 | sphingolipid metabolic process; lipid biosynthetic process; sphingolipid biosynthetic process; small molecule metabolic process; ceramide biosynthetic process | 19p13.2 |
| CERS5 | ceramide biosynthetic process; lipid biosynthetic process; sphingolipid biosynthetic process; sphingolipid metabolic process; small molecule metabolic 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 | spermatogenesis; cell division; regulation of cytokinesis; centriole replication; mitosis; nucleotide-excision repair; mitotic cell cycle; G2/M transition of mitotic cell cycle | Xq28 |
| CETN3 | cell cycle; mitosis; centrosome cycle; cell division | 5q14.3 |
| CETN4P | - | 4q27 |
| CETP | phospholipid homeostasis; lipid metabolic process; triglyceride metabolic process; transport; triglyceride homeostasis; small molecule metabolic process; reverse cholesterol transport; cholesterol homeostasis; lipoprotein metabolic process; high-density lipoprotein particle remodeling; low-density lipoprotein particle remodeling; phosphatidylcholine metabolic process; lipid transport; lipid homeostasis; very-low-density lipoprotein particle remodeling; cholesterol transport; phospholipid transport; regulation of cholesterol efflux; negative regulation of macrophage derived foam cell differentiation; cholesterol metabolic process; steroid metabolic process; receptor-mediated endocytosis | 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 | complement activation; proteolysis; complement activation, alternative pathway; innate immune response | 6p21.3 |
| CFD | platelet activation; innate immune response; platelet degranulation; proteolysis; complement activation; complement activation, alternative pathway; Notch signaling pathway; blood coagulation | 19p13.3 |
| CFDP1 | regulation of cell proliferation; regulation of cell shape; multicellular organismal development; anti-apoptosis; cell adhesion | 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 | proteolysis; complement activation, classical pathway; innate immune response | 4q25 |
| CFL1 | platelet activation; actin cytoskeleton organization; regulation of cell morphogenesis; response to virus; blood coagulation; Rho protein signal transduction; cytoskeleton organization; anti-apoptosis; platelet degranulation; axon guidance | 11q13 |
| CFL1P1 | - | 10q23.31 |
| CFL1P2 | - | 1p32.3 |
| CFL1P3 | - | 1p31.3 |
| CFL1P5 | - | 5q13.2 |
| CFL1P6 | - | 1p36.22 |
| CFL1P8 | - | - |
| CFL2 | - | 14q12 |
| CFLAR | proteolysis; anti-apoptosis; 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; induction of apoptosis by extracellular signals | 2q33-q34 |
| CFLAR-AS1 | - | 2q33 |
| CFP | defense response to bacterium; complement activation, alternative pathway; innate immune response; complement activation; immune response | Xp11.4 |
| CFTR | transmembrane transport; positive regulation of vasodilation; 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; transport; cholesterol biosynthetic process | 7q31.2 |
| CFTRP1 | - | 20p11.1 |
| CGA | cellular nitrogen compound metabolic process; cellular response to hormone stimulus; luteinizing hormone secretion; signal transduction; thyroid gland development; small molecule metabolic process; negative regulation of organ growth; follicle-stimulating hormone secretion; developmental growth; gonad development; peptide hormone processing; thyroid hormone generation; cell-cell signaling | 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 | cell adhesion; cell cycle arrest; negative regulation of cell proliferation; cell cycle; response to stress | 2p23.3 |
| CGRRF1 | response to stress; negative regulation of cell growth; negative regulation of cell proliferation; cell cycle arrest; cell cycle | 14q22.2 |
| CH25H | cholesterol metabolic process; lipid metabolic process; fatty acid biosynthetic process; bile acid biosynthetic process; bile acid metabolic process; sterol biosynthetic process; small molecule metabolic process | 10q23 |
| CHAC1 | response to unfolded protein; apoptosis in response to endoplasmic reticulum stress | 15q15.1 |
| CHAC2 | - | 2p16 |
| CHAD | regulation of cell growth | 17q21.33 |
| CHADL | - | 22q13.2 |
| CHAF1A | regulation of transcription, DNA-dependent; DNA replication; DNA repair; DNA replication-dependent nucleosome assembly; protein complex assembly; cell cycle; chromatin assembly | 19p13.3 |
| CHAF1B | DNA replication; DNA repair; cell cycle; protein complex assembly; regulation of transcription, DNA-dependent; DNA replication-dependent nucleosome assembly; chromatin assembly | 21q22.13 |
| CHAMP1 | attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation; protein localization to kinetochore; protein localization to microtubule; sister chromatid biorientation | 13q34 |
| CHAT | dendrite development; neuron differentiation; response to ethanol; response to drug; rhythmic excitation; acetylcholine biosynthetic process; adult walking behavior; rhythmic behavior; memory; response to nutrient; muscle organ development; neuromuscular synaptic transmission; neurotransmitter secretion; synaptic transmission; response to hypoxia; antral ovarian follicle growth; establishment of synaptic specificity at neuromuscular junction | 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 | inner mitochondrial membrane organization; mitochondrial fusion | 7q33 |
| CHCHD3P1 | - | 10p14 |
| CHCHD3P3 | - | 1p36.11 |
| CHCHD4 | protein transport | 3p25.1 |
| CHCHD4P4 | - | 3p25.3 |
| CHCHD5 | - | 2q13 |
| CHCHD6 | - | 3q21.3 |
| CHCHD7 | - | 8q12.1 |
| CHD1 | regulation of transcription from RNA polymerase II promoter; chromatin remodeling | 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 from RNA polymerase II promoter; regulation of transcription, DNA-dependent; spindle organization; chromatin modification; centrosome organization | 17p13.1 |
| CHD4 | regulation of transcription from RNA polymerase II promoter; chromatin modification | 12p13 |
| CHD5 | regulation of transcription, DNA-dependent; chromatin modification | 1p36.31 |
| CHD6 | regulation of transcription, DNA-dependent; chromatin remodeling; nervous system development | 20q12 |
| CHD7 | blood circulation; sensory perception of sound; inner ear morphogenesis; positive regulation of multicellular organism growth; embryonic hindlimb morphogenesis; female genitalia development; T cell differentiation; cranial nerve development; chromatin modification; adult walking behavior; locomotory behavior; limb development; adult heart development; central nervous system development; regulation of transcription, DNA-dependent; heart morphogenesis; in utero embryonic development; face development; blood vessel development; skeletal system development; nose development; regulation of growth hormone secretion; semicircular canal morphogenesis; genitalia development; retina development in camera-type eye; palate development; artery morphogenesis; cognition | 8q12.2 |
| CHD8 | negative regulation of transcription, DNA-dependent; chromatin modification; negative regulation of Wnt receptor signaling pathway; in utero embryonic development; DNA duplex unwinding; ATP-dependent chromatin remodeling; negative regulation of apoptotic process; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; canonical Wnt receptor signaling pathway; positive regulation of transcription from RNA polymerase III promoter | 14q11.2 |
| CHD9 | chromatin modification; small molecule metabolic process; cellular lipid metabolic process; regulation of transcription, DNA-dependent | 16q12.2 |
| CHDH | alcohol metabolic process | 3p21.1 |
| CHEK1 | DNA repair; cell cycle checkpoint; DNA damage checkpoint; G2/M transition of mitotic cell cycle; DNA replication; DNA damage induced protein phosphorylation; cell cycle; regulation of double-strand break repair via homologous recombination; regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage; peptidyl-threonine phosphorylation; G2/M transition DNA damage checkpoint; regulation of S phase; histone H3-T11 phosphorylation; negative regulation of mitosis; response to DNA damage stimulus; chromatin-mediated maintenance of transcription; cellular response to mechanical stimulus; cellular response to organic substance; cellular response to caffeine; replicative senescence; regulation of histone H3-K9 acetylation; regulation of mitotic centrosome separation | 11q24.2 |
| CHEK2 | G2/M transition of mitotic cell cycle; DNA damage checkpoint; replicative senescence; cell cycle checkpoint; double-strand break repair; regulation of transcription, DNA-dependent; apoptotic process; response to DNA damage stimulus; cell cycle; spindle assembly involved in mitosis; signal transduction involved in intra-S DNA damage checkpoint; cell division; protein autophosphorylation; positive regulation of transcription, DNA-dependent; cellular protein catabolic process; signal transduction in response to DNA damage; regulation of protein catabolic process; response to gamma radiation; DNA damage response, signal transduction resulting in induction of apoptosis; DNA damage induced protein phosphorylation | 22q12.1 |
| CHEK2P1 | - | Yq11.21 |
| CHERP | RNA processing; cellular calcium ion homeostasis; nervous system development; negative regulation of cell proliferation; release of sequestered calcium ion into cytosol; positive regulation of NFAT protein import into nucleus | 19p13.1 |
| CHFR | protein polyubiquitination; cell cycle; cell division; modification-dependent protein catabolic process; mitotic cell cycle checkpoint; mitosis | 12q24.33 |
| CHGA | regulation of blood pressure | 14q32 |
| CHGB | - | 20pter-p12 |
| CHI3L1 | positive regulation of protein kinase B signaling cascade; interleukin-8 secretion; cellular response to tumor necrosis factor; cellular response to interleukin-1; response to interleukin-6; response to interleukin-1; positive regulation of ERK1 and ERK2 cascade; cartilage development; response to tumor necrosis factor; carbohydrate metabolic process; lung development; positive regulation of peptidyl-threonine phosphorylation; response to mechanical stimulus; activation of NF-kappaB-inducing kinase activity; inflammatory response; chitin catabolic process; positive regulation of angiogenesis | 1q32.1 |
| CHI3L2 | chitin catabolic process; carbohydrate metabolic process | 1p13.3 |
| CHIA | chitin metabolic process; apoptotic process; cell wall chitin metabolic process; chitin catabolic process; immune response; digestion; response to fungus; carbohydrate metabolic process; production of molecular mediator involved in inflammatory response; response to acid; polysaccharide catabolic process; positive regulation of chemokine secretion | 1p13.2 |
| CHIAP1 | - | - |
| CHIAP2 | - | 1p13.2 |
| CHIC1 | - | Xq13.2 |
| CHIC2 | - | 4q11 |
| CHID1 | innate immune response; chitin catabolic process; carbohydrate metabolic process | 11p15.5 |
| CHIT1 | polysaccharide catabolic process; carbohydrate metabolic process; chitin catabolic process; immune response; response to bacterium | 1q32.1 |
| CHKA | phosphatidylcholine biosynthetic process; choline metabolic process; phospholipid biosynthetic process; signal transduction; CDP-choline pathway; lipid metabolic process; phosphatidylethanolamine biosynthetic process; lipid transport | 11q13.2 |
| CHKB | phosphatidylethanolamine biosynthetic process; CDP-choline pathway; muscle organ development; phospholipid biosynthetic process | 22q13.33 |
| CHKB-AS1 | - | 22q13.33 |
| CHL1 | nervous system development; multicellular organismal development; signal transduction; axon guidance; cell differentiation; cell adhesion | 3p26.1 |
| CHL1-AS2 | - | 3p26.3 |
| CHM | intracellular protein transport; response to stimulus; protein geranylgeranylation; visual perception; blood vessel development | Xq21.2 |
| CHML | intracellular protein transport; visual perception | 1q42-qter |
| CHMP1A | negative regulation of transcription, DNA-dependent; cell division; negative regulation of transcription by glucose; gene silencing; negative regulation of S phase of mitotic cell cycle; cell cycle; mitotic chromosome condensation; protein transport; vesicle-mediated transport | 16q24.3 |
| CHMP1B | protein transport; cell cycle; cell division | 18p11.21 |
| CHMP2A | endosome transport; cellular membrane organization; protein transport | 19q |
| CHMP2B | endosome transport; protein transport; cellular membrane organization | 3p11.2 |
| CHMP3 | cell division; endosome transport; cellular membrane organization; protein transport; cell cycle; apoptotic process | 2p11.2 |
| CHMP4A | cellular membrane organization; protein transport; endosome transport | 14q12 |
| CHMP4B | protein transport; cellular membrane organization; endosome transport | 20q11.22 |
| CHMP4C | protein transport; cellular membrane organization; endosome transport | 8q21.13 |
| CHMP5 | endosome transport; cellular membrane organization; protein transport; endosome to lysosome transport; lysosome organization; regulation of receptor recycling | 9p13.3 |
| CHMP6 | protein transport; cellular membrane organization; endosome transport | 17q25.3 |
| CHMP7 | cellular membrane organization; endosome transport; late endosome to vacuole transport; protein transport | 8p21.3 |
| CHN1 | nervous system development; regulation of small GTPase mediated signal transduction; regulation of axonogenesis; ephrin receptor signaling pathway; regulation of Rac GTPase activity; motor axon guidance; small GTPase mediated signal transduction | 2q31.1 |
| CHN2 | acrosome assembly; small GTPase mediated signal transduction; positive regulation of GTPase activity; regulation of small GTPase mediated signal transduction | 7p15.3 |
| CHODL | muscle organ development | 21q11.2 |
| CHORDC1 | chaperone-mediated protein folding; regulation of response to stress; regulation of centrosome duplication; negative regulation of Rho-dependent protein serine/threonine kinase activity | 11q14.3 |
| CHORDC2P | - | 14q32.11 |
| CHP1 | - | 15q13.3 |
| CHP2 | - | 16p12.2 |
| CHPF | - | 2q35 |
| CHPF2 | - | 7q36.1 |
| CHPT1 | phospholipid biosynthetic process; regulation of cell growth; platelet activating factor biosynthetic process; CDP-choline pathway; phosphatidylcholine biosynthetic process; lipid metabolic process | 12q |
| CHRAC1 | chromatin remodeling | 8q24.3 |
| CHRD | negative regulation of cell migration; positive regulation of cell adhesion; negative regulation of osteoblast differentiation; floor plate development; forebrain development; negative regulation of BMP signaling pathway; skeletal system development; gastrulation with mouth forming second; mesoderm formation; pattern specification process; central nervous system development; dorsal/ventral pattern formation; BMP signaling pathway involved in spinal cord dorsal/ventral patterning | 3q27 |
| CHRDL1 | nervous system development; multicellular organismal development; BMP signaling pathway; ossification; cell differentiation | Xq23 |
| CHRDL2 | cartilage development; ossification; multicellular organismal development; cell differentiation | 11q14 |
| CHRM1 | G-protein coupled acetylcholine receptor signaling pathway; regulation of locomotion; positive regulation of cell proliferation; cell proliferation; nervous system development; neuromuscular synaptic transmission; activation of phospholipase C activity by G-protein coupled acetylcholine receptor signaling pathway; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; G-protein coupled receptor signaling pathway; signal transduction; protein modification process | 11q13 |
| CHRM2 | synaptic transmission; response to virus; regulation of heart contraction; nervous system development; activation of phospholipase C activity by G-protein coupled acetylcholine receptor signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor signaling pathway; regulation of smooth muscle contraction | 7q31-q35 |
| CHRM3 | G-protein coupled receptor signaling pathway; regulation of insulin secretion; positive regulation of smooth muscle contraction; small molecule metabolic process; cell proliferation; digestion; nervous system development; G-protein coupled acetylcholine 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 | inhibition of adenylate cyclase activity by G-protein coupled acetylcholine receptor signaling pathway; regulation of phosphatidylinositol dephosphorylation; transmission of nerve impulse; cell proliferation; G-protein coupled acetylcholine receptor signaling pathway; dopamine transport | 15q26 |
| CHRNA1 | neuromuscular process; neuron homeostasis; musculoskeletal movement; skeletal muscle tissue growth; muscle cell homeostasis; regulation of membrane potential; regulation of action potential in neuron; neuromuscular synaptic transmission; synaptic transmission; signal transduction; ion transport; transport; skeletal muscle contraction; neuromuscular junction development | 2q31.1 |
| CHRNA10 | inner ear morphogenesis; cation transport; regulation of cell proliferation; synaptic transmission, cholinergic; elevation of cytosolic calcium ion concentration; detection of mechanical stimulus involved in sensory perception of sound | 11p15.5 |
| CHRNA2 | ion transport; signal transduction; synaptic transmission | 8p21 |
| CHRNA3 | response to inorganic substance; regulation of acetylcholine secretion; ion transmembrane transport; synaptic transmission, cholinergic; behavioral response to nicotine; regulation of membrane potential; response to drug; regulation of dendrite morphogenesis; regulation of excitatory postsynaptic membrane potential; synaptic transmission involved in micturition; heart development; locomotory behavior; ion transport; cation transport; regulation of smooth muscle contraction; signal transduction; activation of transmembrane receptor protein tyrosine kinase activity; synaptic transmission; nervous system development | 15q24 |
| CHRNA4 | sensory perception of pain; regulation of inhibitory postsynaptic membrane potential; membrane depolarization; cognition; neurological system process; regulation of membrane potential; B cell activation; behavioral response to nicotine; response to nicotine; regulation of dopamine secretion; locomotory behavior; regulation of action potential; response to hypoxia; DNA repair; ion transport; calcium ion transport; response to oxidative stress; signal transduction; synaptic transmission; synaptic transmission, cholinergic | 20q13.2-q13.3 |
| CHRNA5 | transport; ion transport; signal transduction; synaptic transmission; behavioral response to nicotine | 15q24 |
| CHRNA6 | regulation of dopamine secretion; transport; synaptic transmission; ion transmembrane transport; membrane depolarization; signal transduction; cation transport | 8p11.21 |
| CHRNA7 | positive regulation of cell proliferation; negative regulation of tumor necrosis factor production; response to nicotine; response to chemical stimulus; positive regulation of angiogenesis; cognition; synaptic transmission; memory; signal transduction; cellular calcium ion homeostasis; calcium ion transport; ion transport; response to hypoxia; activation of MAPK activity | 15q14 |
| CHRNA9 | ion transport; sensory perception of sound; synaptic transmission; elevation of cytosolic calcium ion concentration | 4p14 |
| CHRNB1 | signal transduction; neurological system process; muscle fiber development; regulation of membrane potential; behavioral response to nicotine; ion transmembrane transport; neuromuscular synaptic transmission; synaptic transmission, cholinergic; muscle contraction; cation transport; postsynaptic membrane organization | 17p13.1 |
| CHRNB2 | response to nicotine; behavioral response to nicotine; B cell activation; social behavior; regulation of dopamine metabolic process; membrane depolarization; 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; response to cocaine; regulation of circadian sleep/wake cycle, REM sleep; regulation of circadian sleep/wake cycle, non-REM sleep; response to ethanol; negative regulation of action potential; regulation of dendrite morphogenesis; neurological system process; cognition; regulation of synapse assembly; synaptic transmission involved in micturition; calcium ion transport; lateral geniculate nucleus development; central nervous system projection neuron axonogenesis; conditioned taste aversion; response to hypoxia; ion transport; cation transport; smooth muscle contraction; signal transduction; synaptic transmission; synaptic transmis | 1q21.3 |
| CHRNB3 | synaptic transmission, cholinergic; ion transport; synaptic transmission; transport; signal transduction | 8p11.2 |
| CHRNB4 | regulation of neurotransmitter secretion; synaptic transmission involved in micturition; behavioral response to nicotine; locomotory behavior; synaptic transmission, cholinergic; synaptic transmission; signal transduction; regulation of smooth muscle contraction; ion transport; regulation of action potential | 15q24 |
| CHRND | transport; cation transport; muscle contraction; signal transduction; synaptic transmission; ion transmembrane transport; regulation of membrane potential; skeletal muscle tissue growth; musculoskeletal movement; neuromuscular process | 2q37.1 |
| CHRNE | transport; cation transport; muscle contraction; signal transduction; synaptic transmission; synaptic transmission, cholinergic; regulation of membrane potential | 17p13.2 |
| CHST1 | polysaccharide metabolic process; keratan sulfate metabolic process; galactose metabolic process; inflammatory response; sulfur compound metabolic process | 11p11.2 |
| CHST10 | cell adhesion; learning; long-term memory; carbohydrate biosynthetic process; metabolic process | 2q11.2 |
| CHST11 | polysaccharide localization; chondrocyte development; cartilage development; embryonic skeletal system morphogenesis; embryonic viscerocranium morphogenesis; respiratory gaseous exchange; developmental growth; tail morphogenesis; post-embryonic development; carbohydrate biosynthetic process; chondroitin sulfate biosynthetic process; negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of apoptotic process; embryonic digit 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 | carbohydrate biosynthetic process; dermatan sulfate proteoglycan metabolic process | 15q15.1 |
| CHST15 | hexose biosynthetic process | 10q26 |
| CHST2 | metabolic process; multicellular organismal development; inflammatory response; sulfur compound metabolic process; N-acetylglucosamine metabolic process; carbohydrate metabolic process | 3q24 |
| CHST3 | chondroitin sulfate biosynthetic process; T cell homeostasis; positive regulation of cellular component movement; carbohydrate metabolic process; sulfur compound metabolic process; peripheral nervous system axon regeneration | 10q22.1 |
| CHST4 | cellular component movement; protein sulfation; N-acetylglucosamine metabolic process; carbohydrate metabolic process; sulfur compound metabolic process; inflammatory response; immune response; cell adhesion; cell-cell signaling | 16q22.2 |
| CHST5 | sulfur compound metabolic process; protein sulfation; N-acetylglucosamine metabolic process; carbohydrate metabolic process | 16q22.3 |
| CHST6 | sulfur compound metabolic process; N-acetylglucosamine metabolic process; carbohydrate metabolic process; keratan sulfate biosynthetic process | 16q22 |
| CHST7 | N-acetylglucosamine metabolic process; polysaccharide metabolic process; sulfur compound metabolic process; chondroitin sulfate biosynthetic process | Xp11.23 |
| CHST8 | hormone biosynthetic process; proteoglycan biosynthetic process; carbohydrate biosynthetic process; sulfur compound metabolic process; central nervous system development | 19q13.1 |
| CHST9 | hormone biosynthetic process; glycosaminoglycan metabolic process; proteoglycan biosynthetic 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 | DNA replication; cell cycle | 16q22.1 |
| CHTOP | regulation of transcription, DNA-dependent | 1q21.3 |
| CHUK | 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; odontogenesis of dentin-containing tooth; positive regulation of I-kappaB kinase/NF-kappaB cascade; 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; mammary gland alveolus development; nucleotide-binding oligomerization domain containing signaling pathway; I-kappaB phosphorylation; osteoclast differentiation; morphogenesis of an epithelial sheet; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; protein phosphorylation; inflammatory response; immune response; | 10q24-q25 |
| CHURC1 | positive regulation of transcription, DNA-dependent; multicellular organismal development | 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 | endomitotic cell cycle; cell adhesion; negative regulation of cell proliferation; response to DNA damage stimulus; apoptotic process; double-strand break repair | 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 lipid catabolic process; negative regulation of cytokine secretion; negative regulation of apoptotic process; negative regulation of tumor necrosis factor production; negative regulation of transforming growth factor beta receptor signaling pathway; lipid storage; DNA damage response, signal transduction resulting in induction of apoptosis; cell death; apoptotic process; lipid metabolic process; DNA fragmentation involved in apoptotic nuclear change; temperature homeostasis; positive regulation of sequestering of triglyceride | 18p11.21|18 |
| CIDEB | DNA damage response, signal transduction resulting in induction of apoptosis; induction of apoptosis; apoptotic process | 14q12 |
| CIDEC | induction of apoptosis; apoptotic process | 3p25.3 |
| CIDECP | - | 3p25.3 |
| CIITA | negative regulation of transcription, DNA-dependent; cytokine-mediated signaling pathway; positive regulation of MHC class II biosynthetic process; positive regulation of MHC class I biosynthetic process; response to interferon-gamma; negative regulation of collagen biosynthetic process; immune response; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; response to antibiotic; interferon-gamma-mediated signaling pathway | 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 | regulation of transcription, DNA-dependent; mRNA processing; RNA splicing; negative regulation of transcription, DNA-dependent | 2q31.1 |
| CIR1P2 | - | 4q26 |
| CIRBP | response to UV; response to cold; 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; regulation of autophagy; multicellular organismal aging | 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 | apoptotic process; response to interleukin-2; response to interleukin-1; SMAD protein signal transduction; mesenchymal to epithelial transition; response to cAMP; response to estrogen stimulus; negative regulation of osteoblast differentiation; positive regulation of anti-apoptosis; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; multicellular organismal development; response to interleukin-4; negative regulation of Wnt receptor signaling pathway; cell differentiation; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; positive regulation of gene expression; cell proliferation; melanocyte differentiation; placenta development; branching involved in ureteric bud morphogenesis; positive regulation of transforming growth factor beta receptor signaling pathway; response to lipopolysaccharide; response to insulin stimulus; transforming growth factor beta receptor signaling pathway; metanephros developmen | Xq13.1 |
| CITED2 | leukocyte differentiation; heart looping; positive regulation of transcription from RNA polymerase II promoter; hemopoietic progenitor cell differentiation; lens morphogenesis in camera-type eye; embryonic placenta development; liver development; neural tube closure; negative regulation of transcription from RNA polymerase II promoter; blood vessel development; vasculogenesis; response to hypoxia; trophectodermal cell differentiation; neural tube formation; adrenal gland development; cranial nerve morphogenesis; positive regulation of cell-cell adhesion; pulmonary artery morphogenesis; cardiac septum morphogenesis; bone morphogenesis; embryonic process involved in female pregnancy; erythrocyte development; embryonic camera-type eye morphogenesis; thymus development; decidualization; regulation of organ formation; negative regulation of cell migration; positive regulation of transforming growth factor beta receptor signaling pathway; granulocyte differentiation; response to fluid shear stress; positive regulat | 6q23.3 |
| CITED4 | positive regulation of transcription, DNA-dependent; response to estrogen stimulus | 1p34.2|1p35-p34 |
| CIZ1 | positive regulation of DNA-dependent DNA replication initiation | 9q34.1 |
| CKAP2 | positive regulation of transcription from RNA polymerase II promoter; cell cycle; cytokinesis after mitosis; apoptotic process | 13q14 |
| CKAP2L | - | 2q13 |
| CKAP4 | - | 12q23.3 |
| CKAP5 | G2/M transition of mitotic cell cycle; RNA transport; establishment or maintenance of microtubule cytoskeleton polarity; spindle organization; mitotic cell cycle; M phase of mitotic cell cycle; mitotic prometaphase; centrosome organization; cell division | 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 | secretion by cell; neutrophil chemotaxis; cell proliferation; chemotaxis; macrophage chemotaxis; lymphocyte chemotaxis | 16q21 |
| CKMT1A | creatine metabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 15q15 |
| CKMT1B | - | 15q15 |
| CKMT2 | creatine metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; muscle contraction | 5q13.3 |
| CKMT2-AS1 | - | 5q14.1 |
| CKS1B | S phase of mitotic cell cycle; mitotic cell cycle; cell cycle; cell proliferation; cell division; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity | 1q21.2 |
| CKS1BP3 | - | 5q12.2 |
| CKS1BP6 | - | Xp21.2 |
| CKS1BP7 | - | 8q21.13 |
| CKS2 | cell division; cell proliferation; regulation of cyclin-dependent protein kinase activity; cell cycle; spindle organization; meiosis I; phosphatidylinositol-mediated signaling | 9q22 |
| CLASP1 | G2/M transition of mitotic cell cycle; microtubule organizing center organization; exit from mitosis; cell division; microtubule anchoring; axon guidance; establishment or maintenance of cell polarity; negative regulation of microtubule depolymerization; microtubule nucleation; microtubule bundle formation; mitotic cell cycle; mitotic prometaphase; microtubule cytoskeleton organization; M phase of mitotic cell cycle; negative regulation of microtubule polymerization or depolymerization | 2q14.2-q14.3 |
| CLASP2 | regulation of microtubule-based process; microtubule anchoring; cell division; M phase of mitotic cell cycle; microtubule organizing center organization; axon guidance; establishment or maintenance of cell polarity; negative regulation of microtubule depolymerization; microtubule nucleation; mitotic prometaphase; regulation of microtubule polymerization or depolymerization; mitotic cell cycle | 3p22.3 |
| CLASRP | RNA splicing; mRNA processing | 19q13.3 |
| CLC | lipid catabolic process; multicellular organismal development | 19q13.1 |
| CLCA1 | cellular response to hypoxia; chloride transport; calcium ion transport; ion transport; transport | 1p22.3 |
| CLCA2 | cell adhesion; transport; chloride transport; ion transmembrane transport | 1p22.3 |
| CLCA3P | ion transport; transport | 1p31-p22 |
| CLCA4 | chloride transport; transport | 1p31-p22 |
| CLCC1 | - | 1p13.3 |
| CLCF1 | positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of immunoglobulin production; negative regulation of neuron apoptosis; positive regulation of isotype switching to IgE isotypes; positive regulation of astrocyte differentiation; negative regulation of apoptotic process; positive regulation of B cell proliferation; B cell differentiation; cytokine-mediated signaling pathway; positive regulation of cell proliferation; JAK-STAT cascade; cell surface receptor signaling pathway | 11q13.3 |
| CLCN1 | transmembrane transport; neuronal action potential propagation; muscle contraction; chloride transport; ion transport; transport | 7q35 |
| CLCN2 | retina development in camera-type eye; transmembrane transport; regulation of anion transport; lung development; ion transport; transport; cell differentiation involved in salivary gland development | 3q27-q28 |
| CLCN3 | transport; ion transport; chloride transport; regulation of pH; endosomal lumen acidification; transmembrane 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 | transmembrane transport; ion transport; chloride transport; cell volume homeostasis; signal transduction | 1p36 |
| CLCN7 | ion transport; chloride transport; response to pH; transmembrane transport; transport | 16p13 |
| CLCNKA | transport; ion transport; chloride transport; excretion; transmembrane transport | 1p36 |
| CLCNKB | transmembrane transport; excretion; chloride transport; ion transport; transport | 1p36 |
| CLCP2 | - | 13q34 |
| CLDN1 | cell adhesion; interspecies interaction between organisms; calcium-independent cell-cell adhesion | 3q28-q29 |
| CLDN10 | calcium-independent cell-cell adhesion; cell adhesion | 13q31-q34 |
| CLDN10-AS1 | - | - |
| CLDN11 | calcium-independent cell-cell adhesion; cell adhesion; axon ensheathment; spermatogenesis | 3q26.2-q26.3 |
| CLDN12 | calcium-independent cell-cell adhesion; cell junction assembly; cell-cell junction organization; tight junction assembly | 7q21 |
| CLDN14 | tight junction assembly; cell-cell junction organization; cell junction assembly; calcium-independent cell-cell adhesion; protein complex assembly | 21q22.3 |
| CLDN15 | tight junction assembly; cell-cell junction organization; cell junction assembly; calcium-independent cell-cell adhesion | 7q11.22 |
| CLDN16 | cellular metal ion homeostasis; ion transport; excretion; magnesium ion transport; calcium-independent cell-cell adhesion | 3q28 |
| CLDN19 | calcium-independent cell-cell adhesion; neuronal action potential propagation; apical junction assembly; response to stimulus; visual perception | 1p34.2 |
| CLDN2 | calcium-independent cell-cell adhesion | Xq22.3-q23 |
| CLDN20 | tight junction assembly; cell-cell junction organization; calcium-independent cell-cell adhesion; cell junction assembly | 6q25 |
| CLDN22 | calcium-independent cell-cell adhesion; cell junction assembly; cell-cell junction organization; tight junction assembly | 4q35.1 |
| CLDN23 | calcium-independent cell-cell adhesion; cell junction assembly; cell-cell junction organization; tight junction assembly | 8p23.1 |
| CLDN24 | - | 4q35.1 |
| CLDN3 | response to hypoxia; calcium-independent cell-cell adhesion | 7q11.23 |
| CLDN34 | - | Xp22.2 |
| CLDN4 | response to progesterone stimulus; calcium-independent cell-cell adhesion; female pregnancy | 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 | bone mineralization; skeletal system development; ossification; positive regulation of plasminogen activation; cellular response to organic substance; cellular response to transforming growth factor beta stimulus | 3p22-p21.3 |
| CLEC4A | innate immune response; cell surface receptor signaling pathway; cell adhesion | 12p13 |
| CLEC4C | innate immune response | 12p13.2-p12.3 |
| CLEC4D | innate immune response | 12p13.31 |
| CLEC4E | immune response; positive regulation of cytokine secretion | 12p13.31 |
| CLEC4F | endocytosis | 2p13.3 |
| CLEC4G | - | 19p13.2 |
| CLEC4GP1 | - | 19p13.2 |
| CLEC4M | leukocyte cell-cell adhesion; interspecies interaction between organisms; cell-cell recognition; viral genome replication; virion attachment to host cell surface receptor; endocytosis; antigen processing and presentation; intracellular signal transduction; virus-host interaction; innate immune response; peptide antigen transport; intracellular virion transport | 19p13 |
| CLEC5A | response to virus; interspecies interaction between organisms; signal transduction; cellular defense response; anti-apoptosis; osteoblast development; innate immune response | 7q33 |
| CLEC7A | positive regulation of tumor necrosis factor production; cell recognition; carbohydrate mediated signaling; cell-cell adhesion; innate immune response; phagocytosis, engulfment; T cell activation; defense response to protozoan; positive regulation of phagocytosis; detection of yeast; pattern recognition receptor signaling pathway; inflammatory response; response to molecule of fungal origin; cell surface pattern recognition receptor signaling pathway; phagocytosis, recognition | 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; transport; ion transport; chloride transport | Xq28 |
| CLIC3 | signal transduction; chloride transport; ion transport | 9q34.3 |
| CLIC4 | ion transport; cellular response to calcium ion; regulation of cytoskeleton organization; establishment or maintenance of apical/basal cell polarity; chloride transport; negative regulation of cell migration; keratinocyte differentiation; cell differentiation | 1p36.11 |
| CLIC5 | auditory receptor cell stereocilium organization; ion transport; transport; neuromuscular process controlling balance; chloride transport; female pregnancy; sensory perception of sound; protein localization | 6p12.3 |
| CLIC6 | ion transport | 21q22.12 |
| CLINT1 | post-Golgi vesicle-mediated transport; endocytosis; cellular membrane organization | 5q33.3 |
| CLIP1 | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; microtubule bundle formation; mitosis; transport; positive regulation of microtubule polymerization | 12q24.3 |
| CLIP2 | - | 7q11.23 |
| CLIP3 | negative regulation of microtubule polymerization; positive regulation of protein phosphorylation; peptidyl-L-cysteine S-palmitoylation; positive regulation of apoptotic process; membrane biogenesis; fat cell differentiation; positive regulation of endocytosis; chaperone-mediated protein transport; positive regulation of establishment of protein localization in plasma membrane; positive regulation of glucose transport | 19q13.12 |
| CLIP4 | - | 2p23.2 |
| CLK1 | cell proliferation; peptidyl-serine phosphorylation; peptidyl-threonine phosphorylation; peptidyl-tyrosine phosphorylation; regulation of RNA splicing; protein autophosphorylation | 2q33 |
| CLK2 | negative regulation of gluconeogenesis; protein phosphorylation; response to ionizing radiation; regulation of RNA splicing; protein autophosphorylation | 1q21 |
| CLK2P1 | - | 7p15.3 |
| CLK3 | protein phosphorylation; peptidyl-tyrosine phosphorylation; regulation of RNA splicing; protein autophosphorylation | 15q24 |
| CLK4 | protein autophosphorylation; regulation of RNA splicing; peptidyl-tyrosine phosphorylation | 5q35 |
| CLLU1 | - | 12q22 |
| CLLU1OS | - | 12q22 |
| CLMN | - | 14q32.13 |
| CLMP | - | 11q24.1 |
| CLN3 | associative learning; cell death; lysosomal lumen acidification; lysosome organization; vacuolar transport; receptor-mediated endocytosis; amino acid transport; negative regulation of proteolysis; sphingomyelin metabolic process; arginine transport; 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; glucosylceramide metabolic process; ceramide metabolic process; cellular amino acid metabolic process; protein folding; globoside metabolic process; regulation of action potential; autophagic vacuole fusion; neuromuscular process controlling balance; cytosolic calcium ion homeostasis; galactosylceramide metabolic process | 16p12.1 |
| CLN5 | lysosomal lumen acidification; brain development; visual perception; cell death; neurogenesis; protein catabolic process; neuron maturation; lysosome organization | 13q21.1-q32 |
| CLN6 | lysosome organization; positive regulation of proteolysis; cellular macromolecule catabolic process; locomotion involved in locomotory behavior; glycosaminoglycan metabolic process; protein catabolic process; cell death; cholesterol metabolic process; visual perception; lysosomal lumen acidification; ganglioside metabolic process | 15q23 |
| CLN8 | retina development in camera-type eye; neurofilament cytoskeleton organization; nervous system development; glutamate uptake involved in synaptic transmission; negative regulation of transferase activity; neuromuscular process controlling balance; adult walking behavior; lysosome organization; mitochondrial membrane organization; lipid transport; ceramide metabolic process; phospholipid metabolic process; age-dependent response to oxidative stress; cholesterol metabolic process; cell death; associative learning; regulation of cell size; somatic motor neuron differentiation; protein catabolic process; social behavior; negative regulation of apoptotic process; cellular protein catabolic process; photoreceptor cell maintenance; negative regulation of proteolysis; ceramide biosynthetic process; musculoskeletal movement; neuromuscular process controlling posture; lipid biosynthetic process | 8p23 |
| CLNK | immune response; transmembrane receptor protein tyrosine kinase signaling pathway; intracellular signal transduction | 4p16.1 |
| CLNS1A | transport; ncRNA metabolic process; RNA metabolic process; gene expression; blood circulation; cell volume homeostasis; chloride transport; spliceosomal snRNP assembly | 11q13.5-q14 |
| CLOCK | cellular response to ionizing radiation; positive regulation of transcription from RNA polymerase II promoter; circadian regulation of gene expression; entrainment of circadian clock; photoperiodism; circadian rhythm; DNA damage checkpoint; regulation of transcription from RNA polymerase II promoter; signal transduction | 4q12 |
| CLP1 | termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; siRNA loading onto RISC involved in RNA interference; mRNA 3'-end processing; tRNA splicing, via endonucleolytic cleavage and ligation; mRNA processing; targeting of mRNA for destruction involved in RNA interference | 11q12 |
| CLPB | cellular response to heat | 11q13.4 |
| CLPP | proteolysis | 19p13.3 |
| CLPSL1 | digestion; lipid catabolic process | 6p21.31 |
| CLPSL2 | lipid catabolic process; digestion | 6p21.31 |
| CLPTM1 | regulation of T cell differentiation in thymus; cell differentiation; multicellular organismal development | 19q13.3 |
| CLPTM1L | apoptotic process | 5p15.33 |
| CLPX | proteolysis involved in cellular protein catabolic process; ATP catabolic process; protein folding; positive regulation of peptidase activity | 15q22.31 |
| CLRN1 | equilibrioception; sensory perception of light stimulus; response to stimulus; photoreceptor cell maintenance; sensory perception of sound | 3q25 |
| CLRN3 | - | 10q26.2 |
| CLSPN | DNA repair; G2/M transition DNA damage checkpoint; activation of protein kinase activity; DNA replication; DNA damage checkpoint; mitotic cell cycle DNA replication checkpoint; cell cycle checkpoint; apoptotic process; cellular component disassembly involved in apoptosis; cell cycle; peptidyl-serine phosphorylation | 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 | endocytosis; epidermal growth factor receptor signaling pathway; cellular membrane organization; axon guidance; intracellular protein transport; negative regulation of epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; post-Golgi vesicle-mediated transport | 9p13 |
| CLTB | vesicle-mediated transport; intracellular protein transport | 5q35 |
| CLTC | vesicle-mediated transport; cellular membrane organization; axon guidance; transferrin transport; epidermal growth factor receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; receptor internalization; mitosis; receptor-mediated endocytosis; post-Golgi vesicle-mediated transport; intracellular protein transport; nerve growth factor receptor signaling pathway | 17q11-qter |
| CLTC-IT1 | - | 17q23.2 |
| CLTCL1 | receptor-mediated endocytosis; intracellular protein transport; signal transduction; anatomical structure morphogenesis; vesicle-mediated transport; mitosis; positive regulation of glucose import | 22q11.21 |
| CLU | blood coagulation; positive regulation of cell proliferation; cell death; platelet activation; induction of apoptosis by intracellular signals; response to wounding; response to virus; chaperone-mediated protein folding; response to oxidative stress; complement activation, classical pathway; complement activation; anti-apoptosis; lipid metabolic process; release of cytochrome c from mitochondria; platelet degranulation; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; 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; response to misfolded protein; positive regulation of NF-kappaB transcription factor activity; protein stabilization; neuron projection morphogenesis; positive regulation of cell differentiation; innate immune response; reverse cholesterol transport; negative regulation of apoptotic process; positive regu | 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 | interleukin-1 beta biosynthetic process; proteolysis; regulation of inflammatory response | 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; G-protein coupled receptor signaling pathway; immune response; chemotaxis; skeletal system development; regulation of calcium-mediated signaling; negative regulation of interleukin-12 production; negative regulation of NF-kappaB transcription factor activity | 12q24.1 |
| CMPK1 | UMP biosynthetic process; pyrimidine ribonucleotide biosynthetic process; nucleobase-containing small molecule interconversion; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 1p32 |
| CMPK2 | dTDP biosynthetic process; pyrimidine nucleotide 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 | cholesterol biosynthetic process; regulation of transcription, DNA-dependent; positive regulation of cell proliferation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 3q21 |
| CNDP1 | proteolysis; metabolic process | 18q22.3 |
| CNDP2 | cellular nitrogen compound metabolic process; small molecule metabolic process; xenobiotic metabolic process; glutathione biosynthetic process; proteolysis; sulfur amino acid metabolic process | 18q22.3 |
| CNEP1R1 | positive regulation of triglyceride biosynthetic process; lipid metabolic process; positive regulation of protein dephosphorylation; protein localization to nucleus | 16q12.1 |
| CNFN | keratinization | 19q13.2 |
| CNGA1 | transport; ion transport; visual perception; response to stimulus; transmembrane transport | 4p12 |
| CNGA2 | response to stimulus; ion transmembrane transport; sensory perception of smell | Xq27 |
| CNGA3 | transport; ion transport; cation transport; signal transduction; visual perception; ion transmembrane transport; retinal cone cell development; response to stimulus; transmembrane transport | 2q11.2 |
| CNGA4 | transmembrane transport; ion transport; sensory perception of smell; response to stimulus | 11p15.4 |
| CNGB1 | visual perception; photoreceptor cell maintenance; ion transport; transport; phototransduction; sensory perception of smell; response to stimulus | 16q13 |
| CNGB3 | transport; cation transport; signal transduction; visual perception; ion transmembrane transport; response to stimulus | 8q21.3 |
| CNIH1 | intracellular signal transduction; vesicle-mediated transport; signal transduction; immune response | 14q22.2 |
| CNIH2 | synaptic transmission, glutamatergic; intracellular signal transduction; regulation of membrane potential; localization within membrane; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity | 11q13.2 |
| CNIH3 | intracellular signal transduction; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity | 1q42.12 |
| CNIH4 | intracellular signal transduction | 1q42.11 |
| CNKSR1 | Ras protein signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; Rho protein signal transduction | 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 | actomyosin structure organization; regulation of smooth muscle contraction | 19p13.2-p13.1 |
| CNN2 | actomyosin structure organization; cellular response to mechanical stimulus; negative regulation of cell migration; regulation of actin filament-based process; wound healing; regulation of cell proliferation; negative regulation of phagocytosis; hemopoiesis; positive regulation of gene expression; cytoskeleton organization | 19p13.3 |
| CNN2P1 | - | 22q12.2 |
| CNN2P12 | - | 13q11 |
| CNN2P6 | - | 3p23 |
| CNN2P9 | - | 6q21 |
| CNN3 | smooth muscle contraction; actomyosin structure organization; 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 | response to stimulus; ion transport; biomineral tissue development; visual perception | 2q11 |
| CNOT1 | nuclear-transcribed mRNA poly(A) tail shortening; regulation of transcription, DNA-dependent; gene expression; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; RNA metabolic process | 16q21 |
| CNOT10 | mRNA metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; RNA metabolic process; gene expression; nuclear-transcribed mRNA poly(A) tail shortening | 3p22.3 |
| CNOT10-AS1 | - | - |
| CNOT11 | - | 2q11.2 |
| CNOT2 | mRNA metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA poly(A) tail shortening; regulation of transcription from RNA polymerase II promoter; gene expression; RNA metabolic process | 12q15 |
| CNOT3 | nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; regulation of transcription, DNA-dependent; gene expression; mRNA metabolic process; RNA metabolic process | 19q13.4 |
| CNOT4 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA poly(A) tail shortening; regulation of transcription, DNA-dependent; gene expression; RNA metabolic process; protein autoubiquitination; mRNA metabolic process | 7q22-qter |
| CNOT6 | regulation of transcription, DNA-dependent; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; RNA metabolic process; mRNA metabolic process | 5q35.3 |
| CNOT6L | mRNA metabolic process; RNA metabolic process; gene expression; mRNA processing; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 4q13.3 |
| CNOT6LP1 | - | 15q21.3 |
| CNOT7 | carbohydrate metabolic process; regulation of transcription, DNA-dependent; signal transduction; positive regulation of transcription from RNA polymerase II promoter; mRNA metabolic process; gene expression; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; RNA metabolic process | 8p22-p21.3 |
| CNOT7P2 | - | 1p13.1 |
| CNOT8 | regulation of transcription, DNA-dependent; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA poly(A) tail shortening; RNA metabolic process; gene expression; negative regulation of cell proliferation | 5q31-q33 |
| CNP | RNA metabolic process; synaptic transmission; axonogenesis; adult locomotory behavior; cyclic nucleotide catabolic process; response to toxin; microtubule cytoskeleton organization | 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 | behavior; response to nutrient; aging; positive regulation of fever generation; spermatogenesis; memory; positive regulation of neuron projection development; regulation of lipid metabolic process; sensory perception of pain; G-protein signaling, coupled to cyclic nucleotide second messenger; regulation of penile erection; regulation of feeding behavior; maternal process involved in female pregnancy; regulation of synaptic transmission, glutamatergic; negative regulation of nitric-oxide synthase activity; regulation of insulin secretion; positive regulation of blood pressure; negative regulation of blood pressure; negative regulation of action potential; response to ethanol; response to morphine; negative regulation of ion transport; positive regulation of apoptotic process; response to cocaine; response to nicotine; negative regulation of dopamine secretion; negative regulation of mast cell activation; response to lipopolysaccharide; regulation of synaptic transmission, GABAergic; negative regulation of fatt | 6q14-q15 |
| CNR2 | response to amphetamine; immune response; G-protein signaling, coupled to cyclic nucleotide second messenger; 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; behavior | 1p36.11 |
| CNRIP1 | - | 2p14 |
| CNST | positive regulation of Golgi to plasma membrane protein transport; negative regulation of phosphatase activity | 1q44 |
| CNTD1 | - | 17q21.31 |
| CNTD2 | - | 19q13.2 |
| CNTFR | signal transduction; ciliary neurotrophic factor-mediated signaling pathway; skeletal muscle organ development; negative regulation of neuron apoptosis; positive regulation of cell proliferation; sex differentiation; nervous system development; brainstem development; suckling behavior | 9p13 |
| CNTLN | - | 9p22.2 |
| CNTN1 | cell adhesion; Notch signaling pathway; axon guidance | 12q11-q12 |
| CNTN2 | regulation of axon diameter; cell-matrix adhesion; neuron migration; learning; adult walking behavior; regulation of cell morphogenesis involved in differentiation; positive regulation of protein processing; central nervous system myelination; cerebral cortex GABAergic interneuron migration; neuron projection development; receptor internalization; cellular protein localization; clustering of voltage-gated potassium channels; negative regulation of neuron differentiation; regulation of neuronal synaptic plasticity; regulation of astrocyte differentiation; positive regulation of adenosine receptor signaling pathway; establishment of protein localization to juxtaparanode region of axon; cell adhesion; microtubule cytoskeleton organization; axon guidance; axonal fasciculation | 1q32.1 |
| CNTN3 | nervous system development; cell adhesion | 3p12.3 |
| CNTN4 | axonal fasciculation; axonogenesis; nervous system development; neuron cell-cell adhesion; cell adhesion; regulation of synaptic plasticity; negative regulation of neuron differentiation; neuron projection development; brain development; axon guidance | 3p26.3 |
| CNTN4-AS2 | - | - |
| CNTN5 | cell adhesion | 11q22.1 |
| CNTN6 | cell adhesion; Notch signaling pathway; central nervous system development; axon guidance | 3p26-p25 |
| CNTNAP1 | neuromuscular process controlling balance; neuromuscular process controlling posture; neuron projection morphogenesis; paranodal junction assembly; axon cargo transport; axon guidance; signal transduction; cell adhesion; cytoskeleton organization; protein localization to paranode region of axon | 17q21 |
| CNTNAP2 | cell adhesion; signal transduction; behavior; brain development; protein localization to juxtaparanode region of axon; thalamus development; limbic system development; cerebral cortex development; neuron projection development; cellular protein localization; clustering of voltage-gated potassium channels; superior temporal gyrus development; vocalization behavior; striatum development; neuron recognition; transmission of nerve impulse | 7q35 |
| CNTNAP3 | cell adhesion; cell recognition; signal transduction | 9p13.1 |
| CNTNAP4 | cell adhesion; signal transduction | 16q23.1 |
| CNTNAP5 | signal transduction; cell adhesion | 2q14.3 |
| CNTRL | G2/M transition of mitotic cell cycle; cell division; mitotic cell cycle | 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 | small molecule metabolic process; coenzyme A biosynthetic process; vitamin metabolic process; water-soluble vitamin metabolic process; pantothenate metabolic process; biosynthetic process; coenzyme biosynthetic process | 17q12-q21 |
| COBL | neural tube closure | 7p12.1 |
| COBLL1 | - | 2q24.3 |
| COCH | sensory perception of sound | 14q11.2-q13 |
| COG1 | protein transport; Golgi organization; intra-Golgi vesicle-mediated transport | 17q25.1 |
| COG2 | protein glycosylation; intracellular protein transport; protein transport; intra-Golgi vesicle-mediated transport; Golgi organization; oligosaccharide biosynthetic process | 1q42.2 |
| COG3 | retrograde vesicle-mediated transport, Golgi to ER; protein glycosylation; protein transport; protein stabilization; protein localization to organelle; intra-Golgi vesicle-mediated transport; ER to Golgi vesicle-mediated transport; intracellular protein transport | 13q14.13 |
| COG4 | retrograde vesicle-mediated transport, Golgi to ER; Golgi organization; protein transport; Golgi vesicle prefusion complex stabilization | 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; intracellular protein transport; protein glycosylation; protein localization to organelle; protein localization in Golgi apparatus | 16p12.2 |
| COG8 | protein transport | 16q22.1 |
| COIL | oxidation-reduction process | 17q22 |
| COL10A1 | skeletal system development | 6q21-q22 |
| COL11A1 | cartilage condensation; extracellular matrix organization; ventricular cardiac muscle tissue morphogenesis; detection of mechanical stimulus involved in sensory perception of sound; embryonic skeletal system morphogenesis; cell adhesion; visual perception; proteoglycan metabolic process; heart morphogenesis; chondrocyte development; ossification; collagen fibril organization; inner ear morphogenesis; sensory perception of sound | 1p21 |
| COL11A2 | cell adhesion; soft palate development; palate development; cartilage development; collagen fibril organization; sensory perception of sound; skeletal system development | 6p21.3 |
| COL11A2P1 | - | 6p21.32 |
| COL12A1 | skeletal system development; cell adhesion; collagen fibril organization | 6q12-q13 |
| COL13A1 | ossification; morphogenesis of a branching structure; endochondral ossification; cell-matrix adhesion; multicellular organismal development; cell-cell adhesion; cell differentiation | 10q22 |
| COL14A1 | extracellular matrix organization; cell-cell adhesion; collagen fibril organization | 8q23 |
| COL15A1 | signal transduction; cell adhesion; multicellular organismal development; cell differentiation; angiogenesis | 9q21-q22 |
| COL16A1 | cell adhesion; integrin-mediated signaling pathway; female pregnancy; cellular response to amino acid stimulus | 1p35-p34 |
| COL17A1 | hemidesmosome assembly; cell junction assembly; epidermis development; cell-matrix adhesion | 10q24.3 |
| COL18A1 | visual perception; cell adhesion; negative regulation of cell proliferation; organ morphogenesis | 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 | protein localization to nucleus; collagen biosynthetic process; platelet activation; response to corticosteroid stimulus; positive regulation of cell migration; collagen fibril organization; positive regulation of canonical Wnt receptor signaling pathway; tooth mineralization; response to hydrogen peroxide; response to peptide hormone stimulus; skin morphogenesis; positive regulation of transcription, DNA-dependent; embryonic skeletal system development; 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; negative regulation of cell-substrate adhesion; skeletal system development; blood vessel development; osteoblast differentiation; intramembranous ossification; endochondral ossification; axon guidance; response to nutr | 17q21.33 |
| COL1A2 | skeletal system development; blood vessel development; transforming growth factor beta receptor signaling pathway; Rho protein signal transduction; 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 | heart morphogenesis; chondrocyte differentiation; notochord development; endochondral ossification; proteoglycan metabolic process; axon guidance; central nervous system development; visual perception; sensory perception of sound; regulation of gene expression; collagen fibril organization; inner ear morphogenesis; tissue homeostasis; ossification; cartilage condensation; skeletal system development; otic vesicle development; 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 | 12q13.11 |
| COL3A1 | platelet activation; 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; 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; skeletal system development | 2q31 |
| COL4A1 | axon guidance; angiogenesis; neuromuscular junction development; epithelial cell differentiation; cellular response to amino acid stimulus | 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 | activation of cysteine-type endopeptidase activity involved in apoptotic process; glomerular basement membrane development; induction of apoptosis; cell adhesion; cell surface receptor signaling pathway; axon guidance; sensory perception of sound; blood circulation; cell proliferation; negative regulation of cell proliferation; response to glucose stimulus; negative regulation of angiogenesis | 2q36-q37 |
| COL4A3BP | cell proliferation; transport; sphingolipid biosynthetic process; ceramide metabolic process; sphingolipid metabolic process; response to endoplasmic reticulum stress; protein phosphorylation; ER to Golgi ceramide transport; small molecule metabolic process; lipid homeostasis; mitochondrion morphogenesis; lipid transport; heart morphogenesis; in utero embryonic development; cell morphogenesis; muscle contraction; immune response; endoplasmic reticulum organization; signal transduction | 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 | cell migration; blood vessel development; heart morphogenesis; cell adhesion; axon guidance; collagen fibril organization; collagen biosynthetic process; wound healing, spreading of epidermal cells; fibril organization; skin development; integrin biosynthetic process; eye morphogenesis; regulation of cellular component organization | 9q34.2-q34.3 |
| COL5A1-AS1 | - | 9q34.3 |
| COL5A2 | collagen fibril organization; axon guidance; skeletal system development; skin development; eye morphogenesis; cellular response to amino acid stimulus | 2q14-q32 |
| COL5A3 | collagen fibril organization; skin development; cell adhesion; cell-matrix adhesion | 19p13.2 |
| COL6A1 | cell adhesion; axon guidance; protein heterotrimerization; cellular response to amino acid stimulus | 21q22.3 |
| COL6A2 | response to glucose stimulus; protein heterotrimerization; extracellular matrix organization; cell-cell adhesion; 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 | positive regulation of cell-substrate adhesion; angiogenesis; cell adhesion; camera-type eye morphogenesis; epithelial cell proliferation | 3q12.3 |
| COL8A2 | epithelial cell proliferation; camera-type eye morphogenesis; extracellular matrix organization; cell-cell adhesion; angiogenesis | 1p34.2 |
| COL9A1 | organ morphogenesis; axon guidance; cell adhesion; growth plate cartilage development; chondrocyte differentiation; tissue homeostasis | 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; pattern recognition receptor signaling pathway; phagocytosis, recognition; defense response; carbohydrate mediated signaling; protein homooligomerization | 18pter-p11.3 |
| COLGALT1 | - | 19p13.11 |
| COLGALT2 | - | 1q25 |
| COLQ | neurotransmitter catabolic process; acetylcholine catabolic process in synaptic cleft; asymmetric protein localization | 3p25 |
| COMMD1 | positive regulation of protein ubiquitination; negative regulation of NF-kappaB transcription factor activity; regulation of proteasomal ubiquitin-dependent protein catabolic process; copper ion homeostasis | 2p15 |
| COMMD10 | - | 5q23.1 |
| COMMD2 | - | 3q25.1 |
| COMMD3 | - | 10p12.2 |
| COMMD4 | - | 15q24.2 |
| COMMD5 | cell cycle arrest | 8q24.3 |
| COMMD6 | - | 13q22 |
| COMMD7 | negative regulation of NF-kappaB transcription factor activity; tumor necrosis factor-mediated signaling pathway; negative regulation of transcription, DNA-dependent | 20q11.21 |
| COMMD8 | - | 4p12 |
| COMMD9 | - | 11p13 |
| COMP | anti-apoptosis; skeletal system development; growth plate cartilage development; apoptotic process; cell adhesion; organ morphogenesis; limb development | 19p13.1 |
| COMT | response to pain; xenobiotic metabolic process; synaptic transmission; female pregnancy; learning; estrogen metabolic process; response to organic cyclic compound; methylation; response to lipopolysaccharide; neurotransmitter catabolic process; neurotransmitter biosynthetic process; dopamine catabolic process; response to drug; small molecule 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 | 22q11.21 |
| COMTD1 | - | 10q22.2 |
| COPA | vesicle-mediated transport; intracellular protein transport; retrograde vesicle-mediated transport, Golgi to ER; cellular membrane organization; pancreatic juice secretion; COPI coating of Golgi vesicle | 1q23.2 |
| COPB1 | vesicle-mediated transport; COPI coating of Golgi vesicle; interspecies interaction between organisms; cellular membrane organization; intra-Golgi vesicle-mediated transport; retrograde vesicle-mediated transport, Golgi to ER; intracellular protein transport | 11p15.2 |
| COPB2 | intra-Golgi vesicle-mediated transport; intracellular protein transport; COPI coating of Golgi vesicle; vesicle-mediated transport; cellular membrane organization; retrograde vesicle-mediated transport, Golgi to ER | 3q23 |
| COPE | intra-Golgi vesicle-mediated transport; cellular membrane organization; retrograde vesicle-mediated transport, Golgi to ER; protein transport; vesicle-mediated transport; COPI coating of Golgi vesicle | 19p13.11 |
| COPG1 | COPI coating of Golgi vesicle; vesicle-mediated transport; cellular membrane organization; retrograde vesicle-mediated transport, Golgi to ER; intracellular protein transport | 3q21.3 |
| COPG2 | intracellular protein transport; retrograde vesicle-mediated transport, Golgi to ER; vesicle-mediated transport; intra-Golgi vesicle-mediated transport | 7q32 |
| COPG2IT1 | - | 7q32 |
| COPRS | - | 17q11.2 |
| COPS2 | transcription from RNA polymerase II promoter; signal transduction; cullin deneddylation | 15q21.2 |
| COPS3 | cullin deneddylation; response to light stimulus; in utero embryonic development; signal transduction | 17p11.2 |
| COPS4 | cullin deneddylation | 4q21.22 |
| COPS5 | proteolysis; regulation of cell cycle; regulation of JNK cascade; positive regulation of transcription from RNA polymerase II promoter; cullin deneddylation; translational initiation; translation; transcription from RNA polymerase II promoter; protein deneddylation | 8q13.1 |
| COPS5P1 | - | 6q16.1 |
| COPS6 | interspecies interaction between organisms; cullin deneddylation | 7q22.1 |
| COPS7A | cullin deneddylation | 12p13.31 |
| COPS7B | cullin deneddylation | 2q37.1 |
| COPS8 | cullin deneddylation | 2q37.3 |
| COPS8P2 | - | 3p14.1 |
| COPZ1 | intracellular protein transport; retrograde vesicle-mediated transport, Golgi to ER; intra-Golgi vesicle-mediated transport; cellular membrane organization; vesicle-mediated transport; COPI coating of Golgi vesicle | 12q13.2-q13.3 |
| COPZ2 | intracellular protein transport; vesicle-mediated transport | 17q21.32 |
| COQ10A | - | 12q13.3 |
| COQ10B | - | 2q33.1 |
| COQ2 | biosynthetic process; isoprenoid biosynthetic process; ubiquinone biosynthetic process; glycerol metabolic 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 | cellular response to oxidative stress; determination of adult lifespan; ubiquinone biosynthetic process; mitochondrion morphogenesis; mitochondrial ATP synthesis coupled electron transport; response to drug; respiratory electron transport chain; neural tube formation; in utero embryonic development; age-dependent response to oxidative stress; neurogenesis | 16p12.3 |
| COQ9 | ubiquinone biosynthetic process | 16q21 |
| CORIN | regulation of systemic arterial blood pressure by atrial natriuretic peptide; proteolysis; peptide hormone processing | 4p13-p12 |
| CORO1A | positive regulation of cell migration; cellular component movement; phagocytosis; actin filament organization; calcium ion transport; phagolysosome assembly; regulation of cell shape; actin cytoskeleton organization; homeostasis of number of cells within a tissue; leukocyte chemotaxis; regulation of actin filament polymerization; cell-substrate adhesion; uropod organization; response to cytokine stimulus; positive regulation of T cell proliferation; T cell homeostasis; innate immune response; negative regulation of actin nucleation; positive chemotaxis | 16p11.2 |
| CORO1B | actin cytoskeleton organization | 11q13.2 |
| CORO1C | actin cytoskeleton organization; signal transduction; phagocytosis | 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 | aerobic respiration; cytochrome complex assembly; respiratory chain complex IV assembly; heme a biosynthetic process; mitochondrial electron transport, cytochrome c to oxygen; mitochondrial fission; cellular respiration; heme O biosynthetic process | 17p12 |
| COX10-AS1 | - | - |
| COX11 | respiratory gaseous exchange; respiratory chain complex IV assembly | 17q22 |
| COX11P1 | - | 6p23-p22 |
| COX14 | mitochondrial respiratory chain complex IV assembly | 12q13.12 |
| COX15 | mitochondrial electron transport, cytochrome c to oxygen; heme a biosynthetic process; respiratory gaseous exchange; respiratory chain complex IV assembly; cellular respiration; oxidation-reduction process | 10q24 |
| COX16 | - | 14q24.2 |
| COX17 | copper ion transport; generation of precursor metabolites and energy; heart development; brain development | 3q13.33 |
| COX17P1 | - | 13q14.13 |
| COX18 | protein insertion into mitochondrial membrane; protein transport; respiratory chain complex IV assembly | 4q13.3 |
| COX19 | - | 7p22.3 |
| COX20 | - | 1q44 |
| COX20P2 | - | 2q37.1 |
| COX4I1 | small molecule metabolic process; respiratory electron transport chain; response to nutrient; generation of precursor metabolites and energy | 16q24.1 |
| COX4I1P2 | - | 13q14.13 |
| COX4I2 | cellular respiration; oxidation-reduction process; generation of precursor metabolites and energy | 20q11.21 |
| COX5A | small molecule metabolic process; respiratory electron transport chain | 15q24.1 |
| COX5AP1 | - | 14q22 |
| COX5AP2 | - | 14q22.1 |
| COX5B | small molecule metabolic process; respiratory gaseous exchange; respiratory electron transport chain | 2q11.2 |
| COX5BP2 | - | 6q23.3 |
| COX5BP6 | - | 13q32.3 |
| COX6A1 | generation of precursor metabolites and energy; respiratory electron transport chain; small molecule metabolic process | 12q24.2|12q24.2 |
| COX6A2 | generation of precursor metabolites and energy | 16p11.12 |
| COX6B1 | oxidation-reduction process; respiratory electron transport chain; small molecule metabolic process | 19q13.1 |
| COX6B1P2 | - | 17q21.32 |
| COX6B1P3 | - | 22q13.2 |
| COX6B1P6 | - | - |
| COX6B2 | - | 19q13.42 |
| COX6C | small molecule metabolic process; respiratory electron transport chain; generation of precursor metabolites and energy | 8q22.2 |
| COX6CP1 | - | 16p12 |
| COX6CP3 | - | 18p11.32 |
| COX6CP4 | - | 15q14 |
| COX6CP6 | - | 3p13 |
| COX7A1 | generation of precursor metabolites and energy | 19q13.1 |
| COX7A2 | - | 6q12 |
| COX7A2L | respiratory electron transport chain; small molecule metabolic process | 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 | small molecule metabolic process; generation of precursor metabolites and energy; respiratory electron transport chain | 11q12-q13 |
| CP | transmembrane transport; cellular iron ion homeostasis; copper ion transport; ion transport | 3q23-q25 |
| CPA1 | proteolysis | 7q32 |
| CPA2 | vacuolar protein catabolic process; proteolysis | 7q32 |
| CPA3 | proteolysis | 3q24 |
| CPA4 | proteolysis; histone acetylation | 7q32 |
| CPA5 | metabolic process; proteolysis | 7q32 |
| CPA6 | proteolysis | 8q13.2 |
| CPAMD8 | - | 19p13.11 |
| CPB1 | proteolysis | 3q24 |
| CPB2 | negative regulation of fibrinolysis; response to drug; response to heat; metabolic process; blood coagulation; proteolysis | 13q14.11 |
| CPB2-AS1 | - | - |
| CPD | proteolysis; cellular response to interleukin-2 | 17q11.2 |
| CPE | cardiac left ventricle morphogenesis; protein modification process; proteolysis; neuropeptide signaling pathway; metabolic process; insulin processing; protein localization in membrane | 4q32.3 |
| CPEB1 | mRNA processing; regulation of translation | 15q25.2 |
| CPEB2 | regulation of translation | 4p15.33 |
| CPEB3 | - | 10q23.32 |
| CPEB4 | - | 5q21 |
| CPED1 | - | 7q31.31 |
| CPHL1P | - | 3q25.1 |
| CPLX1 | exocytosis; synaptic transmission; neurotransmitter secretion; glutamate secretion; synaptic vesicle exocytosis; insulin secretion; transmembrane transport | 4p16.3 |
| CPLX2 | nervous system development; synaptic vesicle exocytosis; neurotransmitter transport; vesicle docking involved in exocytosis; positive regulation of synaptic plasticity; cell differentiation; mast cell degranulation | 5q35.2 |
| CPLX4 | regulation of neurotransmitter secretion; exocytosis; neurotransmitter transport | 18q21.32 |
| CPM | proteolysis; anatomical structure morphogenesis | 12q14.3 |
| CPN1 | proteolysis; response to glucocorticoid stimulus; metabolic process | 10q24.2 |
| CPN2 | regulation of catalytic activity; protein stabilization | 3q29 |
| CPNE1 | vesicle-mediated transport; lipid metabolic process | 20q11.22 |
| CPNE2 | - | 16q13 |
| CPNE3 | lipid metabolic process; vesicle-mediated transport | 8q21.3 |
| CPNE4 | - | 3q22.1 |
| CPNE5 | - | 6p21.1 |
| CPNE6 | nervous system development; vesicle-mediated transport; lipid metabolic process; synaptic transmission | 14q11.2 |
| CPNE7 | transport; lipid metabolic process | 16q24.3 |
| CPNE8 | - | 12q12 |
| CPNE9 | - | 3p25.3 |
| CPO | proteolysis | 2q33.3 |
| CPOX | response to lead ion; response to methylmercury; response to arsenic-containing substance; small molecule metabolic process; response to insecticide; response to iron ion; heme biosynthetic process; protoporphyrinogen IX biosynthetic process; porphyrin-containing compound metabolic process | 3q12 |
| CPP | - | 8q21.3 |
| CPPED1 | - | 16p13.12 |
| CPQ | tissue regeneration; proteolysis; peptide metabolic process | 8q22.2 |
| CPS1 | small molecule metabolic process; anion homeostasis; cellular response to fibroblast growth factor stimulus; positive regulation of vasodilation; nitric oxide metabolic process; response to steroid hormone stimulus; homocysteine metabolic process; response to growth hormone stimulus; hepatocyte differentiation; carbamoyl phosphate biosynthetic process; cellular response to cAMP; cellular response to glucagon stimulus; cellular response to oleic acid; response to dexamethasone stimulus; response to starvation; response to amino acid stimulus; glycogen catabolic process; glutamine catabolic process; nitrogen compound metabolic process; midgut development; response to toxin; response to zinc ion; citrulline biosynthetic process; urea cycle; triglyceride catabolic process; response to food; response to lipopolysaccharide; cellular nitrogen compound metabolic process; response to drug | 2q35 |
| CPS1-IT1 | - | 2q34 |
| CPSF1 | mRNA cleavage; gene expression; RNA splicing; mRNA export from nucleus; mRNA processing; mRNA polyadenylation; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA 3'-end processing | 8q24.23 |
| CPSF1P1 | - | 22q12.3 |
| CPSF2 | transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; gene expression; mRNA export from nucleus; mRNA 3'-end processing; RNA splicing; histone mRNA 3'-end processing; mRNA processing; termination of RNA polymerase II transcription | 14q31.1 |
| CPSF3 | RNA splicing; mRNA polyadenylation; gene expression; mRNA export from nucleus; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; histone mRNA 3'-end processing; mRNA 3'-end processing; mRNA cleavage | 2p25.1 |
| CPSF3L | - | 1p36.33 |
| CPSF4 | mRNA processing; interspecies interaction between organisms; virus-host interaction; modulation by virus of host cellular process; viral infectious cycle; modification by virus of host mRNA processing | 7q22.1 |
| CPSF4L | - | 17q25.1 |
| CPSF6 | mRNA polyadenylation; protein tetramerization; mRNA processing | 12q15 |
| CPSF7 | termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; mRNA processing; RNA splicing; gene expression; mRNA 3'-end processing; protein tetramerization | 11q12.2 |
| CPT1A | protein homooligomerization; regulation of insulin secretion; regulation of fatty acid oxidation; small molecule metabolic process; cellular lipid metabolic process; eating behavior; response to drug; response to organic cyclic compound; carnitine shuttle; transport; triglyceride metabolic process; fatty acid beta-oxidation; glucose metabolic process; long-chain fatty acid metabolic process; positive regulation of fatty acid beta-oxidation | 11q13.2 |
| CPT1C | carnitine metabolic process; lipid metabolic process; fatty acid metabolic process | 19q13.33 |
| CPT2 | fatty acid metabolic process; regulation of fatty acid oxidation; small molecule metabolic process; cellular lipid metabolic process; carnitine shuttle; transport; fatty acid beta-oxidation | 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 | innate immune response; negative regulation of complement activation, alternative pathway; negative regulation of complement activation, classical pathway; negative regulation of serine-type endopeptidase activity; positive regulation of serine-type endopeptidase activity | 1q32 |
| CR1L | negative regulation of complement activation | 1q32.1 |
| CR2 | complement receptor mediated signaling pathway; innate immune response; immune response; complement activation, classical pathway | 1q32 |
| CRABP1 | multicellular organismal development; signal transduction | 15q24 |
| CRABP2 | regulation of transcription, DNA-dependent; signal transduction; epidermis development; embryonic forelimb morphogenesis; retinoic acid metabolic process | 1q21.3 |
| CRACR2A | activation of store-operated calcium channel activity; positive regulation of calcium ion transport; ion transport; store-operated calcium entry | 12p13.32 |
| CRACR2B | store-operated calcium entry | 11p15.5 |
| CRADD | induction of apoptosis via death domain receptors; regulation of apoptotic process; signal transduction; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; induction of apoptosis; cellular response to mechanical stimulus | 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 | cellular membrane organization; eye photoreceptor cell development; cell-cell signaling; establishment or maintenance of cell polarity | 1q31-q32.1 |
| CRB2 | - | 9q33.3 |
| CRB3 | tight junction assembly; protein localization in plasma membrane; cell-cell junction organization; cell junction assembly | 19p13.3 |
| CRBN | negative regulation of protein homooligomerization; negative regulation of ion transmembrane transport; proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; proteolysis; positive regulation of protein homodimerization activity | 3p26.2 |
| CRCP | neuropeptide signaling pathway; cellular metabolic process; innate immune response; response to stress; inflammatory response; acrosome reaction; response to virus; transcription from RNA polymerase III promoter | 7q11.21 |
| CRCT1 | - | 1q21 |
| CREB1 | innate immune response; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; positive regulation of multicellular organism growth; response to drug; regulation of circadian rhythm; regulation of apoptotic process; interspecies interaction between organisms; toll-like receptor 2 signaling pathway; 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; cellular response to growth factor stimulus; positive regulation of transforming growth factor beta3 production; toll-like receptor 1 signaling pathway; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pa | 2q34 |
| CREB3 | transcription, DNA-dependent; positive regulation of calcium ion transport; chemotaxis; reactivation of latent virus; positive regulation of cell migration; induction of positive chemotaxis; regulation of cell proliferation; positive regulation of transcription, DNA-dependent; negative regulation of cell cycle; interspecies interaction between organisms | 9p13.3 |
| CREB3L1 | response to unfolded protein | 11p11.2 |
| CREB3L2 | response to endoplasmic reticulum stress; response to unfolded protein; ER to Golgi vesicle-mediated transport; cartilage development; positive regulation of transcription, DNA-dependent; chondrocyte differentiation | 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 | histone acetylation; N-terminal peptidyl-lysine acetylation; germ-line stem cell maintenance; regulation of S phase; homeostatic process; embryonic digit morphogenesis; response to hypoxia; 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; regulation of smoothened signaling pathway; cell proliferation; Notch signaling pathway; signal transduction; protein complex assembly; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; gene expression | 16p13.3 |
| CREBL2 | regulation of transcription, DNA-dependent; transcription, DNA-dependent; cell cycle; signal transduction; cell differentiation; positive regulation of peptidyl-serine phosphorylation; protein stabilization; positive regulation of lipid biosynthetic process; positive regulation of glucose import; positive regulation of transcription, DNA-dependent; positive regulation of fat cell differentiation | 12p13 |
| CREBRF | - | 5q35.1 |
| CREBZF | transcription, DNA-dependent; regulation of sequence-specific DNA binding transcription factor activity; negative regulation of transcription, DNA-dependent; negative regulation of gene expression, epigenetic; response to virus | 11q14 |
| CREG1 | regulation of growth; regulation of transcription from RNA polymerase II promoter; multicellular organismal development; cell proliferation | 1q24 |
| CREG2 | - | 2q11.2 |
| CRELD1 | cardiac septum development; endocardial cushion development | 3p25.3 |
| CRELD2 | - | 22q13.33 |
| CREM | cell differentiation; spermatogenesis; multicellular organismal development; signal transduction; regulation of transcription, DNA-dependent | 10p11.21 |
| CRH | feeding behavior; long-term memory; learning or memory; parturition; female pregnancy; synaptic transmission; signal transduction; inflammatory response; response to stress; glucocorticoid biosynthetic process; synaptic transmission, dopaminergic; induction of apoptosis by hormones; positive regulation of circadian sleep/wake cycle, wakefulness; lung development; adrenal gland development; locomotory exploration behavior; negative regulation of circadian sleep/wake cycle, REM sleep; neuroprotection; positive regulation of cortisol secretion; regulation of N-methyl-D-aspartate selective glutamate receptor activity | 8q13 |
| CRHBP | learning or memory; hormone-mediated signaling pathway; behavior; female pregnancy; signal transduction; inflammatory response; maternal aggressive behavior; synaptic transmission, dopaminergic; cellular response to stress; negative regulation of corticotropin-releasing hormone receptor activity; cellular response to drug; cellular response to potassium ion; hormone metabolic process; regulated secretory pathway; 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; regulation of N-methyl-D-aspartate selective glutamate receptor activity | 5q11.2-q13.3 |
| CRHR1 | memory; activation of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity; eating behavior; 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; female pregnancy; parturition; visual learning; epithelial cell differentiation; negative regulation of appetite; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein coupled receptor signaling pathway; immune response; response to hypoxia; positive regulation of mast cell degranulation; neuroprotection; behavioral response to pain; long-term synaptic potentiation; cellular response to corticotropin-releasing hormone stimulus | 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; regulation of cell growth; insulin-like growth factor receptor signaling pathway | 2p21 |
| CRIP1 | cellular response to antibiotic; cellular response to UV-B; prostate gland stromal morphogenesis; regulation of gene expression; response to zinc ion; cell proliferation; heart development; immune response; response to organic substance; apoptotic process | 14q32.33 |
| CRIP1P4 | - | 22q11.2 |
| CRIP2 | positive regulation of cell proliferation; hemopoiesis | 14q32.3 |
| CRIP3 | - | 6p21.1 |
| CRIPAK | negative regulation of intracellular estrogen receptor signaling pathway; negative regulation of protein kinase activity; response to estrogen stimulus; regulation of cytoskeleton organization | 4p16.3 |
| CRIPT | establishment of protein localization; cytoplasmic microtubule organization | 2p21 |
| CRISP1 | fusion of sperm to egg plasma membrane | 6p21.3 |
| CRISP2 | - | 6p12.3 |
| CRISP3 | innate immune response; defense response | 6p12.3 |
| CRISPLD1 | - | 8q21.11 |
| CRISPLD2 | - | 16q24.1 |
| CRK | insulin receptor signaling pathway; platelet activation; regulation of Rho GTPase activity; regulation of actin cytoskeleton organization; regulation of Rac protein signal transduction; nerve growth factor receptor signaling pathway; ephrin receptor signaling pathway; blood coagulation; regulation of transcription from RNA polymerase II promoter; activation of MAPKK activity | 17p13.3 |
| CRKL | organ morphogenesis; JNK cascade; Ras protein signal transduction; pattern specification process; heart development; anterior/posterior pattern specification; intracellular signal transduction; thymus development; parathyroid gland development; blood vessel development | 22q11.21 |
| CRLF1 | positive regulation of cell proliferation; ureteric bud development; 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; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of S phase of mitotic cell cycle; negative regulation of cell growth | 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 | RNA processing; RNA splicing; nuclear mRNA splicing, via spliceosome; spliceosome assembly | 20p11.2 |
| CROCC | centrosome organization; cell projection organization; cell cycle; protein localization | 1p36.13 |
| CROCCP1 | - | Xq26.3 |
| CROCCP2 | - | 1p36.13 |
| CROCCP3 | - | 1p36.13 |
| CROCCP4 | - | - |
| CROT | cellular lipid metabolic process; small molecule metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; transport; fatty acid beta-oxidation; fatty acid metabolic process | 7q21.1 |
| CRP | acute-phase response; response to hypoxia; inflammatory response; complement activation, classical pathway; opsonization; response to lead ion; negative regulation of macrophage derived foam cell differentiation; negative regulation of lipid storage; protein polymerization | 1q23.2 |
| CRTAC1 | - | 10q22 |
| CRTAM | detection of tumor cell; T cell mediated cytotoxicity; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; cell recognition; positive regulation of natural killer cell mediated cytotoxicity; positive regulation of cytokine secretion; regulation of immune response; detection of stimulus; activated T cell proliferation | 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 | gluconeogenesis; regulation of transcription, DNA-dependent; positive regulation of CREB transcription factor activity; protein homotetramerization; interspecies interaction between organisms; glucose homeostasis | 1q21.3 |
| CRTC3 | regulation of transcription, DNA-dependent; positive regulation of CREB transcription factor activity; protein homotetramerization; interspecies interaction between organisms | 15q26.1 |
| CRX | visual perception; regulation of transcription, DNA-dependent; multicellular organismal development; organ morphogenesis; positive regulation of transcription from RNA polymerase II promoter; response to stimulus; retina development in camera-type eye | 19q13.3 |
| CRY1 | negative regulation of transcription from RNA polymerase II promoter; DNA repair; response to stimulus; regulation of circadian rhythm; protein-chromophore linkage; blue light signaling pathway; regulation of transcription, DNA-dependent | 12q23-q24.1 |
| CRY2 | regulation of circadian rhythm; 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; 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 | eye development; visual perception; lens development in camera-type eye | 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 | negative regulation of transcription from RNA polymerase II promoter; sensory perception of sound; thyroid hormone transport | 16p12.2 |
| CRYM-AS1 | - | 16p12.2 |
| CRYZ | visual perception; xenobiotic catabolic process; protein homotetramerization | 1p31.1 |
| CRYZL1 | quinone cofactor metabolic process | 21q21.3 |
| CS | cellular carbohydrate metabolic process; small molecule metabolic process; citrate metabolic process; tricarboxylic acid cycle; acetyl-CoA metabolic process; carbohydrate metabolic process; oxaloacetate metabolic process | 12q13.2 |
| CSAD | sulfur amino acid catabolic process; sulfur amino acid metabolic 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 | regulation of transcription, DNA-dependent; mRNA processing; histone mRNA 3'-end processing | 22q13.2 |
| CSDE1 | male gonad development; regulation of transcription, DNA-dependent | 1p22 |
| CSE1L | cell proliferation; apoptotic process; intracellular protein transport | 20q13 |
| CSF1 | innate immune response; 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; positive regulation of protein kinase activity; positive regulation of cell-matrix adhesion; 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; positive regulation of macrophage derived foam cell differentiation; hemopoiesis; cell differentiation; macrophage differentiation; regulation of ossification; osteoclast differentiation; positive regulation of cell migration; positive regulation of cellular protein metabolic process; positive regulation of mononuclear cell proliferation; positive regulation of multicellular organism growth; monocyte activation; odontogenesis; positive regulation of odontogenesis of dentin-containing tooth; posi | 1p13.3 |
| CSF1R | 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; ruffle organization; regulation of cell shape; positive regulation of protein phosphorylation; mammary gland duct morphogenesis; inflammatory response; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; multicellular organismal development; cell proliferation; positive regulation of cell proliferation; phosphatidylinositol-mediated signaling; peptidyl-tyrosine phosphorylation; cytokine-mediated signaling pathway; hemopoiesis; monocyte differentiation; macrophage differentiation; osteoclast differentiation; positive regulation of cell migration; cellular response to macrophage colony-stimulating factor stimulus; protein autophosphorylation; p | 5q32 |
| CSF2 | immune response; positive regulation of DNA replication; embryonic placenta development; positive regulation of survival gene product expression; positive regulation of cell proliferation; positive regulation of gene expression; positive regulation of macrophage derived foam cell differentiation; positive regulation of interleukin-23 production; epithelial fluid transport; positive regulation of tyrosine phosphorylation of Stat5 protein; myeloid dendritic cell differentiation; negative regulation of apoptotic process; negative regulation of cytolysis; positive regulation of podosome assembly; dendritic cell differentiation | 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 | signal transduction; cell adhesion; defense response | 1p35-p34.3 |
| CSGALNACT1 | chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; dermatan sulfate proteoglycan biosynthetic process; chondroitin sulfate proteoglycan biosynthetic process; UDP-glucuronate metabolic process; UDP-N-acetylgalactosamine metabolic process; heparin biosynthetic process; nervous system development; chondroitin sulfate biosynthetic process; cell recognition; extracellular matrix organization; proteoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; cell proliferation; anatomical structure morphogenesis | 8p21.3 |
| CSGALNACT2 | proteoglycan biosynthetic process; chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; dermatan sulfate proteoglycan biosynthetic process; chondroitin sulfate proteoglycan biosynthetic process | 10q11.21 |
| CSH1 | JAK-STAT cascade involved in growth hormone signaling pathway; female pregnancy; signal transduction | 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; T cell receptor signaling pathway; peptidyl-tyrosine dephosphorylation | 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 | cell division; protein phosphorylation; cell cycle; mitosis; signal transduction; cell surface receptor signaling pathway; Wnt receptor signaling pathway | 5q32 |
| CSNK1A1L | Wnt receptor signaling pathway | 13q13.3 |
| CSNK1A1P1 | - | 15q14 |
| CSNK1D | signal transduction; positive regulation of canonical Wnt receptor signaling pathway; spindle assembly; rhythmic process; regulation of circadian rhythm; circadian regulation of gene expression; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; Wnt receptor signaling pathway; protein phosphorylation; DNA repair; positive regulation of protein phosphorylation; mitotic cell cycle; G2/M transition of mitotic cell cycle | 17q25 |
| CSNK1E | negative regulation of Wnt receptor signaling pathway; cellular protein localization; G2/M transition of mitotic cell cycle; mitotic cell cycle; DNA repair; protein phosphorylation; signal transduction; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of canonical Wnt receptor signaling pathway | 22q13.1 |
| CSNK1G1 | Wnt receptor signaling pathway | 15q22.1-q22.31 |
| CSNK1G2 | sphingolipid biosynthetic process; small molecule metabolic process; protein autophosphorylation; Wnt receptor signaling pathway; signal transduction; sphingolipid metabolic process; protein phosphorylation | 19p13.3 |
| CSNK1G3 | protein modification process; protein phosphorylation; signal transduction; Wnt receptor signaling pathway | 5q23 |
| CSNK2A1 | regulation of transcription, DNA-dependent; protein phosphorylation; cell cycle; signal transduction; mitotic cell cycle spindle checkpoint; chaperone-mediated protein folding; regulation of catalytic activity; protein autophosphorylation; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of Wnt receptor signaling pathway; axon guidance | 20p13 |
| CSNK2A2 | mitotic cell cycle spindle checkpoint; regulation of transcription, DNA-dependent; apoptotic process; axon guidance; Wnt receptor signaling pathway; regulation of cell cycle | 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 | multicellular organismal development; angiogenesis; neuron remodeling; cell differentiation; positive regulation of peptidyl-tyrosine phosphorylation; tissue remodeling; neuron fate commitment; intracellular signal transduction | 15q24.2 |
| CSPG4P11 | - | - |
| CSPG4P2Y | - | Yq11.23 |
| CSPG4P5 | - | 15q25.2 |
| CSPG5 | multicellular organismal development; cell differentiation; nervous system development; regulation of synaptic transmission; intracellular transport; regulation of growth | 3p21.3 |
| CSPP1 | positive regulation of cell division; positive regulation of cell cycle cytokinesis | 8q13.2 |
| CSRNP1 | positive regulation of transcription from RNA polymerase II promoter; post-embryonic development; apoptotic process; platelet-derived growth factor receptor signaling pathway; skeletal system morphogenesis; palate development; face morphogenesis | 3p22 |
| CSRNP2 | negative regulation of phosphatase activity; apoptotic process; positive regulation of transcription from RNA polymerase II promoter | 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 | myoblast differentiation; cell differentiation; multicellular organismal development | 12q21.1 |
| CSRP2BP | embryo development; histone H3 acetylation; cell cycle process | 20p11.23 |
| CSRP3 | skeletal muscle tissue development; blood vessel remodeling; multicellular organismal development; cell differentiation; muscle organ development; cellular calcium ion homeostasis; cardiac muscle tissue development; regulation of the force of heart contraction | 11p15.1 |
| CST1 | - | 20p11.21 |
| CST13P | - | 20p11.21 |
| CST2 | - | 20p11.21 |
| CST2P1 | - | 20p11.21 |
| CST3 | 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; eye development; response to hypoxia; cell activation; apoptotic process; defense response; brain development; salivary gland development; response to nutrient levels; embryo implantation; positive regulation of cell proliferation; male gonad development; response to toxin; response to carbohydrate stimulus; response to inorganic substance; negative regulation of peptidase activity; negative regulation of histolysis; negative regulation of collagen catabolic process; negative regulation of extracellular matrix disassembly; negative regulation of endopeptidase activity; response to organic cyclic compound; response to axon injury; response to estradiol stimulus; regulation of tissue remodeling; cellular response to oxidative stress; response to drug; circadian sleep/wake cycle, REM sleep; regu | 20p11.21 |
| CST4 | - | 20p11.21 |
| CST6 | anatomical structure morphogenesis; epidermis development | 11q13 |
| CST7 | immune response; negative regulation of endopeptidase activity | 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 | gene expression; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA polyadenylation; mRNA cleavage; RNA processing; mRNA processing; RNA splicing; mRNA 3'-end processing | 20q13.2 |
| CSTF2 | nuclear mRNA splicing, via spliceosome; mRNA 3'-end processing; gene expression; RNA splicing; mRNA cleavage; mRNA polyadenylation; termination of RNA polymerase II transcription; mRNA processing; transcription from RNA polymerase II promoter | Xq22.1 |
| CSTF2T | mRNA processing | 10q11 |
| CSTF3 | gene expression; mRNA 3'-end processing; RNA splicing; mRNA processing; RNA processing; mRNA polyadenylation; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; mRNA cleavage | 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 | 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; oxidation-reduction process; negative regulation of histone H4 acetylation; negative regulation of transcription from RNA polymerase II promoter | 4p16 |
| CTBP1-AS2 | - | 4p16.3 |
| CTBP2 | negative regulation of cell proliferation; viral genome replication; cell differentiation; negative regulation of transcription, DNA-dependent; white fat cell differentiation; oxidation-reduction process | 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 | positive regulation of DNA replication; telomere maintenance | 17p13.1 |
| CTCF | positive regulation of gene expression; chromosome segregation; chromatin modification; nucleosome positioning; regulation of histone methylation; maintenance of DNA 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 gene expression by genetic imprinting; regulation of centromeric sister chromatid cohesion | 16q21-q22.3 |
| CTCFL | cell cycle; regulation of gene expression by genetic imprinting; positive regulation of gene expression; chromatin modification; histone methylation; DNA methylation involved in gamete generation; 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 | nuclear envelope organization; positive regulation of triglyceride biosynthetic process; protein localization to nucleus; protein dephosphorylation | 17p13 |
| CTDP1 | protein dephosphorylation; transcription elongation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; gene expression; viral reproduction; positive regulation of viral transcription | 18q23 |
| CTDSP1 | negative regulation of neuron differentiation; regulation of transcription from RNA polymerase II promoter; protein dephosphorylation; negative regulation of neurogenesis | 2q35 |
| CTDSP2 | protein dephosphorylation; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response | 12q14.1 |
| CTDSPL | - | 3p21.3 |
| CTDSPL2 | - | 15q15.3-q21.1 |
| CTF1 | neuron development; leukemia inhibitory factor signaling pathway; positive regulation of cell proliferation; muscle organ development; cell proliferation; nervous system development; cell-cell signaling | 16p11.2 |
| CTGF | positive regulation of cell death; organ senescence; response to fatty acid; positive regulation of ERK1 and ERK2 cascade; positive regulation of G0 to G1 transition; extracellular matrix constituent secretion; positive regulation of cardiac muscle contraction; response to glucose stimulus; cytosolic calcium ion transport; positive regulation of stress fiber assembly; response to mineralocorticoid stimulus; positive regulation of gene expression; positive regulation of cell activation; response to organic cyclic compound; lung development; response to estradiol stimulus; positive regulation of collagen biosynthetic process; response to anoxia; intracellular signal transduction; response to amino acid stimulus; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; response to peptide hormone stimulus; cellular lipid metabolic process; small molecule metabolic process; positive regulation of cell differentiation; positive regulation of JNK cascade; positive regulation of cel | 6q23.1 |
| CTGLF10P | - | 10q11.22 |
| CTGLF11P | regulation of ARF GTPase activity | 10q11.22 |
| CTGLF12P | - | 10q11.22 |
| CTGLF9P | - | 10q11.22 |
| CTH | small molecule metabolic process; negative regulation of cell proliferation; glutathione metabolic process; cysteine metabolic process; sulfur amino acid catabolic process; cellular amino acid biosynthetic process; sulfur amino acid metabolic process; protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine; cysteine biosynthetic process; transsulfuration; negative regulation of cell growth; cellular nitrogen compound metabolic process; protein homotetramerization; hydrogen sulfide biosynthetic process | 1p31.1 |
| CTHRC1 | 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; establishment of planar polarity involved in neural tube closure | 8q22.3 |
| CTIF | RNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; regulation of translational initiation | 18q21.1 |
| CTLA4 | positive regulation of apoptotic process; negative regulation of B cell proliferation; immune response; T cell costimulation; response to DNA damage stimulus; negative regulation of regulatory T cell differentiation; B cell receptor signaling pathway | 2q33 |
| CTNNA1 | negative regulation of apoptotic process; male gonad development; aging; negative regulation of neuroblast proliferation; establishment or maintenance of cell polarity; response to organic cyclic compound; gap junction assembly; axon regeneration; cell junction assembly; adherens junction organization; regulation of cell proliferation; odontogenesis of dentin-containing tooth; cell adhesion; ovarian follicle development; cellular response to indole-3-methanol; positive regulation of muscle cell differentiation; positive regulation of smoothened signaling pathway; cell-cell junction organization; response to estrogen stimulus; apical junction assembly; muscle cell differentiation | 5q31.2 |
| CTNNA1P1 | - | 5q22 |
| CTNNA2 | dendrite morphogenesis; multicellular organismal development; axonogenesis; cell-cell adhesion; radial glia guided migration of Purkinje cell; muscle cell differentiation; prepulse inhibition; regulation of synapse structural plasticity; positive regulation of muscle cell differentiation; brain morphogenesis | 2p12-p11.1 |
| CTNNA3 | cell-cell adhesion | 10q22.2 |
| CTNNAL1 | Rho protein signal transduction; cell adhesion | 9q31.2 |
| CTNNB1 | negative regulation of transcription, DNA-dependent; positive regulation of osteoblast differentiation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; response to cadmium ion; regulation of fibroblast proliferation; determination of dorsal/ventral asymmetry; cell maturation; synaptic vesicle transport; thymus development; oocyte development; embryonic foregut morphogenesis; regulation of smooth muscle cell proliferation; negative regulation of oligodendrocyte differentiation; positive regulation of anti-apoptosis; regulation of angiogenesis; positive regulation of fibroblast growth factor receptor signaling pathway; negative regulation of osteoclast differentiation; canonical Wnt receptor signaling pathway; positive regulation of endothelial cell differentiation; bone resorption; myoblast differentiation; canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis; canonical Wnt receptor signaling pathway inv | 3p21 |
| CTNNBIP1 | positive regulation of monocyte differentiation; negative regulation of mesenchymal cell proliferation; negative regulation of transcription initiation from RNA polymerase II promoter; negative regulation of smooth muscle cell proliferation; positive regulation of osteoblast differentiation; negative regulation of transcription from RNA polymerase II promoter; branching involved in ureteric bud morphogenesis; regulation of vascular permeability involved in acute inflammatory response; anterior/posterior pattern specification; negative regulation of Wnt receptor signaling pathway; negative regulation of protein complex assembly; negative regulation of protein binding; negative regulation of DNA binding; negative regulation of sequence-specific DNA binding transcription factor activity | 1p36.22 |
| CTNNBL1 | somatic diversification of immunoglobulins; positive regulation of apoptotic process | 20q11.23-q12 |
| CTNND1 | keratinocyte differentiation; morphogenesis of a polarized epithelium; regulation of transcription, DNA-dependent; cell adhesion; salivary gland morphogenesis; Wnt receptor signaling pathway; cell-cell adhesion; epithelial cell differentiation involved in salivary gland development; 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; regulation of synaptic plasticity; learning; multicellular organismal development; signal transduction | 5p15.2 |
| CTNS | brain development; cellular amino acid metabolic process; glutathione metabolic process; transport; L-cystine transport; ATP metabolic process; cognition | 17p13 |
| CTPS1 | small molecule metabolic process; nucleobase-containing small molecule metabolic process; nucleobase-containing compound metabolic process; pyrimidine nucleotide biosynthetic process; CTP biosynthetic process; glutamine metabolic process; nucleobase-containing small molecule interconversion; response to drug | 1p34.1 |
| CTPS2 | pyrimidine nucleotide metabolic process; glutamine metabolic process; pyrimidine nucleotide biosynthetic process; nucleobase-containing small molecule interconversion; small molecule metabolic process; nucleobase-containing small molecule metabolic process | Xp22 |
| CTR9 | histone H2B ubiquitination; histone monoubiquitination | 11p15.3 |
| CTRB2 | proteolysis; digestion | 16q23.1 |
| CTRC | proteolysis | 1p36.21 |
| CTRL | proteolysis; digestion | 16q22.1 |
| CTSA | glycosphingolipid metabolic process; proteolysis; sphingolipid metabolic process; small molecule metabolic process; positive regulation of catalytic activity; intracellular protein transport | 20q13.1 |
| CTSB | response to glucose stimulus; proteolysis; autophagy; skeletal muscle tissue development; response to wounding; response to mechanical stimulus; response to organic cyclic compound; response to amine stimulus; regulation of apoptotic process; response to peptide hormone stimulus; response to ethanol; regulation of catalytic activity; negative regulation of cell death; response to interleukin-4; cellular response to thyroid hormone stimulus | 8p22 |
| CTSC | immune response; response to organic substance; aging; proteolysis | 11q14.2 |
| CTSD | cell death; proteolysis | 11p15.5 |
| CTSE | digestion; proteolysis; antigen processing and presentation of exogenous peptide antigen via MHC class II | 1q31 |
| CTSF | proteolysis | 11q13 |
| CTSG | immune response; proteolysis; neutrophil mediated killing of gram-positive bacterium; defense response to fungus; positive regulation of immune response; negative regulation of growth of symbiont in host; response to lipopolysaccharide | 14q11.2 |
| CTSH | dichotomous subdivision of terminal units involved in lung branching; positive regulation of angiogenesis; ERK1 and ERK2 cascade; cellular response to thyroid hormone stimulus; negative regulation of apoptotic process; surfactant homeostasis; metanephros development; T cell mediated cytotoxicity; adaptive immune response; immune response-regulating signaling pathway; proteolysis; positive regulation of cell proliferation; positive regulation of gene expression; positive regulation of epithelial cell migration; neuropeptide catabolic process; bradykinin catabolic process; zymogen activation; positive regulation of cell migration; antigen processing and presentation; positive regulation of peptidase activity; protein destabilization; response to retinoic acid; membrane protein proteolysis | 15q25.1 |
| CTSK | proteolysis; intramembranous ossification; 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 | antigen processing and presentation; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular response to thyroid hormone stimulus; immune response; proteolysis; 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; adaptive immune response | 1q21 |
| CTSV | - | 9q22.2 |
| CTSW | proteolysis; immune response | 11q13.1 |
| CTSZ | epithelial tube branching involved in lung morphogenesis; proteolysis | 20q13.32 |
| CTTN | - | 11q13 |
| CTTNBP2 | brain development | 7q31 |
| CTTNBP2NL | - | 1p13.2 |
| CTU1 | tRNA wobble uridine modification; tRNA processing; tRNA thio-modification | 19q13.41 |
| CTU2 | tRNA thio-modification; tRNA processing; tRNA wobble uridine modification | 16q24.3 |
| CTXN1 | - | 19p13.2 |
| CUBN | in utero embryonic development; tissue homeostasis; lipid metabolic process; receptor-mediated endocytosis; lipoprotein metabolic process; protein homotrimerization; lipoprotein transport; response to nutrient; steroid metabolic process; cholesterol metabolic process; cobalamin transport; small molecule metabolic process; vitamin D metabolic process; hemoglobin import | 10p12.31 |
| CUBNP3 | - | - |
| CUEDC1 | - | 17q23.2 |
| CUEDC2 | - | 10q24.32 |
| CUL1 | induction of apoptosis by intracellular signals; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; mitotic cell cycle; ubiquitin-dependent protein catabolic process; apoptotic process; cell cycle arrest; negative regulation of cell proliferation; organ morphogenesis; protein ubiquitination; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; interspecies interaction between organisms; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle | 7q36.1 |
| CUL2 | interspecies interaction between organisms; protein catabolic process; induction of apoptosis by intracellular signals; negative regulation of cell proliferation; cell cycle arrest; ubiquitin-dependent protein catabolic process; G1/S transition of mitotic cell cycle | 10p11.21 |
| CUL3 | positive regulation of cell proliferation; cyclin catabolic process; anaphase; proteasomal ubiquitin-dependent protein catabolic process; G1/S transition of mitotic cell cycle; mitotic anaphase; stress fiber assembly; cytokinesis; in utero embryonic development; trophectodermal cellular morphogenesis; cell morphogenesis; induction of apoptosis by intracellular signals; Wnt receptor signaling pathway; cell cycle arrest; gastrulation; negative regulation of Rho protein signal transduction; protein ubiquitination; cell migration | 2q36.2 |
| CUL4A | ubiquitin-dependent protein catabolic process; cell cycle arrest; DNA repair; G1/S transition of mitotic cell cycle; regulation of mitotic cell cycle; negative regulation of cell proliferation; induction of apoptosis by intracellular signals; interspecies interaction between organisms; positive regulation of S phase of mitotic cell cycle; regulation of protein metabolic process | 13q34 |
| CUL4AP1 | - | 4q26 |
| CUL4B | DNA repair; ubiquitin-dependent protein catabolic process; cell cycle | Xq23 |
| CUL5 | cell proliferation; cell cycle arrest; response to osmotic stress; interspecies interaction between organisms; ubiquitin-dependent protein catabolic process; negative regulation of cell proliferation; induction of apoptosis by intracellular signals; viral reproduction; cytosolic calcium ion homeostasis; calcium ion transmembrane transport; G1/S transition of mitotic cell cycle | 11q22.3 |
| CUL7 | ubiquitin-dependent protein catabolic process; interspecies interaction between organisms; endoplasmic reticulum unfolded protein response; activation of signaling protein activity involved in unfolded protein response; vasculogenesis; proteolysis | 6p21.1 |
| CUL9 | ubiquitin-dependent protein catabolic process | 6p21.1 |
| CUTA | response to metal ion; protein localization | 6p21.32 |
| CUTC | copper ion transport; copper ion homeostasis; protein tetramerization | 10q24.2 |
| CUX1 | auditory receptor cell differentiation; 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; lung development | 7q22.1 |
| CUX2 | negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 12q24.12 |
| CUZD1 | substrate-dependent cell migration, cell attachment to substrate; cell cycle; cell adhesion; hormone-mediated signaling pathway; cell proliferation; trypsinogen activation; cell division | 10q26.13 |
| CWC15 | RNA splicing; nuclear mRNA splicing, via spliceosome | 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 | leukocyte chemotaxis; positive regulation of transforming growth factor beta1 production; negative regulation of apoptotic process; positive regulation of angiogenesis; positive regulation of cell adhesion; 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; negative regulation of vasoconstriction; positive regulation of cell migration; platelet activation; cytokine-mediated signaling pathway; positive regulation of macrophage chemotaxis; neutrophil chemotaxis; immune response; defense response; chemotaxis; response to hypoxia | 16q13 |
| CX3CR1 | microglial cell activation involved in immune response; chemotaxis; cellular defense response; cell adhesion; G-protein coupled receptor signaling pathway; response to wounding; cerebral cortex cell migration; negative regulation of angiogenesis; 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; negative regulation of cell migration | 3p21.3 |
| CXADR | cell-cell junction organization; interspecies interaction between organisms; homotypic cell-cell adhesion; actin cytoskeleton reorganization; cardiac muscle fiber development; regulation of immune response; leukocyte migration; defense response to virus; negative regulation of cardiac muscle cell proliferation; atrioventricular node impulse conduction delay; transepithelial transport; neutrophil chemotaxis; epithelial structure maintenance; germ cell migration; blood coagulation; heterophilic cell-cell adhesion; cell adhesion; mitochondrion organization; heart development | 21q21.1 |
| CXADRP2 | - | 15q11.2 |
| CXADRP3 | - | 18p11.21 |
| CXCL1 | negative regulation of cell proliferation; positive regulation of catalytic activity; intracellular signal transduction; actin cytoskeleton organization; cell proliferation; nervous system development; G-protein coupled receptor signaling pathway; signal transduction; immune response; inflammatory response; chemotaxis | 4q21 |
| CXCL10 | muscle organ development; response to gamma radiation; response to auditory stimulus; negative regulation of angiogenesis; positive regulation of cell migration; response to lipopolysaccharide; response to vitamin D; cellular response to heat; defense response to virus; signal transduction; positive regulation of leukocyte chemotaxis; chemotaxis; inflammatory response; immune response; blood circulation; positive regulation of cell proliferation; protein secretion; response to cold; cell surface receptor signaling pathway; cell-cell signaling | 4q21 |
| CXCL11 | chemotaxis; cell-cell signaling; signal transduction; immune response; inflammatory response | 4q21.2 |
| CXCL12 | negative regulation of leukocyte apoptosis; positive regulation of monocyte chemotaxis; chemokine-mediated signaling pathway; negative regulation of apoptotic process; response to virus; regulation of actin polymerization or depolymerization; G-protein coupled receptor signaling pathway; signal transduction; cell adhesion; immune response; chemotaxis; blood circulation; cellular calcium ion homeostasis | 10q11.1 |
| CXCL14 | cell-cell signaling; chemotaxis; immune response; signal transduction | 5q31 |
| CXCL16 | lymphocyte chemotaxis; receptor-mediated endocytosis; chemotaxis; positive regulation of cell growth; positive regulation of cell migration; response to cytokine stimulus; response to tumor necrosis factor; response to interferon-gamma | 17p13 |
| CXCL17 | cell differentiation; multicellular organismal development; chemotaxis; angiogenesis | 19q13.2 |
| CXCL2 | immune response; inflammatory response; chemotaxis; response to molecule of bacterial origin | 4q21 |
| CXCL3 | immune response; inflammatory response; chemotaxis; neutrophil chemotaxis | 4q21 |
| CXCL5 | positive regulation of cell proliferation; cell-cell signaling; signal transduction; immune response; chemotaxis | 4q13.3 |
| CXCL6 | cell-cell signaling; signal transduction; immune response; inflammatory response; chemotaxis | 4q13.3 |
| CXCL8 | negative regulation of cell proliferation; calcium-mediated signaling; regulation of cell adhesion; neutrophil chemotaxis; endoplasmic reticulum unfolded protein response; receptor internalization; intracellular signal transduction; neutrophil activation; cellular response to fibroblast growth factor stimulus; regulation of retroviral genome replication; negative regulation of G-protein coupled receptor protein signaling pathway; embryonic digestive tract development; induction of positive chemotaxis; cellular response to lipopolysaccharide; cellular response to interleukin-1; cellular response to tumor necrosis factor; positive regulation of neutrophil chemotaxis; G-protein coupled receptor signaling pathway; signal transduction; cell cycle arrest; activation of signaling protein activity involved in unfolded protein response; immune response; inflammatory response; chemotaxis; cellular component movement; response to molecule of bacterial origin; angiogenesis | 4q13-q21 |
| CXCL9 | immune response; defense response to virus; cell-cell signaling; G-protein coupled receptor signaling pathway; signal transduction; cellular defense response; inflammatory response; chemotaxis; defense response | 4q21 |
| CXCR1 | inflammatory response; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; receptor internalization; chemotaxis; dendritic cell chemotaxis | 2q35 |
| CXCR2 | inflammatory response; neutrophil chemotaxis; positive regulation of cell proliferation; receptor internalization; neutrophil activation; chemotaxis; dendritic cell chemotaxis; signal transduction; cellular defense response; cell surface receptor signaling pathway; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger | 2q35 |
| CXCR2P1 | - | 2q35 |
| CXCR3 | cellular component movement; chemotaxis; cell adhesion; elevation of cytosolic calcium ion concentration | Xq13 |
| CXCR4 | regulation of chemotaxis; myelin maintenance; activation of MAPK activity; response to hypoxia; dendritic cell chemotaxis; apoptotic process; inflammatory response; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration; response to virus; viral reproduction; interspecies interaction between organisms; initiation of viral infection; calcium-mediated signaling; entry into host cell; positive regulation of oligodendrocyte differentiation | 2q21 |
| CXCR5 | cellular component movement; G-protein coupled receptor signaling pathway; B cell activation; 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; histone H3-K4 methylation; activation of signaling protein activity involved in unfolded protein response; regulation of transcription, DNA-dependent | 18q12 |
| CXXC1P1 | - | Xp11.23 |
| CXXC4 | negative regulation of Wnt receptor signaling pathway; zygotic specification of dorsal/ventral axis | 4q22-q24 |
| CXXC5 | positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction | 5q31.2 |
| CYB561 | transport; generation of precursor metabolites and energy; electron transport chain | 17q23.3 |
| CYB561A3 | - | 11q12.2 |
| CYB561D1 | transport; electron transport chain | 1p13.3 |
| CYB561D2 | electron transport chain; transport | 3p21.3 |
| CYB5A | water-soluble vitamin metabolic process; vitamin metabolic process; transport; L-ascorbic acid metabolic process; electron transport chain; small molecule metabolic process | 18q23 |
| CYB5AP5 | - | 14q12 |
| CYB5B | electron transport chain; transport | 16q22.1 |
| CYB5D1 | - | 17p13.1 |
| CYB5D2 | nervous system development | 17p13.2 |
| CYB5R1 | sterol biosynthetic process | 1q32.1 |
| CYB5R2 | sterol biosynthetic process; oxidation-reduction process | 11p15.4 |
| CYB5R3 | small molecule metabolic process; L-ascorbic acid metabolic process; blood circulation; water-soluble vitamin metabolic process; cholesterol biosynthetic process; vitamin metabolic process | 22q13.2 |
| CYB5R4 | generation of precursor metabolites and energy; oxidation-reduction process; cell development; response to antibiotic; glucose homeostasis; insulin secretion; superoxide metabolic process; detection of oxygen | 6pter-q22.33 |
| CYB5RL | - | 1p32.3 |
| CYBA | respiratory burst; innate immune response; superoxide metabolic process; 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; superoxide anion generation; transport; hydrogen peroxide biosynthetic process; oxidation-reduction process; 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; positive regulation of endothelial cell proliferation; negative regulation of glomerular filtration by angiotensin | 16q24 |
| CYBB | ion transport; inflammatory response; electron transport chain; superoxide anion generation; antigen processing and presentation of exogenous peptide antigen via MHC class I; innate immune response; respiratory burst; 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; superoxide metabolic process; hydrogen peroxide biosynthetic process; oxidation-reduction process | Xp21.1 |
| CYBRD1 | cellular iron ion homeostasis; response to iron ion; electron transport chain; transmembrane transport | 2q31.1 |
| CYC1 | transport; respiratory electron transport chain; response to glucagon stimulus; small molecule metabolic process | 8q24.3 |
| CYCS | apoptotic process; cellular respiration; small molecule metabolic process; induction of apoptosis by intracellular signals; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; DNA fragmentation involved in apoptotic nuclear change; transport; 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 | cell differentiation; ruffle organization; regulation of cell shape; axon extension; nervous system development; multicellular organismal development; lamellipodium assembly | 15q11 |
| CYFIP2 | cell-cell adhesion; apoptotic process | 5q33.3 |
| CYGB | response to oxidative stress; oxygen transport; transport | 17q25 |
| CYHR1 | - | 8q24.3 |
| CYLD | positive regulation of extrinsic apoptotic signaling pathway; protein K63-linked deubiquitination; translation; proteolysis; ubiquitin-dependent protein catabolic process; induction of apoptosis; cell cycle; regulation of mitotic cell cycle; Wnt receptor signaling pathway; 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 microtubule cytoskeleton organization; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of NF-kappaB transcription factor activity | 16q12.1 |
| CYMP | - | 1p13.3 |
| CYP11A1 | response to L-ascorbic acid; response to insecticide; Leydig cell differentiation; response to vitamin E; hippocampus development; cerebellum development; phthalate metabolic process; phenol-containing compound metabolic process; dibenzo-p-dioxin metabolic process; biphenyl metabolic process; response to acid; organic acid metabolic process; C21-steroid hormone biosynthetic process; progesterone biosynthetic process; estrogen biosynthetic process; xenobiotic metabolic process; response to nutrient; mating behavior; steroid metabolic process; cholesterol metabolic process; response to salt stress; response to gamma radiation; Schwann cell differentiation; vitamin D metabolic process; response to genistein; cellular response to transforming growth factor beta stimulus; cellular response to peptide hormone stimulus; cellular response to follicle-stimulating hormone stimulus; cellular response to tumor necrosis factor; cellular response to interleukin-1; cellular response to cAMP; cellular response to cadmium ion | 15q23-q24 |
| CYP11B1 | immune response; oxidation-reduction process; 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; response to stress; xenobiotic metabolic process; mineralocorticoid biosynthetic process; glucocorticoid biosynthetic process; C21-steroid hormone biosynthetic process | 8q21 |
| CYP11B2 | C21-steroid hormone biosynthetic process; sodium ion homeostasis; potassium ion homeostasis; small molecule metabolic process; cellular response to potassium ion; cortisol biosynthetic process; cellular response to hormone stimulus; steroid metabolic process; xenobiotic metabolic process; mineralocorticoid biosynthetic process; aldosterone biosynthetic process; renal water homeostasis; regulation of blood volume by renal aldosterone | 8q21-q22 |
| CYP17A1 | 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; response to fungicide; cellular response to lipopolysaccharide; cellular response to antibiotic; cellular response to gonadotropin stimulus; positive regulation of steroid hormone biosynthetic process; sex differentiation; phthalate metabolic process; organic acid metabolic process; steroid biosynthetic process; androgen biosynthetic process; glucocorticoid biosynthetic process; xenobiotic metabolic process; hippocampus development; steroid metabolic process; response to herbicide; response to acetate; response to ionizing radiation; response to organic cyclic compound; response to insecticide; biphenyl metabolic process; dibenzo-p-dioxin metabolic process; phenol-containing compound metabolic process | 10q24.3 |
| CYP19A1 | granulocyte differentiation; response to estradiol stimulus; response to testosterone stimulus; progesterone metabolic process; response to drug; adrenal gland development; 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; response to organic cyclic compound; hypothalamus development; melatonin metabolic process; steroid biosynthetic process; estrogen biosynthetic process; xenobiotic metabolic process; steroid metabolic process; bile acid metabolic process; androgen metabolic process; male gonad development; response to cesium ion; response to ionizing radiation; biphenyl metabolic process; dibenzo-p-dioxin metabolic process; phthalate metabolic process; hippocampus development; response to herb | 15q21.1 |
| CYP1A1 | insecticide metabolic process; drug metabolic process; dibenzo-p-dioxin catabolic process; response to food; response to lipopolysaccharide; developmental process; response to vitamin A; small molecule metabolic process; vitamin D metabolic process; response to drug; 9-cis-retinoic acid biosynthetic process; camera-type eye development; cellular lipid metabolic process; oxidation-reduction process; response to organic cyclic compound; response to iron(III) ion; flavonoid metabolic process; coumarin metabolic process; embryo development ending in birth or egg hatching; response to herbicide; response to nematode; response to virus; response to wounding; amine metabolic process; cell proliferation; xenobiotic metabolic process; porphyrin-containing compound metabolic process; response to hypoxia; response to antibiotic; response to arsenic-containing substance; digestive tract development; hydrogen peroxide biosynthetic process; response to hyperoxia; maternal process involved in parturition; hepatocyte differe | 15q24.1 |
| CYP1A2 | methylation; hydrogen peroxide biosynthetic process; monocarboxylic acid metabolic process; drug catabolic process; exogenous drug catabolic process; small molecule metabolic process; cellular respiration; heterocycle metabolic process; oxidation-reduction process; oxidative demethylation; oxidative deethylation; lung development; dibenzo-p-dioxin metabolic process; drug metabolic process; monoterpenoid metabolic process; regulation of gene expression; alkaloid metabolic process; post-embryonic development; toxin biosynthetic process; xenobiotic metabolic process; porphyrin-containing compound metabolic process; cellular aromatic compound metabolic process; steroid catabolic process | 15q24.1 |
| CYP1B1 | retina vasculature development in camera-type eye; oxidation-reduction process; small molecule metabolic process; endothelial cell migration; response to organic substance; response to toxin; toxin metabolic process; estrogen metabolic process; visual perception; xenobiotic metabolic process; endothelial cell-cell adhesion; cellular aromatic compound metabolic process; angiogenesis | 2p22.2 |
| CYP1B1-AS1 | - | 2p22.2 |
| CYP1D1P | - | 9q21.13 |
| CYP20A1 | - | 2q33.2 |
| CYP21A2 | cellular response to peptide hormone stimulus; response to antibiotic; small molecule metabolic process; progesterone metabolic process; steroid metabolic process; xenobiotic metabolic process; mineralocorticoid biosynthetic process; glucocorticoid biosynthetic process; steroid biosynthetic process | 6p21.3 |
| CYP24A1 | oxidation-reduction process; osteoblast differentiation; vitamin metabolic process; xenobiotic metabolic process; steroid metabolic process; vitamin D receptor signaling pathway; response to vitamin D; small molecule metabolic process; vitamin D catabolic process; vitamin D 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 | proximal/distal pattern formation; positive regulation of tongue muscle cell differentiation; xenobiotic metabolic process; male meiosis; spermatogenesis; vitamin metabolic process; cell fate determination; positive regulation of gene expression; embryonic limb morphogenesis; retinoic acid catabolic process; small molecule metabolic process; cellular response to retinoic acid; tongue morphogenesis; oxidation-reduction process; negative regulation of retinoic acid receptor signaling pathway | 2p13.2 |
| CYP26C1 | oxidation-reduction process; vitamin metabolic process; negative regulation of retinoic acid receptor signaling pathway; xenobiotic metabolic process; organelle fusion; central nervous system development; anterior/posterior pattern specification; small molecule metabolic process; retinoic acid catabolic process; neural crest cell development | 10q23.33 |
| CYP27A1 | small molecule metabolic process; bile acid metabolic process; cholesterol metabolic process; xenobiotic metabolic process; bile acid biosynthetic process | 2q33-qter |
| CYP27B1 | vitamin D biosynthetic process; vitamin D catabolic process; decidualization; response to estrogen stimulus; positive regulation of keratinocyte differentiation; small molecule metabolic process; response to tumor necrosis factor; vitamin D metabolic process; calcium ion homeostasis; G1 to G0 transition; positive regulation of vitamin D receptor signaling pathway; vitamin metabolic process; xenobiotic metabolic process; calcium ion transport; steroid metabolic process; negative regulation of cell proliferation; positive regulation of vitamin D 24-hydroxylase activity; response to interferon-gamma; negative regulation of calcidiol 1-monooxygenase activity; response to vitamin D; response to lipopolysaccharide; negative regulation of cell growth; bone mineralization; regulation of bone mineralization | 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 | monoterpenoid metabolic process; drug metabolic process; exogenous drug catabolic process; small molecule metabolic process; heterocycle metabolic process; oxidation-reduction process; xenobiotic metabolic process; steroid metabolic process | 10q24 |
| CYP2C8 | small molecule metabolic process; oxidative demethylation; oxidation-reduction process; exogenous drug catabolic process; drug metabolic process; xenobiotic metabolic process; organic acid metabolic process | 10q23.33 |
| CYP2C9 | oxidative demethylation; oxidation-reduction process; small molecule metabolic process; cellular amide metabolic process; exogenous drug catabolic process; monocarboxylic acid metabolic process; urea metabolic process; drug metabolic process; monoterpenoid metabolic process; steroid metabolic process; drug catabolic process; xenobiotic metabolic process | 10q24 |
| CYP2D6 | drug metabolic process; negative regulation of cellular organofluorine metabolic process; oxidative demethylation; oxidation-reduction process; negative regulation of binding; heterocycle metabolic process; small molecule metabolic process; drug catabolic process; isoquinoline alkaloid metabolic process; monoterpenoid metabolic process; alkaloid catabolic process; alkaloid metabolic process; coumarin metabolic process; steroid metabolic process; xenobiotic metabolic process | 22q13.1 |
| CYP2D8P1 | - | 22q13.2 |
| CYP2E1 | oxidation-reduction process; heterocycle metabolic process; small molecule metabolic process; monoterpenoid metabolic process; steroid metabolic process; xenobiotic metabolic process; drug metabolic process | 10q26.3 |
| CYP2F1 | xenobiotic metabolic process; response to toxin; naphthalene metabolic process; small molecule metabolic process; oxidation-reduction process | 19q13.2 |
| CYP2F1P | - | 19q13.2 |
| CYP2G1P | oxidation-reduction process | 19q13.2 |
| CYP2J2 | epoxygenase P450 pathway; small molecule metabolic process; linoleic acid metabolic process; regulation of heart contraction; xenobiotic metabolic process; icosanoid metabolic process | 1p31.3-p31.2 |
| CYP2R1 | small molecule metabolic process; vitamin D metabolic process; response to ionizing radiation; response to cesium ion; steroid metabolic process; vitamin metabolic process; xenobiotic metabolic process | 11p15.2 |
| CYP2S1 | small molecule metabolic process; oxidation-reduction process; xenobiotic metabolic process | 19q13.1 |
| CYP2T2P | - | 19q13.2 |
| CYP2T3P | - | 19q13.2 |
| CYP2U1 | xenobiotic metabolic process; small molecule metabolic process | 4q25 |
| CYP2W1 | xenobiotic metabolic process; small molecule metabolic process | 7p22.3 |
| CYP39A1 | bile acid catabolic process; bile acid metabolic process; digestion; xenobiotic metabolic process; cholesterol catabolic process; bile acid biosynthetic process; small molecule metabolic process | 6p21.1-p11.2 |
| CYP3A | - | 7q21.3-q22.1 |
| CYP3A4 | small molecule metabolic process; oxidative demethylation; oxidation-reduction process; heterocycle metabolic process; exogenous drug catabolic process; drug catabolic process; vitamin D metabolic process; drug metabolic process; monoterpenoid metabolic process; alkaloid catabolic process; androgen metabolic process; steroid metabolic process; xenobiotic metabolic process; steroid catabolic process; lipid metabolic process | 7q21.1 |
| CYP3A43 | xenobiotic metabolic process; small molecule metabolic process; oxidation-reduction process | 7q21.1 |
| CYP3A5 | small molecule metabolic process; drug catabolic process; alkaloid catabolic process; steroid metabolic process; xenobiotic metabolic process; oxidative demethylation | 7q21.1 |
| CYP3A7-CYP3A51P | - | 7q |
| CYP46A1 | xenobiotic metabolic process; nervous system development; cholesterol catabolic process; bile acid biosynthetic process; bile acid metabolic process; small molecule metabolic process | 14q32.1 |
| CYP4A22 | - | 1p33 |
| CYP4B1 | xenobiotic metabolic process; small molecule metabolic process | 1p34-p12 |
| CYP4F10P | - | 19p13.12 |
| CYP4F11 | small molecule metabolic process; xenobiotic metabolic process; inflammatory response; oxidation-reduction process | 19p13.1 |
| CYP4F12 | renal water homeostasis; small molecule metabolic process; vitamin K biosynthetic process; sodium ion homeostasis; vitamin E metabolic process; oxidation-reduction process; leukotriene B4 catabolic process; negative regulation of blood coagulation; epoxygenase P450 pathway; arachidonic acid metabolic process; drug metabolic process; xenobiotic metabolic process; pressure natriuresis; long-chain fatty acid metabolic process; very long-chain fatty acid metabolic process | 19p13.1 |
| CYP4F2 | negative regulation of blood coagulation; very long-chain fatty acid metabolic process; long-chain fatty acid metabolic process; renal water homeostasis; pressure natriuresis; icosanoid metabolic process; xenobiotic metabolic process; drug metabolic process; arachidonic acid metabolic process; epoxygenase P450 pathway; leukotriene B4 catabolic process; vitamin E metabolic process; vitamin K biosynthetic process; sodium ion homeostasis; oxidation-reduction process; small molecule metabolic process | 19p13.12 |
| CYP4F22 | - | 19p13.12 |
| CYP4F23P | - | - |
| CYP4F24P | - | 19p13.12 |
| CYP4F3 | leukotriene metabolic process; xenobiotic metabolic process; small molecule metabolic process; icosanoid metabolic process | 19p13.2 |
| CYP4F30P | - | 2q21.1 |
| CYP4F34P | - | - |
| CYP4F43P | - | 2q21.1 |
| CYP4F59P | - | 9p12 |
| CYP4F8 | icosanoid metabolic process; prostaglandin metabolic process; xenobiotic metabolic process; small molecule 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 | prostate gland epithelium morphogenesis; small molecule metabolic process; bile acid biosynthetic process; xenobiotic metabolic process; memory; circadian rhythm; cholesterol metabolic process; bile acid metabolic process; positive regulation of epithelial cell proliferation; response to drug; cell death; negative regulation of intracellular estrogen receptor signaling pathway; response to cAMP | 8q21.3 |
| CYP8B1 | small molecule metabolic process; bile acid metabolic process; xenobiotic metabolic process; bile acid biosynthetic process | 3p22.1 |
| CYR61 | positive regulation of cell-substrate adhesion; positive regulation of cell migration; extracellular matrix organization; positive regulation of phospholipase activity; anatomical structure morphogenesis; cell proliferation; chemotaxis; ventricular septum development; positive regulation of ceramide biosynthetic process; reactive oxygen species metabolic process; regulation of ERK1 and ERK2 cascade; positive regulation of cartilage development; labyrinthine layer blood vessel development; chorio-allantoic fusion; chondroblast differentiation; atrial septum morphogenesis; positive regulation of transcription from RNA polymerase II promoter; regulation of cell growth; intussusceptive angiogenesis; atrioventricular valve morphogenesis; apoptosis involved in heart morphogenesis; negative regulation of apoptotic process; positive regulation of apoptotic process; positive regulation of osteoblast proliferation; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regul | 1p22.3 |
| CYS1 | - | 2p25.1 |
| CYSLTR1 | chemotaxis; defense response; inflammatory response; elevation of cytosolic calcium ion concentration; respiratory gaseous exchange; calcium ion transport; positive regulation of vasoconstriction | Xq13.2-q21.1 |
| CYSLTR2 | immune response | 13q14.2 |
| CYSRT1 | - | 9q34.3 |
| CYSTM1 | - | 5q31.3 |
| CYTH1 | regulation of ARF protein signal transduction; vesicle-mediated transport; regulation of cell adhesion | 17q25 |
| CYTH2 | regulation of ARF protein signal transduction; endocytosis; regulation of cell adhesion; actin cytoskeleton organization | 19q13.33 |
| CYTH3 | regulation of ARF protein signal transduction; inositol phosphate-mediated signaling; vesicle-mediated transport; regulation of cell adhesion | 7p22.1 |
| CYTH4 | regulation of ARF protein signal transduction; regulation of cell adhesion | 22q12.3-q13.1 |
| CYTIP | regulation of cell adhesion | 2q11.2 |
| CYTL1 | chondrocyte differentiation; signal transduction; positive regulation of sequence-specific DNA binding transcription factor activity; chondroitin sulfate proteoglycan biosynthetic process; positive regulation of transcription from RNA polymerase II promoter | 4p16-p15 |
| CYYR1 | - | 21q21.2 |
| D21S2090E | - | - |
| D2HGDH | response to cobalt ion; 2-oxoglutarate metabolic process; response to manganese ion; response to calcium ion; response to zinc ion; small molecule metabolic process; cellular protein metabolic process; response to magnesium ion | 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 | pinocytosis; 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; positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway; negative regulation of cell growth; cell proliferation; cell morphogenesis involved in differentiation; excretion; in utero embryonic development; receptor-mediated endocytosis; negative regulation of protein binding; positive regulation of protein phosphorylation | 5p13 |
| DAB2IP | negative regulation of Ras protein signal transduction; negative regulation of fibroblast proliferation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of epithelial cell proliferation; regulation of small GTPase mediated signal transduction; apoptosis in response to endoplasmic reticulum stress; negative regulation of catenin import into nucleus; cellular response to tumor necrosis factor; positive regulation of JUN kinase activity; negative regulation of MAP kinase activity; negative regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of apoptotic process; negative regulation of epidermal growth factor receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; activation of JUN kinase activity; positive regulation of signal transduction; negative regulation of epithelial cell migration; negative regulation of epithelial to mesenchymal transition; negative regulation of NF-kappaB transcription factor activity; | 9q33.1-q33.3 |
| DACH1 | negative regulation of cell migration; negative regulation of transcription by competitive promoter binding; multicellular organismal development; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 13q22 |
| DACH2 | development of primary female sexual characteristics; multicellular organismal development; regulation of transcription, DNA-dependent | Xq21.3 |
| DACT1 | multicellular organismal development; Wnt receptor signaling pathway | 14q23.1 |
| DACT2 | - | 6q27 |
| DACT3 | - | 19q13.32 |
| DAD1 | protein glycosylation; apoptotic process; anti-apoptosis; blastocyst development; response to nutrient; protein N-linked glycosylation via asparagine; response to drug; post-translational protein modification; cellular protein metabolic process | 14q11.2 |
| DAG1 | negative regulation of protein kinase B signaling cascade; interspecies interaction between organisms; negative regulation of MAPK cascade; microtubule anchoring; negative regulation of cell migration; virus-host interaction; cytoskeletal anchoring at plasma membrane; NLS-bearing substrate import into nucleus; membrane protein ectodomain proteolysis | 3p21 |
| DAGLA | platelet activation; lipid catabolic process; cell death; blood coagulation | 11q12.2 |
| DAGLB | blood coagulation; lipid catabolic process; platelet activation | 7p22.1 |
| DALRD3 | arginyl-tRNA aminoacylation | 3p21.31 |
| DANCR | - | 4q12 |
| DAND5 | detection of nodal flow; ventricular septum development; atrial septum development; negative regulation of transforming growth factor beta receptor signaling pathway; determination of left/right asymmetry in lateral mesoderm; negative regulation of BMP signaling pathway; negative regulation of activin receptor signaling pathway; determination of heart left/right asymmetry | 19p13.2 |
| DAO | small molecule metabolic process; D-alanine catabolic process; proline catabolic process; cellular nitrogen compound metabolic process; D-serine catabolic process; glyoxylate metabolic process | 12q24 |
| DAOA | - | 13q33.2|13q34 |
| DAP | apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; 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 | 5p15.2 |
| DAP3 | apoptotic mitochondrial changes; induction of apoptosis by extracellular signals | 1q22 |
| DAP3P2 | - | 2q31.2 |
| DAPK1 | induction of apoptosis; apoptotic process; protein phosphorylation; regulation of N-methyl-D-aspartate selective glutamate receptor activity; protein autophosphorylation; regulation of apoptotic process; regulation of autophagy; induction of apoptosis by extracellular signals; intracellular protein kinase cascade; signal transduction; anti-apoptosis | 9q21.33 |
| DAPK1-IT1 | - | 9q21.33 |
| DAPK2 | anoikis; protein autophosphorylation; regulation of apoptotic process; induction of apoptosis; protein phosphorylation; regulation of autophagy; intracellular protein kinase cascade | 15q22.31 |
| DAPK3 | regulation of smooth muscle contraction; regulation of actin cytoskeleton reorganization; regulation of cell motility; positive regulation of canonical Wnt receptor signaling pathway; protein autophosphorylation; regulation of apoptotic process; neuron differentiation; chromatin modification; regulation of autophagy; intracellular protein kinase cascade; regulation of mitosis; induction of apoptosis; protein phosphorylation; regulation of transcription, DNA-dependent; cytokinesis | 19p13.3 |
| DAPL1 | apoptotic process; cell differentiation | 2q24.1 |
| DAPP1 | peptidyl-tyrosine dephosphorylation; protein dephosphorylation; signal transduction | 4q25-q27 |
| DARS | translation; gene expression; protein complex assembly; tRNA aminoacylation for protein translation; aspartyl-tRNA aminoacylation | 2q21.3 |
| DARS2 | mitochondrial asparaginyl-tRNA aminoacylation; tRNA aminoacylation; gene expression; tRNA aminoacylation for protein translation | 1q25.1 |
| DAW1 | - | 2q36.3 |
| DAXX | 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; apoptotic process; regulation of transcription, DNA-dependent; cytokinesis after mitosis | 6p21.3 |
| DAZ2 | spermatogenesis; multicellular organismal development; cell differentiation; single fertilization | Yq11.223 |
| DAZ4 | cell differentiation; spermatogenesis; multicellular organismal development | Yq11.223 |
| DAZAP1 | multicellular organismal development; spermatogenesis; cell differentiation | 19p13.3 |
| DAZAP2 | - | 12q12 |
| DAZAP2P1 | - | 2q33.1 |
| DAZL | regulation of translation; multicellular organismal development; germ cell development; spermatogenesis; cell differentiation; positive regulation of translational initiation | 3p24.3 |
| DBF4 | positive regulation of catalytic activity; DNA replication; mitotic cell cycle; M/G1 transition of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint | 7q21.3 |
| DBF4B | cell cycle | 17q21.31|17q21 |
| DBF4P1 | - | 10q21.3 |
| DBH | sensory perception of taste; small molecule metabolic process; cellular response to nicotine; cellular response to manganese ion; bone development; leukocyte migration; response to pain; behavioral response to ethanol; response to copper ion; octopamine metabolic process; positive regulation of vasoconstriction; cytokine production; response to peptide hormone stimulus; regulation of apoptotic process; maternal behavior; fear response; glucose homeostasis; catecholamine biosynthetic process; norepinephrine biosynthetic process; dopamine catabolic process; blood vessel remodeling; visual learning; response to iron ion; response to ozone; multicellular organismal aging; response to organic cyclic compound; response to estradiol stimulus; cellular nitrogen compound metabolic process; social behavior; regulation of cell proliferation; homoiothermy; locomotory behavior; response to amphetamine; memory; synaptic transmission; leukocyte mediated immunity | 9q34 |
| DBH-AS1 | - | 9q34.2 |
| DBI | transport | 2q12-q21 |
| DBIL5P | - | 17p13.3 |
| DBIP2 | - | 5q14.1 |
| DBIP3 | - | 16p13.3 |
| DBN1 | actin filament organization; multicellular organismal development; nervous system development; cell differentiation; regulation of neuronal synaptic plasticity; regulation of dendrite development | 5q35.3 |
| DBNDD1 | - | 16q24.3 |
| DBNDD2 | negative regulation of protein kinase activity | 20q13.12 |
| DBNL | endocytosis; apoptotic process; cellular component disassembly involved in apoptosis; activation of JUN kinase activity; Rac protein signal transduction | 7p13 |
| DBP | regulation of cell proliferation; rhythmic process; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 19q13.3 |
| DBR1 | RNA splicing, via transesterification reactions; nuclear mRNA splicing, via spliceosome | 3q22.3 |
| DBT | metabolic process; branched chain family amino acid catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process; fatty-acyl-CoA biosynthetic 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 | response to amphetamine; negative regulation of dendrite development; positive regulation of ERK1 and ERK2 cascade; negative regulation of collateral sprouting; regulation of apoptotic process; negative regulation of neuron projection development; positive regulation of neuron projection development; axon guidance; axonogenesis; multicellular organismal development; induction of apoptosis; apoptotic process | 18q21.3 |
| DCDC1 | intracellular signal transduction | 11p13 |
| DCDC2 | neuron migration; nervous system development; cellular defense response; intracellular signal transduction | 6p22.1 |
| DCDC2B | intracellular signal transduction | 1p35.1 |
| DCDC2C | intracellular signal transduction | 2p25.3 |
| DCDC5 | intracellular signal transduction | 11p14.1 |
| DCHS1 | cell adhesion; homophilic cell adhesion; calcium-dependent cell-cell adhesion | 11p15.4 |
| DCHS2 | cell adhesion; homophilic cell adhesion | 4q31.3 |
| DCK | purine base metabolic process; pyrimidine base metabolic process; pyrimidine nucleotide metabolic process; nucleotide biosynthetic process; drug metabolic process; pyrimidine nucleoside salvage; purine-containing compound salvage; small molecule metabolic process; deoxycytidine metabolic process; nucleobase-containing small molecule metabolic process | 4q13.3-q21.1 |
| DCLK1 | intracellular signal transduction; central nervous system development; protein phosphorylation; multicellular organismal development; nervous system development; response to virus; endosome transport; cell differentiation | 13q13 |
| DCLK2 | intracellular signal transduction | 4q31.3 |
| DCLK3 | - | 3p22.2 |
| DCLRE1A | cell cycle; DNA repair; mitosis; cell division | 10q25.1 |
| DCLRE1B | telomere maintenance; cell cycle checkpoint; DNA repair; telomeric loop formation; protection from non-homologous end joining at telomere; telomeric 3' overhang formation | 1p13.2 |
| DCLRE1C | B cell differentiation; telomere maintenance; double-strand break repair; DNA recombination; response to ionizing radiation; chromosome organization | 10p13 |
| DCN | kidney development; placenta development; skeletal muscle tissue development; aging; response to mechanical stimulus; organ morphogenesis; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; response to lipopolysaccharide; wound healing | 12q21.33 |
| DCP1A | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA metabolic process; RNA metabolic process; gene expression; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 3p21.1 |
| DCP1B | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA metabolic process; RNA metabolic process; gene expression; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 12p13.33 |
| DCP2 | gene expression; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; histone mRNA catabolic process; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; RNA metabolic process | 5q22.2 |
| DCPS | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; RNA metabolic process; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; deadenylation-dependent decapping of nuclear-transcribed mRNA; gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 11q24.2 |
| DCST1 | - | 1q22 |
| DCST2 | - | 1q22 |
| DCSTAMP | osteoclast differentiation | 8q23 |
| DCT | cell development; developmental pigmentation; ventricular zone neuroblast division; epidermis development; melanin biosynthetic process from tyrosine; positive regulation of neuroblast proliferation | 13q32 |
| DCTD | small molecule metabolic process; nucleobase-containing small molecule metabolic process; pyrimidine nucleoside biosynthetic process; nucleotide biosynthetic process; pyrimidine nucleotide metabolic process; pyrimidine base metabolic process | 4q35.1 |
| DCTN1 | G2/M transition of mitotic cell cycle; endoplasmic reticulum unfolded protein response; cell death; nervous system development; mitosis; transport; mitotic cell cycle; activation of signaling protein activity involved in unfolded protein response | 2p13 |
| DCTN2 | mitotic spindle organization; G2/M transition of mitotic cell cycle; mitotic cell cycle; microtubule-based process; mitosis; cell proliferation | 12q13.3 |
| DCTN3 | mitosis; microtubule-based process; cytokinesis; mitotic cell cycle; G2/M transition of mitotic cell cycle | 9p13 |
| DCTN4 | - | 5q31-q32 |
| DCTN5 | - | 16p12.2 |
| DCTN6 | - | 8p12-p11 |
| DCTPP1 | nucleoside triphosphate catabolic process; protein homotetramerization | 16p11.2 |
| DCUN1D1 | - | 3q26.3 |
| DCUN1D2 | - | 13q34 |
| DCUN1D3 | response to UV-C; response to gamma radiation; negative regulation of cell growth; positive regulation of apoptotic process; negative regulation of S phase of mitotic cell cycle | 16p12.3 |
| DCUN1D4 | - | 4q12 |
| DCUN1D5 | - | 11q22.3 |
| DCX | central nervous system development; response to electrical stimulus; dendrite morphogenesis; axon extension; intracellular signal transduction; cell differentiation; central nervous system projection neuron axonogenesis; brain development; axon guidance; nervous system development; multicellular organismal development; neuron migration | Xq22.3-q23 |
| DCXR | NADP metabolic process; D-xylose metabolic process; carbohydrate metabolic process; xylulose metabolic process; glucose metabolic process; protein homotetramerization; oxidation-reduction process | 17q25.3 |
| DDA1 | - | 19p13.11 |
| DDAH1 | regulation of systemic arterial blood pressure; positive regulation of angiogenesis; positive regulation of nitric oxide biosynthetic process; nitric oxide mediated signal transduction; arginine catabolic process; arginine metabolic process; citrulline metabolic process | 1p22 |
| DDAH2 | anti-apoptosis; citrulline metabolic process; arginine catabolic process; positive regulation of nitric oxide biosynthetic process; nitric oxide mediated signal transduction; nitric oxide biosynthetic process | 6p21.3 |
| DDB1 | cell cycle checkpoint; interspecies interaction between organisms; proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; Wnt receptor signaling pathway; nucleotide-excision repair; DNA repair; nucleotide-excision repair, DNA damage removal | 11q12-q13 |
| DDB2 | pyrimidine dimer repair; protein autoubiquitination; protein polyubiquitination; nucleotide-excision repair, DNA damage removal; DNA repair; nucleotide-excision repair; response to UV | 11p12-p11 |
| DDC | cellular response to growth factor stimulus; circadian rhythm; cellular response to alkaloid; phytoalexin metabolic process; response to pyrethroid; indolalkylamine biosynthetic process; small molecule metabolic process; serotonin biosynthetic process; catecholamine biosynthetic process; cellular response to drug; cellular nitrogen compound metabolic process; isoquinoline alkaloid metabolic process; synaptic vesicle amine transport; multicellular organismal aging; response to toxin; cellular amino acid metabolic process; dopamine biosynthetic process | 7p12.2 |
| DDHD1 | lipid catabolic process | 14q21 |
| DDHD2 | lipid catabolic process | 8p11.23 |
| DDI2 | proteolysis | 1p36.21 |
| DDIAS | cell cycle arrest; cell cycle; apoptotic process | 11q14.1 |
| DDIT3 | negative regulation of canonical Wnt receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; cell redox homeostasis; regulation of transcription involved in anterior/posterior axis specification; regulation of DNA-dependent transcription in response to stress; negative regulation of sequence-specific DNA binding transcription factor activity; mRNA transcription from RNA polymerase II promoter; response to endoplasmic reticulum stress; endoplasmic reticulum unfolded protein response; cell cycle arrest; cell cycle; activation of signaling protein activity involved in unfolded protein response; response to DNA damage stimulus; regulation of transcription, DNA-dependent; negative regulation of determination of dorsal identity | 12q13.1-q13.2 |
| DDIT4 | negative regulation of TOR signaling cascade; protein complex disassembly; negative regulation of glycolysis; reactive oxygen species metabolic process; apoptotic process; response to hypoxia | 10q22.1 |
| DDIT4L | negative regulation of signal transduction | 4q24 |
| DDN | - | 12q13.12 |
| DDO | hormone metabolic process; insemination; grooming behavior; aspartate catabolic process; aspartate metabolic process | 6q21 |
| DDOST | response to cytokine stimulus; translation; protein glycosylation; protein N-linked glycosylation; SRP-dependent cotranslational protein targeting to membrane; gene expression; protein N-linked glycosylation via asparagine; innate immune response; cellular protein metabolic process; post-translational protein modification; T cell activation | 1p36.1 |
| DDR1 | regulation of extracellular matrix disassembly; organ regeneration; collagen-activated tyrosine kinase receptor signaling pathway; peptidyl-tyrosine autophosphorylation; ear development; skin development; smooth muscle cell migration; smooth muscle cell-matrix adhesion; embryo implantation; cell adhesion; regulation of cell-matrix adhesion; regulation of cell growth; mammary gland alveolus development; branching involved in mammary gland duct morphogenesis; protein autophosphorylation; wound healing, spreading of cells; negative regulation of cell proliferation | 6p21.3 |
| DDR2 | chondrocyte proliferation; positive regulation of extracellular matrix disassembly; positive regulation of sequence-specific DNA binding transcription factor activity; protein autophosphorylation; positive regulation of protein kinase activity; positive regulation of osteoblast differentiation; collagen-activated tyrosine kinase receptor signaling pathway; regulation of bone mineralization; peptidyl-tyrosine phosphorylation; positive regulation of fibroblast migration; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; positive regulation of fibroblast proliferation; cell adhesion; endochondral bone growth; ossification; regulation of extracellular matrix disassembly | 1q23.3 |
| DDRGK1 | - | 20p13 |
| DDT | melanin biosynthetic process | 22q11.23 |
| DDTL | - | 22q11.23 |
| DDX1 | regulation of translational initiation; nucleic acid phosphodiester bond hydrolysis; DNA duplex unwinding; multicellular organismal development; mRNA processing; regulation of transcription, DNA-dependent; double-strand break repair; spliceosome assembly | 2p24 |
| DDX10 | - | 11q22-q23 |
| DDX10P2 | - | 9q21.32 |
| DDX11 | sister chromatid cohesion; DNA duplex unwinding; 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; positive regulation of cell proliferation; endoplasmic reticulum unfolded protein response; interspecies interaction between organisms | 12p11 |
| DDX11-AS1 | - | - |
| DDX11L2 | - | 2q13 |
| DDX12P | nucleobase-containing compound metabolic process; cell cycle | 12p13.31 |
| DDX17 | RNA processing; positive regulation of transcription from RNA polymerase II promoter; regulation of skeletal muscle cell differentiation; positive regulation of intracellular estrogen receptor signaling pathway | 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 | mRNA export from nucleus; protein transport | 16q22.1 |
| DDX20 | RNA processing; positive regulation of apoptotic process; ncRNA metabolic process; RNA metabolic process; gene expression; RNA splicing; induction of apoptosis; mRNA processing; negative regulation of transcription from RNA polymerase II promoter; spliceosomal snRNP assembly; assembly of spliceosomal tri-snRNP | 1p21.1-p13.2 |
| DDX21 | - | 10q21 |
| DDX23 | RNA splicing; cis assembly of pre-catalytic spliceosome; gene expression; RNA splicing, via transesterification reactions; nuclear mRNA splicing, via spliceosome | 12q13.12 |
| DDX24 | RNA metabolic process | 14q32 |
| DDX25 | multicellular organismal development; cell differentiation; spermatid development; spermatogenesis; mRNA export from nucleus; regulation of translation; transport | 11q24 |
| DDX26B | - | Xq26.3 |
| DDX27 | - | 20q13.13 |
| DDX28 | - | 16q22.1 |
| DDX31 | - | 9q34.13 |
| DDX39A | nuclear mRNA splicing, via spliceosome; mRNA export from nucleus; RNA splicing | 19p13.12 |
| DDX39B | RNA splicing; nuclear mRNA splicing, via spliceosome; spliceosome assembly; mRNA export from nucleus; RNA secondary structure unwinding; transport; intronless viral mRNA export from host nucleus | 6p21.3 |
| DDX39BP2 | - | 6p21.33 |
| DDX3X | interspecies interaction between organisms | Xp11.3-p11.23 |
| DDX3Y | - | Yq11 |
| DDX3YP1 | - | Xq13.2 |
| DDX3YP3 | - | 4q24 |
| DDX4 | sperm motility; multicellular organismal development | 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 | RNA splicing; mRNA processing | 5q31.1 |
| DDX47 | rRNA processing; mRNA processing; apoptotic process; RNA splicing | 12p13.1 |
| DDX49 | - | 19p12 |
| DDX5 | positive regulation of intracellular estrogen receptor signaling pathway; cell growth; negative regulation of transcription from RNA polymerase II promoter; regulation of alternative nuclear mRNA splicing, via spliceosome; nuclear mRNA splicing, via spliceosome; RNA splicing; positive regulation of DNA damage response, signal transduction by p53 class mediator; regulation of osteoblast differentiation; positive regulation of transcription from RNA polymerase II promoter; regulation of androgen receptor signaling pathway; signal transduction by p53 class mediator resulting in induction of apoptosis; regulation of skeletal muscle cell differentiation | 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 | innate immune response; positive regulation of transcription from RNA polymerase II promoter; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of interferon-beta production; positive regulation of interferon-alpha production; negative regulation of type I interferon production; detection of virus; positive regulation of defense response to virus by host; positive regulation of transcription factor import into nucleus | 9p12 |
| DDX59 | - | 1q32.1 |
| DDX6 | gene expression; 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 | 11q23.3 |
| DDX60 | response to virus | 4q32.3 |
| DDX60L | - | 4q32.3 |
| DDX6P1 | - | 6p22.1 |
| DEAF1 | regulation of mammary gland epithelial cell proliferation; germ cell development; embryonic skeletal system development; nervous system development; neural tube closure; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; anatomical structure morphogenesis; multicellular organismal 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 | induction of apoptosis; spermatogenesis; induction of apoptosis via death domain receptors; negative regulation of transcription, DNA-dependent; regulation of apoptotic process | 1q23.3 |
| DEDD2 | apoptotic nuclear change; induction of apoptosis via death domain receptors; activation of pro-apoptotic gene products; RNA processing; cellular homeostasis; negative regulation of transcription, DNA-dependent; rRNA catabolic process; regulation of apoptotic process; intracellular signal transduction | 19q13.2 |
| DEF6 | - | 6p21.33-p21.1 |
| DEF8 | intracellular signal transduction | 16q24.3 |
| DEFA1 | - | 8p23.1 |
| DEFA10P | - | 8p23.1 |
| DEFA3 | response to virus; defense response to fungus; innate immune response; defense response to bacterium; killing of cells of other organism | 8p23.1 |
| DEFA4 | killing of cells of other organism; defense response to bacterium; innate immune response; defense response to fungus | 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 | chemotaxis; acute inflammatory response; immune response; G-protein coupled receptor signaling pathway; response to bacterium; response to testosterone stimulus; defense response to bacterium; innate immune response | 8p23.1 |
| DEFB103A | positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria; defense response to bacterium; 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 | innate immune response; defense response to bacterium | 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 | sphingolipid biosynthetic process; unsaturated fatty acid biosynthetic process; sphingolipid metabolic process; small molecule metabolic process | 1q42.11 |
| DEGS2 | small molecule metabolic process; sphingolipid biosynthetic process; sphinganine metabolic process; ceramide biosynthetic process; sphingolipid metabolic process; fatty acid biosynthetic 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 | negative regulation of transcription, DNA-dependent; intracellular signal transduction | 1p31.2 |
| DEPDC1-AS1 | - | - |
| DEPDC1B | regulation of small GTPase mediated signal transduction; 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 protein kinase activity; negative regulation of TOR signaling cascade; intracellular signal transduction; regulation of apoptotic process; negative regulation of cell size | 8q24.12 |
| DERA | deoxyribonucleotide catabolic process; deoxyribonucleoside catabolic process | 12p12.3 |
| DERL1 | endoplasmic reticulum unfolded protein response; retrograde protein transport, ER to cytosol; ER-associated protein catabolic process; interspecies interaction between organisms; response to unfolded protein; establishment of protein localization; protein transport; intracellular transport of viral proteins in host cell | 8q24.13 |
| DERL2 | positive regulation of cell proliferation; retrograde protein transport, ER to cytosol; endoplasmic reticulum unfolded protein response; ER-associated protein catabolic process; positive regulation of cell growth; response to unfolded protein | 17p13.2 |
| DERL3 | ER-associated protein catabolic process; endoplasmic reticulum unfolded protein response | 22q11.23 |
| DES | regulation of heart contraction; muscle filament sliding; muscle contraction; cytoskeleton organization | 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 chromosome condensation; DNA fragmentation involved in apoptotic nuclear change; apoptotic process; induction of apoptosis; cellular component disassembly involved in apoptosis; metabolic process; intracellular signal transduction | 1p36.3 |
| DFNA5 | sensory perception of sound; inner ear receptor cell differentiation | 7p15 |
| DFNB31 | sensory perception of sound; retina homeostasis; sensory perception of light stimulus; inner ear receptor stereocilium organization | 9q32 |
| DFNB59 | sensory perception of sound | 2q31.2 |
| DGAT1 | small molecule metabolic process; long-chain fatty-acyl-CoA metabolic process; triglyceride biosynthetic process; triglyceride metabolic process; lipid storage; insulin secretion; cellular lipid metabolic process; very-low-density lipoprotein particle assembly; diacylglycerol metabolic process; glycerolipid metabolic process | 8q24.3 |
| DGAT2 | glycerol metabolic process; lipid biosynthetic process; triglyceride biosynthetic process; lipid storage; low-density lipoprotein particle clearance; long-chain fatty-acyl-CoA metabolic process; cellular triglyceride homeostasis; cholesterol homeostasis; cellular lipid metabolic process; small molecule metabolic process; diacylglycerol metabolic process; fatty acid homeostasis; fat pad development; cellular response to oleic acid; regulation of plasma lipoprotein particle levels | 11q13.5 |
| DGAT2L6 | lipid biosynthetic process | Xq13.1 |
| DGCR10 | - | 22q11 |
| DGCR11 | - | 22q11.21 |
| DGCR12 | - | 22q11.21 |
| DGCR2 | organ morphogenesis; cell adhesion | 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 | platelet activation; intracellular signal transduction; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; blood coagulation | 12q13.3 |
| DGKB | intracellular signal transduction; platelet activation; blood coagulation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway | 7p21.2 |
| DGKD | response to organic substance; 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; diacylglycerol metabolic process; protein homooligomerization | 2q37.1 |
| DGKE | phospholipid biosynthetic process; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; blood coagulation; intracellular signal transduction; platelet activation | 17q22 |
| DGKG | intracellular signal transduction; signal transduction; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; blood coagulation; platelet activation; neuron development | 3q27.2-q27.3 |
| DGKH | activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; blood coagulation; platelet activation; intracellular signal transduction; protein oligomerization | 13q14.11 |
| DGKI | positive regulation of Ras protein signal transduction; negative regulation of catalytic activity; intracellular signal transduction; regulation of Rap GTPase activity; platelet activation; blood coagulation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway | 7q32.3-q33 |
| DGKK | platelet activation; diacylglycerol metabolic process; blood coagulation; intracellular signal transduction; response to oxidative stress; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway | Xp11.22 |
| DGKQ | activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; G-protein coupled receptor signaling pathway; protein kinase C signaling cascade; thrombin receptor signaling pathway; intracellular signal transduction; response to ATP; platelet activation; cAMP-mediated signaling; blood coagulation | 4p16.3 |
| DGKZ | lipid phosphorylation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; blood coagulation; cell migration; platelet activation; mitotic cell cycle G1/S transition DNA damage checkpoint; intracellular signal transduction; negative regulation of mitotic cell cycle; negative regulation of Ras protein signal transduction | 11p11.2 |
| DGKZP1 | - | 13q14.11 |
| DGUOK | nucleobase-containing compound 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; guanosine metabolic process; protein phosphorylation; purine base metabolic process | 2p13 |
| DGUOK-AS1 | - | - |
| DHCR24 | cell cycle arrest; plasminogen activation; Ras protein signal transduction; protein localization; negative regulation of cell proliferation; tissue development; cellular membrane organization; male genitalia development; amyloid precursor protein catabolic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; neuroprotection; skin development; small molecule metabolic process; anti-apoptosis; apoptotic process; cholesterol biosynthetic process; response to oxidative stress | 1p32.3 |
| DHCR7 | cell differentiation; blood vessel development; cholesterol biosynthetic process; post-embryonic development; lung development; multicellular organism growth; regulation of cell proliferation; small molecule metabolic process; regulation of cholesterol biosynthetic process | 11q13.4 |
| DHDDS | - | 1p36.11 |
| DHDH | D-xylose catabolic process; carbohydrate metabolic process | 19q13.3 |
| DHFR | - | 5q11.2-q13.2 |
| DHFRL1 | thymidine biosynthetic process; nucleotide biosynthetic process; one-carbon metabolic process; glycine biosynthetic process; tetrahydrofolate metabolic process | 3q11.1 |
| DHFRP1 | tetrahydrofolate metabolic process; folic acid metabolic process; response to methotrexate; regulation of nitric-oxide synthase activity; regulation of transcription involved in G1/S phase of mitotic cell cycle; mitotic cell cycle; glycine biosynthetic process; one-carbon metabolic process; nucleotide biosynthetic process; small molecule metabolic process; water-soluble vitamin metabolic process; vitamin metabolic process; G1/S transition of mitotic cell cycle; nitric oxide metabolic process | 18q11.2 |
| DHODH | 'de novo' pyrimidine base biosynthetic process; pyrimidine nucleotide biosynthetic process; UMP biosynthetic process; positive regulation of apoptotic process; small molecule metabolic process; pyrimidine nucleoside biosynthetic process; nucleobase-containing small molecule metabolic process; regulation of mitochondrial fission; pyrimidine base metabolic process | 16q22 |
| DHPS | positive regulation of cell proliferation; peptidyl-lysine modification to hypusine; post-translational protein modification; protein homotetramerization; translation; deoxyhypusine biosynthetic process from spermidine, using deoxyhypusine synthase; cellular protein metabolic process | 19p13.2 |
| DHRS1 | - | 14q12 |
| DHRS11 | - | 17q12 |
| DHRS12 | - | 13q14.3 |
| DHRS13 | - | 17q11.2 |
| DHRS2 | oxidation-reduction process; negative regulation of cell proliferation; response to toxin; negative regulation of apoptotic process; cellular response to oxidative stress; myeloid dendritic cell differentiation; C21-steroid hormone metabolic process | 14q11.2 |
| DHRS3 | retinol metabolic process; visual perception | 1p36.1 |
| DHRS4-AS1 | - | 14q11.2 |
| DHRS4L1 | - | 14q11.2 |
| DHRS4L2 | - | 14q11.2 |
| DHRS7 | - | 14q23.1 |
| DHRS7B | - | 17p12 |
| DHRS9 | retinol metabolic process; androgen metabolic process; 9-cis-retinoic acid biosynthetic process; progesterone metabolic process; epithelial cell differentiation | 2q31.1 |
| DHRSX | - | Xp22.33; Yp11.2 |
| DHTKD1 | tricarboxylic acid cycle; glycolysis | 10p14 |
| DHX15 | mRNA processing; RNA splicing | 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 | RNA splicing; mRNA 3'-end processing; mRNA export from nucleus; gene expression; nuclear mRNA splicing, via spliceosome; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter | 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 | gene expression; CRD-mediated mRNA stabilization; cellular response to heat; RNA splicing; nuclear mRNA splicing, via spliceosome | 1q25 |
| DHX9P1 | - | 13q21 |
| DIABLO | induction of apoptosis via death domain receptors; intrinsic apoptotic signaling pathway; apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis by oxidative stress; induction of apoptosis by intracellular signals | 12q24.31 |
| DIAPH1 | cellular component organization; sensory perception of sound; cytoskeleton organization; cellular response to histamine; regulation of release of sequestered calcium ion into cytosol; protein localization to microtubule; regulation of microtubule-based process; neuron projection development; actin filament polymerization; actin cytoskeleton organization; regulation of cell shape | 5q31 |
| DIAPH2 | cytokinesis; multicellular organismal development; female gamete generation; cellular component organization; actin cytoskeleton organization; actin filament polymerization; cell differentiation; oogenesis | Xq21.33 |
| DIAPH3 | cellular component organization; actin cytoskeleton organization | 13q21.2 |
| DIAPH3-AS1 | - | - |
| DIAPH3-AS2 | - | - |
| DICER1 | defense response to virus; spindle assembly; cardiac muscle cell development; intestinal epithelial cell development; regulation of enamel mineralization; branching morphogenesis of a tube; nerve development; spleen development; positive regulation of transcription from RNA polymerase II promoter; regulation of neuron differentiation; digestive tract development; neuron projection morphogenesis; regulation of cell differentiation; negative regulation of transcription from RNA polymerase II promoter; regulation of viral genome replication; negative regulation of apoptotic process; regulation of odontogenesis of dentin-containing tooth; cerebral cortex development; positive regulation of gene expression; gene silencing by RNA; multicellular organism growth; negative regulation of Schwann cell proliferation; targeting of mRNA for destruction involved in RNA interference; production of siRNA involved in RNA interference; zygote asymmetric cell division; lung development; positive regulation of Schwann cell differ | 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; hormone biosynthetic process; small molecule metabolic process; cellular nitrogen compound 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 | cellular nitrogen compound metabolic process; small molecule metabolic process; hormone biosynthetic 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 | signal transduction; small GTPase mediated signal transduction | 19p13.3 |
| DIRAS2 | small GTPase mediated signal transduction; signal transduction | 9q22.2 |
| DIRAS3 | regulation of cyclin-dependent protein kinase activity; GTP catabolic process; regulation of gene expression by genetic imprinting; signal transduction; small GTPase mediated signal transduction | 1p31 |
| DIRC1 | - | 2q33 |
| DIRC2 | transport | 3q21.1 |
| DIRC3 | - | 2q35 |
| DIS3 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; rRNA processing; gene expression; RNA metabolic process; mRNA metabolic process; CUT catabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; rRNA catabolic process | 13q22.1 |
| DIS3L | rRNA catabolic process | 15q22.31 |
| DIS3L2 | - | 2q37.1 |
| DISC1 | microtubule cytoskeleton organization; positive regulation of neuroblast proliferation; multicellular organismal development; neuron migration; nervous system development; positive regulation of Wnt receptor signaling pathway | 1q42.1 |
| DISC1-IT1 | - | 1q42.2 |
| DISC1FP1 | - | 11q14.3 |
| DISP1 | dorsal/ventral pattern formation; embryonic pattern specification; peptide transport; determination of left/right symmetry; regulation of protein secretion; diaphragm development; protein homotrimerization; smoothened signaling pathway; patched ligand maturation | 1q41 |
| DISP2 | smoothened signaling pathway | 15q15.1 |
| DIXDC1 | Wnt receptor signaling pathway, planar cell polarity pathway; negative regulation of neuron differentiation; positive regulation of axonogenesis; regulation of JNK cascade; regulation of microtubule cytoskeleton organization; positive regulation of canonical Wnt receptor signaling pathway; camera-type eye development; cell cycle; multicellular organismal development; cerebellar cortex development; cerebral cortex radially oriented cell migration; forebrain ventricular zone progenitor cell division; forebrain development; regulation of actin cytoskeleton organization | 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 | multicellular organismal development; negative regulation of protein complex assembly; endoderm formation; Wnt receptor signaling pathway involved in somitogenesis; response to retinoic acid; negative regulation of canonical Wnt receptor signaling pathway; positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway; mesoderm formation; negative regulation of peptidyl-serine phosphorylation; face morphogenesis; negative regulation of skeletal muscle tissue development; negative regulation of transcription from RNA polymerase II promoter; cell morphogenesis involved in differentiation; forebrain development; negative regulation of BMP signaling pathway; embryonic limb morphogenesis; signal transduction; hair follicle development; regulation of receptor internalization | 10q11.2 |
| DKK2 | multicellular organismal development; negative regulation of canonical Wnt receptor signaling pathway; positive regulation of canonical Wnt receptor signaling pathway | 4q25 |
| DKK3 | adrenal gland development; negative regulation of aldosterone biosynthetic process; negative regulation of transcription, DNA-dependent; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of cortisol biosynthetic process; anatomical structure morphogenesis; multicellular organismal development | 11p15.2 |
| DKK4 | multicellular organismal development; negative regulation of Wnt receptor signaling pathway | 8p11.2-p11.1 |
| DKKL1 | signal transduction; anatomical structure morphogenesis; positive regulation of fat cell differentiation | 19q13.33 |
| DKKL1P1 | - | 20q11.21 |
| DLAT | glycolysis; acetyl-CoA biosynthetic process; pyruvate metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; sleep; small molecule metabolic process | 11q23.1 |
| DLC1 | actin cytoskeleton organization; negative regulation of cell migration; hindbrain morphogenesis; regulation of cell shape; negative regulation of cell proliferation; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; negative regulation of stress fiber assembly; activation of phospholipase C activity; signal transduction; negative regulation of Rho protein signal transduction; neural tube closure; regulation of actin cytoskeleton organization; cellular response to insulin stimulus; small GTPase mediated signal transduction; positive regulation of Rho GTPase activity; heart morphogenesis; forebrain development; regulation of small GTPase mediated signal transduction; focal adhesion assembly; positive regulation of protein dephosphorylation | 8p22 |
| DLD | small molecule metabolic process; cell redox homeostasis; sperm capacitation; dihydrolipoamide metabolic process; regulation of membrane potential; cellular nitrogen compound metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; lipoate metabolic process; branched chain family amino acid catabolic process; gastrulation; lysine catabolic process; proteolysis; mitochondrial electron transport, NADH to ubiquinone; 2-oxoglutarate metabolic process; pyruvate metabolic process; tricarboxylic acid cycle; aging | 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; tight junction assembly; cortical actin cytoskeleton organization; cell-cell adhesion; axon guidance; synaptic transmission; establishment or maintenance of cell polarity; actin filament organization; endothelial cell proliferation; interspecies interaction between organisms; negative regulation of mitotic cell cycle; protein localization in plasma membrane | 3q29 |
| DLG2 | synaptic transmission; negative regulation of phosphatase activity; sensory perception of pain; receptor clustering; neuronal ion channel clustering | 11q14.1 |
| DLG3 | synaptic transmission; axon guidance; negative regulation of cell proliferation; negative regulation of phosphatase activity | Xq13.1 |
| DLG3-AS1 | - | - |
| DLG4 | nervous system development; axon guidance; synaptic transmission; signal transduction; protein complex assembly; learning; protein localization to synapse; establishment of protein localization; receptor localization to synapse; alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate receptor clustering; dendritic spine morphogenesis | 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 | mitotic chromosome movement towards spindle pole; M phase of mitotic cell cycle; cell cycle; positive regulation of mitotic metaphase/anaphase transition; cell proliferation; cell-cell signaling | 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 | negative regulation of neuron differentiation; negative regulation of myeloid cell differentiation; somite specification; cell-cell signaling; inner ear development; regulation of neurogenesis; proximal tubule development; multicellular organismal development; loop of Henle development; neuronal stem cell maintenance; Notch receptor processing; cell fate determination; negative regulation of auditory receptor cell differentiation; determination of left/right symmetry; compartment pattern specification; hemopoiesis; cell differentiation; regulation of cell adhesion; Notch signaling pathway | 6q27 |
| DLL3 | somitogenesis; negative regulation of astrocyte differentiation; paraxial mesoderm development; skeletal system development; negative regulation of Notch signaling pathway; positive regulation of neurogenesis; negative regulation of neurogenesis; cell differentiation; multicellular organismal development; compartment pattern specification; central nervous system development; tissue development | 19q13 |
| DLL4 | angiogenesis; signal transduction; regulation of neurogenesis; negative regulation of blood vessel endothelial cell migration; cell differentiation; blood circulation; multicellular organismal development; Notch receptor processing; Notch signaling pathway | 15q14 |
| DLST | cellular nitrogen compound metabolic process; generation of precursor metabolites and energy; tricarboxylic acid cycle; 2-oxoglutarate metabolic process; lysine catabolic process; NADH metabolic process; metabolic process; small molecule metabolic process | 14q24.3 |
| DLSTP1 | - | 1p31 |
| DLX1 | cell differentiation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of oligodendrocyte differentiation; embryonic skeletal system development; negative regulation of neuron apoptosis; odontogenesis of dentin-containing tooth; 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; proximal/distal pattern formation; multicellular organismal development | 2q32 |
| DLX2 | cerebral cortex GABAergic interneuron fate commitment; cartilage development; branching morphogenesis of a nerve; 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; regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; brain development; proximal/distal pattern formation; hippocampus development; olfactory bulb development; forebrain neuron differentiation | 2q32 |
| DLX3 | blood vessel development; placenta development; regulation of transcription, DNA-dependent; multicellular organismal development | 17q21 |
| DLX4 | regulation of transcription, DNA-dependent; multicellular organismal development | 17q21.33 |
| DLX5 | cell proliferation; axon guidance; nervous system development; multicellular organismal development; endochondral ossification; osteoblast differentiation; skeletal system development; epithelial cell differentiation; palate development; embryonic limb morphogenesis; specification of segmental identity, mandibular segment; inner ear morphogenesis; ear development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of osteoblast differentiation; anatomical structure formation involved in morphogenesis; positive regulation of epithelial cell proliferation; positive regulation of canonical Wnt receptor signaling pathway; bone morphogenesis; face morphogenesis; head development; olfactory pit development | 7q22 |
| DLX6 | specification of segmental identity, mandibular segment; nervous system development; embryonic limb morphogenesis; multicellular organismal development; regulation of transcription, DNA-dependent; epithelial cell differentiation; skeletal system development; head development; palate development; positive regulation of epithelial cell proliferation; anatomical structure formation involved in morphogenesis; inner ear morphogenesis | 7q22 |
| DLX6-AS1 | - | 7q21.3 |
| DMAP1 | chromatin modification; histone H4 acetylation; histone H2A acetylation; regulation of growth; DNA methylation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription factor import into nucleus; negative regulation of transcription, DNA-dependent | 1p34 |
| DMBT1 | tissue regeneration; response to organic substance; response to virus; response to wounding; multicellular organismal development; pattern recognition receptor signaling pathway; inner cell mass cell proliferation; blastocyst development; protein transport; epithelial cell differentiation; positive regulation of epithelial cell differentiation; 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 | pachytene; ovarian follicle development; female gamete generation; cell cycle; oocyte maturation; DNA metabolic process; spermatid development; male meiosis I; spermatogenesis; reciprocal meiotic recombination; meiosis | 22q13.1 |
| DMD | neuron projection morphogenesis; muscle organ development; skeletal muscle tissue development; olfactory nerve structural organization; muscle filament sliding; peptide biosynthetic process; neurotransmitter receptor metabolic process; muscle cell homeostasis; regulation of transcription, DNA-dependent | Xp21.2 |
| DMGDH | choline metabolic process; glycine catabolic process; glycine metabolic process | 5q14.1 |
| DMKN | - | 19q13.12 |
| DMPK | muscle cell apoptosis; regulation of sodium ion transport; protein phosphorylation; regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction; regulation of myotube differentiation; regulation of heart contraction; nuclear envelope organization; cellular calcium ion homeostasis | 19q13.3 |
| DMRT1 | intracellular signal transduction; male gonad development; sex differentiation; sex determination; multicellular organismal development; cell differentiation; regulation of transcription, DNA-dependent | 9p24.3 |
| DMRT2 | regulation of transcription, DNA-dependent; sex determination; male gonad development; sex differentiation | 9p24.3 |
| DMRT3 | multicellular organismal development; sex differentiation; cell differentiation; regulation of transcription, DNA-dependent | 9p24.3 |
| DMRTA1 | cell differentiation; sex differentiation; regulation of transcription, DNA-dependent | 9p21.3 |
| DMRTA2 | regulation of transcription, DNA-dependent; sex differentiation | 1p32.3 |
| DMRTB1 | regulation of transcription, DNA-dependent; sex differentiation | 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 | cell cycle; regulation of transcription, DNA-dependent | 7q21 |
| DMTN | - | 8p21.1 |
| DMWD | meiosis | 19q13.3 |
| DMXL1 | - | 5q22 |
| DMXL2 | - | 15q21.2 |
| DNA2 | ATP catabolic process; DNA replication, removal of RNA primer; mitochondrial DNA repair; positive regulation of DNA replication; base-excision repair; S phase of mitotic cell cycle; mitotic cell cycle; telomere maintenance via recombination; telomere maintenance; DNA strand elongation involved in DNA replication; mitochondrial DNA replication; telomere maintenance via semi-conservative replication | 10q21.3-q22.1 |
| DNAAF1 | axonemal dynein complex assembly; cilium morphogenesis | 16q24.1 |
| DNAAF2 | axonemal dynein complex assembly; flagellar cell motility; ciliary cell motility; response to chemical stimulus; response to retinoic acid | 14q21.3 |
| DNAAF3 | - | 19q13.4 |
| DNAAF5 | - | 7p22.3 |
| DNAH1 | ciliary or flagellar motility; response to mechanical stimulus; microtubule-based movement | 3p21.1 |
| DNAH10 | microtubule-based movement | 12q24.31 |
| DNAH10OS | - | 12q24.31 |
| DNAH11 | microtubule-based movement; ciliary or flagellar motility; 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 | microtubule-based movement; ciliary or flagellar motility | 17p13.1 |
| DNAH3 | microtubule-based movement; ciliary or flagellar motility | 16p12.3 |
| DNAH5 | microtubule-based movement; ciliary or flagellar motility; metabolic process | 5p15.2 |
| DNAH6 | microtubule-based movement | 2p11.2 |
| DNAH7 | microtubule-based movement; ciliary or flagellar motility | 2q32.3 |
| DNAH8 | microtubule-based movement; ciliary or flagellar motility | 6p21.2 |
| DNAH9 | spermatogenesis; cell projection organization; cellular component movement; microtubule-based movement | 17p12 |
| DNAI1 | cell projection organization | 9p13.3 |
| DNAI2 | cilium assembly; cell projection organization | 17q25 |
| DNAJA1 | androgen receptor signaling pathway; sperm motility; response to heat; spermatogenesis; response to unfolded protein; protein folding | 9p13.3 |
| DNAJA1P3 | - | Xq22.3 |
| DNAJA1P5 | - | 1p22 |
| DNAJA2 | response to heat; positive regulation of cell proliferation; protein folding | 16q12.1 |
| DNAJA3 | apoptotic process; negative regulation of protein kinase activity; embryo development; protein folding; mitochondrial DNA replication; negative regulation of transcription from RNA polymerase II promoter; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of apoptotic process; positive regulation of T cell proliferation; response to interferon-gamma; T cell differentiation in thymus; cell death; positive regulation of protein ubiquitination; negative regulation of NF-kappaB transcription factor activity; skeletal muscle acetylcholine-gated channel clustering; regulation of catalytic activity; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of apoptotic process; activation-induced cell death of T cells; protein stabilization; response to heat; negative regulation of interferon-gamma-mediated signaling pathway; negative regulation of cell pro | 16p13.3 |
| DNAJA4 | response to heat; protein folding | 15q25.1 |
| DNAJB1 | chaperone cofactor-dependent protein refolding; chaperone mediated protein folding requiring cofactor; response to unfolded protein; response to stress; protein folding | 19p13.2 |
| DNAJB11 | protein folding; activation of signaling protein activity involved in unfolded protein response; mRNA modification; endoplasmic reticulum unfolded protein response | 3q27.3 |
| DNAJB12 | protein folding | 10q22.1 |
| DNAJB13 | protein folding; apoptotic process; spermatogenesis | 11q13.4 |
| DNAJB14 | protein folding | 4q23 |
| DNAJB2 | positive regulation of protein ubiquitination; negative regulation of protein deubiquitination; negative regulation of inclusion body assembly; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; ER-associated protein catabolic process; negative regulation of cell growth; negative regulation of cell proliferation; response to unfolded protein; protein folding | 2q32-q34 |
| DNAJB4 | response to heat; response to unfolded protein; protein folding | 1p31.1 |
| DNAJB5 | negative regulation of transcription from RNA polymerase II promoter; protein folding; response to unfolded protein | 9p13.3 |
| DNAJB5-AS1 | - | - |
| DNAJB6 | positive regulation of ATPase activity; intermediate filament organization; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; response to unfolded protein; protein folding | 7q36.3 |
| DNAJB7 | protein folding | 22q13.2 |
| DNAJB8-AS1 | - | 3q21.3 |
| DNAJB9 | protein folding; endoplasmic reticulum unfolded protein response; ER-associated protein catabolic process; activation of signaling protein activity involved in unfolded protein response | 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 | oxidation-reduction process; response to endoplasmic reticulum stress; cell redox homeostasis; negative regulation of protein phosphorylation; protein folding; glycerol ether metabolic process; ER-associated protein catabolic process; positive regulation of ATPase activity; apoptosis in response to endoplasmic reticulum stress | 2q32.1 |
| DNAJC11 | protein folding | 1p36.31 |
| DNAJC12 | protein folding | 10q22.1 |
| DNAJC13 | - | 3q22.1 |
| DNAJC14 | protein transport; protein folding | 12q13.2 |
| DNAJC15 | - | 13q14.1 |
| DNAJC16 | protein folding; cell redox homeostasis | 1p36.1 |
| DNAJC17 | protein folding | 15q15.1 |
| DNAJC18 | protein folding | 5q31.2 |
| DNAJC19 | visual perception; genitalia development; protein transport; 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 | protein folding; small GTPase mediated signal transduction | 2p23.3 |
| DNAJC27-AS1 | - | 2p23.3 |
| DNAJC28 | - | 21q22.11 |
| DNAJC3 | activation of signaling protein activity involved in unfolded protein response; response to unfolded protein; protein folding; response to virus; endoplasmic reticulum unfolded protein response; proteolysis involved in cellular protein catabolic process | 13q32.1 |
| DNAJC3-AS1 | - | 13q32.1 |
| DNAJC30 | protein folding | 7q11.23 |
| DNAJC4 | protein folding; response to unfolded protein | 11q13 |
| DNAJC5 | protein folding; synaptic transmission; neurotransmitter secretion; cell death; negative regulation of neuron apoptosis | 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 | nuclear mRNA splicing, via spliceosome; protein folding; RNA splicing; gene expression | 1p35.3 |
| DNAJC8P1 | - | 14q13.2 |
| DNAJC9 | social behavior; protein folding | 10q22.2 |
| DNAJC9-AS1 | - | 10q22.2 |
| DNAL1 | - | 14q24.3 |
| DNAL4 | nerve growth factor receptor signaling pathway; microtubule-based movement | 22q13.1 |
| DNALI1 | single fertilization; cellular component movement | 1p35.1 |
| DNASE1 | apoptotic process; DNA catabolic process | 16p13.3 |
| DNASE1L1 | DNA catabolic process; DNA metabolic process | Xq28 |
| DNASE1L2 | DNA catabolic process; DNA metabolic process | 16p13.3 |
| DNASE1L3 | DNA catabolic process; DNA metabolic process; DNA fragmentation involved in apoptotic nuclear change; apoptotic process | 3p14.3 |
| DNASE2 | erythrocyte differentiation; metabolic process; multicellular organismal development; apoptotic process; DNA metabolic process; DNA catabolic process | 19p13.2 |
| DNASE2B | metabolic process; DNA metabolic process | 1p22.3 |
| DND1 | negative regulation of gene silencing by miRNA; germ cell development; multicellular organismal development | 5q31.3 |
| DND1P2 | - | 17q21.31 |
| DNER | endocytosis; neuron migration; Notch signaling pathway; Notch receptor processing; synapse assembly; central nervous system development; glial cell differentiation; skeletal muscle fiber development | 2q36.3 |
| DNHD1 | microtubule-based movement | 11p15.4 |
| DNLZ | - | 9q34.3 |
| DNM1 | GTP catabolic process; receptor-mediated endocytosis; endocytosis; endosome organization | 9q34 |
| DNM1L | dynamin polymerization involved in mitochondrial fission; apoptotic process; mitochondrial fragmentation involved in apoptosis; positive regulation of intrinsic apoptotic signaling pathway; peroxisome fission; positive regulation of mitochondrial fission; membrane fission involved in mitochondrial fission; positive regulation of protein secretion; cellular component disassembly involved in apoptosis | 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 | endocytosis; synaptic vesicle transport; positive regulation of transcription, DNA-dependent; positive regulation of apoptotic process; transferrin transport; receptor internalization; cellular membrane organization; signal transduction; post-Golgi vesicle-mediated transport; regulation of transcription, DNA-dependent; GTP catabolic process; G2/M transition of mitotic cell cycle | 19p13.2 |
| DNM3 | filopodium assembly; synapse assembly; endocytosis; GTP catabolic process | 1q24.3 |
| DNM3-IT1 | - | - |
| DNM3OS | - | 1q24.3 |
| DNMBP | regulation of Rho protein signal transduction; intracellular signal transduction | 10q24.2 |
| DNMBP-AS1 | - | 10q24.2 |
| DNMT1 | regulation of cell proliferation; negative regulation of transcription from RNA polymerase II promoter; C-5 methylation of cytosine; cellular response to amino acid stimulus; negative regulation of histone H3-K9 methylation; chromatin modification; positive regulation of histone H3-K4 methylation; maintenance of DNA methylation; positive regulation of gene expression; gene silencing; DNA methylation | 19p13.2 |
| DNMT3A | S-adenosylmethioninamine metabolic process; methylation-dependent chromatin silencing; regulation of gene expression by genetic imprinting; spermatogenesis; DNA methylation on cytosine within a CG sequence; chromatin modification; DNA methylation involved in embryo development; DNA methylation involved in gamete generation; hypermethylation of CpG island; S-adenosylhomocysteine metabolic process; cellular response to amino acid stimulus; C-5 methylation of cytosine; DNA methylation; negative regulation of transcription from RNA polymerase II promoter | 2p23 |
| DNMT3AP1 | - | 2p14 |
| DNMT3B | positive regulation of histone H3-K4 methylation; negative regulation of histone H3-K9 methylation; positive regulation of gene expression; protein complex localization; response to drug; DNA methylation involved in embryo development; positive regulation of neuron differentiation; S-adenosylmethioninamine metabolic process; S-adenosylhomocysteine metabolic process; negative regulation of gene expression, epigenetic; C-5 methylation of cytosine; cellular response to amino acid stimulus; DNA methylation on cytosine within a CG sequence; response to ionizing radiation; regulation of gene expression by genetic imprinting; methylation-dependent chromatin silencing; DNA methylation; negative regulation of transcription from RNA polymerase II promoter | 20q11.2 |
| DNMT3L | in utero embryonic development; negative regulation of transcription, DNA-dependent; DNA methylation; regulation of gene expression by genetic imprinting; spermatogenesis; positive regulation of catalytic activity | 21q22.3 |
| DNPEP | peptide metabolic process; proteolysis | 2q35 |
| DNPH1 | - | 6p21.1 |
| DNTT | DNA modification | 10q23-q24 |
| DNTTIP1 | - | 20q13.12 |
| DNTTIP2 | regulation of transcription, DNA-dependent | 1p22.1 |
| DOC2A | regulation of calcium ion-dependent exocytosis; synaptic vesicle exocytosis; nervous system development; synaptic transmission | 16p11.2 |
| DOC2B | exocytosis; calcium ion-dependent exocytosis of neurotransmitter; positive regulation of calcium ion-dependent exocytosis; positive regulation of insulin secretion; protein localization; positive regulation of vesicle fusion | 17p13.3 |
| DOC2GP | - | 11q13.2 |
| DOCK1 | phagocytosis, engulfment; apoptotic process; signal transduction; integrin-mediated signaling pathway; small GTPase mediated signal transduction; axon guidance; positive regulation of GTPase activity; cell migration; blood coagulation | 10q26.13-q26.3 |
| DOCK10 | regulation of catalytic activity | 2q36.2 |
| DOCK11 | regulation of catalytic activity; blood coagulation | Xq24 |
| DOCK11P1 | - | 14q21.2 |
| DOCK2 | chemotaxis; regulation of defense response to virus by virus; alpha-beta T cell proliferation; negative thymic T cell selection; positive thymic T cell selection; actin cytoskeleton organization; viral reproduction; membrane raft polarization; establishment of T cell polarity; immunological synapse formation | 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 | multicellular organismal development; microtubule cytoskeleton organization; nervous system development; axonogenesis; cell differentiation; neuron projection development; activation of Rac GTPase activity; positive regulation of peptidyl-serine phosphorylation; establishment of neuroblast polarity | 1p31.3 |
| DOCK8 | blood coagulation | 9p24.3 |
| DOCK9 | blood coagulation | 13q32.3 |
| DOCK9-AS1 | - | - |
| DOCK9-AS2 | - | 13q32.3 |
| DOHH | peptidyl-lysine modification to hypusine; post-translational protein modification; cellular protein metabolic process | 19p13.3 |
| DOK1 | signal transduction; cell surface receptor signaling pathway; transmembrane receptor protein tyrosine kinase signaling pathway; intracellular protein kinase cascade; Ras protein signal transduction; insulin receptor signaling pathway | 2p13 |
| DOK2 | blood coagulation; signal transduction; cell surface receptor signaling pathway; leukocyte migration; Ras protein signal transduction | 8p21.3 |
| DOK3 | Ras protein signal transduction | 5q35.3 |
| DOK4 | MAPK cascade; nervous system development; transmembrane receptor protein tyrosine kinase signaling pathway | 16q21 |
| DOK5 | nervous system development; transmembrane receptor protein tyrosine kinase signaling pathway; MAPK cascade | 20q13.2 |
| DOK6 | - | 18q22.2 |
| DOK7 | positive regulation of protein tyrosine kinase activity | 4p16.3 |
| DOLK | protein N-linked glycosylation via asparagine; cellular protein metabolic process; post-translational protein modification; dolichyl monophosphate biosynthetic process; dolichyl diphosphate biosynthetic process; dolichol-linked oligosaccharide biosynthetic process | 9q34.11 |
| DOLPP1 | protein N-linked glycosylation; post-translational protein modification; protein N-linked glycosylation via asparagine; dolichol-linked oligosaccharide biosynthetic process; dolichyl diphosphate biosynthetic process; cellular protein metabolic process | 9q34.1 |
| DONSON | multicellular organismal development | 21q22.1 |
| DOPEY1 | endoplasmic reticulum organization; protein transport; Golgi to endosome transport | 6q15 |
| DOPEY2 | endoplasmic reticulum organization; Golgi to endosome transport; multicellular organismal development; protein transport | 21q22.2 |
| DOT1L | regulation of transcription regulatory region DNA binding; regulation of JAK-STAT cascade; histone lysine methylation; chromatin modification | 19p13.3 |
| DPAGT1 | metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation; UDP-N-acetylglucosamine metabolic process; protein N-linked glycosylation via asparagine; dolichol biosynthetic process; post-translational protein modification; cellular protein metabolic process; protein oligomerization | 11q23.3 |
| DPCD | - | 10q24.32 |
| DPCR1 | - | 6p21.33 |
| DPEP1 | cellular response to calcium ion; cellular lactam catabolic process; cellular response to nitric oxide; homocysteine metabolic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; negative regulation of cell migration; antibiotic metabolic process; cellular response to drug; glutathione metabolic process; proteolysis | 16q24.3 |
| DPEP2 | proteolysis; prostanoid metabolic process; leukotriene biosynthetic process; small molecule metabolic process | 16q22.1 |
| DPEP3 | proteolysis; meiosis | 16q22.1 |
| DPF1 | regulation of transcription, DNA-dependent; induction of apoptosis; nervous system development | 19q13.2 |
| DPF2 | induction of apoptosis by extracellular signals; induction of apoptosis; apoptotic process; regulation of transcription, DNA-dependent | 11q13 |
| DPF3 | regulation of transcription, DNA-dependent; nervous system development; chromatin modification | 14q24.2 |
| DPH1 | peptidyl-diphthamide biosynthetic process from peptidyl-histidine; cell proliferation; translation | 17p13.3 |
| DPH2 | peptidyl-diphthamide biosynthetic process from peptidyl-histidine | 1p34 |
| DPH3 | negative regulation of protein secretion; peptidyl-diphthamide biosynthetic process from peptidyl-histidine; positive regulation of binding | 3p25.1 |
| DPH3P1 | - | 20q13.33 |
| DPH5 | metabolic process; peptidyl-diphthamide biosynthetic process from peptidyl-histidine | 1p21.2 |
| DPH6 | - | 15q14 |
| DPH7 | - | 9q34.3 |
| DPM1 | cellular protein metabolic process; post-translational protein modification; protein O-linked mannosylation; protein mannosylation; GDP-mannose metabolic process; dolichol metabolic process; protein N-linked glycosylation via asparagine; GPI anchor biosynthetic process; C-terminal protein lipidation; dolichol-linked oligosaccharide biosynthetic process | 20q13.13 |
| DPM2 | protein O-linked mannosylation; dolichol-linked oligosaccharide biosynthetic process; C-terminal protein lipidation; GPI anchor biosynthetic process; macromolecule biosynthetic process; preassembly of GPI anchor in ER membrane; protein N-linked glycosylation via asparagine; regulation of protein stability; cellular protein metabolic process; post-translational protein modification | 9q34.13 |
| DPM3 | regulation of protein stability; protein O-linked mannosylation; protein mannosylation; protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan; protein N-linked glycosylation via asparagine; GPI anchor biosynthetic process; C-terminal protein lipidation; dolichol-linked oligosaccharide biosynthetic process; carbohydrate metabolic process; post-translational protein modification; cellular protein metabolic process | 1q22 |
| DPP10 | proteolysis | 2q14.1 |
| DPP10-AS1 | - | 2q14.1 |
| DPP10-AS3 | - | 2q14.1 |
| DPP3 | proteolysis | 11q12-q13.1 |
| DPP4 | endothelial cell migration; response to hypoxia; regulation of T cell mediated immunity; proteolysis; cell adhesion; positive regulation of cell proliferation; negative regulation of extracellular matrix disassembly; T cell costimulation; regulation of cell-cell adhesion mediated by integrin; T cell activation; establishment of localization | 2q24.3 |
| DPP6 | proteolysis; cell death | 7q36.2 |
| DPP7 | proteolysis | 9q34.3 |
| DPP8 | proteolysis; immune response | 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 | cell differentiation; spermatid development; spermatogenesis; multicellular organismal development | 12q14.2 |
| DPY19L2P1 | - | 7p14.2 |
| DPY19L2P2 | - | 7q22.1 |
| DPY19L2P3 | - | 7p15.1 |
| DPY19L2P4 | - | 7q21.13 |
| DPY19L3 | - | 19q13.11 |
| DPY19L4 | - | 8q22.1 |
| DPY30 | chromatin modification; histone H3-K4 methylation; endosome transport; regulation of transcription, DNA-dependent | 2p22.3 |
| DPYD | pyrimidine base metabolic process; pyrimidine base catabolic process; thymine catabolic process; uracil catabolic process; thymidine catabolic process; UMP biosynthetic process; small molecule metabolic process; pyrimidine nucleoside catabolic process; nucleobase-containing small molecule metabolic process; purine base catabolic process | 1p22 |
| DPYD-IT1 | - | - |
| DPYS | nucleobase-containing small molecule metabolic process; pyrimidine base metabolic process; pyrimidine base catabolic process; thymine catabolic process; uracil catabolic process; beta-alanine metabolic process; small molecule metabolic process; pyrimidine nucleoside catabolic process; protein homotetramerization | 8q22 |
| DPYSL2 | spinal cord development; synaptic vesicle transport; cytoskeleton organization; signal transduction; multicellular organismal development; nervous system development; axon guidance; brain development; positive regulation of glutamate secretion; pyrimidine base catabolic process; olfactory bulb development; cell differentiation; response to cocaine; response to drug; regulation of neuron differentiation; nucleobase-containing compound metabolic process; response to amphetamine | 8p22-p21 |
| DPYSL3 | pyrimidine base catabolic process; axon guidance; positive regulation of neuron projection development; negative regulation of neuron projection development; negative regulation of cell migration; response to axon injury; actin filament bundle assembly; protein homooligomerization; positive regulation of filopodium assembly; actin crosslink formation; cellular response to cytokine stimulus | 5q32 |
| DPYSL4 | axon guidance; pyrimidine base catabolic process; nervous system development | 10q26 |
| DPYSL5 | nervous system development; signal transduction; pyrimidine base catabolic process; axon guidance; neuron differentiation | 2p23.3 |
| DQX1 | - | 2p13.1 |
| DR1 | histone H3 acetylation; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 1p22.1 |
| DRAIC | - | 15q23 |
| DRAM1 | apoptotic process; autophagy | 12q23.2 |
| DRAM2 | apoptotic process; induction of apoptosis | 1p13.3 |
| DRAP1 | negative regulation of transcription from RNA polymerase II promoter | 11q13.3 |
| DRAXIN | - | 1p36.22 |
| DRC1 | - | 2p23.3 |
| DRC3 | - | 17p11.2 |
| DRC7 | ciliary or flagellar motility; spermatogenesis; cell differentiation | 16q21 |
| DRD1 | positive regulation of release of sequestered calcium ion into cytosol; negative regulation of circadian sleep/wake cycle, sleep; dopamine metabolic process; eating behavior; positive regulation of potassium ion transport; regulation of ion transport; glucose import; sensitization; behavioral response to cocaine; regulation of long-term neuronal synaptic plasticity; long term synaptic depression; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; regulation of dopamine uptake; response to drug; positive regulation of synaptic transmission, glutamatergic; prepulse inhibition; activation of phospholipase C activity by dopamine receptor signaling pathway; long-term synaptic potentiation; mating behavior; synaptic transmission, dopaminergic; response to amphetamine; negative regulation of protein kinase activity; protein import into nucleus; adult walking behavior; locomotory behavior; grooming behavior; regulation of dopamine metabolic process; behav | 5q35.1 |
| DRD2 | positive regulation of renal sodium excretion; positive regulation of G-protein coupled receptor protein signaling pathway; regulation of phosphoprotein phosphatase activity; pigmentation; regulation of MAPK cascade; response to morphine; regulation of potassium ion transport; response to drug; dopamine metabolic process; negative regulation of circadian sleep/wake cycle, sleep; response to cocaine; positive regulation of multicellular organism growth; regulation of synaptic transmission, GABAergic; release of sequestered calcium ion into cytosol; positive regulation of ERK1 and ERK2 cascade; negative regulation of dopamine receptor signaling pathway; activation of phospholipase C activity by dopamine receptor signaling pathway; prepulse inhibition; positive regulation of growth hormone secretion; negative regulation of synaptic transmission, glutamatergic; negative regulation of calcium ion transport via voltage-gated calcium channel activity; negative regulation of protein kinase B signaling cascade; positi | 11q23 |
| DRD3 | response to drug; response to morphine; regulation of circadian sleep/wake cycle, sleep; response to ethanol; negative regulation of blood pressure; positive regulation of mitosis; positive regulation of transcription from RNA polymerase II promoter; acid secretion; behavioral response to cocaine; negative regulation of oligodendrocyte differentiation; visual learning; 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; response to cocaine; cellular calcium ion homeostasis; dopamine metabolic process; G-protein coupled receptor internalization; regulation of blood volume by renin-angiotensin; response to amphetamine; synaptic transmission, dopaminergic; negative regulation of transcription from RNA polymerase II promo | 3q13.3 |
| DRD4 | fear response; regulation of neurotransmitter secretion; behavioral response to cocaine; behavioral response to ethanol; arachidonic acid secretion; negative regulation of protein secretion; regulation of calcium-mediated signaling; positive regulation of dopamine uptake; negative regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of inhibitory postsynaptic membrane potential; positive regulation of sodium:hydrogen antiporter activity; regulation of dopamine metabolic process; activation of MAPK activity; behavioral fear response; synaptic transmission, dopaminergic; response to amphetamine; cellular calcium ion homeostasis; negative regulation of adenylate cyclase activity; inhibition of adenylate cyclase activity by dopamine receptor signaling pathway; dopamine receptor signaling pathway; adult locomotory behavior; dopamine metabolic process; social behavior; response to histamine; positive regulation of kinase activity; negative regulation of cAMP biosynthetic proces | 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; RNA processing; rRNA catabolic process; gene silencing by RNA | 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 | protein stabilization; cell adhesion; homophilic cell adhesion | 18q12.1 |
| DSCAM | positive regulation of axon extension involved in axon guidance; cell adhesion; negative regulation of cell adhesion; nervous system development; dendrite morphogenesis; positive regulation of phosphorylation; dendrite self-avoidance; post-embryonic retina morphogenesis in camera-type eye; locomotory behavior | 21q22.2 |
| DSCAM-AS1 | - | - |
| DSCAM-IT1 | - | - |
| DSCAML1 | homophilic cell adhesion; central nervous system development; dendrite self-avoidance; dorsal/ventral pattern formation; brain development; embryonic skeletal system morphogenesis; axonogenesis; negative regulation of cell adhesion; cell fate determination | 11q23 |
| DSCC1 | post-translational protein acetylation; maintenance of mitotic sister chromatid cohesion; cell cycle; 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 | homophilic cell adhesion; execution phase of apoptosis; cellular component disassembly involved in apoptosis; apoptotic process; cell adhesion | 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 | mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; chromosome segregation; cell division | 20q11.23 |
| DSP | cellular component disassembly involved in apoptosis; skin development; wound healing; adherens junction organization; keratinocyte differentiation; peptide cross-linking; cell-cell adhesion; epidermis development; apoptotic process | 6p24 |
| DSPP | multicellular organismal development; biomineral tissue development; cellular response to cell-matrix adhesion; skeletal system development; ossification | 4q21.3 |
| DST | cell motility; intracellular transport; intermediate filament cytoskeleton organization; hemidesmosome assembly; cytoplasmic microtubule organization; regulation of microtubule polymerization or depolymerization; maintenance of cell polarity; response to wounding; retrograde axon cargo transport; axonogenesis; cell adhesion; cell cycle arrest; cytoskeleton organization; microtubule cytoskeleton organization; integrin-mediated signaling pathway | 6p12.1 |
| DSTN | cytokinesis; actin filament severing; positive regulation of actin filament depolymerization; actin polymerization or depolymerization; cellular component movement | 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 | response to UV; DNA replication; ubiquitin-dependent protein catabolic process; regulation of cell cycle; G2/M transition DNA damage checkpoint; translesion synthesis; protein polyubiquitination; response to DNA damage stimulus; protein monoubiquitination | 1q32 |
| DTNA | neuromuscular synaptic transmission; synaptic transmission; signal transduction; striated muscle contraction | 18q12 |
| DTNB | - | 2p24 |
| DTNBP1 | actin cytoskeleton reorganization; regulation of dopamine receptor signaling pathway; platelet dense granule organization; response to stimulus; neuron projection morphogenesis; post-Golgi vesicle-mediated transport; organelle organization; blood coagulation; cellular membrane organization; neuron projection development | 6p22.3 |
| DTWD1 | - | 15q21.2 |
| DTWD2 | - | 5q23.1 |
| DTX1 | transcription from RNA polymerase II promoter; negative regulation of neuron differentiation; negative regulation of T cell differentiation; glial cell differentiation; regulation of Notch signaling pathway; cell surface receptor signaling pathway; transcription, DNA-dependent | 12q24.13 |
| DTX2 | Notch signaling pathway | 7q11.23 |
| DTX2P1-UPK3BP1-PMS2P11 | - | 7q11.23 |
| DTX3 | Notch signaling pathway | 12q13.3 |
| DTX3L | histone monoubiquitination; response to DNA damage stimulus; chromatin modification | 3q21.1 |
| DTX4 | Notch signaling pathway | 11q12.1 |
| DTYMK | dTDP biosynthetic process; cell cycle; cell proliferation; nucleobase-containing small molecule interconversion; small molecule metabolic process; nucleoside monophosphate phosphorylation; nucleobase-containing small molecule metabolic process; cellular response to growth factor stimulus | 2q37.3 |
| DUBR | - | 3q13.12 |
| DUOX1 | hydrogen peroxide catabolic process; hormone biosynthetic process; hydrogen peroxide biosynthetic process; superoxide anion generation; response to oxidative stress; cytokine-mediated signaling pathway; cuticle development; oxidation-reduction process; response to cAMP | 15q15.3 |
| DUOX2 | bone mineralization; response to oxidative stress; multicellular organism growth; fertilization; response to virus; cytokine-mediated signaling pathway; hydrogen peroxide catabolic process; inner ear development; oxidation-reduction process; thyroid hormone metabolic process; cuticle development; adenohypophysis morphogenesis; response to cAMP; hormone biosynthetic process; thyroid gland development | 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 | intracellular signal transduction; response to testosterone stimulus; cellular response to hormone stimulus; positive regulation of anti-apoptosis; response to retinoic acid; response to hydrogen peroxide; regulation of apoptotic process; positive regulation of apoptotic process; response to glucocorticoid stimulus; response to cAMP; response to calcium ion; response to light stimulus; cell cycle; response to oxidative stress; protein dephosphorylation; endoderm formation; inactivation of MAPK activity; response to estradiol stimulus | 5q34 |
| DUSP10 | negative regulation of respiratory burst involved in inflammatory response; negative regulation of JNK cascade; regulation of innate immune response; negative regulation of JUN kinase activity; negative regulation of stress-activated MAPK cascade; response to organic substance; JNK cascade; response to stress; protein dephosphorylation; regulation of adaptive immune response; inactivation of MAPK activity; response to lipopolysaccharide | 1q41 |
| DUSP11 | peptidyl-tyrosine dephosphorylation; RNA processing | 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; dephosphorylation; MAPK export from nucleus; MAPK phosphatase export from nucleus, leptomycin B sensitive; inactivation of MAPK activity | 12p13 |
| DUSP18 | peptidyl-tyrosine dephosphorylation | 22q12.2 |
| DUSP19 | positive regulation of protein phosphorylation; positive regulation of MAPK cascade; positive regulation of protein kinase activity; positive regulation of JUN kinase activity; JNK cascade; negative regulation of JUN kinase activity; protein dephosphorylation; negative regulation of protein kinase activity; inactivation of MAPK activity; negative regulation of JNK cascade; positive regulation of JNK cascade | 2q32.1 |
| DUSP2 | peptidyl-tyrosine dephosphorylation; endoderm formation; inactivation of MAPK activity; protein dephosphorylation; regulation of apoptotic process | 2q11 |
| DUSP21 | peptidyl-tyrosine dephosphorylation | Xp11.4-p11.23 |
| DUSP22 | multicellular organismal development; positive regulation of JNK cascade; inactivation of MAPK activity; regulation of cell proliferation; cell proliferation; protein dephosphorylation; apoptotic process; transforming growth factor beta receptor signaling pathway | 6p25.3 |
| DUSP23 | - | 1q23.2 |
| DUSP26 | protein dephosphorylation | 8p12 |
| DUSP27 | protein dephosphorylation | 1q22-q24 |
| DUSP28 | peptidyl-tyrosine dephosphorylation | 2q37.3 |
| DUSP3 | toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; 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; peptidyl-tyrosine dephosphorylation; TRIF-dependent toll-like receptor signaling pathway; negative regulation of MAPK cascade; innate immune response; positive regulation of mitotic cell cycle; 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; inactivation of MAPK activity; in utero embryonic development | 17q21 |
| DUSP4 | 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; Toll signaling pathway; protein dephosphorylation; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; endoderm formation; inactivation of MAPK activity; MAPK cascade; innate immune response; nerve growth factor receptor signaling pathway; stress-activated MAPK cascade | 8p12-p11 |
| DUSP5 | inactivation of MAPK activity; endoderm formation; protein dephosphorylation; peptidyl-tyrosine dephosphorylation; negative regulation of transcription, DNA-dependent | 10q25 |
| DUSP5P1 | - | 1q42.13 |
| DUSP6 | inactivation of MAPK activity; Toll signaling pathway; negative regulation of protein phosphorylation; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; response to organic cyclic compound; dorsal/ventral pattern formation; MyD88-independent toll-like receptor signaling pathway; cell differentiation; regulation of endodermal cell fate specification; 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; TRIF-dependent toll-like receptor signaling pathway; regulation of fibroblast growth factor receptor signaling pathway; response to drug; response to growth factor stimulus; positive regulation of apoptotic process; innate immune response; nerve growth factor receptor signaling pathway; stress-activated MAPK cascade; response to nitrosative stress; regulation of heart growth; negative regulation of ERK1 and ERK2 cascade | 12q22-q23 |
| DUSP7 | toll-like receptor signaling pathway; inactivation of MAPK activity; stress-activated MAPK cascade; nerve growth factor 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-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway | 3p21 |
| DUSP8 | peptidyl-tyrosine dephosphorylation; protein dephosphorylation; inactivation of MAPK activity | 11p15.5 |
| DUSP8P4 | - | 10q11.22 |
| DUSP9 | JNK cascade; protein dephosphorylation; inactivation of MAPK activity | Xq28 |
| DUT | small molecule metabolic process; DNA replication; pyrimidine base metabolic process; nucleobase-containing compound metabolic process; nucleotide metabolic process; dUTP metabolic process; pyrimidine nucleoside biosynthetic process; nucleobase-containing small molecule metabolic 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 | positive regulation of neuron projection development; social behavior; protein localization to nucleus; negative regulation of protein binding; cytoplasmic microtubule organization; positive regulation of Wnt receptor signaling pathway; intracellular signal transduction; convergent extension involved in neural plate elongation; neural tube development; dendrite morphogenesis; positive regulation of canonical Wnt receptor signaling pathway; planar cell polarity pathway involved in neural tube closure; cochlea morphogenesis; skeletal muscle acetylcholine-gated channel clustering; prepulse inhibition; Wnt receptor signaling pathway, planar cell polarity pathway; canonical Wnt receptor signaling pathway; convergent extension; synapse organization; protein localization to microtubule; receptor clustering; positive regulation of transcription, DNA-dependent; collateral sprouting; axon extension; heart development; neuromuscular junction development; regulation of neurotransmitter levels; negative regulation of prot | 1p36 |
| DVL2 | multicellular organismal development; transcription from RNA polymerase II promoter; intracellular signal transduction; segment specification; heart development; cell migration in hindbrain; convergent extension involved in neural plate elongation; cellular protein localization; outflow tract morphogenesis; 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; positive regulation of protein phosphorylation; neural tube closure; | 17p13.1 |
| DVL3 | positive regulation of protein phosphorylation; Wnt receptor signaling pathway; outflow tract septum morphogenesis; multicellular organismal development; intracellular signal transduction; 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 | G2/M transition of mitotic cell cycle; mitotic cell cycle; transport; microtubule-based movement; mitotic spindle organization; cytoplasmic mRNA processing body assembly; stress granule assembly | 14q32 |
| DYNC1I1 | transport; vesicle transport along microtubule | 7q21.3-q22.1 |
| DYNC1I2 | microtubule-based movement; interspecies interaction between organisms; transport; mitotic cell cycle; G2/M transition of mitotic cell cycle | 2q31.1 |
| DYNC1I2P1 | - | 10q11.23 |
| DYNC1LI1 | cell division; regulation of centrosome cycle; positive regulation of mitotic cell cycle spindle assembly checkpoint; interspecies interaction between organisms; mitosis; cell cycle; transport | 3p22.3 |
| DYNC1LI2 | transport | 16q22.1 |
| DYNC2H1 | cell projection organization; microtubule-based movement; Golgi organization; multicellular organismal development | 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; microtubule-based process; apoptotic process; transport; regulation of transcription, DNA-dependent; mitotic cell cycle; G2/M transition of mitotic cell cycle; anatomical structure morphogenesis; actin cytoskeleton organization; female gamete generation; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; negative regulation of phosphorylation | 12q24.23 |
| DYNLL1P1 | - | 14q31.1 |
| DYNLL1P2 | - | 14q31.1 |
| DYNLL2 | induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; microtubule-based process; synaptic target recognition; apoptotic process; transport | 17q22 |
| DYNLRB1 | transport; microtubule-based movement; visual behavior | 20q11.21 |
| DYNLRB2 | microtubule-based movement; transport | 16q23.3 |
| DYNLT1 | regulation of G-protein coupled receptor protein signaling pathway; nervous system development; mitosis; regulation of cytoskeleton organization; cell cycle; transport; establishment of mitotic spindle orientation; cell division; negative regulation of neurogenesis; neuron projection morphogenesis; interspecies interaction between organisms; regulation of Rac GTPase activity; intracellular transport of viral proteins in host cell | 6q25.2-q25.3 |
| DYNLT3 | transport; cell cycle; mitosis; regulation of mitotic cell cycle; cell division | Xp21 |
| DYNLT3P1 | - | 20p12.1 |
| DYNLT3P2 | - | - |
| DYRK1A | mitotic cell cycle; protein phosphorylation; nervous system development; peptidyl-tyrosine phosphorylation; protein autophosphorylation | 21q22.13 |
| DYRK1B | positive regulation of transcription, DNA-dependent; protein phosphorylation; myoblast fusion | 19q13.2 |
| DYRK2 | positive regulation of glycogen biosynthetic process; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; smoothened signaling pathway; response to DNA damage stimulus; apoptotic process; protein phosphorylation | 12q15 |
| DYRK3 | protein phosphorylation; erythrocyte differentiation | 1q32.1 |
| DYRK4 | protein phosphorylation | 12p13.32 |
| DYSF | - | 2p13.3 |
| DYTN | - | 2q33.3 |
| DYX1C1 | regulation of intracellular estrogen receptor signaling pathway; neuron migration; nervous system development; regulation of proteasomal protein catabolic process | 15q21.3 |
| DZANK1 | - | 20p11.23 |
| DZIP1 | germ cell development; spermatogenesis; cell differentiation; multicellular organismal development | 13q32.1 |
| DZIP1L | - | 3q22.3 |
| DZIP3 | protein polyubiquitination | 3q13.13 |
| E2F1 | positive regulation of gene expression; forebrain development; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of fibroblast proliferation; mRNA stabilization; regulation of cell cycle; cellular response to fatty acid; cellular response to hypoxia; spermatogenesis; negative regulation of transcription involved in G1/S phase of mitotic cell cycle; regulation of G1/S transition of mitotic cell cycle; cell proliferation; apoptotic process; regulation of transcription, DNA-dependent; mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; G2 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; DNA damage checkpoint | 20q11.2 |
| E2F2 | mitotic cell cycle; regulation of cell cycle; apoptotic process; transcription initiation from RNA polymerase II promoter; regulation of transcription, DNA-dependent; G1 phase of mitotic cell cycle | 1p36 |
| E2F3 | G1 phase of mitotic cell cycle; G2 phase of mitotic cell cycle; mitotic cell cycle; regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase II promoter; positive regulation of cell proliferation; positive regulation of transcription, DNA-dependent | 6p22 |
| E2F3-IT1 | - | - |
| E2F4 | regulation of cell size; organ morphogenesis; regulation of cell proliferation; cilium assembly; blood circulation; cell volume homeostasis; regulation of transcription, DNA-dependent; mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; G1 phase of mitotic cell cycle; epithelial cell development | 16q21-q22 |
| E2F4P1 | - | 6p21.2 |
| E2F5 | regulation of transcription, DNA-dependent; organ morphogenesis; mitotic cell cycle; G1 phase of mitotic cell cycle | 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 | negative regulation of cell proliferation; cell cycle | 12q21.2 |
| E2F8 | cell cycle | 11p15.1 |
| E4F1 | regulation of growth; interspecies interaction between organisms; cell cycle; cell division; regulation of cell cycle process; regulation of mitotic cell cycle, embryonic; embryo development; mitotic cell cycle arrest; cell proliferation; regulation of transcription, DNA-dependent; DNA replication; negative regulation of transcription from RNA polymerase II promoter; mitosis | 16p13.3 |
| EAF1 | regulation of transcription, DNA-dependent | 3p25.1 |
| EAF1-AS1 | - | - |
| EAF2 | apoptotic process; 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 | 3q13.33 |
| EAPP | positive regulation of cell proliferation; positive regulation of transcription elongation from RNA polymerase II promoter; negative regulation of transcription elongation from RNA polymerase II promoter | 14q13.1 |
| EARS2 | glutamyl-tRNA aminoacylation; gene expression; tRNA aminoacylation for mitochondrial protein translation; tRNA aminoacylation for protein translation | 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 alpha-beta T cell proliferation; T-helper 1 type immune response; positive regulation of interferon-gamma biosynthetic process; cytokine-mediated signaling pathway; humoral immune response | 19p13.3 |
| EBLN2 | - | 3p13 |
| EBLN3 | - | 9p13.2 |
| EBP | drug transmembrane transport; cholesterol biosynthetic process; skeletal system development; cholesterol metabolic process; hemopoiesis; small molecule metabolic process | Xp11.23-p11.22 |
| EBPL | sterol metabolic process | 13q12-q13 |
| ECD | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; regulation of glycolysis | 10q22.3 |
| ECE1 | ear development; heart development; positive regulation of G-protein coupled receptor protein signaling pathway; pharyngeal system development; embryonic digit morphogenesis; hormone catabolic process; endothelin maturation; regulation of vasoconstriction; peptide hormone processing; protein processing; calcitonin catabolic process; substance P catabolic process; bradykinin catabolic process; apoptotic process; proteolysis; regulation of systemic arterial blood pressure by endothelin; positive regulation of receptor recycling; response to hypoxia | 1p36.1 |
| ECE2 | proteolysis; cell-cell signaling; peptide hormone processing; cardioblast differentiation; heart development; brain development | 3q27.1|. |
| ECEL1 | intracellular signal transduction; metabolic process; neuropeptide signaling pathway; proteolysis | 2q37.1 |
| ECEL1P2 | - | 2q37.1 |
| ECEL1P3 | - | 2q37.1 |
| ECH1 | lipid metabolic process; fatty acid metabolic process | 19q13.1 |
| ECHDC1 | - | 6q22.33 |
| ECHDC2 | lipid metabolic process; fatty acid metabolic process | 1p32.3 |
| ECHDC3 | - | 10p14 |
| ECHS1 | small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation; fatty acid metabolic process | 10q26.2-q26.3 |
| ECI1 | fatty acid metabolic process; fatty acid beta-oxidation; cellular lipid metabolic process; small molecule metabolic process | 16p13.3 |
| ECI2 | fatty acid catabolic process | 6p24.3 |
| ECM1 | negative regulation of bone mineralization; positive regulation of angiogenesis; positive regulation of I-kappaB kinase/NF-kappaB cascade; biomineral tissue development; negative regulation of peptidase activity; ossification; positive regulation of endothelial cell proliferation; signal transduction | 1q21 |
| ECM2 | cell-matrix adhesion; positive regulation of cell-substrate adhesion; extracellular matrix organization | 9q22.3 |
| ECRP | - | 14q11.2 |
| ECSCR | chemotaxis; cell differentiation; angiogenesis; multicellular organismal development | 5q31.2 |
| ECSIT | regulation of oxidoreductase activity; innate immune response | 19p13.2 |
| ECT2 | positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of neuron differentiation; regulation of protein kinase activity; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; protein homooligomerization; cell division; regulation of attachment of spindle microtubules to kinetochore; cellular response to hydrogen peroxide; tight junction assembly; induction of apoptosis by extracellular signals; cellular response to calcium ion; cellular response to ionizing radiation; positive regulation of cell cycle cytokinesis; positive regulation of apoptotic process; cell morphogenesis; apoptotic process; cell cycle; signal transduction; small GTPase mediated signal transduction; nervous system development; 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 protein s | 3q26.1-q26.2 |
| ECT2L | regulation of Rho protein signal transduction | 6q24.1 |
| EDA | pigmentation; skin development; positive regulation of NF-kappaB transcription factor activity; hair follicle placode formation; trachea gland development; positive regulation of canonical Wnt receptor signaling pathway; salivary gland cavitation; odontogenesis of dentin-containing tooth; signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade; cell-matrix adhesion; multicellular organismal development; ectoderm development; gene expression; cell differentiation; immune response; positive regulation of NF-kappaB import into nucleus | Xq12-q13.1 |
| EDA2R | cell differentiation; tumor necrosis factor-mediated signaling pathway; positive regulation of JNK cascade; positive regulation of NF-kappaB transcription factor activity; embryo development; epidermis development | Xq12 |
| EDAR | apoptotic process; 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; salivary gland cavitation | 2q13 |
| EDARADD | hair follicle development; odontogenesis of dentin-containing tooth; cell differentiation; signal transduction; trachea gland development; multicellular organismal development | 1q42.3 |
| EDC3 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; RNA metabolic process | 15q24.1 |
| EDC4 | RNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression | 16q22.1 |
| EDEM1 | activation of signaling protein activity involved in unfolded protein response; response to unfolded protein; protein folding; post-translational protein modification; cellular protein metabolic process; endoplasmic reticulum unfolded protein response; ER-associated protein catabolic process; protein N-linked glycosylation via asparagine | 3p26.1 |
| EDEM2 | response to unfolded protein; protein N-linked glycosylation via asparagine; post-translational protein modification; protein folding; cellular protein metabolic process | 20q11.22 |
| EDEM3 | response to unfolded protein; protein N-linked glycosylation via asparagine; cellular protein metabolic process; post-translational protein modification; proteasomal ubiquitin-dependent protein catabolic process; protein folding; glycoprotein catabolic process | 1q25 |
| EDF1 | positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; multicellular organismal development; regulation of lipid metabolic process; cell differentiation; positive regulation of DNA binding; endothelial cell differentiation | 9q34.3 |
| EDIL3 | cell adhesion; multicellular organismal development; positive regulation of cell-substrate adhesion | 5q14 |
| EDN1 | positive regulation of cell size; response to lipopolysaccharide; positive regulation of nitric oxide biosynthetic process; leukocyte activation; positive regulation of JUN kinase activity; response to amino acid stimulus; rhythmic excitation; superoxide anion generation; response to drug; positive regulation of odontogenesis; middle ear morphogenesis; protein kinase C deactivation; vasoconstriction; epithelial fluid transport; positive regulation of renal sodium excretion; positive regulation of urine volume; response to nicotine; negative regulation of smooth muscle cell apoptosis; response to testosterone stimulus; positive regulation of MAP kinase activity; negative regulation of nitric-oxide synthase biosynthetic process; positive regulation of neutrophil chemotaxis; cellular response to tumor necrosis factor; cellular response to interleukin-1; positive regulation of chemokine-mediated signaling pathway; positive regulation of prostaglandin-endoperoxide synthase activity; positive regulation of sarcomer | 6p24.1 |
| EDN2 | cytokine-mediated signaling pathway; regulation of vasoconstriction; calcium-mediated signaling; neutrophil chemotaxis; macrophage activation; vasoconstriction; positive regulation of smooth muscle contraction; positive regulation of hormone secretion; negative regulation of hormone secretion; inositol phosphate-mediated signaling; macrophage chemotaxis; ovarian follicle rupture; positive regulation of prostaglandin-endoperoxide synthase activity; artery smooth muscle contraction; prostaglandin biosynthetic process; vein smooth muscle contraction; positive regulation of leukocyte chemotaxis; hormonal regulation of the force of heart contraction; positive regulation of the force of heart contraction by chemical signal; regulation of systemic arterial blood pressure by endothelin; cell surface receptor signaling pathway; elevation of cytosolic calcium ion concentration; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; regulation of blood pressure; positive regulat | 1p34 |
| EDN3 | regulation of vasoconstriction; peptide hormone secretion; neuron differentiation; vein smooth muscle contraction; 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; regulation of developmental pigmentation; positive regulation of heart rate; artery smooth muscle contraction; 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 | 20q13.2-q13.3 |
| EDNRA | fibroblast proliferation; artery smooth muscle contraction; response to morphine; penile erection; negative regulation of apoptotic process; positive regulation of odontogenesis; vasoconstriction; specification of segmental identity, mandibular segment; response to lipopolysaccharide; negative regulation of cAMP biosynthetic process; sensory perception of pain; glucose transport; positive regulation of cell proliferation; smooth muscle cell proliferation; regulation of epithelial cell proliferation; positive regulation of inflammatory response; positive regulation of release of sequestered calcium ion into cytosol; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; positive regulation of calcium ion transport; maternal process involved in parturition; head development; positive regulation of ERK1 and ERK2 cascade; cellular response to mechanical stimulus; positive regulation of neutrophil chemotaxis; positive regulation of kidney development; neur | 4q31.22 |
| EDNRB | posterior midgut development; regulation of blood pressure; negative regulation of neuron maturation; enteric nervous system development; melanocyte differentiation; negative regulation of cellular protein metabolic process; enteric smooth muscle cell differentiation; macrophage chemotaxis; developmental pigmentation; vasoconstriction; vein smooth muscle contraction; nervous system development; peripheral nervous system development; negative regulation of transcription from RNA polymerase II promoter; neural crest cell migration; regulation of pH; cell surface receptor signaling pathway; negative regulation of adenylate cyclase activity; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger | 13q22 |
| EDRF1 | regulation of transcription, DNA-dependent | 10q26.13 |
| EEA1 | synaptic vesicle to endosome fusion; vesicle fusion; endocytosis; early endosome to late endosome transport | 12q22 |
| EED | chromatin modification; histone methylation; negative regulation of transcription, DNA-dependent; regulation of gene expression by genetic imprinting | 11q14.2-q22.3 |
| EEF1A1 | cellular protein metabolic process; gene expression; regulation of transcription, DNA-dependent; translation; translational elongation | 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 | response to inorganic substance; anti-apoptosis; translation | 20q13.3 |
| EEF1B2 | cellular protein metabolic process; gene expression; translational elongation; translation | 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 | positive regulation of DNA damage response, signal transduction by p53 class mediator; positive regulation of apoptotic process; gene expression; negative regulation of cell proliferation; tRNA aminoacylation for protein translation | 6p24.3 |
| EEF1G | translation; response to virus; gene expression; cellular protein metabolic process; translational elongation | 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 | protein phosphorylation; translational elongation; insulin receptor signaling pathway; protein autophosphorylation; regulation of protein autophosphorylation | 16p12.2 |
| EEF2KMT | - | 16p13.3 |
| EEFSEC | selenocysteine incorporation; translational elongation; GTP catabolic process | 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 | regulation of transcription, DNA-dependent; epidermal growth factor receptor signaling pathway; 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 | negative regulation of epithelial to mesenchymal transition; activation of MAPK activity; notochord formation; cell migration; neuron differentiation; 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; cell-cell signaling; endocardial cushion to mesenchymal transition involved in heart valve formation; mitral valve morphogenesis; aortic valve morphogenesis; negative regulation of transcription from RNA polymerase II promoter; positive regulation of peptidyl-tyrosine phosphorylation; regulation of axonogenesis; negative regulation of dendritic spine morphogenesis | 1q21-q22 |
| EFNA2 | axon guidance; cell-cell signaling; olfactory bulb development; osteoclast differentiation; bone remodeling; ephrin receptor signaling pathway | 19p13.3 |
| EFNA3 | cell-cell signaling; ephrin receptor signaling pathway | 1q21-q22 |
| EFNA4 | cell-cell signaling | 1q21-q22 |
| EFNA5 | regulation of cell-cell adhesion; cell differentiation; brain development; regulation of Rho GTPase activity; regulation of actin cytoskeleton organization; regulation of Rac GTPase activity; retinal ganglion cell axon guidance; nervous system development; multicellular organismal development; apoptotic process; ephrin receptor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; regulation of focal adhesion assembly; regulation of insulin secretion involved in cellular response to glucose stimulus; regulation of microtubule cytoskeleton organization | 5q21 |
| EFNB1 | neural crest cell migration; positive regulation of T cell proliferation; cell differentiation; embryonic pattern specification; axon guidance; nervous system development; multicellular organismal development; cell-cell signaling; cell adhesion | Xq12 |
| EFNB2 | cell adhesion; regulation of chemotaxis; ephrin receptor signaling pathway; interspecies interaction between organisms; cell differentiation; organ morphogenesis; anatomical structure morphogenesis; nervous system development; multicellular organismal development; cell-cell signaling; Notch signaling pathway; cell migration involved in sprouting angiogenesis; lymph vessel development; angiogenesis | 13q33 |
| EFNB3 | cell differentiation; ephrin receptor signaling pathway; interspecies interaction between organisms; axon choice point recognition; nervous system development; adult walking behavior; 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; gene expression; RNA splicing; mRNA processing | 17q21.31 |
| EGF | positive regulation of catenin import into nucleus; ERK1 and ERK2 cascade; negative regulation of epidermal growth factor receptor signaling pathway; positive regulation of phosphorylation; positive regulation of DNA binding; positive regulation of MAP kinase activity; 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; platelet activation; positive regulation of cerebellar granule cell precursor proliferation; positive regulation of peptidyl-threonine phosphorylation; positive regulation of cell proliferation; blood coagulation; STAT protein import into nucleus; epidermal growth factor receptor signaling pathway; activation of transmembrane receptor protein tyrosine kinase activity; signal transduction; DNA replicatio | 4q25 |
| EGFEM1P | - | 3q26.2 |
| EGFL6 | cell adhesion; multicellular organismal development; cell differentiation; cell cycle | Xp22 |
| EGFL7 | multicellular organismal development; vasculogenesis; negative regulation of cell migration; blood vessel development; angiogenesis | 9q34.3 |
| EGFL8 | in utero embryonic development | 6p21.32 |
| EGFLAM | positive regulation of cell-substrate adhesion; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; extracellular matrix organization | 5p13.2-p13.1 |
| EGFLAM-AS4 | - | 5p13.2 |
| EGFR | positive regulation of catenin import into nucleus; negative regulation of protein catabolic process; negative regulation of epidermal growth factor receptor signaling pathway; positive regulation of phosphorylation; activation of phospholipase A2 activity by calcium-mediated signaling; negative regulation of apoptotic process; positive regulation of MAP kinase activity; positive regulation of nitric oxide biosynthetic process; positive regulation of DNA repair; positive regulation of DNA replication; protein autophosphorylation; positive regulation of fibroblast proliferation; 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; positive regulation of cell migration; cell morphogenesis; ossification; embryonic placenta development; hair fo | 7p12 |
| EGLN1 | ventricular septum morphogenesis; labyrinthine layer development; response to nitric oxide; regulation of angiogenesis; heart trabecula formation; negative regulation of sequence-specific DNA binding transcription factor activity; oxygen homeostasis; response to hypoxia; cardiac muscle tissue morphogenesis | 1q42.1 |
| EGLN2 | regulation of cell growth; response to hypoxia; intracellular estrogen receptor signaling pathway; regulation of neuron apoptosis; cell redox homeostasis; positive regulation of protein catabolic process | 19q13.2 |
| EGLN3 | protein hydroxylation; apoptotic process; response to hypoxia; regulation of cell proliferation; regulation of neuron apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process | 14q13.1 |
| EGOT | - | 3p26.1 |
| EGR1 | BMP signaling pathway; T cell differentiation; cytokine-mediated signaling pathway; response to glucose stimulus; learning or memory; transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; regulation of protein sumoylation; response to insulin stimulus; negative regulation of canonical Wnt receptor signaling pathway; positive regulation of glomerular metanephric mesangial cell proliferation; glomerular mesangial cell proliferation; cellular response to mycophenolic acid; cellular response to heparin; cellular response to gamma radiation; interleukin-1-mediated signaling pathway; type I interferon-mediated signaling pathway; regulation of long-term neuronal synaptic plasticity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent | 5q31.1 |
| EGR2 | rhombomere 5 formation; 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 3 formation; facial nerve structural organization; Schwann cell differentiation; 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; rhombomere 3 development | 10q21.1 |
| EGR3 | neuromuscular synaptic transmission; cellular response to fibroblast growth factor stimulus; negative regulation of apoptotic process; cellular response to vascular endothelial growth factor stimulus; endothelial cell chemotaxis; circadian rhythm; muscle organ development; peripheral nervous system development; regulation of transcription, DNA-dependent; cell migration involved in sprouting angiogenesis; positive regulation of endothelial cell proliferation | 8p23-p21 |
| EGR4 | regulation of transcription, DNA-dependent; positive regulation of cell proliferation | 2p13 |
| EHBP1 | - | 2p15 |
| EHBP1L1 | - | 11q13.1 |
| EHD1 | intracellular protein transport; endocytic recycling; low-density lipoprotein particle clearance; endocytosis; blood coagulation; positive regulation of cholesterol storage; cholesterol homeostasis; protein homooligomerization | 11q13 |
| EHD2 | endocytic recycling; cortical actin cytoskeleton organization; blood coagulation; endocytosis | 19q13.3 |
| EHD3 | protein homooligomerization; endocytic recycling; blood coagulation | 2p21 |
| EHD4 | positive regulation of peptidyl-tyrosine phosphorylation; endocytic recycling; protein homooligomerization; regulation of endocytosis; pinocytosis; cellular response to growth factor stimulus | 15q11.1 |
| EHF | epithelial cell differentiation; cell proliferation; multicellular organismal development; positive regulation of transcription, DNA-dependent | 11p12 |
| EHHADH | fatty acid beta-oxidation; internal protein amino acid acetylation; lipid metabolic process; fatty acid metabolic process | 3q26.3-q28 |
| EHMT1 | peptidyl-lysine dimethylation; histone lysine methylation; negative regulation of transcription, DNA-dependent; histone H3-K9 methylation; histone H3-K27 methylation; peptidyl-lysine monomethylation; histone methylation; chromatin modification; embryo development; DNA methylation; negative regulation of transcription from RNA polymerase II promoter | 9q34.3 |
| EHMT1-IT1 | - | 9q34.3 |
| EHMT2 | histone H3-K9 methylation; peptidyl-lysine dimethylation; organ growth; histone H3-K27 methylation; negative regulation of transcription from RNA polymerase II promoter; DNA methylation; chromatin modification; fertilization; spermatid development; pachytene; synaptonemal complex assembly | 6p21.31 |
| EI24 | autophagy; induction of apoptosis; negative regulation of cell growth; apoptotic process; response to drug | 11q24 |
| EI24P1 | - | 3q26.32 |
| EI24P2 | - | 1q23.1 |
| EID1 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; regulation of histone acetylation; cell differentiation; cell cycle | 15q21.1 |
| EID2 | multicellular organismal development; regulation of cell proliferation; negative regulation of transcription, DNA-dependent; regulation of transforming growth factor beta receptor signaling pathway; muscle organ development; transforming growth factor beta receptor complex assembly; negative regulation of transforming growth factor beta receptor signaling pathway; cell differentiation; SMAD protein complex assembly | 19q13.2 |
| EID2B | muscle organ development; cell differentiation; regulation of transcription, DNA-dependent; multicellular organismal 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 | translation; translational initiation; gene expression; cellular protein metabolic process | Xp22.12 |
| EIF1AY | - | Yq11.223 |
| EIF1B | regulation of translational initiation | 3p22.1 |
| EIF2A | translational initiation; ribosome assembly; SREBP-mediated signaling pathway; positive regulation of signal transduction; regulation of translation; protein phosphorylation | 3q25.1 |
| EIF2AK1 | protein autophosphorylation; response to stress; negative regulation of cell proliferation; response to external stimulus; regulation of eIF2 alpha phosphorylation by heme; negative regulation of translation; negative regulation of translational initiation by iron; negative regulation of hemoglobin biosynthetic process; protoporphyrinogen IX metabolic process | 7p22 |
| EIF2AK2 | virus-infected cell apoptosis; response to virus; virus-host interaction; modulation by virus of host cellular process; viral infectious cycle; negative regulation of cell proliferation; evasion by virus of host immune response; endoplasmic reticulum unfolded protein response; negative regulation of osteoblast proliferation; interspecies interaction between organisms; protein autophosphorylation; protein phosphorylation; translation | 2p22-p21 |
| EIF2AK3 | skeletal system development; ossification; chondrocyte development; protein phosphorylation; activation of cysteine-type endopeptidase activity involved in apoptotic process; response to stress; lactation; negative regulation of translational initiation in response to stress; negative regulation of myelination; endocrine pancreas development; endoplasmic reticulum unfolded protein response; bone mineralization; insulin secretion; calcium-mediated signaling; regulation of fatty acid metabolic process; positive regulation of protein binding; negative regulation of translation; positive regulation of signal transduction; SREBP-mediated signaling pathway; endoplasmic reticulum organization; activation of signaling protein activity involved in unfolded protein response; response to unfolded protein; ER overload response; response to endoplasmic reticulum stress; fat cell differentiation; protein homooligomerization; protein autophosphorylation; virus-infected cell apoptosis; insulin-like growth factor receptor sig | 2p12 |
| EIF2AK4 | negative regulation of translation; endoplasmic reticulum unfolded protein response; regulation of translational initiation in response to stress; protein phosphorylation; regulation of translational initiation; cellular response to starvation | 15q15.1 |
| EIF2AP4 | - | - |
| EIF2B1 | translation; translational initiation; regulation of translational initiation; response to heat; response to glucose stimulus; gene expression; oligodendrocyte development; response to peptide hormone stimulus; cellular metabolic process; cellular protein metabolic process; cellular response to stimulus | 12q24.31 |
| EIF2B2 | ovarian follicle development; gene expression; response to heat; cellular metabolic process; cellular protein metabolic process; cellular response to stimulus; response to peptide hormone stimulus; myelination; oligodendrocyte development; response to glucose stimulus; central nervous system development; regulation of translational initiation; translational initiation; translation | 14q24.3 |
| EIF2B3 | biosynthetic process; cellular protein metabolic process; response to peptide hormone stimulus; negative regulation of translational initiation in response to stress; cellular response to stimulus; oligodendrocyte development; gene expression; response to glucose stimulus; translational initiation; translation; response to heat | 1p34.1 |
| EIF2B4 | translational initiation; cellular protein metabolic process; cellular metabolic process; response to peptide hormone stimulus; myelination; negative regulation of translational initiation in response to stress; cellular response to stimulus; ovarian follicle development; translation; regulation of translation; response to heat; response to glucose stimulus; gene expression; oligodendrocyte development; negative regulation of translational initiation | 2p23.3 |
| EIF2B5 | regulation of translation; translational initiation; RNA metabolic process; negative regulation of translational initiation in response to stress; myelination; response to peptide hormone stimulus; cellular protein metabolic process; positive regulation of translational initiation; astrocyte differentiation; ovarian follicle development; astrocyte development; oligodendrocyte development; cellular response to stimulus; gene expression; response to glucose stimulus; response to heat; response to stress; translation | 3q27.1 |
| EIF2B5-IT1 | - | - |
| EIF2D | intracellular protein transport; translational initiation | 1q32.1 |
| EIF2S1 | activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response; regulation of translational initiation in response to stress; cellular protein metabolic process; protein autophosphorylation; gene expression; regulation of translation; translational initiation; translation | 14q23.3 |
| EIF2S2 | in utero embryonic development; male germ cell proliferation; translation; translational initiation; cellular protein metabolic process; male gonad development; gene expression | 20q11.2 |
| EIF2S2P2 | - | 3q27.2 |
| EIF2S2P3 | - | 10q23.33 |
| EIF2S2P5 | - | 1p13.1 |
| EIF2S2P6 | - | 11q14.1 |
| EIF2S3 | GTP catabolic process; cellular protein metabolic process; gene expression; translational initiation; translation | Xp22.2-p22.1 |
| EIF3A | cellular protein metabolic process; formation of translation initiation complex; translation; translational initiation; gene expression | 10q26 |
| EIF3B | gene expression; translation; translational initiation; regulation of translational initiation; cellular protein metabolic process | 7p22.3 |
| EIF3C | translational initiation; gene expression; cellular protein metabolic process; translation | 16p11.2 |
| EIF3D | formation of translation initiation complex; translation; translational initiation; gene expression; cellular protein metabolic process | 22q13.1 |
| EIF3E | gene expression; negative regulation of translational initiation; cellular protein metabolic process; regulation of translational initiation; translation; translational initiation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 8q22-q23 |
| EIF3EP1 | - | 6q13 |
| EIF3EP2 | - | 2q24.2 |
| EIF3F | translation; cellular protein metabolic process; gene expression; translational initiation | 11p15.4 |
| EIF3FP3 | - | 2p16.1 |
| EIF3G | translation; translational initiation; cellular protein metabolic process; gene expression | 19p13.2 |
| EIF3H | gene expression; translation; cellular protein metabolic process; regulation of translational initiation; translational initiation | 8q24.11 |
| EIF3I | cellular protein metabolic process; gene expression; translational initiation; translation | 1p34.1 |
| EIF3IP1 | - | 7q31.1 |
| EIF3J | cellular protein metabolic process; gene expression; translational initiation; translation | 15q21.1 |
| EIF3J-AS1 | - | 15q21.1 |
| EIF3K | cellular protein metabolic process; translation; gene expression; regulation of translational initiation; translational initiation | 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 | organ regeneration; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; cellular protein metabolic process; cytokine-mediated signaling pathway; nuclear-transcribed mRNA poly(A) tail shortening; translation; translational initiation; gene expression; RNA metabolic process; mRNA metabolic process | 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 | 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; rRNA processing; cytokine-mediated signaling pathway; positive regulation of translation; mRNA transport; negative regulation of translation; transport; RNA splicing; gene expression; RNA metabolic process; mRNA metabolic process | 17q25.3 |
| EIF4B | RNA metabolic process; cellular protein metabolic process; mRNA metabolic process; gene expression; insulin receptor signaling pathway; regulation of translational initiation; translational initiation; translation; nuclear-transcribed mRNA poly(A) tail shortening; 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 | translation; positive regulation of mitotic cell cycle; interspecies interaction between organisms; cellular protein metabolic process; cytokine-mediated signaling pathway; mRNA metabolic process; RNA metabolic process; gene expression; insulin receptor signaling pathway; regulation of translation; translational initiation; 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 | 4q21-q25 |
| EIF4E1B | regulation of translation | 5q35.2 |
| EIF4E2 | translation; regulation of translation; cytokine-mediated signaling pathway | 2q37.1 |
| EIF4E2P1 | - | 20p11.23 |
| EIF4E3 | cytokine-mediated signaling pathway; regulation of translation | 3p14 |
| EIF4EBP1 | cellular protein metabolic process; G1/S transition of mitotic cell cycle; translation; translational initiation; insulin receptor signaling pathway; gene expression; negative regulation of protein complex assembly; TOR signaling cascade; 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 | interspecies interaction between organisms; gene expression; cellular protein metabolic process; cytokine-mediated signaling pathway; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA poly(A) tail shortening; translation; translational initiation; regulation of translational initiation; cell death; insulin receptor signaling pathway; RNA metabolic process | 3q27-qter |
| EIF4G2 | translation; translational initiation; regulation of translational initiation; cell cycle arrest; cell death; RNA metabolic process; cytokine-mediated signaling pathway | 11p15 |
| EIF4G3 | interspecies interaction between organisms; cytokine-mediated signaling pathway; RNA metabolic process; regulation of translational initiation; translation | 1p36.12 |
| EIF4H | interspecies interaction between organisms; gene expression; translation; translational initiation; regulation of translational initiation; cellular protein metabolic process | 7q11.23 |
| EIF5 | GTP catabolic process; translation; translational initiation; regulation of translational initiation; gene expression; RNA metabolic process; cellular protein metabolic process | 14q32.32 |
| EIF5A | translational frameshifting; peptidyl-lysine modification to hypusine; protein transport; mRNA export from nucleus; translational elongation; protein export from nucleus; nucleocytoplasmic transport; induction of apoptosis; positive regulation of cell proliferation; post-translational protein modification; cellular protein metabolic process; positive regulation of translational elongation; positive regulation of translational termination | 17p13-p12 |
| EIF5A2 | positive regulation of translational elongation; translational frameshifting; spermatogenesis; mRNA transport; positive regulation of cell proliferation; peptidyl-lysine modification to hypusine; polyamine homeostasis; protein transport; post-translational protein modification; cellular protein metabolic process; positive regulation of translational termination | 3q26.2 |
| EIF5AL1 | translational frameshifting; peptidyl-lysine modification to hypusine; mRNA transport; protein transport; positive regulation of translational elongation; positive regulation of translational termination | 10q22.3 |
| EIF5AP2 | - | 17q25.3 |
| EIF5AP3 | - | 19q13.2 |
| EIF5B | regulation of translational initiation; translational initiation; translation; 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 | positive regulation of smooth muscle cell proliferation; neutrophil mediated killing of fungus; negative regulation of chemotaxis; leukocyte migration; positive regulation of immune response; response to yeast; acute inflammatory response to antigenic stimulus; proteolysis; cellular calcium ion homeostasis; phagocytosis; response to UV; protein catabolic process; response to lipopolysaccharide; positive regulation of MAP kinase activity; negative regulation of growth of symbiont in host; negative regulation of chemokine biosynthetic process; negative regulation of interleukin-8 biosynthetic process; positive regulation of interleukin-8 biosynthetic process; negative regulation of inflammatory response | 19p13.3 |
| ELAVL1 | mRNA stabilization; multicellular organismal development; gene expression; RNA metabolic process; mRNA metabolic process; positive regulation of translation; 3'-UTR-mediated mRNA stabilization | 19p13.2 |
| ELAVL2 | regulation of transcription, DNA-dependent | 9p21 |
| ELAVL3 | cell differentiation; nervous system development; multicellular organismal development | 19p13.2 |
| ELAVL4 | mRNA processing; RNA processing | 1p34 |
| ELDR | - | 7p11.2 |
| ELF1 | negative regulation of T cell receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of cytokine production | 13q13 |
| ELF2 | positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter | 4q28 |
| ELF2P1 | - | Xq22.2 |
| ELF3 | extracellular matrix organization; regulation of transcription, DNA-dependent; blastocyst development; transcription from RNA polymerase II promoter; inflammatory response; multicellular organismal development; epidermis development; anatomical structure morphogenesis; embryo development; epithelial cell differentiation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; mammary gland involution | 1q32.2 |
| ELF4 | natural killer cell proliferation; NK T cell proliferation; regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | Xq26 |
| ELF5 | ectoderm development; transcription from RNA polymerase II promoter; mammary gland epithelial cell differentiation; cell proliferation | 11p13-p12 |
| ELFN1 | negative regulation of phosphatase activity | 7p22.3 |
| ELFN1-AS1 | - | 7p22.3 |
| ELFN2 | negative regulation of phosphatase activity | 22q13.1 |
| ELK1 | toll-like receptor 4 signaling pathway; 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; innate immune response; 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; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway | Xp11.2 |
| ELK1P1 | - | 7p12.3 |
| ELK3 | angiogenesis; regulation of transcription, DNA-dependent; signal transduction; negative regulation of transcription, DNA-dependent; wound healing | 12q23 |
| ELK4 | regulation of transcription, DNA-dependent | 1q32 |
| ELL | 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; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; in utero embryonic development | 19p13.1 |
| ELL2 | regulation of transcription, DNA-dependent; transcription elongation from RNA polymerase II promoter | 5q15 |
| ELL2P1 | - | 1q23.1 |
| ELL3 | positive regulation of transcription elongation, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; spermatogenesis; regulation of transcription, DNA-dependent; transcription elongation, DNA-dependent | 15q15.3 |
| ELMO1 | regulation of defense response to virus by virus; cellular component movement; viral reproduction; Rac protein signal transduction; actin cytoskeleton organization; apoptotic process; phagocytosis, engulfment | 7p14.1 |
| ELMO2 | phagocytosis; apoptotic process; metabolic process; cell chemotaxis | 20q13 |
| ELMO3 | phagocytosis; apoptotic process | 16q22.1 |
| ELMOD1 | positive regulation of GTPase activity; phagocytosis | 11q22.3 |
| ELMOD2 | regulation of defense response to virus; positive regulation of GTPase activity; response to virus; phagocytosis | 4q31.1 |
| ELMOD3 | phagocytosis | 2p11.2 |
| ELMSAN1 | - | 14q24.3 |
| ELN | respiratory gaseous exchange; blood circulation; cell proliferation; organ morphogenesis | 7q11.23 |
| ELOF1 | regulation of transcription, DNA-dependent | 19p13.2 |
| ELOVL1 | fatty acid elongation, saturated fatty acid; small molecule metabolic process; cellular lipid metabolic process; fatty acid biosynthetic process; very long-chain fatty acid biosynthetic process; long-chain fatty-acyl-CoA biosynthetic process; fatty acid elongation, monounsaturated fatty acid; sphingolipid biosynthetic process; triglyceride biosynthetic process | 1p34.2 |
| ELOVL2 | fatty acid biosynthetic process; very long-chain fatty acid biosynthetic process; triglyceride biosynthetic process; fatty acid elongation, polyunsaturated fatty acid; long-chain fatty-acyl-CoA biosynthetic process; cellular lipid metabolic process; small molecule metabolic process | 6p24.2 |
| ELOVL2-AS1 | - | - |
| ELOVL3 | triglyceride biosynthetic process; very long-chain fatty acid biosynthetic process; fatty acid elongation, monounsaturated fatty acid; fatty acid elongation, polyunsaturated fatty acid; long-chain fatty-acyl-CoA biosynthetic process; small molecule metabolic process; cellular lipid metabolic process; fatty acid elongation, saturated fatty acid; fatty acid biosynthetic process | 10q24.32 |
| ELOVL4 | fatty acid biosynthetic process; small molecule metabolic process; cellular lipid metabolic process; very long-chain fatty acid biosynthetic process; long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process; fatty acid elongation, saturated fatty acid; detection of visible light | 6q14 |
| ELOVL5 | 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 | 6p21.1-p12.1 |
| ELOVL6 | fatty acid elongation, monounsaturated fatty acid; triglyceride biosynthetic process; fatty acid elongation, saturated fatty acid; long-chain fatty-acyl-CoA biosynthetic process; long-chain fatty acid biosynthetic process; cellular lipid metabolic process; small molecule metabolic process | 4q25 |
| ELOVL7 | long-chain fatty-acyl-CoA biosynthetic process; very long-chain fatty acid biosynthetic process; cellular lipid metabolic process; small molecule metabolic process; fatty acid elongation, polyunsaturated fatty acid; triglyceride biosynthetic process; 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 | regulation of transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter | 8p21.1 |
| ELP4 | transcription elongation from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; histone acetylation | 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 | nuclear envelope reassembly; cellular response to growth factor stimulus; regulation of canonical Wnt receptor signaling pathway; negative regulation of fibroblast proliferation; positive regulation of protein export from nucleus; negative regulation of catenin import into nucleus; muscle organ development; muscle contraction | Xq28 |
| EME1 | DNA repair; DNA recombination | 17q21.33 |
| EME2 | DNA recombination; DNA repair | 16p13.3 |
| EMG1 | rRNA processing; ribosomal small subunit biogenesis | 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 | microtubule-based process; mitosis | 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; regulation of transcription, DNA-dependent; chromatin modification | 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 | 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; neuron development; pigmentation; positive regulation of transcription from RNA polymerase II promoter | 2q14.2 |
| EN2 | neuron development; positive regulation of transcription from RNA polymerase II promoter; hindbrain development; midbrain development; multicellular organismal development | 7q36 |
| ENAH | actin polymerization or depolymerization; T cell receptor signaling pathway; neural tube closure; cellular component movement; axon guidance; intracellular transport | 1q42.12 |
| ENAM | odontogenesis; bone mineralization | 4q13.3 |
| ENC1 | multicellular organismal development; nervous system development | 5q13 |
| ENDOD1 | - | 11q21 |
| ENDOG | response to tumor necrosis factor; response to antibiotic; positive regulation of apoptotic process; in utero embryonic development; DNA fragmentation involved in apoptotic nuclear change | 9q34.1 |
| ENDOU | female pregnancy; immune response; proteolysis | 12q13.1 |
| ENDOV | DNA repair | 17q25.3 |
| ENG | wound healing; cell migration; 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 cell adhesion; extracellular matrix disassembly; central nervous system vasculogenesis; regulation of transforming growth factor beta receptor signaling pathway; regulation of phosphorylation; regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter; smooth muscle tissue development; 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; heart development; positive regulation of pathway-restricted SMAD protein phosphorylation; negative regulation of transcription from RNA polymerase II promoter; chronological cell aging; patterning of blood | 9q34.11 |
| ENGASE | metabolic process | 17q25.3 |
| ENHO | - | 9p13.3 |
| ENKD1 | - | 16q22.1 |
| ENKUR | - | 10p12.1 |
| ENO1 | negative regulation of transcription, DNA-dependent; small molecule metabolic process; negative regulation of cell growth; response to virus; glycolysis; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process; negative regulation of transcription from RNA polymerase II promoter | 1p36.2 |
| ENO1P2 | - | - |
| ENO1P3 | - | - |
| ENO2 | carbohydrate metabolic process; glucose metabolic process; gluconeogenesis; glycolysis; small molecule metabolic process | 12p13 |
| ENO3 | glucose metabolic process; small molecule metabolic process; skeletal muscle tissue regeneration; response to drug; aging; glycolysis; gluconeogenesis; carbohydrate metabolic process | 17pter-p11 |
| ENO4 | glycolysis | 10q25.3 |
| ENOPH1 | sulfur amino acid metabolic process; polyamine metabolic process; cellular amino acid biosynthetic process; methionine biosynthetic process; L-methionine salvage from methylthioadenosine; small molecule metabolic process; cellular nitrogen compound metabolic process | 4q21.22 |
| ENOSF1 | cellular amino acid catabolic process | 18p11.32 |
| ENOX1 | transport; electron transport chain; rhythmic process | 13q14.11 |
| ENOX1-AS1 | - | - |
| ENOX2 | electron transport chain; transport; ultradian rhythm; regulation of growth; cell growth; oxidation-reduction process | Xq25 |
| ENPEP | glomerulus development; 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 | 4q25 |
| ENPP1 | 3'-phosphoadenosine 5'-phosphosulfate metabolic process; bone remodeling; negative regulation of insulin receptor signaling pathway; negative regulation of glucose import; phosphate-containing compound metabolic process; negative regulation of fat cell differentiation; immune response; riboflavin metabolic process; water-soluble vitamin metabolic process; vitamin metabolic process; generation of precursor metabolites and energy; nucleoside triphosphate catabolic process; negative regulation of ossification; negative regulation of cell growth; regulation of bone mineralization; inorganic diphosphate transport; cellular phosphate ion homeostasis; sequestering of triglyceride; biomineral tissue development; negative regulation of protein autophosphorylation; cellular response to insulin stimulus; small molecule metabolic process; negative regulation of glycogen biosynthetic process | 6q22-q23 |
| ENPP2 | phosphate-containing compound metabolic process; phosphatidylcholine catabolic process; regulation of cell migration; lipid catabolic process; G-protein coupled receptor signaling pathway; immune response; chemotaxis; cellular component movement | 8q24.1 |
| ENPP3 | inorganic diphosphate transport; phosphate-containing compound metabolic process; immune response; nucleoside triphosphate catabolic process | 6q22 |
| ENPP4 | - | 6p21.1 |
| ENPP5 | cell communication | 6p21.1-p11.2 |
| ENPP6 | choline metabolic process; lipid catabolic process | 4q35.1 |
| ENPP7 | sphingolipid metabolic process; sphingomyelin metabolic process; glycosphingolipid metabolic process; negative regulation of DNA replication; negative regulation of cell proliferation; small molecule metabolic process | 17q25.3 |
| ENPP7P13 | - | 16p11.2 |
| ENPP7P2 | - | - |
| ENPP7P4 | - | - |
| ENPP7P8 | - | - |
| ENSA | response to nutrient; G2/M transition of mitotic cell cycle; transport; cell cycle; mitosis; cell division | 1q21.3 |
| ENSAP2 | - | 14q31.1 |
| ENTHD1 | - | 22q13.1 |
| ENTHD2 | - | 17q25.3 |
| ENTPD1 | platelet activation; purine ribonucleoside diphosphate catabolic process; blood coagulation; G-protein coupled receptor signaling pathway; cell adhesion; ATP catabolic process | 10q24 |
| ENTPD1-AS1 | - | 10q24.1 |
| ENTPD2 | platelet activation; purine ribonucleoside diphosphate catabolic process; G-protein coupled receptor signaling pathway | 9q34 |
| ENTPD3 | nucleoside diphosphate catabolic process; nucleoside triphosphate catabolic process | 3p21.3 |
| ENTPD3-AS1 | - | 3p21.33 |
| ENTPD4 | UDP catabolic process | 8p21.3 |
| ENTPD5 | ATP metabolic process; 'de novo' posttranslational protein folding; glycolysis; protein N-linked glycosylation; metabolic process; cell proliferation; regulation of phosphatidylinositol 3-kinase cascade; cell growth | 14q24 |
| ENTPD6 | response to magnesium ion; response to calcium ion | 20p11.21 |
| ENTPD7 | - | - |
| ENTPD8 | nucleoside diphosphate biosynthetic process; nucleoside monophosphate biosynthetic process | 9q34.3 |
| ENY2 | transport; positive regulation of transcription, DNA-dependent; histone deubiquitination; chromatin modification; mRNA transport | 8q23.1 |
| EOGT | - | 3p14.1 |
| EOMES | blastocyst development; mesodermal to mesenchymal transition involved in gastrulation; cell differentiation involved in embryonic placenta development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of cell differentiation; cerebral cortex neuron differentiation; brain development; multicellular organismal development; CD8-positive, alpha-beta T cell differentiation involved in immune response; trophectodermal cell differentiation; mesoderm formation; endoderm formation; endodermal cell fate specification | 3p24.1 |
| EP300 | positive regulation of sequence-specific DNA binding transcription factor activity; response to ethanol; positive regulation of translation; positive regulation of axon extension; positive regulation of cell size; innate immune response; positive regulation of proteolysis; positive regulation of transcription from RNA polymerase II promoter; digestive tract development; positive regulation of protein secretion; negative regulation of transcription from RNA polymerase II promoter; response to glucocorticoid stimulus; response to calcium ion; 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; nervous system development; N-terminal peptidyl-lysine acetylation; histone acetylation; response to organic cyclic compound; positive regulation of glycoprotein biosynthetic process; organ morphogenesis; response to glucose stimulus; skele | 22q13.2 |
| EP300-AS1 | - | 22q13.2 |
| EP400 | regulation of transcription, DNA-dependent; chromatin modification; histone H4 acetylation; histone H2A acetylation | 12q24.33 |
| EP400NL | - | 12q24.33 |
| EPAG | - | Xq21.33 |
| EPAS1 | multicellular organismal development; angiogenesis; embryonic placenta development; blood vessel remodeling; regulation of heart rate; transcription from RNA polymerase II promoter; response to oxidative stress; mitochondrion organization; signal transduction; visual perception; response to hypoxia; 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; erythrocyte differentiation; cell differentiation; hemopoiesis | 2p21-p16 |
| EPB41 | blood circulation; actin cytoskeleton organization; cortical actin cytoskeleton organization; positive regulation of protein binding | 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 | erythrocyte maturation; peptide cross-linking; regulation of cell shape | 15q15-q21 |
| EPC1 | histone H2A acetylation; negative regulation of gene expression, epigenetic; negative regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent; chromatin modification; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; regulation of growth; histone H4 acetylation; positive regulation of transcription, DNA-dependent | 10p11 |
| EPC2 | chromatin modification; DNA repair; regulation of transcription, DNA-dependent | 2q23.1 |
| EPCAM | ureteric bud development; positive regulation of cell proliferation | 2p21 |
| EPDR1 | cell-matrix adhesion | 7p14.1 |
| EPG5 | autophagy | 18q12.3 |
| EPGN | MAPK cascade; activation of MAPK activity; angiogenesis; positive regulation of cell proliferation; positive regulation of MAP kinase activity; positive regulation of epidermal growth factor-activated receptor activity; positive regulation of mitosis; positive regulation of epithelial cell proliferation | 4q13.3 |
| EPHA1 | protein autophosphorylation; positive regulation of stress fiber assembly; positive regulation of angiogenesis; substrate adhesion-dependent cell spreading; activation of Rho GTPase activity; regulation of Rac GTPase activity; negative regulation of cell migration; positive regulation of cell migration; positive regulation of cell proliferation; cell surface receptor signaling pathway; cell adhesion; negative regulation of protein kinase activity; positive regulation of cell-matrix adhesion; peptidyl-tyrosine phosphorylation | 7q34 |
| EPHA1-AS1 | - | 7q35 |
| EPHA10 | - | 1p34.3 |
| EPHA2 | activation of Rac GTPase activity; cell chemotaxis; mammary gland epithelial cell proliferation; regulation of cell adhesion mediated by integrin; tail morphogenesis; protein kinase B signaling cascade; regulation of blood vessel endothelial cell migration; regulation of angiogenesis; bone remodeling; ephrin receptor signaling pathway; axial mesoderm formation; negative regulation of protein kinase B signaling cascade; notochord cell development; osteoclast differentiation; keratinocyte differentiation; neuron differentiation; neural tube development; notochord formation; regulation of lamellipodium assembly; multicellular organismal development; cell adhesion; apoptotic process; osteoblast differentiation; vasculogenesis; skeletal system development; blood vessel development; lens fiber cell morphogenesis; branching involved in mammary gland duct morphogenesis; regulation of ERK1 and ERK2 cascade; response to growth factor stimulus; positive regulation of establishment of protein localization in plasma membr | 1p36 |
| EPHA3 | cellular response to retinoic acid; fever generation; apoptotic process; cell adhesion; regulation of epithelial to mesenchymal transition; positive regulation of neuron projection development; cell migration; regulation of Rho GTPase activity; response to lipopolysaccharide; regulation of actin cytoskeleton organization; ephrin receptor signaling pathway; regulation of focal adhesion assembly; regulation of microtubule cytoskeleton organization; response to cytokine stimulus; fasciculation of motor neuron axon; fasciculation of sensory neuron axon | 3p11.2 |
| EPHA4 | regulation of Rac GTPase activity; 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 sensory neuron axon; fasciculation of motor neuron axon; positive regulation of Rho guanyl-nucleotide exchange factor activity; corticospinal tract morphogenesis; peptidyl-tyrosine phosphorylation; motor axon guidance; cell adhesion; multicellular organismal development; nervous system development; adult walking behavior | 2q36.1 |
| EPHA5 | regulation of Rac GTPase activity; nervous system development; axon guidance; hippocampus development; positive regulation of CREB transcription factor activity; regulation of actin cytoskeleton organization; ephrin receptor signaling pathway; neuron development; dendritic spine morphogenesis; regulation of insulin secretion involved in cellular response to glucose stimulus; cAMP-mediated signaling | 4q13.1 |
| EPHA5-AS1 | - | - |
| EPHA6 | - | 3q11.2 |
| EPHA7 | regulation of peptidyl-tyrosine phosphorylation; 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 ERK1 and ERK2 cascade | 6q16.1 |
| EPHA8 | positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of MAPK cascade; 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; ephrin receptor signaling pathway; protein autophosphorylation | 1p36.12 |
| EPHB1 | central nervous system projection neuron axonogenesis; neurogenesis; establishment of cell polarity; retinal ganglion cell axon guidance; cell-substrate adhesion; regulation of JNK cascade; protein autophosphorylation; ephrin receptor signaling pathway; detection of temperature stimulus involved in sensory perception of pain; positive regulation of synapse assembly; cell chemotaxis; dendritic spine development; dendritic spine morphogenesis; neural precursor cell proliferation; regulation of ERK1 and ERK2 cascade; camera-type eye morphogenesis; angiogenesis; signal transduction; axon guidance; cranial nerve development; optic nerve morphogenesis | 3q21-q23 |
| EPHB2 | ephrin receptor signaling pathway; commissural neuron axon guidance; dendritic spine morphogenesis; dendritic spine development; palate development; positive regulation of synapse assembly; regulation of body fluid levels; inner ear morphogenesis; corpus callosum development; peptidyl-tyrosine phosphorylation; phosphorylation; axonal fasciculation; axon guidance; nervous system development; multicellular organismal development; protein phosphorylation; urogenital system development; angiogenesis | 1p36.1-p35 |
| EPHB3 | angiogenesis; regulation of Cdc42 GTPase activity; multicellular organismal development; nervous system development; axon guidance; axonal fasciculation; cell migration; central nervous system projection neuron axonogenesis; corpus callosum development; regulation of cell-cell adhesion; retinal ganglion cell axon guidance; regulation of Rac GTPase activity; substrate adhesion-dependent cell spreading; protein autophosphorylation; ephrin receptor signaling pathway; thymus development; digestive tract morphogenesis; regulation of axonogenesis; positive regulation of synapse assembly; palate development; dendritic spine development; signal transduction; urogenital system development; dendritic spine morphogenesis | 3q21-qter |
| EPHB4 | ephrin receptor signaling pathway; cell adhesion; multicellular organismal development; protein autophosphorylation; heart morphogenesis; cell migration involved in sprouting angiogenesis; angiogenesis | 7q22 |
| EPHB6 | ephrin receptor signaling pathway | 7q33-q35 |
| EPHX1 | aromatic compound catabolic process; response to organic cyclic compound; response to toxin | 1q42.1 |
| EPHX2 | regulation of blood pressure; reactive oxygen species metabolic process; positive regulation of vasodilation; aromatic compound catabolic process; drug metabolic process; response to toxin; xenobiotic metabolic process; cellular calcium ion homeostasis; inflammatory response | 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 | signal transduction; decidualization; cellular response to erythropoietin; embryo development; heart development; brain development; elevation of cytosolic calcium ion concentration | 19p13.3-p13.2 |
| EPPIN | - | 20q13.12 |
| EPPIN-WFDC6 | - | 20q |
| EPPK1 | - | 8q24.3 |
| EPRS | gene expression; protein complex assembly; prolyl-tRNA aminoacylation; glutamyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 1q41 |
| EPS15 | cell proliferation; clathrin coat assembly; epidermal growth factor receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; endocytic recycling; vesicle organization; protein transport | 1p32 |
| EPS15L1 | negative regulation of epidermal growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; endocytosis | 19p13.11 |
| EPS8 | signal transduction; epidermal growth factor receptor signaling pathway; cell proliferation | 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 | ribosome biogenesis; ribosomal small subunit assembly | 17q11.2 |
| ERAP1 | fat cell differentiation; regulation of innate immune response; angiogenesis; antigen processing and presentation of endogenous peptide antigen via MHC class I; antigen processing and presentation of peptide antigen via MHC class I; proteolysis; membrane protein ectodomain proteolysis; response to bacterium; regulation of blood pressure | 5q15 |
| ERAP2 | antigen processing and presentation of endogenous peptide antigen via MHC class I; antigen processing and presentation of peptide antigen via MHC class I; proteolysis; regulation of blood pressure | 5q15 |
| ERAS | small GTPase mediated signal transduction; signal transduction | Xp11.23 |
| ERBB2 | positive regulation of transcription from RNA polymerase III promoter; positive regulation of protein phosphorylation; negative regulation of immature T cell proliferation in thymus; regulation of microtubule-based process; response to progesterone stimulus; 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; motor axon guidance; liver development; wound healing; regulation of transcription, DNA-dependent; protein phosphorylation; signal transduction; cell surface receptor signaling pathway; enzyme linked receptor protein signaling pathway; transmembrane receptor protein tyrosine kinase signaling pathway; epidermal growth factor receptor signaling pathway; nervous system development; axon guidance; peripheral nervous system development; heart development; skeletal muscl | 17q12 |
| ERBB2IP | basal protein localization; establishment or maintenance of epithelial cell apical/basal polarity; intermediate filament cytoskeleton organization; cell cycle; cell growth; integrin-mediated signaling pathway; epidermal growth factor receptor signaling pathway; signal transduction; cell adhesion | 5q12.3 |
| ERBB3 | endocardial cushion development; tongue development; positive regulation of protein tyrosine kinase activity; mammary gland involution; neuron apoptosis; negative regulation of secretion; positive regulation of glucose import; response to drug; 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; negative regulation of signal transduction; Schwann cell differentiation; 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; negative regulation of neuron apoptosis | 12q13 |
| ERBB4 | positive regulation of STAT protein import into nucleus; telencephalon development; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; multicellular organismal development; nervous system development; heart development; lactation; cell proliferation; positive regulation of cell proliferation; negative regulation of cell proliferation; embryonic pattern specification; cell migration; peptidyl-tyrosine phosphorylation; apoptotic process; central nervous system morphogenesis; olfactory bulb interneuron differentiation; regulation of cell migration; positive regulation of cell migration; positive regulation of synaptic transmission, GABAergic; response to progesterone stimulus; response to drug; positive regulation of tyrosine phosphorylation of Stat5 protein; response to hydrogen peroxide; negative regulation of apoptotic process; surfactant homeostasis; positive regulation of protein phosphorylation; positive regulation of ERK1 and ERK2 cascade; cardiac muscle tissue regenera | 2q33.3-q34 |
| ERC1 | positive regulation of anti-apoptosis; retrograde transport, endosome to Golgi; multicellular organismal development; I-kappaB phosphorylation; positive regulation of NF-kappaB transcription factor activity; regulation of transcription, DNA-dependent; protein transport | 12p13.3 |
| ERC2 | - | 3p14.3 |
| ERC2-IT1 | - | 3p14.3 |
| ERCC1 | post-embryonic hemopoiesis; multicellular organism growth; negative regulation of apoptotic process; isotype switching; oogenesis; embryonic organ development; chromosome organization; negative regulation of telomere maintenance; response to X-ray; multicellular organismal aging; pyrimidine dimer repair by nucleotide-excision repair; response to sucrose stimulus; UV protection; response to abiotic stimulus; nucleotide-excision repair, DNA damage removal; male gonad development; cell proliferation; response to nutrient; spermatogenesis; germ cell development; response to oxidative stress; mitotic recombination; DNA recombination; double-strand break repair; nucleotide-excision repair, DNA incision, 5'-to lesion; nucleotide-excision repair, DNA incision, 3'-to lesion; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; syncytium formation; replicative cell aging; DNA repair | 19q13.32 |
| ERCC2 | hair cell differentiation; multicellular organism growth; nucleotide-excision repair, DNA incision; central nervous system myelin formation; UV protection; bone mineralization; extracellular matrix organization; spinal cord development; viral reproduction; gene expression; post-embryonic development; embryonic cleavage; negative regulation of apoptotic process; transcription from RNA polymerase I promoter; erythrocyte maturation; positive regulation of DNA binding; skin development; interspecies interaction between organisms; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; hair follicle maturation; positive regulation of viral transcription; hemopoietic stem cell differentiation; aging; cell proliferation; cell cycle checkpoint; nucleotide-excision repair, DNA damage removal; response to hypoxia; in utero embryonic development; nucleobase-containing compound metabolic process; DNA repair; transcription-coupled nucleotide-excision repai | 19q13.3 |
| ERCC3 | transcription elongation from RNA polymerase II promoter; mRNA capping; protein phosphorylation; 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 from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; cell cycle checkpoint; nucleotide-excision repair, DNA duplex unwinding; nucleotide-excision repair, DNA damage removal; response to hypoxia; ATP catabolic process; DNA topological change; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; regulation of transcription, DNA-dependent; transcription from RNA polymerase I promoter; transcription elongation | 2q21 |
| ERCC4 | nucleotide-excision repair, DNA incision; negative regulation of telomere maintenance; telomere maintenance via telomere shortening; UV protection; response to UV; nucleotide-excision repair, DNA incision, 5'-to lesion; nucleotide-excision repair, DNA incision, 3'-to lesion; nucleotide-excision repair; DNA repair; double-strand break repair via homologous recombination; telomere maintenance; nucleotide-excision repair, DNA damage removal; resolution of meiotic recombination intermediates; meiotic mismatch repair; transcription-coupled nucleotide-excision repair | 16p13.12 |
| ERCC5 | transcription-coupled nucleotide-excision repair; nucleotide-excision repair, DNA damage removal; response to UV-C; response to UV; nucleotide-excision repair; negative regulation of apoptotic process; DNA repair; nucleotide-excision repair, DNA incision, 3'-to lesion; UV protection; multicellular organism growth; determination of adult lifespan | 13q33 |
| ERCC6 | transcription-coupled nucleotide-excision repair; response to toxin; response to UV-B; response to X-ray; photoreceptor cell maintenance; DNA repair; response to superoxide; activation of JUN kinase activity; response to oxidative stress; nucleotide-excision repair; response to UV; base-excision repair; response to gamma radiation; regulation of transcription elongation, DNA-dependent; pyrimidine dimer repair; positive regulation of transcription elongation, DNA-dependent; activation of JNKK activity; transcription from RNA polymerase II promoter; DNA damage response, signal transduction resulting in induction of apoptosis | 10q11.23 |
| ERCC6L | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; cell division | Xq13.1 |
| ERCC6L2 | DNA repair | 9q22.32 |
| ERCC8 | nucleotide-excision repair; DNA repair; response to oxidative stress; protein autoubiquitination; protein polyubiquitination; response to DNA damage stimulus; transcription-coupled nucleotide-excision repair; response to UV; positive regulation of DNA repair; proteasomal ubiquitin-dependent protein catabolic process; response to X-ray | 5q12.1 |
| EREG | positive regulation of cell division; negative regulation of epithelial cell proliferation; positive regulation of smooth muscle cell proliferation; primary follicle stage; negative regulation of transcription, DNA-dependent; positive regulation of protein kinase activity; positive regulation of mitosis; positive regulation of epidermal growth factor-activated receptor activity; positive regulation of DNA replication; positive regulation of interleukin-6 biosynthetic process; positive regulation of innate immune response; positive regulation of phosphorylation; response to peptide hormone stimulus; luteinizing hormone signaling pathway; positive regulation of cytokine biosynthetic process; ovulation; anatomical structure morphogenesis; wound healing; organ morphogenesis; keratinocyte proliferation; mRNA transcription; negative regulation of cell proliferation; multicellular organismal development; negative regulation of smooth muscle cell differentiation; positive regulation of fibroblast proliferation; cytok | 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 | ER to Golgi vesicle-mediated transport; 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; rRNA 3'-end processing; histone mRNA catabolic process | 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; actin filament organization; regulation of cell shape | 2q24.1 |
| ERMP1 | ovarian follicle development; proteolysis | 9p24 |
| ERN1 | 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; protein autophosphorylation; positive regulation of endoplasmic reticulum unfolded protein response | 17q24.2 |
| ERN2 | cell cycle arrest; rRNA catabolic process; response to stress; induction of apoptosis; apoptotic process; protein phosphorylation; mRNA processing; negative regulation of transcription, DNA-dependent | 16p12.2 |
| ERO1A | oxidation-reduction process; chaperone mediated protein folding requiring cofactor; protein folding; protein modification process; protein thiol-disulfide exchange; transport; electron transport chain; response to temperature stimulus; brown fat cell differentiation; endoplasmic reticulum unfolded protein response | 14q22.1 |
| ERO1B | electron transport chain; protein folding; protein thiol-disulfide exchange; transport; oxidation-reduction process | 1q42.2-q43 |
| ERP27 | - | 12p12.3 |
| ERP29 | protein folding; intracellular protein transport; protein secretion | 12q24.13 |
| ERP44 | response to stress; protein folding; glycoprotein metabolic process; cell redox homeostasis; response to unfolded protein | 9q31.1 |
| ERRFI1 | response to stress; positive regulation of Rho GTPase activity; skin morphogenesis; regulation of keratinocyte differentiation; lung alveolus development; negative regulation of protein autophosphorylation; negative regulation of peptidyl-tyrosine phosphorylation; lung vasculature development; lung epithelium development; negative regulation of epidermal growth factor-activated receptor activity | 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 | regulation of cell growth; angiogenesis | 5q11.2 |
| ESPL1 | proteolysis; meiotic spindle organization; mitotic sister chromatid segregation; apoptotic process; cytokinesis; establishment of mitotic spindle localization; negative regulation of sister chromatid cohesion; homologous chromosome segregation; metabolic process; positive regulation of mitotic metaphase/anaphase transition; chromosome segregation | 12q |
| ESPN | parallel actin filament bundle assembly; locomotory behavior; negative regulation of cytoskeleton organization; sensory perception of sound | 1p36.31 |
| ESPNL | - | 2q37.3 |
| ESPNP | - | 1p36.13 |
| ESR1 | uterus development; vagina development; prostate epithelial cord elongation; regulation of branching involved in prostate gland morphogenesis; mammary gland branching involved in pregnancy; mammary gland alveolus development; epithelial cell proliferation involved in mammary gland duct elongation; positive regulation of ERK1 and ERK2 cascade; cellular response to estrogen stimulus; 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; intracellular estrogen receptor signaling pathway; response to estradiol stimulus; regulation of apoptotic process; negative regulation of I-kappaB kinase/NF-kappaB cascade; Sertoli cell proliferation; steroid hormone mediated signaling pathway; negative regulation of sequence-specific DNA binding transcription factor activity; neuroprotection; response to estrogen stimul | 6q25.1 |
| ESR2 | negative regulation of transcription from RNA polymerase II promoter; ovarian follicle development; neuron migration; regulation of transcription, DNA-dependent; signal transduction; cell-cell signaling; brain development; negative regulation of signal transduction; gene expression; negative regulation of cell growth; intracellular estrogen receptor signaling pathway; intracellular receptor mediated signaling pathway; positive regulation of apoptotic process; steroid hormone mediated signaling pathway; negative regulation of epithelial cell proliferation; positive regulation of sequence-specific DNA binding transcription factor activity; uterus development; vagina development; prostate gland epithelium morphogenesis; epithelial cell maturation involved in prostate gland development; negative regulation of androgen receptor signaling pathway | 14q23.2 |
| ESRP1 | mRNA processing; regulation of RNA splicing | 8q22.1 |
| ESRP2 | regulation of RNA splicing; mRNA processing | 16q22.1 |
| ESRRA | gene expression; intracellular receptor mediated signaling pathway; regulation of cell proliferation; regulation of osteoblast differentiation; regulation of osteoclast 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 | negative regulation of transcription, DNA-dependent; blood vessel development; regulation of transcription from RNA polymerase II promoter; labyrinthine layer blood vessel development; labyrinthine layer morphogenesis; regulation of cell cycle | Xq22.1 |
| ESYT1 | - | 12q13.2 |
| ESYT2 | - | 7q36.3 |
| ESYT3 | - | 3q22.3 |
| ETAA1 | - | 2p14 |
| ETF1 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational termination; regulation of translational termination; protein methylation; gene expression; RNA metabolic process; mRNA metabolic process; cellular protein metabolic process | 5q31.1 |
| ETF1P3 | - | Xq12 |
| ETFA | transport; respiratory electron transport chain; small molecule metabolic process; oxidation-reduction process | 15q23-q25 |
| ETFB | transport; respiratory electron transport chain; 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; small molecule metabolic process; cellular nitrogen compound metabolic process; sulfur amino acid catabolic process; sulfide oxidation, using sulfide:quinone oxidoreductase | 19q13.31 |
| ETNK1 | phospholipid biosynthetic process; phosphatidylethanolamine biosynthetic process | 12p12.1 |
| ETNK2 | multicellular organism growth; post-embryonic development; phospholipid biosynthetic process; phosphatidylethanolamine biosynthetic process; placenta development; in utero embryonic development | 1q32.1 |
| ETNPPL | - | 4q25 |
| ETS1 | response to laminar fluid shear stress; positive regulation of erythrocyte differentiation; positive regulation of angiogenesis; cellular response to hydrogen peroxide; PML body organization; pituitary gland development; positive regulation of cell migration; response to estradiol stimulus; 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; angiogenesis involved in wound healing; estrous cycle phase; 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; induction of apoptosis; anti-apoptosis; transcription from RNA polymerase II promoter; response to hypoxia; response to interleukin-1; hypothalamus development | 11q23.3 |
| ETS2 | skeletal system development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 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 gene expression; Wnt receptor signaling pathway; hemopoiesis; erythrocyte differentiation; positive regulation of endothelial cell differentiation; positive regulation of transcription from RNA polymerase II promoter; blood vessel morphogenesis; BMP signaling pathway involved in mesodermal cell fate specification; positive regulation of mesoderm development | 19q13.12 |
| ETV3 | - | 1q21-q23 |
| ETV4 | regulation of transcription, DNA-dependent; motor axon guidance; negative regulation of mammary gland epithelial cell proliferation; positive regulation of transcription, DNA-dependent; stem cell differentiation; regulation of branching involved in mammary gland duct morphogenesis | 17q21 |
| ETV5 | regulation of transcription, DNA-dependent; cellular response to oxidative stress; positive regulation of neuron differentiation; positive regulation of transcription, DNA-dependent; male germ-line stem cell division; positive regulation of glial cell proliferation; regulation of branching involved in mammary gland duct morphogenesis | 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 | skeletal system development; endochondral bone growth; muscle organ development; positive regulation of smoothened signaling pathway; cartilage development | 4p16 |
| EVC2 | smoothened signaling pathway | 4p16.2-p16.1 |
| EVI2A | - | 17q11.2 |
| EVI2B | - | 17q11.2 |
| EVI5 | cell cycle; multicellular organismal development; cell proliferation; cell division | 1p22.1 |
| EVI5L | - | 19p13.2 |
| EVL | protein homotetramerization; actin polymerization or depolymerization; organ morphogenesis; actin filament organization; axon guidance; nervous system development; cell surface receptor signaling pathway | 14q32.2 |
| EVPL | keratinization; keratinocyte differentiation; peptide cross-linking; epidermis development | 17q25 |
| EVPLL | - | 17p11.2 |
| EVX1 | regulation of transcription, DNA-dependent; multicellular organismal development; embryo development ending in birth or egg hatching; regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification; positive regulation of transcription from RNA polymerase II promoter | 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 | DNA repair; isotype switching; humoral immune response mediated by circulating immunoglobulin; somatic hypermutation of immunoglobulin genes; mismatch repair; DNA recombination; meiosis | 1q42-q43 |
| EXO5 | - | 1p34.2 |
| EXOC1 | protein transport; exocytosis | 4q12 |
| EXOC2 | exocytosis; protein transport | 6p25.3 |
| EXOC3 | exocytosis; protein transport | 5p15.33 |
| EXOC3-AS1 | - | 5p15.33 |
| EXOC3L1 | exocytosis; peptide hormone secretion | 16q22.1 |
| EXOC3L2 | - | 19q13.32 |
| EXOC3L4 | - | 14q32.32 |
| EXOC4 | membrane biogenesis; protein targeting to membrane; vesicle docking involved in exocytosis; synaptic transmission; establishment of cell polarity; oligodendrocyte differentiation; positive regulation of calcium-mediated signaling; regulation of protein transport; Golgi to transport vesicle transport | 7q31 |
| EXOC5 | exocytosis; post-Golgi vesicle-mediated transport; vesicle docking; protein transport | 14q22.3 |
| EXOC5P1 | - | 4q13.1 |
| EXOC6 | vesicle docking involved in exocytosis; protein transport | 10q23.33 |
| EXOC6B | protein transport; vesicle docking involved in exocytosis | 2p13.2 |
| EXOC7 | exocytosis; protein transport | 17q25.1 |
| EXOC7P1 | - | 4q25 |
| EXOC8 | protein transport; exocytosis | 1q42.2 |
| EXOG | - | 3p21.3 |
| EXOGP1 | - | 18q11.1 |
| EXOSC1 | RNA metabolic process; rRNA processing; gene expression; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 10q24 |
| EXOSC10 | nuclear polyadenylation-dependent rRNA catabolic process; maturation of 5.8S rRNA; histone mRNA catabolic process; nuclear retention of unspliced pre-mRNA at the site of transcription; nuclear mRNA surveillance; CUT catabolic process; cellular metabolic process; RNA processing; nucleobase-containing compound metabolic process; nuclear-transcribed mRNA catabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 1p36.22 |
| EXOSC2 | gene expression; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; positive regulation of cell growth; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; rRNA processing; mRNA metabolic process; RNA metabolic process | 9q34 |
| EXOSC3 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; CUT catabolic process; isotype switching; DNA deamination; rRNA processing; RNA metabolic process; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 9p11 |
| EXOSC3P1 | - | 21q22.11 |
| EXOSC3P2 | - | 19p13.2 |
| EXOSC4 | mRNA metabolic process; RNA metabolic process; gene expression; RNA processing; rRNA processing; nuclear-transcribed mRNA catabolic process; maturation of 5.8S rRNA; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; DNA deamination; nuclear mRNA surveillance; histone mRNA catabolic process; positive regulation of cell growth | 8q24.3 |
| EXOSC5 | rRNA processing; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; RNA processing; gene expression; RNA metabolic process; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; DNA deamination | 19q13.1 |
| EXOSC6 | isotype switching; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; rRNA processing; RNA processing; gene expression; RNA metabolic process; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; DNA deamination | 16q22.1 |
| EXOSC7 | RNA processing; RNA catabolic process; gene expression; RNA metabolic process; rRNA processing; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3p21.31 |
| EXOSC8 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; rRNA processing; RNA processing; gene expression; RNA metabolic process; mRNA metabolic process | 13q13.1 |
| EXOSC9 | mRNA metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process; rRNA processing; RNA processing; immune response; gene expression; RNA metabolic process; positive regulation of cell growth; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; nuclear mRNA surveillance; nuclear polyadenylation-dependent rRNA catabolic process | 4q27 |
| EXPH5 | positive regulation of exocytosis; positive regulation of protein secretion; intracellular protein transport; multivesicular body sorting pathway | 11q22.3 |
| EXT1 | glycosaminoglycan biosynthetic process; cellular polysaccharide biosynthetic process; skeletal system development; olfactory bulb development; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; heparan sulfate proteoglycan biosynthetic process; mesoderm development; endoderm development; brain development; axon guidance; gastrulation; signal transduction; ossification | 8q24.11 |
| EXT2 | signal transduction; glycosaminoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process; ossification; mesoderm formation; cell differentiation; cellular polysaccharide biosynthetic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | 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 | response to ionizing radiation; positive regulation of DNA repair; peptidyl-tyrosine dephosphorylation; protein sumoylation; histone dephosphorylation; chromatin modification; anatomical structure morphogenesis; sensory perception of sound; multicellular organismal development; regulation of transcription, DNA-dependent; double-strand break repair | 8q13.3 |
| EYA2 | DNA repair; regulation of transcription, DNA-dependent; apoptotic process; histone dephosphorylation; chromatin modification; multicellular organismal development; striated muscle tissue development; mesodermal cell fate specification; peptidyl-tyrosine dephosphorylation | 20q13.1 |
| EYA3 | double-strand break repair; regulation of transcription, DNA-dependent; visual perception; anatomical structure morphogenesis; response to ionizing radiation; chromatin modification; histone dephosphorylation; peptidyl-tyrosine dephosphorylation; positive regulation of DNA repair; multicellular organismal development | 1p36 |
| EYA4 | DNA repair; chromatin modification; anatomical structure morphogenesis; visual perception; multicellular organismal development; regulation of transcription, DNA-dependent | 6q23 |
| EYS | visual perception; response to stimulus | 6q12 |
| EZH1 | peptidyl-lysine methylation; chromatin modification; anatomical structure morphogenesis; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 17q21.1-q21.3 |
| EZH2 | chromatin organization; regulation of transcription, DNA-dependent; chromatin modification; histone methylation; negative regulation of transcription, DNA-dependent; negative regulation of retinoic acid receptor signaling pathway | 7q35-q36 |
| EZR | actin filament bundle assembly; establishment or maintenance of apical/basal cell polarity; epithelial cell differentiation; membrane to membrane docking; regulation of cell shape; axon guidance; leukocyte cell-cell adhesion; cytoskeletal anchoring at plasma membrane | 6q25.3 |
| F10 | positive regulation of protein kinase B signaling cascade; proteolysis; cellular protein metabolic process; post-translational protein modification; positive regulation of cell migration; peptidyl-glutamic acid carboxylation; blood coagulation, extrinsic pathway; blood coagulation, intrinsic pathway; blood coagulation | 13q34 |
| F10-AS1 | - | 13q34 |
| F11 | proteolysis; blood coagulation; blood coagulation, intrinsic pathway; regulation of blood coagulation; plasminogen activation; positive regulation of fibrinolysis | 4q35 |
| F11-AS1 | - | 4q35.2 |
| F11R | interspecies interaction between organisms; cell-cell junction organization; leukocyte migration; tight junction assembly; inflammatory response; epithelial cell differentiation; cell adhesion; cell junction assembly; blood coagulation | 1q21.2-q21.3 |
| F12 | positive regulation of fibrinolysis; Factor XII activation; proteolysis; blood coagulation; blood coagulation, intrinsic pathway; positive regulation of plasminogen activation; protein processing; protein autoprocessing; positive regulation of blood coagulation; zymogen activation; response to misfolded protein; plasma kallikrein-kinin cascade; innate immune response | 5q33-qter |
| F13A1 | platelet degranulation; platelet activation; peptide cross-linking; blood coagulation | 6p25.3-p24.3 |
| F13B | blood coagulation | 1q31-q32.1 |
| F2 | peptidyl-glutamic acid carboxylation; platelet activation; regulation of blood coagulation; positive regulation of phosphatidylinositol 3-kinase cascade; negative regulation of platelet activation; response to wounding; positive regulation of cell proliferation; regulation of cell shape; positive 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; blood coagulation, intrinsic pathway; blood coagulation; multicellular organismal development; cell surface receptor signaling pathway; acute-phase response; proteolysis; positive regulation of p | 11p11 |
| F2R | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; response to wounding; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of interleukin-8 secretion; positive regulation of collagen biosynthetic process; regulation of interleukin-1 beta production; response to lipopolysaccharide; positive regulation of cell migration; positive regulation of interleukin-6 secretion; positive regulation of blood coagulation; regulation of blood coagulation; platelet activation; death; positive regulation of phosphatidylinositol 3-kinase cascade; anatomical structure morphogenesis; positive regulation of Rho protein signal transduction; positive regulation of MAPK cascade; negative regulation of neuron apoptosis; thrombin receptor signaling pathway; positive regulation of ERK1 and ERK2 cascade; platelet dense granule organization; regulation of sensory perception of pain; positive regulation of calcium ion transport; elevation of cytosolic calcium ion concentra | 5q13 |
| F2RL1 | interleukin-1 beta secretion; positive regulation of JNK cascade; negative regulation of JNK cascade; regulation of JNK cascade; positive regulation of transcription from RNA polymerase II promoter; positive regulation of vasodilation; innate immune response; positive regulation of eosinophil degranulation; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of I-kappaB kinase/NF-kappaB cascade; neutrophil activation; chemokine (C-C motif) ligand 2 secretion; positive regulation of Rho protein signal transduction; negative regulation of toll-like receptor 3 signaling pathway; positive regulation of toll-like receptor 3 signaling pathway; positive regulation of toll-like receptor 4 signaling pathway; 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 of ERK1 and ERK2 cascade; leukocyte proliferation; positive regu | 5q13 |
| F2RL2 | thrombin receptor signaling pathway; platelet activation; response to wounding; blood coagulation | 5q13 |
| F2RL3 | signal transduction; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; blood coagulation; response to wounding; platelet activation; positive regulation of release of sequestered calcium ion into cytosol; platelet dense granule organization; thrombin receptor signaling pathway | 19p12 |
| F3 | positive regulation of platelet-derived growth factor receptor signaling pathway; response to mechanical stimulus; response to wounding; response to temperature stimulus; blood coagulation, extrinsic pathway; blood coagulation; aging; activation of cysteine-type endopeptidase activity involved in apoptotic process; anti-apoptosis; activation of blood coagulation via clotting cascade; activation of plasma proteins involved in acute inflammatory response; positive regulation of endothelial cell proliferation; positive regulation of smooth muscle cell migration; positive regulation of cell migration; response to estradiol stimulus; response to lipopolysaccharide; cellular response to hydrogen peroxide; response to low-density lipoprotein particle stimulus; positive regulation of protein kinase B signaling cascade; positive regulation of positive chemotaxis; positive regulation of angiogenesis; response to fluid shear stress | 1p22-p21 |
| F5 | platelet activation; blood circulation; blood coagulation; cell adhesion; platelet degranulation | 1q23 |
| F7 | blood coagulation, extrinsic pathway; blood coagulation; anti-apoptosis; proteolysis; positive regulation of leukocyte chemotaxis; 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; circadian rhythm | 13q34 |
| F8 | platelet degranulation; acute-phase response; cell adhesion; blood coagulation; blood coagulation, intrinsic pathway; platelet activation | Xq28 |
| FA2H | cell death; fatty acid biosynthetic process; sphingolipid metabolic process; transport; electron transport chain | 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 | small molecule metabolic process; cellular lipid metabolic process; positive regulation of fatty acid beta-oxidation; organ morphogenesis; positive regulation of cell proliferation; intestinal absorption; positive regulation of hydrolase activity | 2p11 |
| FABP2 | digestion; fatty acid metabolic process; intestinal absorption | 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 | cytokine production; brown fat cell differentiation; cellular response to lithium ion; negative regulation of protein kinase activity; lipid metabolic process; triglyceride catabolic process; cholesterol homeostasis; small molecule metabolic process; negative regulation of transcription, DNA-dependent; positive regulation of inflammatory response; white fat cell differentiation | 8q21 |
| FABP5 | glucose metabolic process; lipid metabolic process; phosphatidylcholine biosynthetic process; epidermis development; glucose transport | 8q21.13 |
| FABP5P10 | - | 2q23.3 |
| FABP5P12 | - | 4q32.1 |
| FABP5P14 | - | - |
| FABP5P3 | glucose transport; phosphatidylcholine biosynthetic process; lipid metabolic process; glucose metabolic process | 7q36.1 |
| FABP5P4 | - | 13q31.3 |
| FABP5P5 | - | 5q15 |
| FABP5P6 | - | 5q23.1 |
| FABP5P7 | - | 11q12.1 |
| FABP6 | bile acid and bile salt transport; negative regulation of cell proliferation; bile acid metabolic process; lipid metabolic process; small molecule metabolic process | 5q33.3-q34 |
| FABP7 | nervous system development; negative regulation of cell proliferation; cell proliferation in forebrain; neurogenesis; epithelial cell proliferation; prepulse inhibition | 6q22-q23 |
| FABP7P1 | - | 1q44 |
| FADD | cellular response to mechanical stimulus; positive regulation of apoptotic process; positive regulation of extrinsic apoptotic signaling pathway; extrinsic apoptotic signaling pathway; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; interspecies interaction between organisms; innate immune response; induction of apoptosis by extracellular signals; induction of apoptosis via death domain receptors; activation of pro-apoptotic gene products; positive regulation of interleukin-8 production; positive regulation of transcription from RNA polymerase II promoter; defense response to virus; positive regulation of type I interferon-mediated signaling pathway; necrotic cell death; positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction; positive regulation of tumor necrosis factor production | 11q13.3 |
| FADS1 | response to insulin stimulus; cellular lipid metabolic process; response to vitamin A; aging; electron transport chain; arachidonic acid metabolic process; response to organic cyclic compound; response to sucrose stimulus; cellular response to starvation; phospholipid biosynthetic process; response to nutrient; cell-cell signaling; response to stress; transport; unsaturated fatty acid biosynthetic process; regulation of transcription, DNA-dependent; small molecule metabolic process; regulation of cell differentiation; icosanoid biosynthetic process; oxidation-reduction process | 11q12.2-q13.1 |
| FADS2 | transport; electron transport chain; unsaturated fatty acid biosynthetic process | 11q12.2 |
| FADS3 | electron transport chain; transport; unsaturated fatty acid biosynthetic process | 11q12-q13.1 |
| FADS6 | fatty acid biosynthetic process | 17q25.1 |
| FAF1 | positive regulation of apoptotic process; proteasomal ubiquitin-dependent protein catabolic process; cytoplasmic sequestering of NF-kappaB; cell death; regulation of cell adhesion; positive regulation of protein complex assembly; regulation of protein catabolic process | 1p33 |
| FAF2 | response to unfolded protein | 5q35.2 |
| FAF2P1 | - | 10q23.32 |
| FAH | tyrosine catabolic process; aromatic amino acid family metabolic process; cellular nitrogen compound metabolic process; L-phenylalanine catabolic process; arginine catabolic process; small molecule metabolic process | 15q25.1 |
| FAHD1 | - | 16p13.3 |
| FAHD2A | - | 2q11.2 |
| FAHD2B | - | 2q11.2 |
| FAHD2CP | - | 2q11.1 |
| FAHD2P1 | - | 12q15 |
| FAIM | anti-apoptosis | 3q22.3 |
| FAIM2 | regulation of neuron apoptosis; cerebellar Purkinje cell differentiation; cerebellar granular layer development; cerebellar Purkinje cell layer development; cerebellum development; central nervous system development; anti-apoptosis; apoptotic process | 12q13 |
| FAM101A | - | 12q24.31 |
| FAM101B | - | 17p13 |
| FAM102A | - | 9q34.11 |
| FAM102B | - | 1p13.3 |
| FAM103A1 | mRNA capping; methylation; recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex | 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 | endosome organization; retrograde transport, endosome to Golgi; receptor recycling | 12q24.12 |
| FAM109B | receptor recycling; endosome organization; 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 | cell differentiation; regulation of transcription, DNA-dependent | 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 | response to stress; response to endoplasmic reticulum stress; positive regulation of translation; 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 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 4q22.1 |
| FAM13A-AS1 | - | 4q22.1 |
| FAM13B | regulation of small GTPase mediated signal transduction; 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; endosome to lysosome transport; endosome organization; lysosome organization; early endosome to late endosome transport | 11p15.4 |
| FAM160B1 | - | 10q25.3 |
| FAM160B2 | - | 8p21.3 |
| FAM161A | visual perception; response to stimulus | 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 | positive regulation of DNA repair; G2/M transition DNA damage checkpoint; chromatin modification; response to ionizing radiation; double-strand break repair | 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 | transport; retrograde transport, endosome to Golgi | 10q11.23 |
| FAM21C | retrograde transport, endosome to Golgi; transport | 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 | apoptotic process; insulin secretion | 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; double-strand break repair via homologous recombination; nucleotide-excision repair, DNA incision; DNA repair | 15q13.2-q13.3 |
| FANCA | DNA repair; protein complex assembly; male meiosis; male gonad development; female gonad development; regulation of cell proliferation | 16q24.3 |
| FANCB | DNA repair | Xp22.2 |
| FANCC | DNA repair; removal of superoxide radicals; germ cell development; protein complex assembly; myeloid cell homeostasis; nucleotide-excision repair | 9q22.3 |
| FANCD2 | gamete generation; synapsis; cell cycle; DNA repair; response to gamma radiation | 3p26 |
| FANCD2OS | - | 3p25.3 |
| FANCE | DNA repair | 6p22-p21 |
| FANCF | DNA repair | 11p15 |
| FANCG | cell cycle checkpoint; ovarian follicle development; DNA repair; mitochondrion organization; spermatid development; response to radiation | 9p13 |
| FANCI | DNA repair; cell cycle | 15q26.1 |
| FANCL | protein ubiquitination; DNA repair | 2p16.1 |
| FANCM | DNA repair; replication fork processing; resolution of meiotic recombination intermediates | 14q21.2 |
| FANK1 | - | 10q26.2 |
| FAP | proteolysis; metabolic process; negative regulation of extracellular matrix disassembly; endothelial cell migration; regulation of fibrinolysis | 2q23 |
| FAR1 | small molecule metabolic process; cellular lipid metabolic process; wax biosynthetic process; lipid biosynthetic process; ether lipid biosynthetic process | 11p15.2 |
| FAR1P1 | - | 13q31.3 |
| FAR2 | lipid biosynthetic process; ether lipid biosynthetic process; cellular lipid metabolic process; small molecule metabolic process | 12p11.22 |
| FAR2P1 | - | 2q21.1 |
| FAR2P2 | - | 2q21.1 |
| FARP1 | regulation of Rho protein signal transduction; negative regulation of phosphatase activity | 13q32.2 |
| FARP2 | axon guidance; regulation of Rho protein signal transduction; neuron remodeling; Rac protein signal transduction | 2q37.3 |
| FARS2 | tRNA processing; tRNA aminoacylation; tRNA aminoacylation for protein translation; phenylalanyl-tRNA aminoacylation; gene expression | 6p25.1 |
| FARSA | tRNA aminoacylation for protein translation; phenylalanyl-tRNA aminoacylation; gene expression | 19p13.2 |
| FARSB | phenylalanyl-tRNA aminoacylation; gene expression; translation; tRNA aminoacylation for protein translation | 2q36.1 |
| FAS | positive regulation of apoptotic process; gene expression; positive regulation of necrotic cell death; B cell mediated immunity; dendrite regeneration; positive regulation of protein homooligomerization; response to lipopolysaccharide; response to cytokine stimulus; regulation of cell proliferation; response to drug; cellular response to hyperoxia; ovulation cycle; regulation of apoptotic process; response to inorganic substance; response to peptide hormone stimulus; response to estrogen stimulus; negative thymic T cell selection; regulation of lymphocyte differentiation; regulation of myeloid cell differentiation; 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; activation of pro-apoptotic gene products; response to hypoxia; immunoglobulin production; renal system process; protein complex assembly; apoptotic process; anti-apoptosis | 10q24.1 |
| FAS-AS1 | - | 10q24.1 |
| FASLG | induction of apoptosis; apoptotic process; activation of pro-apoptotic gene products; response to growth factor stimulus; activation of cysteine-type endopeptidase activity involved in apoptotic process; inflammatory cell apoptosis; signal transduction; induction of apoptosis via death domain receptors; negative regulation of angiogenesis; cellular chloride ion homeostasis; response to lipopolysaccharide; cellular response to stress; positive regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of neuron apoptosis; positive regulation of epidermal growth factor receptor signaling pathway; retinal cell programmed cell death; endosomal lumen acidification; induction of necroptosis of activated-T cells; induction of necroptosis by extracellular signals; necrotic cell death; immune response; cell-cell signaling; positive regulation of cell proliferation; induction of apoptosis by extracellular signals | 1q23 |
| FASN | fatty acid biosynthetic process; pantothenate metabolic process; triglyceride biosynthetic process; positive regulation of cellular metabolic process; vitamin metabolic process; long-chain fatty-acyl-CoA biosynthetic process; fatty acid metabolic process; energy reserve metabolic process; water-soluble vitamin metabolic process; small molecule metabolic process; cellular lipid metabolic process | 17q25 |
| FASTK | protein phosphorylation; apoptotic process; induction of apoptosis by extracellular signals; regulation of RNA splicing | 7q35 |
| FASTKD1 | cellular respiration | 2q31 |
| FASTKD2 | cellular respiration | 2q33.3 |
| FASTKD3 | cellular respiration | 5p15.31 |
| FASTKD5 | cellular respiration | 20p13 |
| FAT1 | anatomical structure morphogenesis; cell migration; cell-cell adhesion; cell-cell signaling; establishment or maintenance of cell polarity; homophilic cell adhesion; 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 | cell adhesion; homophilic cell adhesion | 4q28.1 |
| FATE1 | - | Xq28 |
| FAU | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; viral transcription; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; cellular protein metabolic process | 11q13 |
| FAUP1 | - | 18q22.3 |
| FAXC | - | 6q16.2 |
| FAXDC2 | - | 5q31-q32 |
| FBF1 | apical junction assembly; establishment of epithelial cell polarity | 17q25.1 |
| FBL | snoRNA metabolic process; tRNA processing; rRNA processing | 19q13.1 |
| FBLIM1 | regulation of cell shape; cell adhesion; cell junction assembly | 1p36.21 |
| FBLL1 | tRNA processing; rRNA processing | 5q34 |
| FBLN1 | extracellular matrix organization; embryo implantation; interspecies interaction between organisms | 22q13.31 |
| FBLN2 | - | 3p25.1 |
| FBLN5 | protein localization at cell surface; elastic fiber assembly; extracellular matrix organization; regulation of removal of superoxide radicals; cell-matrix adhesion; cell adhesion | 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 | embryonic limb 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; anatomical structure morphogenesis | 5q23-q31 |
| FBN3 | - | 19p13 |
| FBP1 | small molecule metabolic process; cellular response to drug; cellular response to insulin stimulus; carbohydrate metabolic process; negative regulation of cell growth; protein homotetramerization; dephosphorylation; regulation of gluconeogenesis; negative regulation of glycolysis; negative regulation of Ras protein signal transduction; gluconeogenesis; glucose metabolic process; fructose 6-phosphate metabolic process; fructose metabolic process; cellular response to magnesium ion | 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 | positive regulation of BMP signaling pathway; G2/M transition of mitotic cell cycle; dorsal/ventral pattern formation; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; bone mineralization | 10q24.32 |
| FBXL16 | - | 16p13.3 |
| FBXL17 | - | 5q21.3 |
| FBXL18 | - | 7p22.2 |
| FBXL19 | - | 16p11.2 |
| FBXL19-AS1 | - | 16p11.2 |
| FBXL2 | protein modification process; protein ubiquitination; proteolysis; interspecies interaction between organisms | 3p22.3 |
| FBXL20 | - | 17q12 |
| FBXL21 | rhythmic process; protein ubiquitination | 5q31 |
| FBXL22 | - | 15q22.31 |
| FBXL3 | protein ubiquitination; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; rhythmic process; regulation of circadian rhythm | 13q22 |
| FBXL4 | ubiquitin-dependent protein catabolic process | 6q16.1-q16.3 |
| FBXL5 | protein ubiquitination; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; iron ion homeostasis | 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 | sensory perception of sound; protein ubiquitination; ubiquitin-dependent protein catabolic process; protein modification process; peptidyl-arginine N-methylation | 2p16.3 |
| FBXO15 | - | 18q22.3 |
| FBXO16 | - | 8p21.1 |
| FBXO17 | protein catabolic process | 19q13.2 |
| FBXO18 | - | 10p15.1 |
| FBXO2 | ER-associated protein catabolic process; protein ubiquitination; protein catabolic process; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; regulation of protein ubiquitination; glycoprotein catabolic process; ubiquitin-dependent protein catabolic process; proteolysis; protein modification process | 1p36.22 |
| FBXO21 | ubiquitin-dependent protein catabolic process; protein ubiquitination | 12q24.22 |
| FBXO22 | protein ubiquitination; protein polyubiquitination; protein modification process; ubiquitin-dependent protein catabolic process; regulation of myotube differentiation; nucleocytoplasmic transport; positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; cellular response to starvation | 15q24.2 |
| FBXO24 | protein ubiquitination | 7q22 |
| FBXO25 | protein ubiquitination | 8p23.3 |
| FBXO27 | protein catabolic process | 19q13.2 |
| FBXO28 | - | 1q42.11 |
| FBXO3 | protein ubiquitination; proteolysis | 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 | positive regulation of protein ubiquitination; protein ubiquitination; ubiquitin-dependent protein catabolic process; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; telomere maintenance; protein polyubiquitination | 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 | proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein ubiquitination; nervous system development; multicellular organismal development; response to DNA damage stimulus | 3q29 |
| FBXO46 | - | 19q13.3 |
| FBXO47 | - | 17q12|17q12 |
| FBXO48 | - | 2p13.3 |
| FBXO5 | regulation of meiosis; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; regulation of transcription involved in G1/S phase of 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; M phase of mitotic cell cycle; mitotic metaphase; mitotic cell cycle; oocyte maturation; G1/S transition of mitotic cell cycle; vesicle organization; microtubule polymerization; regulation of mitotic cell cycle; mitotic metaphase/anaphase transition; spindle assembly; spindle assembly involved in female meiosis I | 6q25.2 |
| FBXO6 | glycoprotein catabolic process; DNA damage checkpoint; DNA repair; proteolysis; response to unfolded protein; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; ER-associated protein catabolic process; protein catabolic process | 1p36.22 |
| FBXO7 | cell death; protein ubiquitination; regulation of protein stability; ubiquitin-dependent protein catabolic process | 22q12-q13 |
| FBXO8 | ubiquitin-dependent protein catabolic process; regulation of ARF protein signal transduction | 4q34.1 |
| FBXO9 | protein ubiquitination | 6p12.3-p11.2 |
| FBXW10 | - | 17p12 |
| FBXW11 | protein polyubiquitination; negative regulation of transcription, DNA-dependent; positive regulation of proteolysis; proteasomal ubiquitin-dependent protein catabolic process; positive regulation of circadian rhythm; negative regulation of NF-kappaB import into nucleus; protein destabilization; positive regulation of transcription, DNA-dependent; rhythmic process; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; Wnt receptor signaling pathway; cell cycle; protein dephosphorylation | 5q35.1 |
| FBXW11P1 | - | 21q22.11 |
| FBXW12 | - | 3p21.31 |
| FBXW2 | proteolysis; protein ubiquitination; protein modification process | 9q34 |
| FBXW4 | embryonic digit morphogenesis; ubiquitin-dependent protein catabolic process; multicellular organismal development; Wnt receptor signaling pathway; embryonic limb morphogenesis; positive regulation of mesenchymal cell proliferation; limb development; cartilage development | 10q24 |
| FBXW4P1 | - | 22q11 |
| FBXW5 | centrosome duplication; proteasomal ubiquitin-dependent protein catabolic process; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination | 9q34.3 |
| FBXW7 | lipid homeostasis; regulation of lipid storage; negative regulation of hepatocyte proliferation; negative regulation of Notch signaling pathway; negative regulation of SREBP-mediated signaling pathway; positive regulation of epidermal growth factor-activated receptor activity; interspecies interaction between organisms; cellular response to UV; regulation of protein localization; negative regulation of DNA endoreduplication; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; negative regulation of triglyceride biosynthetic process; positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; sister chromatid cohesion; response to DNA damage stimulus; vasculature development; protein stabilization; positive regulation of ERK1 and ERK2 cascade | 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 type IIa hypersensitivity; positive regulation of immune response; positive regulation of phagocytosis; mast cell activation; positive regulation of mast cell degranulation; defense response to bacterium; antigen processing and presentation of exogenous peptide antigen via MHC class I; negative regulation of mast cell apoptosis; positive regulation of mast cell cytokine production; positive regulation of tumor necrosis factor production; positive regulation of interleukin-6 production; positive regulation of interleukin-10 production; leukocyte migration; 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; neutrophil chemotaxis | 1q23 |
| FCER2 | positive regulation of humoral immune response mediated by circulating immunoglobulin; positive regulation of nitric-oxide synthase biosynthetic process; positive regulation of killing of cells of other organism; positive regulation of nitric-oxide synthase activity | 19p13.3 |
| FCF1 | rRNA processing | 14q24.3 |
| FCF1P1 | - | - |
| FCF1P7 | - | - |
| FCF1P8 | - | - |
| FCGBP | - | 19q13.1 |
| FCGR1A | interferon-gamma-mediated signaling pathway; innate immune response; antigen processing and presentation of exogenous peptide antigen via MHC class I; cytokine-mediated signaling pathway; signal transduction; 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 | regulation of immune response; immune response | 1q23 |
| FCGR3B | immune response | 1q23 |
| FCGRT | female pregnancy; antigen processing and presentation; immune response | 19q13.3 |
| FCHO1 | - | 19p13.11 |
| FCHO2 | - | 5q13.2 |
| FCHSD1 | - | 5q31.3 |
| FCHSD2 | - | 11q13.4 |
| FCMR | cellular defense response; anti-apoptosis | 1q32.1 |
| FCN1 | signal transduction; opsonization | 9q34 |
| FCN2 | complement activation, lectin pathway; signal transduction; opsonization | 9q34.3 |
| FCN3 | complement activation, lectin pathway; signal transduction | 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 | farnesyl diphosphate metabolic process; steroid biosynthetic process; cholesterol biosynthetic process; isoprenoid biosynthetic process; cellular lipid metabolic process; small molecule metabolic 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 | electron transport chain; generation of precursor metabolites and energy; transport; regulation of catalytic activity; adrenal gland development; response to gonadotropin stimulus; cellular response to leptin stimulus; cellular response to epinephrine stimulus; cellular response to organic cyclic compound; NADPH oxidation; positive regulation of oxidoreductase activity | 11q22 |
| FDX1L | electron transport chain; transport | 19p13.2 |
| FDXACB1 | phenylalanyl-tRNA aminoacylation; tRNA processing | 11q23.1 |
| FDXR | steroid biosynthetic process; NADPH oxidation; oxidation-reduction process; electron transport chain; cholesterol metabolic process; transport; generation of precursor metabolites and energy | 17q25.1 |
| FECH | protoporphyrinogen IX metabolic process; generation of precursor metabolites and energy; porphyrin-containing compound metabolic process; heme biosynthetic process; response to light stimulus; small molecule metabolic process | 18q21.3 |
| FEM1A | regulation of ubiquitin-protein ligase activity; negative regulation of inflammatory response; protein ubiquitination | 19p13.3 |
| FEM1AP2 | - | 18p11.21 |
| FEM1AP3 | - | 6q21 |
| FEM1B | protein ubiquitination; regulation of DNA damage checkpoint; induction of apoptosis; regulation of apoptotic process; regulation of ubiquitin-protein ligase activity; branching involved in prostate gland morphogenesis; epithelial cell maturation involved in prostate gland development | 15q22 |
| FEM1C | - | 5q22 |
| FEN1 | phosphatidylinositol-mediated signaling; S phase of mitotic cell cycle; mitotic cell cycle; telomere maintenance via recombination; telomere maintenance; DNA replication; DNA strand elongation involved in DNA replication; DNA repair; base-excision repair; double-strand break repair; UV protection; telomere maintenance via semi-conservative replication; DNA replication, removal of RNA primer | 11q12 |
| FEN1P1 | - | 1p22.2 |
| FENDRR | - | 16q24.1 |
| FER | 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; positive regulation of actin filament polymerization; negative regulation of mast cell activation involved in immune response; microtubule cytoskeleton organization; protein phosphorylation; chemotaxis; cell adhesion; positive regulation of cell proliferation; regulation of lamellipodium assembly; peptidyl-tyrosine phosphorylation; positive regulation of cell migration | 5q21 |
| FER1L4 | - | 20q11.22 |
| FER1L5 | - | 2q11.2 |
| FER1L6 | - | 8q24.1 |
| FER1L6-AS2 | - | 8q24.13 |
| FERMT1 | cell adhesion; keratinocyte proliferation; keratinocyte migration; establishment of epithelial cell polarity | 20p12.3 |
| FERMT2 | cell junction assembly; actin cytoskeleton organization; regulation of cell shape; cell adhesion | 14q22.1 |
| FERMT3 | leukocyte cell-cell adhesion; integrin activation; regulation of cell-cell adhesion mediated by integrin; platelet aggregation; cell adhesion | 11q13.1 |
| FERP1 | - | Xq25 |
| FES | positive regulation of actin cytoskeleton reorganization; regulation of cell motility; regulation of vesicle-mediated transport; protein autophosphorylation; regulation of cell shape; 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; cell proliferation; axon guidance; multicellular organismal development; protein phosphorylation | 15q26.1 |
| FETUB | - | 3q27 |
| FEV | positive regulation of transcription, DNA-dependent; cell differentiation; nervous system development; regulation of transcription, DNA-dependent; multicellular organismal development; transcription from RNA polymerase II promoter | 2q36 |
| FEZ1 | positive regulation of neuron differentiation; axon guidance; nervous system development; cell adhesion; transport; cellular response to growth factor stimulus; establishment of mitochondrion localization; positive regulation of neuron projection development | 11q24.2 |
| FEZ2 | signal transduction; nervous system development; axon guidance | 2p21 |
| FEZF1 | negative regulation of cell proliferation; multicellular organismal development; nervous system development; axon guidance; positive regulation of neuron differentiation; telencephalon development; olfactory bulb development; forebrain anterior/posterior pattern specification; cell differentiation; positive regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; neuron migration | 7q31.32 |
| FEZF1-AS1 | - | 7q31.32 |
| FEZF2 | negative regulation of cell proliferation; negative regulation of transcription from RNA polymerase II promoter; multicellular organismal development; nervous system development; axon guidance; axonal fasciculation; locomotory behavior; dendrite development; telencephalon development; dentate gyrus development; forebrain anterior/posterior pattern specification; cell differentiation; positive regulation of neuron differentiation; positive regulation of transcription, DNA-dependent | 3p14.2 |
| FFAR4 | - | 10q23.33 |
| FGA | protein polymerization; response to calcium ion; platelet activation; blood coagulation; signal transduction; platelet degranulation | 4q28 |
| FGB | platelet degranulation; signal transduction; blood coagulation; platelet activation; protein polymerization; response to calcium ion | 4q28 |
| FGD1 | regulation of small GTPase mediated signal transduction; multicellular organismal development; nerve growth factor receptor signaling pathway; regulation of cell shape; induction of apoptosis by extracellular signals; filopodium assembly; regulation of Cdc42 GTPase activity; regulation of Rho protein signal transduction; actin cytoskeleton organization; organ morphogenesis; small GTPase mediated signal transduction; signal transduction; cytoskeleton organization; apoptotic process | Xp11.21 |
| FGD2 | regulation of cell shape; regulation of small GTPase mediated signal transduction; apoptotic process; cytoskeleton organization; 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; induction of apoptosis by extracellular signals | 6p21.2 |
| FGD3 | small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; apoptotic process; cytoskeleton organization; regulation of cell shape; induction of apoptosis by extracellular signals; actin cytoskeleton organization; regulation of Rho protein signal transduction; regulation of Cdc42 GTPase activity; filopodium assembly | - |
| FGD4 | activation of JUN kinase activity; small GTPase mediated signal transduction; regulation of cell shape; microspike assembly; induction of apoptosis by extracellular signals; lamellipodium assembly; actin cytoskeleton organization; regulation of Rho protein signal transduction; regulation of Cdc42 GTPase activity; filopodium assembly; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; cytoskeleton organization; apoptotic process | 12p11.21 |
| FGD5 | cytoskeleton organization; regulation of Cdc42 GTPase activity; regulation of Rho protein signal transduction; actin cytoskeleton organization; regulation of cell shape; filopodium assembly | 3p25.1 |
| FGD5-AS1 | - | - |
| FGD5P1 | - | 3p25.1 |
| FGD6 | cytoskeleton organization; regulation of cell shape; actin cytoskeleton organization; regulation of Rho protein signal transduction; regulation of Cdc42 GTPase activity; filopodium assembly | 12q22 |
| FGF1 | positive regulation of epithelial cell proliferation; positive regulation of cell division; branch elongation involved in ureteric bud branching; mesonephric epithelium development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell adhesion; positive regulation of angiogenesis; cellular response to heat; positive regulation of cholesterol biosynthetic process; positive regulation of cell migration; positive regulation of protein phosphorylation; nervous system development; multicellular organismal development; positive regulation of cell proliferation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; anatomical structure morphogenesis; positive regulation of intracellular protein kinase cascade; cell differentiation; lung development; organ induction; signal transduction | 5q31 |
| FGF10-AS1 | - | 5p12 |
| FGF11 | signal transduction; cell-cell signaling; nervous system development | 17p13.1 |
| FGF12 | heart development; fibroblast growth factor receptor signaling pathway; nervous system development; cell-cell signaling; JNK cascade; signal transduction | 3q28 |
| FGF12-AS3 | - | - |
| FGF13 | MAPK cascade; positive regulation of protein phosphorylation; signal transduction; cell-cell signaling; nervous system development | Xq26.3 |
| FGF13-AS1 | - | Xq26.3 |
| FGF14 | cell death; signal transduction; JNK cascade; cell-cell signaling; nervous system development; fibroblast growth factor receptor signaling pathway | 13q34 |
| FGF14-AS2 | - | 13q33.1 |
| FGF17 | nervous system development; signal transduction; cell-cell signaling; multicellular organismal development; positive regulation of cell proliferation; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway | 8p21 |
| FGF18 | endochondral ossification; intramembranous ossification; chondrocyte development; signal transduction; cell-cell signaling; positive regulation of cell proliferation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; anatomical structure morphogenesis; lung development; positive regulation of vascular endothelial growth factor receptor signaling pathway; positive regulation of chondrocyte differentiation; positive regulation of ERK1 and ERK2 cascade; angiogenesis; ossification | 5q34 |
| FGF19 | heart development; fibroblast growth factor receptor signaling pathway; positive regulation of glucose import; neural crest cell migration; nervous system development; positive regulation of JNK cascade; positive regulation of ERK1 and ERK2 cascade; negative regulation of bile acid biosynthetic process; insulin receptor signaling pathway; positive regulation of cell proliferation | 11q13.1 |
| FGF2 | Ras protein signal transduction; synaptic transmission; nervous system development; positive regulation of cell proliferation; negative regulation of cell proliferation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; organ morphogenesis; intracellular protein kinase cascade; positive regulation of phosphatidylinositol 3-kinase activity; signal transduction; chemotaxis; apoptotic process; C21-steroid hormone biosynthetic process; glial cell differentiation; phosphatidylinositol biosynthetic process; cell migration involved in sprouting angiogenesis; positive regulation of endothelial cell proliferation; positive regulation of protein phosphorylation; organ induction; branching involved in ureteric bud morphogenesis; MAPK import into nucleus; activation of MAPK activity; activation of MAPKK activity; regulation of retinal cell programmed cell death; negative regulation of blood vessel endothelial cell migration; positive regulation of blood vessel endothelial cell migra | 4q26 |
| FGF20 | inner ear receptor cell differentiation; positive regulation of ERK1 and ERK2 cascade; regulation of cardiac muscle cell proliferation; cell differentiation; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; positive regulation of cell proliferation; cell-cell signaling; signal transduction | 8p22 |
| FGF21 | positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway; positive regulation of ERK1 and ERK2 cascade; positive regulation of glucose import; positive regulation of cell proliferation; cell-cell signaling; signal transduction | 19q13.33 |
| FGF22 | cell differentiation; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway | 19p13.3 |
| FGF23 | insulin receptor signaling pathway; positive regulation of ERK1 and ERK2 cascade; phosphate-containing compound metabolic process; negative regulation of bone mineralization; fibroblast growth factor receptor signaling pathway; regulation of phosphate transport; positive regulation of vitamin D 24-hydroxylase activity; cell differentiation; cellular phosphate ion homeostasis; vitamin D catabolic process; negative regulation of osteoblast differentiation; phosphate ion homeostasis; negative regulation of hormone secretion; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway; positive regulation of transcription, DNA-dependent | 12p13.3 |
| FGF3 | otic vesicle formation; organ induction; signal transduction; cell-cell signaling; multicellular organismal development; positive regulation of cell proliferation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; anatomical structure morphogenesis; cell differentiation; tail morphogenesis; thymus development; semicircular canal morphogenesis; positive regulation of cell division; negative regulation of cardiac muscle tissue development | 11q13 |
| FGF5 | fibroblast growth factor receptor signaling pathway; cell-cell signaling; nervous system development; cell proliferation; positive regulation of cell proliferation; positive regulation of cell division; signal transduction involved in regulation of gene expression; glial cell differentiation; insulin receptor signaling pathway | 4q21 |
| FGF6 | positive regulation of cell division; signal transduction; positive regulation of cell proliferation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; cell differentiation; myoblast differentiation; cell proliferation; multicellular organismal development; cell-cell signaling; angiogenesis; cartilage condensation | 12p13 |
| FGF7 | wound healing; lung development; hair follicle morphogenesis; actin cytoskeleton reorganization; protein localization at cell surface; fibroblast growth factor receptor signaling pathway; positive regulation of epithelial cell proliferation; ovarian follicle development; positive regulation of keratinocyte proliferation; mesenchymal cell proliferation; response to wounding; phospholipid biosynthetic process; epidermis development; phosphatidylcholine biosynthetic process; signal transduction; positive regulation of cell proliferation; insulin receptor signaling pathway; secretion by lung epithelial cell involved in lung growth; regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling; positive regulation of epithelial cell proliferation involved in lung morphogenesis; branching involved in salivary gland morphogenesis; positive regulation of cell division; positive regulation of keratinocyte migration; surfactant homeostasis; positive regulation of peptidyl-tyrosine | 15q21.2 |
| FGF7P1 | - | 18p11.21 |
| FGF8 | mesonephros development; anatomical structure morphogenesis; outflow tract septum morphogenesis; multicellular organismal development; gastrulation; positive regulation of cell proliferation; insulin receptor signaling pathway; gonad development; fibroblast growth factor receptor signaling pathway; metanephros development; odontogenesis; positive regulation of cell division; negative regulation of cardiac muscle tissue development; bone development; neuroepithelial cell differentiation; dopaminergic neuron differentiation | 10q24 |
| FGF9 | male gonad development; positive regulation of MAPK cascade; inner ear morphogenesis; positive regulation of vascular endothelial growth factor receptor signaling pathway; embryonic limb morphogenesis; male sex determination; negative regulation of Wnt receptor signaling pathway; positive regulation of gene expression; protein import into nucleus; 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 canonical Wnt receptor signaling pathway; lung-associated mesenchyme development; positive regulation of cardiac muscle cell proliferation; insulin receptor signaling pathway; positive regulation of cell proliferation; cell-cell signaling; signal transduction; fibroblast growth factor receptor signaling pathway; chondrocyte differentiation; positive regulation of mesenchymal cell | 13q11-q12 |
| FGFBP1 | positive regulation of fibroblast growth factor receptor signaling pathway; cell-cell signaling; positive regulation of cell proliferation; signal transduction; negative regulation of cell proliferation | 4p15.32 |
| FGFBP2 | - | 4p16 |
| FGFBP3 | positive regulation of fibroblast growth factor receptor signaling pathway; positive regulation of vascular permeability | 10q23.32 |
| FGFR1 | insulin receptor signaling pathway; positive regulation of MAP kinase activity; positive regulation of cell proliferation; axon guidance; protein phosphorylation; regulation of transcription, DNA-dependent; neuron migration; skeletal system development; MAPK cascade; regulation of cell differentiation; positive regulation of MAPK cascade; positive regulation of neuron differentiation; protein autophosphorylation; phosphatidylinositol-mediated signaling; skeletal system morphogenesis; chordate embryonic development; fibroblast growth factor receptor signaling pathway; positive regulation of phospholipase activity; positive regulation of phospholipase C activity; positive regulation of phosphatidylinositol 3-kinase cascade; cell migration; peptidyl-tyrosine phosphorylation | 8p12 |
| FGFR1OP | positive regulation of cell growth; positive regulation of cell proliferation; positive regulation of cell migration; microtubule anchoring; negative regulation of protein tyrosine kinase activity; mitotic cell cycle; G2/M transition of mitotic cell cycle; negative regulation of protein kinase activity | 6q27 |
| FGFR1OP2 | response to wounding | 12p11.23 |
| FGFR2 | lung development; prostate epithelial cord elongation; ventricular cardiac muscle tissue morphogenesis; positive regulation of cardiac muscle cell proliferation; limb bud formation; bone development; bone morphogenesis; branching involved in prostate gland morphogenesis; branching involved in salivary gland morphogenesis; bud elongation involved in lung branching; lung lobe morphogenesis; lung-associated mesenchyme development; positive regulation of epithelial cell proliferation involved in lung morphogenesis; prostate gland morphogenesis; positive regulation of cell division; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis; squamous basal epithelial stem cell differentiation involved in prostate gland acinus development; fibroblast growth factor receptor signaling pathway involved in mammary gland specification; lateral sprouting from an epithelium; mammary gland bud formation; epithelial cell proliferation involved in salivary gland morphogenesis; branch elongation | 10q26 |
| FGFR3 | peptidyl-tyrosine phosphorylation; positive regulation of phospholipase activity; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; positive regulation of cell proliferation; positive regulation of phosphatidylinositol 3-kinase activity; JAK-STAT cascade; endochondral bone growth; chondrocyte differentiation; endochondral ossification; skeletal system development; MAPK cascade; positive regulation of tyrosine phosphorylation of Stat1 protein; positive regulation of tyrosine phosphorylation of Stat3 protein; regulation of apoptotic process; positive regulation of MAPK cascade; protein autophosphorylation; negative regulation of developmental growth; bone morphogenesis; positive regulation of ERK1 and ERK2 cascade; bone maturation; chondrocyte proliferation | 4p16.3 |
| FGFR3P1 | - | 6p21.33 |
| FGFR3P5 | - | - |
| FGFR3P6 | - | - |
| FGFR4 | regulation of lipid metabolic process; glucose homeostasis; positive regulation of proteolysis; protein autophosphorylation; positive regulation of metalloenzyme activity; positive regulation of DNA biosynthetic process; regulation of cholesterol homeostasis; regulation of bile acid biosynthetic process; positive regulation of ERK1 and ERK2 cascade; phosphate ion homeostasis; cell migration; regulation of extracellular matrix disassembly; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; positive regulation of cell proliferation; peptidyl-tyrosine phosphorylation | 5q35.1-qter |
| FGFRL1 | protein phosphorylation; negative regulation of cell proliferation; fibroblast growth factor receptor signaling pathway; ventricular septum morphogenesis; diaphragm development; heart valve morphogenesis; regulation of cell growth; skeletal system development | 4p16 |
| FGG | signal transduction; response to calcium ion; protein polymerization; platelet activation; blood coagulation; platelet degranulation | 4q28 |
| FGGY | neuron homeostasis; cell death; carbohydrate metabolic process | 1p32.1 |
| FGL1 | signal transduction | 8p22 |
| FGL2 | signal transduction | 7q11.23 |
| FGR | defense response to Gram-positive bacterium; regulation of protein kinase activity; protein autophosphorylation; positive regulation of cytokine secretion; regulation of phagocytosis; regulation of innate immune response; positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of mast cell degranulation; positive regulation of cell migration; peptidyl-tyrosine phosphorylation; positive regulation of phosphatidylinositol 3-kinase cascade; regulation of cell shape; blood coagulation; integrin-mediated signaling pathway; protein phosphorylation; immune response-regulating cell surface receptor signaling pathway; response to virus | 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 | diadenosine triphosphate catabolic process; nucleotide metabolic process; DNA replication | 3p14.2 |
| FHL1 | muscle organ development; negative regulation of G2/M transition of mitotic cell cycle; organ morphogenesis; cell differentiation; negative regulation of cell growth; negative regulation of G1/S transition of mitotic cell cycle; multicellular organismal development | Xq26 |
| FHL2 | androgen receptor signaling pathway; heart trabecula formation; ventricular cardiac muscle cell development; atrial cardiac muscle cell development; positive regulation of transcription, DNA-dependent; small molecule metabolic process; cellular lipid metabolic process; negative regulation of apoptotic process; response to hormone stimulus; osteoblast differentiation; negative regulation of transcription from RNA polymerase II promoter | 2q12.2 |
| FHL3 | muscle organ development; actin cytoskeleton organization | 1p34 |
| FHL5 | - | 6q16.1-q16.3 |
| FHOD1 | cellular component organization; actin cytoskeleton organization; positive regulation of transcription from RNA polymerase II promoter; 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; neuron development; phosphatidylinositol metabolic process; pigmentation; positive regulation of neuron projection development; cell death; vacuole organization | 6q21 |
| FIGF | cell differentiation; vascular endothelial growth factor receptor signaling pathway; positive regulation of interleukin-6 production; regulation of vascular endothelial growth factor receptor signaling pathway; platelet activation; positive chemotaxis; induction of positive chemotaxis; positive regulation of cell division; positive regulation of mast cell chemotaxis; response to interleukin-1; platelet degranulation; blood coagulation; multicellular organismal development; positive regulation of cell proliferation; response to hypoxia; angiogenesis | Xp22.31 |
| FIGLA | oocyte development; regulation of transcription, DNA-dependent; multicellular organismal development; oogenesis; cell differentiation | 2p13.3 |
| FIGN | locomotory behavior | 2q24.3 |
| FIGNL1 | negative regulation of apoptotic process; ATP metabolic process; osteoblast proliferation; osteoblast differentiation; regulation of cell cycle | 7p12.1 |
| FIGNL2 | - | 12q13.13 |
| FILIP1 | - | 6q14.1 |
| FILIP1L | - | 3q12.1 |
| FIP1L1 | mRNA processing | 4q12 |
| FIRRE | - | Xq26.2 |
| FIS1 | mitochondrial fission; mitochondrion degradation; release of cytochrome c from mitochondria; apoptotic process; elevation of cytosolic calcium ion concentration; mitochondrial fragmentation involved in apoptosis; elevation of mitochondrial calcium ion concentration; positive regulation of intrinsic apoptotic signaling pathway; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; calcium-mediated signaling using intracellular calcium source; reduction of endoplasmic reticulum calcium ion concentration; peroxisome fission | 7q22.1 |
| FITM1 | lipid particle organization; positive regulation of sequestering of triglyceride | 14q12 |
| FITM2 | cellular triglyceride homeostasis; lipid particle organization; regulation of cell morphogenesis; positive regulation of sequestering of triglyceride; regulation of triglyceride biosynthetic process; cytoskeleton organization | 20q13.12 |
| FIZ1 | regulation of transcription, DNA-dependent | 19q13.42 |
| FJX1 | - | 11p13 |
| FKBP10 | protein peptidyl-prolyl isomerization; protein folding; peptidyl-proline modification | 17q21.2 |
| FKBP11 | protein peptidyl-prolyl isomerization; peptidyl-proline modification; protein folding | 12q13.12 |
| FKBP14 | activation of signaling protein activity involved in unfolded protein response; protein peptidyl-prolyl isomerization; protein folding; endoplasmic reticulum unfolded protein response; peptidyl-proline modification | 7p14.3 |
| FKBP15 | transport; protein folding; endocytosis; negative regulation of phosphatase activity | 9q32 |
| FKBP1A | positive regulation of protein ubiquitination; heart trabecula formation; positive regulation of protein binding; negative regulation of protein phosphatase type 2B 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; regulation of ryanodine-sensitive calcium-release channel activity; peptidyl-proline modification; SMAD protein complex assembly; signal transduction; 'de novo' protein folding; protein folding; heart morphogenesis; protein peptidyl-prolyl isomerization; protein maturation by protein folding | 20p13 |
| FKBP1A-SDCBP2 | - | 20p13 |
| FKBP1B | release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; peptidyl-proline modification; neuronal action potential propagation; protein maturation by protein folding; insulin secretion; regulation of calcium ion transport via store-operated calcium channel activity; negative regulation of protein phosphatase type 2B activity; protein refolding; T cell proliferation; response to redox state; regulation of ryanodine-sensitive calcium-release channel activity; negative regulation of heart rate; response to glucose stimulus; smooth muscle contraction; muscle contraction; 'de novo' protein folding; protein peptidyl-prolyl isomerization; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion | 2p23.3 |
| FKBP1C | protein folding | 6q12 |
| FKBP2 | protein peptidyl-prolyl isomerization; peptidyl-proline modification; protein folding | 11q13.1-q13.3 |
| FKBP3 | protein peptidyl-prolyl isomerization; protein folding; peptidyl-proline modification | 14q21.2 |
| FKBP4 | negative regulation of microtubule polymerization or depolymerization; protein complex localization; prostate gland development; peptidyl-proline modification; negative regulation of neuron projection development; embryo implantation; copper ion transport; steroid hormone receptor complex assembly; androgen receptor signaling pathway; male sex differentiation; protein folding; protein peptidyl-prolyl isomerization | 12p13.33 |
| FKBP4P1 | - | 4q26 |
| FKBP5 | peptidyl-proline modification; protein folding; protein peptidyl-prolyl isomerization | 6p21.31 |
| FKBP6 | peptidyl-proline modification; spermatogenesis; protein folding; protein peptidyl-prolyl isomerization; pachytene | 7q11.23 |
| FKBP7 | peptidyl-proline modification; protein folding; protein peptidyl-prolyl isomerization | 2q31.2 |
| FKBP8 | peptidyl-proline modification; apoptotic process; protein folding; protein peptidyl-prolyl isomerization; intracellular signal transduction; interspecies interaction between organisms | 19p12 |
| FKBP9 | protein folding; peptidyl-proline modification; protein peptidyl-prolyl isomerization | 7p11.1 |
| FKBP9P1 | - | 7p11.1 |
| FKBPL | peptidyl-proline modification; response to radiation; protein peptidyl-prolyl isomerization | 6p21.3 |
| FKRP | glycoprotein biosynthetic process; protein processing | 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 | FAD biosynthetic process; vitamin metabolic process; water-soluble vitamin metabolic process; riboflavin metabolic process; Mo-molybdopterin cofactor biosynthetic process; small molecule metabolic process | 1q21.3 |
| FLCN | regulation of protein phosphorylation | 17p11.2 |
| FLG | multicellular organismal development; keratinocyte differentiation | 1q21.3 |
| FLG-AS1 | - | 1q21.3 |
| FLG2 | - | 1q21.3 |
| FLI1 | regulation of transcription, DNA-dependent; hemostasis; organ morphogenesis | 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 | negative regulation of protein catabolic process; protein stabilization; positive regulation of transcription factor import into nucleus; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of sequence-specific DNA binding transcription factor activity; early endosome to late endosome transport; establishment of protein localization; spindle assembly involved in mitosis; receptor clustering; actin crosslink formation; cytoplasmic sequestering of protein; cell junction assembly; actin cytoskeleton reorganization; platelet activation; blood coagulation; inhibition of adenylate cyclase activity by dopamine receptor signaling pathway; platelet degranulation; protein localization at cell surface | Xq28 |
| FLNB | actin cytoskeleton organization; cell differentiation; cytokine-mediated signaling pathway; muscle organ development; multicellular organismal development; signal transduction; cytoskeletal anchoring at plasma membrane | 3p14.3 |
| FLNC | cell junction assembly; muscle fiber development | 7q32-q35 |
| FLOT1 | - | 6p21.3 |
| FLOT2 | cell adhesion; epidermis development | 17q11-q12 |
| FLRT1 | cell adhesion | 11q12-q13 |
| FLRT2 | cell adhesion | 14q24-q32 |
| FLRT3 | cell adhesion | 20p11 |
| FLT1 | positive regulation of angiogenesis; peptidyl-tyrosine phosphorylation; cell differentiation; positive regulation of cell migration; intracellular receptor mediated signaling pathway; positive regulation of vascular endothelial growth factor receptor signaling pathway; cellular response to vascular endothelial growth factor stimulus; vascular endothelial growth factor signaling pathway; positive regulation of MAP kinase activity; positive regulation of MAPK cascade; positive regulation of phosphatidylinositol 3-kinase activity; vascular endothelial growth factor receptor signaling pathway; protein autophosphorylation; blood vessel morphogenesis; embryonic morphogenesis; positive regulation of smooth muscle cell proliferation; positive regulation of phosphatidylinositol 3-kinase cascade; cell migration; activation of MAPKK activity; response to hypoxia; monocyte chemotaxis; chemotaxis; regulation of smooth muscle contraction; multicellular organismal development; female pregnancy; positive regulation of cell p | 13q12 |
| FLT3 | 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; positive regulation of MAPK cascade; positive regulation of phosphatidylinositol 3-kinase activity; negative regulation of B cell differentiation; protein autophosphorylation; cellular response to cytokine stimulus; cytokine-mediated signaling pathway; peptidyl-tyrosine phosphorylation; positive regulation of phosphatidylinositol 3-kinase cascade; negative regulation of cell proliferation; positive regulation of cell proliferation; transmembrane receptor protein tyrosine kinase signaling pathway; pro-T cell differentiation; pro-B cell differentiation; myeloid progenitor cell differentiation | 13q12 |
| FLT3LG | embryonic hemopoiesis; positive regulation of natural killer cell differentiation; lymphocyte differentiation; signal transduction; positive regulation of cell proliferation | 19q13.3 |
| FLT4 | positive regulation of protein kinase C signaling cascade; peptidyl-tyrosine phosphorylation; positive regulation of MAPK cascade; negative regulation of apoptotic process; vascular endothelial growth factor signaling pathway; cellular response to vascular endothelial growth factor stimulus; positive regulation of JNK cascade; protein autophosphorylation; positive regulation of ERK1 and ERK2 cascade; regulation of blood vessel remodeling; blood vessel morphogenesis; vascular endothelial growth factor receptor signaling pathway; vasculature development; positive regulation vascular endothelial growth factor production; positive regulation of cell proliferation; transmembrane receptor protein tyrosine kinase signaling pathway; sprouting angiogenesis; lymphangiogenesis; positive regulation of endothelial cell proliferation; positive regulation of protein phosphorylation; positive regulation of endothelial cell migration | 5q35.3 |
| FLVCR1 | heme export; in utero embryonic development; transmembrane transport; transport; cellular iron ion homeostasis; spleen development; head morphogenesis; erythrocyte differentiation; heme transport; regulation of organ growth; embryonic digit morphogenesis; multicellular organism growth; multicellular organismal development; cell death; limb morphogenesis | 1q32.3 |
| FLVCR1-AS1 | - | 1q32.3 |
| FLVCR2 | transmembrane transport; heme transport | 14q24.3 |
| FLYWCH1 | - | 16p13.3 |
| FLYWCH1P1 | - | 3q26.33 |
| FLYWCH2 | - | 16p13.3 |
| FMN1 | cellular component organization; actin cytoskeleton organization | 15q13.3 |
| FMN2 | polar body extrusion after meiotic divisions; intracellular signal transduction; actin cytoskeleton organization; meiotic chromosome movement towards spindle pole; cellular component organization; establishment of meiotic spindle localization; oogenesis; multicellular organismal development; meiotic metaphase I | 1q43 |
| FMNL1 | substrate-dependent cell migration; regulation of cell shape; cellular process; cellular component organization; cortical actin cytoskeleton organization | 17q21 |
| FMNL2 | cellular component organization; regulation of cell morphogenesis; cortical actin cytoskeleton organization; actin cytoskeleton organization; cytoskeleton organization | 2q23.3 |
| FMNL3 | cellular component organization; regulation of cell shape; cytoskeleton organization; cell migration; actin cytoskeleton organization | 12q13.12 |
| FMO1 | NADPH oxidation; small molecule metabolic process; response to lipopolysaccharide; response to osmotic stress; xenobiotic metabolic process; organic acid metabolic process; toxin metabolic process | 1q24.3 |
| FMO10P | - | 1q24.1 |
| FMO2 | oxygen metabolic process; NADPH oxidation; small molecule metabolic process; drug metabolic process; toxin metabolic process; xenobiotic metabolic process; NADP metabolic process; organic acid metabolic process | 1q24.3 |
| FMO3 | xenobiotic metabolic process; drug metabolic process; small molecule 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 | transport; central nervous system development; negative regulation of translational initiation; mRNA transport | Xq27.3 |
| FMR1NB | - | Xq28 |
| FN1 | angiogenesis; leukocyte migration; substrate adhesion-dependent cell spreading; platelet activation; peptide cross-linking; cell migration; regulation of cell shape; blood coagulation; cell adhesion; acute-phase response; platelet degranulation; response to wounding | 2q34 |
| FN3K | fructoselysine metabolic process | 17q25.3 |
| FN3KRP | - | 17q25.3 |
| FNBP1 | nervous system development; endocytosis | 9q34 |
| FNBP1L | endocytosis | 1p22.1 |
| FNBP1P1 | - | - |
| FNBP4 | - | 11p11.2 |
| FNDC1 | regulation of protein transport; cellular response to hypoxia; positive regulation of protein phosphorylation; positive regulation of cardiac muscle cell apoptosis | 6q25 |
| FNDC3A | spermatid development; fertilization; 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; regulation of protein phosphorylation; protein phosphorylation; DNA damage response, signal transduction resulting in induction of apoptosis | 4q32.1 |
| FNTA | positive regulation of tubulin deacetylation; positive regulation of deacetylase activity; 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 | receptor-mediated endocytosis; cell death; folic acid transport; folic acid metabolic process | 11q13.3-q14.1 |
| FOLR2 | folic acid transport | 11q13.3-q13.5 |
| FOLR3 | folic acid transport | 11q13 |
| FOPNL | cilium assembly; cell projection organization; microtubule anchoring | 16p13.11 |
| FOS | TRIF-dependent toll-like receptor signaling pathway; response to lipopolysaccharide; 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 drug; innate immune response; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; regulation of sequence-specific DNA binding transcription factor activity; stress-activated MAPK cascade; response to corticosterone stimulus; response to cAMP; cellular response to calcium ion; SMAD protein signal transduction; sleep; conditioned taste aversion; toll-like receptor signaling pathway; cellular response to extracellular stimulus; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; DNA me | 14q24.3 |
| FOSB | negative regulation of transcription from RNA polymerase II promoter; multicellular organismal development; behavior; cellular response to calcium ion | 19q13.32 |
| FOSL1 | regulation of transcription from RNA polymerase II promoter; response to cytokine stimulus; transcription from RNA polymerase II promoter; chemotaxis; cellular defense response; female pregnancy; learning; positive regulation of cell proliferation; negative regulation of cell proliferation; response to mechanical stimulus; response to virus; response to gravity; response to organic cyclic compound; cellular response to extracellular stimulus; response to progesterone stimulus; response to drug; response to hydrogen peroxide; positive regulation of cell cycle; positive regulation of apoptotic process; positive regulation of transcription from RNA polymerase II promoter during mitosis; response to corticosterone stimulus; response to cAMP | 11q13 |
| FOSL1P1 | - | - |
| FOSL2 | regulation of transcription from RNA polymerase II promoter; positive regulation of fibroblast proliferation; cell death | 2p23.3 |
| FOXA1 | hormone metabolic process; secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development; lung epithelial cell differentiation; chromatin remodeling; epithelial tube branching involved in lung morphogenesis; positive regulation of sequence-specific DNA binding transcription factor activity; neuron fate specification; prostate gland stromal morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of mitotic cell cycle; positive regulation of neuron differentiation; glucose homeostasis; tube morphogenesis; positive regulation of intracellular estrogen receptor signaling pathway; response to estradiol stimulus; lung development; regulation of hormone levels; negative regulation of epithelial to mesenchymal transition; embryo development; negative regulation of survival gene product expression; pattern specification process; regulation of transcription, DNA-dependent; prostate gland epithelium morphogenesis; epithelial | 14q12-q13 |
| FOXA2 | negative regulation of glucokinase activity; regulation of transcription from RNA polymerase II promoter involved in detection of glucose; positive regulation of embryonic development; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of neuron differentiation; positive regulation of neuron differentiation; positive regulation of transcription, DNA-dependent; 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 reg | 20p11 |
| FOXA3 | positive regulation of hepatocyte differentiation; cellular glucose homeostasis; regulation of transcription, DNA-dependent; spermatogenesis; brain development; negative regulation of cell proliferation; cellular response to starvation; embryo development; chromatin modification; neural plate anterior/posterior regionalization; endocrine pancreas development; response to nutrient levels; positive regulation of transcription from RNA polymerase II promoter; neuron fate specification; regulation of sequence-specific DNA binding transcription factor activity; epithelial tube branching involved in lung morphogenesis; lung epithelial cell differentiation; cell differentiation | 19q13.2-q13.4 |
| FOXB1 | axon target recognition; hypothalamus cell migration; telencephalon cell migration; epithelial cell differentiation involved in mammary gland alveolus development; thalamus development; mammillary body development; spinal cord development; tissue development; embryo development; visual learning; lactation; brain development; midbrain development; somitogenesis; urogenital system development; floor plate development; mammillothalamic axonal tract development; mammary gland lobule development; inferior colliculus development; cell migration in diencephalon; pattern specification process; negative regulation of neuron apoptosis; regulation of sequence-specific DNA binding transcription factor activity | 15q22 |
| FOXB2 | brain development; pattern specification process; embryo development; tissue development; regulation of sequence-specific DNA binding transcription factor activity | 9q21.2 |
| FOXC1 | regulation of organ growth; vascular endothelial growth factor receptor signaling pathway; paraxial mesoderm formation; paraxial mesodermal cell fate commitment; mesenchymal cell differentiation; artery morphogenesis; regulation of blood vessel size; regulation of sequence-specific DNA binding transcription factor activity; ventricular cardiac muscle tissue morphogenesis; cardiac muscle cell proliferation; anti-apoptosis; skeletal system development; negative regulation of mitotic cell cycle; ossification; ovarian follicle development; blood vessel development; vasculogenesis; eye development; metanephros development; ureteric bud development; in utero embryonic development; somitogenesis; lymphangiogenesis; blood vessel remodeling; heart morphogenesis; regulation of transcription, DNA-dependent; Notch signaling pathway; heart development; positive regulation of transcription, DNA-dependent; camera-type eye development; odontogenesis of dentin-containing tooth; embryonic heart tube development; lacrimal gland | 6p25 |
| FOXC2 | heart development; cell proliferation; insulin receptor signaling pathway; response to hormone stimulus; positive regulation of endothelial cell migration; neural crest cell development; neural crest cell fate commitment; collagen fibril organization; positive regulation of cell adhesion mediated by integrin; embryonic heart tube development; positive regulation of vascular wound healing; camera-type eye development; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; vascular endothelial growth factor receptor signaling pathway; regulation of organ growth; ureteric bud development; negative regulation of transcription from RNA polymerase II promoter; skeletal system development; glomerular mesangial cell development; ossification; blood vessel development; patterning of blood vessels; vasculogenesis; metanephros development; mesoderm development; somitogenesis; lymphangiogenesis; blood vessel remodeling; heart morphogenesis; anti-apoptosi | 16q24.1 |
| FOXD1 | positive regulation of kidney development; metanephric capsule development; metanephric capsule specification; neural crest cell migration; regulation of transcription, DNA-dependent; pattern specification process; axon extension involved in axon guidance; 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; peripheral nervous system development; sympathetic nervous system development; enteric 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 | 5q12-q13 |
| FOXD2 | regulation of sequence-specific DNA binding transcription factor activity; dichotomous subdivision of terminal units involved in ureteric bud branching; positive regulation of kidney development; iridophore differentiation; neural crest cell migration; regulation of transcription, DNA-dependent; 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; enteric nervous system development; sympathetic nervous system development; axon extension involved in axon guidance; lateral line nerve glial cell development; cartilage development | 1p34-p32 |
| FOXD2-AS1 | - | 1p33 |
| FOXD3 | negative regulation of transcription from RNA polymerase II promoter; branching involved in ureteric bud morphogenesis; in utero embryonic development; neural crest cell migration; kidney development; regulation of sequence-specific DNA binding transcription factor activity; cartilage development; iridophore differentiation; trophectodermal cell differentiation; embryonic placenta development; axon extension involved in axon guidance; lateral line nerve glial cell development; positive regulation of transcription from RNA polymerase II promoter; melanocyte differentiation; enteric nervous system development; sympathetic nervous system development; peripheral nervous system development; pattern specification process | 1p31.3 |
| FOXD4 | neural crest cell migration; 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; enteric nervous system development; positive regulation of transcription from RNA polymerase II promoter; 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 | 9p24.3 |
| FOXD4L1 | lateral line nerve glial cell development; axon extension involved in axon guidance; neural crest cell migration; positive regulation of transcription from RNA polymerase II promoter; pattern specification process; peripheral nervous system development; embryo development; melanocyte differentiation; positive regulation of BMP signaling pathway; sympathetic nervous system development; enteric nervous system development; iridophore differentiation; regulation of sequence-specific DNA binding transcription factor activity; cartilage development; dichotomous subdivision of terminal units involved in ureteric bud branching; positive regulation of kidney development | 2q13 |
| FOXD4L3 | positive regulation of kidney development; neural crest cell migration; 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; sympathetic nervous system development; enteric nervous system 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 | 9q21.11 |
| FOXE1 | negative regulation of transcription, DNA-dependent; anatomical structure morphogenesis; 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; pharynx development; hair follicle morphogenesis; thyroid gland development; cell migration; regulation of sequence-specific DNA binding transcription factor activity; peripheral nervous system development; pattern specification process; thyroid hormone generation; lens morphogenesis in camera-type eye; negative regulation of transcription from RNA polymerase II promoter; lateral line nerve glial cell development; hard palate development; soft palate development | 9q22 |
| FOXF1 | in utero embryonic development; vasculogenesis; blood vessel development; negative regulation of transcription from RNA polymerase II promoter; somitogenesis; positive regulation of mesenchymal cell proliferation; endocardial cushion development; cardiac left ventricle morphogenesis; smoothened signaling pathway; determination of left/right symmetry; pattern specification process; midgut development; mesoderm development; heart development; embryo development; tissue development; positive regulation of cell-substrate adhesion; detection of wounding; cell-cell adhesion; negative regulation of mast cell degranulation; extracellular matrix organization; lung development; positive regulation of cell migration; pancreas development; lung vasculature development; mesenchyme migration; ureter development; renal system development; cellular response to organic cyclic compound; cellular response to cytokine stimulus; epithelial cell differentiation involved in mammary gland alveolus development; venous blood vessel de | 16q24 |
| FOXF2 | extracellular matrix organization; palate development; regulation of sequence-specific DNA binding transcription factor activity; genitalia development; embryonic digestive tract development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; establishment of planar polarity of embryonic epithelium; tissue development; embryo development; pattern specification process; epithelial to mesenchymal transition | 6p25.3 |
| FOXG1 | tissue development; axon midline choice point recognition; dorsal/ventral pattern formation; nonmotile primary cilium assembly; central nervous system neuron development; hindbrain development; regulation of sequence-specific DNA binding transcription factor activity; embryo development ending in birth or egg hatching; brain development; regulation of mitotic cell cycle; multicellular organismal development; regulation of transcription, DNA-dependent; positive regulation of neuroblast proliferation; inner ear morphogenesis; nose development; negative regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of cell cycle | 14q13 |
| FOXH1 | transforming growth factor beta receptor signaling pathway; determination of left/right symmetry; specification of organ position; floor plate formation; activin receptor signaling pathway; regulation of sequence-specific DNA binding transcription factor activity; axial mesoderm development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; heart jogging; heart looping; blood vessel development; embryonic heart tube anterior/posterior pattern specification; cell migration involved in gastrulation; regulation of transcription, DNA-dependent | 8q24.3 |
| FOXI1 | epidermal cell fate specification; embryo development; inner ear morphogenesis; pattern specification process; 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 | regulation of sequence-specific DNA binding transcription factor activity; otic placode formation; epidermal cell fate specification; pattern specification process | 2p11.2 |
| FOXJ1 | negative regulation of T cell proliferation; activation of Rho GTPase activity; establishment of apical/basal cell polarity; negative regulation of T cell differentiation in thymus; negative regulation of interleukin-6 biosynthetic process; cilium assembly; positive regulation of transcription from RNA polymerase II promoter; negative regulation of B cell activation; leukocyte migration; left/right pattern formation; humoral immune response; negative regulation of NF-kappaB transcription factor activity; 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 transcription, DNA-dependent; spermatogenesis; pattern specification process; negative regulation of transcription from RNA polymerase II promoter; actin cytoskeleton organization; lung development; epithelial cell differentiation; regulation of epithelial cel | 17q25.1 |
| FOXJ2 | tissue development; embryo development; regulation of sequence-specific DNA binding transcription factor activity; organ development; positive regulation of transcription, DNA-dependent; pattern specification process | 12p13.31 |
| FOXJ3 | organ development; regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; tissue development; pattern specification process; embryo development | 1p34.2 |
| FOXK1 | negative regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; pattern specification process; muscle organ development; negative regulation of cell growth; embryo development; tissue development; positive regulation of transcription, DNA-dependent; cell differentiation; regulation of sequence-specific DNA binding transcription factor activity | 7p22.1 |
| FOXK2 | embryo development; regulation of sequence-specific DNA binding transcription factor activity; tissue development; pattern specification process; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 17q25 |
| FOXL1 | heart development; visceral mesoderm-endoderm interaction involved in midgut development; brain development; pattern specification process; multicellular organismal development; regulation of transcription, DNA-dependent; embryo development; organ morphogenesis; regulation of Wnt receptor signaling pathway; regulation of sequence-specific DNA binding transcription factor activity; proteoglycan biosynthetic process; forelimb morphogenesis; camera-type eye development; cartilage development | 16q24 |
| FOXL2 | ovarian follicle development; convergent extension; granulosa cell differentiation; regulation of sequence-specific DNA binding transcription factor activity; embryonic eye morphogenesis; positive regulation of transcription from RNA polymerase II promoter; 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; menstruation; cell differentiation; female somatic sex determination; pattern specification process; induction of apoptosis; regulation of transcription, DNA-dependent; DNA fragmentation involved in apoptotic nuclear change; extraocular skeletal muscle development | 3q23 |
| FOXL2NB | - | 3q22.3 |
| FOXM1 | regulation of cell growth; regulation of reactive oxygen species metabolic process; G2/M transition of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; vasculogenesis; liver development; DNA repair; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; cell cycle; pattern specification process; positive regulation of cell proliferation; tissue development; positive regulation of double-strand break repair; negative regulation of cell aging; regulation of cell cycle arrest; regulation of sequence-specific DNA binding transcription factor activity; regulation of Ras protein signal transduction; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; regulation of cell proliferation; negative regulation of | 12p13 |
| FOXN1 | transcription from RNA polymerase II promoter; organ morphogenesis; keratinocyte differentiation; thymus development; epithelial cell proliferation; regulation of sequence-specific DNA binding transcription factor activity; regulation of transcription from RNA polymerase II promoter; defense response; pattern specification process; epidermis development; embryo development | 17q11-q12 |
| FOXN2 | regulation of transcription, DNA-dependent; pattern specification process; embryo development; tissue development; regulation of sequence-specific DNA binding transcription factor activity | 2p22-p16 |
| FOXN3 | negative regulation of transcription, DNA-dependent; regulation of sequence-specific DNA binding transcription factor activity; tissue development; embryo development; pattern specification process; cell cycle; G2 phase of mitotic cell cycle; DNA damage checkpoint | 14q31.3 |
| FOXN3-AS1 | - | 14q32.11 |
| FOXN3P1 | - | Xq22.1 |
| FOXN4 | regulation of sequence-specific DNA binding transcription factor activity; neuron fate commitment; organ development; regulation of heart contraction; embryo development; tissue development; cell differentiation; pattern specification process; axon extension | 12q24.11 |
| FOXO1 | regulation of cell proliferation; positive regulation of transcription, DNA-dependent; negative regulation of stress-activated MAPK cascade; endocrine pancreas development; tissue development; embryo development; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; pattern specification process; epidermal growth factor receptor signaling pathway; response to DNA damage stimulus; anti-apoptosis; blood vessel development; positive regulation of gluconeogenesis; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; organ development; regulation of sequence-specific DNA binding transcription factor activity | 13q14.1 |
| FOXO1B | - | 5q35.3 |
| FOXO3 | embryo development; 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; DNA damage response, signal transduction by p53 class mediator; ovulation from ovarian follicle; negative regulation of transcription from RNA polymerase II promoter; fibroblast growth factor receptor signaling pathway; tissue development; insulin receptor signaling pathway; pattern specification process; epidermal growth factor receptor signaling pathway; response to DNA damage stimulus; response to stress; induction of apoptosis; apoptotic process; regulation of translation; oocyte maturation; antral ovarian follicle growth; initiation of primordial ovarian follicle growth | 6q21 |
| FOXO3B | - | 17p11.2 |
| FOXO4 | G1 phase of mitotic cell cycle; 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; epidermal growth factor receptor signaling pathway; pattern specification process; muscle organ development; negative regulation of cell proliferation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; embryo development; tissue development; negative regulation of angiogenesis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of smooth muscle cell differentiation; cell differentiation; regulation of sequence-specific DNA binding transcription factor activity; phosphatidylinositol-mediated signaling; organ development; nerve growth factor receptor signaling pathway | Xq13.1 |
| FOXO6 | tissue development; embryo development; insulin receptor signaling pathway; negative regulation of cell proliferation; pattern specification process; response to DNA damage stimulus; negative regulation of angiogenesis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of smooth muscle cell differentiation; organ development; regulation of sequence-specific DNA binding transcription factor activity | 1p34.2 |
| FOXP1 | sarcomere organization; positive regulation of cardiac muscle cell differentiation; in utero embryonic development; regulation of sequence-specific DNA binding transcription factor activity; positive regulation of mesenchymal cell proliferation; pre-B cell differentiation; smooth muscle tissue development; positive regulation of immunoglobulin production; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; pattern specification process; ventral spinal cord development; heart development; skeletal muscle tissue development; embryo development; motor axon guidance; lung development; cardiac muscle cell differentiation; regulation of cardiac muscle cell proliferation; positive regulation of epithelial cell proliferation involved in lung morphogenesis; immunoglobulin V(D)J recombination | 3p14.1 |
| FOXP1-IT1 | - | - |
| FOXP2 | positive regulation of mesenchymal cell proliferation; negative regulation of transcription, DNA-dependent; pattern specification process; cerebellum development; skeletal muscle tissue development; post-embryonic development; embryo development; camera-type eye development; vocal learning; lung alveolus development; smooth muscle tissue development; regulation of sequence-specific DNA binding transcription factor activity; righting reflex; positive regulation of epithelial cell proliferation involved in lung morphogenesis; growth; putamen development; caudate nucleus development; cerebral cortex development | 7q31 |
| FOXP3 | negative regulation of interleukin-2 production; positive regulation of mesenchymal cell proliferation; chromatin remodeling; positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation; positive regulation of transforming growth factor beta1 production; positive regulation of immature T cell proliferation in thymus; positive regulation of histone acetylation; positive regulation of peripheral T cell tolerance induction; negative regulation of T cell cytokine production; negative regulation of chronic inflammatory response; growth; myeloid cell homeostasis; T cell mediated immunity; negative regulation of histone acetylation; tolerance induction to self antigen; positive regulation of T cell anergy; regulation of immunoglobulin production; putamen development; negative regulation of interleukin-4 production; negative regulation of interleukin-5 production; negative regulation of interleukin-6 production; negative regulation of interleukin-10 production; negative regulation | Xp11.23 |
| FOXP4 | pattern specification process; regulation of sequence-specific DNA binding transcription factor activity; heart development; tissue development; embryonic foregut morphogenesis | 6p21.1 |
| FOXQ1 | pattern specification process; embryo development; positive regulation of transcription from RNA polymerase II promoter; hair follicle morphogenesis; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; DNA fragmentation involved in apoptotic nuclear change; regulation of sequence-specific DNA binding transcription factor activity | 6p25 |
| FOXR1 | organ development; pattern specification process; embryo development; tissue development; regulation of sequence-specific DNA binding transcription factor activity | 11q23.3 |
| FOXR2 | tissue development; organ development; embryo development; pattern specification process; regulation of sequence-specific DNA binding transcription factor activity | Xp11.21 |
| FOXRED1 | - | 11q24.2 |
| FOXRED2 | ER-associated protein catabolic process | 22q12.3 |
| FOXS1 | embryonic heart tube development; ventricular cardiac muscle tissue morphogenesis; positive regulation of multicellular organism growth; camera-type eye development; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; regulation of organ growth; vascular endothelial growth factor receptor signaling pathway; paraxial mesodermal cell fate commitment; embryonic viscerocranium morphogenesis; artery morphogenesis; regulation of blood vessel size; neuromuscular process controlling balance; collagen fibril organization; neural crest cell fate commitment; insulin receptor signaling pathway; multicellular organismal development; Notch signaling pathway; anti-apoptosis; regulation of transcription, DNA-dependent; blood vessel remodeling; lymphangiogenesis; somitogenesis; ureteric bud development; metanephros development; vasculogenesis; patterning of blood vessels; b | 20q11.21 |
| FP2234 | - | - |
| FP6628 | - | 8q22.1 |
| FPGS | nucleobase-containing compound metabolic process; one-carbon metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; biosynthetic process; small molecule metabolic process; folic acid metabolic process; tetrahydrofolylpolyglutamate biosynthetic process | 9q34.1 |
| FPGT | fucose metabolic process | 1p31.1 |
| FPR1 | G-protein signaling, coupled to cAMP nucleotide second messenger; activation of MAPK activity; cellular component movement; chemotaxis; signal transduction; G-protein coupled receptor signaling pathway; nitric oxide mediated signal transduction | 19q13.4 |
| FPR2 | cellular component movement; chemotaxis; inflammatory response; cell adhesion; G-protein coupled receptor signaling pathway | 19q13.3-q13.4 |
| FRA10AC1 | - | 10q23.33 |
| FRAS1 | cell communication | 4q21.21 |
| FRAT1 | embryonic axis specification; Wnt receptor signaling pathway | 10q24.1 |
| FRAT2 | multicellular organismal development; Wnt receptor signaling pathway; cell proliferation | 10q24.1 |
| FRDAP | - | 14q24.3 |
| FREM1 | multicellular organismal development; cell-matrix adhesion; cell adhesion; cell communication | 9p22.3 |
| FREM2 | cell communication; morphogenesis of an epithelium; cell adhesion; homophilic cell adhesion; multicellular organismal development | 13q13.3 |
| FREM3 | cell communication; cell adhesion | 4q31.21 |
| FRG1BP | - | 20q11.21 |
| FRG1HP | - | 9q12 |
| FRG1JP | - | 9q13 |
| FRG2DP | - | 16p11.1 |
| FRG2EP | - | - |
| FRK | protein phosphorylation; negative regulation of cell proliferation; cell differentiation | 6q21-q22.3 |
| FRMD1 | - | 6q27 |
| FRMD3 | - | 9q21.32 |
| FRMD4A | - | 10p13 |
| FRMD4B | - | 3p14.1 |
| FRMD5 | - | 15q15.3 |
| FRMD6 | - | 14q22.1 |
| FRMD6-AS1 | - | 14q22.1 |
| FRMD7 | regulation of neuron projection development; nervous system 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 | neuroblast proliferation; activation of phospholipase C activity; G-protein coupled receptor signaling pathway; activation of MAPKK activity; activation of MAPK activity; gastrulation with mouth forming second; organ induction; ventricular septum development; transmembrane receptor protein tyrosine phosphatase signaling pathway; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis; insulin receptor signaling pathway; regulation of epithelial cell proliferation; nerve growth factor receptor signaling pathway; optic placode formation involved in camera-type eye formation; forebrain development; anterior/posterior axis specification, embryo; fibroblast growth factor receptor signaling pathway | 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 | epithelium development; mammary gland involution; convergent extension involved in organogenesis; positive regulation of fat cell differentiation; positive regulation of apoptotic process; somite development; negative regulation of hepatocyte differentiation; negative regulation of canonical Wnt receptor signaling pathway; cochlea morphogenesis; negative regulation of cartilage development; negative regulation of Wnt receptor signaling pathway; vasculature development; negative regulation of cell growth; multicellular organismal development; axonogenesis; brain development; negative regulation of cell proliferation; skeletal system development; gonad development; negative regulation of cell development; neural crest cell differentiation; cell differentiation | 2qter |
| FSCB | peptidyl-serine phosphorylation | 14q21.2 |
| FSCN1 | cell proliferation; cell migration; actin cytoskeleton organization; cell motility; actin filament bundle assembly | 7p22 |
| FSCN2 | anatomical structure morphogenesis; actin cytoskeleton organization; visual perception; actin filament bundle assembly | 17q25 |
| FSCN3 | - | 7q31.3 |
| FSD1 | cell cycle; cell division; mitosis | 19p13.3 |
| FSD1L | - | 9q31 |
| FSD2 | - | 15q25.2 |
| FSHR | activation of adenylate cyclase activity by G-protein signaling pathway; transcytosis; follicle-stimulating hormone signaling pathway; spermatogenesis, exchange of chromosomal proteins; regulation of chromosome organization; female gonad development; gonad development; female gamete generation; spermatogenesis; G-protein coupled receptor signaling pathway; male gonad development | 2p21-p16 |
| FSIP1 | - | 15q14 |
| FSIP2 | - | 2q32.1 |
| FST | hemopoietic progenitor cell differentiation; positive regulation of hair follicle development; negative regulation of follicle-stimulating hormone secretion; negative regulation of activin receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; signal transduction | 5q11.2 |
| FSTL1 | BMP signaling pathway | 3q13.33 |
| FSTL3 | kidney development; negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; cellular response to metal ion; positive regulation of transcription from RNA polymerase II promoter; negative regulation of osteoclast differentiation; negative regulation of BMP signaling pathway; ossification; hemopoietic progenitor cell differentiation; negative regulation of activin receptor signaling pathway; regulation of transcription from RNA polymerase II promoter; adrenal gland development; lung development; positive regulation of cell-cell adhesion; male gonad development; spermatogenesis | 19p13 |
| FSTL4 | - | 5q31.1 |
| FSTL5 | - | 4q32.3 |
| FTCD | folic acid-containing compound metabolic process; histidine catabolic process; cytoskeleton organization; cellular nitrogen compound metabolic process; small molecule metabolic process | 21q22.3 |
| FTCDNL1 | - | 2q33.1 |
| FTH1 | immune response; negative regulation of necrotic cell death; transmembrane transport; negative regulation of fibroblast proliferation; cellular membrane organization; negative regulation of cell proliferation; 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 | iron ion transport; cellular iron ion homeostasis | Xp21 |
| FTL | iron ion transport; transmembrane transport; iron ion homeostasis; cellular membrane organization; post-Golgi vesicle-mediated transport; cellular iron ion homeostasis; cell death | 19q13.33 |
| FTLP10 | - | 4q13.2 |
| FTLP14 | - | - |
| FTLP2 | - | Xp21.2 |
| FTLP3 | - | 20p13 |
| FTLP4 | - | 9p21.1 |
| FTLP7 | - | 11q23.3 |
| FTO | oxidative single-stranded DNA demethylation; DNA dealkylation involved in DNA repair; oxidative single-stranded RNA demethylation; temperature homeostasis; regulation of respiratory system process; adipose tissue development; regulation of white fat cell proliferation; regulation of multicellular organism growth; RNA repair; oxidative demethylation; DNA demethylation; regulation of lipid storage | 16q12.2 |
| FTO-IT1 | - | 16q12.2 |
| FTOP1 | - | - |
| FTSJ1 | RNA methylation; rRNA processing | Xp11.23 |
| FTSJ2 | rRNA processing; cell proliferation; rRNA methylation | 7p22 |
| FTSJ3 | RNA methylation; rRNA processing | 17q23.3 |
| FTX | - | Xq13.2 |
| FUBP1 | regulation of gene expression; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 1p31.1 |
| FUBP3 | positive regulation of transcription, DNA-dependent; regulation of gene expression; transcription, DNA-dependent | 9q34.11 |
| FUCA1 | carbohydrate metabolic process; fucose metabolic process; glycosaminoglycan catabolic 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 | negative regulation of nerve growth factor production; regulation of protein catabolic process; peptide biosynthetic process; post-translational protein modification; cellular protein metabolic process; nerve growth factor receptor signaling pathway; positive regulation of membrane protein ectodomain proteolysis; regulation of endopeptidase activity; positive regulation of transforming growth factor beta receptor signaling pathway; nerve growth factor processing; negative regulation of low-density lipoprotein particle receptor catabolic process; peptidyl-glutamic acid carboxylation; peptide hormone processing; nerve growth factor production; negative regulation of transforming growth factor beta1 production; secretion by cell; positive regulation of cell migration; viral assembly, maturation, egress, and release; signal peptide processing; proteolysis; transforming growth factor beta receptor signaling pathway; Notch signaling pathway; aging; cell proliferation; protein processing | 15q26.1 |
| FUS | gene expression; RNA splicing; cell death; nuclear mRNA splicing, via spliceosome | 16p11.2 |
| FUT1 | carbohydrate metabolic process; protein glycosylation; fucosylation; L-fucose catabolic process | 19q13.3 |
| FUT10 | protein glycosylation; protein targeting; L-fucose catabolic process; wound healing; hemopoiesis; nervous system development; embryo development; fertilization; protein folding | 8p12 |
| FUT11 | protein glycosylation | 10q22.2 |
| FUT2 | carbohydrate metabolic process; protein glycosylation; fucosylation; L-fucose catabolic process | 19q13.3 |
| FUT3 | protein glycosylation; macromolecule glycosylation; fucosylation; oligosaccharide biosynthetic process; cell-cell recognition | 19p13.3 |
| FUT4 | carbohydrate metabolic process; protein glycosylation; fucosylation; L-fucose catabolic process | 11q21 |
| FUT6 | protein glycosylation; fucosylation; L-fucose catabolic process | 19p13.3 |
| FUT7 | CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation; leukocyte migration involved in immune response; protein glycosylation; fucosylation; L-fucose catabolic process | 9q34.3 |
| FUT8 | L-fucose catabolic process; in utero embryonic development; protein N-linked glycosylation; N-glycan processing; transforming growth factor beta receptor signaling pathway; integrin-mediated signaling pathway; respiratory gaseous exchange; oligosaccharide biosynthetic process; cell migration; protein N-linked glycosylation via asparagine; protein glycosylation in Golgi; N-glycan fucosylation; receptor metabolic process; post-translational protein modification; cellular protein metabolic process | 14q24.3 |
| FUT8-AS1 | - | 14q23.3 |
| FUT9 | nervous system development; fucosylation; L-fucose catabolic process; carbohydrate metabolic process; protein glycosylation | 6q16 |
| FUZ | establishment of planar polarity; neural tube closure; regulation of smoothened signaling pathway; embryonic skeletal system morphogenesis; multicellular organismal development; hair follicle development; cell projection organization; protein transport; cilium assembly; embryonic body morphogenesis | 19q13.33 |
| FXN | positive regulation of cell growth; embryo development ending in birth or egg hatching; response to iron ion; regulation of ferrochelatase activity; response to organic cyclic compound; protein autoprocessing; iron incorporation into metallo-sulfur cluster; proprioception; negative regulation of organ growth; aerobic respiration; positive regulation of cell proliferation; adult walking behavior; mitochondrion organization; cellular iron ion homeostasis; ion transport; heme biosynthetic process; oxidative phosphorylation; response to drug; 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 multicellular organism growth; positive regulation of axon extension; negative regulation of apoptotic process; positive regulation of metalloenzyme activity | 9q21.11 |
| FXR1 | muscle organ development; negative regulation of translation; cell differentiation; apoptotic process; multicellular organismal development | 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 | T cell receptor signaling pathway; intracellular protein kinase cascade; signal transduction; immune response; NLS-bearing substrate import into nucleus; protein phosphorylation | 5p13.1 |
| FYCO1 | plus-end-directed vesicle transport along microtubule; transport | 3p21.31 |
| FYN | intracellular protein kinase cascade; calcium ion transport; viral reproduction; leukocyte migration; T cell receptor signaling pathway; regulation of defense response to virus by virus; interspecies interaction between organisms; T cell costimulation; platelet activation; protein phosphorylation; multicellular organismal development; axon guidance; blood coagulation; learning; feeding behavior | 6q21 |
| FYTTD1 | transport; mRNA export from nucleus | 3q29 |
| FZD1 | planar cell polarity pathway involved in neural tube closure; negative regulation of canonical Wnt receptor signaling pathway; cellular response to peptide hormone stimulus; lung alveolus development; cellular response to growth factor stimulus; cellular response to vitamin D; cell-cell signaling; negative regulation of catenin import into nucleus; epithelial cell differentiation; negative regulation of BMP signaling pathway; neuron differentiation; embryo development; gonad development; brain development; axonogenesis; hard palate development; Wnt receptor signaling pathway, calcium modulating pathway; G-protein signaling, coupled to cGMP nucleotide second messenger; outflow tract morphogenesis; muscular septum morphogenesis; membranous septum morphogenesis; vasculature development; positive regulation of protein phosphorylation; response to drug; canonical Wnt receptor signaling pathway; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription, | 7q21 |
| FZD10 | neuron differentiation; 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; embryo development; gonad development; vasculature development; brain development | 12q24.33 |
| FZD10-AS1 | - | 12q24.33 |
| FZD2 | positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; cell activation; vasculature development; brain development; muscular septum morphogenesis; outflow tract morphogenesis; G-protein signaling, coupled to cGMP nucleotide second messenger; elevation of cytosolic calcium ion concentration; Wnt receptor signaling pathway, calcium modulating pathway; cell-cell signaling; multicellular organismal development; axonogenesis; membranous septum morphogenesis; sensory perception of smell; gonad development; embryo development; Wnt receptor signaling pathway; neuron differentiation; positive regulation of cGMP metabolic process; epithelial cell differentiation; hard palate development; canonical Wnt receptor signaling pathway; inner ear receptor cell development; cellular response to vitamin D; cellular response to growth factor stimulus; cellular response to peptide hormone stimulus; cochlea morphogenesis; planar cell polarity pathway | 17q21.1 |
| FZD3 | inner ear morphogenesis; cell proliferation in midbrain; neuron differentiation; facial nucleus development; gonad development; canonical Wnt receptor signaling pathway; commissural neuron axon guidance; establishment of planar polarity; neural tube closure; vasculature development; multicellular organismal development; G-protein signaling, coupled to cGMP nucleotide second messenger | 8p21 |
| FZD4 | Wnt receptor signaling pathway; cellular response to retinoic acid; neuron differentiation; regulation of vascular endothelial growth factor receptor signaling pathway; locomotion involved in locomotory behavior; substrate adhesion-dependent cell spreading; extracellular matrix-cell signaling; progesterone secretion; positive regulation of transcription, DNA-dependent; 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; retinal blood vessel morphogenesis; negative regulation of cell-substrate adhesion; embryo development; sensory perception of sound; brain development; Wnt receptor signaling pathway, calcium modulating pathway; vasculogenesis; blood vessel development | 11q14.2 |
| FZD5 | anterior/posterior axis specification, embryo; post-embryonic camera-type eye development; embryonic camera-type eye development; neuron differentiation; embryonic axis specification; positive regulation of interferon-gamma production; T cell differentiation in thymus; Wnt receptor signaling pathway involved in dorsal/ventral axis specification; positive regulation of transcription from RNA polymerase II promoter; Spemann organizer formation; canonical Wnt receptor signaling pathway; labyrinthine layer blood vessel development; cellular response to molecule of bacterial origin; multicellular organismal development; apoptotic process; angiogenesis; gonad development; brain development; axonogenesis | 2q33.3 |
| FZD6 | angiogenesis; establishment of planar polarity; neural tube closure; G-protein signaling, coupled to cGMP nucleotide second messenger; multicellular organismal development; axonogenesis; gonad development; cell proliferation in midbrain; non-canonical Wnt receptor signaling pathway; inner ear morphogenesis; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of canonical Wnt receptor signaling pathway | 8q22.3-q23.1 |
| FZD7 | satellite cell maintenance involved in skeletal muscle regeneration; T cell differentiation in thymus; somatic stem cell division; positive regulation of epithelial cell proliferation involved in wound healing; canonical Wnt receptor signaling pathway; mesenchymal to epithelial transition; cellular response to retinoic acid; 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; neuron differentiation; stem cell maintenance; negative regulation of cell-substrate adhesion; gonad development; brain development; axonogenesis; multicellular organismal development; Wnt receptor signaling pathway, calcium modulating pathway; G-protein signaling, coupled to cGMP nucleotide second messenger; regulation of transcription, DNA-dependent; vasculature developm | 2q33 |
| FZD8 | T cell differentiation in thymus; positive regulation of protein phosphorylation; neuron differentiation; embryo development; gonad development; brain development; axonogenesis; positive regulation of transcription from RNA polymerase II promoter; canonical Wnt receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; vasculature development | 10p11.21 |
| FZD9 | brain development; canonical Wnt receptor signaling pathway; B cell differentiation; embryo development; gonad development; learning or memory; vasculature development; nervous system development; neuroblast proliferation | 7q11.23 |
| FZR1 | S phase of mitotic cell cycle; mitotic cell cycle; 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; activation of anaphase-promoting complex activity; lens fiber cell differentiation; protein K11-linked ubiquitination; positive regulation of cell proliferation; phosphorylation; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; negative regulation of cell aging; mitosis; DNA repair; G2/M transition DNA damage checkpoint; regulation of meiosis; positive regulation of protein catabolic process | 19p13.3 |
| G0S2 | cell cycle; small molecule metabolic process; cellular lipid metabolic process | 1q32.2 |
| G2E3 | protein polyubiquitination; blastocyst development; protein modification process; multicellular organismal development; negative regulation of apoptotic process | 14q12 |
| G3BP1 | Ras protein signal transduction; transport | 5q33.1 |
| G3BP2 | regulation of small GTPase mediated signal transduction; transport; cytoplasmic sequestering of NF-kappaB; small GTPase mediated signal transduction; Ras protein signal transduction; mRNA transport | 4q21.1 |
| G6PC2 | transmembrane transport; regulation of insulin secretion; carbohydrate metabolic process; gluconeogenesis; hexose transport; glucose transport; glucose homeostasis; small molecule metabolic process | 2q24.3 |
| G6PC3 | hexose transport; gluconeogenesis; carbohydrate metabolic process; transmembrane transport; glucose 6-phosphate metabolic process; small molecule metabolic process; dephosphorylation; glucose-6-phosphate transport; glucose transport | 17q21.31 |
| G6PD | erythrocyte maturation; oxidation-reduction process; glucose 6-phosphate metabolic process; ribose phosphate biosynthetic process; small molecule metabolic process; cellular response to oxidative stress; pentose biosynthetic process; negative regulation of protein glutathionylation; pentose-phosphate shunt, oxidative branch; glutathione metabolic process; NADPH regeneration; cholesterol biosynthetic process; lipid metabolic process; pentose-phosphate shunt; carbohydrate metabolic process; cytokine production | Xq28 |
| GAA | heart morphogenesis; maltose metabolic process; cardiac muscle contraction; ventricular cardiac muscle tissue morphogenesis; neuromuscular process controlling balance; neuromuscular process controlling posture; muscle cell homeostasis; tongue morphogenesis; vacuolar sequestering; tissue development; locomotory behavior; lysosome organization; glucose metabolic process; sucrose metabolic process; glycogen catabolic process; carbohydrate metabolic process; diaphragm contraction; regulation of the force of heart contraction; 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 | osteoclast differentiation; transmembrane receptor protein tyrosine kinase signaling pathway; positive regulation of cell proliferation; positive regulation of mast cell degranulation; phosphatidylinositol-mediated signaling | 11q14.1 |
| GAB3 | - | Xq28 |
| GAB4 | integrin-mediated signaling pathway; intracellular signal transduction; cell migration | 22q11.1 |
| GABARAP | microtubule cytoskeleton organization; protein transport; synaptic transmission; apoptotic process; protein targeting | 17p13.1 |
| GABARAPL1 | - | 12p13.2 |
| GABARAPL2 | intra-Golgi vesicle-mediated transport; autophagy; protein transport; positive regulation of ATPase activity | 16q22.1 |
| GABARAPL3 | - | 15q26.1 |
| GABBR1 | negative regulation of gamma-aminobutyric acid secretion; osteoblast differentiation; negative regulation of adenylate cyclase activity; gamma-aminobutyric acid signaling pathway; synaptic transmission; negative regulation of cell proliferation; regulation of cAMP biosynthetic process; negative regulation of epinephrine secretion; negative regulation of dopamine secretion; regulation of glutamate secretion; response to nicotine; response to ethanol; negative regulation of synaptic transmission; positive regulation of growth hormone secretion | 6p21.31 |
| GABBR2 | negative regulation of adenylate cyclase activity; synaptic transmission; gamma-aminobutyric acid signaling pathway; G-protein coupled receptor signaling pathway | 9q22.1-q22.3 |
| GABPA | negative regulation of transcription from RNA polymerase II promoter; in utero embryonic development; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; positive 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 | chloride transport; transport; gamma-aminobutyric acid signaling pathway; synaptic transmission; ion transmembrane transport; transmembrane transport | 5q34 |
| GABRA2 | regulation of neurotransmitter levels; chloride transport; neurotransmitter transport; gamma-aminobutyric acid signaling pathway; synaptic transmission; ion transmembrane transport; transmembrane transport | 4p12 |
| GABRA3 | transport; ion transmembrane transport; transmembrane transport; gamma-aminobutyric acid signaling pathway; chloride transport; synaptic transmission | Xq28 |
| GABRA4 | transmembrane transport; ion transmembrane transport; synaptic transmission; gamma-aminobutyric acid signaling pathway; chloride transport; transport | 4p12 |
| GABRA5 | signal transduction; cochlea development; innervation; inner ear receptor cell development; transmembrane transport; neuroprotection; ion transmembrane transport; associative learning; sensory perception of sound; brain development; synaptic transmission; gamma-aminobutyric acid signaling pathway; chloride transport; transport; behavioral fear response | 15q12 |
| GABRA6 | signal transduction; transport; chloride transport; gamma-aminobutyric acid signaling pathway; synaptic transmission; ion transmembrane transport; synaptic transmission, GABAergic; transmembrane transport | 5q34 |
| GABRB1 | synaptic transmission; transmembrane transport; ion transmembrane transport; signal transduction; chloride transport; transport | 4p12 |
| GABRB2 | transport; chloride transport; gamma-aminobutyric acid signaling pathway; synaptic transmission; ion transmembrane transport; transmembrane transport | 5q34 |
| GABRB3 | synaptic transmission; transport; chloride transport; cochlea development; signal transduction; neuroprotection; ion transmembrane transport; sensory perception of sound; transmembrane transport; inner ear receptor cell development; innervation | 15q12 |
| GABRD | transport; synaptic transmission; signal transduction; ion transport | 1p36.3 |
| GABRE | gamma-aminobutyric acid signaling pathway; ion transport; transport | Xq28 |
| GABRG1 | gamma-aminobutyric acid signaling pathway; ion transport; synaptic transmission | 4p12 |
| GABRG2 | chloride transport; transmembrane transport; ion transmembrane transport; synaptic transmission; gamma-aminobutyric acid signaling pathway; transport | 5q34 |
| GABRG3 | chloride transport; synaptic transmission; ion transmembrane transport; response to drug; transmembrane transport; gamma-aminobutyric acid signaling pathway | 15q12 |
| GABRP | ion transport | 5q35.1 |
| GABRQ | ion transport; neurotransmitter transport; signal transduction | Xq28 |
| GABRR1 | transmembrane transport; ion transmembrane transport; synaptic transmission; gamma-aminobutyric acid signaling pathway; chloride transport; transport | 6q15 |
| GABRR2 | transmembrane transport; ion transmembrane transport; visual perception; synaptic transmission; gamma-aminobutyric acid signaling pathway; signal transduction; chloride transport; transport | 6q15 |
| GABRR3 | synaptic transmission; gamma-aminobutyric acid signaling pathway; transmembrane transport; chloride transport; ion transmembrane transport | 3q11.2 |
| GAD1 | glutamate catabolic process; glutamate decarboxylation to succinate; synaptic transmission; neurotransmitter secretion; protein-pyridoxal-5-phosphate linkage; carboxylic acid metabolic process; neurotransmitter biosynthetic process; response to drug | 2q31 |
| GAD2 | glutamate decarboxylation to succinate; synaptic transmission; neurotransmitter secretion; carboxylic acid metabolic process; neurotransmitter biosynthetic process; response to drug | 10p11.23 |
| GADD45A | positive regulation of reactive oxygen species metabolic process; G2/M transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; cellular response to ionizing radiation; cellular response to mechanical stimulus; regulation of cell cycle; signal transduction in response to DNA damage; centrosome cycle; cell cycle arrest; response to stress; apoptotic process; negative regulation of protein kinase activity; DNA repair | 1p31.2 |
| GADD45B | regulation of cell cycle; cell differentiation; multicellular organismal development; response to stress; activation of MAPKKK activity; apoptotic process; negative regulation of protein kinase activity; activation of MAPKK activity | 19p13.3 |
| GADD45G | cell differentiation; regulation of cell cycle; multicellular organismal development; response to stress; apoptotic process; negative regulation of protein kinase activity; DNA repair; activation of MAPKK activity; activation of MAPKKK activity | 9q22.1-q22.2 |
| GADD45GIP1 | interspecies interaction between organisms; cell cycle | 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 | smooth muscle contraction; negative regulation of lymphocyte proliferation; response to estrogen stimulus; response to drug; response to insulin stimulus; regulation of glucocorticoid metabolic process; growth hormone secretion; insulin secretion; negative regulation of cell proliferation; positive regulation of apoptotic process; feeding behavior; nervous system development; neuropeptide signaling pathway; inflammatory response; response to stress | 11q13.3 |
| GAL3ST1 | spermatogenesis; sphingolipid metabolic process; protein N-linked glycosylation; glycosphingolipid metabolic process; galactosylceramide biosynthetic process; biosynthetic process; myelination; small molecule metabolic process | 22q12.2 |
| GAL3ST2 | biosynthetic process | 2q37.3 |
| GAL3ST4 | sulfur compound metabolic process; cell-cell signaling; biosynthetic process; glycoprotein metabolic process; oligosaccharide metabolic process; proteoglycan biosynthetic process | 7q22.1 |
| GALC | carbohydrate metabolic process; sphingolipid metabolic process; galactosylceramide catabolic process; glycosphingolipid metabolic process; small molecule metabolic process | 14q31 |
| GALE | small molecule metabolic process; galactose metabolic process; cellular metabolic process; carbohydrate metabolic process; galactose catabolic process | 1p36-p35 |
| GALK1 | small molecule metabolic process; carbohydrate phosphorylation; galactitol metabolic process; galactose catabolic process; galactose metabolic process; carbohydrate metabolic process | 17q24 |
| GALK2 | carbohydrate metabolic process; galactose metabolic process; metabolic process; carbohydrate phosphorylation | 15q21.1-q21.2 |
| GALM | hexose metabolic process; carbohydrate metabolic process | 2p22.1 |
| GALNS | - | 16q24.3 |
| GALNT1 | protein O-linked glycosylation via threonine; post-translational protein modification; cellular protein metabolic process; protein O-linked glycosylation; O-glycan processing; protein O-linked glycosylation via serine | 18q12.1 |
| GALNT10 | cellular protein metabolic process; O-glycan processing; post-translational protein modification | 5q33.2 |
| GALNT11 | cellular protein metabolic process; post-translational protein modification; O-glycan processing; carbohydrate metabolic process | 7q36.1|7q36.1 |
| GALNT12 | post-translational protein modification; O-glycan processing; cellular protein metabolic process | 9q22.33 |
| GALNT13 | O-glycan processing; cellular protein metabolic process; post-translational protein modification | 2q24.1 |
| GALNT14 | O-glycan processing; post-translational protein modification; carbohydrate metabolic process; cellular protein metabolic process | 2p23.1 |
| GALNT15 | - | 3p25.1 |
| GALNT16 | - | 14q24.1 |
| GALNT18 | - | 11p15.3 |
| GALNT2 | immunoglobulin biosynthetic process; O-glycan processing; protein O-linked glycosylation via serine; protein O-linked glycosylation via threonine; post-translational protein modification; cellular protein metabolic process | 1q41-q42 |
| GALNT3 | cellular protein metabolic process; post-translational protein modification; protein O-linked glycosylation via threonine; protein O-linked glycosylation via serine; carbohydrate metabolic process; O-glycan processing | 2q24-q31 |
| GALNT5 | glycosaminoglycan biosynthetic process; cellular protein metabolic process; O-glycan processing; post-translational protein modification | 2q24.1 |
| GALNT6 | protein O-linked glycosylation; O-glycan processing; post-translational protein modification; cellular protein metabolic process | 12q13 |
| GALNT7 | post-translational protein modification; cellular protein metabolic process; O-glycan processing; protein O-linked glycosylation; carbohydrate metabolic process | 4q31.1 |
| GALNT8 | post-translational protein modification; cellular protein metabolic process; O-glycan processing | 12p13.3 |
| GALNT9 | cellular protein metabolic process; protein O-linked glycosylation; post-translational protein modification; O-glycan processing | 12q24.33 |
| GALNTL5 | - | 7q36.1 |
| GALNTL6 | - | 4q34.1 |
| GALP | neuropeptide signaling pathway; response to hormone stimulus; response to insulin stimulus | 19q13.43 |
| GALR1 | activation of adenylate cyclase activity by G-protein signaling pathway; neuropeptide signaling pathway; negative regulation of adenylate cyclase activity; digestion | 18q23 |
| GALR3 | negative regulation of adenylate cyclase activity; feeding behavior; learning or memory; synaptic transmission; neuropeptide signaling pathway | 22q13.1 |
| GALT | galactose metabolic process; carbohydrate metabolic process; UDP-glucose catabolic process; galactose catabolic process; small molecule metabolic process | 9p13 |
| GAMT | cellular nitrogen compound metabolic process; small molecule metabolic process; methylation; muscle contraction; creatine biosynthetic process; creatine metabolic process | 19p13.3 |
| GAN | cell death | 16q24.1 |
| GANAB | carbohydrate metabolic process; protein folding; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 11q12.3 |
| GANC | carbohydrate metabolic process | 15q15.2 |
| GAP43 | activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; response to wounding; nervous system development; multicellular organismal development; cell differentiation; regulation of growth; regulation of filopodium assembly | 3q13.1-q13.2 |
| GAPDH | glycolysis; gluconeogenesis; glucose metabolic process; peptidyl-cysteine S-trans-nitrosylation; small molecule metabolic process; protein stabilization; neuron apoptosis; carbohydrate metabolic process | 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 | positive regulation of glycolysis; small molecule metabolic process; sperm motility; spermatid development; glycolysis; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process | 19q13.12 |
| GAPT | B cell activation | 5q11.2 |
| GAPVD1 | regulation of protein transport; regulation of small GTPase mediated signal transduction; signal transduction; endocytosis | 9q33.3 |
| GAR1 | snRNA pseudouridine synthesis; rRNA processing | 4q25 |
| GAREM1 | - | 18q12.1 |
| GAREM2 | - | 2p23.3 |
| GARNL3 | regulation of small GTPase mediated signal transduction | 9q33.3 |
| GARS | diadenosine tetraphosphate biosynthetic process; gene expression; cell death; glycyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 7p15 |
| GART | purine base metabolic process; purine nucleotide biosynthetic process; 'de novo' IMP biosynthetic process; biosynthetic 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 | cellular response to vascular endothelial growth factor stimulus; positive regulation of mesenchymal cell proliferation; cell cycle arrest; dorsal/ventral neural tube patterning; outer ear morphogenesis; middle ear morphogenesis; embryonic digit morphogenesis; regulation of apoptotic process; camera-type eye development; cell fate commitment; negative regulation of smoothened signaling pathway; cerebellum morphogenesis; programmed cell death; negative regulation of protein processing; 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; regulation of smoothened signaling pathway; axon guidance; cell cycle | 9q21.3-q22 |
| GAS1RR | - | - |
| GAS2 | cellular component disassembly involved in apoptosis; apoptotic process; cell cycle; cell cycle arrest; regulation of cell shape | 11p14.3 |
| GAS2L1 | negative regulation of erythrocyte differentiation; cell cycle arrest; cellular response to starvation; negative regulation of gene expression; negative regulation of microtubule depolymerization; cellular response to thyroid hormone stimulus; microtubule bundle formation; regulation of cell cycle; negative regulation of cell growth | 22q12.2 |
| GAS2L2 | cell cycle arrest; negative regulation of microtubule depolymerization; microtubule bundle formation | 17q12 |
| GAS2L3 | cell cycle arrest | 12q23.1 |
| GAS5 | - | 1q25.1 |
| GAS5-AS1 | - | - |
| GAS6 | leukocyte migration; platelet degranulation; proteolysis; signal transduction; blood coagulation; cell proliferation; peptidyl-glutamic acid carboxylation; platelet activation; regulation of growth; post-translational protein modification; cellular protein metabolic process; positive regulation of fibroblast proliferation; positive regulation of ERK1 and ERK2 cascade | 13q34 |
| GAS6-AS1 | - | 13q34 |
| GAS6-AS2 | - | 13q34 |
| GAS7 | actin filament bundle assembly; regulation of transcription, DNA-dependent; cell cycle arrest; multicellular organismal development; nervous system development; regulation of cell shape; actin filament polymerization; neuron differentiation; neuron projection morphogenesis | 17p13.1 |
| GAS8 | negative regulation of cell proliferation; sperm motility | 16q24.3 |
| GATA1 | eosinophil differentiation; basophil differentiation; blood coagulation; negative regulation of transcription from RNA polymerase II promoter; in utero embryonic development; transcription from RNA polymerase II promoter; regulation of definitive erythrocyte differentiation; regulation of glycoprotein biosynthetic process; male gonad development; negative regulation of cell proliferation; cell-cell signaling; erythrocyte development; negative regulation of transcription regulatory region DNA binding; cellular response to thyroid hormone stimulus; dendritic cell differentiation; transcriptional activation by promoter-enhancer looping; cellular response to follicle-stimulating hormone stimulus; cellular response to cAMP; platelet aggregation; Sertoli cell development; positive regulation of peptidyl-tyrosine phosphorylation; platelet formation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of anti-apoptosis; negative regulation of apoptotic process; eosinophil fate co | Xp11.23 |
| GATA2 | transcription, DNA-dependent; 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; negative regulation of fat cell differentiation; negative regulation of myeloid cell differentiation; positive regulation of erythrocyte differentiation; negative regulation of macrophage differentiation; positive regulation of megakaryocyte differentiation; negative regulation of Notch signaling pathway; positive regulation of transcription from RNA polymerase II promoter; blood coagulation; embryonic placenta development; cell fate determination; urogenital system development; negative regulation of transcription from RNA polymerase II promoter; ventral spinal cord interneuron differentiation; cell differentiation in hindbrain; central nervous system neuron development; pituitary gland developm | 3q21.3 |
| GATA3 | cardiac right ventricle morphogenesis; negative regulation of transcription from RNA polymerase II promoter; cell fate determination; kidney development; mesonephros development; aortic valve morphogenesis; nephric duct morphogenesis; sympathetic nervous system development; anatomical structure formation involved in morphogenesis; negative regulation of inflammatory response; T cell receptor signaling pathway; positive regulation of protein kinase B signaling cascade; pharyngeal system development; uterus development; mesenchymal to epithelial transition; ureteric bud formation; canonical Wnt receptor signaling pathway involved in metanephric kidney development; cellular response to interleukin-4; cellular response to tumor necrosis factor; positive regulation of ureteric bud formation; ventricular septum development; nephric duct formation; regulation of nephron tubule epithelial cell differentiation; lymphocyte migration; negative regulation of cell motility; negative regulation of endothelial cell apoptosi | 10p15 |
| GATA3-AS1 | - | 10p14 |
| GATA4 | intestinal epithelial cell differentiation; cellular response to follicle-stimulating hormone stimulus; epithelial cell fate commitment; seminiferous tubule development; gastrulation with mouth forming second; atrial septum secundum morphogenesis; embryonic heart tube anterior/posterior pattern specification; response to retinoic acid; positive regulation of BMP signaling pathway; signal transduction involved in regulation of gene expression; positive regulation vascular endothelial growth factor production; male gonad development; blood coagulation; endoderm development; spermatogenesis; cell-cell signaling; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; atrial septum 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 lo | 8p23.1-p22 |
| GATA5 | blood coagulation; positive regulation of transcription from RNA polymerase II promoter; intestinal epithelial cell differentiation | 20q13.33 |
| GATA6 | cellular response to gonadotropin stimulus; response to estrogen stimulus; positive regulation of angiogenesis; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; organ formation; smooth muscle cell differentiation; blood coagulation; cellular response to hypoxia; lung saccule development; positive regulation of cell cycle arrest; response to growth factor stimulus; cardiac vascular smooth muscle cell differentiation; intestinal epithelial cell differentiation; Type II pneumocyte differentiation; Clara cell differentiation; response to cAMP; positive regulation of cardioblast differentiation; cardiac muscle cell differentiation; positive regulation of cardiac muscle cell proliferation; in utero embryonic development; response to toxin; male gonad development; endodermal cell fate determination; negative regulation of transcription from RNA polymerase II promoter; positive regulation of BMP signaling pathway; epithelial cell differentiatio | 18q11.1-q11.2 |
| GATA6-AS1 | - | 18q11.2 |
| GATAD1 | - | 7q21-q22 |
| GATAD2A | programmed cell death; negative regulation of transcription, DNA-dependent; anterior neuropore closure; embryonic body morphogenesis; DNA methylation; neural fold formation; in utero embryonic development; blood vessel development | 19p13.11 |
| GATAD2B | - | 1q21.3 |
| GATB | translation; glutaminyl-tRNAGln biosynthesis via transamidation; mitochondrial translation | 4q31.3 |
| GATC | glutaminyl-tRNAGln biosynthesis via transamidation; mitochondrial translation; regulation of translational fidelity | 12q24.31 |
| GATM | creatine metabolic process; response to mercury ion; small molecule metabolic process; response to peptide hormone stimulus; tissue regeneration; cellular nitrogen compound metabolic process; response to organic substance; embryo development; response to nutrient; response to oxidative stress; creatine biosynthetic process | 15q21.1 |
| GATS | - | 7q22.1 |
| GATSL1 | - | 7q11.23 |
| GATSL2 | - | 7q11.23 |
| GATSL3 | - | 22q12 |
| GBA | cellular response to tumor necrosis factor; negative regulation of inflammatory response; ceramide biosynthetic process; sphingosine biosynthetic process; small molecule metabolic process; negative regulation of interleukin-6 production; negative regulation of MAP kinase activity; termination of signal transduction; cell death; lysosome organization; glycosphingolipid metabolic process; glucosylceramide catabolic process; sphingolipid metabolic process; lipid metabolic process; carbohydrate metabolic process; positive regulation of protein dephosphorylation | 1q21 |
| GBA2 | lipid metabolic process; small molecule metabolic process; O-glycoside catabolic process; sphingolipid metabolic process; glucosylceramide catabolic process; glycosphingolipid metabolic process; bile acid metabolic process | 9p13.3 |
| GBA3 | glycoside catabolic process; small molecule metabolic process; glycosylceramide catabolic process; glycosphingolipid metabolic process; sphingolipid metabolic process; carbohydrate metabolic process | 4p15.2 |
| GBAP1 | - | 1q21 |
| GBAS | - | 7p12 |
| GBE1 | generation of precursor metabolites and energy; small molecule metabolic process; glucose metabolic process; glycogen biosynthetic process; glycogen metabolic process; carbohydrate metabolic process | 3p12.3 |
| GBF1 | retrograde vesicle-mediated transport, Golgi to ER; COPI coating of Golgi vesicle; post-Golgi vesicle-mediated transport; cellular membrane organization; regulation of ARF protein signal transduction | 10q24 |
| GBGT1 | metabolic process; glycolipid biosynthetic process; carbohydrate 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; type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway; immune response | 1p22.2 |
| GBP3 | - | 1p22.2 |
| GBP4 | - | 1p22.2 |
| GBP5 | cellular response to interferon-gamma | 1p22.2 |
| GBP6 | - | 1p22.2 |
| GBP7 | - | 1p22.2 |
| GBX2 | autonomic nervous system development; axon guidance; inner ear morphogenesis; tube morphogenesis; hindbrain development; cerebellar granule cell precursor proliferation; rhombomere 2 development; midbrain-hindbrain boundary morphogenesis; cell proliferation; nervous system development; regulation of transcription, DNA-dependent; neural crest cell migration; patterning of blood vessels; cerebellum development | 2q37.2 |
| GC | steroid metabolic process; vitamin D metabolic process; small molecule metabolic process; vitamin transport | 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; Golgi ribbon formation; protein targeting to lysosome; regulation of protein exit from endoplasmic reticulum; Golgi to plasma membrane protein transport; retrograde transport, endosome to Golgi; late endosome to Golgi transport; microtubule anchoring; protein localization in Golgi apparatus; microtubule organizing center organization; protein transport; protein targeting to Golgi | 2q12.3 |
| GCDH | acyl-CoA metabolic process; fatty-acyl-CoA biosynthetic process; small molecule metabolic process; cellular nitrogen compound metabolic process; fatty acid oxidation; lysine catabolic process | 19p13.2 |
| GCFC2 | negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 2p12 |
| GCG | positive regulation of calcium ion import; positive regulation of insulin secretion involved in cellular response to glucose stimulus; cellular response to glucagon stimulus; positive regulation of ERK1 and ERK2 cascade; regulation of insulin secretion; positive regulation of protein kinase activity; small molecule metabolic process; negative regulation of apoptotic process; positive regulation of peptidyl-serine phosphorylation; negative regulation of appetite; positive regulation of protein binding; positive regulation of peptidyl-threonine phosphorylation; protein kinase A signaling cascade; positive regulation of cAMP biosynthetic process; cell proliferation; feeding behavior; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein coupled receptor signaling pathway; signal transduction; energy reserve metabolic process | 2q36-q37 |
| GCGR | G-protein signaling, coupled to cAMP nucleotide second messenger; cellular response to glucagon stimulus; 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; energy reserve metabolic process; generation of precursor metabolites and energy; exocytosis | 17q25 |
| GCH1 | response to pain; vasodilation; dopamine biosynthetic process; protein heterooligomerization; pteridine-containing compound biosynthetic process; small molecule metabolic process; negative regulation of blood pressure; nitric oxide metabolic process; tetrahydrofolate biosynthetic process; neuromuscular process controlling posture; protein homooligomerization; dihydrobiopterin metabolic process; positive regulation of nitric-oxide synthase activity; regulation of nitric-oxide synthase activity; response to lipopolysaccharide; response to interferon-gamma; regulation of lung blood pressure; regulation of blood pressure; induction of apoptosis; nitric oxide biosynthetic process; tetrahydrobiopterin biosynthetic process; protein complex assembly; GTP catabolic process; response to tumor necrosis factor | 14q22.1-q22.2 |
| GCHFR | small molecule metabolic process; protein complex assembly; nitric oxide biosynthetic process; negative regulation of biosynthetic process; neurotransmitter metabolic process; negative regulation of GTP cyclohydrolase I activity; protein heterooligomerization; regulation of nitric-oxide synthase activity; nitric oxide metabolic process | 15q15 |
| GCKR | small molecule metabolic process; triglyceride homeostasis; transmembrane transport; urate metabolic process; positive regulation of glucokinase activity; negative regulation of glucokinase activity; glucose transport; regulation of glucose transport; positive regulation of gene expression; response to fructose stimulus; hexose transport; carbohydrate metabolic process; cellular glucose homeostasis; protein import into nucleus, translocation | 2p23 |
| GCLC | response to xenobiotic stimulus; response to heat; response to oxidative stress; anti-apoptosis; xenobiotic metabolic process; glutathione biosynthetic process; glutamate metabolic process; cysteine metabolic process; sulfur amino acid metabolic process; regulation of mitochondrial depolarization; response to nitrosative stress; regulation of blood vessel size; negative regulation of transcription, DNA-dependent; cell redox homeostasis; response to hormone stimulus; L-ascorbic acid metabolic process; negative regulation of protein ubiquitination; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic process; negative regulation of neuron apoptosis; small molecule metabolic process; response to arsenic-containing substance | 6p12 |
| GCLM | negative regulation of neuron apoptosis; regulation of mitochondrial depolarization; response to nitrosative stress; regulation of blood vessel size; small molecule metabolic process; 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 | 1p22.1 |
| GCM1 | regulation of transcription, DNA-dependent; cell differentiation involved in embryonic placenta development; branching involved in embryonic placenta morphogenesis; astrocyte fate commitment; anatomical structure morphogenesis; multicellular organismal development | 6p12.1 |
| GCM2 | cellular phosphate ion homeostasis; multicellular organismal development; cellular calcium ion homeostasis; parathyroid gland development; regulation of transcription, DNA-dependent | 6p23 |
| GCN1 | translation; regulation of translation | 12q24.2 |
| GCNT1 | protein O-linked glycosylation; O-glycan processing; post-translational protein modification; cellular protein metabolic process | 9q13 |
| GCNT1P1 | - | 20p11.23 |
| GCNT1P2 | - | - |
| GCNT1P3 | - | - |
| GCNT2 | metabolic process; multicellular organismal development; glycosaminoglycan biosynthetic process | 6p24.2 |
| GCNT3 | O-glycan processing; cellular protein metabolic process; protein O-linked glycosylation; carbohydrate metabolic process; post-translational protein modification | 15q21.3 |
| GCNT4 | O-glycan processing; kidney morphogenesis; homeostasis of number of cells; tissue morphogenesis; cellular protein metabolic process; post-translational protein modification; thyroid hormone metabolic process; protein O-linked glycosylation; carbohydrate metabolic process; inter-male aggressive behavior | 5q12 |
| GCNT6 | - | 6p24.2 |
| GCNT7 | - | 20q13.2 |
| GCOM2 | maintenance of ER location | 4q12 |
| GCRG224 | - | 11q13-q14 |
| GCSAM | - | 3q13.2 |
| GCSAML | - | 1q44 |
| GCSH | glycine catabolic process; glycine decarboxylation via glycine cleavage system | 16q23.2 |
| GCSHP3 | - | - |
| GDA | nucleobase-containing compound metabolic process; purine base metabolic process; purine nucleotide catabolic process; nervous system development; nucleobase-containing small molecule metabolic process; small molecule metabolic 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 | cerebellum development; skeletal system development; transforming growth factor beta receptor signaling pathway; regulation of ossification; growth; ovulation cycle; positive regulation of osteoblast differentiation; response to transforming growth factor beta stimulus | 10q11.22 |
| GDF11 | growth; pancreas development; negative regulation of neuron differentiation; organ morphogenesis; nervous system development; skeletal system development; metanephros development; ureteric bud development; spinal cord anterior/posterior patterning; cell maturation; camera-type eye morphogenesis; mesoderm development; negative regulation of cell proliferation | 12q13.2 |
| GDF15 | signal transduction; transforming growth factor beta receptor signaling pathway; cell-cell signaling | 19p13.11 |
| GDF2 | activin receptor signaling pathway; pathway-restricted SMAD protein phosphorylation; cartilage development; blood vessel morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of angiogenesis; negative regulation of endothelial cell proliferation; vasculogenesis; patterning of blood vessels; positive regulation of transcription, DNA-dependent; positive regulation of endothelial cell proliferation; cellular iron ion homeostasis; negative regulation of DNA replication; negative regulation of endothelial cell migration; positive regulation of pathway-restricted SMAD protein phosphorylation; negative regulation of angiogenesis; negative regulation of cell growth; BMP signaling pathway; positive regulation of BMP signaling pathway; ossification; growth; negative regulation of blood vessel endothelial cell migration; positive regulation of endothelial cell differentiation; positive regulation of osteoblast differentiation | 10q11.22 |
| GDF5 | embryonic limb morphogenesis; cell-cell signaling; 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 | 20q11.2 |
| GDF6 | positive regulation of pathway-restricted SMAD protein phosphorylation; pathway-restricted SMAD protein phosphorylation; positive regulation of transcription, DNA-dependent; positive regulation of neuron differentiation; growth; activin receptor signaling pathway; BMP signaling pathway | 8q22.1 |
| GDF7 | branching morphogenesis of a tube; morphogenesis of an epithelial fold; positive regulation of tendon cell differentiation; forebrain morphogenesis; pathway-restricted SMAD protein phosphorylation; reproductive structure development; positive regulation of transcription, DNA-dependent; cell fate commitment; midbrain development; epithelial cell differentiation; activin receptor signaling pathway; growth; BMP signaling pathway; gland morphogenesis; neural tube development; axon guidance; positive regulation of pathway-restricted SMAD protein phosphorylation; roof plate formation; spinal cord association neuron differentiation; positive regulation of neuron differentiation | 2p24.1 |
| GDF9 | regulation of progesterone secretion; negative regulation of cell growth; positive regulation of cell proliferation; female gamete generation; transforming growth factor beta receptor signaling pathway; oocyte growth | 5q31.1 |
| GDI1 | signal transduction; regulation of small GTPase mediated signal transduction; protein transport; small GTPase mediated signal transduction | Xq28 |
| GDI2 | small GTPase mediated signal transduction; protein transport; regulation of small GTPase mediated signal transduction; signal transduction | 10p15 |
| GDI2P1 | - | 7p12.3 |
| GDI2P2 | - | - |
| GDNF | negative regulation of neuron apoptosis; positive regulation of transcription from RNA polymerase II promoter; mRNA stabilization; enteric nervous system development; sympathetic nervous system development; regulation of dopamine uptake; regulation of morphogenesis of a branching structure; positive regulation of ureteric bud formation; anti-apoptosis; positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; positive regulation of branching involved in ureteric bud morphogenesis; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; positive regulation of monooxygenase activity; neuron projection development; peristalsis; postganglionic parasympathetic nervous system development; adult locomotory behavior; axon guidance; nervous system development; signal transduction; postsynaptic membrane organization; organ induction; neural crest cell migration; metanephros development; positive regulation of dopamine secretion; ureteric bud developmen | 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 | lipid metabolic process; glycerol metabolic process | 16p11.2 |
| GDPD4 | glycerol metabolic process; lipid metabolic process | 11q13.5 |
| GDPD5 | glycerol metabolic process; lipid metabolic process; nervous system development | 11q13.4-q13.5 |
| GDPGP1 | - | 15q26.1 |
| GEM | GTP catabolic process; small GTPase mediated signal transduction; cell surface receptor signaling pathway; signal transduction; immune response | 8q13-q21 |
| GEMIN2 | ncRNA metabolic process; spliceosome assembly; RNA splicing, via transesterification reactions; spliceosomal snRNP assembly; mRNA processing; RNA splicing; gene expression; RNA metabolic process | 14q13 |
| GEMIN4 | ncRNA metabolic process; RNA splicing; rRNA processing; spliceosomal snRNP assembly; gene expression; mRNA processing; RNA metabolic process | 17p13 |
| GEMIN5 | RNA splicing; ncRNA metabolic process; RNA metabolic process; gene expression; protein complex assembly; nuclear mRNA splicing, via spliceosome; spliceosomal snRNP assembly | 5q33.2 |
| GEMIN6 | RNA splicing; nuclear mRNA splicing, via spliceosome; gene expression; spliceosomal snRNP assembly; spliceosome assembly; RNA metabolic process; ncRNA metabolic process | 2p22.1 |
| GEMIN7 | spliceosomal snRNP assembly; nuclear mRNA splicing, via spliceosome; RNA metabolic process; ncRNA metabolic process; RNA splicing; gene expression | 19q13.32 |
| GEMIN8 | spliceosomal snRNP assembly; mRNA processing; RNA splicing | 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; response to wounding; positive regulation of Schwann cell proliferation; negative regulation of neuron projection development; astrocyte development | 17q21 |
| GFER | spermatogenesis; cell proliferation; oxidation-reduction process | 16p13.3-p13.12 |
| GFI1 | negative regulation of neuron projection development; cellular response to lipopolysaccharide; positive regulation of interleukin-6-mediated signaling pathway; negative regulation of transcription, DNA-dependent; regulation of toll-like receptor signaling pathway; negative regulation of NF-kappaB transcription factor activity; viral reproduction; negative regulation of vitamin D biosynthetic process; 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 | 1p22 |
| GFI1B | chromatin modification; positive regulation of granulocyte differentiation; regulation of erythrocyte differentiation; negative regulation of histone H3-K4 methylation; positive regulation of histone H3-K9 methylation; multicellular organismal development; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; cell proliferation; regulation of transcription involved in G1 phase of mitotic cell cycle | 9q34.13 |
| GFM1 | GTP catabolic process; mitochondrial translational elongation | 3q25 |
| GFM2 | mitochondrial translational elongation; ribosome disassembly; mitochondrial translation; GTP catabolic process | 5q13 |
| GFOD1 | - | 6pter-p22.1 |
| GFOD1-AS1 | - | - |
| GFOD2 | extracellular matrix organization | 16q22.1 |
| GFPT1 | protein N-linked glycosylation via asparagine; endoplasmic reticulum unfolded protein response; post-translational protein modification; cellular protein metabolic process; UDP-N-acetylglucosamine biosynthetic process; metabolic process; activation of signaling protein activity involved in unfolded protein response; glutamine metabolic process; carbohydrate biosynthetic process; dolichol-linked oligosaccharide biosynthetic process; energy reserve metabolic process; fructose 6-phosphate metabolic process | 2p13 |
| GFPT2 | post-translational protein modification; protein N-linked glycosylation via asparagine; carbohydrate biosynthetic process; metabolic process; fructose 6-phosphate metabolic process; UDP-N-acetylglucosamine biosynthetic process; energy reserve metabolic process; dolichol-linked oligosaccharide biosynthetic process; glutamine metabolic process; 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 | transmembrane receptor protein tyrosine kinase signaling pathway; glial cell-derived neurotrophic factor receptor signaling pathway | 8p21.3 |
| GFRA3 | neuron development; sympathetic nervous system development; peripheral nervous system development; signal transduction; neuron migration; nervous system development | 5q31.1-q31.3 |
| GFRAL | stress-activated protein kinase signaling cascade; anti-apoptosis | 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 | protein modification process; blood coagulation; embryo development; peptidyl-glutamic acid carboxylation; response to vitamin K; post-translational protein modification; cellular protein metabolic process | 2p12 |
| GGH | response to ethanol; response to drug; response to insulin stimulus; response to zinc ion; glutamine metabolic process | 8q12.3 |
| GGN | cell differentiation; protein localization; spermatogenesis; gamete generation; multicellular organismal development | 19q13.2 |
| GGNBP1 | cell differentiation; spermatogenesis; multicellular organismal development; mitochondrial fission | 6p21 |
| GGNBP2 | multicellular organismal development; spermatogenesis; cell differentiation | 17q12 |
| GGPS1 | isoprenoid biosynthetic process; isoprenoid metabolic process; small molecule metabolic process; cholesterol biosynthetic process | 1q43 |
| GGT1 | spermatogenesis; xenobiotic metabolic process; glutathione biosynthetic process; regulation of inflammatory response; small molecule metabolic process; leukotriene biosynthetic process; cysteine biosynthetic process; glutathione metabolic process; cellular amino acid metabolic process; regulation of immune system process | 22q11.23 |
| GGT2 | glutathione metabolic process; glutathione biosynthetic process; xenobiotic metabolic process; leukotriene biosynthetic process; small molecule metabolic process | 22q11.21 |
| GGT3P | glutathione metabolic process; glutathione biosynthetic process; leukotriene biosynthetic process | 22q11.21 |
| GGT5 | small molecule metabolic process; leukotriene biosynthetic process; metabolic process; inflammatory response; glutathione biosynthetic process; glutathione metabolic process; prostanoid metabolic process; cellular amino acid metabolic process | 22q11.23 |
| GGT6 | glutathione metabolic process; leukotriene biosynthetic process; glutathione biosynthetic process | 17p13.2 |
| GGT7 | leukotriene biosynthetic process; glutathione biosynthetic process; glutathione metabolic process | 20q11.22 |
| GGT8P | - | 2p11.1 |
| GGTA1P | leukotriene biosynthetic process; glutathione metabolic process; carbohydrate 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 | JAK-STAT cascade involved in growth hormone signaling pathway; growth hormone receptor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of JAK-STAT cascade; positive regulation of insulin-like growth factor receptor signaling pathway; bone maturation; 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 multicellular organism growth; response to estradiol stimulus; glucose transport; positive regulation of phosphatidylinositol 3-kinase cascade; positive regulation of activation of JAK2 kinase activity; JAK-STAT cascade; positive regulation of receptor internalization | 17q24.2 |
| GHDC | - | 17q21.2 |
| GHET1 | - | 7q36.1 |
| GHITM | apoptotic process | 10q23.1 |
| GHR | valine metabolic process; receptor internalization; taurine metabolic process; insulin-like growth factor receptor signaling pathway; hormone-mediated signaling pathway; JAK-STAT cascade; endocytosis; fatty acid metabolic process; creatine metabolic process; response to food; isoleucine metabolic process; oxaloacetate metabolic process; succinate metabolic process; 2-oxoglutarate metabolic process; citrate metabolic process; allantoin metabolic process; activation of MAPK activity; activation of JAK2 kinase activity; response to cycloheximide; creatinine metabolic process; positive regulation of JAK-STAT cascade; positive regulation of cell differentiation; multicellular organismal metabolic process; neuroprotection; response to peptide hormone stimulus; response to morphine; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of multicellular organism g | 5p13-p12 |
| GHRHR | water homeostasis; cAMP-mediated signaling; adenohypophysis development; hormone metabolic process; positive regulation of cAMP biosynthetic process; response to insulin stimulus; cellular response to insulin stimulus; determination of adult lifespan; positive regulation of cell proliferation; lactation; activation of adenylate cyclase activity by G-protein signaling pathway; G-protein coupled receptor signaling pathway; positive regulation of multicellular organism growth; regulation of intracellular steroid hormone receptor signaling pathway; positive regulation of insulin-like growth factor receptor signaling pathway; positive regulation of hormone secretion; cell maturation; multicellular organismal reproductive process; regulation of protein metabolic process; response to glucocorticoid stimulus; positive regulation of growth hormone secretion; somatotropin secreting cell development; response to estrogen stimulus | 7p14 |
| GHRL | decidualization; dendrite development; negative regulation of insulin secretion; positive regulation of circadian sleep/wake cycle, non-REM sleep; negative regulation of interleukin-6 biosynthetic process; response to estrogen stimulus; cortisol secretion; negative regulation of apoptotic process; negative regulation of tumor necrosis factor biosynthetic process; negative regulation of circadian sleep/wake cycle, REM sleep; regulation of cell proliferation; positive regulation of multicellular organism growth; negative regulation of locomotion; negative regulation of interleukin-1 beta production; positive regulation of appetite; positive regulation of insulin secretion; growth hormone secretion; negative regulation of angiogenesis; positive regulation of growth hormone secretion; hormone-mediated signaling pathway; activation of MAPK activity; gastric acid secretion; negative regulation of endothelial cell proliferation; glucose metabolic process; anti-apoptosis; G-protein coupled receptor signaling pathway; | 3p26-p25 |
| GHRLOS | - | 3p25.3 |
| GID4 | - | 17p11.2 |
| GID8 | - | 20q13.33 |
| GIF | cobalamin metabolic process; cobalamin transport; cobalt ion transport; ion 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 | positive regulation of membrane potential; T cell differentiation; negative regulation of interferon-gamma production; positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation; myeloid dendritic 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; T cell homeostasis; negative regulation of apoptotic process; negative regulation of nitric oxide biosynthetic process; positive regulation of gamma-delta T cell differentiation; negative regulation of lipid catabolic process; negative regulation of T cell activation; regulation of mitochondrial membrane permeability; positive regulation of natural killer cell mediated cytotoxicity | 7q36.1 |
| GIMAP6 | - | - |
| GIMAP7 | - | 7q36.1 |
| GIMAP8 | - | 7q36.1 |
| GIMD1 | - | 4q24 |
| GIN1 | DNA integration | 5q21.1 |
| GINM1 | - | 6q25.1 |
| GINS1 | mitotic cell cycle; DNA replication; inner cell mass cell proliferation; S phase of mitotic cell cycle; DNA strand elongation involved in DNA replication | 20p11.21 |
| GINS2 | DNA strand elongation involved in DNA replication; DNA replication; mitotic cell cycle; S phase of mitotic cell cycle | 16q24.1 |
| GINS3 | DNA replication | 16q21 |
| GINS4 | DNA replication; DNA strand elongation involved in DNA replication; mitotic cell cycle; S phase of mitotic cell cycle | 8p11.21 |
| GIP | positive regulation of cAMP-mediated signaling; response to drug; triglyceride homeostasis; positive regulation of glucagon secretion; long-term synaptic potentiation; digestive system development; regulation of insulin secretion; response to axon injury; small molecule metabolic process; response to peptide hormone stimulus; response to amino acid stimulus; response to starvation; 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; energy reserve metabolic process | 17q21.3-q22 |
| GIPC1 | protein targeting; G-protein coupled receptor signaling pathway; synaptic transmission; glutamate secretion; positive regulation of transforming growth factor beta receptor signaling pathway; regulation of protein stability; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; endothelial cell migration; regulation of synaptic plasticity | 19p13.1 |
| GIPC2 | - | 1p31.1 |
| GIPC3 | - | 19p13.3 |
| GIPR | response to glucose stimulus; elevation of cytosolic calcium ion concentration; response to nutrient; response to axon injury; positive regulation of cAMP biosynthetic process; positive regulation of insulin secretion; response to calcium ion; activation of adenylate cyclase activity; 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; response to fatty acid | 19q13.3 |
| GIT1 | regulation of G-protein coupled receptor protein signaling pathway; regulation of ARF GTPase activity | 17p11.2 |
| GIT2 | regulation of G-protein coupled receptor protein signaling pathway; regulation of ARF GTPase activity | 12q24.1 |
| GJA1 | transport; regulation of calcium ion transport; response to pH; vascular transport; ATP transport; cellular membrane organization; gap junction assembly; ion transmembrane transport; positive regulation of I-kappaB kinase/NF-kappaB cascade; response to peptide hormone stimulus; positive regulation of protein catabolic process; neuron projection morphogenesis; protein oligomerization; negative regulation of cell proliferation; heart development; cell-cell signaling; signal transduction; muscle contraction; apoptotic process | 6q22.31 |
| GJA1P1 | - | 5q21.3 |
| GJA3 | transport; cell-cell signaling; visual perception; response to pH; response to hydrogen peroxide | 13q12.11 |
| GJA4 | cell-cell signaling; blood vessel development; transport; calcium ion transport; cell-cell junction assembly; cell communication; response to pain | 1p35.1 |
| GJA5 | embryonic limb morphogenesis; angiogenesis; skeletal system development; blood vessel development; transport; muscle contraction; cell-cell junction assembly; cell-cell signaling; embryonic heart tube development | 1q21.1 |
| GJA6P | - | Xp22 |
| GJA8 | visual perception; lens development in camera-type eye; transport; cell communication | 1q21.1 |
| GJA9 | cell communication | 1p34 |
| GJB1 | transport; cell-cell signaling; nervous system development; purine ribonucleotide transport; cellular membrane organization; gap junction assembly; protein oligomerization | Xq13.1 |
| GJB2 | cellular membrane organization; cell-cell signaling; gap junction assembly; male genitalia development; sensory perception of sound; transport | 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; spongiotrophoblast differentiation; cell communication; epidermis development | 1p35.1 |
| GJB6 | cell communication; sensory perception of sound; ear morphogenesis | 13q12 |
| GJB7 | cell communication | 6q15 |
| GJC1 | cell-cell junction assembly; vasculogenesis; visual perception; transport; synaptic transmission; muscle contraction; cardiac muscle tissue development; cell development; cellular membrane organization; gap junction assembly | 17q21.31 |
| GJC2 | transmembrane transport; cell-cell signaling; response to toxin; cell death | 1q42.13 |
| GJC3 | myelination; cell communication; sensory perception of sound | 7q22.1 |
| GJD3 | cell communication; gap junction assembly | 17q21.2 |
| GJD4 | cell communication | 10p11.21 |
| GK | carbohydrate metabolic process; triglyceride biosynthetic process; cellular lipid metabolic process; small molecule metabolic process; glycerol-3-phosphate biosynthetic process; glycerol metabolic process; triglyceride metabolic process | Xp21.3 |
| GK3P | - | 4q32.1 |
| GK5 | glycerol metabolic process; carbohydrate metabolic process | 3q23 |
| GKAP1 | signal transduction | 9q21.32 |
| GKN1 | positive regulation of cell division; positive regulation of cell proliferation; digestion | 2p13.3 |
| GKN2 | - | 2p13.3 |
| GLA | negative regulation of nitric-oxide synthase activity; glycosphingolipid catabolic process; glycosylceramide catabolic process; negative regulation of nitric oxide biosynthetic process; small molecule metabolic process; glycoside catabolic process; oligosaccharide metabolic process; glycosphingolipid metabolic process; sphingolipid metabolic process | Xq22 |
| GLB1 | galactose catabolic process; glycosphingolipid metabolic process; sphingolipid metabolic process; carbohydrate metabolic process; small molecule 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 | multicellular organismal development; nervous system development; cell differentiation | 15q21.2 |
| GLE1 | mRNA export from nucleus; poly(A)+ mRNA export from nucleus; protein transport | 9q34.11 |
| GLG1 | regulation of chondrocyte differentiation; negative regulation of protein processing; negative regulation of transforming growth factor beta receptor signaling pathway; bone morphogenesis | 16q22.3 |
| GLI1 | digestive tract morphogenesis; negative regulation of canonical Wnt receptor signaling pathway; osteoblast differentiation; smoothened signaling pathway; multicellular organismal development; positive regulation of cell proliferation; regulation of smoothened signaling pathway; 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 | 12q13.2-q13.3 |
| GLI2 | embryonic digestive tract 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; spinal cord ventral commissure morphogenesis; specification of segmental identity, maxillary segment; proximal/distal pattern formation; epidermal cell differentiation; regulation of smoothened signaling pathway; positive regulation of cell proliferation; cell proliferation; heart development; hindgut morphogenesis; ventral midline development; axon guidance; pattern specification process; positive regulation of transcription, DNA-dependent; smoothened signaling pathway; apoptotic process; regulation of transcription, DNA-dependent; osteoblast development; morphogenesis of an epithelium; kidney development; in utero embryonic development; osteoblast di | 2q14 |
| GLI3 | anatomical structure formation involved in morphogenesis; neuron fate commitment; 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; anterior semicircular canal development; lateral semicircular canal development; cell differentiation involved in kidney development; thymocyte apoptosis; negative regulation of canonical Wnt receptor signaling pathway; mammary gland development; lateral ganglionic eminence cell proliferation; subpallium development; optic nerve morphogenesis; smoothened signaling pathway involved in ventral spinal cord interneuron specification; smoothened signaling pathway involved in spinal cord motor neuron cell fate specification; forebrain dorsal/ventral pattern formation; cerebral cortex radial glia guided | 7p13 |
| GLI4 | - | 8q24.3 |
| GLIDR | - | 9q21.11 |
| GLIPR1 | small molecule metabolic process; cellular lipid metabolic process | 12q21.2 |
| GLIPR1L1 | - | 12q21.2 |
| GLIPR1L2 | - | 12q21.2 |
| GLIPR2 | - | 9p13.3 |
| GLIS1 | transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter | 1p32.3 |
| GLIS2 | negative regulation of transcription from RNA polymerase II promoter; multicellular organismal development; nervous system development; cell differentiation; negative regulation of sequence-specific DNA binding transcription factor activity; 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 | 16p13.3 |
| GLIS3 | transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter | 9p24.2 |
| GLIS3-AS1 | - | 9p24.2 |
| GLMN | positive regulation of cytokine secretion; positive regulation of interleukin-2 biosynthetic process; muscle cell differentiation; positive regulation of phosphorylation; negative regulation of T cell proliferation; regulation of gene expression, epigenetic; vasculogenesis | 1p22.1 |
| GLMP | intracellular receptor mediated signaling pathway; positive regulation of transcription from RNA polymerase II promoter; regulation of RNA biosynthetic process | 1q22 |
| GLO1 | glutathione metabolic process; anti-apoptosis; metabolic process; methylglyoxal metabolic process; carbohydrate metabolic process | 6p21.3-p21.1 |
| GLOD4 | - | 17p13.3 |
| GLOD5 | - | Xp11.23 |
| GLP1R | activation of adenylate cyclase activity; positive regulation of insulin secretion; cAMP-mediated signaling; response to glucose stimulus; associative learning; positive regulation of cell proliferation; feeding behavior; memory; elevation of cytosolic calcium ion concentration; activation of adenylate cyclase activity by G-protein signaling pathway; energy reserve metabolic process; negative regulation of apoptotic process; neuroprotection; small molecule metabolic process; positive regulation of cell differentiation; positive regulation of blood pressure; positive regulation of heart contraction; positive regulation of transcription from RNA polymerase II promoter; regulation of insulin secretion; release of sequestered calcium ion into cytosol; positive regulation of calcium ion transport via voltage-gated calcium channel activity | 6p21 |
| GLP2R | G-protein signaling, coupled to cAMP nucleotide second messenger; positive regulation of cell proliferation | 17p13.3 |
| GLRA1 | positive regulation of acrosome reaction; chloride transport; regulation of inhibitory postsynaptic membrane potential; righting reflex; synaptic transmission, glycinergic; transmembrane transport; negative regulation of transmission of nerve impulse; neuromuscular process controlling posture; regulation of respiratory gaseous exchange; regulation of membrane potential; ion transmembrane transport; adult walking behavior; visual perception; synaptic transmission; neuropeptide signaling pathway; ion transport; regulation of respiratory gaseous exchange by neurological system process; startle response; regulation of action potential; muscle contraction | 5q32 |
| GLRA2 | neuropeptide signaling pathway; ion transport; synapse assembly; ion transmembrane transport; transmembrane transport | Xp22.2 |
| GLRA3 | synaptic transmission; ion transmembrane transport; transmembrane transport | 4q34.1 |
| GLRA4 | ion transport | Xq22.2 |
| GLRB | startle response; righting reflex; synaptic transmission, glycinergic; transmembrane transport; protein heterooligomerization; regulation of membrane potential; ion transmembrane transport; adult walking behavior; visual perception; nervous system development; acrosome reaction; synaptic transmission; neuropeptide signaling pathway; ion transport | 4q31.3 |
| GLRX | nucleobase-containing small molecule interconversion; transport; electron transport chain; small molecule metabolic process; cell redox homeostasis; nucleobase-containing small molecule metabolic process | 5q14 |
| GLRX2 | response to temperature stimulus; response to redox state; cell redox homeostasis; response to hydrogen peroxide; DNA protection; cell differentiation; electron transport chain; response to organic substance; regulation of signal transduction; apoptotic process; transport; glutathione metabolic process; protein thiol-disulfide exchange; regulation of transcription, DNA-dependent | 1q31.2 |
| GLRX3 | regulation of the force of heart contraction; negative regulation of cardiac muscle hypertrophy; cell redox homeostasis | 10q26 |
| GLRX5 | hemopoiesis; cell redox homeostasis | 14q32.13 |
| GLRXP3 | - | 5q34 |
| GLS | regulation of respiratory gaseous exchange by neurological system process; glutamate biosynthetic process; glutamine catabolic process; synaptic transmission; neurotransmitter secretion; behavior; cellular amino acid biosynthetic process; glutamate secretion; cellular nitrogen compound metabolic process; small molecule metabolic process | 2q32-q34 |
| GLS2 | cellular amino acid metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; glutamate secretion; cellular amino acid biosynthetic process; neurotransmitter secretion; synaptic transmission; glutamine metabolic process | 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 | cellular amino acid biosynthetic process; glutamate biosynthetic process; glutamate catabolic process; positive regulation of insulin secretion; 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 | cell proliferation; small molecule metabolic process; cellular nitrogen compound metabolic process; response to glucose stimulus; neurotransmitter uptake; glutamate catabolic process; glutamine biosynthetic process; synaptic transmission; cellular amino acid biosynthetic process | 1q31 |
| GLULP2 | - | 11p15.4 |
| GLULP3 | - | 11q24.1 |
| GLULP4 | - | 9p13.3 |
| GLULP6 | - | 2q32.3 |
| GLYAT | xenobiotic metabolic process; acyl-CoA metabolic process; response to toxin; 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 | neuromuscular process controlling balance; neurological system process; small molecule metabolic process; lipid storage; lipid metabolic process; sphingolipid metabolic process; glycosphingolipid metabolic process; ganglioside catabolic process; learning or memory; sphingolipid catabolic process; glycolipid catabolic process; oligosaccharide catabolic process | 5q33.1 |
| GMCL1 | spermatogenesis; cell differentiation; multicellular organismal development; regulation of transcription, DNA-dependent | 2p13.3 |
| GMDS | Notch signaling pathway; GDP-mannose metabolic process; 'de novo' GDP-L-fucose biosynthetic process; cellular metabolic process | 6p25 |
| GMDS-AS1 | - | - |
| GMEB1 | - | 1p35.3 |
| GMEB2 | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 20q13.33 |
| GMFB | protein phosphorylation; signal transduction; nervous system development; positive regulation of catalytic activity | 14q22.2 |
| GMFBP1 | - | 3q12.2 |
| GMFG | protein phosphorylation; positive regulation of catalytic activity | 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 | cell cycle; DNA replication; cell proliferation | 3q28 |
| GMNN | organ morphogenesis; negative regulation of DNA replication; negative regulation of cell cycle; mitotic cell cycle; M/G1 transition of mitotic cell cycle; negative regulation of transcription, DNA-dependent; protein complex assembly | 6p22.3 |
| GMPPA | dolichol-linked oligosaccharide biosynthetic process; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; GDP-mannose biosynthetic process; biosynthetic process | 2q35 |
| GMPPB | biosynthetic process; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; GDP-mannose biosynthetic process; dolichol-linked oligosaccharide biosynthetic process | 3p21.31 |
| GMPR | purine base metabolic process; nucleobase-containing small molecule metabolic process; small molecule metabolic process; purine-containing compound salvage; response to cold; nucleotide metabolic process | 6p23 |
| GMPR2 | purine base metabolic process; nucleotide metabolic process; purine-containing compound salvage; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 14q12 |
| GMPS | purine nucleotide biosynthetic process; purine base metabolic 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 | platelet activation; blood coagulation; heart development; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein coupled receptor signaling pathway; signal transduction; regulation of melanocyte differentiation; protein ADP-ribosylation; GTP catabolic process; developmental pigmentation; activation of phospholipase C activity by dopamine receptor signaling pathway; regulation of action potential; skeletal system development | 19p13.3 |
| GNA12 | 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; Rho protein signal transduction; blood coagulation; regulation of cell shape; cell differentiation; platelet activation; response to drug; embryonic digit morphogenesis | 7p22.2 |
| GNA13 | patterning of blood vessels; in utero embryonic development; GTP catabolic process; cellular component movement; signal transduction; G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; intracellular protein kinase cascade; activation of phospholipase D activity; regulation of cell migration; platelet activation; cell differentiation; regulation of cell shape; blood coagulation; Rho protein signal transduction | 17q24.3 |
| GNA14 | platelet activation; 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; activation of phospholipase C activity by dopamine receptor signaling pathway | 9q21 |
| GNA15 | signal transduction; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of phospholipase C activity by dopamine receptor signaling pathway; activation of phospholipase C activity; elevation of cytosolic calcium ion concentration; activation of phospholipase C activity by G-protein coupled acetylcholine receptor signaling pathway; blood coagulation; platelet activation; inositol trisphosphate metabolic process; protein ADP-ribosylation; GTP catabolic process | 19p13.3 |
| GNAI1 | cell cycle; signal transduction; G-protein coupled receptor signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; synaptic transmission; blood coagulation; cell division; platelet activation; GTP catabolic process | 7q21 |
| GNAI2 | inhibition of adenylate cyclase activity by G-protein signaling pathway; negative regulation of calcium ion transport via voltage-gated calcium channel activity; cell division; negative regulation of synaptic transmission; platelet activation; positive regulation of cell proliferation; blood coagulation; response to nutrient; synaptic transmission; intracellular protein kinase cascade; gamma-aminobutyric acid signaling pathway; G-protein coupled acetylcholine receptor signaling pathway; negative regulation of adenylate cyclase activity; G-protein coupled receptor signaling pathway; signal transduction; cell cycle; GTP catabolic process; adenosine receptor signaling pathway; activation of MAPKK activity | 3p21.31 |
| GNAI2P1 | - | 12p13.1 |
| GNAI3 | synaptic transmission; G-protein coupled receptor signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; negative regulation of adenylate cyclase activity; blood coagulation; platelet activation; negative regulation of synaptic transmission; cell division; signal transduction; cell cycle; transport; GTP catabolic process; vesicle fusion | 1p13 |
| GNAL | 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; G-protein coupled receptor signaling pathway; signal transduction; GTP catabolic process; response to amphetamine; cAMP biosynthetic process | 18p11.22-p11.21 |
| GNAO1 | locomotory behavior; negative regulation of calcium ion transport; positive regulation of GTPase activity; response to morphine; response to hydrogen peroxide; response to drug; response to cytokine stimulus; neuron projection development; forebrain development; response to organic cyclic compound; response to organic nitrogen; cellular process; regulation of heart contraction; aging; dopamine receptor signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; muscle contraction; GTP catabolic process | 16q13 |
| GNAQ | activation of phospholipase C activity; glutamate receptor signaling pathway; heart development; forebrain neuron development; blood coagulation; behavior; post-embryonic development; neuron remodeling; activation of adenylate cyclase activity by G-protein signaling pathway; G-protein coupled receptor signaling pathway; protein ADP-ribosylation; negative regulation of protein kinase activity; GTP catabolic process; regulation of action potential; skeletal system development; regulation of catenin import into nucleus; embryonic digit morphogenesis; positive regulation of GTPase activity; regulation of melanocyte differentiation; developmental pigmentation; protein stabilization; activation of phospholipase C activity by dopamine receptor signaling pathway; platelet activation | 9q21 |
| GNAQP1 | - | 2q21.1 |
| GNAS | tissue homeostasis; activation of adenylate cyclase activity; G-protein coupled receptor signaling pathway; water transport; DNA methylation; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process; endochondral ossification; embryonic hindlimb morphogenesis; embryonic cranial skeleton morphogenesis; regulation of insulin secretion; cartilage development; transmembrane transport; cellular response to glucagon stimulus; genetic imprinting; post-embryonic development; female pregnancy; activation of adenylate cyclase activity by dopamine receptor signaling pathway; multicellular organism growth; post-embryonic body morphogenesis; response to drug; skin development; small molecule metabolic process; positive regulation of osteoblast differentiation; intracellular transport; protein secretion; behavior; sensory perception of smell; sensory perception of chemical stimulus; blood coagulation; positive regulation of osteoclast differentiation | 20q13.3 |
| GNAS-AS1 | - | 20q13.32 |
| GNAT1 | response to light intensity; eye photoreceptor cell development; response to stimulus; detection of light stimulus involved in visual perception; sensory perception of umami taste; positive regulation of cyclic-nucleotide phosphodiesterase activity; negative regulation of cyclic-nucleotide phosphodiesterase activity; retina development in camera-type eye; cellular response to electrical stimulus; visual perception; rhodopsin mediated phototransduction; response to light stimulus; cell proliferation; phototransduction, visible light; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein coupled receptor signaling pathway; signal transduction; GTP catabolic process; detection of chemical stimulus involved in sensory perception of bitter taste | 3p21 |
| GNAT2 | elevation of cytosolic calcium ion concentration; detection of light stimulus involved in visual perception; response to stimulus; retinal cone cell development; response to light intensity; rhodopsin mediated phototransduction; detection of visible light; visual perception; phototransduction; GTP catabolic process; G-protein coupled receptor signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; detection of chemical stimulus involved in sensory perception of bitter taste | 1p13.1 |
| GNAT3 | G-protein coupled receptor signaling pathway; response to nicotine; G-protein signaling, coupled to cAMP nucleotide second messenger; GTP catabolic process; detection of chemical stimulus involved in sensory perception of bitter taste; sensory perception of umami taste; rhodopsin mediated phototransduction; sensory perception of sweet taste | 7q21.11 |
| GNAZ | GTP catabolic process; G-protein coupled receptor signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; inhibition of adenylate cyclase activity by G-protein signaling pathway | 22q11.22 |
| GNB1 | cellular response to glucagon stimulus; retina development in camera-type eye; sensory perception of taste; small molecule metabolic process; platelet activation; cell proliferation; blood coagulation; synaptic transmission; 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; Ras protein signal transduction | 1p36.33 |
| GNB1L | G-protein coupled receptor signaling pathway; social behavior; intracellular signal transduction | 22q11.2 |
| GNB2 | GTP catabolic process; cellular response to glucagon stimulus; small molecule metabolic process; synaptic transmission; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway; energy reserve metabolic process | 7q22 |
| GNB3 | cellular response to glucagon stimulus; small molecule metabolic process; regulation of blood pressure; G-protein coupled receptor signaling pathway; GTP catabolic process; energy reserve metabolic process; synaptic transmission | 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 | lipopolysaccharide biosynthetic process; cell adhesion; UDP-N-acetylglucosamine metabolic process; carbohydrate metabolic process; N-acetylneuraminate metabolic process | 9p13.3 |
| GNG10 | energy reserve metabolic process; GTP catabolic process; signal transduction; G-protein coupled receptor signaling pathway; synaptic transmission; small molecule metabolic process; cellular response to glucagon stimulus | 9q31.3 |
| GNG11 | GTP catabolic process; signal transduction; G-protein coupled receptor signaling pathway; small molecule metabolic process; cellular response to glucagon stimulus; energy reserve metabolic process | 7q21 |
| GNG12 | synaptic transmission; energy reserve metabolic process; signal transduction; G-protein coupled receptor signaling pathway; response to lipopolysaccharide; small molecule metabolic process; cellular response to glucagon stimulus; cerebral cortex development | 1p31.3 |
| GNG12-AS1 | - | 1p31.3 |
| GNG13 | energy reserve metabolic process; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; cellular response to glucagon stimulus; small molecule metabolic process; sensory perception of taste | 16p13.3 |
| GNG2 | synaptic transmission; cellular response to glucagon stimulus; small molecule metabolic process; energy reserve metabolic process; G-protein coupled receptor signaling pathway; platelet activation; cell proliferation; blood coagulation | 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 | cellular response to glucagon stimulus; energy reserve metabolic process; synaptic transmission; regulation of G-protein coupled receptor protein signaling pathway; negative regulation of cell growth; small molecule metabolic process | 1q42.3 |
| GNG5 | energy reserve metabolic process; GTP catabolic process; signal transduction; G-protein coupled receptor signaling pathway; synaptic transmission; small molecule metabolic process; cellular response to glucagon stimulus | 1p22 |
| GNG5P2 | - | Xq23 |
| GNG5P3 | - | 11q23.1 |
| GNG5P5 | - | 13q14.2 |
| GNG7 | cellular response to glucagon stimulus; behavioral fear response; energy reserve metabolic process; receptor guanylyl cyclase signaling pathway; synaptic transmission; locomotory behavior; regulation of G-protein coupled receptor protein signaling pathway; small molecule metabolic process; regulation of adenylate cyclase activity | 19p13.3 |
| GNGT1 | cellular response to hypoxia; eye photoreceptor cell development; G-protein coupled receptor signaling pathway; cardiac muscle cell apoptosis; protein localization; synaptic transmission; signal transduction; GTP catabolic process; phototransduction | 7q21.3 |
| GNGT2 | GTP catabolic process; G-protein coupled receptor signaling pathway; synaptic transmission; phototransduction | 17q21 |
| GNL1 | T cell mediated immunity; response to DNA damage stimulus; signal transduction | 6p21.3 |
| GNL2 | GTP catabolic process; ribosome biogenesis | 1p34.3 |
| GNL3 | regulation of cell proliferation | 3p21.1 |
| GNL3L | ribosome biogenesis | Xp11.22 |
| GNL3LP1 | - | 5q12.1 |
| GNLY | defense response to fungus; defense response to bacterium; killing of cells of other organism; cellular defense response | 2p11.2 |
| GNMT | regulation of gluconeogenesis; protein homotetramerization; S-adenosylmethionine metabolic process; S-adenosylhomocysteine metabolic process; methionine metabolic process; protein modification process; glycogen metabolic process | 6p12 |
| GNPAT | metabolic process; paranodal junction assembly; ether lipid biosynthetic process; phospholipid biosynthetic process; cellular membrane organization; cerebellum morphogenesis; response to drug; myelination; response to starvation; cellular lipid metabolic process; small molecule metabolic process; response to fatty acid; synapse assembly; response to nutrient | 1q42 |
| GNPATP | - | 16q21 |
| GNPDA1 | glucosamine catabolic process; carbohydrate metabolic process; single fertilization; N-acetylglucosamine metabolic process; generation of precursor metabolites and energy | 5q21 |
| GNPDA2 | N-acetylglucosamine metabolic process; carbohydrate metabolic process | 4p12 |
| GNPNAT1 | UDP-N-acetylglucosamine biosynthetic process; post-translational protein modification; protein N-linked glycosylation via asparagine; cellular protein metabolic process; liver development; dolichol-linked oligosaccharide biosynthetic process; N-acetylglucosamine metabolic process | 14q22.1 |
| GNPTAB | protein secretion; cell differentiation; carbohydrate phosphorylation | 12q23.2 |
| GNPTG | - | 16p13.3 |
| GNRH1 | female pregnancy; response to ethanol; ovulation cycle; response to corticosteroid stimulus; regulation of gene expression; negative regulation of cell proliferation; multicellular organismal development; cell-cell signaling; signal transduction; anti-apoptosis | 8p21-p11.2 |
| GNRH2 | signal transduction; multicellular organismal development | 20p13 |
| GNRHR | G-protein coupled receptor signaling pathway; multicellular organismal development; negative regulation of cell proliferation; cellular response to gonadotropin-releasing hormone | 4q21.2 |
| GNRHR2 | - | 1q12 |
| GNRHR2P1 | - | 14q23.1 |
| GNS | glycosaminoglycan catabolic process; keratan sulfate catabolic process | 12q14 |
| GOLGA1 | protein targeting to Golgi | 9q33.3 |
| GOLGA2 | Golgi localization; positive regulation of axonogenesis | 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 | protein targeting to Golgi; vesicle-mediated transport; Golgi to plasma membrane protein transport | 3p22-p21.3 |
| GOLGA5 | retrograde transport, vesicle recycling within Golgi; Golgi vesicle transport; Golgi organization | 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 | protein transport; signal transduction; vesicle-mediated transport; positive regulation of I-kappaB kinase/NF-kappaB cascade | 12p12.1 |
| GON4L | regulation of transcription, DNA-dependent | 1q22 |
| GOPC | ER to Golgi vesicle-mediated transport; Golgi to plasma membrane transport; spermatid nucleus differentiation; protein transport; cytoplasmic sequestering of CFTR protein; apical protein localization; regulation of catalytic activity; protein homooligomerization | 6q21 |
| GORAB | - | 1q24.2 |
| GORASP1 | mitotic cell cycle; protein transport; M phase of mitotic cell cycle; mitotic prophase; Golgi organization | 3p22-p21.33 |
| GORASP2 | organelle organization; Golgi organization | 2q31.1 |
| GOSR1 | protein transport; ER to Golgi vesicle-mediated transport; vesicle-mediated transport; retrograde transport, endosome to Golgi; intra-Golgi vesicle-mediated transport | 17q11 |
| GOSR2 | protein transport; activation of signaling protein activity involved in unfolded protein response; cellular membrane fusion; ER to Golgi vesicle-mediated transport; endoplasmic reticulum unfolded protein response | 17q21 |
| GOT1 | polyamine metabolic process; glutamate metabolic process; cellular amino acid biosynthetic process; biosynthetic process; L-methionine salvage from methylthioadenosine; glutamate catabolic process to aspartate; glutamate catabolic process to 2-oxoglutarate; cellular response to insulin stimulus; cellular nitrogen compound metabolic process; small molecule metabolic process; response to glucocorticoid stimulus; fatty acid homeostasis; aspartate catabolic process; sulfur amino acid metabolic process; carbohydrate metabolic process; glucose metabolic process; gluconeogenesis; 2-oxoglutarate metabolic process; oxaloacetate metabolic process; glycerol biosynthetic process; aspartate metabolic process; aspartate biosynthetic process | 10q24.1-q25.1 |
| GOT1L1 | cellular amino acid metabolic process; biosynthetic process | 8p11.23 |
| GOT2 | cellular nitrogen compound metabolic process; response to ethanol; small molecule metabolic process; glutamate catabolic process to 2-oxoglutarate; glutamate catabolic process to aspartate; fatty acid transport; biosynthetic process; cellular amino acid biosynthetic process; transport; glutamate metabolic process; aspartate biosynthetic process; aspartate metabolic process; oxaloacetate metabolic process; 2-oxoglutarate metabolic process; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process; aspartate catabolic process | 16q21 |
| GOT2P1 | - | 1p32.3 |
| GOT2P2 | - | 1q25.1 |
| GOT2P3 | - | 12p13.31 |
| GOT2P4 | - | 12p12.3 |
| GOT2P5 | - | - |
| GP1BA | blood coagulation; thrombin receptor signaling pathway; fibrinolysis; regulation of blood coagulation; platelet activation; blood coagulation, intrinsic pathway; cell surface receptor signaling pathway; cell adhesion | 17pter-p12 |
| GP1BB | cell adhesion; cell surface receptor signaling pathway; blood coagulation; blood coagulation, intrinsic pathway; platelet activation | 22q11.21 |
| GP2 | - | 16p12 |
| GP5 | negative regulation of platelet activation; platelet activation; blood coagulation, intrinsic pathway; blood coagulation; cell adhesion; cell-matrix adhesion | 3q29 |
| GP6 | enzyme linked receptor protein signaling pathway; blood coagulation; platelet activation; leukocyte migration | 19q13.4 |
| GPA33 | - | 1q24.1 |
| GPAA1 | cellular protein metabolic process; post-translational protein modification; attachment of GPI anchor to protein; protein retention in ER lumen; C-terminal protein lipidation; protein complex assembly | 8q24.3 |
| GPALPP1 | - | 13q13-q14 |
| GPAM | metabolic process; negative regulation of activation-induced cell death of T cells; glycerophospholipid metabolic process; acyl-CoA metabolic process; fatty acid metabolic process; interleukin-2 secretion; cellular lipid metabolic process; defense response to virus; fatty acid homeostasis; phospholipid homeostasis; response to activity; regulation of cytokine secretion; positive regulation of multicellular organism growth; response to fructose stimulus; response to glucose stimulus; phospholipid biosynthetic process; positive regulation of activated T cell proliferation; response to nutrient levels; positive regulation of triglyceride biosynthetic process; response to cadmium ion; triglyceride biosynthetic process; small molecule metabolic process; cellular response to insulin stimulus | 10q25.2 |
| GPANK1 | - | 6p21.3 |
| GPAT2 | phospholipid biosynthetic process; triglyceride biosynthetic process; glycerol-3-phosphate metabolic process; metabolic process | 2q11.1 |
| GPAT3 | phospholipid biosynthetic process; regulation of TOR signaling cascade; triglyceride biosynthetic process; metabolic process | 4q21.23 |
| GPAT4 | triglyceride biosynthetic process; phosphatidylcholine biosynthetic process; lactation; lipid biosynthetic process; phospholipid biosynthetic process; regulation of multicellular organism growth; acyl-CoA metabolic process; fatty acid metabolic process; glandular epithelial cell maturation; cellular lipid metabolic process; small molecule metabolic process; diacylglycerol metabolic process | 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 | cell proliferation; anatomical structure morphogenesis | Xq26.1 |
| GPC5 | - | 13q32 |
| GPC5-IT1 | - | - |
| GPC6 | - | 13q32 |
| GPCPD1 | lipid metabolic process; glycerol metabolic process | 20p12.3 |
| GPD1 | gluconeogenesis; glycerolipid metabolic process; glycerol-3-phosphate catabolic process; small molecule metabolic process; cellular lipid metabolic process; triglyceride biosynthetic process; NADH oxidation; 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 | vitamin metabolic process; water-soluble vitamin metabolic process; Mo-molybdopterin cofactor biosynthetic process; molybdopterin cofactor biosynthetic process; small molecule metabolic process | 14q23.3 |
| GPI | angiogenesis; small molecule metabolic process; glycolysis; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process; humoral immune response; hemostasis | 19q13.1 |
| GPIHBP1 | protein stabilization; lipid transport; intracellular protein transport; protein import; protein localization at cell surface; cholesterol homeostasis; transcytosis; positive regulation of lipoprotein lipase activity; triglyceride homeostasis; response to heparin; positive regulation of chylomicron remnant clearance | 8q24.3 |
| GPKOW | - | Xp11.23 |
| GPLD1 | positive regulation of apoptotic process; hematopoietic stem cell migration; 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; positive regulation of endothelial cell migration; 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 insulin secretion involved in cellular response to glucose stimulus; positive regulation of alkaline phosphatase activity; positive regulation of triglyceride biosynthetic p | 6p22.1 |
| GPM6A | - | 4q34 |
| GPM6B | cell differentiation; nervous system development; multicellular organismal development | Xp22.2 |
| GPM6BP3 | - | - |
| GPN1 | - | 2p23.3 |
| GPN2 | - | 1p36.11 |
| GPN3 | - | 12q24.11 |
| GPNMB | cell adhesion; negative regulation of cell proliferation | 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 | cellular calcium ion homeostasis; G-protein coupled receptor signaling pathway | 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; melanosome transport; melanosome organization; regulation of calcium-mediated signaling; phosphatidylinositol-mediated signaling; calcium-mediated signaling using intracellular calcium source | Xp22.3 |
| GPR143P | - | Yp11.2 |
| GPR144 | neuropeptide signaling pathway; G-protein coupled receptor 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 | intracellular signal transduction; transmembrane transport | 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 | immune response; G-protein coupled receptor signaling pathway; mature B cell differentiation involved in immune response; humoral 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 | regulation of meiosis; activation of adenylate cyclase activity by G-protein signaling pathway | 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 | G-protein coupled receptor signaling pathway; negative regulation of osteoclast differentiation; bone resorption; positive regulation of Rho protein signal transduction; activation of phospholipase C activity; positive regulation of ERK1 and ERK2 cascade | 2q37 |
| GPR61 | - | 1p13.3 |
| GPR63 | - | 6q16.1-q16.3 |
| GPR65 | immune response; G-protein coupled receptor signaling pathway; multicellular organismal development; response to acidity; positive regulation of cAMP biosynthetic process; actin cytoskeleton reorganization; activation of Rho GTPase activity; positive regulation of stress fiber assembly; apoptotic process | 14q31-q32.1 |
| GPR68 | inflammatory response; G-protein coupled receptor signaling pathway | 14q31 |
| GPR75 | G-protein coupled receptor signaling pathway | 2p16 |
| GPR79 | - | 3q25.32 |
| GPR83 | response to glucocorticoid stimulus; G-protein coupled receptor signaling pathway | 11q21 |
| GPR84 | - | 12q13.13 |
| GPR85 | signal transduction; G-protein coupled receptor signaling pathway | 7q31 |
| GPR87 | - | 3q24 |
| GPR88 | G-protein coupled receptor signaling pathway | 1p21.3 |
| GPR89A | positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of anion transport; protein transport; signal transduction; ion transport; intracellular pH reduction | 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 | cullin deneddylation; JNK cascade; cell cycle; inactivation of MAPK activity | 17q25.3 |
| GPS2 | negative regulation of JNK cascade; JNK cascade; cell cycle; inactivation of MAPK activity; negative regulation of transcription from RNA polymerase II promoter | 17p13 |
| GPSM1 | cell differentiation; signal transduction; regulation of G-protein coupled receptor protein signaling pathway; multicellular organismal development; nervous system development | 9q34.3 |
| GPSM2 | establishment of mitotic spindle orientation; signal transduction; G-protein coupled receptor signaling pathway; regulation of G-protein coupled receptor protein signaling pathway; lung epithelial cell differentiation | 1p13.3 |
| GPSM3 | regulation of G-protein coupled receptor protein signaling pathway; signal transduction | 6p21.3 |
| GPT | cellular nitrogen compound metabolic process; cellular amino acid biosynthetic process; gluconeogenesis; small molecule metabolic process; nitrogen compound metabolic process; biosynthetic process | 8q24.3 |
| GPT2 | small molecule metabolic process; biosynthetic process; L-alanine metabolic process; cellular nitrogen compound metabolic process; 2-oxoglutarate metabolic process; cellular amino acid biosynthetic process | 16q12.1 |
| GPX1 | small molecule metabolic process; heart contraction; regulation of proteasomal protein catabolic process; response to hydrogen peroxide; cell redox homeostasis; response to selenium ion; purine nucleotide catabolic process; hydrogen peroxide catabolic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; nucleobase-containing small molecule metabolic process; glutathione metabolic process; anti-apoptosis; UV protection; release of cytochrome c from mitochondria; negative regulation of endopeptidase activity; response to oxidative stress; purine base metabolic process; regulation of mammary gland epithelial cell proliferation; regulation of gene expression, epigenetic | 3p21.3 |
| GPX1P1 | - | Xp22.2 |
| GPX1P2 | - | 21q21.3 |
| GPX2 | response to oxidative stress | 14q24.1 |
| GPX3 | response to drug; response to molecule of fungal origin; glutathione metabolic process; response to oxidative stress; female pregnancy; response to selenium ion; response to organic cyclic compound; hydrogen peroxide catabolic process; response to corticosterone stimulus; response to lipid hydroperoxide; protein homotetramerization; oxidation-reduction process | 5q23 |
| GPX4 | oxidation-reduction process; multicellular organismal development; response to oxidative stress; phospholipid metabolic process | 19p13.3 |
| GPX5 | response to oxidative stress; lipid metabolic process | 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 | cell-cell signaling; Ras protein signal transduction | 17p11.2 |
| GRAP2 | Ras protein signal transduction; T cell receptor signaling pathway; T cell costimulation; cell-cell signaling | 22q13.2 |
| GRAPL | - | 17p11.2 |
| GRASP | protein localization; signal transduction | 12q13.13 |
| GRB10 | negative regulation of Wnt receptor signaling pathway; response to insulin stimulus; insulin receptor signaling pathway; negative regulation of phosphorylation; positive regulation of vascular endothelial growth factor receptor signaling pathway; signal transduction; negative regulation of glucose import; insulin-like growth factor receptor signaling pathway; positive regulation of phosphorylation; negative regulation of glycogen biosynthetic process; negative regulation of insulin receptor signaling pathway | 7p12.2 |
| GRB14 | intracellular signal transduction; leukocyte migration; signal transduction; negative regulation of insulin receptor signaling pathway; blood coagulation | 2q22-q24 |
| GRB2 | cell differentiation; fibroblast growth factor receptor signaling pathway; cell-cell signaling; platelet activation; epidermal growth factor receptor signaling pathway; T cell costimulation; receptor internalization; Ras protein signal transduction; negative regulation of epidermal growth factor receptor signaling pathway; signal transduction in response to DNA damage; regulation of MAPK cascade; interspecies interaction between organisms; axon guidance; nerve growth factor receptor signaling pathway; anatomical structure formation involved in morphogenesis; aging; leukocyte migration; protein heterooligomerization; blood coagulation; branching involved in embryonic placenta morphogenesis; cellular response to ionizing radiation; insulin receptor signaling pathway; positive regulation of reactive oxygen species metabolic process | 17q24-q25 |
| GRB7 | signal transduction; epidermal growth factor receptor signaling pathway; blood coagulation; negative regulation of translation; positive regulation of cell migration; stress granule assembly; leukocyte migration | 17q12 |
| GREB1 | - | 2p25.1 |
| GREB1L | - | 18q11.2 |
| GREM1 | negative regulation of leukocyte chemotaxis; negative regulation of BMP signaling pathway; positive regulation of NF-kappaB import into nucleus; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of NF-kappaB transcription factor activity; ureteric bud formation; positive regulation of branching involved in ureteric bud morphogenesis; embryonic limb morphogenesis; negative regulation of cell growth; regulation of epithelial to mesenchymal transition; proximal/distal pattern formation; organ morphogenesis; nervous system development; multicellular organismal development; cell-cell signaling; apoptotic process; mesenchymal to epithelial transition involved in metanephros morphogenesis; angiogenesis | 15q13.3 |
| GREM2 | BMP signaling pathway | 1q43 |
| GRHL1 | multicellular organismal development; small molecule metabolic process; cellular lipid metabolic process; regulation of transcription, DNA-dependent | 2p25.1 |
| GRHL2 | - | 8q22.3 |
| GRHL3 | pattern specification process; positive regulation of transcription from RNA polymerase II promoter; cochlea morphogenesis; wound healing; regulation of actin cytoskeleton organization; planar cell polarity pathway involved in neural tube closure; positive regulation of Rho GTPase activity; epidermis development; central nervous system development; ectoderm development; establishment of planar polarity | 1p36.11 |
| GRHPR | oxidation-reduction process; excretion; metabolic process; cellular nitrogen compound metabolic process; glyoxylate metabolic process; small molecule metabolic process | 9q12 |
| GRIA1 | ion transport; signal transduction; synaptic transmission; long-term memory; receptor internalization | 5q31.1 |
| GRIA2 | ion transport; signal transduction; synaptic transmission | 4q32.1 |
| GRIA3 | regulation of receptor recycling; transport; ion transport; glutamate receptor signaling pathway; synaptic transmission; response to lithium ion; response to fungicide | Xq25 |
| GRIA4 | transport; ion transport; glutamate receptor signaling pathway; synaptic transmission; regulation of synaptic transmission; positive regulation of synaptic transmission, glutamatergic; response to fungicide | 11q22 |
| GRID1 | ion transport | 10q22 |
| GRID2 | transport; ion transport; glutamate receptor signaling pathway; synaptic transmission, glutamatergic; regulation of neuron apoptosis; regulation of excitatory postsynaptic membrane potential; prepulse inhibition | 4q22 |
| GRID2IP | long term synaptic depression; actin cytoskeleton organization; cellular component organization | 7p22.1 |
| GRIK1 | regulation of excitatory postsynaptic membrane potential; ion transport; signal transduction; glutamate receptor signaling pathway; 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; negative regulation of synaptic transmission, glutamatergic; transport; regulation of inhibitory postsynaptic membrane potential | 21q22.11 |
| GRIK2 | behavioral fear response; transport; ion transport; cellular calcium ion homeostasis; intracellular protein transport; signal transduction; glutamate receptor signaling pathway; synaptic transmission; regulation of action potential in neuron; induction of programmed cell death in response to chemical stimulus; regulation of membrane potential; receptor clustering; negative regulation of neuron apoptosis; regulation of JNK cascade; regulation of long-term neuronal synaptic plasticity; regulation of short-term neuronal synaptic plasticity; regulation of synaptic transmission; positive regulation of synaptic transmission; neuron apoptosis; negative regulation of synaptic transmission, glutamatergic; regulation of excitatory postsynaptic membrane potential; regulation of inhibitory postsynaptic membrane potential | 6q16.3 |
| GRIK3 | ion transport; inhibition of adenylate cyclase activity by G-protein coupled glutamate receptor signaling pathway; 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 | 1p34.3 |
| GRIK4 | transport; ion transport; glutamate receptor signaling pathway; synaptic transmission; response to corticosteroid stimulus | 11q22.3 |
| GRIK5 | protein retention in ER lumen; ion transport; synaptic transmission; receptor clustering; neuroprotection; establishment of localization in cell; cellular response to glucose stimulus | 19q13.2 |
| GRIN1 | ion transport; cation transport; synaptic transmission; visual learning; ionotropic glutamate receptor signaling pathway; regulation of membrane potential; response to ethanol; positive regulation of transcription from RNA polymerase II promoter; calcium ion homeostasis; regulation of excitatory postsynaptic membrane potential; calcium ion transmembrane transport | 9q34.3 |
| GRIN2A | response to carbohydrate stimulus; response to drug; serotonin metabolic process; dopamine metabolic process; response to cocaine; negative regulation of protein catabolic process; directional locomotion; sleep; neurogenesis; cerebral cortex development; hippocampus development; spinal cord development; response to organic cyclic compound; positive regulation of cell death; cellular response to manganese ion; positive regulation of apoptotic process; response to ethanol; regulation of synaptic plasticity; regulation of long-term neuronal synaptic plasticity; rhythmic process; response to calcium ion; response to methylmercury; response to other organism; regulation of sensory perception of pain; regulation of excitatory postsynaptic membrane potential; response to ammonium ion; response to fungicide; cellular response to amino acid stimulus; cellular response to magnesium ion; response to light stimulus; cellular response to lipid; cellular response to growth factor stimulus; cellular response to dsRNA; cellu | 16p13.2 |
| GRIN2B | response to mechanical stimulus; response to fungicide; response to carbohydrate stimulus; cellular response to magnesium starvation; positive regulation of cell death; positive regulation of glutamate secretion; hippocampus development; cerebral cortex development; response to magnesium ion; multicellular organismal response to stress; response to cytokine stimulus; response to cocaine; receptor clustering; regulation of MAPK cascade; response to ethanol; regulation of long-term neuronal synaptic plasticity; rhythmic process; positive regulation of synaptic transmission; response to calcium ion; response to methylmercury; response to electrical stimulus; response to other organism; response to growth hormone stimulus; long-term memory; cellular response to organic cyclic compound; cellular response to lipid; cellular response to growth factor stimulus; cellular response to dsRNA; cellular response to manganese ion; cellular response to amino acid stimulus; response to acid; regulation of action potential; re | 12p12 |
| GRIN2C | transport; ion transport; cation transport; signal transduction; glutamate receptor signaling pathway; synaptic transmission; protein localization; response to wounding; directional locomotion; 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; adult locomotory behavior; synaptic transmission, glutamatergic; regulation of sensory perception of pain | 19q13.33 |
| GRIN3A | prepulse inhibition; rhythmic process; response to ethanol; dendrite development; ion transport; calcium ion transport; signal transduction | 9q31.1 |
| GRINA | - | 8q24.3 |
| GRIP1 | positive regulation of transcription, DNA-dependent; intracellular signal transduction; androgen receptor signaling pathway; synaptic transmission | 12q14.3 |
| GRIP2 | synaptic transmission | 3p24-p23 |
| GRIPAP1 | - | Xp11 |
| GRK4 | receptor internalization; termination of G-protein coupled receptor signaling pathway; regulation of G-protein coupled receptor protein signaling pathway; signal transduction; G-protein coupled receptor internalization | 4p16.3 |
| GRK5 | 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; response to drug; negative regulation of apoptotic process; protein autophosphorylation | 10q26.11 |
| GRK6 | signal transduction; termination of G-protein coupled receptor signaling pathway; Wnt receptor signaling pathway; regulation of G-protein coupled receptor protein signaling pathway | 5q35 |
| GRK6P1 | - | 13q12.11 |
| GRM1 | activation of MAPKK activity; regulation of MAPK cascade; calcium-mediated signaling; locomotory behavior; synaptic transmission; G-protein coupled receptor signaling pathway; activation of MAPK activity; regulation of sensory perception of pain; regulation of synaptic transmission, glutamatergic; cellular response to electrical stimulus | 6q24 |
| GRM2 | synaptic transmission; 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; glutamate secretion | 3p21.2 |
| GRM4 | activation of MAPK activity; G-protein coupled receptor signaling pathway; inhibition of adenylate cyclase activity by G-protein coupled glutamate receptor signaling pathway; synaptic transmission; neurotransmitter secretion; positive regulation of MAPK cascade; neuroprotection | 6p21.3 |
| GRM5 | activation of MAPKKK activity; 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; positive regulation of long-term neuronal synaptic plasticity | 11q14.3 |
| GRM6 | G-protein coupled glutamate receptor signaling pathway; synaptic transmission; visual perception; locomotory behavior; detection of visible light; response to stimulus; retina development in camera-type eye | 5q35 |
| GRM7 | conditioned taste aversion; behavioral fear response; negative regulation of adenylate cyclase activity; response to stimulus; synaptic transmission; calcium ion transmembrane transport; sensory perception of sound; sensory perception of smell; short-term memory; negative regulation of glutamate secretion; adult behavior; negative regulation of cAMP biosynthetic process; multicellular organismal response to stress | 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 | positive regulation of epithelial cell proliferation; embryo implantation; signal transduction; blastocyst hatching | 17q21.32 |
| GRPEL1 | protein folding; protein import into mitochondrial matrix | 4p16 |
| GRPEL2 | protein folding | 5q32 |
| GRPEL2P2 | - | Xq11.2 |
| GRPR | learning or memory; cell proliferation; social behavior; regulation of cell proliferation; G-protein coupled receptor signaling pathway | Xp22.2 |
| GRSF1 | mRNA polyadenylation; anterior/posterior pattern specification; morphogenesis of embryonic epithelium | 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 | ear development; negative regulation of transcription from RNA polymerase II promoter; multicellular organismal development; gastrulation; anatomical structure morphogenesis; dorsal/ventral neural tube patterning; signal transduction involved in regulation of gene expression; embryonic skeletal system morphogenesis; muscle organ morphogenesis; middle ear morphogenesis; forebrain development; negative regulation of Wnt receptor signaling pathway | 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 | regulation of spindle checkpoint; protein phosphorylation; cell cycle; mitotic sister chromatid cohesion; intracellular protein kinase cascade; chromatin modification; protein localization to chromosome, centromeric region; histone H3-T3 phosphorylation | 17p13 |
| GSK3A | negative regulation of insulin receptor signaling pathway; negative regulation of glucose import; positive regulation of transcription from RNA polymerase II promoter; positive regulation of heart contraction; positive regulation of protein catabolic process; negative regulation of glycogen biosynthetic process; hypermethylation of CpG island; nerve growth factor receptor signaling pathway; negative regulation of transferase activity; phosphatidylinositol-mediated signaling; positive regulation of peptidyl-serine phosphorylation; cellular response to insulin stimulus; negative regulation of TOR signaling cascade; endoplasmic reticulum unfolded protein response; positive regulation of cAMP biosynthetic process; cell migration; Wnt receptor signaling pathway; negative regulation of UDP-glucose catabolic process; positive regulation of peptidyl-threonine phosphorylation; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; nervous system development; epidermal growth factor re | 19q13.2 |
| GSK3B | positive regulation of protein complex assembly; cell differentiation; negative regulation of protein binding; positive regulation of Rac GTPase activity; regulation of microtubule-based process; intracellular signal transduction; negative regulation of apoptotic process; 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; negative regulation of protein complex assembly; epithelial to mesenchymal transition; positive regulation of cell-matrix adhesion; carbohydrate metabolic process; glycogen metabolic pro | 3q13.3 |
| GSKIP | - | 14q32.2 |
| GSN | phosphatidylinositol-mediated signaling; response to ethanol; tissue regeneration; regulation of cell adhesion; actin filament polymerization; cell projection organization; vesicle-mediated transport; oligodendrocyte development; actin filament severing; barbed-end actin filament capping; response to folic acid; aging; cellular component disassembly involved in apoptosis; apoptotic process; cilium morphogenesis; actin polymerization or depolymerization; 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 | mRNA metabolic process; cellular protein metabolic process; RNA metabolic process; gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; cell cycle; translational termination; translation | 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 | cellular amino acid metabolic process; glutathione biosynthetic process; xenobiotic metabolic process; nervous system development; response to oxidative stress; aging; response to xenobiotic stimulus; response to nutrient levels; response to cadmium ion; small molecule metabolic process; response to amino acid stimulus; response to tumor necrosis factor | 20q11.2 |
| GSTA1 | metabolic process; small molecule metabolic process; xenobiotic metabolic process; glutathione metabolic process | 6p12.1 |
| GSTA2 | glutathione metabolic process; xenobiotic metabolic process; small molecule metabolic process | 6p12.1 |
| GSTA3 | small molecule metabolic process; metabolic process; xenobiotic metabolic process; glutathione metabolic process | 6p12.1 |
| GSTA4 | small molecule metabolic process; metabolic process; xenobiotic metabolic process; glutathione metabolic process | 6p12.1 |
| GSTA5 | small molecule metabolic process; xenobiotic metabolic process; glutathione 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; metabolic process; establishment of blood-nerve barrier | 1p13.3 |
| GSTM3P2 | - | - |
| GSTM4 | xenobiotic metabolic process; metabolic process; nitrobenzene metabolic process; xenobiotic catabolic process; small molecule metabolic process | 1p13.3 |
| GSTM5 | xenobiotic metabolic process; metabolic process; small molecule metabolic process | 1p13.3 |
| GSTM5P1 | - | 3p25.2 |
| GSTO1 | cellular response to arsenic-containing substance; oxidation-reduction process; small molecule metabolic process; xenobiotic catabolic process; L-ascorbic acid biosynthetic process; L-ascorbic acid metabolic process; metabolic process; xenobiotic metabolic process | 10q25.1 |
| GSTO2 | water-soluble vitamin metabolic process; vitamin metabolic process; xenobiotic metabolic process; metabolic process; L-ascorbic acid metabolic process; oxidation-reduction process; cellular response to arsenic-containing substance; small molecule metabolic process | 10q25.1 |
| GSTP1 | response to toxin; response to reactive oxygen species; negative regulation of acute inflammatory response; negative regulation of protein kinase activity; negative regulation of nitric-oxide synthase biosynthetic process; 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 MAPK cascade; negative regulation of JUN kinase activity; small molecule metabolic process; response to ethanol; negative regulation of fibroblast proliferation; xenobiotic metabolic process; negative regulation of necrotic cell death; regulation of ERK1 and ERK2 cascade; negative regulation of ERK1 and ERK2 cascade; 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 prote | 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 | spinal cord association neuron differentiation; neuron fate commitment; positive regulation of transcription from RNA polymerase II promoter; adenohypophysis development; hypothalamus development; multicellular organismal development | 13q12.2 |
| GSX2 | multicellular organismal development | 4q12 |
| GTDC1 | biosynthetic process | 2q22.3 |
| GTF2A1 | transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 14q31.1 |
| GTF2A2 | 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; 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 | 15q22.2 |
| GTF2B | viral reproduction; 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; interspecies interaction between organisms | 1p22-p21 |
| GTF2E1 | viral reproduction; 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; interspecies interaction between organisms | 3q21-q24 |
| GTF2E2 | transcription initiation from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; viral reproduction; gene expression; transcription elongation from RNA polymerase II promoter | 8p12 |
| GTF2F1 | RNA splicing; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; mRNA capping; positive regulation of viral transcription; positive regulation of transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; viral reproduction; gene expression; response to virus | 19p13.3 |
| GTF2F2 | positive regulation of transcription from RNA polymerase II promoter; gene expression; viral reproduction; RNA splicing; 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; nuclear mRNA splicing, via spliceosome; positive regulation of viral transcription | 13q14 |
| GTF2H1 | termination of RNA polymerase I transcription; regulation of cyclin-dependent protein kinase activity; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; regulation of transcription, DNA-dependent; transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription elongation from RNA polymerase I promoter; 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; protein phosphorylation; positive regulation of viral transcription; positive regulation of transcription from RNA polymerase II promoter; viral reproduction; gene expression | 11p15.1-p14 |
| GTF2H2 | regulation of transcription, DNA-dependent; positive regulation of viral transcription; viral reproduction; transcription initiation from RNA polymerase II promoter; gene expression; response to UV; 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; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; G-protein coupled receptor internalization; nucleotide-excision repair, DNA damage removal; protein phosphorylation; translation; mRNA capping; transcription elongation from RNA polymerase II promoter | 5q13.2 |
| GTF2H2B | - | 5q13.2 |
| GTF2H2D | regulation of transcription, DNA-dependent; DNA repair | 5q13.2 |
| GTF2H3 | nucleotide-excision repair, DNA damage removal; DNA repair; mRNA capping; translation; protein phosphorylation; gene expression; viral reproduction; positive regulation of viral transcription; 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; transcription elongation from RNA polymerase II promoter | 12q24.31 |
| GTF2H4 | transcription elongation from RNA polymerase II promoter; viral reproduction; nucleotide-excision repair, DNA damage removal; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; regulation of 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; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; mRNA capping; protein phosphorylation; gene expression; positive regulation of viral transcription | 6p21.3 |
| GTF2H5 | nucleotide-excision repair; regulation of transcription, DNA-dependent | 6q25.3 |
| GTF2I | signal transduction; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; embryo development; negative regulation of angiogenesis | 7q11.23 |
| GTF2IP1 | - | 7q11.23 |
| GTF2IP3 | - | 13q12.11 |
| GTF2IP4 | - | 7q11.23 |
| GTF2IRD1 | regulation of transcription, DNA-dependent; multicellular organismal development; embryo development | 7q11.23 |
| GTF2IRD1P1 | - | 7q11.21 |
| GTF2IRD2 | regulation of transcription, DNA-dependent | 7q11.23 |
| GTF2IRD2B | regulation of transcription, DNA-dependent | 7q11.23 |
| GTF3A | transcription from RNA polymerase III promoter; rRNA transcription; regulation of transcription, DNA-dependent; gene expression | 13q12.3-q13.1 |
| GTF3C1 | transcription, DNA-dependent; tRNA transcription from RNA polymerase III promoter; 5S class rRNA transcription from RNA polymerase III type 1 promoter; gene expression; tRNA transcription; rRNA transcription; transcription from RNA polymerase III promoter | 16p12 |
| GTF3C2 | tRNA transcription from RNA polymerase III promoter; 5S class rRNA transcription from RNA polymerase III type 1 promoter; gene expression; transcription from RNA polymerase III promoter; transcription, DNA-dependent | 2p23.3 |
| GTF3C2-AS1 | - | 2p23.3 |
| GTF3C3 | 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 | 2q33.1 |
| GTF3C4 | tRNA transcription from RNA polymerase III promoter; positive regulation of catalytic activity; 5S class rRNA transcription from RNA polymerase III type 1 promoter; histone acetylation; gene expression; transcription initiation from RNA polymerase III promoter; transcription from RNA polymerase III promoter; transcription, DNA-dependent | 9q34.13 |
| GTF3C5 | 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 | 9q34 |
| GTF3C6 | 5S class rRNA transcription from RNA polymerase III type 1 promoter; tRNA transcription from RNA polymerase III promoter; transcription from RNA polymerase III 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 | negative regulation of DNA replication; protein stabilization; ribosome biogenesis; negative regulation of collagen binding; regulation of cyclin-dependent protein kinase activity; negative regulation of protein ubiquitination; negative regulation of cell migration; negative regulation of cell-cell adhesion; negative regulation of cell proliferation; GTP catabolic process | 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; visual perception; signal transduction | 6p21.1 |
| GUCA1B | regulation of guanylate cyclase activity; visual perception; body fluid secretion; cell-cell signaling; receptor guanylyl cyclase signaling pathway; phototransduction; positive regulation of catalytic activity; response to stimulus | 6p21.1 |
| GUCA1C | visual perception; signal transduction | 3q13.1 |
| GUCA2A | signal transduction | 1p35-p34 |
| GUCD1 | - | 22q11.2 |
| GUCY1A2 | blood coagulation; intracellular signal transduction; signal transduction; cGMP biosynthetic process | 11q21-q22 |
| GUCY1A3 | blood circulation; cGMP biosynthetic process; nitric oxide mediated signal transduction; blood coagulation; intracellular signal transduction | 4q31.1-q31.2 |
| GUCY1B2 | - | 13q14.3 |
| GUCY1B3 | blood circulation; nitric oxide mediated signal transduction; cGMP biosynthetic process; blood coagulation; intracellular signal transduction | 4q31.3-q33 |
| GUCY2C | cGMP biosynthetic process; receptor guanylyl cyclase signaling pathway; response to toxin; intracellular signal transduction; regulation of cell proliferation | 12p12 |
| GUCY2D | response to stimulus; cGMP biosynthetic process; receptor guanylyl cyclase signaling pathway; visual perception; intracellular signal transduction | 17p13.1 |
| GUCY2EP | - | 11q13.5 |
| GUCY2F | response to stimulus; intracellular signal transduction; visual perception; receptor guanylyl cyclase signaling pathway; cGMP biosynthetic process | 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 | lipid transport; transport; phagocytosis, engulfment; apoptotic process; 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; regulation of response to osmotic stress; interspecies interaction between organisms | 4q31.21 |
| GYPB | - | 4q31.21 |
| GYPC | - | 2q14-q21 |
| GYPE | - | 4q31.1 |
| GYS1 | carbohydrate metabolic process; glycogen biosynthetic process; glucose metabolic process; heart development; small molecule metabolic process | 19q13.3 |
| GYS2 | glycogen biosynthetic process; carbohydrate metabolic 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 from RNA polymerase II promoter; branching involved in ureteric bud morphogenesis; negative regulation of transcription, DNA-dependent | 20p11.21 |
| GZMA | apoptotic process; 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; cleavage of lamin | 5q11-q12 |
| GZMB | apoptotic process; proteolysis; cleavage of lamin; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; cytolysis | 14q11.2 |
| GZMH | proteolysis; apoptotic process; cytolysis | 14q11.2 |
| GZMM | cytolysis; apoptotic process; innate immune response; proteolysis | 19p13.3 |
| H19 | - | 11p15.5 |
| H1F0 | DNA fragmentation involved in apoptotic nuclear change; nucleosome assembly; apoptotic process; cellular component disassembly involved in apoptosis | 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 | DNA damage checkpoint; meiosis; cell cycle; double-strand break repair via homologous recombination; DNA repair; double-strand break repair; DNA recombination; nucleosome assembly; response to ionizing radiation; response to DNA damage stimulus; positive regulation of DNA repair | 11q23.3 |
| H2AFY | chromatin modification; dosage compensation; nucleosome assembly | 5q31.1 |
| H2AFY2 | chromatin modification; dosage compensation; nucleosome assembly | 10q22.1 |
| H2AFZ | nucleosome assembly | 4q24 |
| H2AFZP6 | - | - |
| H2BFS | nucleosome assembly; defense response to bacterium | 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 | glucose metabolic process; carbohydrate metabolic process; NADP metabolic process; pentose-phosphate shunt | 1p36 |
| HAAO | neuron homeostasis; response to cadmium ion; small molecule metabolic process; cellular nitrogen compound metabolic process; quinolinate biosynthetic process; tryptophan catabolic process; response to zinc ion; pyridine nucleotide biosynthetic process | 2p21 |
| HABP2 | proteolysis; cell adhesion | 10q25.3 |
| HABP4 | platelet degranulation; regulation of transcription, DNA-dependent; cellular response to mechanical stimulus; negative regulation of DNA binding; platelet activation; blood coagulation | 9q22.3-q31 |
| HACD1 | protein dephosphorylation; fatty acid biosynthetic process; signal transduction; multicellular organismal development; peptidyl-tyrosine dephosphorylation | 10p14-p13 |
| HACD2 | fatty acid biosynthetic process | 3q21.1 |
| HACD3 | Rho protein signal transduction; fatty acid biosynthetic process; I-kappaB kinase/NF-kappaB cascade; activation of JUN kinase activity; small GTPase mediated signal transduction; positive regulation of GTPase activity; Rac protein signal transduction | 15q22.2 |
| HACD4 | fatty acid biosynthetic process | 9p21.3 |
| HACE1 | cellular membrane fusion; Rac protein signal transduction; regulation of cell migration; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein ubiquitination; protein modification process; regulation of transcription, DNA-dependent; cell cycle; Golgi organization; protein K48-linked ubiquitination | 6q16.3 |
| HACL1 | small molecule metabolic process; fatty acid alpha-oxidation; cellular lipid metabolic process; protein oligomerization | 3p25.1 |
| HADH | fatty acid beta-oxidation; negative regulation of insulin secretion; small molecule metabolic process; cellular lipid metabolic process; response to drug; response to insulin stimulus; response to activity; response to hormone stimulus; fatty acid metabolic process | 4q22-q26 |
| HADHA | small molecule metabolic process; response to drug; response to insulin stimulus; fatty acid beta-oxidation; fatty acid metabolic process; cellular lipid metabolic process | 2p23 |
| HADHAP1 | - | 4q32 |
| HADHAP2 | - | 12p13.31 |
| HADHB | fatty acid metabolic process; fatty acid beta-oxidation; cellular lipid metabolic process; small molecule metabolic process; oxidation-reduction process | 2p23 |
| HAGH | metabolic process; carbohydrate metabolic process; glutathione biosynthetic 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 | negative regulation of DNA binding; positive regulation of transcription, DNA-dependent; negative regulation of osteoblast differentiation; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of apoptotic process; embryonic digit morphogenesis; odontogenesis of dentin-containing tooth; cardiac neural crest cell development involved in outflow tract morphogenesis; cell differentiation; positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis; positive regulation of transcription from RNA polymerase II promoter; sympathetic nervous system development; thymus development; peripheral nervous system neuron development; palate development; mesenchyme development; positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process; positive regulation of transcription regulatory region DNA binding; cell proliferation involved in outflow tract morphogenesis; visceral serous pe | 4q33 |
| HAND2-AS1 | - | 4q34.1 |
| HAO2 | fatty acid oxidation; mandelate metabolic process; protein homooligomerization | 1p13.3-p13.1 |
| HAO2-IT1 | - | - |
| HAP1 | synaptic transmission; protein localization; brain development | 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 | tRNA aminoacylation for protein translation; histidyl-tRNA aminoacylation; gene expression; translation | 5q31.3 |
| HAS1 | hyaluronan biosynthetic process; glycosaminoglycan biosynthetic process; cell adhesion | 19q13.4 |
| HAS2 | hyaluronan biosynthetic process; positive regulation of urine volume; renal water absorption | 8q24.12 |
| HAS2-AS1 | - | 8q24.13 |
| HAS3 | positive regulation of transcription, DNA-dependent; carbohydrate metabolic process; hyaluronan biosynthetic process | 16q22.1 |
| HAT1 | histone acetylation; DNA packaging; chromatin silencing at telomere; internal protein amino acid acetylation; response to nutrient; chromatin modification | 2q31.2-q33.1 |
| HAUS1 | cell cycle; cell division; centrosome organization; spindle assembly; mitosis | 18q21.1 |
| HAUS2 | mitotic cell cycle; mitosis; G2/M transition of mitotic cell cycle; spindle assembly; centrosome organization; cell division | 15q15.2 |
| HAUS3 | cell cycle; mitosis; spindle assembly; centrosome organization; cell division | 4p16.3 |
| HAUS4 | cell cycle; mitosis; spindle assembly; centrosome organization; cell division | 14q11.2 |
| HAUS4P1 | - | 1q24.2 |
| HAUS5 | cell cycle; mitosis; cell division; centrosome organization; spindle assembly | 19q13.12 |
| HAUS6 | cell cycle; mitosis; spindle assembly; centrosome organization; cell division | 9p22.1 |
| HAUS6P1 | - | 7p12.1 |
| HAUS6P2 | - | 20q11.21 |
| HAUS7 | cell division; centrosome organization; cell cycle; mitosis; spindle assembly | Xq28 |
| HAUS8 | spindle assembly; centrosome organization; mitosis; cell division; cell cycle | 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; transport; protein heterooligomerization; regulation of blood vessel size; positive regulation of nitric oxide biosynthetic process; hydrogen peroxide catabolic process; response to hydrogen peroxide; nitric oxide transport; oxygen transport; positive regulation of cell death; regulation of blood pressure | 11p15.5 |
| HBBP1 | - | 11p15.5 |
| HBCBP | - | 12q13.3 |
| HBD | transport; blood coagulation | 11p15.5 |
| HBE1 | negative regulation of transcription from RNA polymerase II promoter; oxygen transport; blood coagulation; transport | 11p15.5 |
| HBEGF | epidermal growth factor receptor signaling pathway; muscle organ development; regulation of heart contraction; positive regulation of cell growth; positive regulation of cell migration; wound healing, spreading of epidermal cells; positive regulation of smooth muscle cell proliferation; negative regulation of elastin biosynthetic process; positive regulation of keratinocyte migration; positive regulation of protein kinase B signaling cascade; positive regulation of wound healing; signal transduction | 5q23 |
| HBG1 | transport; blood coagulation | 11p15.5 |
| HBG2 | transport; blood coagulation | 11p15.5 |
| HBP1 | Wnt receptor signaling pathway; cell cycle arrest; regulation of transcription, DNA-dependent | 7q22-q31 |
| HBQ1 | transport; oxygen transport | 16p13.3 |
| HBS1L | translation; signal transduction | 6q23.3 |
| HBZ | transport; negative regulation of transcription from RNA polymerase II promoter; erythrocyte maturation; oxygen transport | 16p13.3 |
| HBZP1 | - | 16p13.3 |
| HCAR1 | response to estradiol stimulus | 12q24.31 |
| HCAR2 | neutrophil apoptosis; positive regulation of adiponectin secretion; negative regulation of lipid catabolic process; positive regulation of neutrophil apoptosis; apoptotic process | 12q24.31 |
| HCAR3 | G-protein coupled receptor signaling pathway | 12q24.31 |
| HCCAT4 | - | 9q34.3 |
| HCCAT5 | - | 16q22.3 |
| HCCS | oxidation-reduction process; organ morphogenesis | Xp22.3 |
| HCFC1 | positive regulation of cell cycle; interspecies interaction between organisms; protein stabilization; histone H4-K16 acetylation; histone H4-K5 acetylation; histone H4-K8 acetylation; reactivation of latent virus; positive regulation of gene expression; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; regulation of protein complex assembly | Xq28 |
| HCFC1R1 | - | 16p13.3 |
| HCFC2 | regulation of transcription from RNA polymerase II promoter; viral reproduction; 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 | positive regulation of actin filament polymerization; cytokine-mediated signaling pathway; peptidyl-tyrosine phosphorylation; viral reproduction; regulation of cell shape; positive regulation of cell proliferation; mesoderm development; integrin-mediated signaling pathway; cell adhesion; exocytosis; protein phosphorylation; innate immune response-activating signal transduction; leukocyte migration involved in immune response; negative regulation of apoptotic process; regulation of phagocytosis; defense response to Gram-positive bacterium; regulation of sequence-specific DNA binding transcription factor activity; lipopolysaccharide-mediated signaling pathway; interferon-gamma-mediated signaling pathway; regulation of podosome assembly; positive regulation of actin cytoskeleton reorganization; regulation of inflammatory response; regulation of defense response to virus by virus; protein autophosphorylation; respiratory burst after phagocytosis; innate immune response; interspecies interaction between organisms; | 20q11-q12 |
| HCLS1 | positive regulation of tyrosine phosphorylation of STAT protein; intracellular signal transduction; erythrocyte differentiation; response to hormone stimulus; positive regulation of cell proliferation; regulation of transcription, DNA-dependent | 3q13 |
| HCN1 | ion transport; potassium ion transport; synaptic transmission; retinal cone cell development; transmembrane transport; potassium ion transmembrane transport; apical protein localization | 5p12 |
| HCN2 | muscle contraction; cation transport; potassium ion transport; 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 | ion transport; transmembrane transport; synaptic transmission; potassium ion transport | 1q22 |
| HCN4 | muscle contraction; regulation of heart contraction; potassium ion transport; synaptic transmission; blood circulation; cation transport; in utero embryonic development | 15q24.1 |
| HCP5 | defense response | 6p21.3 |
| HCP5B | - | 6p21.3 |
| HCRT | 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; synaptic transmission; negative regulation of DNA replication; eating behavior; negative regulation of potassium ion transport; 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; neuropeptide signaling pathway | 17q21 |
| HCRTR1 | feeding behavior; synaptic transmission; neuropeptide signaling pathway | 1p33 |
| HCRTR2 | activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; neuropeptide signaling pathway; synaptic transmission; feeding behavior | 6p12 |
| HCST | regulation of immune response | 19q13.1 |
| HDAC1 | 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; histone H4 deacetylation; histone H3 deacetylation; fungiform papilla formation; eyelid development in camera-type eye; hair follicle placode formation; negative regulation of androgen receptor signaling pathway; nerve growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of cell cycle; interspecies interaction between organisms; negative regulation by host of viral transcription; negative regulation of apoptotic process; embryonic digit morphogenesis; odontogenesis of dentin-containing tooth; histone deacetylation; chromatin modification; positive regulation of receptor biosynthetic pro | 1p34 |
| HDAC10 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; histone deacetylation; chromatin modification; oligodendrocyte development; protein deacetylation; regulation of transcription, DNA-dependent | 22q13.31 |
| HDAC11 | oligodendrocyte development; histone deacetylation; chromatin modification; regulation of transcription, DNA-dependent | 3p25.1 |
| HDAC11-AS1 | - | - |
| HDAC1P1 | - | 10q23.33 |
| HDAC1P2 | - | - |
| HDAC2 | negative regulation of transcription from RNA polymerase II promoter; chromatin remodeling; blood coagulation; fungiform papilla formation; eyelid development in camera-type eye; hair follicle placode formation; nerve growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of proteolysis; negative regulation of cell cycle; negative regulation of MHC class II biosynthetic process; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of apoptotic process; embryonic digit morphogenesis; odontogenesis of dentin-containing tooth; positive regulation of collagen biosynthetic process; histone deacetylation; dendrite development; negative regulation of neuron projection development; positive regulation of receptor biosynthetic process; epidermal cell differentiation; positive regulation o | 6q21 |
| HDAC3 | anti-apoptosis; negative regulation of transcription from RNA polymerase II promoter; protein deacetylation; regulation of mitotic cell cycle; negative regulation of myotube differentiation; chromatin modification; histone deacetylation; negative regulation of transcription, DNA-dependent; negative regulation of cell cycle; small molecule metabolic process; negative regulation of JNK cascade; nerve growth factor receptor signaling pathway; spindle assembly; circadian regulation of gene expression; regulation of multicellular organism growth; cellular lipid metabolic process; response to drug | 5q31 |
| HDAC4 | negative regulation of transcription from RNA polymerase II promoter; B cell differentiation; chromatin modification; histone deacetylation; positive regulation of protein sumoylation; cardiac muscle hypertrophy in response to stress; response to denervation involved in regulation of muscle adaptation; regulation of cardiac muscle contraction by calcium ion signaling; nervous system development; positive regulation of cell proliferation; negative regulation of cell proliferation; negative regulation of myotube differentiation; skeletal system development; histone H4 deacetylation; histone H3 deacetylation; response to interleukin-1; chromatin remodeling; positive regulation of sequence-specific DNA binding transcription factor activity; regulation of skeletal muscle fiber development; osteoblast development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; inflammatory response; negat | 2q37.3 |
| HDAC5 | chromatin remodeling; histone deacetylation; chromatin organization; negative regulation of transcription from RNA polymerase II promoter; regulation of protein binding; negative regulation of transcription, DNA-dependent; B cell differentiation; chromatin silencing; inflammatory response; regulation of myotube differentiation; negative regulation of myotube differentiation; B cell activation; cellular response to insulin stimulus; chromatin modification; negative regulation of cell migration involved in sprouting angiogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of sequence-specific DNA binding transcription factor activity | 17q21 |
| HDAC6 | cellular response to hydrogen peroxide; tubulin deacetylation; regulation of receptor activity; peptidyl-lysine deacetylation; lysosome localization; histone deacetylation; chromatin modification; macroautophagy; positive regulation of receptor biosynthetic process; negative regulation of hydrogen peroxide metabolic process; positive regulation of epithelial cell migration; cellular response to misfolded protein; response to organic substance; positive regulation of signal transduction; response to toxin; negative regulation of microtubule depolymerization; intracellular protein transport; misfolded or incompletely synthesized protein catabolic process; protein deacetylation; protein polyubiquitination; positive regulation of apoptotic process; positive regulation of chaperone-mediated protein complex assembly; response to growth factor stimulus; Hsp90 deacetylation; polyubiquitinated misfolded protein transport; aggresome assembly; regulation of androgen receptor signaling pathway; regulation of microtubule- | Xp11.23 |
| HDAC7 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of interleukin-2 production; vasculogenesis; positive regulation of cell migration involved in sprouting angiogenesis; chromatin modification; negative regulation of osteoblast differentiation; cell-cell junction assembly | 12q13.1 |
| HDAC8 | histone deacetylation; chromatin modification; regulation of transcription, DNA-dependent; chromatin assembly or disassembly; negative regulation of transcription from RNA polymerase II promoter | Xq13 |
| HDAC9 | regulation of striated muscle cell differentiation; positive regulation of cell migration involved in sprouting angiogenesis; histone H4 deacetylation; histone H3 deacetylation; regulation of skeletal muscle fiber development; negative regulation of transcription, DNA-dependent; B cell activation; peptidyl-lysine deacetylation; cellular response to insulin stimulus; B cell differentiation; histone deacetylation; chromatin modification; heart development; inflammatory response; negative regulation of transcription from RNA polymerase II promoter | 7p21.1 |
| HDC | histamine metabolic process; histidine metabolic process; histidine catabolic process; cellular nitrogen compound metabolic process; catecholamine biosynthetic process; small molecule 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 | transport; cholesterol metabolic process; steroid metabolic process; 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 modification process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 14q12 |
| HECTD2 | protein modification process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 10q23.32 |
| HECTD2-AS1 | - | 10q23.32 |
| HECTD3 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein ubiquitination; proteasomal ubiquitin-dependent protein catabolic process; protein modification process | 1p34.1 |
| HECTD4 | - | 12q24.13 |
| HECW1 | protein modification process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 7p13 |
| HECW1-IT1 | - | 7p14.1 |
| HECW2 | protein modification process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 2q32.3 |
| HEG1 | pericardium development; cardiac atrium morphogenesis; lymph circulation; lymph vessel development; endothelial cell morphogenesis; in utero embryonic development; vasculogenesis; ventricular septum development; post-embryonic development; lung development; regulation of body fluid levels; venous blood vessel morphogenesis; cell-cell junction organization; multicellular organism growth | 3q21.2 |
| HEIH | - | 5q35.3 |
| HELB | DNA replication, synthesis of RNA primer; DNA replication | 12q14.3|12q |
| HELLPAR | - | 12q23 |
| HELLS | urogenital system development; methylation-dependent chromatin silencing; regulation of transcription, DNA-dependent; anti-apoptosis; cell cycle; mitosis; multicellular organismal development; cell division; lymphocyte proliferation; centromeric heterochromatin assembly; maintenance of DNA methylation | 10q24.2 |
| HELQ | - | 4q21.23 |
| HELZ | - | 17q24.2 |
| HELZ2 | - | 20q13.33 |
| HEMGN | regulation of osteoblast differentiation; cell differentiation; multicellular organismal development | 9q22.33 |
| HEMK1 | DNA methylation | 3p21.3 |
| HENMT1 | gene silencing by RNA; piRNA metabolic process; RNA methylation | 1p13.3 |
| HEPACAM | regulation of growth; cell adhesion; cell cycle arrest; cell cycle | 11q24.2 |
| HEPACAM2 | - | 7q21.3 |
| HEPH | copper ion transport; ion transport; cellular iron ion homeostasis; erythrocyte differentiation; transmembrane transport | Xq11-q12 |
| HEPHL1 | copper ion transport; ion transport | 11q21 |
| HEPN1 | - | 11q24 |
| HERC1 | protein modification process; transport | 15q22 |
| HERC2 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; intracellular protein transport; protein modification process; spermatogenesis; DNA repair; protein ubiquitination | 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 ubiquitination involved in ubiquitin-dependent protein catabolic process; cell differentiation; spermatogenesis; protein modification process | 10q21.3 |
| HERC5 | regulation of defense response to virus; innate immune response; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; negative regulation of type I interferon production; ISG15-protein conjugation; cytokine-mediated signaling pathway; response to virus; regulation of cyclin-dependent protein kinase activity | 4q22.1 |
| HERC6 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein modification process | 4q22.1 |
| HERPUD1 | response to unfolded protein; cellular calcium ion homeostasis; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; endoplasmic reticulum unfolded protein response; activation of signaling protein activity involved in unfolded protein response; response to stress | 16q13 |
| HERPUD2 | response to unfolded protein; spermatogenesis | 7p14.2 |
| HES1 | regulation of secondary heart field cardioblast proliferation; lung development; adenohypophysis development; neural tube development; forebrain radial glial cell differentiation; hindbrain morphogenesis; negative regulation of pro-B cell differentiation; negative regulation of transcription from RNA polymerase II promoter; in utero embryonic development; liver development; outflow tract morphogenesis; trochlear nerve development; ventricular septum development; protein complex assembly; cell adhesion; Notch signaling pathway; smoothened signaling pathway; STAT protein import into nucleus; pattern specification process; nervous system development; positive regulation of cell proliferation; cell migration; telencephalon development; midbrain-hindbrain boundary morphogenesis; oculomotor nerve development; S-shaped body morphogenesis; regulation of neurogenesis; pharyngeal system development; regulation of timing of neuron differentiation; negative regulation of glial cell proliferation; ureteric bud morphogenes | 3q28-q29 |
| HES2 | negative regulation of transcription, DNA-dependent | 1p36.31 |
| HES4 | nervous system development; multicellular organismal development; regulation of transcription, DNA-dependent; cell differentiation | 1p36.33 |
| HES5 | brain development; central nervous system myelination; glial cell fate commitment; telencephalon development; neural tube development; positive regulation of cell proliferation; oligodendrocyte development; multicellular organismal development; smoothened signaling pathway; Notch signaling pathway; cell adhesion; negative regulation of transcription from RNA polymerase II promoter; chondrocyte differentiation; protein complex assembly; astrocyte differentiation; metanephric nephron tubule morphogenesis; specification of loop of Henle identity; S-shaped body morphogenesis; cartilage development; regulation of neurogenesis; auditory receptor cell fate determination; camera-type eye development; negative regulation of oligodendrocyte differentiation; negative regulation of astrocyte differentiation; comma-shaped body morphogenesis; positive regulation of smooth muscle cell proliferation; cell maturation; positive regulation of JAK-STAT cascade; positive regulation of transcription from RNA polymerase II promoter | 1p36.32 |
| HES6 | cell differentiation; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; multicellular organismal development; nervous system development | 2q37.3 |
| HES7 | mesoderm development; multicellular organismal development; regulation of transcription, DNA-dependent | 17p13.1 |
| HESX1 | forebrain morphogenesis; otic vesicle formation; nose development; negative regulation of transcription, DNA-dependent; brain development; multicellular organismal development | 3p14.3 |
| HEXA | locomotory behavior; adult walking behavior; cell death; lipid storage; sexual reproduction; glycosaminoglycan metabolic process; skeletal system development; myelination; small molecule metabolic process; cell morphogenesis involved in neuron differentiation; neuromuscular process controlling posture; neuromuscular process controlling balance; lysosome organization; ganglioside catabolic process; glycosphingolipid metabolic process; sphingolipid metabolic process; carbohydrate metabolic process; sensory perception of sound | 15q24.1 |
| HEXA-AS1 | - | 15q23 |
| HEXB | lysosome organization; penetration of zona pellucida; sensory perception of sound; locomotory behavior; male courtship behavior; cell death; phospholipid biosynthetic process; regulation of cellular metabolic process; glycosaminoglycan metabolic process; sexual reproduction; lipid storage; oligosaccharide catabolic 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 | 5q13 |
| HEXDC | carbohydrate metabolic process | 17q25.3 |
| HEXDC-IT1 | - | 17q25.3 |
| HEXIM1 | heart development; negative regulation of cyclin-dependent protein kinase activity; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 17q21.31 |
| HEXIM2 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of cyclin-dependent protein kinase activity; negative regulation of transcription, DNA-dependent | 17q21.31 |
| HEY1 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation; negative regulation of transcription regulatory region DNA binding; negative regulation of transcription, DNA-dependent; negative regulation of Notch signaling pathway; multicellular organismal development; Notch signaling pathway; epithelial to mesenchymal transition involved in endocardial cushion formation; angiogenesis | 8q21 |
| HEY2 | regulation of auditory receptor cell differentiation; cell fate commitment; negative regulation of Notch signaling pathway; negative regulation of transcription, DNA-dependent; smooth muscle cell differentiation; ventricular cardiac muscle cell development; positive regulation of cardiac muscle cell proliferation; negative regulation of transcription initiation from RNA polymerase II promoter; artery development; cardiac vascular smooth muscle cell development; coronary vasculature morphogenesis; protein-DNA complex assembly; cochlea development; vascular smooth muscle cell development; negative regulation of transcription regulatory region DNA binding; negative regulation of cardiac vascular smooth muscle cell differentiation; negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation; cardiac muscle hypertrophy in response to stress; negative regulation of transcription from RNA polymerase II promoter; vasculogenesis; atrioventricular valve developmen | 6q21 |
| HEYL | epithelial to mesenchymal transition involved in endocardial cushion formation; Notch signaling pathway; multicellular organismal development; glomerulus development; positive regulation of neuron differentiation; 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; proximal tubule development; negative regulation of androgen receptor activity | 1p34.3 |
| HFE | antigen processing and presentation of peptide antigen via MHC class I; multicellular organismal iron ion homeostasis; hormone biosynthetic process; antigen processing and presentation; cellular response to iron ion starvation; female pregnancy; immune response; receptor-mediated endocytosis; cellular iron ion homeostasis; iron ion transport; ion transport; protein complex assembly | 6p21.3 |
| HFE2 | axon guidance | 1q21.1 |
| HFM1 | - | 1p22.2 |
| HGC6.3 | - | 6q27 |
| HGD | cellular amino acid metabolic process; L-phenylalanine catabolic process; tyrosine catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 3q13.33 |
| HGF | activation of MAPK activity; cell chemotaxis; myoblast proliferation; positive regulation of peptidyl-tyrosine phosphorylation; hepatocyte growth factor receptor signaling pathway; cell morphogenesis; cellular response to hepatocyte growth factor stimulus; organ regeneration; platelet activation; blood coagulation; mitosis; anti-apoptosis; proteolysis; liver development; regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling; positive regulation of DNA biosynthetic process; platelet degranulation; epithelial to mesenchymal transition | 7q21.1 |
| HGFAC | proteolysis | 4p16 |
| HGH1 | - | 8q24.3 |
| HGS | negative regulation of JAK-STAT cascade; regulation of protein catabolic process; negative regulation of epidermal growth factor receptor signaling pathway; endosome transport; cellular membrane organization; endosome to lysosome transport; negative regulation of cell proliferation; epidermal growth factor receptor signaling pathway; signal transduction; intracellular protein transport | 17q25 |
| HGSNAT | lysosomal transport; protein oligomerization | 8p11.1 |
| HHAT | multicellular organismal development | 1q32 |
| HHATL | negative regulation of N-terminal protein palmitoylation | 3p22.1 |
| HHEX | signal transduction; multicellular organismal development; endoderm development; cell proliferation; response to wounding; organ morphogenesis; anterior/posterior pattern specification; negative regulation of transcription by transcription factor localization; negative regulation of transcription by competitive promoter binding; negative regulation of angiogenesis; poly(A)+ mRNA export from nucleus; interkinetic nuclear migration; hemopoiesis; in utero embryonic development; negative regulation of transcription from RNA polymerase II promoter; vasculogenesis; positive regulation of Wnt receptor signaling pathway; myeloid leukocyte differentiation; morphogenesis of an epithelium; primitive streak formation; DNA conformation change; hepatocyte differentiation; hepatoblast differentiation; hepatic duct development; gall bladder development; common bile duct development; primary lung bud formation; forebrain morphogenesis; embryonic organ development; mRNA export from nucleus; cell cycle; positive regulation of t | 10q23.33 |
| HHIP | carbohydrate metabolic process; epithelial tube branching involved in lung morphogenesis; neuroblast proliferation; dorsal/ventral pattern formation; skeletal system morphogenesis; negative regulation of smoothened signaling pathway; regulation of fibroblast growth factor receptor signaling pathway; negative regulation of signal transduction | 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 | branched chain family amino acid catabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; valine metabolic process; pentose-phosphate shunt | 7p15.2 |
| HIBCH | small molecule metabolic process; cellular nitrogen compound metabolic process; branched chain family amino acid catabolic process | 2q32.2 |
| HIC1 | DNA damage response, signal transduction resulting in induction of apoptosis; positive regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; negative regulation of Wnt receptor signaling pathway | 17p13.3 |
| HIC2 | negative regulation of transcription, DNA-dependent | 22q11.21 |
| HID1 | - | 17q25.1 |
| HIF1A | embryonic placenta development; B-1 B cell homeostasis; negative regulation of growth; cellular response to insulin stimulus; regulation of transforming growth factor beta2 production; collagen metabolic process; embryonic hemopoiesis; hemoglobin biosynthetic process; glucose homeostasis; mRNA transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter in response to oxidative stress; positive regulation of erythrocyte differentiation; positive regulation of angiogenesis; positive regulation of glycolysis; positive regulation of transcription, DNA-dependent; positive regulation of endothelial cell proliferation; positive regulation of transcription from RNA polymerase II promoter; muscle cell homeostasis; positive regulation of hormone biosynthetic process; positive regulation of smooth muscle cell proliferation; regulation of catalytic activity; positive regulation of nitric-oxide synthase activity; cartilage development; elastin metabolic process; positive regu | 14q23.2 |
| HIF1A-AS1 | - | 14q23.2 |
| HIF1A-AS2 | - | 14q23.2 |
| HIF1AN | peptidyl-asparagine hydroxylation; regulation of transcription, DNA-dependent; 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 | response to stress; positive regulation of cell proliferation; positive regulation of lipid storage; autocrine signaling; positive regulation of cytokine production | 7q32.1 |
| HILS1 | chromatin silencing; chromatin remodeling; nucleosome assembly; cell differentiation; regulation of transcription, DNA-dependent; multicellular organismal development; germ cell development; spermatogenesis; chromosome condensation | 17q21.33 |
| HINFP | positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; myoblast differentiation; establishment of protein localization; negative regulation of gene expression; DNA damage checkpoint; positive regulation of gene expression; G1/S transition of mitotic cell cycle; DNA repair; regulation of gene expression; regulation of transcription, DNA-dependent; regulation of transcription involved in G1/S phase of mitotic cell cycle; in utero embryonic development | 11q23.3 |
| HINT1 | signal transduction | 5q31.2 |
| HINT1P1 | - | 7q34 |
| HINT2 | steroid biosynthetic process; apoptotic process | 9p13.3 |
| HINT3 | - | 6q22.32 |
| HIP1 | regulation of apoptotic process; regulation of transcription, DNA-dependent; endocytosis; apoptotic process; induction of apoptosis; cell differentiation; positive regulation of receptor-mediated endocytosis; clathrin coat assembly; cell death; activation of cysteine-type endopeptidase activity involved in apoptotic process | 7q11.23 |
| HIP1R | receptor-mediated endocytosis | 12q24 |
| HIPK1 | definitive hemopoiesis; eye development; positive regulation of angiogenesis; regulation of tumor necrosis factor-mediated signaling pathway; apoptotic process; regulation of transcription, DNA-dependent | 1p13.2 |
| HIPK1-AS1 | - | - |
| HIPK2 | peptidyl-threonine phosphorylation; virus-host interaction; peptidyl-serine phosphorylation; retina layer formation; anterior/posterior pattern specification; induction of apoptosis by intracellular signals; positive regulation of cell proliferation; adult walking behavior; smoothened signaling pathway; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; response to DNA damage stimulus; apoptotic process; protein phosphorylation; eye development; negative regulation of transcription from RNA polymerase II promoter; positive regulation of JNK cascade; PML body organization; positive regulation of protein binding; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; positive regulation of DNA binding; negative regulation of neuron apoptosis; positive regulation of angiogenesis; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; neuron | 7q32-q34 |
| HIPK3 | negative regulation of JUN kinase activity; regulation of transcription, DNA-dependent; protein phosphorylation; peptidyl-threonine phosphorylation; peptidyl-serine phosphorylation; mRNA transcription; apoptotic process; anti-apoptosis | 11p13 |
| HIPK4 | - | 19q13.2 |
| HIRA | chromatin modification; anatomical structure morphogenesis; regulation of transcription from RNA polymerase II promoter; gastrulation | 22q11.21 |
| HIRIP3 | chromatin assembly or disassembly | 16p11.2 |
| HIST1H1A | spermatogenesis; nucleosome assembly | 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; binding of sperm to zona pellucida; cell differentiation; sperm motility; spermatogenesis | 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 | nucleosome assembly; inflammatory response; plasminogen activation; positive regulation of binding; cellular response to acid; mononuclear cell migration | 6p22.2 |
| HIST1H2BB | nucleosome assembly | 6p21.3 |
| HIST1H2BC | nucleosome assembly; defense response to bacterium | 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 | defense response to bacterium; nucleosome assembly | 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 | nucleosome assembly; blood coagulation; S phase; regulation of gene silencing | 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; blood coagulation; nucleosome assembly | 1q21.2 |
| HIST2H4B | phosphatidylinositol-mediated signaling; telomere maintenance; CenH3-containing nucleosome assembly at centromere; nucleosome assembly; chromatin organization; negative regulation of megakaryocyte differentiation | 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 | nucleosome assembly; regulation of DNA binding; CenH3-containing nucleosome assembly at centromere; regulation of protein complex assembly; centromeric core chromatin assembly; chromosome segregation; cell cycle | 2q37.1 |
| HK1 | carbohydrate metabolic process; glycolysis; hexose transport; glucose transport; small molecule metabolic process; transmembrane transport | 10q22 |
| HK2 | lactation; apoptotic mitochondrial changes; glycolysis; glucose metabolic process; carbohydrate metabolic process; regulation of glucose import; small molecule metabolic process; glucose transport; hexose transport; carbohydrate phosphorylation; transmembrane transport | 2p13 |
| HK2P1 | - | Xq21.1 |
| HK3 | carbohydrate metabolic process; glycolysis; hexose transport; glucose transport; small molecule metabolic process; transmembrane transport | 5q35.2 |
| HKDC1 | carbohydrate metabolic process; glycolysis | 10q22.1 |
| HKR1 | multicellular organismal development; regulation of transcription, DNA-dependent | 19q13.12 |
| HLA-A | antigen processing and presentation of exogenous peptide antigen via MHC class I; cytokine-mediated signaling pathway; viral reproduction; interspecies interaction between organisms; 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; regulation of defense response to virus by virus; regulation of immune response; interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway; antigen processing and presentation | 6p21.3 |
| HLA-B | regulation of immune response; interspecies interaction between organisms; 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; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; regulation of T cell anergy; defense response; immune response; cytokine-mediated signaling pathway; antigen processing and presentation; regulation of interleukin-12 production; regulation of interleukin-6 production; regulation of dendritic cell differentiation; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway | 6p21.3 |
| HLA-C | immune response; 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; antigen processing and presentation; cytokine-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 | 6p21.3 |
| HLA-DMA | T cell costimulation; positive thymic T cell selection; positive regulation of T cell differentiation; positive regulation of immune response; T cell receptor signaling pathway; chaperone mediated protein folding requiring cofactor; interferon-gamma-mediated signaling pathway; antigen processing and presentation of exogenous peptide antigen via MHC class II; cytokine-mediated signaling pathway; immunoglobulin mediated immune response; protein transport; protein complex assembly; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 6p21.3 |
| HLA-DMB | interferon-gamma-mediated signaling pathway; T cell receptor signaling pathway; 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-DOA | immune response; interferon-gamma-mediated signaling pathway; T cell receptor signaling pathway; regulation of T cell differentiation; T cell costimulation; antigen processing and presentation of exogenous peptide antigen via MHC class II; cytokine-mediated signaling pathway; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 6p21.3 |
| HLA-DOB | 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-DPA1 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; cellular response to interferon-gamma; interferon-gamma-mediated signaling pathway; T cell receptor signaling pathway; T cell costimulation; cytokine-mediated signaling pathway; immune response | 6p21.3 |
| HLA-DPA2 | - | 6p21.32 |
| HLA-DPB1 | cytokine-mediated signaling pathway; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; immune response; T cell costimulation; T cell receptor signaling pathway; interferon-gamma-mediated signaling pathway | 6p21.3 |
| HLA-DPB2 | - | 6p21.3 |
| HLA-DQA2 | T cell receptor signaling pathway; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; immune response; cytokine-mediated signaling pathway; T cell costimulation; interferon-gamma-mediated signaling pathway | 6p21.3 |
| HLA-DQB1 | positive regulation of T-helper 1 type immune response; B cell affinity maturation; cellular response to interferon-gamma; interferon-gamma-mediated signaling pathway; T cell receptor signaling pathway; 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 antigen processing and presentation; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 6p21.3 |
| HLA-DQB2 | 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 |
| HLA-DQB3 | - | 6p21.3 |
| HLA-DRA | 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-DRB1 | interferon-gamma-mediated signaling pathway; T cell receptor signaling pathway; 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-DRB2 | - | 6p21.3 |
| HLA-DRB3 | regulation of interleukin-10 secretion; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; immune response; signal transduction; cytokine-mediated signaling pathway; T cell costimulation; regulation of interleukin-4 production; T cell receptor signaling pathway; protein tetramerization; interferon-gamma-mediated signaling pathway | 6p21.3 |
| HLA-DRB4 | cytokine-mediated signaling pathway; T cell costimulation; T cell receptor signaling pathway; interferon-gamma-mediated signaling pathway; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; immune response; signal transduction | 6p21.3 |
| HLA-DRB5 | T cell receptor signaling pathway; interferon-gamma-mediated signaling pathway; 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-DRB6 | - | 6p21.3 |
| HLA-E | antigen processing and presentation; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; regulation of immune response; 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; antigen processing and presentation of peptide antigen via MHC class I | 6p21.3 |
| HLA-F | immune response; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; regulation of immune response; antigen processing and presentation of exogenous peptide antigen via MHC class I; antigen processing and presentation; cytokine-mediated signaling pathway; 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-AS1 | - | 6p22.1 |
| HLA-G | 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; cellular defense response; positive regulation of T cell tolerance induction; cytokine-mediated signaling pathway; antigen processing and presentation; positive regulation of interleukin-12 production; negative regulation of T cell proliferation; antigen processing and presentation of exogenous peptide antigen via MHC class I; positive regulation of regulatory T cell differentiation; 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-independent; immune response-inhibiting cell surface receptor signaling pathway; immune response | 6p21.3 |
| HLA-H | antigen processing and presentation; immune response; 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 | histone biotinylation; response to biotin; histone modification; protein biotinylation; cell proliferation | 21q22.13 |
| HLCS-IT1 | - | - |
| HLF | rhythmic process; transcription from RNA polymerase II promoter; multicellular organismal development | 17q22 |
| HLFP1 | - | - |
| HLTF | regulation of transcription from RNA polymerase II promoter; chromatin modification; regulation of transcription, DNA-dependent | 3q25.1-q26.1 |
| HLX | skeletal muscle tissue development; positive regulation of cell proliferation; cell differentiation; positive regulation of T-helper 1 cell differentiation; negative regulation of T-helper 2 cell differentiation; positive regulation of organ growth; enteric nervous system development; embryonic digestive tract morphogenesis; liver development; multicellular organismal development | 1q41 |
| HM13 | membrane protein proteolysis | 20q11.21 |
| HMBOX1 | negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 8p21.1 |
| HMBS | cellular response to antibiotic; response to amino acid stimulus; cellular response to dexamethasone stimulus; cellular response to amine stimulus; cellular response to cytokine stimulus; cellular response to lead ion; cellular response to arsenic-containing substance; response to methylmercury; astrocyte differentiation; response to drug; response to vitamin; response to estradiol stimulus; response to cobalt ion; response to nutrient levels; organ regeneration; peptidyl-pyrromethane cofactor linkage; response to organic cyclic compound; response to zinc ion; response to carbohydrate stimulus; response to hormone stimulus; heme biosynthetic process; porphyrin-containing compound metabolic process; response to hypoxia; small molecule metabolic process | 11q23.3 |
| HMCES | - | 3q21.3 |
| HMCN1 | visual perception; response to stimulus | 1q25.3-q31.1 |
| HMCN2 | response to stimulus | 9q34.11 |
| HMG20A | chromatin modification; chromatin organization; regulation of transcription, DNA-dependent | 15q24 |
| HMG20B | cell cycle; regulation of transcription, DNA-dependent; blood coagulation; chromatin modification; chromatin organization | 19p13.3 |
| HMGA1 | response to virus; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; interspecies interaction between organisms; senescence-associated heterochromatin focus assembly; negative regulation of chromatin silencing; initiation of viral infection; provirus integration; viral reproduction; DNA unwinding involved in replication; negative regulation of cell proliferation; protein complex assembly; regulation of transcription, DNA-dependent; nucleosome disassembly; base-excision repair; positive regulation of cellular senescence; oncogene-induced senescence | 6p21 |
| HMGA1P3 | - | 12q24.11 |
| HMGA1P4 | - | - |
| HMGA1P6 | - | 13q12.12 |
| HMGA1P8 | - | 2p13.1 |
| HMGA2 | negative regulation of DNA binding; oncogene-induced senescence; fat cell differentiation; negative regulation of retroviral genome replication; 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; positive regulation of cell cycle arrest; epithelial to mesenchymal transition; regulation of stem cell maintenance; positive regulation of stem cell proliferation; positive regulation of transcription regulatory region DNA binding; positive regulation of cellular response to X-ray; positive regulation of cellular senescence; positive regulation of response to DNA damage stimulus; negative regulation of double-strand break repair via nonhomologous end joining; regulation of cell | 12q15 |
| HMGB1 | positive regulation of apoptotic process; positive regulation of catalytic activity; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of DNA binding; innate immune response; positive regulation of myeloid cell differentiation; positive regulation of glycogen catabolic process; positive regulation of transcription from RNA polymerase II promoter; positive chemotaxis; DNA ligation involved in DNA repair; 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; response to glucocorticoid stimulus; negative regulation of apoptotic cell clearance; DNA fragmentation involved in apoptotic nuclear change; base-excision repair, DNA ligation; DNA topological change; inflammatory response to antigenic stimulu | 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 | positive regulation of megakaryocyte differentiation; DNA topological change; cellular response to lipopolysaccharide; cell chemotaxis; DNA ligation involved in DNA repair; positive chemotaxis; response to steroid hormone stimulus; phosphatidylinositol-mediated signaling; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of erythrocyte differentiation; positive regulation of DNA binding; V(D)J recombination; positive regulation of nuclease activity; spermatid nucleus differentiation; male gonad development; base-excision repair, DNA ligation; DNA fragmentation involved in apoptotic nuclear change; chromatin organization; positive regulation of endothelial cell proliferation; nucleosome assembly; regulation of transcription from RNA polymerase II promoter; apoptotic process; cellular component disassembly involved in apoptosis; spermatogenesis | 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; leucine catabolic process; small molecule metabolic process; cellular lipid metabolic process; response to starvation; embryo development; response to nutrient; mitochondrion organization; acyl-CoA metabolic process; liver development | 1p36.1-p35 |
| HMGCLL1 | - | 6p12.1 |
| HMGCR | small molecule metabolic process; cholesterol biosynthetic process; isoprenoid biosynthetic process; germ cell migration; gonad development; coenzyme A metabolic process; cellular lipid metabolic process | 5q13.3-q14 |
| HMGCS1 | response to acid; response to gonadotropin stimulus; cellular response to organic cyclic compound; cellular response to cholesterol; cellular response to follicle-stimulating hormone stimulus; response to lipoprotein stimulus; response to tellurium ion; small molecule metabolic process; liver development; lipid metabolic process; cellular lipid metabolic process; response to drug; response to vitamin E; response to purine-containing compound; response to organic nitrogen; response to low light intensity stimulus; male gonad development; cholesterol biosynthetic process; brain development; isoprenoid biosynthetic process | 5p14-p13 |
| HMGCS2 | response to nutrient; midgut development; response to temperature stimulus; isoprenoid biosynthetic process; response to growth hormone stimulus; brain development; cholesterol biosynthetic process; liver development; kidney development; response to cAMP; response to prostaglandin F stimulus; 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; ketone body biosynthetic process; cellular ketone body metabolic process; response to ethanol; small molecule metabolic process; cellular lipid metabolic process; response to starvation; response to drug; response to monosaccharide stimulus; response to triglyceride; response to glucagon stimulus; response to testosterone stimulus; multicellular organismal response to stress; cellular response to hormone stimulus; cellular response to insulin stimulus; lung development; response to metal io | 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 | chromatin organization; regulation of transcription, DNA-dependent | 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 | positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; chromatin modification; regulation of insulin secretion involved in cellular response to glucose stimulus | 6q14.1 |
| HMGN3-AS1 | - | 6q14.1 |
| HMGN4 | - | 6p21.3 |
| HMGN5 | positive regulation of transcription, DNA-dependent; chromatin modification; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | Xq13.3 |
| HMGXB3 | phosphorylation | 5q32 |
| HMGXB4 | negative regulation of Wnt receptor signaling pathway; endosome to lysosome transport | 22q13.1 |
| HMHA1 | small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 19p13.3 |
| HMHB1 | - | 5q31.3 |
| HMMR | - | 5q33.2-qter |
| HMOX1 | positive regulation of anti-apoptosis; negative regulation of DNA binding; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of neuron apoptosis; regulation of transcription from RNA polymerase II promoter in response to oxidative stress; response to estrogen stimulus; erythrocyte homeostasis; small molecule metabolic process; positive regulation of chemokine biosynthetic process; regulation of angiogenesis; positive regulation of angiogenesis; positive regulation of vasodilation; positive regulation of smooth muscle cell proliferation; negative regulation of smooth muscle cell proliferation; response to stimulus; regulation of sequence-specific DNA binding transcription factor activity; protein homooligomerization; iron ion homeostasis; transmembrane transport; cellular response to hypoxia; positive regulation of I-kappaB kinase/NF-kappaB cascade; porphyrin-containing compound metabolic process; negative regulation of mast cell degranulation; angiogenesis | 22q13.1 |
| HMOX2 | small molecule metabolic process; transmembrane transport; heme catabolic process; response to hypoxia; porphyrin-containing compound metabolic process; heme oxidation; cellular iron ion homeostasis; response to oxidative stress | 16p13.3 |
| HMP19 | - | 5q35.2 |
| HMSD | - | 18q22.1 |
| HMX1 | multicellular organismal development; negative regulation of transcription, DNA-dependent | 4p16.1 |
| HMX2 | inner ear morphogenesis; cell differentiation; positive regulation of cell proliferation; brain development; nervous system development; multicellular organismal development | 10q26.13 |
| HMX3 | embryo implantation; maternal process involved in female pregnancy; neuromuscular process controlling balance; inner ear morphogenesis; nervous system development; cell differentiation; brain development | 10q26.13 |
| HN1 | - | 17q25.1 |
| HN1L | - | 16p13.3 |
| HNF1A | embryonic limb morphogenesis; regulation of Wnt receptor signaling pathway; insulin secretion; fatty acid transport; bile acid and bile salt transport; response to glucose stimulus; cholesterol metabolic process; protein localization; response to oxidative stress; heme biosynthetic process; bile acid biosynthetic process; fatty acid biosynthetic process; reproductive structure development; regulation of transcription from RNA polymerase II promoter; chromatin remodeling; placenta development; liver development; blastocyst development; regulation of pronephros size; endocrine pancreas development; SMAD protein signal transduction; positive regulation of transcription initiation from RNA polymerase II promoter; regulation of insulin secretion; paraxial mesoderm formation; regulation of hormone secretion; glucose import; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; bone resorption; reverse cholesterol transport; glucose homeostasis; renal glucose absor | 12q24.2 |
| HNF1A-AS1 | - | 12q24.31 |
| HNF1B | positive regulation of transcription from RNA polymerase II promoter; embryonic digestive tract morphogenesis; branching morphogenesis of a tube; pronephros development; genitalia development; hindbrain development; epithelial cell proliferation; positive regulation of transcription initiation from RNA polymerase II promoter; epithelium development; ureteric bud elongation; hepatoblast differentiation; regulation of branch elongation involved in ureteric bud branching; mesonephric duct development; mesonephric duct formation; negative regulation of apoptotic process; negative regulation of transcription from RNA polymerase II promoter; kidney development; inner cell mass cell differentiation; endoderm development; response to glucose stimulus; anterior/posterior pattern specification; insulin secretion; regulation of Wnt receptor signaling pathway; endocrine pancreas development; regulation of pronephros size; pronephric nephron tubule development; regulation of endodermal cell fate specification; positive re | 17q12 |
| HNF4A | negative regulation of sequence-specific DNA binding transcription factor activity; endocrine pancreas development; signal transduction involved in regulation of gene expression; cell differentiation; negative regulation of cell growth; positive regulation of transcription, DNA-dependent; glucose homeostasis; negative regulation of tyrosine phosphorylation of Stat5 protein; response to drug; negative regulation of protein import into nucleus, translocation; regulation of microvillus assembly; cell-cell junction organization; positive regulation of gluconeogenesis; positive regulation of fatty acid biosynthetic process; 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; phospholipid homeostasis; SMAD protein signal transduction; regulation of growth hormone receptor signaling pathway; triglyceride homeostasis; positive regu | 20q13.12 |
| HNF4G | regulation of transcription from RNA polymerase II promoter; gene expression; endocrine pancreas development; positive regulation of transcription, DNA-dependent | 8q21.11 |
| HNMT | respiratory gaseous exchange; brain development; hyperosmotic response; response to stress; response to tumor cell; response to cocaine; response to glucocorticoid stimulus; response to interleukin-1; response to amine stimulus | 2q22.1 |
| HNRNPA0 | nuclear mRNA splicing, via spliceosome; mRNA processing; 3'-UTR-mediated mRNA stabilization; response to lipopolysaccharide; gene expression; RNA splicing; inflammatory response | 5q31 |
| HNRNPA1 | nuclear import; nuclear export; mRNA transport; interspecies interaction between organisms; gene expression; RNA splicing; transport; RNA export from nucleus; mRNA processing; nuclear mRNA splicing, via spliceosome; alternative nuclear mRNA splicing, via spliceosome | 12q13.1 |
| HNRNPA1L2 | transport; mRNA processing; RNA splicing; mRNA 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 splicing; nuclear mRNA splicing, via spliceosome; mRNA processing; gene expression; RNA transport | 7p15 |
| HNRNPA3 | gene expression; nuclear mRNA splicing, via spliceosome; RNA splicing; mRNA transport | 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; RNA splicing; gene expression | 14q11.2 |
| HNRNPCL1 | - | 1p36.21 |
| HNRNPCP1 | - | 14q23.1 |
| HNRNPCP10 | - | Xq27.3 |
| HNRNPCP2 | - | - |
| HNRNPCP3 | - | 15q25.1 |
| HNRNPCP4 | - | - |
| HNRNPCP6 | - | - |
| HNRNPCP7 | - | 7q11.21 |
| HNRNPCP8 | - | 11q14.2 |
| HNRNPD | RNA metabolic process; gene expression; RNA splicing; RNA catabolic process; RNA processing; regulation of transcription, DNA-dependent; nuclear mRNA splicing, via spliceosome; mRNA stabilization; positive regulation of transcription, DNA-dependent; mRNA metabolic process | 4q21 |
| HNRNPDL | - | 4q21.22 |
| HNRNPDLP2 | - | 2q24.1 |
| HNRNPDP1 | - | Xq11.1 |
| HNRNPF | regulation of RNA splicing; gene expression; RNA splicing; RNA processing; nuclear mRNA splicing, via spliceosome | 10q11.21 |
| HNRNPFP1 | - | 1p34.2 |
| HNRNPH1 | RNA processing; nuclear mRNA splicing, via spliceosome; regulation of RNA splicing; gene expression; RNA splicing | 5q35.3 |
| HNRNPH1P1 | - | 6q25.3 |
| HNRNPH1P2 | - | Xq27.3 |
| HNRNPH1P3 | - | 5q11.2 |
| HNRNPH3 | RNA processing; RNA splicing; nuclear mRNA splicing, via spliceosome | 10q22 |
| HNRNPK | 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; RNA processing; nuclear mRNA splicing, via spliceosome; positive regulation of receptor-mediated endocytosis; regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter | 9q21.32-q21.33 |
| HNRNPKP1 | - | 5q23.2 |
| HNRNPKP2 | - | 2q22.1 |
| HNRNPKP3 | - | 11p12 |
| HNRNPKP4 | - | 3q11.2 |
| HNRNPL | gene expression; RNA splicing; RNA processing; nuclear mRNA splicing, via spliceosome | 19q13.2 |
| HNRNPLL | - | 2p22.1 |
| HNRNPLP1 | - | 6p24.3 |
| HNRNPLP2 | - | 15q14 |
| HNRNPM | RNA splicing; gene expression; nuclear mRNA splicing, via spliceosome; alternative nuclear mRNA splicing, via spliceosome | 19p13.2 |
| HNRNPR | gene expression; RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome | 1p36.12 |
| HNRNPRP1 | - | 10p12.31 |
| HNRNPU | nuclear mRNA splicing, via spliceosome; CRD-mediated mRNA stabilization; gene expression; RNA splicing; RNA processing | 1q44 |
| HNRNPU-AS1 | - | 1q44 |
| HNRNPUL1 | nuclear mRNA splicing, via spliceosome; regulation of transcription, DNA-dependent; RNA processing; RNA splicing; response to virus; gene expression | 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 | early endosome to late endosome transport; spermatid development; cell differentiation; protein transport; microtubule cytoskeleton organization; endosome organization; lysosome organization; multicellular organismal development; spermatogenesis; endosome to lysosome transport | 1p32.1 |
| HOOK2 | endosome organization; endocytosis; microtubule cytoskeleton organization; lysosome organization; protein transport; early endosome to late endosome transport; endosome to lysosome transport | 19p13.2 |
| HOOK3 | microtubule anchoring; endosome organization; lysosome organization; endosome to lysosome transport; protein transport; interkinetic nuclear migration; cytoplasmic microtubule organization; microtubule anchoring at centrosome; protein localization to centrosome; Golgi localization; negative regulation of neurogenesis; early endosome to late endosome transport | 8p11.21 |
| HOPX | multicellular organismal development; negative regulation of cell differentiation; trophectodermal cell differentiation | 4q12 |
| HORMAD1 | meiosis; oogenesis; meiotic DNA double-strand break formation; meiotic sister chromatid cohesion; cell differentiation; regulation of homologous chromosome segregation; synaptonemal complex assembly; blastocyst development; meiotic recombination checkpoint; spermatogenesis | 1q21.3 |
| HORMAD2 | meiosis | 22q12.2 |
| HOTAIR | - | 12q13.13 |
| HOTAIRM1 | - | 7p15.2 |
| HOTTIP | - | 7p15.2 |
| HOXA-AS2 | - | 7p15.2 |
| HOXA-AS3 | - | 7p15.2 |
| HOXA1 | inner ear development; cochlea development; semicircular canal formation; artery development; neuromuscular process; cognition; regulation of behavior; artery morphogenesis; anatomical structure morphogenesis; 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; hindbrain development; motor axon guidance; optokinetic behavior; sensory perception of sound; nervous system development; multicellular organismal development; outer ear morphogenesis; embryonic neurocranium morphogenesis; positive regulation of transcription from RNA polymerase II promoter; cochlea morphogenesis | 7p15.3 |
| HOXA10 | skeletal system development; multicellular organismal development; spermatogenesis; anterior/posterior pattern specification; proximal/distal pattern formation; embryonic limb morphogenesis | 7p15.2 |
| HOXA11 | branching involved in ureteric bud morphogenesis; cartilage development involved in endochondral bone morphogenesis; developmental growth; positive regulation of transcription, DNA-dependent; skeletal system development; embryonic digit morphogenesis; positive regulation of chondrocyte differentiation; embryonic limb 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; metanephros development | 7p15.2 |
| HOXA11-AS | - | 7p15.2 |
| HOXA13 | positive regulation of transcription from RNA polymerase II promoter; positive regulation of mitosis; ventricular septum development; positive regulation of apoptotic process; embryonic hindgut morphogenesis; inner ear development; artery morphogenesis; branching involved in prostate gland morphogenesis; endothelial cell fate specification; male genitalia development; vasculogenesis; endothelial cell morphogenesis; tissue homeostasis; multicellular organismal development; skeletal system development; embryonic forelimb morphogenesis; organ morphogenesis; regulation of BMP signaling pathway | 7p15.2 |
| HOXA2 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of neuron differentiation; middle ear morphogenesis; brain segmentation; rhombomere 3 morphogenesis; rhombomere 2 development; dorsal/ventral pattern formation; anterior/posterior pattern specification; motor axon guidance; embryonic skeletal system morphogenesis; embryonic viscerocranium morphogenesis; osteoblast development; cell fate determination; negative regulation of transcription from RNA polymerase II promoter; segment specification | 7p15.2 |
| HOXA3 | thymus development; parathyroid gland development; cartilage development; embryonic skeletal system morphogenesis; organ formation; thyroid gland development; glossopharyngeal nerve morphogenesis; specification of organ position; anterior/posterior pattern specification; positive regulation of cell proliferation; multicellular organismal development; angiogenesis; blood vessel remodeling | 7p15.2 |
| HOXA4 | anatomical structure morphogenesis; multicellular organismal development | 7p15.2 |
| HOXA5 | anterior/posterior pattern specification; embryonic skeletal system morphogenesis; 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; negative regulation of erythrocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; lung alveolus development; pattern specification process; respiratory system process; morphogenesis of an epithelium; cell-cell signaling involved in mammary gland development; mammary gland alveolus development; mammary gland epithelial cell differentiation; mesenchymal-epithelial cell signaling; intestinal epithelial cell maturation; trachea cartilage morphogenesis; lung-associated mesenchyme development; lung goblet cell differentiation; epithelial tube branching involved in lung morphogenesi | 7p15.2 |
| HOXA6 | embryonic skeletal system morphogenesis; anterior/posterior pattern specification; multicellular organismal development | 7p15.2 |
| HOXA7 | negative regulation of keratinocyte differentiation; anterior/posterior pattern specification; multicellular organismal development; negative regulation of leukocyte migration; negative regulation of cell-matrix adhesion; angiogenesis; negative regulation of transcription from RNA polymerase II promoter; negative regulation of monocyte differentiation; negative regulation of transcription, DNA-dependent; stem cell differentiation; embryonic skeletal system morphogenesis; positive regulation of transcription from RNA polymerase II promoter | 7p15.2 |
| HOXA9 | proximal/distal pattern formation; mammary gland development; embryonic forelimb morphogenesis; embryonic skeletal system development; definitive hemopoiesis; anterior/posterior pattern specification; multicellular organismal development | 7p15.2 |
| HOXB-AS1 | - | - |
| HOXB-AS3 | - | 17q21.32 |
| HOXB-AS4 | - | - |
| HOXB1 | pattern specification process; embryonic skeletal system morphogenesis; multicellular organismal development; regulation of transcription, DNA-dependent; 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 | 17q21.3 |
| HOXB13 | 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; morphogenesis of an epithelium; angiogenesis | 17q21.2 |
| HOXB2 | neural nucleus development; embryonic skeletal system morphogenesis; rhombomere 4 development; rhombomere 3 development; dorsal/ventral pattern formation; facial nerve structural organization; anterior/posterior pattern specification; blood circulation; multicellular organismal development; morphogenesis of an epithelial sheet | 17q21.32 |
| HOXB3 | thyroid gland development; glossopharyngeal nerve morphogenesis; anterior/posterior pattern specification; multicellular organismal development; angiogenesis; definitive hemopoiesis; cartilage development; embryonic skeletal system morphogenesis | 17q21.3 |
| HOXB4 | morphogenesis of an epithelial sheet; bone marrow development; regulation of transcription, DNA-dependent; multicellular organismal development; cell proliferation; anterior/posterior pattern specification; somatic stem cell division; spleen development; embryonic skeletal system morphogenesis; definitive hemopoiesis; negative regulation of transcription from RNA polymerase II promoter | 17q21.32 |
| HOXB5 | embryonic skeletal system morphogenesis; endothelial cell differentiation; anterior/posterior pattern specification; anatomical structure morphogenesis; multicellular organismal development | 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 | multicellular organismal development; embryonic skeletal system morphogenesis; positive regulation of branching involved in ureteric bud morphogenesis; myeloid cell differentiation; anterior/posterior pattern specification; regulation of transcription, DNA-dependent | 17q21.3 |
| HOXB8 | adult locomotory behavior; anterior/posterior pattern specification; sensory perception of pain; dorsal spinal cord development; embryonic skeletal system morphogenesis; grooming behavior; multicellular organismal development; regulation of transcription, DNA-dependent | 17q21.3 |
| HOXB9 | anterior/posterior pattern specification; canonical Wnt receptor signaling pathway; embryonic skeletal system development; positive regulation of transcription from RNA polymerase II promoter; mammary gland development; multicellular organismal development; regulation of transcription, DNA-dependent; cell chemotaxis | 17q21.3 |
| HOXC-AS2 | - | - |
| HOXC-AS3 | - | - |
| HOXC10 | proximal/distal pattern formation; anterior/posterior pattern specification; positive regulation of cell proliferation; multicellular organismal development; skeletal system development; spinal cord motor neuron cell fate specification; embryonic limb morphogenesis; neuromuscular process | 12q13.3 |
| HOXC11 | endoderm development; multicellular organismal development | 12q13.3 |
| HOXC12 | multicellular organismal development | 12q13.13 |
| HOXC13 | hair follicle development; regulation of transcription, DNA-dependent; multicellular organismal development; anatomical structure morphogenesis; anterior/posterior pattern specification; tongue morphogenesis | 12q13.3 |
| HOXC13-AS | - | - |
| HOXC4 | cartilage development; multicellular organismal development; regulation of transcription, DNA-dependent; anterior/posterior pattern specification; embryonic organ morphogenesis | 12q13.3 |
| HOXC5 | regulation of transcription from RNA polymerase II promoter; multicellular organismal development; embryonic skeletal system development; anterior/posterior pattern specification | 12q13.3 |
| HOXC6 | embryonic skeletal system development; anterior/posterior pattern specification; multicellular organismal development; regulation of transcription from RNA polymerase II promoter | 12q13.3 |
| HOXC8 | skeletal system morphogenesis; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; anterior/posterior pattern specification; neuron differentiation | 12q13.3 |
| HOXC9 | multicellular organismal development | 12q13.3 |
| HOXD-AS2 | - | 2q31.1 |
| HOXD1 | multicellular organismal development; embryonic skeletal system development | 2q31.1 |
| HOXD10 | forelimb morphogenesis; hindlimb morphogenesis; positive regulation of transcription from RNA polymerase II promoter; embryonic skeletal system morphogenesis; peripheral nervous system neuron development; neuromuscular process; embryonic limb morphogenesis; spinal cord motor neuron cell fate specification; proximal/distal pattern formation; anterior/posterior pattern specification; adult locomotory behavior; skeletal muscle tissue development; multicellular organismal development; skeletal system development | 2q31.1 |
| HOXD11 | positive regulation of cell development; skeletal system development; metanephros development; branching involved in ureteric bud morphogenesis; organ induction; regulation of transcription, DNA-dependent; pattern specification process; proximal/distal pattern formation; anterior/posterior pattern specification; dorsal/ventral pattern formation; embryonic digit morphogenesis; developmental growth; cartilage development involved in endochondral bone morphogenesis; positive regulation of chondrocyte differentiation | 2q31.1 |
| HOXD12 | embryonic digit morphogenesis; pattern specification process; multicellular organismal development; regulation of transcription, DNA-dependent; skeletal system development | 2q31.1 |
| HOXD13 | pattern specification process; regulation of branching involved in prostate gland morphogenesis; branch elongation of an epithelium; morphogenesis of an epithelial fold; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis; embryonic hindgut morphogenesis; positive regulation of transcription from RNA polymerase II promoter; embryonic digit morphogenesis; regulation of cell proliferation; male genitalia development; gland morphogenesis; anterior/posterior pattern specification; multicellular organismal development; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; skeletal system development | 2q31.1 |
| HOXD3 | thyroid gland development; positive regulation of gene expression; anterior/posterior pattern specification; multicellular organismal development; Notch signaling pathway; cell-matrix adhesion; transcription, DNA-dependent; positive regulation of neuron differentiation; embryonic skeletal system morphogenesis; cartilage development | 2q31.1 |
| HOXD4 | regulation of transcription, DNA-dependent; multicellular organismal development; anterior/posterior pattern specification; embryonic skeletal system morphogenesis; stem cell differentiation | 2q31.1 |
| HOXD8 | multicellular organismal development; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; anterior/posterior axis specification, embryo; anterior/posterior pattern specification; skeletal system morphogenesis | 2q31.1 |
| HOXD9 | peripheral nervous system neuron development; embryonic skeletal system morphogenesis; skeletal muscle tissue development; adult locomotory behavior; anterior/posterior pattern specification; positive regulation of transcription from RNA polymerase II promoter; multicellular organismal development; hindlimb morphogenesis; embryonic forelimb morphogenesis; mammary gland development; proximal/distal pattern formation | 2q31.1 |
| HP | cellular iron ion homeostasis; defense response; 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 | tyrosine catabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; aromatic amino acid family metabolic process; L-phenylalanine catabolic process | 12q24-qter |
| HPDL | aromatic amino acid family metabolic process | 1p34.1 |
| HPGD | female pregnancy; ductus arteriosus closure; thrombin receptor signaling pathway; ovulation; lipoxygenase pathway; lipid metabolic process; fatty acid metabolic process; prostaglandin metabolic process; transforming growth factor beta receptor signaling pathway; parturition; negative regulation of cell cycle | 4q34-q35 |
| HPGDS | locomotory behavior; signal transduction; prostaglandin biosynthetic process; prostaglandin metabolic process; fatty acid biosynthetic process | 4q22.3 |
| HPN | positive regulation of hepatocyte proliferation; positive regulation of thyroid hormone generation; pilomotor reflex; response to thyroid hormone stimulus; cochlea morphogenesis; potassium ion transmembrane transport; negative regulation of epithelial cell proliferation; detection of mechanical stimulus involved in sensory perception of sound; proteolysis; regulation of cell shape; positive regulation of gene expression; negative regulation of epithelial to mesenchymal transition; positive regulation of plasminogen activation; positive regulation of cell growth; basement membrane disassembly; negative regulation of apoptotic process; positive regulation by host of viral transcription | 19q13.12 |
| HPN-AS1 | - | 19q13.12 |
| HPR | - | 16q22.1 |
| HPRT1 | hypoxanthine salvage; small molecule metabolic process; positive regulation of dopamine metabolic process; GMP catabolic process; IMP metabolic process; adenine metabolic process; hypoxanthine metabolic process; lymphocyte proliferation; dendrite morphogenesis; protein homotetramerization; nucleobase-containing small molecule metabolic process; IMP salvage; purine-containing compound salvage; adenine salvage; guanine salvage; purine ribonucleoside salvage; purine nucleotide biosynthetic process; purine base metabolic process; response to amphetamine; spermatogenesis; behavior; nucleoside metabolic process; glucose 1-phosphate metabolic process; grooming behavior; cytolysis; striatum development; cerebral cortex neuron differentiation; central nervous system neuron development; GMP salvage | Xq26.1 |
| HPS1 | eye pigmentation; retina development in camera-type eye; response to stimulus; pigmentation; secretion of lysosomal enzymes; positive regulation of natural killer cell activation; melanocyte differentiation; visual perception; blood coagulation; lysosome organization; organelle organization | 10q23.1-q23.3 |
| HPS3 | organelle organization; pigmentation | 3q24 |
| HPS4 | organelle organization; hemostasis; blood coagulation; lysosome organization; positive regulation of eye pigmentation; protein stabilization; protein targeting; melanocyte differentiation | 22cen-q12.3 |
| HPS5 | pigmentation; blood coagulation; organelle organization | 11p14 |
| HPS6 | organelle organization; pigmentation; melanocyte differentiation; blood coagulation | 10q24.32 |
| HPSE | vascular wound healing; carbohydrate metabolic process; proteoglycan metabolic process; cell adhesion; cell-matrix adhesion; positive regulation vascular endothelial growth factor production; positive regulation of blood coagulation; positive regulation of osteoblast proliferation; regulation of hair follicle development; positive regulation of hair follicle development; positive regulation of protein kinase B signaling cascade | 4q21.3 |
| HPSE2 | carbohydrate metabolic process | 10q23-q24 |
| HPX | regulation of protein metabolic process; positive regulation of interferon-gamma-mediated signaling pathway; interspecies interaction between organisms; heme metabolic process; hemoglobin metabolic process; heme transport; cellular iron ion homeostasis; transport; positive regulation of humoral immune response mediated by circulating immunoglobulin; positive regulation of immunoglobulin production; positive regulation of tyrosine phosphorylation of Stat1 protein | 11p15.5-p15.4 |
| HR | regulation of transcription, DNA-dependent; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of transcription, DNA-dependent; protein heterooligomerization | 8p21.2 |
| HRAS | positive regulation of transcription from RNA polymerase II promoter; leukocyte migration; positive regulation of DNA replication; negative regulation of neuron apoptosis; social behavior; positive regulation of Rac protein signal transduction; regulation of synaptic transmission, GABAergic; mitotic cell cycle G1/S transition checkpoint; actin cytoskeleton organization; positive regulation of JNK cascade; nerve growth factor receptor signaling pathway; regulation of long-term neuronal synaptic plasticity; positive regulation of epithelial cell proliferation; striated muscle cell differentiation; positive regulation of ERK1 and ERK2 cascade; cellular senescence; positive regulation of MAPK cascade; cell surface receptor signaling pathway; organ morphogenesis; chemotaxis; apoptotic process; endocytosis; positive regulation of protein phosphorylation; activation of MAPKK activity; cell cycle arrest; signal transduction; epidermal growth factor receptor signaling pathway; small GTPase mediated signal transduction | 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; negative regulation of fibrinolysis; defense response to fungus; fibrinolysis; regulation of blood coagulation; platelet activation; blood coagulation; platelet degranulation; negative regulation of angiogenesis | 3q27 |
| HRH1 | inflammatory 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; synaptic transmission; response to gravity; negative regulation of steroid biosynthetic process; positive regulation of nitric oxide biosynthetic process; positive regulation of vasoconstriction | 3p25 |
| HRH2 | G-protein signaling, coupled to cyclic nucleotide second messenger; immune response | 5q35.2 |
| HRH3 | G-protein signaling, coupled to cyclic nucleotide second messenger; neurotransmitter secretion | 20q13.33 |
| HRH4 | inflammatory response | 18q11.2 |
| HRK | induction of apoptosis; negative regulation of survival gene product expression; positive regulation of protein homooligomerization; positive regulation of apoptotic process; positive regulation of neuron apoptosis; positive regulation of release of cytochrome c from mitochondria; cellular response to potassium ion starvation | 12q24.22 |
| HRNR | tryptophan metabolic process; keratinization; multicellular organismal development | 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, enzymatic modification; heparan sulfate proteoglycan biosynthetic process | 17p12 |
| HS3ST4 | heparan sulfate proteoglycan metabolic process | 16p11.2 |
| HS3ST5 | protein sulfation; heparan sulfate proteoglycan biosynthetic process, enzymatic modification; regulation of virion penetration into host cell; negative regulation of coagulation | 6q21 |
| HS6ST1 | labyrinthine layer blood vessel development; lung alveolus development; heparan sulfate proteoglycan biosynthetic process, enzymatic modification; angiogenesis | 2q21 |
| HS6ST1P1 | - | 1p36.12 |
| HS6ST2 | - | Xq26.2 |
| HS6ST2-AS1 | - | - |
| HS6ST3 | - | 13q32.1 |
| HSBP1 | muscle contraction; negative regulation of transcription from RNA polymerase II promoter | 16q23.3 |
| HSBP1L1 | viral envelope fusion with host membrane | 18q23 |
| HSBP1P1 | - | 14q23.1 |
| HSCB | iron-sulfur cluster assembly; protein folding | 22q12.1 |
| HSD11B1 | small molecule metabolic process; lung development; steroid metabolic process; glucocorticoid biosynthetic process | 1q32-q41 |
| HSD11B1L | - | 19p13.3 |
| HSD11B2 | response to food; female pregnancy; glucocorticoid biosynthetic process; regulation of blood volume by renal aldosterone; response to hypoxia; response to insulin stimulus; response to drug; response to steroid hormone stimulus; response to glucocorticoid stimulus | 16q22 |
| HSD17B1 | steroid biosynthetic process; estrogen biosynthetic process; steroid metabolic process; estrogen metabolic process; small molecule metabolic process | 17q11-q21 |
| HSD17B10 | protein homotetramerization; small molecule metabolic process; cellular nitrogen compound metabolic process; Leydig cell differentiation; branched chain family amino acid catabolic process; tRNA processing; cell aging; lipid metabolic process | Xp11.2 |
| HSD17B11 | steroid biosynthetic process; androgen catabolic process | 4q22.1 |
| HSD17B12 | small molecule metabolic process; steroid biosynthetic process; cellular lipid metabolic process; positive regulation of cell-substrate adhesion; triglyceride biosynthetic process; extracellular matrix organization; long-chain fatty-acyl-CoA biosynthetic process | 11p11.2 |
| HSD17B13 | - | 4q22.1 |
| HSD17B14 | steroid catabolic process | 19q13.33 |
| HSD17B2 | cellular response to metal ion; androgen biosynthetic process; estrogen biosynthetic process; response to retinoic acid; bone development | 16q24.1-q24.2 |
| HSD17B3 | response to arsenic-containing substance; cellular response to gonadotropin stimulus; cellular response to antibiotic; response to fatty acid; response to fungicide; response to corticosterone stimulus; response to cadmium ion; response to ethanol; small molecule metabolic process; response to estrogen stimulus; response to L-ascorbic acid; response to activity; Leydig cell differentiation; organic acid metabolic process; androgen biosynthetic process; steroid metabolic process; response to herbicide; response to lead ion; response to organic cyclic compound; insecticide metabolic process; biphenyl metabolic process; phenol-containing compound metabolic process; hippocampus development; male genitalia development; response to nutrient levels; response to vitamin E | 9q22 |
| HSD17B4 | bile acid metabolic process; small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; bile acid biosynthetic process; fatty acid metabolic process; sterol transport | 5q21 |
| HSD17B6 | steroid metabolic process; androgen catabolic process; androgen biosynthetic process; oxidation-reduction process | 12q13 |
| HSD17B7 | cholesterol biosynthetic process; small molecule metabolic process; steroid biosynthetic process | 1q23 |
| HSD17B7P2 | - | 10p11.1 |
| HSD17B8 | fatty acid biosynthetic process; estrogen biosynthetic process; androgen metabolic process | 6p21.3 |
| HSD3B1 | mineralocorticoid biosynthetic process; small molecule metabolic process; steroid metabolic process; glucocorticoid biosynthetic process; estrogen biosynthetic process; androgen biosynthetic process; steroid biosynthetic process | 1p13.1 |
| HSD3B2 | oxidation-reduction process; steroid biosynthetic process; androgen biosynthetic process; glucocorticoid biosynthetic process; mineralocorticoid biosynthetic process; steroid metabolic process; small molecule metabolic process | 1p13.1 |
| HSD3B7 | bile acid metabolic process; regulation of cell growth; steroid biosynthetic process; bile acid biosynthetic process; small molecule metabolic process; oxidation-reduction process | 16p11.2 |
| HSD3BP4 | - | 1p13.1 |
| HSD3BP5 | - | 1p13.1 |
| HSDL1 | - | 16q23.3 |
| HSDL2 | - | 9q32 |
| HSF1 | embryonic placenta development; 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; regulation of transcription, DNA-dependent; protein phosphorylation | 8q24.3 |
| HSF2 | spermatogenesis; response to stress; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 6q22.31 |
| HSF2BP | spermatogenesis; transcription from RNA polymerase II promoter | 21q22.3 |
| HSF4 | negative regulation of transcription from RNA polymerase II promoter; protein homotrimerization; cell development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell differentiation; camera-type eye development; histone H3-K9 demethylation; positive regulation of cell proliferation; response to stress; regulation of transcription, DNA-dependent | 16q21 |
| HSF5 | - | 17q22 |
| HSFX1 | - | Xq28 |
| HSFX2 | - | Xq28 |
| HSFY1P1 | - | - |
| HSFY3P | - | Yp11.31 |
| HSH2D | T cell activation | 19p13.12 |
| HSP90AA1 | G2/M transition of mitotic cell cycle; chaperone-mediated protein complex assembly; regulation of nitric-oxide synthase activity; nitric oxide metabolic process; positive regulation of nitric oxide biosynthetic process; protein import into mitochondrial outer membrane; small molecule metabolic process; protein refolding; axon guidance; signal transduction; response to unfolded protein; response to stress; mitochondrial transport; protein folding; ATP catabolic process; mitotic cell cycle | 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 | positive regulation of nitric oxide biosynthetic process; placenta development; regulation of interferon-gamma-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; innate immune response; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; axon guidance; response to unfolded protein; response to stress; protein folding | 6p12 |
| HSP90AB2P | response to stress; protein folding | 4p15.33 |
| HSP90AB3P | protein folding; response to stress | 4q22.1 |
| HSP90AB4P | response to stress; protein folding | 15q22.1 |
| HSP90AB5P | - | 3p13 |
| HSP90AB6P | - | 13q32.1 |
| HSP90AB7P | - | 10p14 |
| HSP90B1 | regulation of phosphoprotein phosphatase activity; actin rod assembly; endoplasmic reticulum unfolded protein response; ER-associated protein catabolic process; protein transport; activation of signaling protein activity involved in unfolded protein response; response to stress; sequestering of calcium ion; anti-apoptosis; response to hypoxia; protein folding; cellular response to ATP | 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 | gene expression; negative regulation of inclusion body assembly; protein refolding; negative regulation of cell growth; mRNA metabolic process; RNA metabolic process; negative regulation of cell proliferation; response to unfolded protein; response to stress; anti-apoptosis; mRNA catabolic process | 6p21.3 |
| HSPA1L | response to unfolded protein; response to stress | 6p21.3 |
| HSPA2 | response to unfolded protein; male meiosis; male meiosis I; spermatid development; positive regulation of cyclin-dependent protein kinase activity involved in G2/M; synaptonemal complex disassembly; response to stress; positive regulation of protein phosphorylation | 14q24.1 |
| HSPA4 | protein import into mitochondrial outer membrane; response to stress; response to unfolded protein; response to heat; positive regulation of protein binding; chaperone-mediated protein complex assembly | 5q31.1 |
| HSPA4L | protein folding; response to stress; response to unfolded protein | 4q28 |
| HSPA5 | regulation of protein folding in endoplasmic reticulum; activation of signaling protein activity involved in unfolded protein response; 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; platelet degranulation; ATP catabolic process; anti-apoptosis; ER overload response; blood coagulation; cerebellum structural organization; cerebellar Purkinje cell layer development; platelet activation; ER-associated protein catabolic process; negative regulation of transforming growth factor beta receptor signaling pathway; endoplasmic reticulum unfolded protein response; positive regulation of protein ubiquitination | 9q33.3 |
| HSPA6 | response to stress; response to unfolded protein | 1q23 |
| HSPA8 | negative regulation of transcription, DNA-dependent; response to stress; response to unfolded protein; synaptic transmission; neurotransmitter secretion; gene expression; cellular membrane organization; RNA metabolic process; mRNA metabolic process; interspecies interaction between organisms; post-Golgi vesicle-mediated transport; protein folding | 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 | positive regulation of interleukin-1 beta production; mRNA metabolic process; regulation of translational initiation; endothelial cell chemotaxis; cellular response to vascular endothelial growth factor stimulus; negative regulation of phosphorylation; positive regulation of tumor necrosis factor biosynthetic process; negative regulation of apoptotic process; regulation of I-kappaB kinase/NF-kappaB cascade; blood vessel endothelial cell migration; negative regulation of protein serine/threonine kinase activity; angiogenesis; RNA metabolic process; gene expression; response to virus; cell death; response to unfolded protein; response to stress; cellular component movement; anti-apoptosis; negative regulation of protein kinase activity | 7q11.23 |
| HSPB11 | cell adhesion; response to stress | 1p32 |
| HSPB1P1 | - | 9q21.13 |
| HSPB1P2 | - | Xp11.23 |
| HSPB2 | positive regulation of catalytic activity; response to heat; somatic muscle development; response to unfolded protein | 11q22-q23 |
| HSPB3 | response to stress; response to unfolded protein; cell death | 5q11.2 |
| HSPB6 | response to stress; regulation of muscle contraction | 19q13.12 |
| HSPB7 | response to stress; response to heat; regulation of heart contraction; response to unfolded protein | 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 | isotype switching to IgG isotypes; protein stabilization; positive regulation of T cell activation; chaperone-mediated protein complex assembly; protein maturation; MyD88-dependent toll-like receptor signaling pathway; B cell cytokine production; protein refolding; 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-alpha production; positive regulation of interferon-gamma production; positive regulation of interleukin-10 production; positive regulation of interleukin-12 production; positive regulation of interleukin-6 production; interspecies interaction between organisms; B cell proliferation; T cell activation; B cell activation; positive regulation of macrophage activation; positive regulation of apoptotic process; negative regulation of apoptotic process | 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 | response to unfolded protein; response to stress; activation of cysteine-type endopeptidase activity involved in apoptotic process; protein folding | 2q33.1 |
| HSPE1P2 | - | 14q23.2 |
| HSPG2 | angiogenesis; cartilage development involved in endochondral bone morphogenesis; cardiac muscle tissue development; embryonic skeletal system morphogenesis; small molecule metabolic process; lipoprotein metabolic process; extracellular matrix organization; protein localization; brain development; lipid metabolic process; chondrocyte differentiation; endochondral ossification | 1p36.1-p34 |
| HSPH1 | positive regulation of NK T cell activation; chaperone mediated protein folding requiring cofactor; positive regulation of MHC class I biosynthetic process; response to unfolded protein; response to stress | 13q12.3 |
| HTATIP2 | induction of apoptosis; nuclear import; regulation of angiogenesis; interspecies interaction between organisms; regulation of apoptotic process; regulation of transcription from RNA polymerase II promoter; anti-apoptosis; multicellular organismal development; cell differentiation | 11p15.1 |
| HTATSF1 | regulation of transcription elongation, DNA-dependent; regulation of transcription from RNA polymerase II promoter; viral genome replication | Xq26.3 |
| HTATSF1P2 | - | 6p25.2 |
| HTN1 | defense response to bacterium; defense response to fungus; killing of cells of other organism; biomineral tissue development | 4q13 |
| HTN3 | biomineral tissue development; defense response to fungus; defense response to bacterium; killing of cells of other organism | 4q13 |
| HTR1A | behavior; positive regulation of cell proliferation; regulation of feeding behavior; serotonin receptor signaling pathway; inhibition of adenylate cyclase activity by serotonin receptor signaling pathway; G-protein coupled receptor signaling pathway | 5q11.2-q13 |
| HTR1B | synaptic transmission; G-protein coupled receptor internalization; G-protein coupled receptor signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; serotonin receptor signaling pathway; response to toxin; regulation of dopamine secretion; negative regulation of cAMP biosynthetic process; negative regulation of synaptic transmission, GABAergic; cellular response to temperature stimulus; negative regulation of synaptic transmission, glutamatergic; response to mineralocorticoid stimulus; bone remodeling; response to ethanol; drinking behavior; response to drug; response to cocaine | 6q13 |
| HTR1D | synaptic transmission; G-protein signaling, coupled to cyclic nucleotide second messenger; intestine smooth muscle contraction; response to toxin; serotonin receptor signaling pathway | 1p36.3-p34.3 |
| HTR1E | serotonin receptor signaling pathway; synaptic transmission; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor signaling pathway | 6q14-q15 |
| HTR1F | synaptic transmission; serotonin receptor signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger | 3p12 |
| HTR2A | regulation of dopamine secretion; ERK1 and ERK2 cascade; negative regulation of synaptic transmission, glutamatergic; release of sequestered calcium ion into cytosol; positive regulation of MAP kinase activity; sleep; sensory perception of pain; phosphatidylinositol 3-kinase cascade; positive regulation of cell proliferation; cell death; memory; aging; synaptic transmission; serotonin receptor signaling pathway; activation of phospholipase C activity by serotonin receptor signaling pathway; response to stress; phosphatidylinositol biosynthetic process; positive regulation of vasoconstriction; temperature homeostasis; negative regulation of potassium ion transport; response to drug | 13q14-q21 |
| HTR2B | ERK1 and ERK2 cascade; negative regulation of autophagy; protein kinase C signaling cascade; calcium ion transmembrane transport; cellular response to calcium ion; cellular response to temperature stimulus; serotonin receptor signaling pathway; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; G-protein coupled receptor signaling pathway; phosphatidylinositol biosynthetic process; cGMP biosynthetic process; cardiac muscle hypertrophy; heart morphogenesis; G-protein coupled receptor internalization; positive regulation of endothelial cell proliferation; positive regulation of cytokine production; neural crest cell migration; positive regulation of cell division; positive regulation of cell proliferation; neural crest cell differentiation; phosphatidylinositol 3-kinase cascade; intestine smooth muscle contraction; phosphorylation; calcium-mediated signaling; positive regulation of Ras GTPase activity; vasoconstriction; response to drug; negative regulation of apopt | 2q36.3-q37.1 |
| HTR2C | ERK1 and ERK2 cascade; release of sequestered calcium ion into cytosol; response to drug; feeding behavior; synaptic transmission; serotonin receptor signaling pathway; phosphatidylinositol biosynthetic process; cGMP biosynthetic process | Xq24 |
| HTR3A | ion transport; transmembrane transport; ion transmembrane transport; digestion; synaptic transmission; serotonin receptor signaling pathway; transport | 11q23.1 |
| HTR3B | cellular response to growth factor stimulus; transmembrane transport; ion transmembrane transport; synaptic transmission; serotonin receptor signaling pathway; cation transport; transport | 11q23.1 |
| HTR3C | transmembrane transport; ion transmembrane transport | 3q27.1 |
| HTR3D | transmembrane transport; ion transmembrane transport | 3q27.1 |
| HTR3E | ion transmembrane transport; transmembrane transport | 3q27.1 |
| HTR4 | activation of adenylate cyclase activity by G-protein signaling pathway; serotonin receptor signaling pathway; gamma-aminobutyric acid signaling pathway; positive regulation of cell proliferation; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor signaling pathway | 5q31-q33 |
| HTR5A | G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor signaling pathway; response to estradiol stimulus; hippocampus development; cAMP-mediated signaling; brain development; serotonin receptor signaling pathway | 7q36.1 |
| HTR5BP | - | 2q14.1 |
| HTR6 | synaptic transmission; G-protein signaling, coupled to cyclic nucleotide second messenger | 1p36-p35 |
| HTR7 | circadian rhythm; blood circulation; synaptic transmission; serotonin receptor signaling pathway; activation of adenylate cyclase activity by serotonin receptor signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger | 10q21-q24 |
| HTR7P1 | - | 12p13.1 |
| HTRA1 | regulation of cell growth; proteolysis; negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of BMP signaling pathway | 10q26.3 |
| HTRA2 | positive regulation of intrinsic apoptotic signaling pathway; regulation of multicellular organism growth; execution phase of apoptosis; cellular response to growth factor stimulus; neuron development; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of apoptotic process; proteolysis; forebrain development; positive regulation of cell death; induction of apoptosis by intracellular signals; adult walking behavior; cell cycle arrest; mitochondrion organization; response to stress; cleavage of cytoskeletal proteins involved in apoptosis | 2p12 |
| HTRA3 | regulation of cell growth; proteolysis | 4p16.1 |
| HTRA4 | proteolysis; regulation of cell growth | 8p11.22 |
| HTT | cell death; establishment of mitotic spindle orientation; retrograde vesicle-mediated transport, Golgi to ER; apoptotic process; Golgi organization; regulation of protein phosphatase type 2A activity; vesicle transport along microtubule; organ development; negative regulation of extrinsic apoptotic signaling pathway | 4p16.3 |
| HULC | - | 6p24.3 |
| HUNK | signal transduction; multicellular organismal development | 21q22.1 |
| HUS1 | negative regulation of DNA replication; DNA replication; cell cycle checkpoint; double-strand break repair via homologous recombination; DNA damage checkpoint; cellular response to ionizing radiation; mitotic cell cycle G1/S transition checkpoint; embryo development; response to UV; response to DNA damage stimulus; protein phosphorylation; DNA repair | 7p13-p12 |
| HUS1B | - | 6p25.3 |
| HUWE1 | protein polyubiquitination; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; cell differentiation; histone ubiquitination; protein monoubiquitination; base-excision repair; protein modification process | Xp11.22 |
| HVCN1 | ion transport; proton transport; response to zinc ion; response to pH; transmembrane transport | 12q24.11 |
| HYAL1 | positive regulation of angiogenesis; 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; hyaluronan metabolic process; positive regulation of epithelial cell migration; response to virus; negative regulation of cell proliferation; cell death; inflammatory response; carbohydrate metabolic process; positive regulation of cell adhesion; 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 | 3p21.3-p21.2 |
| HYAL2 | entry of virus into host cell; positive regulation of protein import into nucleus; cartilage development; 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 urine volume; negative regulation of protein kinase B signaling cascade; negative regulation of protein tyrosine kinase activity; renal water absorption; cellular response to interleukin-1; cellular response to tumor necrosis factor; negative regulation of cell growth; cellular response to transforming growth factor beta stimulus; cellular response to UV-B; response to virus; glycosaminoglycan catabolic process; carbohydrate metabolic process; translocation of virus into host cell; transformation of host cell by virus; hyaluronan catabolic process | 3p21.3 |
| HYAL3 | response to antibiotic; cartilage development; response to virus; cellular response to interleukin-1; cellular response to tumor necrosis factor; cellular response to UV-B; inflammatory response; hyaluronan catabolic process; carbohydrate metabolic process | 3p21.3 |
| HYAL4 | carbohydrate metabolic process; glycosaminoglycan catabolic 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; endoplasmic reticulum unfolded protein response; activation of signaling protein activity involved in unfolded protein response; response to stress | 11q23.1-q23.3 |
| HYPK | - | 15q15.3 |
| HYPM | - | Xp21.1 |
| IAH1 | lipid catabolic process | 2p25.1 |
| IARS | gene expression; isoleucyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 9q21 |
| IARS2 | gene expression; tRNA aminoacylation for protein translation; isoleucyl-tRNA aminoacylation | 1q41 |
| IBA57 | glycine catabolic process; heme biosynthetic process | 1q42.13 |
| IBSP | biomineral tissue development; cellular response to growth factor stimulus; extracellular matrix organization; cell adhesion; ossification | 4q21.1 |
| IBTK | negative regulation of protein phosphorylation; release of sequestered calcium ion into cytosol; negative regulation of protein tyrosine kinase activity | 6q14.1 |
| IBTKP1 | - | 18q12.3 |
| ICA1 | neurotransmitter transport; regulation of protein homodimerization activity | 7p22 |
| ICA1L | - | 2q33.2 |
| ICAM1 | negative regulation of calcium ion transport; cell adhesion mediated by integrin; cellular response to hypoxia; cellular response to tumor necrosis factor; cellular response to interleukin-1; cellular response to glucose stimulus; cellular response to alkaloid; cellular response to lipopolysaccharide; interferon-gamma-mediated signaling pathway; positive regulation of NF-kappaB transcription factor activity; adhesion to symbiont; interspecies interaction between organisms; positive regulation of nitric oxide biosynthetic process; response to ethanol; positive regulation of vasoconstriction; response to copper ion; virion attachment, binding of host cell surface receptor; regulation of immune response; leukocyte migration; regulation of cell shape; response to amphetamine; regulation of leukocyte mediated cytotoxicity; response to amino acid stimulus; 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 | 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 | cell-cell adhesion; regulation of immune response | 19p13.2-cen |
| ICAM5 | cell-cell adhesion | 19p13.2 |
| ICE1 | - | 5p15.32 |
| ICE2 | - | 15q22.2 |
| ICK | multicellular organismal development; intracellular protein kinase cascade; protein phosphorylation; signal transduction | 6p12.1 |
| ICMT | S-adenosylmethioninamine metabolic process; multicellular organism growth; protein localization; protein targeting to membrane; C-terminal protein methylation; positive regulation of cell proliferation; protein modification process; liver development; in utero embryonic development; S-adenosylhomocysteine metabolic process; 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; T cell costimulation; signal transduction; hyperosmotic response; defense response | 21q22.3 |
| ICT1 | mitochondrial translational termination | 17q25.1 |
| ID1 | 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; protein destabilization; collagen metabolic process; negative regulation of transcription from RNA polymerase II promoter; angiogenesis; endothelial cell morphogenesis; apoptotic process; multicellular organismal development; heart development; negative regulation of transcription by transcription factor localization; BMP signaling pathway; transforming growth factor beta receptor signaling pathway | 20q11 |
| ID2 | neuron fate commitment; positive regulation of smooth muscle cell proliferation; 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 neural precursor cell proliferation; negative regulation of neuron differentiation; positive regulation of astrocyte differentiation; negative regulation of oligodendrocyte differentiation; adipose tissue development; mammary gland alveolus development; epithelial cell differentiation involved in mammary gland alveolus development; endodermal digestive tract morphogenesis; positive regulation of cell cycle arrest; cellular response to lithium ion; positive regulation of transcription involved in G1/S phase of mitotic cell cycle; cellular senescence; regulation of G1/S transition of mitotic cell cy | 2p25 |
| ID2B | - | 3p14.2 |
| ID3 | regulation of cell cycle; negative regulation of transcription, DNA-dependent; negative regulation of osteoblast differentiation; negative regulation of sequence-specific DNA binding transcription factor activity; positive regulation of apoptotic process; odontogenesis; multicellular organismal development; notochord development; epithelial cell differentiation; neuron differentiation; response to wounding; heart development; central nervous system development; regulation of DNA replication; metanephros development; negative regulation of transcription from RNA polymerase II promoter | 1p36.13-p36.12 |
| ID4 | negative regulation of fat cell differentiation; G1/S transition of mitotic cell cycle; cellular protein localization; central nervous system myelination; negative regulation of neuron differentiation; positive regulation of osteoblast differentiation; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of astrocyte differentiation; negative regulation of oligodendrocyte differentiation; hippocampus development; positive regulation of cell proliferation; brain development; neuroblast proliferation; regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; cerebral cortex neuron differentiation | 6p22.3 |
| IDE | negative regulation of proteolysis; proteolysis involved in cellular protein catabolic process; protein heterooligomerization; protein homotetramerization; beta-amyloid metabolic process; interspecies interaction between organisms; hormone catabolic process; sex differentiation; signal transduction; proteolysis; bradykinin catabolic process | 10q23-q25 |
| IDH1 | isocitrate metabolic process; small molecule metabolic process; cellular lipid metabolic process; response to oxidative stress; glutathione metabolic process; NADPH regeneration; 2-oxoglutarate metabolic process; tricarboxylic acid cycle; glyoxylate cycle | 2q33.3 |
| IDH1-AS1 | - | - |
| IDH2 | isocitrate metabolic process; 2-oxoglutarate metabolic process; small molecule metabolic process; carbohydrate metabolic process; glyoxylate cycle; tricarboxylic acid cycle | 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 | tricarboxylic acid cycle; isocitrate metabolic process; 2-oxoglutarate metabolic process; NADH metabolic process; small molecule metabolic process | 20p13 |
| IDH3G | small molecule metabolic process; negative regulation of growth; NADH metabolic process; 2-oxoglutarate metabolic process; tricarboxylic acid cycle; carbohydrate metabolic process; isocitrate metabolic process | Xq28 |
| IDI1 | cholesterol biosynthetic process; isoprenoid biosynthetic process; response to stilbenoid; small molecule metabolic process | 10p15.3 |
| IDI2 | cholesterol biosynthetic process; isoprenoid biosynthetic process; small molecule metabolic process | 10p15.3 |
| IDI2-AS1 | - | 10p15.3 |
| IDNK | carbohydrate metabolic process | 9q21.32 |
| IDO1 | tryptophan catabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; female pregnancy | 8p12-p11 |
| IDO2 | tryptophan catabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; tryptophan catabolic process to kynurenine | 8p11.21 |
| IDS | - | Xq28 |
| IDSP1 | - | Xq27.3-q28 |
| IDUA | cell morphogenesis; carbohydrate metabolic process; disaccharide metabolic process; lysosome organization; limb morphogenesis; chemical homeostasis; skeletal system morphogenesis | 4p16.3 |
| IER2 | - | 19p13.2 |
| IER3 | apoptotic process; positive regulation of protein catabolic process; negative regulation of glycolysis; negative regulation of inflammatory response; regulation of reactive oxygen species metabolic process; positive regulation of apoptotic process; anatomical structure morphogenesis; anti-apoptosis; negative regulation of systemic arterial blood pressure; response to protozoan | 6p21.3 |
| IER3IP1 | regulation of apoptotic process | 18q12 |
| IER5 | - | 1q25.3 |
| IER5L | - | 9q34.11 |
| IFFO1 | - | 12p13.3 |
| IFFO2 | - | 1p36.13 |
| IFI16 | cell proliferation; regulation of transcription, DNA-dependent; response to virus; hemopoiesis; myeloid cell differentiation; monocyte differentiation; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; negative regulation of transcription, DNA-dependent | 1q22 |
| IFI27 | induction of apoptosis by extracellular signals; type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway; activation of pro-apoptotic gene products; activation of cysteine-type endopeptidase activity involved in apoptotic process | 14q32 |
| IFI27L1 | - | 14q32.12 |
| IFI27L2 | - | 14q32.12 |
| IFI35 | immune response; response to virus; cytokine-mediated signaling pathway; type I interferon-mediated signaling pathway | 17q21 |
| IFI44 | response to virus | 1p31.1 |
| IFI44L | immune response; response to virus | 1p31.1 |
| IFI6 | type I interferon-mediated signaling pathway; negative regulation of mitochondrial depolarization; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; cytokine-mediated signaling pathway; immune response; anti-apoptosis; release of cytochrome c from mitochondria | 1p35 |
| IFIH1 | innate immune response; interspecies interaction between organisms; regulation of apoptotic process; positive regulation of interferon-alpha production; negative regulation of type I interferon production; detection of virus; positive regulation of interferon-beta production | 2q24 |
| IFIT1 | intracellular transport of viral proteins in host cell; response to virus; cytokine-mediated signaling pathway; negative regulation of protein binding; positive regulation of viral genome replication; cellular response to exogenous dsRNA; cellular response to type I interferon; negative regulation of viral genome replication; type I interferon-mediated signaling pathway; negative regulation of helicase activity; negative regulation of defense response to virus by host; regulation of defense response to virus | 10q23.31 |
| IFIT1P1 | - | 13q13.1 |
| IFIT2 | negative regulation of protein binding; response to virus; cytokine-mediated signaling pathway; type I interferon-mediated signaling pathway; cellular response to interferon-alpha | 10q23.31 |
| IFIT3 | cytokine-mediated signaling pathway; cellular response to interferon-alpha; type I interferon-mediated signaling pathway | 10q24 |
| IFIT5 | - | 10q23.31 |
| IFIT6P | - | 10q23.31 |
| IFITM1 | regulation of immune response; innate immune response; cytokine-mediated signaling pathway; response to virus; cell surface receptor signaling pathway; negative regulation of cell proliferation; response to biotic stimulus; type I interferon-mediated signaling pathway | 11p15.5 |
| IFITM10 | response to biotic stimulus | 11p15.5 |
| IFITM2 | type I interferon-mediated signaling pathway; innate immune response; cytokine-mediated signaling pathway; response to virus; response to biotic stimulus; immune response | 11p15.5 |
| IFITM3 | response to virus; response to biotic stimulus; immune response; cytokine-mediated signaling pathway; innate immune response; type I interferon-mediated signaling pathway | 11p15.5 |
| IFITM4P | - | 6p22.1 |
| IFITM9P | - | 11q13.3 |
| IFNA1 | - | 9p22 |
| IFNA10 | response to virus; blood coagulation; cytokine-mediated signaling pathway; innate immune response; type I interferon-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway | 9p22 |
| IFNA11P | - | 9p21.3 |
| IFNA17 | response to virus; regulation of type I interferon-mediated signaling pathway; type I interferon-mediated signaling pathway; innate immune response; cytokine-mediated signaling pathway; blood coagulation | 9p22 |
| IFNA21 | regulation of type I interferon-mediated signaling pathway; type I interferon-mediated signaling pathway; innate immune response; cytokine-mediated signaling pathway; response to virus; blood coagulation | 9p22 |
| IFNA22P | - | 9p22 |
| IFNA6 | response to virus; blood coagulation; innate immune response; type I interferon-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway | 9p22 |
| IFNA7 | cytokine-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; type I interferon-mediated signaling pathway; innate immune response; response to virus; blood coagulation; cell-cell signaling | 9p22 |
| IFNAR1 | cytokine-mediated signaling pathway; positive regulation of interferon-gamma production; T cell activation; type I interferon biosynthetic process; defense response to virus; type I interferon-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; cell surface receptor signaling pathway; JAK-STAT cascade; response to virus | 21q22.11 |
| IFNAR2 | cytokine-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; type I interferon-mediated signaling pathway; response to interferon-alpha; regulation of transcription from RNA polymerase II promoter; cell surface receptor signaling pathway; JAK-STAT cascade; cell proliferation; response to virus | 21q22.11 |
| IFNE | defense response; response to virus | 9p21.3 |
| IFNG | negative regulation of smooth muscle cell proliferation; positive regulation of isotype switching to IgG isotypes; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell adhesion; 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 bacterium; defense response to protozoan; positive regulation of interleukin-1 beta secretion; regulation of immune response; regulation of insulin secretion; positive regulation of membrane protein ectodomain proteolysis; positive regulation of killing of cells of other organism; interferon-gamma-mediated signaling pathway; cellular compon | 12q14 |
| IFNG-AS1 | - | 12q15 |
| IFNGR1 | signal transduction; response to virus; cytokine-mediated signaling pathway; interferon-gamma-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway | 6q23.3 |
| IFNGR2 | cytokine-mediated signaling pathway; response to virus; cell surface receptor signaling pathway; interferon-gamma-mediated 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 | cilium assembly; smoothened signaling pathway; neural tube formation; protein processing; dorsal/ventral pattern formation; determination of left/right symmetry; 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 | intraflagellar retrograde transport; cilium morphogenesis; cell projection organization | 14q24.3 |
| IFT46 | protein stabilization; intraflagellar transport; flagellum assembly | 11q23.3 |
| IFT52 | heart looping; neural tube formation; smoothened signaling pathway; determination of left/right symmetry; dorsal/ventral pattern formation; embryonic digit morphogenesis; positive regulation of proteolysis | - |
| IFT57 | regulation of transcription, DNA-dependent; apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of apoptotic process | 3q13.13 |
| IFT74 | - | 9p21.2 |
| IFT80 | - | 3q25.33 |
| IFT81 | multicellular organismal development; spermatogenesis; cell differentiation | 12q24.13 |
| IFT88 | anterior/posterior pattern specification; forebrain morphogenesis; cilium morphogenesis; cardiac septum morphogenesis; telencephalon development; lung vasculature development; protein processing; embryonic organ development; positive regulation of proteolysis; dorsal/ventral pattern formation; organ morphogenesis; brain development; nervous system development; determination of left/right symmetry; embryonic digit morphogenesis; regulation of odontogenesis of dentin-containing tooth; smoothened signaling pathway; in utero embryonic development; cell projection organization | 13q12.1 |
| IGANRP | - | - |
| IGAT | - | 6p21.3 |
| IGBP1 | regulation of signal transduction; 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; signal transduction; negative regulation of transcription from RNA polymerase II promoter; response to interleukin-1 | 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 | negative regulation of ERK1 and ERK2 cascade; prostate gland stromal morphogenesis; negative regulation of androgen receptor signaling pathway; prostate gland epithelium morphogenesis; positive regulation of calcineurin-NFAT signaling cascade; negative regulation of release of cytochrome c from mitochondria; positive regulation of protein kinase B signaling cascade; positive regulation of transcription from RNA polymerase II promoter; regulation of protein metabolic process; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of epithelial cell proliferation; chondroitin sulfate proteoglycan biosynthetic process; branching morphogenesis of a tube; positive regulation of smooth muscle cell proliferation; lung alveolus development; positive regulation of fibroblast proliferation; phosphatidylinositol-mediated signaling; positive regulation of Ras protein signal transduction; positive regulation of glucose import; myoblast proliferation; positive regulation of transcription, DNA-depende | 12q23.2 |
| IGF1R | positive regulation of anti-apoptosis; immune response; anti-apoptosis; 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; establishment of cell polarity; regulation of JNK cascade; protein autophosphorylation; insulin-like growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; protein tetramerization; protein heterooligomerization; inactivation of MAPKK activity; positive regulation of protein kinase B signaling cascade; negative regulation of protein kinase B signaling cascade; prostate gland epithelium morphogenesis; positive regulation of steroid hormone biosynthetic process; axonogenesis; brain development; positive regulation of cell proliferation; signal transduction; phosphatidylinositol 3-kinase cas | 15q26.3 |
| IGF2 | carbohydrate metabolic process; glucose metabolic process; regulation of gene expression by genetic imprinting; positive regulation of mitosis; positive regulation of glycogen (starch) synthase activity; positive regulation of receptor activity; positive regulation of protein serine/threonine kinase activity; positive regulation of protein kinase B signaling cascade; positive regulation of cell division; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of insulin receptor signaling pathway; positive regulation of glycogen biosynthetic process; positive regulation of MAPK cascade; positive regulation of catalytic activity; 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; multicellular organismal development; regulation of transcription, DNA-dependent; ossification; skeletal system development; positive regulation of prote | 11p15.5 |
| IGF2-AS | - | 11p15.5 |
| IGF2BP1 | RNA localization; regulation of mRNA stability involved in response to stress; negative regulation of translation; regulation of cytokine biosynthetic process; CRD-mediated mRNA stabilization | 17q21.32 |
| IGF2BP2 | anatomical structure morphogenesis; negative regulation of translation; regulation of cytokine biosynthetic process | 3q27.2 |
| IGF2BP2-AS1 | - | 3q27.2 |
| IGF2BP3 | regulation of cytokine biosynthetic process; negative regulation of translation; anatomical structure morphogenesis; translation | 7p11 |
| IGF2R | receptor-mediated endocytosis; signal transduction; insulin-like growth factor receptor signaling pathway | 6q26 |
| IGFALS | cell adhesion; signal transduction | 16p13.3 |
| IGFBP1 | activation of signaling protein activity involved in unfolded protein response; signal transduction; insulin receptor signaling pathway; positive regulation of cell growth; endoplasmic reticulum unfolded protein response; tissue regeneration | 7p13-p12 |
| IGFBP2 | regulation of cell growth; response to lithium ion; response to glucocorticoid stimulus; regulation of insulin-like growth factor receptor signaling pathway; positive regulation of activated T cell proliferation; response to stress; signal transduction; female pregnancy; aging; response to nutrient; response to mechanical stimulus; response to drug; response to estradiol stimulus; response to retinoic acid; cellular response to hormone stimulus | 2q33-q34 |
| IGFBP3 | negative regulation of smooth muscle cell proliferation; positive regulation of myoblast differentiation; positive regulation of apoptotic process; negative regulation of smooth muscle cell migration; negative regulation of signal transduction; negative regulation of cell proliferation; protein phosphorylation; negative regulation of protein phosphorylation; regulation of cell growth | 7p13-p12 |
| IGFBP4 | regulation of cell growth; skeletal system development; 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 | 17q12-q21.1 |
| IGFBP5 | mammary gland involution; cellular response to organic cyclic compound; cellular response to cAMP; positive regulation of protein kinase B signaling cascade; striated muscle cell differentiation; negative regulation of smooth muscle cell proliferation; skeletal muscle tissue growth; negative regulation of osteoblast differentiation; type B pancreatic cell proliferation; negative regulation of insulin-like growth factor receptor signaling pathway; positive regulation of insulin-like growth factor receptor signaling pathway; glucose homeostasis; intracellular signal transduction; hair follicle morphogenesis; negative regulation of cell migration; negative regulation of translation; negative regulation of smooth muscle cell migration; regulation of glucose metabolic process; signal transduction; regulation of cell growth | 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 | protein-chromophore linkage; immune response | 14q32.33 |
| IGHA2 | immune response | 14q32.33 |
| IGHD | immune response | 14q32.33 |
| IGHE | immune response | 14q32.33 |
| IGHEP2 | - | 9p24.1 |
| IGHG1 | complement activation; immune response; innate immune response; complement activation, classical pathway | 14q32.33 |
| IGHG3 | immune response; innate immune response; complement activation, classical pathway; complement activation | 14q32.33 |
| IGHG4 | complement activation; immune response; complement activation, classical pathway; innate immune response | 14q32.33 |
| IGHM | immune response | 14q32.33 |
| IGHMBP2 | DNA duplex unwinding; cell death; protein homooligomerization; DNA replication; translation; regulation of transcription, DNA-dependent; DNA recombination; DNA repair; negative regulation of transcription from RNA polymerase II promoter | 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 | regulation of immune response; immune response; complement activation; complement activation, classical pathway; innate 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 | regulation of immune response; innate immune response; complement activation, classical pathway; complement activation; 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 | regulation of immune response; innate 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 | innate immune response; regulation of immune response; complement activation, classical pathway; complement activation; immune response | 2p12 |
| IGKV6-21 | - | 2p12 |
| IGKV7-3 | - | 2p12 |
| IGL | - | 22q11.2 |
| IGLC1 | immune response; complement activation, classical pathway; complement activation; innate immune response; regulation of 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 | regulation of transcription, DNA-dependent; signal transduction | Xq25 |
| IGSF10 | cell differentiation; multicellular organismal development; ossification; tissue regeneration | 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 | cellular component movement; single fertilization; nervous system development; skeletal muscle tissue development; cell proliferation | 1q23.1 |
| IGSF9 | cell differentiation; dendrite development; nervous system development; multicellular organismal development | 1q22-q23 |
| IGSF9B | - | 11q25 |
| IHH | positive regulation of smoothened signaling pathway; negative regulation of apoptotic process; bone resorption; negative regulation of cell differentiation; camera-type eye development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of alpha-beta T cell differentiation; 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; camera-type eye photoreceptor cell fate commitment; somite development; embryonic skeletal joint development; epithelial cell-cell adhesion; multicellular organism growth; in utero embryonic development; osteoblast differentiation; regulation of growth; patterning of blood vessels; cell fate specification; morphogenesis of a branchi | 2q33-q35 |
| IK | immune response; cell-cell signaling | 5q31.3 |
| IKBIP | response to X-ray; induction of apoptosis | 12q23.1 |
| IKBKAP | protein phosphorylation; protein complex assembly; regulation of transcription from RNA polymerase II promoter; immune response; signal transduction; I-kappaB phosphorylation; transcription elongation from RNA polymerase II promoter | 9q31 |
| IKBKB | 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; innate immune response; 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; MyD88-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 virus; Toll signaling pathway; I-kappaB phosphorylation; I-kappaB kinase/NF-kappaB cascade; inflammatory response; anti-apoptosis; protein phosphorylation; MyD88-independent toll-like receptor signaling pathway; toll-like receptor signaling pathway | 8p11.2 |
| IKBKE | positive regulation of I-kappaB kinase/NF-kappaB cascade; TRIF-dependent toll-like receptor signaling pathway; negative regulation of type I interferon production; toll-like receptor 4 signaling pathway; immune response; toll-like receptor 3 signaling pathway; NIK/NF-kappaB cascade; response to DNA damage stimulus; innate immune response; protein phosphorylation; MyD88-independent toll-like receptor signaling pathway; Toll signaling pathway; DNA damage response, signal transduction resulting in induction of apoptosis | 1q32.1 |
| IKBKG | B cell homeostasis; 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; nucleotide-binding oligomerization domain containing signaling pathway; stress-activated MAPK cascade; positive regulation of NF-kappaB transcription factor activity; T cell receptor signaling pathway; toll-like receptor signaling pathway; response to virus; activation of MAPK activity; activation of NF-kappaB-inducing kinase activity; JNK cascade; Toll signaling pathway; innate immune response; interspecies interaction between organisms; positive regulation of I-kappaB kinase/NF-kappaB cascade; 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 | Xq28 |
| IKBKGP1 | - | Xq28 |
| IKZF1 | negative regulation of transcription from RNA polymerase II promoter; positive regulation of multicellular organism growth; forebrain development; T cell differentiation; B cell differentiation; hemopoiesis; positive regulation of neutrophil differentiation; chromatin modification; mesoderm development; positive regulation of transcription from RNA polymerase II promoter; natural killer cell differentiation; cell cycle; multicellular organismal development; 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 lymphocyte differentiation; regulation of B cell proliferation; B cell activation; regulation of apoptotic process | 17q21 |
| IKZF4 | negative regulation of transcription, DNA-dependent | 12q13 |
| IKZF5 | regulation of transcription, DNA-dependent | 10q26 |
| IL10 | response to molecule of bacterial origin; negative regulation of interferon-gamma production; negative regulation of nitric oxide biosynthetic process; negative regulation of growth of symbiont in host; defense response to bacterium; negative regulation of tumor necrosis factor biosynthetic process; response to drug; negative regulation of MHC class II biosynthetic process; negative regulation of T cell proliferation; B cell proliferation; type 2 immune response; response to carbon monoxide; response to insulin stimulus; receptor biosynthetic process; negative regulation of tumor necrosis factor production; negative regulation of interleukin-6 production; negative regulation of interleukin-12 production; regulation of isotype switching; negative regulation of B cell proliferation; negative regulation of myeloid dendritic cell activation; leukocyte chemotaxis; B cell differentiation; negative regulation of cytokine secretion involved in immune response; negative regulation of chronic inflammatory response to a | 1q31-q32 |
| IL10RA | signal transduction | 11q23 |
| IL10RB | immune response; inflammatory response; signal transduction | 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; developmental process; head development | 9p13 |
| IL12A | positive regulation of cell adhesion; defense response to Gram-positive bacterium; positive regulation of T cell mediated cytotoxicity; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; immune response; cell cycle arrest; response to virus; response to UV-B; cell migration; response to lipopolysaccharide; negative regulation of interleukin-17 production; positive regulation of interferon-gamma production; positive regulation of smooth muscle cell apoptosis; positive regulation of NK T cell activation; positive regulation of lymphocyte proliferation; negative regulation of smooth muscle cell proliferation; positive regulation of natural killer cell mediated cytotoxicity; defense response to protozoan; positive regulation of tyrosine phosphorylation of Stat4 protein; positive regulation of T cell proliferation; positive regulation of natural killer cell activation | 3q25.33 |
| IL12B | T-helper cell differentiation; positive regulation of T-helper 17 cell lineage commitment; positive regulation of T-helper 17 type immune response; cellular response to interferon-gamma; cellular response to lipopolysaccharide; defense response to virus; positive regulation of NK T cell proliferation; positive regulation of NK T cell activation; defense response to Gram-negative bacterium; positive regulation of inflammatory response; sexual reproduction; positive regulation of tissue remodeling; positive regulation of natural killer cell proliferation; positive regulation of natural killer cell activation; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; negative regulation of inflammatory response to antigenic stimulus; cell cycle arrest; response to UV-B; positive regulation of activation of JAK2 kinase activity; cell migration; positive regulation of lymphocyte proliferation; positive regulation of smooth muscle cell apoptosis; natural killer cell activa | 5q31.1-q33.1 |
| IL12RB1 | positive regulation of memory T cell differentiation; 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; 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 activated T cell proliferation; interleukin-12-mediated signaling pathway; positive regulation of interferon-gamma production | 19p13.1 |
| IL12RB2 | positive regulation of interferon-gamma production; cell surface receptor signaling pathway; positive regulation of cell proliferation; peptidyl-tyrosine phosphorylation; cytokine-mediated signaling pathway; response to lipopolysaccharide; 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 | negative regulation of smooth muscle cell proliferation; lymph node development; regulation of defense response to virus by host; positive regulation of inflammatory response; positive regulation of immune response; cellular response to vitamin D; NK T cell proliferation; signal transduction; regulation of T cell differentiation; response to nutrient levels; positive regulation of interleukin-17 production; hyaluronan metabolic process; skeletal muscle atrophy; positive regulation of cell proliferation; aging; cell-cell signaling; immune response; positive regulation of natural killer cell proliferation; positive regulation of natural killer cell differentiation; positive regulation of tissue remodeling; positive regulation of T cell proliferation; positive regulation of tyrosine phosphorylation of Stat3 protein; extrathymic T cell selection | 4q31 |
| IL15RA | cytokine-mediated signaling pathway; positive regulation of natural killer cell differentiation; cell proliferation; signal transduction | 10p15.1 |
| IL16 | regulation of transcription, DNA-dependent; chemotaxis; immune response; leukocyte chemotaxis; interspecies interaction between organisms; induction of positive chemotaxis | 15q26.3 |
| IL17B | inflammatory response; immune response; cell-cell signaling | 5q33.1 |
| IL17D | inflammatory response | 13q11 |
| IL17F | inflammatory response; cartilage development; proteoglycan metabolic process; positive regulation of transcription from RNA polymerase II promoter; regulation of granulocyte macrophage colony-stimulating factor biosynthetic process; regulation of interleukin-8 biosynthetic process; regulation of interleukin-6 biosynthetic process; regulation of interleukin-2 biosynthetic process; lymphotoxin A biosynthetic process; cytokine biosynthetic process; regulation of transforming growth factor beta receptor signaling pathway; negative regulation of angiogenesis | 6p12 |
| IL17RA | cell surface receptor signaling pathway; positive regulation of interleukin-23 production; fibroblast activation | 22q11.1 |
| IL17RB | regulation of cell growth; cytokine-mediated signaling pathway; defense response | 3p21.1 |
| IL17RC | - | 3p25.3|3p25.3-p24.1 |
| IL17RD | - | 3p14.3 |
| IL17RE | - | 3p25.3 |
| IL17REL | - | 22q13.33 |
| IL18 | positive regulation of inflammatory response; chemokine biosynthetic process; digestive tract morphogenesis; positive regulation of neuron apoptosis; positive regulation of vascular permeability; granulocyte macrophage colony-stimulating factor biosynthetic process; interleukin-13 biosynthetic process; positive regulation of activated T cell proliferation; interferon-gamma biosynthetic process; interleukin-2 biosynthetic process; T-helper 1 type immune response; type 2 immune response; detection of mechanical stimulus involved in sensory perception of pain; positive regulation of NK T cell proliferation; response to hyperoxia; regulation of blood vessel remodeling; cellular response to hydrogen peroxide; cellular response to mechanical stimulus; cellular response to cAMP; cellular response to interferon-gamma; cellular response to tumor necrosis factor; cellular response to parathyroid hormone stimulus; cellular response to peptide hormone stimulus; cellular response to organic cyclic compound; positive regul | 11q22.2-q22.3 |
| IL18BP | negative regulation of signal transduction; cellular response to hydrogen peroxide; cellular response to tumor necrosis factor; response to lipopolysaccharide; T-helper 1 type immune response | 11q13 |
| IL18R1 | innate immune response; immune response; signal transduction | 2q12 |
| IL18RAP | inflammatory response; immune response; signal transduction; cell surface receptor signaling pathway; innate immune response | 2q12 |
| IL19 | apoptotic process; induction of apoptosis; immune response; signal transduction; interleukin-6 biosynthetic process; reactive oxygen species metabolic process | 1q32.2 |
| IL1A | positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of interleukin-2 biosynthetic process; positive regulation of angiogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of JNK cascade; response to copper ion; positive regulation of cytokine secretion; positive regulation of cell division; regulation of sensory perception of pain; positive regulation of ERK1 and ERK2 cascade; positive regulation of mitosis; cellular response to heat; fever generation; response to hypoxia; apoptotic process; anti-apoptosis; inflammatory response; immune response; cell proliferation; negative regulation of cell proliferation; response to ozone; response to organic nitrogen; response to gamma radiation; wound healing; positive regulation vascular endothelial growth factor production; positive regulation of steroid biosynthetic process; response to organic cyclic compound; cytokine-mediated signaling pathway; keratinization; response to lipopolysaccharide; | 2q14 |
| IL1B | positive regulation of NF-kappaB import into nucleus; positive regulation of interleukin-6 biosynthetic process; positive regulation of interleukin-2 biosynthetic process; positive regulation of chemokine biosynthetic process; positive regulation of JUN kinase activity; protein kinase B signaling cascade; negative regulation of MAP kinase activity; response to morphine; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of apoptotic process; positive regulation of nitric oxide biosynthetic process; positive regulation of T cell proliferation; wound healing; cellular response to drug; monocyte aggregation; cellular response to mechanical stimulus; cellular response to organic substance; cellular response to organic cyclic compound; positive regulation of monocyte chemotactic protein-1 production; response to hypoxia; leukocyte migration; negative regulation of adiponectin secretion; positive regulation of calcidiol 1-monooxygenase acti | 2q14 |
| IL1F10 | - | 2q13 |
| IL1R1 | immune response; response to nitric oxide; response to interleukin-1; innate immune response; ovulation; cell surface receptor signaling pathway; interleukin-1-mediated signaling pathway | 2q12 |
| IL1R2 | immune response | 2q12 |
| IL1RAP | protein complex assembly; inflammatory response; immune response; signal transduction; innate immune response | 3q28 |
| IL1RAPL1 | signal transduction; regulation of neuron projection development; negative regulation of calcium ion transport via voltage-gated calcium channel activity; negative regulation of exocytosis; innate immune response | Xp22.1-p21.3 |
| IL1RAPL2 | signal transduction; central nervous system development; innate immune response | Xq22 |
| IL1RL1 | signal transduction; immune response; negative regulation of T-helper 1 type immune response; cytokine-mediated signaling pathway; negative regulation of interferon-gamma production; positive regulation of interleukin-5 production; positive regulation of macrophage activation; negative regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; positive regulation of inflammatory response; positive regulation of chemokine secretion | 2q12 |
| IL1RL2 | cellular defense response; signal transduction; innate immune response | 2q12 |
| IL1RN | acute-phase response; negative regulation of interleukin-1-mediated signaling pathway; response to glucocorticoid stimulus; negative regulation of heterotypic cell-cell adhesion; immune response; negative regulation of cytokine-mediated signaling pathway | 2q14.2 |
| IL2 | positive regulation of regulatory T cell differentiation; positive regulation of phosphorylation; positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of interleukin-17 production; positive regulation of activated T cell proliferation; positive regulation of tissue remodeling; positive regulation of inflammatory response; 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 cell growth; positive regulation of immunoglobulin secretion; negative regulation of protein phosphorylation; positive regulation of protein phosphorylation; negative regulation of B cell apoptosis; anti-apoptosis; immune response; cell adhesion; elevation of cytosolic calcium ion concentration; activation of protein kinase C act | 4q26-q27 |
| IL20 | positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of epidermal cell differentiation; positive regulation of keratinocyte differentiation; regulation of inflammatory response | 1q32 |
| IL20RA | - | 6q23.3 |
| IL20RB | inflammatory response to antigenic stimulus; positive regulation of interleukin-4 production; positive regulation of interleukin-10 production; negative regulation of T cell proliferation; negative regulation of interleukin-2 production; homeostasis of number of cells within a tissue; regulation of T cell activation; negative regulation of interferon-gamma production; immune response-inhibiting signal transduction; negative regulation of type IV hypersensitivity | 3q22.3 |
| IL21 | positive regulation of inflammatory response; positive regulation of natural killer cell cytokine production; immune response; signal transduction; positive regulation of interleukin-10 production; positive regulation of interleukin-17 production; positive regulation of natural killer cell differentiation; positive regulation of tissue remodeling; positive regulation of T cell proliferation; positive regulation of interferon-gamma biosynthetic process; positive regulation of natural killer cell mediated cytotoxicity; cell maturation | 4q26-q27 |
| IL21-AS1 | - | 4q27 |
| IL21R | natural killer cell activation | 16p11 |
| IL22 | cell-cell signaling; acute-phase response; inflammatory response | 12q15 |
| IL22RA1 | - | 1p36.11 |
| IL22RA2 | regulation of tyrosine phosphorylation of Stat3 protein | 6q25.1 |
| IL23A | positive regulation of interleukin-10 production; positive regulation of NK T cell proliferation; positive regulation of neutrophil chemotaxis; positive regulation of memory T cell differentiation; positive regulation of interleukin-12 production; positive regulation of T-helper 17 type immune response; positive regulation of T-helper 17 cell lineage commitment; positive regulation of interleukin-17 production; positive regulation of NK T cell activation; 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 granulocyte macrophage colony-stimulating factor production; negative regulation of interleukin-10 production; positive regulation of activation of JAK2 kinase activity; response to virus; positive regulation of T-helper 1 type immune response; positive regulation of osteoclast differentiation; positive regulation of natural killer cell proliferation; positive regulation of t | 12q13.3 |
| IL23R | positive regulation of interleukin-12 production; positive regulation of tyrosine phosphorylation of Stat4 protein; positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of memory T cell differentiation; positive regulation of osteoclast differentiation; defense response to Gram-negative bacterium; positive regulation of NK T cell activation; positive regulation of T-helper 17 type immune response; positive regulation of T-helper 17 cell lineage commitment; positive regulation of interferon-gamma production; positive regulation of natural killer cell proliferation; 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 interleukin-17 production; response to interferon-gamma; positive regulation of T cell proliferation; positive regulation of activated T cell proliferation; regulation of tyrosine phosphorylation of Stat1 protein; positive regulat | 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 stress-activated MAPK cascade; cell-cell signaling; positive regulation of transcription from RNA polymerase II promoter; positive regulation of JAK-STAT cascade; negative regulation of epithelial cell proliferation; positive regulation of cytokine secretion; positive regulation of protein kinase B signaling cascade; positive regulation of ERK1 and ERK2 cascade | 12q15 |
| IL27 | regulation of defense response to virus; regulation of T-helper 1 cell differentiation; innate immune response; inflammatory response; response to bacterium; regulation of T cell proliferation; positive regulation of interferon-gamma biosynthetic process | 16p11 |
| IL27RA | cell surface receptor signaling pathway; positive regulation of T-helper 1 type immune response; negative regulation of type 2 immune response; positive regulation of interferon-gamma production; immune response; regulation of isotype switching to IgG isotypes; defense response to Gram-positive bacterium | 19p13.11 |
| IL2RA | inflammatory response to antigenic stimulus; apoptotic process; activation-induced cell death of T cells; immune response; cell surface receptor signaling pathway; cell proliferation; cytokine-mediated signaling pathway; positive regulation of activated T cell proliferation; negative regulation of T cell proliferation; positive regulation of apoptotic process; positive regulation of T cell differentiation; regulation of T cell homeostatic proliferation; negative regulation of defense response to virus; negative regulation of inflammatory response; negative regulation of immune response | 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 | immune response; signal transduction; interleukin-4-mediated signaling pathway; interspecies interaction between organisms | Xq13.1 |
| IL31 | - | 12q24.31 |
| IL31RA | negative regulation of macrophage activation; homeostatic process; positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of transcription, DNA-dependent; macrophage differentiation; MAPK cascade; anti-apoptosis; defense response; transmembrane receptor protein tyrosine kinase signaling pathway; JAK-STAT cascade; positive regulation of cell proliferation; cytokine-mediated signaling pathway; monocyte differentiation | 5q11.2 |
| IL32 | cell adhesion; immune response; defense response | 16p13.3 |
| IL33 | positive regulation of inflammatory response; positive regulation of immunoglobulin secretion; positive regulation of chemokine secretion; positive regulation of transcription from RNA polymerase II promoter; positive regulation of macrophage activation; positive regulation of interleukin-6 production; negative regulation of immunoglobulin secretion; positive regulation of interleukin-5 production; negative regulation of leukocyte migration; positive regulation of interleukin-4 production; positive regulation of interleukin-13 production; negative regulation of interferon-gamma production; negative regulation of T-helper 1 type immune response; positive regulation of gene expression; positive regulation of type 2 immune response | 9p24.1 |
| IL34 | positive regulation of cell proliferation; positive regulation of protein phosphorylation; inflammatory response; innate immune response | 16q22.1 |
| IL36A | immune response; inflammatory 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 chemokine biosynthetic process; connective tissue growth factor biosynthetic process; regulation of isotype switching; type 2 immune response; positive regulation of MHC class II biosynthetic process; negative regulation of nitric oxide biosynthetic process; negative regulation of apoptotic process; negative regulation of macrophage activation; 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; dendritic cell differentiation; response to ethanol; positive regulation of T cell differentiation; negative regulation of osteoclast 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 isotype switching to IgE isotypes; positive regulation of isotype switching to IgG isotyp | 5q31.1 |
| IL4I1 | - | 19q13.3-q13.4 |
| IL4R | negative regulation of T-helper 1 cell differentiation; response to estrogen stimulus; positive regulation of macrophage activation; regulation of cell proliferation; interleukin-4-mediated signaling pathway; ovulation; signal transduction; immune response; production of molecular mediator involved in inflammatory response; positive regulation of T-helper 2 cell differentiation; positive regulation of chemokine secretion | 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 | signal transduction; cell proliferation; interleukin-5-mediated signaling pathway | 3p26-p24 |
| IL6 | positive regulation of acute inflammatory response; regulation of cell shape; monocyte chemotaxis; positive regulation of leukocyte chemotaxis; negative regulation of protein kinase activity; acute-phase response; inflammatory response; humoral immune response; aging; positive regulation of cell proliferation; negative regulation of cell proliferation; response to mechanical stimulus; neutrophil mediated immunity; hepatic immune response; neutrophil apoptosis; cell growth; cytokine-mediated signaling pathway; platelet activation; response to organic cyclic compound; negative regulation of lipid storage; regulation of vascular endothelial growth factor production; response to bacterium; response to heat; response to cold; positive regulation of osteoblast differentiation; response to antibiotic; positive regulation of JAK-STAT cascade; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of anti-apoptosis; regulation of a | 7p21 |
| IL6R | acute-phase response; positive regulation of activation of Janus kinase activity; response to gamma radiation; positive regulation of cell proliferation; response to ethanol; cell growth; cytokine-mediated signaling pathway; endocrine pancreas development; response to lipopolysaccharide; negative regulation of interleukin-8 production; positive regulation of chemokine production; positive regulation of interleukin-6 production; negative regulation of collagen biosynthetic process; response to cytokine stimulus; positive regulation of tyrosine phosphorylation of Stat3 protein; regulation of apoptotic process; positive regulation of MAPK cascade; response to peptide hormone stimulus; monocyte chemotaxis; response to glucocorticoid stimulus; positive regulation of NF-kappaB transcription factor activity; defense response to Gram-positive bacterium; defense response to Gram-negative bacterium; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of smooth muscle cell proliferation; positi | 1q21 |
| IL6ST | positive regulation of smooth muscle cell migration; positive regulation of T cell proliferation; response to cytokine stimulus; cytokine-mediated signaling pathway; positive regulation of acute inflammatory response; positive regulation of adaptive immune response; triglyceride mobilization; JAK-STAT cascade; response to nutrient; positive regulation of cell proliferation; positive regulation vascular endothelial growth factor production; positive regulation of cardiac muscle hypertrophy; positive regulation of tyrosine phosphorylation of Stat1 protein; positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of osteoblast differentiation; positive regulation of anti-apoptosis; leukemia inhibitory factor signaling pathway; reduction of cytosolic calcium ion concentration; interleukin-6-mediated signaling pathway; negative regulation of interleukin-6-mediated signaling pathway; interleukin-27-mediated signaling pathway; ciliary neurotrophic factor-mediated signaling pathway | 5q11.2 |
| IL6STP1 | - | 17p11 |
| IL7 | T cell lineage commitment; anti-apoptosis; immune response; humoral immune response; cell-cell signaling; organ morphogenesis; homeostasis of number of cells within a tissue; positive regulation of organ growth; positive regulation of T cell differentiation; bone resorption; negative regulation of catalytic activity; negative regulation of apoptotic process; positive regulation of B cell proliferation; negative regulation of cell growth; regulation of gene expression; positive regulation of cell proliferation | 8q12-q13 |
| IL7R | regulation of DNA recombination; cell morphogenesis; negative regulation of T cell mediated cytotoxicity; immunoglobulin production; immune response; signal transduction; cell surface receptor signaling pathway; positive regulation of gene expression; cell growth; T cell differentiation; positive regulation of T cell differentiation in thymus; B cell proliferation; lymph node development; homeostasis of number of cells; regulation of cell size | 5p13 |
| IL9 | immune response; positive regulation of interleukin-5 biosynthetic process; positive regulation of cell growth; positive regulation of cell proliferation; inflammatory response | 5q31.1 |
| IL9R | signal transduction; cell proliferation | Xq28 and Yq12 |
| IL9RP2 | - | 10p15.3 |
| IL9RP3 | - | 16p13.3 |
| IL9RP4 | - | 18p11.32 |
| ILDR1 | - | 3q13.33 |
| ILDR2 | homeostasis of number of cells within a tissue; pancreas development; cell differentiation; insulin secretion; response to glucose stimulus | 1q24.1 |
| ILF2 | positive regulation of transcription, DNA-dependent; immune response; transcription, DNA-dependent | 1q21.3 |
| ILF2P1 | - | - |
| ILF2P2 | - | 14q13.2 |
| ILF3 | M phase; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 19p13.2 |
| ILF3-AS1 | - | 19p13.2 |
| ILK | positive regulation of canonical Wnt receptor signaling pathway; positive regulation of BMP 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 osteoblast differentiation; positive regulation of myoblast differentiation; establishment or maintenance of epithelial cell apical/basal polarity; negative regulation of neuron apoptosis; positive regulation of MAPK cascade; positive regulation of MAP kinase activity; fibril organization; positive regulation of phosphorylation; substrate adhesion-dependent cell spreading; cell junction assembly; regulation of actin cytoskeleton organization; myelin assembly; positive regulation of cell-matrix adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; cel | 11p15.4 |
| ILKAP | protein dephosphorylation; negative regulation of cell cycle; regulation of S phase of mitotic cell cycle | 2q37.3 |
| ILVBL | - | 19p13.1 |
| IMMP1L | proteolysis | 11p13 |
| IMMP2L | spermatogenesis; ovulation; ovarian follicle development; proteolysis; protein processing involved in protein targeting to mitochondrion | 7q31 |
| IMMT | - | 2p11.2|2 |
| IMMTP1 | - | 21q22.3 |
| IMP3 | rRNA processing | 15q24 |
| IMP4 | rRNA processing | 2q21.1 |
| IMPA1 | phosphatidylinositol biosynthetic process; phosphate-containing compound metabolic process; signal transduction; response to lithium ion; phosphatidylinositol phosphorylation; inositol phosphate dephosphorylation | 8q21.13-q21.3 |
| IMPA1P | - | 8q21.13 |
| IMPA2 | phosphate-containing compound metabolic process; signal transduction; phosphatidylinositol phosphorylation; inositol phosphate dephosphorylation | 18p11.2 |
| IMPACT | regulation of translational initiation; negative regulation of protein phosphorylation | 18q11.2-q12.1 |
| IMPAD1 | phosphatidylinositol phosphorylation; embryonic digit morphogenesis; skeletal system development; endochondral ossification; chondrocyte development; post-embryonic development; chondroitin sulfate metabolic process; dephosphorylation | 8q12.1 |
| IMPDH1 | purine nucleotide biosynthetic process; nucleobase-containing small molecule metabolic process; lymphocyte proliferation; small molecule metabolic process; purine ribonucleoside monophosphate biosynthetic process; purine base metabolic process; GMP biosynthetic process | 7q31.3-q32 |
| IMPDH1P10 | - | - |
| IMPDH1P11 | - | 16p13.2 |
| IMPDH1P4 | - | Xp11.3 |
| IMPDH1P6 | - | 8q24.13 |
| IMPDH1P8 | - | 3p25.1 |
| IMPDH2 | nucleobase-containing small molecule metabolic process; purine nucleotide biosynthetic process; GMP biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; small molecule metabolic process; lymphocyte proliferation; purine base metabolic process | 3p21.2 |
| IMPG2 | visual perception | 3q12.2-q12.3 |
| INA | nervous system development; multicellular organismal development; tissue regeneration; cell differentiation | 10q24.33 |
| INADL | intracellular signal transduction; cell junction assembly; 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 | protein import into nucleus; cell cycle; negative regulation of cell proliferation; regulation of cell death; negative regulation of cell growth; positive regulation of transcription, DNA-dependent | 13q34 |
| ING2 | regulation of transcription, DNA-dependent; male meiosis I; signal transduction; spermatogenesis; spermatid development; chromatin modification; sperm motility; positive regulation of transforming growth factor beta receptor signaling pathway; regulation of growth; negative regulation of apoptotic process; positive regulation of transcription, DNA-dependent; male germ-line stem cell division; seminiferous tubule development; regulation of cellular senescence; regulation of response to DNA damage stimulus | 4q35.1 |
| ING3 | regulation of transcription, DNA-dependent; histone H2A acetylation; histone H4 acetylation; positive regulation of apoptotic process; regulation of growth; chromatin modification | 7q31 |
| ING4 | histone H4-K8 acetylation; positive regulation of apoptotic process; DNA replication; protein acetylation; apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; cell cycle; cell cycle arrest; negative regulation of cell proliferation; chromatin modification; negative regulation of growth; negative regulation of transcription, DNA-dependent; histone H4-K16 acetylation; histone H4-K12 acetylation; histone H4-K5 acetylation; histone H3 acetylation | 12p13.31 |
| ING5 | DNA replication; protein acetylation; negative regulation of cell proliferation; chromatin modification; histone H3 acetylation; positive regulation of transcription, DNA-dependent; negative regulation of growth | 2q37.3 |
| INGX | - | Xq12 |
| INHA | cell cycle arrest; positive regulation of follicle-stimulating hormone secretion; induction of apoptosis; ovarian follicle development; skeletal system development; negative regulation of follicle-stimulating hormone secretion; cell surface receptor signaling pathway; negative regulation of cell cycle; 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; cell differentiation; response to external stimulus; male gonad development; nervous system development; regulation of cell cycle; cell-cell signaling; signal transduction; erythrocyte differentiation | 2q33-q36 |
| INHBA | 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; regulation of transcription from RNA polymerase II promoter; growth; positive regulation of transcription, DNA-dependent; regulation of activin receptor signaling pathway; negative regulation of cell growth; erythrocyte differentiation; cell differentiation; male gonad development; negative regulation of cell proliferation; nervous system development; cell-cell signaling; cell surface receptor signaling pathway; cell cycle arrest; defense response; induction of apoptosis; hemopoietic progenitor cell differentiation; hair follicle development; ovari | 7p15-p13 |
| INHBA-AS1 | - | 7p14.1 |
| INHBB | cellular response to cholesterol; negative regulation of hepatocyte growth factor biosynthetic process; cellular response to insulin stimulus; activin receptor signaling pathway; growth; regulation of apoptotic process; 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; oocyte development; positive regulation of ovulation; cell differentiation; response to external stimulus; cellular response to starvation; defense response; ovarian follicle development | 2cen-q13 |
| INHBC | growth | 12q13.1 |
| INHBE | growth | 12q13.3 |
| INIP | - | 9q32 |
| INMT | - | 7p14.3 |
| INO80 | ATP catabolic process; positive regulation of transcription from RNA polymerase II promoter; cellular response to UV; DNA duplex unwinding; positive regulation of cell growth; positive regulation of DNA replication involved in S phase; cell cycle; chromatin remodeling; DNA recombination; double-strand break repair; cell division; double-strand break repair via homologous recombination; mitotic sister chromatid segregation; spindle assembly; UV-damage excision repair; cellular response to ionizing radiation; regulation of G1/S transition of mitotic cell cycle | 15q15.1 |
| INO80B | DNA repair; DNA recombination; regulation of transcription, DNA-dependent | 2p13.1 |
| INO80C | regulation of transcription, DNA-dependent; DNA recombination; DNA repair | 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 | signal transduction; phosphatidylinositol phosphorylation; phosphate-containing compound metabolic process | 2q32 |
| INPP4A | signal transduction | 2q11.2 |
| INPP4B | phosphatidylinositol-3-phosphate biosynthetic process; signal transduction | 4q31.21 |
| INPP5A | phosphatidylinositol phosphorylation; cell communication | 10q26.3 |
| INPP5B | signal transduction; small GTPase mediated signal transduction; phosphatidylinositol phosphorylation; phosphatidylinositol dephosphorylation; regulation of small GTPase mediated signal transduction | 1p34 |
| INPP5D | positive regulation of B cell differentiation; negative regulation of monocyte differentiation; negative regulation of interleukin-6 biosynthetic process; positive regulation of apoptotic process; intracellular signal transduction; negative regulation of B cell proliferation; dephosphorylation; immunoglobulin mediated immune response; negative regulation of signal transduction; determination of adult lifespan; negative regulation of cell proliferation; blood coagulation; signal transduction; phosphate-containing compound metabolic process; positive regulation of erythrocyte differentiation; negative regulation of neutrophil differentiation; negative regulation of osteoclast differentiation; negative regulation of bone resorption; phosphatidylinositol phosphorylation; negative regulation of immune response; T cell receptor signaling pathway; leukocyte migration | 2q37.1 |
| INPP5E | phosphatidylinositol phosphorylation; dephosphorylation; positive regulation of neuron projection development; lipid metabolic process | 9q34.3 |
| INPP5F | - | 10q26.11 |
| INPP5J | phosphatidylinositol phosphorylation | 22q12.2 |
| INPP5K | negative regulation of transcription, DNA-dependent; cellular response to insulin stimulus; actin cytoskeleton organization; dephosphorylation; cellular response to hormone stimulus; negative regulation of MAP kinase activity; negative regulation by host of viral transcription; negative regulation of glucose transport; negative regulation of peptidyl-threonine phosphorylation; protein targeting to plasma membrane; cellular response to epidermal growth factor stimulus; negative regulation of insulin receptor signaling pathway; phosphatidylinositol phosphorylation; inositol phosphate dephosphorylation; phosphatidylinositol dephosphorylation; negative regulation of stress fiber assembly; negative regulation of protein kinase B signaling cascade; G-protein coupled receptor signaling pathway; negative regulation of protein kinase activity; regulation of glycogen biosynthetic process; negative regulation of protein phosphorylation; in utero embryonic development; negative regulation of calcium ion transport; cellul | 17p13.3 |
| INPPL1 | negative regulation of platelet-derived growth factor receptor signaling pathway; cellular lipid metabolic process; negative regulation of neuron projection development; 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; negative regulation of insulin receptor signaling pathway; phosphatidylinositol phosphorylation; post-embryonic development; negative regulation of cell proliferation; negative regulation of DNA replication; brain development; cell adhesion; actin filament organization; negative regulation of gene expression; endocytosis; glucose metabolic process | 11q13 |
| INS | positive regulation of cell proliferation; positive regulation of cellular protein metabolic process; insulin receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase cascade; glucose transport; regulation of transmembrane transporter activity; positive regulation of cell growth; positive regulation of cell migration; endocrine pancreas development; positive regulation of protein autophosphorylation; activation of protein kinase B activity; cell-cell signaling; G-protein coupled receptor signaling pathway; acute-phase response; regulation of cellular amino acid metabolic process; regulation of transcription, DNA-dependent; energy reserve metabolic process; glucose metabolic process; carbohydrate metabolic process; negative regulation of acute inflammatory response; MAPK cascade; positive regulation of lipid biosynthetic process; regulation of protein secretion; positive regulation of glycogen biosynthetic process; alpha-beta T cell activation; positive regulation of insulin receptor si | 11p15.5 |
| INSC | nervous system development; establishment of mitotic spindle orientation; multicellular organismal development; cell differentiation; lung epithelial cell differentiation | 11p15.2 |
| INSIG1 | cranial suture morphogenesis; palate development; negative regulation of fatty acid biosynthetic process; response to sterol depletion; 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; steroid metabolic process; metabolic process; cholesterol biosynthetic process; triglyceride metabolic process | 7q36 |
| INSIG2 | negative regulation of steroid biosynthetic process; ER-nuclear sterol response pathway; response to insulin stimulus; response to fatty acid; negative regulation of fatty acid biosynthetic process; inner ear morphogenesis; palate development; triglyceride metabolic process; cholesterol biosynthetic process; response to sterol depletion; middle ear morphogenesis; cranial suture morphogenesis; steroid metabolic process | 2q14.2 |
| INSL3 | positive regulation of cAMP biosynthetic process; oocyte maturation; in utero embryonic development; cell-cell signaling; spermatogenesis; positive regulation of cell proliferation; negative regulation of cell proliferation; male gonad development; negative regulation of apoptotic process; inhibition of adenylate cyclase activity by G-protein signaling pathway | 19p13.2-p12 |
| INSL4 | multicellular organismal development; cell proliferation; female pregnancy; cell-cell signaling; signal transduction | 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 | positive regulation of MAPK cascade; signal transduction by phosphorylation; transformation of host cell by virus; male sex determination; positive regulation of cell migration; exocrine pancreas development; response to nutrient levels; activation of protein kinase activity; activation of protein kinase B activity; response to estradiol stimulus; negative regulation of transporter activity; response to insulin stimulus; cellular response to insulin stimulus; response to vitamin D; response to testosterone stimulus; response to tumor necrosis factor; positive regulation of phosphorylation; glucose homeostasis; insulin receptor signaling pathway; positive regulation of nitric oxide biosynthetic process; activation of MAPK activity; negative regulation of protein phosphorylation; positive regulation of protein phosphorylation; heart morphogenesis; carbohydrate metabolic process; regulation of transcription, DNA-dependent; G-protein coupled receptor signaling pathway; positive regulation of cell proliferation; p | 19p13.3-p13.2 |
| INSRR | transmembrane receptor protein tyrosine kinase signaling pathway; male sex determination; actin cytoskeleton reorganization; protein autophosphorylation; cellular response to alkalinity | 1q21-q23 |
| INTS1 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; snRNA processing; negative regulation of apoptotic process; U2 snRNA 3'-end processing; inner cell mass cell proliferation | 7p22.3 |
| INTS10 | snRNA processing | 8p21.3 |
| INTS12 | snRNA processing | 4q24 |
| INTS2 | snRNA processing | 17q23.2 |
| INTS3 | G2/M transition checkpoint; DNA repair; response to DNA damage stimulus; response to ionizing radiation; snRNA processing | 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 | cellular response to ionizing radiation; DNA damage checkpoint; snRNA processing | 1q32.3 |
| INTS8 | snRNA processing | 8q22.1 |
| INTS9 | snRNA processing | 8p21.1 |
| INTU | cilium assembly; limb development; nervous system development; regulation of smoothened signaling pathway | 4q28.1 |
| INVS | negative regulation of canonical Wnt receptor signaling pathway; kidney development; post-embryonic development; Wnt receptor signaling pathway; pancreas development; embryonic heart tube left/right pattern formation | 9q31 |
| IP6K1 | phosphatidylinositol phosphorylation | 3p21.31 |
| IP6K2 | phosphatidylinositol phosphorylation; type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway; positive regulation of apoptotic process; negative regulation of cell growth | 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 | intracellular protein transport; protein transport | 14q12 |
| IPO5 | NLS-bearing substrate import into nucleus; interspecies interaction between organisms; ribosomal protein import into nucleus; intracellular protein transport | 13q32.2 |
| IPO7 | interspecies interaction between organisms; signal transduction; intracellular protein transport; transport; protein import into nucleus | 11p15.4 |
| IPO7P2 | - | 13q12.12 |
| IPO8 | intracellular protein transport; signal transduction | 12p11.21 |
| IPO8P1 | - | - |
| IPO9 | intracellular protein transport; protein transport; protein import into nucleus | 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 | positive regulation of GTPase activity; regulation of small GTPase mediated signal transduction; glomerular visceral epithelial cell development; energy reserve metabolic process; signal transduction; small molecule metabolic process; regulation of insulin secretion | 15q26.1 |
| IQGAP2 | regulation of small GTPase mediated signal transduction; signal transduction | 5q13.3 |
| IQGAP3 | signal transduction; positive regulation of mammary gland epithelial cell proliferation; ERK1 and ERK2 cascade; negative regulation of gene expression; positive regulation of gene expression; regulation of small GTPase mediated signal transduction; cellular response to organic substance; Ras protein signal transduction; regulation of cell size; positive regulation of protein phosphorylation; activation of MAPK activity; G1/S transition of mitotic cell cycle | 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 | TRIF-dependent toll-like receptor signaling pathway; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; NIK/NF-kappaB cascade; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of JUN kinase activity; innate immune response; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; protein autophosphorylation; nerve growth factor receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; protein oligomerization; stress-activated MAPK cascade; nucleotide-binding oligomerization domain containing signaling pathway; interleukin-1-mediated signaling pathway; response to interleukin-1; negative regulation of cholesterol efflux; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; activation of MAPK activity; regulation of cytokine-mediated signaling pathway; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathwa | Xq28 |
| IRAK1BP1 | regulation of transcription, DNA-dependent; I-kappaB kinase/NF-kappaB cascade | 6q14-q15 |
| IRAK2 | MyD88-independent toll-like receptor signaling pathway; toll-like receptor 1 signaling pathway; negative regulation of NF-kappaB transcription factor activity; 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; innate immune response; positive regulation of NF-kappaB transcription factor activity; stress-activated MAPK cascade; nucleotide-binding oligomerization domain containing signaling pathway; interleukin-1-mediated signaling pathway; response to interleukin-1; Toll signaling pathway; activation of MAPK activity; regulation of cytokine-mediated signaling pathway; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; protein phosphorylation; inflammatory response; signal transduction; I-kappaB kinase/NF-kappaB cascade; JNK cascade; lipopolysaccharide-mediated sign | 3p25.3 |
| IRAK3 | response to virus; response to exogenous dsRNA; negative regulation of MAP kinase activity; response to interleukin-1; positive regulation of macrophage tolerance induction; negative regulation of innate immune response; regulation of protein complex disassembly; protein autophosphorylation; positive regulation of NF-kappaB transcription factor activity; negative regulation of protein complex disassembly; negative regulation of protein catabolic process; negative regulation of toll-like receptor signaling pathway; negative regulation of interleukin-6 production; signal transduction; negative regulation of macrophage cytokine production; protein phosphorylation; MyD88-dependent toll-like receptor signaling pathway; negative regulation of cytokine-mediated signaling pathway; cytokine-mediated signaling pathway; negative regulation of NF-kappaB transcription factor activity; response to peptidoglycan; response to lipopolysaccharide; negative regulation of interleukin-12 production; interleukin-1-mediated signali | 12q14.3 |
| IRAK4 | toll-like receptor 1 signaling pathway; cytokine production; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; signal transduction; positive regulation of smooth muscle cell proliferation; positive regulation of transcription from RNA polymerase II promoter; innate immune response; toll-like receptor 4 signaling pathway; toll-like receptor 2 signaling pathway; cytokine-mediated signaling pathway; Toll signaling pathway; JNK cascade; protein phosphorylation | 12q12 |
| IREB2 | cellular iron ion homeostasis; metabolic process; post-embryonic development; regulation of gene expression; osteoclast differentiation; erythrocyte homeostasis; intestinal absorption; regulation of translation; protoporphyrinogen IX biosynthetic process; iron ion transport | 15q25.1 |
| IRF1 | positive regulation of cell death; blood coagulation; female pregnancy; I-kappaB kinase/NF-kappaB cascade; transcription from RNA polymerase II promoter; response to heat; 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; response to growth hormone stimulus; cellular response to mechanical stimulus; positive regulation of interleukin-12 biosynthetic process; CD8-positive, alpha-beta T cell differentiation; negative regulation of tyrosine phosphorylation of Stat1 protein; cytokine-mediated signaling pathway; positive regulation of transcription from RNA polymerase II promoter; interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway | 5q31.1 |
| IRF2 | blood coagulation; cell proliferation; cytokine-mediated signaling pathway; interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 4q34.1-q35.1 |
| IRF2BP1 | regulation of transcription, DNA-dependent | 19q13.32 |
| IRF2BP2 | regulation of transcription, DNA-dependent | 1q42.3 |
| IRF2BPL | - | 14q24.3 |
| IRF3 | interspecies interaction between organisms; innate immune response; toll-like receptor 4 signaling pathway; type I interferon biosynthetic process; negative regulation of interferon-beta biosynthetic process; negative regulation of defense response to virus by host; positive regulation of cytokine secretion; interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway; cellular response to dsRNA; positive regulation of I-kappaB kinase/NF-kappaB cascade; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 3 signaling pathway; response to lipopolysaccharide; negative regulation of type I interferon production; lipopolysaccharide-mediated signaling pathway; cytokine-mediated signaling pathway; response to bacterium; response to virus; response to exogenous dsRNA; Toll signaling pathway; negative regulation of transcription from RNA polymerase II promoter; MyD88-independent toll-like receptor signaling pathway; transcription from RNA polymerase II promoter | 19q13.3-q13.4 |
| IRF4 | cytokine-mediated signaling pathway; 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; positive regulation of interleukin-13 biosynthetic process; positive regulation of interleukin-4 biosynthetic process; regulation of transcription, DNA-dependent; T cell activation; myeloid dendritic cell differentiation; positive regulation of DNA binding; histone H3 acetylation; histone H4 acetylation; positive regulation of interleukin-10 biosynthetic process; positive regulation of interleukin-2 biosynthetic process | 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; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; cell development; positive regulation of transcription, DNA-dependent; skin development; keratinocyte differentiation; cytokine-mediated signaling pathway; negative regulation of cell proliferation; cell cycle arrest; keratinocyte proliferation | 1q32.3-q41 |
| IRF7 | cytokine-mediated signaling pathway; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; positive regulation of transcription from RNA polymerase II promoter; innate immune response; interspecies interaction between organisms; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; positive regulation of interferon-alpha production; response to virus; Toll signaling pathway; transcription from RNA polymerase II promoter; MyD88-independent toll-like receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter | 11p15.5 |
| IRF8 | type I interferon-mediated signaling pathway; immune response; cellular response to lipopolysaccharide; interferon-gamma-mediated signaling pathway; positive regulation of transcription, DNA-dependent; phagocytosis; negative regulation of transcription from RNA polymerase II promoter; 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 | 16q24.1 |
| IRF9 | type I interferon-mediated signaling pathway; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; cell surface receptor signaling pathway; response to virus; cytokine-mediated signaling pathway; type I interferon biosynthetic process; interferon-gamma-mediated signaling pathway | 14q11.2 |
| IRG1 | propionate catabolic process | 13q22.3 |
| IRGC | - | 19q13.31 |
| IRGM | innate immune response; inflammatory response; autophagy | 5q33.1 |
| IRGQ | - | 19q13.31 |
| IRS1 | response to peptide hormone stimulus; positive regulation of phosphatidylinositol 3-kinase activity; glucose homeostasis; positive regulation of phosphorylation; protein localization to nucleus; cellular response to insulin stimulus; 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; protein kinase B signaling cascade; negative regulation of somatostatin secretion; positive regulation of glucagon secretion; JAK-STAT cascade involved in growth hormone signaling pathway; protein heterooligomerization; phosphatidylinositol-mediated signaling; nerve growth fact | 2q36 |
| IRS2 | negative regulation of plasma membrane long-chain fatty acid transport; response to glucose stimulus; insulin receptor signaling pathway; positive regulation of cell proliferation; brain development; signal transduction; glucose metabolic process; negative regulation of B cell apoptosis; positive regulation of mesenchymal cell proliferation; negative regulation of kinase activity; positive regulation of cell migration; JAK-STAT cascade involved in growth hormone signaling pathway; lipid homeostasis; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; positive regulation of glucose import; positive regulation of glycogen biosynthetic process; 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; regulation of lipid metabolic process; positive regulation of glucose metabolic process | 13q34 |
| IRS3P | - | 7q22.1 |
| IRS4 | signal transduction | Xq22.3 |
| IRX1 | - | 5p15.3 |
| IRX1P1 | - | 13q12.12 |
| IRX2 | specification of loop of Henle identity; metanephros development; proximal/distal pattern formation involved in metanephric nephron development | 5p15.33 |
| IRX3 | multicellular organismal development | 16q12.2 |
| IRX4 | heart development; establishment of organ orientation | 5p15.3 |
| IRX5 | regulation of heart rate; retinal bipolar neuron differentiation; response to stimulus; cell development; neuron maturation; visual perception | 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 | nitrogen fixation; iron-sulfur cluster assembly | 12q24.1 |
| ISCUP1 | - | - |
| ISG15 | response to virus; cytokine-mediated signaling pathway; modification-dependent protein catabolic process; ISG15-protein conjugation; negative regulation of type I interferon production; interspecies interaction between organisms; innate immune response; cell-cell signaling; type I interferon-mediated signaling pathway | 1p36.33 |
| ISG20 | RNA catabolic process; type I interferon-mediated signaling pathway; innate immune response; cytokine-mediated signaling pathway; response to virus; cell proliferation; rRNA processing; DNA catabolic process, exonucleolytic | 15q26 |
| ISG20L2 | ribosome biogenesis | 1q23.1 |
| ISL1 | pituitary gland development; retinal ganglion cell axon guidance; axon regeneration; pancreas development; trigeminal nerve development; visceral motor neuron differentiation; spinal cord motor neuron differentiation; spinal cord motor neuron cell fate specification; positive regulation of insulin secretion; negative regulation of transcription from RNA polymerase II promoter; neural crest cell migration; secondary heart field specification; outflow tract septum morphogenesis; outflow tract morphogenesis; endocardial cushion morphogenesis; cardiac right ventricle morphogenesis; regulation of secondary heart field cardioblast proliferation; multicellular organismal development; positive regulation of cell proliferation; negative regulation of canonical Wnt receptor signaling pathway; pharyngeal system development; ventricular cardiac muscle tissue morphogenesis; peripheral nervous system neuron axonogenesis; sensory system development; cardiac muscle cell myoblast differentiation; innervation; atrial septum mo | 5q11.1 |
| ISL2 | peripheral nervous system neuron development; multicellular organismal development; neuron development | 15q23 |
| ISLR | cell adhesion | 15q23-q24 |
| ISLR2 | positive regulation of axon extension; nervous system development; multicellular organismal 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 | RNA splicing; nuclear mRNA splicing, via spliceosome | 3q21.3 |
| ISYNA1 | phospholipid biosynthetic process; inositol biosynthetic process | 19p13.11 |
| ITCH | protein modification 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; protein K63-linked ubiquitination; protein K48-linked ubiquitination; regulation of protein deubiquitination; nucleotide-binding oligomerization domain containing signaling pathway; ubiquitin-dependent protein catabolic process; regulation of cell growth | 20q11.22 |
| ITCH-IT1 | - | - |
| ITFG1 | - | 16q12.1 |
| ITFG2 | - | 12p13.33 |
| ITGA1 | muscle contraction; neuron projection morphogenesis; cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; axon guidance; neutrophil chemotaxis; vasodilation; positive regulation of neuron apoptosis; cellular extravasation; cell chemotaxis; activation of MAPK activity | 5q11.2 |
| ITGA10 | cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway | 1q21 |
| ITGA11 | cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; muscle organ development | 15q23 |
| ITGA2 | interspecies interaction between organisms; organ morphogenesis; blood coagulation; cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; axon guidance | 5q11.2 |
| ITGA2B | cell-matrix adhesion; platelet activation; blood coagulation; axon guidance; integrin-mediated signaling pathway; cell adhesion; platelet degranulation | 17q21.32 |
| ITGA3 | leukocyte migration; neuron migration; cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; blood coagulation; memory | 17q21.33 |
| ITGA4 | B cell differentiation; regulation of immune response; blood coagulation; heart development; integrin-mediated signaling pathway; leukocyte cell-cell adhesion; heterophilic cell-cell adhesion; cell adhesion; blood vessel remodeling; chorio-allantoic fusion; face development; leukocyte migration | 2q31.3 |
| ITGA5 | leukocyte cell-cell adhesion; heterophilic cell-cell adhesion; cell adhesion; cell-substrate junction assembly; integrin-mediated signaling pathway; angiogenesis; leukocyte migration; positive regulation of peptidyl-tyrosine phosphorylation; interspecies interaction between organisms; wound healing, spreading of epidermal cells; cell-cell adhesion mediated by integrin; positive regulation of vascular endothelial growth factor receptor signaling pathway; memory; blood coagulation; axon guidance | 12q11-q13 |
| ITGA6 | positive regulation of transcription from RNA polymerase II promoter; positive regulation of apoptotic process; positive regulation of phosphorylation; cell junction assembly; hemidesmosome assembly; blood coagulation; integrin-mediated signaling pathway; cell adhesion; cell-substrate junction assembly; negative regulation of apoptotic process; leukocyte migration | 2q31.1 |
| ITGA7 | cell-matrix adhesion; cell adhesion; regulation of cell shape; muscle organ development; integrin-mediated signaling pathway | 12q13 |
| ITGA8 | positive regulation of transforming growth factor beta receptor signaling pathway; metanephros development; inner ear morphogenesis; extracellular matrix organization; cell differentiation; cell projection organization; cell-cell adhesion; memory; nervous system development; multicellular organismal development; integrin-mediated signaling pathway; cell-matrix adhesion | 10p13 |
| ITGA9 | wound healing; axon guidance; integrin-mediated signaling pathway; cell adhesion | 3p21.3 |
| ITGA9-AS1 | - | 3p22.2 |
| ITGAD | integrin-mediated signaling pathway; cell-cell adhesion; activated T cell proliferation; cell-matrix adhesion; cell adhesion; immune response | 16p11.2 |
| ITGAE | cell adhesion; integrin-mediated signaling pathway | 17p13 |
| ITGAL | positive regulation of T cell proliferation; leukocyte migration; positive regulation of calcium-mediated signaling; regulation of immune response; T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell; cellular component movement; inflammatory response; cell adhesion; heterophilic cell-cell adhesion; leukocyte cell-cell adhesion; signal transduction; integrin-mediated signaling pathway; blood coagulation; positive regulation of cell-cell adhesion; activated T cell proliferation | 16p11.2 |
| ITGAM | leukocyte migration; blood coagulation; integrin-mediated signaling pathway; cell adhesion | 16p11.2 |
| ITGAV | cell adhesion; regulation of apoptotic cell clearance; ERK1 and ERK2 cascade; entry of symbiont into host cell by promotion of host phagocytosis; leukocyte migration; regulation of phagocytosis; negative regulation of lipoprotein metabolic process; entry of virus into host cell; positive regulation of cell adhesion; blood vessel development; integrin-mediated signaling pathway; axon guidance; blood coagulation; positive regulation of cell proliferation; negative regulation of macrophage derived foam cell differentiation; cell-matrix adhesion; negative regulation of low-density lipoprotein particle receptor biosynthetic 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; angiogenesis; negative regulation of lipid storage; positive regulation of cell migration; negative regulation of lipid transport; positive regulation of osteoblast proliferation; entry of bacterium into host cell; anti | 2q31-q32 |
| ITGAX | leukocyte migration; defense response to virus; organ morphogenesis; blood coagulation; integrin-mediated signaling pathway; cell adhesion | 16p11.2 |
| ITGB1 | cell migration involved in sprouting angiogenesis; positive regulation of neuron projection development; regulation of cell cycle; cardiac muscle cell differentiation; maternal process involved in female pregnancy; tight junction assembly; cellular response to mechanical stimulus; cellular response to vitamin D; cellular response to ionizing radiation; response to transforming growth factor beta stimulus; response to activity; leukocyte migration; positive regulation of cell-substrate adhesion; germ cell migration; negative regulation of cell proliferation; positive regulation of cell proliferation; regulation of G-protein coupled receptor protein signaling pathway; blood coagulation; axon guidance; multicellular organismal development; integrin-mediated signaling pathway; response to drug; cell migration; B cell differentiation; positive regulation of cell migration; negative regulation of cell projection organization; response to nutrient levels; protein transport within lipid bilayer; cell-cell adhesion me | 10p11.2 |
| ITGB1BP1 | cell-matrix adhesion; cell migration; intracellular protein kinase cascade | 2p25.2 |
| ITGB1BP2 | signal transduction; muscle organ development | Xq12-q13.1 |
| ITGB2 | cell-matrix adhesion; apoptotic process; inflammatory response; cell adhesion; leukocyte cell-cell adhesion; leukocyte migration; regulation of immune response; regulation of peptidyl-tyrosine phosphorylation; neutrophil chemotaxis; regulation of cell shape; blood coagulation; multicellular organismal development; cell-cell signaling; integrin-mediated signaling pathway | 21q22.3 |
| ITGB2-AS1 | - | - |
| ITGB3 | wound healing; cell-matrix adhesion; integrin-mediated signaling pathway; axon guidance; 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; positive regulation of protein phosphorylation; tube development; positive regulation of osteoblast proliferation; negative regulation of lipid transport; activation of protein kinase activity; positive regulation of vascular endothelial growth factor receptor signaling pathway; 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; cell-substrate junction assembly; positive regulation of endothelial c | 17q21.32 |
| ITGB3BP | apoptotic process; regulation of transcription, DNA-dependent; induction of apoptosis by extracellular signals; CenH3-containing nucleosome assembly at centromere; nerve growth factor receptor signaling pathway; signal transduction; cell adhesion; nucleosome assembly; M phase of mitotic cell cycle; mitotic cell cycle; mitotic prometaphase | 1p31.3 |
| ITGB4 | cell communication; cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; multicellular organismal development; response to wounding; hemidesmosome assembly; cell junction assembly; cell motility | 17q25 |
| ITGB5 | 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; muscle contraction; cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; multicellular organismal development | 3q21.2 |
| ITGB5-AS1 | - | - |
| ITGB7 | cell adhesion; regulation of immune response; multicellular organismal development; integrin-mediated signaling pathway; cell-matrix adhesion | 12q13.13 |
| ITGB8 | ganglioside metabolic process; cell adhesion; cell-matrix adhesion; integrin-mediated signaling pathway; multicellular organismal development; placenta blood vessel development | 7p21.1 |
| ITGBL1 | cell-matrix adhesion; cell adhesion; integrin-mediated signaling pathway | 13q33 |
| ITIH1 | hyaluronan metabolic process; leukocyte activation | 3p21.1 |
| ITIH2 | negative regulation of endopeptidase activity; hyaluronan metabolic process | 10p15 |
| ITIH3 | hyaluronan metabolic process; negative regulation of endopeptidase activity | 3p21.1 |
| ITIH4 | hyaluronan metabolic process; negative regulation of endopeptidase activity; acute-phase response | 3p21.1 |
| ITIH5 | hyaluronan metabolic process | 10p14 |
| ITIH6 | hyaluronan metabolic process | Xp11.22-p11.21 |
| ITK | cytokine production; T cell receptor signaling pathway; T cell activation; intracellular signal transduction; interleukin-4 production; interferon-gamma production; activation of phospholipase C activity; signal transduction; cellular defense response; adaptive immune response; NK T cell differentiation | 5q31-q32 |
| ITLN1 | positive regulation of protein phosphorylation; positive regulation of glucose import; signal transduction; response to nematode | 1q21.3 |
| ITLN2 | signal transduction | 1q22-q23 |
| ITM2A | - | Xq13.3-Xq21.2 |
| ITM2B | induction of apoptosis; nervous system development; apoptotic process | 13q14.3 |
| ITM2C | neuron differentiation; negative regulation of neuron projection development; induction of programmed cell death | 2q37 |
| ITPA | nucleotide metabolic process; metabolic process | 20p |
| ITPK1 | signal transduction; blood coagulation; metabolic process; inositol trisphosphate metabolic process | 14q31 |
| ITPKA | signal transduction; inositol metabolic process | 15q15.1 |
| ITPKB | positive thymic T cell selection; positive regulation of Ras protein signal transduction; signal transduction; MAPK cascade; positive regulation of alpha-beta T cell differentiation; cell surface receptor signaling pathway; T cell differentiation | 1q42.13 |
| ITPKB-AS1 | - | - |
| ITPKB-IT1 | - | 1q42.13 |
| ITPKC | - | 19q13.1 |
| ITPR1 | calcium ion transmembrane transport; transmembrane transport; small molecule metabolic process; regulation of insulin secretion; inositol phosphate-mediated signaling; nerve growth factor receptor signaling pathway; 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; energy reserve metabolic process; response to hypoxia | 3p26.1 |
| ITPR1-AS1 | - | - |
| ITPR2 | platelet activation; nerve growth factor receptor signaling pathway; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; signal transduction; ion transport; transport; energy reserve metabolic process; response to hypoxia; small molecule metabolic process; inositol phosphate-mediated signaling; regulation of insulin secretion; transmembrane transport; calcium ion transmembrane transport; cellular response to cAMP; blood coagulation; fibroblast growth factor receptor signaling pathway | 12p11 |
| ITPR3 | sensory perception of sweet taste; nerve growth factor receptor signaling pathway; sensory perception of bitter taste; regulation of insulin secretion; inositol phosphate-mediated signaling; signal transduction; sensory perception of umami taste; protein homooligomerization; protein heterooligomerization; response to calcium ion; transmembrane transport; calcium ion transport into cytosol; platelet activation; epidermal growth factor receptor signaling pathway; ion transport; energy reserve metabolic process; G-protein coupled receptor signaling pathway; activation of phospholipase C activity; elevation of cytosolic calcium ion concentration; blood coagulation; fibroblast growth factor receptor signaling pathway; small molecule metabolic process | 6p21 |
| ITPRIP | - | 10q25.1 |
| ITPRIPL1 | - | 2q11.2 |
| ITPRIPL2 | - | 16p12.3 |
| ITSN1 | positive regulation of catalytic activity; regulation of Rho protein signal transduction; apoptotic process; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; positive regulation of protein kinase B signaling cascade; regulation of small GTPase mediated signal transduction; synaptic vesicle endocytosis; nerve growth factor receptor signaling pathway; negative regulation of neuron apoptosis | 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 | RNA splicing; response to virus; transcription from RNA polymerase III promoter; interspecies interaction between organisms | 1q25.1-q31.1 |
| IWS1 | transcription, DNA-dependent | 2q14.3 |
| IYD | cellular nitrogen compound metabolic process; oxidation-reduction process; small molecule metabolic process; thyroid hormone generation | 6q25.1 |
| IZUMO1 | fusion of sperm to egg plasma membrane; cell adhesion | 19q13.33 |
| IZUMO1R | - | 11q21 |
| IZUMO2 | - | 19q13.33 |
| IZUMO3 | - | 9p21.3 |
| IZUMO4 | - | 19p13.3 |
| JADE1 | response to stress; negative regulation of cell growth; histone H3 acetylation; histone H4-K5 acetylation; apoptotic process; regulation of transcription, DNA-dependent; histone H4-K8 acetylation; histone H4-K12 acetylation; histone H4-K16 acetylation | 4q26-q27 |
| JADE2 | histone H3 acetylation; histone H4-K5 acetylation; histone H4-K8 acetylation; histone H4-K12 acetylation; histone H4-K16 acetylation | 5q31.1 |
| JADE3 | histone H4-K12 acetylation; histone H4-K16 acetylation; histone H4-K5 acetylation; histone H3 acetylation; histone H4-K8 acetylation | Xp11.23 |
| JAG1 | auditory receptor cell differentiation; negative regulation of fat cell differentiation; nervous system development; multicellular organismal development; inner ear development; hemopoiesis; keratinocyte differentiation; regulation of cell migration; response to muramyl dipeptide; endothelial cell differentiation; myoblast differentiation; negative regulation of stem cell differentiation; distal tubule development; regulation of cell proliferation; angiogenesis; positive regulation of myeloid cell differentiation; cell fate determination; morphogenesis of an epithelial sheet; cell communication; Notch signaling pathway; Notch receptor processing; neuronal stem cell maintenance; loop of Henle development; positive regulation of Notch signaling pathway; negative regulation of neuron differentiation; organ morphogenesis | 20p12.1-p11.23 |
| JAG2 | cell cycle; thymic T cell selection; regulation of apoptotic process; 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; spermatogenesis; multicellular organismal development; Notch receptor processing; Notch signaling pathway; skeletal system development; in utero embryonic development; respiratory system process; cell communication | 14q32 |
| JAGN1 | - | 3p25.2 |
| JAK1 | response to antibiotic; intracellular signal transduction; type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway; peptidyl-tyrosine phosphorylation; intracellular protein kinase cascade; enzyme linked receptor protein signaling pathway; interferon-gamma-mediated signaling pathway; protein phosphorylation; regulation of interferon-gamma-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway | 1p32.3-p31.3 |
| JAK2 | response to antibiotic; protein autophosphorylation; regulation of inflammatory response; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of nitric-oxide synthase biosynthetic process; interferon-gamma-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway; growth hormone receptor signaling pathway; JAK-STAT cascade involved in growth hormone signaling pathway; tumor necrosis factor-mediated signaling pathway; positive regulation of growth hormone receptor signaling pathway; mammary gland epithelium development; response to interleukin-12; tyrosine phosphorylation of STAT protein; chromatin modification; positive regulation of phosphatidylinositol 3-kinase cascade; positive regulation of cell-substrate adhesion; activation of caspase activity by protein phosphorylation; negative regulation of cell proliferation; blood coagulation; mesoderm development; STAT protein import into nucleus; negative regulation of DNA binding; JAK-STAT cascade; intracellu | 9p24 |
| JAK3 | peptidyl-tyrosine phosphorylation; response to interleukin-9; response to interleukin-15; response to interleukin-4; response to interleukin-2; negative regulation of thymocyte apoptosis; regulation of T cell apoptosis; JAK-STAT cascade involved in growth hormone signaling pathway; B cell differentiation; negative regulation of FasL biosynthetic process; innate immune response; T cell homeostasis; regulation of apoptotic process; tyrosine phosphorylation of Stat5 protein; positive regulation of activated T cell proliferation; negative regulation of interleukin-12 production; negative regulation of interleukin-10 production; negative regulation of T cell activation; cytokine-mediated signaling pathway; STAT protein import into nucleus; tyrosine phosphorylation of STAT protein; intracellular protein kinase cascade; elevation of cytosolic calcium ion concentration; enzyme linked receptor protein signaling pathway; protein phosphorylation; negative regulation of dendritic cell cytokine production; positive regula | 19p13.1 |
| JAKMIP1 | protein transport | 4p16.1 |
| JAKMIP2 | - | 5q32 |
| JAKMIP2-AS1 | - | 5q32 |
| JAKMIP3 | - | 10q26.3 |
| JAM2 | blood coagulation; leukocyte migration; cell-cell adhesion; negative regulation of cell adhesion | 21q21.2 |
| JAM3 | angiogenesis; blood coagulation; cell adhesion; leukocyte migration; regulation of neutrophil chemotaxis | 11q25 |
| JAML | cell adhesion; heterophilic cell-cell adhesion; blood coagulation; neutrophil chemotaxis; regulation of immune response; leukocyte migration; transepithelial transport | 11q23.3 |
| JARID2 | stem cell differentiation; negative regulation of transcription from RNA polymerase II promoter; liver development; multicellular organismal development; central nervous system development; positive regulation of histone H3-K9 methylation; negative regulation of cell proliferation; chromatin modification; negative regulation of histone methylation; negative regulation of transcription, DNA-dependent; thymus development; spleen development | 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 | blood vessel development; cell surface receptor signaling pathway; recognition of apoptotic cell; mRNA processing; apoptotic process; multicellular organismal development; heart development; chromatin modification; macrophage activation; lung development; cell differentiation; histone H4-R3 demethylation; histone H3-R2 demethylation; peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine; regulation of transcription, DNA-dependent; T cell differentiation in thymus; kidney development; retina development in camera-type eye; erythrocyte development; sprouting angiogenesis; regulation of nuclear mRNA splicing, via spliceosome; RNA splicing | 17q25 |
| JMJD7 | - | 15q15.1 |
| JMJD7-PLA2G4B | - | 15q11.2-q21.3 |
| JMJD8 | - | 16p13.3 |
| JMY | cell cycle arrest; DNA repair; positive regulation of sequence-specific DNA binding transcription factor activity; actin polymerization-dependent cell motility; Arp2/3 complex-mediated actin nucleation; positive regulation of apoptotic process; induction of apoptosis; 'de novo' actin filament nucleation; regulation of transcription from RNA polymerase II promoter | 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 | positive regulation of ryanodine-sensitive calcium-release channel activity; calcium ion homeostasis; regulation of ryanodine-sensitive calcium-release channel activity; regulation of cardiac muscle tissue development; calcium ion transport into cytosol | 20q13.12 |
| JPH3 | exploration behavior; locomotion; regulation of neuronal synaptic plasticity; memory; regulation of ryanodine-sensitive calcium-release channel activity; calcium ion transport into cytosol | 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 | mitosis; negative regulation of apoptotic process; positive regulation of protein kinase activity; cell division; regulation of cell proliferation; cell cycle cytokinesis; cell cycle | 1q21 |
| JUN | positive regulation by host of viral transcription; negative regulation of DNA binding; negative regulation of neuron apoptosis; positive regulation of neuron apoptosis; negative regulation by host of viral transcription; response to drug; innate immune response; positive regulation of monocyte differentiation; response to hydrogen peroxide; positive regulation of fibroblast proliferation; TRIF-dependent toll-like receptor signaling pathway; leading edge cell differentiation; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; positive regulation of DNA replication; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; SMAD protein signal transduction; positive regulation of smooth muscle cell proliferation; regulation of sequence-specific DNA binding transcription factor activity; cellular response to potassium ion starva | 1p32-p31 |
| JUNB | response to organic cyclic compound; osteoclast differentiation; cellular process; response to progesterone stimulus; cellular response to hormone stimulus; osteoblast proliferation; response to cytokine stimulus; response to drug; response to peptide hormone stimulus; positive regulation of cell differentiation; positive regulation of transcription from RNA polymerase II promoter during mitosis; decidualization; response to corticosterone stimulus; response to cAMP; regulation of cell cycle; embryonic process involved in female pregnancy; labyrinthine layer blood vessel development; cellular response to calcium ion; 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 | 19p13.2 |
| JUND | regulation of transcription from RNA polymerase II promoter; cellular response to calcium ion; positive regulation of transcription from RNA polymerase II promoter; positive regulation of osteoblast differentiation; osteoblast development | 19p13.2 |
| JUP | gastrulation; negative regulation of transcription from RNA polymerase II promoter; cell morphogenesis; desmosome assembly; negative regulation of heart induction by canonical Wnt receptor signaling pathway; atrioventricular valve morphogenesis; negative regulation of Wnt receptor signaling pathway involved in heart development; cytoskeletal anchoring at plasma membrane; positive regulation of protein import into nucleus; ectoderm development; nervous system development; morphogenesis of embryonic epithelium; cell-cell adhesion; cell migration; cell junction assembly; adherens junction organization; 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 | 17q21 |
| KAAG1 | immune response | 6p22.1 |
| KALP | - | Yq11 |
| KALRN | small GTPase mediated signal transduction; intracellular signal transduction; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; regulation of Rho protein signal transduction; vesicle-mediated transport; induction of apoptosis by extracellular signals; nervous system development; signal transduction; apoptotic process; protein phosphorylation | 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-K16 acetylation; histone H4-K8 acetylation; histone H4-K5 acetylation | 2q11.2 |
| KANTR | - | Xp11.22 |
| KARS | gene expression; tRNA aminoacylation for protein translation; lysyl-tRNA aminoacylation; tRNA processing; interspecies interaction between organisms | 16q23.1 |
| KARSP1 | - | - |
| KARSP2 | - | - |
| KAT2A | histone deubiquitination; somitogenesis; interspecies interaction between organisms; histone H3-K14 acetylation; histone H3 acetylation; regulation of apoptotic process; multicellular organism growth; midbrain development; metencephalon development; cell proliferation; in utero embryonic development; neural tube closure; chromatin remodeling; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; nervous system development; telencephalon development | 17q21 |
| KAT2B | negative regulation of cyclin-dependent protein kinase activity; negative regulation of phosphorylation; protein acetylation; cellular response to insulin stimulus; transcription initiation from RNA polymerase I promoter; histone H3 acetylation; interspecies interaction between organisms; peptidyl-lysine acetylation; N-terminal peptidyl-lysine acetylation; gene expression; negative regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase I promoter; chromatin remodeling; cell cycle; cell cycle arrest; Notch signaling pathway | 3p24 |
| KAT5 | regulation of growth; positive regulation of transcription, DNA-dependent; interspecies interaction between organisms; histone acetylation; chromatin modification; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; double-strand break repair; negative regulation of transcription from RNA polymerase II promoter; androgen receptor signaling pathway; negative regulation of transcription, DNA-dependent; negative regulation of interleukin-2 production | 11q13 |
| KAT6A | nucleosome assembly; chromatin modification; histone acetylation; myeloid cell differentiation; DNA packaging; histone H3 acetylation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 8p11 |
| KAT6B | chromatin modification; histone acetylation; regulation of transcription, DNA-dependent; histone H3 acetylation; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; nucleosome assembly | 10q22.2 |
| KAT7 | histone H3 acetylation; histone H4-K16 acetylation; histone H4-K12 acetylation; chromatin modification; regulation of transcription, DNA-dependent; histone H4-K8 acetylation; DNA replication; histone H4-K5 acetylation | 17q21.32 |
| KAT8 | histone H4-K5 acetylation; negative regulation of transcription, DNA-dependent; histone H4-K16 acetylation; histone H4-K8 acetylation; positive regulation of transcription, DNA-dependent; myeloid cell differentiation; histone acetylation; chromatin modification | 16p11.2 |
| KATNA1 | mitosis; protein localization; cell cycle; neuron migration; negative regulation of neuron projection development; cytoplasmic microtubule organization; microtubule severing; cell division; interphase of mitotic cell cycle | 6q25.1 |
| KATNAL1 | - | 13q12.3 |
| KATNAL2 | - | 18q21.1 |
| KATNB1 | microtubule severing; mitosis; positive regulation of microtubule depolymerization; cell division; 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 | extracellular matrix organization; cell differentiation; ossification; multicellular organismal development; 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 | ion transport; potassium ion transmembrane transport; transmembrane transport; potassium ion transport; synaptic transmission | 1p13 |
| KCNA3 | ion transport; potassium ion transport; synaptic transmission; regulation of ion transmembrane transport; transmembrane transport | 1p13.3 |
| KCNA4 | ion transport; potassium ion transport; synaptic transmission; transmembrane transport | 11p14 |
| KCNA5 | potassium ion transport; response to hypoxia; ion transport; synaptic transmission; regulation of membrane potential; negative regulation of potassium ion transport; protein oligomerization; reduction of cytosolic calcium ion concentration; potassium ion homeostasis; transmembrane transport | 12p13 |
| KCNA6 | ion transport; potassium ion transport; synaptic transmission; transmembrane transport | 12p13 |
| KCNA7 | transmembrane transport; potassium ion transport; ion transport; synaptic transmission | 19q13.3 |
| KCNAB1 | transmembrane transport; ion transport; potassium ion transport; synaptic transmission | 3q26.1 |
| KCNAB1-AS1 | - | - |
| KCNAB2 | ion transport; potassium ion transport; synaptic transmission; transmembrane transport | 1p36.3 |
| KCNAB3 | synaptic transmission; transmembrane transport; potassium ion transport; ion transport | 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; potassium ion transport; transmembrane transport; synaptic transmission; regulation of smooth muscle contraction | 8q13.2 |
| KCNC1 | ion transport; potassium ion transport; synaptic transmission; transmembrane transport | 11p15 |
| KCNC2 | transmembrane transport; regulation of insulin secretion; small molecule metabolic process; potassium ion transport; ion transport; energy reserve metabolic process; synaptic transmission | 12q14.1 |
| KCNC3 | regulation of neurotransmitter secretion; transmembrane transport; cell death; synaptic transmission; potassium ion transport; ion transport | 19q13.33 |
| KCNC4 | ion transport; potassium ion transport; synaptic transmission; regulation of neurotransmitter secretion; transmembrane transport; potassium ion transmembrane transport | 1p21 |
| KCND1 | synaptic transmission; ion transport; potassium ion transport; transmembrane transport | Xp11.23 |
| KCND2 | regulation of action potential; ion transport; potassium ion transport; synaptic transmission; protein heterooligomerization; transmembrane transport | 7q31 |
| KCND3 | ion transport; potassium ion transport; synaptic transmission; transmembrane transport | 1p13.3 |
| KCND3-AS1 | - | - |
| KCND3-IT1 | - | - |
| KCNE1 | sensory perception of sound; potassium ion export; blood circulation; regulation of heart contraction; membrane depolarization; muscle contraction; potassium ion transport; ion transport; epithelial cell maturation | 21q22.12 |
| KCNE2 | ion transport; regulation of heart contraction; blood circulation; muscle contraction; potassium ion transport | 21q22.12 |
| KCNE3 | regulation of potassium ion transport; ion transport | 11q13.4 |
| KCNE4 | ion transport; potassium ion transport | 2q36.1 |
| KCNE5 | regulation of heart contraction | Xq22.3 |
| KCNF1 | ion transport; transmembrane transport; potassium ion transmembrane transport; potassium ion transport; synaptic transmission | 2p25 |
| KCNG1 | ion transport; potassium ion transport; synaptic transmission; transmembrane transport; potassium ion transmembrane transport | 20q13 |
| KCNG2 | potassium ion transport; synaptic transmission; regulation of heart contraction; small molecule metabolic process; regulation of insulin secretion; transmembrane transport; ion transport; energy reserve metabolic process | 18q23 |
| KCNG3 | synaptic transmission; ion transport; potassium ion transport; transmembrane transport | 2p21 |
| KCNG4 | potassium ion transport; ion transport; transmembrane transport; synaptic transmission | 16q24.1 |
| KCNH1 | myoblast fusion; transmembrane transport; potassium ion transport; ion transport; regulation of transcription, DNA-dependent | 1q32.2 |
| KCNH1-IT1 | - | - |
| KCNH2 | regulation of transcription, DNA-dependent; ion transport; potassium ion transport; muscle contraction; synaptic transmission; blood circulation; regulation of heart contraction; regulation of membrane potential; transmembrane transport; protein heterooligomerization | 7q36.1 |
| KCNH3 | transmembrane transport; regulation of transcription, DNA-dependent; synaptic transmission; potassium ion transport; ion transport | 12q13 |
| KCNH4 | regulation of transcription, DNA-dependent; ion transport; potassium ion transport; synaptic transmission; transmembrane transport | 17q21.2 |
| KCNH5 | regulation of transcription, DNA-dependent; transmembrane transport; synaptic transmission; potassium ion transport; ion transport | 14q23.2 |
| KCNH6 | regulation of transcription, DNA-dependent; ion transport; potassium ion transport; signal transduction; synaptic transmission; transmembrane transport; protein heterooligomerization | 17q23.3 |
| KCNH7 | protein heterooligomerization; circadian rhythm; transmembrane transport; regulation of transcription, DNA-dependent; synaptic transmission; potassium ion transport; ion transport | 2q24.2 |
| KCNH8 | regulation of transcription, DNA-dependent; ion transport; potassium ion transport; synaptic transmission; negative regulation of apoptotic process; transmembrane transport | 3p24.3 |
| KCNIP1 | synaptic transmission; potassium ion transport; detection of calcium ion; ion transport; positive regulation of action potential; signal transduction | 5q35.1 |
| KCNIP2 | clustering of voltage-gated potassium channels; synaptic transmission; regulation of heart contraction; signal transduction; ion transport; potassium ion transport; detection of calcium ion; muscle contraction | 10q24 |
| KCNIP3 | sensory perception of pain; signal transduction; behavior; apoptotic process; potassium ion transport; ion transport; regulation of neuron apoptosis; negative regulation of transcription from RNA polymerase II promoter; response to pain; regulation of transcription from RNA polymerase II promoter | 2q21.1 |
| KCNIP4 | ion transport; potassium ion transport | 4p15.32 |
| KCNIP4-IT1 | - | 4p15.2 |
| KCNJ1 | synaptic transmission; potassium ion transport; excretion; ion transport | 11q24 |
| KCNJ10 | regulation of long-term neuronal synaptic plasticity; ion transport; potassium ion transport; inflammatory response; synaptic transmission; visual perception; adult walking behavior; response to blue light; potassium ion import; optic nerve development; central nervous system myelination; protein homotetramerization; response to glucocorticoid stimulus; response to mineralocorticoid stimulus; regulation of sensory perception of pain; glutamate uptake involved in synaptic transmission; potassium ion homeostasis; regulation of resting membrane potential; membrane hyperpolarization | 1q23.2 |
| KCNJ11 | neurological system process; glucose metabolic process; potassium ion transport; synaptic transmission; potassium ion import; response to ATP; response to testosterone stimulus; regulation of membrane potential; response to drug; small molecule metabolic process; negative regulation of insulin secretion; regulation of insulin secretion; ion transport; energy reserve metabolic process | 11p15.1 |
| KCNJ12 | blood circulation; synaptic transmission; muscle contraction; potassium ion transport; ion transport; regulation of heart contraction | 17p11.2 |
| KCNJ13 | ion transport; potassium ion transport | 2q37 |
| KCNJ14 | ion transport; potassium ion transport; synaptic transmission | 19q13 |
| KCNJ15 | ion transport; potassium ion transport; synaptic transmission | 21q22.2 |
| KCNJ16 | potassium ion transport; synaptic transmission; ion transport | 17q24.3 |
| KCNJ2 | synaptic transmission; potassium ion transport; ion transport | 17q24.3 |
| KCNJ2-AS1 | - | 17q24.3 |
| KCNJ3 | response to electrical stimulus; synaptic transmission; potassium ion transport; ion transport | 2q24.1 |
| KCNJ4 | potassium ion transport; ion transport; synaptic transmission | 22q13.1 |
| KCNJ5 | ion transport; potassium ion transport; synaptic transmission | 11q24 |
| KCNJ6 | response to electrical stimulus; thyroid hormone metabolic process; synaptic transmission; potassium ion transport; ion transport | 21q22.1 |
| KCNJ8 | synaptic transmission; heart development; response to pH; potassium ion transport; ion transport; kidney development; potassium ion import; response to lipopolysaccharide; vasodilation; response to exogenous dsRNA; defense response to virus | 12p11.23 |
| KCNJ9 | ion transport; potassium ion transport; synaptic transmission | 1q23.2 |
| KCNK1 | ion transport; potassium ion transport; synaptic transmission; response to nicotine | 1q42-q43 |
| KCNK10 | signal transduction; synaptic transmission; potassium ion transport; ion transport; transport; potassium ion transmembrane transport | 14q31.3 |
| KCNK12 | ion transport; potassium ion transport | 2p16.3 |
| KCNK13 | potassium ion transmembrane transport; synaptic transmission; ion transport; potassium ion transport | 14q32.11 |
| KCNK15 | ion transport; potassium ion transport | 20q13.12 |
| KCNK16 | synaptic transmission; ion transport; potassium ion transport; potassium ion transmembrane transport | 6p21.2-p21.1 |
| KCNK17 | potassium ion transmembrane transport; synaptic transmission; potassium ion transport; ion transport | 6p21.1 |
| KCNK18 | potassium ion transmembrane transport; cellular response to pH; ion transport; potassium ion transport; potassium ion export; synaptic transmission | 10q25.3 |
| KCNK2 | ion transport; potassium ion transport; G-protein coupled receptor signaling pathway; synaptic transmission; potassium ion transmembrane transport | 1q41 |
| KCNK3 | brain development; cochlea development; potassium ion transmembrane transport; cellular response to hypoxia; cellular response to zinc ion; reduction of cytosolic calcium ion concentration; response to drug; synaptic transmission; potassium ion transport; ion transport | 2p23 |
| KCNK4 | synaptic transmission; potassium ion transport; ion transport; potassium ion transmembrane transport | 11q13 |
| KCNK5 | potassium ion transmembrane transport; excretion; potassium ion transport; ion transport | 6p21 |
| KCNK6 | ion transport; potassium ion transport; synaptic transmission | 19q13.1 |
| KCNK7 | potassium ion transmembrane transport; ion transport; potassium ion transport; synaptic transmission | 11q13 |
| KCNK9 | potassium ion transport; ion transport; synaptic transmission; potassium ion transmembrane transport | 8q24.3 |
| KCNMA1 | response to carbon monoxide; cellular potassium ion homeostasis; smooth muscle contraction involved in micturition; potassium ion transport; ion transport; response to hypoxia; potassium ion transmembrane transport; micturition; transmembrane transport; response to calcium ion; negative regulation of cell volume; positive regulation of apoptotic process; regulation of membrane potential; response to osmotic stress; synaptic transmission; blood coagulation | 10q22.3 |
| KCNMB1 | ion transport; potassium ion transport; synaptic transmission; blood coagulation; response to calcium ion; potassium ion transmembrane transport | 5q34 |
| KCNMB2 | synaptic transmission; regulation of action potential; ion transport; regulation of vasoconstriction; detection of calcium ion; blood coagulation; regulation of action potential in neuron; potassium ion transmembrane transport; potassium ion transport | 3q26.32 |
| KCNMB3 | ion transport; detection of calcium ion; regulation of action potential; potassium ion transmembrane transport; regulation of action potential in neuron; potassium ion transport; blood coagulation; synaptic transmission | 3q26.3-q27 |
| KCNMB4 | blood coagulation; synaptic transmission; regulation of action potential; detection of calcium ion; ion transport; potassium ion transport; potassium ion transmembrane transport; regulation of neurotransmitter secretion; regulation of vasoconstriction; regulation of action potential in neuron | 12q |
| KCNN1 | potassium ion transport; potassium ion transmembrane transport; ion transport; synaptic transmission | 19p13.1 |
| KCNN2 | ion transport; potassium ion transmembrane transport; synaptic transmission; potassium ion 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; phospholipid translocation; stabilization of membrane potential; positive regulation of T cell receptor signaling pathway; saliva secretion | 19q13.2 |
| KCNQ1 | regulation of gene expression by genetic imprinting; potassium ion export; regulation of membrane repolarization; transmembrane transport; negative regulation of insulin secretion; response to chemical stimulus; gene silencing; regulation of heart contraction; blood circulation; sensory perception of sound; synaptic transmission; muscle contraction; potassium ion transport; ion transport | 11p15.5 |
| KCNQ1OT1 | - | 11p15 |
| KCNQ2 | ion transport; potassium ion transport; synaptic transmission; axon guidance; transmembrane transport; potassium ion transmembrane transport; nervous system development | 20q13.3 |
| KCNQ3 | potassium ion transmembrane transport; transmembrane transport; axon guidance; synaptic transmission; potassium ion transport; ion transport | 8q24 |
| KCNQ4 | potassium ion transmembrane transport; transmembrane transport; inner ear morphogenesis; negative regulation of synaptic transmission, dopaminergic; sensory perception of sound; synaptic transmission; potassium ion transport; ion transport | 1p34 |
| KCNQ5 | protein complex assembly; ion transport; potassium ion transport; transmembrane transport; synaptic transmission | 6q14 |
| KCNQ5-IT1 | - | - |
| KCNRG | potassium ion transport | 13q14.2 |
| KCNS1 | ion transport; potassium ion transport; synaptic transmission; transmembrane transport | 20q12 |
| KCNS2 | ion transport; potassium ion transport; synaptic transmission; transmembrane transport | 8q22 |
| KCNS3 | transmembrane transport; energy reserve metabolic process; ion transport; potassium ion transport; synaptic transmission; small molecule metabolic process; regulation of insulin secretion | 2p24 |
| KCNT1 | ion transport; potassium ion transport; potassium ion transmembrane transport | 9q34.3 |
| KCNT2 | potassium ion transport; ion transport; potassium ion transmembrane transport | 1q31.3 |
| KCNU1 | potassium ion transmembrane transport; transmembrane transport; potassium ion transport; ion transport | 8p11.23 |
| KCNV1 | ion transport; transmembrane transport; synaptic transmission; potassium ion transport | 8q23.2 |
| KCNV2 | ion transport; potassium ion transport; transmembrane transport; synaptic transmission | 9p24.2 |
| KCP | - | 7q32.1 |
| KCTD1 | potassium ion transport; negative regulation of transcription, DNA-dependent | 18q11.2 |
| KCTD10 | proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; potassium ion transport | 12q24.11 |
| KCTD11 | regulation of growth; nervous system development; multicellular organismal development; cell differentiation; regulation of cell proliferation; cell cycle; potassium ion transport | 17p13.1 |
| KCTD12 | potassium ion transport | 13q22.3 |
| KCTD13 | proteasomal ubiquitin-dependent protein catabolic process; DNA replication; stress fiber assembly; negative regulation of Rho protein signal transduction; protein ubiquitination; cell migration; potassium ion transport | 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 | vesicle-mediated transport; intracellular protein transport; protein retention in ER lumen | 19q13.3 |
| KDELR2 | protein retention in ER lumen; intracellular protein transport; vesicle-mediated transport | 7p22.1 |
| KDELR3 | vesicle-mediated transport; endoplasmic reticulum unfolded protein response; protein retention in ER lumen; protein transport; activation of signaling protein activity involved in unfolded protein response | 22q13.1 |
| KDF1 | - | 1p36.11 |
| KDM1A | negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of DNA damage response, signal transduction by p53 class mediator; protein demethylation; negative regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; multicellular organismal development; positive regulation of sequence-specific DNA binding transcription factor activity; blood coagulation; muscle cell development; oxidation-reduction process; chromatin modification; negative regulation of DNA binding; negative regulation of protein binding; histone H3-K9 demethylation; histone H3-K4 demethylation; negative regulation of apoptotic process | 1p36.12 |
| KDM1B | regulation of gene expression by genetic imprinting; DNA methylation involved in gamete generation; regulation of DNA methylation; regulation of transcription, DNA-dependent; multicellular organismal development; histone H3-K4 demethylation; chromatin modification | 6p22.3 |
| KDM2A | chromatin modification; regulation of transcription, DNA-dependent | 11q13.2 |
| KDM2B | negative regulation of neural precursor cell proliferation; embryonic camera-type eye morphogenesis; negative regulation of neuron apoptosis; forebrain development; histone H2A monoubiquitination; hindbrain development; midbrain development; histone demethylation; midbrain-hindbrain boundary morphogenesis; fourth ventricle development; lateral ventricle development; third ventricle development; initiation of neural tube closure; chromatin modification; regulation of transcription, DNA-dependent; spermatogenesis; negative regulation of transcription from RNA polymerase II promoter | 12q24.31 |
| KDM3A | spermatogenesis; hormone-mediated signaling pathway; chromatin modification; cell differentiation; androgen receptor signaling pathway; histone H3-K9 demethylation; positive regulation of transcription, DNA-dependent; formaldehyde biosynthetic process | 2p11.2 |
| KDM3B | chromatin modification; regulation of transcription, DNA-dependent | 5q31 |
| KDM4A | chromatin modification; histone H3-K36 demethylation; negative regulation of transcription, DNA-dependent; interspecies interaction between organisms; histone demethylation | 1p34.1 |
| KDM4A-AS1 | - | 1p34.1 |
| KDM4B | regulation of transcription, DNA-dependent; chromatin modification | 19p13.3 |
| KDM4C | regulation of transcription from RNA polymerase II promoter; histone H3-K9 demethylation; chromatin modification; positive regulation of cell proliferation | 9p24.1 |
| KDM4D | regulation of transcription, DNA-dependent; chromatin modification | 11q21 |
| KDM5A | regulation of transcription, DNA-dependent; chromatin modification; multicellular organismal development; positive regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 12p11 |
| KDM5B | negative regulation of transcription, DNA-dependent; histone H3-K4 demethylation, trimethyl-H3-K4-specific; histone H3-K4 demethylation; chromatin modification; regulation of transcription, DNA-dependent | 1q32.1 |
| KDM5C | regulation of transcription, DNA-dependent; chromatin modification; histone H3-K4 demethylation | Xp11.22-p11.21 |
| KDM5D | histone H3-K4 demethylation; chromatin modification; spermatogenesis | Yq11 |
| KDM6A | chromatin modification; histone H3-K4 methylation | Xp11.2 |
| KDM6B | negative regulation of transcription from RNA polymerase II promoter; inflammatory response; chromatin modification; histone demethylation | 17p13.1 |
| KDM7A | nervous system development; chromatin modification; 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 | cell cycle; G2/M transition of mitotic cell cycle; chromatin modification; histone H3-K36 demethylation; positive regulation of transcription, DNA-dependent | 16p12.1 |
| KDR | signal transduction by phosphorylation; positive regulation of angiogenesis; peptidyl-tyrosine phosphorylation; positive regulation of phosphatidylinositol 3-kinase cascade; positive regulation of endothelial cell migration; regulation of cell shape; positive regulation of cell proliferation; multicellular organismal development; transmembrane receptor protein tyrosine kinase signaling pathway; endothelium development; positive regulation of mesenchymal cell proliferation; lymph vessel development; positive regulation of endothelial cell proliferation; vasculogenesis; ovarian follicle development; angiogenesis; embryonic hemopoiesis; endothelial cell differentiation; cell fate commitment; interspecies interaction between organisms; positive regulation of MAPK cascade; protein autophosphorylation; vascular endothelial growth factor receptor signaling pathway; lung alveolus development; cell maturation; branching morphogenesis of a tube; positive regulation of positive chemotaxis; positive regulation of focal a | 4q11-q12 |
| KDSR | 3-keto-sphinganine metabolic process; sphingolipid metabolic process; sphingolipid biosynthetic process; small molecule metabolic process | 18q21.3 |
| KEAP1 | regulation of transcription, DNA-dependent; negative regulation of gene expression; cytoplasmic sequestering of transcription factor; in utero embryonic development; regulation of epidermal cell differentiation | 19p13.2 |
| KEL | proteolysis; vasoconstriction | 7q33 |
| KERA | visual perception; response to stimulus | 12q22 |
| KGFLP1 | - | 9p11.2 |
| KGFLP2 | - | 9p12 |
| KHDC1 | - | 6q13 |
| KHDC1L | - | 6q13 |
| KHDC3L | - | 6q13 |
| KHDRBS1 | cell cycle arrest; G2/M transition of mitotic cell cycle; mRNA processing; cell cycle; signal transduction; cell surface receptor signaling pathway; cell proliferation; negative regulation of transcription, DNA-dependent; regulation of RNA export from nucleus | 1p32 |
| KHDRBS2 | regulation of transcription, DNA-dependent | 6q11.1 |
| KHDRBS3 | mRNA processing; regulation of transcription, DNA-dependent; spermatogenesis; positive regulation of RNA splicing | 8q24.2 |
| KHK | carbohydrate metabolic process; response to sucrose stimulus; response to glucose stimulus; response to fructose stimulus; fructose catabolic process; small molecule metabolic process; response to insulin stimulus; response to zinc ion | 2p23.3 |
| KHNYN | - | 14q12 |
| KHSRP | RNA splicing, via transesterification reactions; regulation of transcription, DNA-dependent; mRNA processing; transport; RNA splicing; gene expression; RNA metabolic process; mRNA metabolic process; mRNA transport | 19p13.3 |
| KHSRPP1 | - | 9p21.3 |
| KIAA0040 | - | 1q24-q25 |
| KIAA0100 | - | 17q11.2 |
| KIAA0101 | - | 15q22.31 |
| KIAA0125 | - | 14q32.33 |
| KIAA0141 | apoptotic process; regulation of cysteine-type endopeptidase activity involved in apoptotic process | 5q31.3 |
| KIAA0196 | cell death | 8q24.13 |
| KIAA0226L | - | 13q14.13 |
| KIAA0232 | - | 4p16.1 |
| KIAA0319 | negative regulation of dendrite development; nervous system development; multicellular organismal development; neuron migration | 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 | positive regulation of insulin-like growth factor receptor signaling pathway; positive regulation of protein kinase B signaling cascade; carbohydrate metabolic process; skeletal muscle fiber development | 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 | multicellular organismal development; mitochondrial transport; cell differentiation; nervous system 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 | embryonic digit morphogenesis; embryonic forelimb morphogenesis; blood coagulation; multicellular organismal development; limb development | 2q31 |
| KIAA1755 | - | 20q11.23 |
| KIAA1804 | - | 1q42 |
| KIAA1841 | - | 2q14 |
| KIAA1919 | transmembrane transport; ion transport; carbohydrate transport; sodium ion transport | 6q22 |
| KIAA1958 | - | 9q32 |
| KIAA2012 | - | 2q33.1 |
| KIAA2013 | - | 1p36.22 |
| KIAA2022 | DNA replication proofreading; DNA replication, removal of RNA primer; regulation of mitotic cell cycle; S phase of mitotic cell cycle; nucleotide-excision repair, DNA gap filling; base-excision repair, gap-filling | Xq13.3 |
| KIAA2026 | - | 9p24.1 |
| KIDINS220 | nerve growth factor receptor signaling pathway; activation of MAPKK activity | 2p24 |
| KIF11 | mitotic spindle organization; spindle assembly involved in mitosis; cell division; blood coagulation; mitotic centrosome separation; mitosis; spindle organization; cell cycle; microtubule-based movement | 10q24.1 |
| KIF12 | microtubule-based movement | 9q32 |
| KIF13A | intracellular protein transport; plus-end-directed vesicle transport along microtubule; Golgi to plasma membrane protein transport; cargo loading into vesicle; melanosome organization; endosome to lysosome transport; cell cycle; cytokinesis; microtubule-based movement | 6p23 |
| KIF13B | microtubule-based movement; protein targeting; regulation of axonogenesis; signal transduction; T cell activation | 8p12 |
| KIF14 | microtubule-based movement | 1q32.1 |
| KIF15 | cell proliferation; microtubule-based movement; mitosis; blood coagulation | 3p21.31 |
| KIF16B | receptor catabolic process; microtubule-based movement; cell communication; epidermal growth factor receptor signaling pathway; endoderm development; fibroblast growth factor receptor signaling pathway; Golgi to endosome transport; transport; early endosome to late endosome transport; regulation of receptor recycling; formation of primary germ layer | 20p11.23 |
| KIF17 | microtubule-based movement; metabolic process; protein transport; vesicle-mediated transport; protein complex localization | 1p36.12 |
| KIF18A | microtubule-based movement; blood coagulation; mitotic metaphase plate congression; protein transport; mitotic cell cycle; microtubule depolymerization; mitotic prometaphase; M phase of mitotic cell cycle | 11p14.1 |
| KIF18B | regulation of cell division; mitosis; microtubule-based movement; mitotic cell cycle | 17q21.31 |
| KIF19 | microtubule-based movement | 17q25.1 |
| KIF1A | cell death; anterograde axon cargo transport; microtubule-based movement | 2q37.3 |
| KIF1B | ATP catabolic process; apoptotic process; microtubule-based movement; neuron-neuron synaptic transmission; anterograde axon cargo transport; neuromuscular synaptic transmission; cytoskeleton-dependent intracellular transport | 1p36.2 |
| KIF1C | retrograde vesicle-mediated transport, Golgi to ER; microtubule-based movement | 17p13.2 |
| KIF20A | mitotic cell cycle; vesicle-mediated transport; M phase of mitotic cell cycle; cytokinesis; microtubule bundle formation; protein transport; microtubule-based movement | 5q31 |
| KIF20B | regulation of mitosis; cell division; M phase of mitotic cell cycle; ATP catabolic process; microtubule-based movement; cell cycle; cell cycle arrest | 10q23.31 |
| KIF21A | microtubule-based movement | 12q12 |
| KIF21B | microtubule-based movement | 1q32.1 |
| KIF22 | blood coagulation; mitosis; microtubule-based movement; DNA repair | 16p11.2 |
| KIF23 | mitosis; microtubule-based movement; blood coagulation; cell cycle cytokinesis; M phase of mitotic cell cycle; mitotic spindle elongation; mitotic cell cycle; spindle midzone assembly involved in mitosis; positive regulation of cell cycle cytokinesis; cytokinesis | 15q23 |
| KIF24 | microtubule-based movement | 9p13.3 |
| KIF25 | microtubule-based movement; organelle organization; mitotic sister chromatid segregation | 6q27 |
| KIF25-AS1 | - | 6q27 |
| KIF26A | negative regulation of signal transduction; microtubule-based movement; regulation of cell growth by extracellular stimulus; enteric nervous system development; blood coagulation | 14q32.33 |
| KIF26B | positive regulation of cell-cell adhesion; establishment of cell polarity; ureteric bud invasion; multicellular organismal development; microtubule-based movement | 1q44 |
| KIF27 | microtubule-based movement; cell projection organization; cilium assembly | 9q21.32 |
| KIF2A | cell division; cell differentiation; blood coagulation; multicellular organismal development; mitotic spindle organization; microtubule-based movement; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; nervous system development | 5q12-q13 |
| KIF2C | cell proliferation; mitotic prometaphase; blood coagulation; M phase of mitotic cell cycle; microtubule-based movement; establishment or maintenance of microtubule cytoskeleton polarity; mitotic cell cycle; cell division; regulation of chromosome segregation; mitosis; microtubule depolymerization | 1p34.1 |
| KIF3A | organelle organization; blood coagulation; cilium assembly; plus-end-directed vesicle transport along microtubule; microtubule-based movement; cell projection organization | 5q31 |
| KIF3B | microtubule-based movement; spindle assembly involved in mitosis; plus-end-directed vesicle transport along microtubule; anterograde axon cargo transport; determination of left/right symmetry; mitotic spindle organization; mitotic centrosome separation; blood coagulation | 20q11.21 |
| KIF3C | microtubule-based movement; blood coagulation | 2p23 |
| KIF4A | organelle organization; axon guidance; blood coagulation; microtubule-based movement; anterograde axon cargo transport | Xq13.1 |
| KIF4CP | - | Xq21.1 |
| KIF5A | microtubule-based movement; synaptic transmission; blood coagulation; cell death | 12q13.13 |
| KIF5B | vesicle transport along microtubule; microtubule-based movement; cytoplasm organization; stress granule disassembly | 10p11.22 |
| KIF5C | organelle organization; microtubule-based movement; motor axon guidance | 2q23.1 |
| KIF6 | microtubule-based movement | 6p21.2 |
| KIF7 | positive regulation of smoothened signaling pathway; negative regulation of smoothened signaling pathway; microtubule-based movement | 15q26.1 |
| KIF9 | blood coagulation; microtubule-based movement | 3p21.31 |
| KIF9-AS1 | - | 3p21.31 |
| KIFAP3 | blood coagulation; protein complex assembly; microtubule-based movement; microtubule-based process; plus-end-directed vesicle transport along microtubule; signal transduction; protein localization; positive regulation of calcium-dependent cell-cell adhesion; negative regulation of cell proliferation | 1q24.2 |
| KIFC1 | cell division; blood coagulation; cell cycle; microtubule-based movement; mitotic sister chromatid segregation | 6p21.3 |
| KIFC2 | microtubule-based movement | 8q24.3 |
| KIFC3 | epithelial cell-cell adhesion; microtubule-based movement; Golgi organization; visual perception; zonula adherens maintenance | 16q13-q21 |
| KIN | mRNA processing; response to stress; DNA repair; DNA replication; DNA recombination; interspecies interaction between organisms; response to DNA damage stimulus | 10p15-p14 |
| KIR2DL1 | immune response; natural killer cell inhibitory signaling pathway; regulation of immune response | 19q13.4 |
| KIR2DL2 | regulation of immune response | 19q13.4 |
| KIR2DL3 | regulation of immune response; immune response | 19q13.4 |
| KIR2DL4 | regulation of immune response; signal transduction; cellular defense response | 19q13.4 |
| KIR2DL5A | - | 19p13.3 |
| KIR2DP1 | - | 19q13.4 |
| KIR2DS1 | immune response; regulation of immune response | 19q13.4 |
| KIR2DS2 | regulation of immune response; immune response | 19q13.4 |
| KIR2DS3 | cellular defense response | 19q13.4 |
| KIR2DS4 | - | 19q13.4 |
| KIR2DS5 | immune response | 19q13.4 |
| KIR3DL1 | regulation of immune response; immune response | 19q13.4 |
| KIR3DL2 | regulation of immune response; cellular defense response | 19q13.4 |
| KIR3DL3 | - | 19q13.42 |
| KIR3DS1 | natural killer cell activation; immune response | 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; negative regulation of cell migration; negative regulation of cell proliferation; G-protein coupled receptor signaling pathway | 1q32 |
| KISS1R | neuropeptide signaling pathway; positive regulation of stress fiber assembly; positive regulation of synaptic transmission; arachidonic acid secretion; positive regulation of hormone secretion; negative regulation of cell migration; activation of MAPKK activity; calcium-mediated signaling; negative regulation of cell proliferation; behavior; G-protein coupled receptor signaling pathway | 19p13.3 |
| KIT | intracellular protein kinase cascade; positive regulation of phosphatidylinositol 3-kinase cascade; positive regulation of phospholipase C activity; positive regulation of gene expression; response to radiation; male gonad development; positive regulation of cell proliferation; spermatid development; positive regulation of tyrosine phosphorylation of Stat5 protein; spermatogenesis; glycosphingolipid metabolic process; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; activation of MAPK activity; myeloid progenitor cell differentiation; lymphoid progenitor cell differentiation; positive regulation of JAK-STAT cascade; regulation of developmental pigmentation; mast cell differentiation; melanocyte differentiation; germ cell programmed cell death; regulation of cell proliferation; positive regulation of tyrosine phosphorylation of Stat1 protein; mast cell proliferation; positive regulation of tyrosine phosphorylation of Stat3 protein; protein autophosphorylation; peptidyl-tyr | 4q11-q12 |
| KITLG | signal transduction; positive regulation of mast cell proliferation; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of Ras protein signal transduction; positive regulation of DNA replication; positive regulation of melanocyte differentiation; positive regulation of MAP kinase activity; negative regulation of apoptotic process; germ cell programmed cell death; cell adhesion; positive regulation of myeloid leukocyte differentiation; neural crest cell migration; ovarian follicle development; cell proliferation; positive regulation of cell proliferation; male gonad development; hemopoiesis; negative regulation of mast cell apoptosis; embryonic hemopoiesis | 12q22 |
| KIZ | spindle organization | 20p11.23 |
| KL | fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway; energy reserve metabolic process; aging; carbohydrate metabolic process; acute inflammatory response; positive regulation of bone mineralization | 13q12 |
| KLB | positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; positive regulation of cell proliferation; carbohydrate metabolic process | 4p14 |
| KLC1 | stress granule disassembly; blood coagulation; microtubule-based movement | 14q32.3 |
| KLC2 | axon cargo transport; microtubule-based movement; blood coagulation | 11q13.2 |
| KLC3 | metabolic process | 19q13 |
| KLC4 | - | 6p21.1 |
| KLF1 | chromatin remodeling; erythrocyte maturation; embryonic hemopoiesis; in utero embryonic development; erythrocyte differentiation; positive regulation of transcription, DNA-dependent; liver development; regulation of transcription, DNA-dependent | 19p13.2 |
| KLF10 | cell proliferation; negative regulation of transcription from RNA polymerase II promoter; skeletal system development; induction of apoptosis; transforming growth factor beta receptor signaling pathway; cell-cell signaling; negative regulation of cell proliferation; bone mineralization; somatic stem cell maintenance; positive regulation of osteoclast differentiation | 8q22.2 |
| KLF11 | positive regulation of apoptotic process; negative regulation of cell proliferation; transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription involved in S phase of mitotic cell cycle | 2p25 |
| KLF12 | 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 | 13q22 |
| KLF13 | positive regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; negative regulation of cell proliferation; negative regulation of erythrocyte differentiation | 15q12 |
| KLF14 | regulation of transcription, DNA-dependent | 7q32.3 |
| KLF15 | positive regulation of transcription from RNA polymerase II promoter; glial cell differentiation; glucose transport | 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 | cellular response to tumor necrosis factor; positive regulation of transcription from RNA polymerase II promoter; response to laminar fluid shear stress; cell morphogenesis; positive regulation of protein metabolic process; positive regulation of transcription, DNA-dependent; cellular response to hydrogen peroxide; cellular response to interleukin-1; multicellular organism growth; in utero embryonic development; erythrocyte maturation; erythrocyte homeostasis; negative regulation of interleukin-6 production | 19p13.11 |
| KLF3 | multicellular organismal development; regulation of transcription, DNA-dependent | 4p14 |
| KLF3-AS1 | - | 4p14 |
| KLF3P1 | - | 5q35.1 |
| KLF3P2 | - | 3q |
| KLF4 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of interleukin-8 biosynthetic process; stem cell maintenance; mesodermal cell fate determination; positive regulation of hemoglobin biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; negative regulation of muscle hyperplasia; negative regulation of smooth muscle cell proliferation; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; epidermis morphogenesis; cellular response to growth factor stimulus; negative regulation of cell migration involved in sprouting angiogenesis; negative regulation of cell proliferation; negative regulation of chemokine (C-X-C motif) ligand 2 production; negative regulation of heterotypic cell-cell adhesion; response to retinoic acid; regulation of cell differentiation; negative regulation of NF-kappaB transcription factor activity; response to chemical stimulus; negative regulation of response to cytokine stimulu | 9q31 |
| KLF5 | positive regulation of transcription, DNA-dependent; microvillus assembly; positive regulation of cell proliferation; transcription from RNA polymerase II promoter; angiogenesis | 13q22.1 |
| KLF6 | regulation of transcription, DNA-dependent; cytokine-mediated signaling pathway; B cell differentiation; 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; dendrite morphogenesis; positive regulation of transcription, DNA-dependent; axon guidance | 2q32 |
| KLF7-IT1 | - | - |
| KLF7P1 | - | 3q26.2 |
| KLF8 | regulation of transcription, DNA-dependent | Xp11.21 |
| KLF9 | cellular response to thyroid hormone stimulus; progesterone receptor signaling pathway; embryo implantation; regulation of transcription from RNA polymerase II promoter | 9q13 |
| KLHDC1 | - | 14q21.3 |
| KLHDC10 | - | 7q32.2 |
| KLHDC2 | - | 14q21.3 |
| KLHDC3 | activation of signaling protein activity involved in unfolded protein response; meiosis; reciprocal meiotic recombination; endoplasmic reticulum unfolded protein response | 6p21.1 |
| KLHDC4 | - | 16q24.3 |
| KLHDC7A | - | 1p36.13 |
| KLHDC7B | - | 22q13.33 |
| KLHDC8A | - | 1q32.1 |
| KLHDC8B | - | 3p21.31 |
| KLHDC9 | - | 1q23.3 |
| KLHL1 | dendrite development; locomotory behavior; adult walking behavior; cerebellar Purkinje cell layer development; actin cytoskeleton organization | 13q21 |
| KLHL11 | - | 17q21.2 |
| KLHL12 | Wnt receptor signaling pathway | 1q32.1 |
| KLHL13 | protein ubiquitination; cytokinesis; cell cycle; mitosis | Xq23-q24 |
| KLHL14 | - | 18q12.1 |
| KLHL15 | - | Xp22.1-p21 |
| KLHL17 | brain development; actin cytoskeleton organization | 1p36.33 |
| KLHL18 | - | 3p21.31 |
| KLHL2 | intracellular protein transport | 4q21.2 |
| KLHL20 | response to interferon-alpha; proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; negative regulation of apoptotic process; cytoskeleton organization | 1q25.1 |
| KLHL21 | protein ubiquitination; anaphase; cytokinesis; cell cycle; mitosis | 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 | B cell receptor signaling pathway; germinal center formation | 3q27.3 |
| KLHL7 | - | 7p15.3 |
| KLHL7-AS1 | - | 7p15.3 |
| KLHL8 | - | 4q22.1 |
| KLHL9 | protein ubiquitination; cell cycle; cytokinesis; mitosis | 9p22 |
| KLK1 | proteolysis | 19q13.3 |
| KLK10 | cell cycle; proteolysis | 19q13 |
| KLK11 | proteolysis | 19q13.33 |
| KLK12 | proteolysis | 19q13.33 |
| KLK13 | proteolysis; protein processing | 19q13.33 |
| KLK15 | proteolysis | 19q13.41 |
| KLK2 | proteolysis | 19q13.41 |
| KLK3 | negative regulation of angiogenesis; proteolysis | 19q13.41 |
| KLK4 | proteolysis | 19q13.41 |
| KLK5 | epidermis development; positive regulation of G-protein coupled receptor protein signaling pathway; proteolysis | 19q13.33 |
| KLK6 | myelination; proteolysis; central nervous system development; response to wounding; protein autoprocessing; collagen catabolic process; tissue regeneration; hormone metabolic process; positive regulation of G-protein coupled receptor protein signaling pathway; regulation of cell differentiation; amyloid precursor protein metabolic process | 19q13.3 |
| KLK7 | epidermis development; proteolysis | 19q13.41 |
| KLK8 | neuron projection morphogenesis; negative regulation of axon regeneration; memory; regulation of synapse organization; keratinocyte proliferation; negative regulation of myelination; response to wounding; cell death; proteolysis | 19q13 |
| KLK9 | proteolysis | 19q13.41 |
| KLKB1 | Factor XII activation; zymogen activation; proteolysis; inflammatory response; blood coagulation; blood coagulation, intrinsic pathway; plasminogen activation; positive regulation of fibrinolysis | 4q35 |
| KLLN | apoptotic process; cell cycle | 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 | regulation of immune response; cell surface receptor signaling pathway | 12p13 |
| KLRF1 | cell surface receptor signaling pathway | 12p13.31 |
| KLRG1 | innate immune response; regulation of immune response; cellular defense response; cell surface receptor signaling pathway; inflammatory response | 12p13.31 |
| KLRG2 | - | 7q34 |
| KLRK1 | - | 12p13.2-p12.3 |
| KMO | small molecule metabolic process; NAD metabolic process; tryptophan catabolic process to kynurenine; pyridine nucleotide biosynthetic process; response to salt stress; tryptophan catabolic process; cellular nitrogen compound metabolic process; kynurenine metabolic process | 1q42-q44 |
| KMT2A | - | 11q23 |
| KMT2B | - | 19q13.1 |
| KMT2C | - | 7q36.1 |
| KMT2D | - | 12q13.12 |
| KMT2E | - | 7q22.1 |
| KMT2E-AS1 | - | 7q22.3 |
| KMT5A | peptidyl-lysine monomethylation; negative regulation of transcription from RNA polymerase II promoter; cell cycle; mitosis; cell division; chromatin modification; negative regulation of transcription, DNA-dependent; regulation of DNA damage response, signal transduction by p53 class mediator; histone lysine methylation | 12q24.31 |
| KMT5B | peptidyl-lysine methylation; chromatin modification; regulation of transcription, DNA-dependent; histone lysine methylation | 11q13.2 |
| KMT5C | peptidyl-lysine methylation; histone methylation; chromatin modification; regulation of transcription, DNA-dependent | 19q13.42 |
| KNCN | - | 1p33 |
| KNDC1 | regulation of small GTPase mediated signal transduction; cerebellar granule cell differentiation; protein phosphorylation; regulation of dendrite morphogenesis; regulation of catalytic activity | 10q26.3 |
| KNG1 | platelet activation; positive regulation of apoptotic process; vasodilation; positive regulation of renal sodium excretion; positive regulation of urine volume; negative regulation of blood coagulation; blood coagulation, intrinsic pathway; blood coagulation; elevation of cytosolic calcium ion concentration; negative regulation of cell adhesion; inflammatory response; smooth muscle contraction; platelet degranulation | 3q27 |
| KNOP1 | - | 16p12.3 |
| KNOP1P1 | - | 12p12.1 |
| KNOP1P4 | - | - |
| KNSTRN | - | 15q15.1 |
| KNTC1 | cell division; protein complex assembly; mitotic cell cycle checkpoint; regulation of exit from mitosis; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle | 12q24.31 |
| KPNA1 | regulation of DNA recombination; viral genome transport in host cell; interspecies interaction between organisms; viral infectious cycle; cytokine-mediated signaling pathway; DNA fragmentation involved in apoptotic nuclear change; NLS-bearing substrate import into nucleus; apoptotic process; cellular component disassembly involved in apoptosis; viral reproduction | 3q21 |
| KPNA2 | interspecies interaction between organisms; cytokine-mediated signaling pathway; NLS-bearing substrate import into nucleus; DNA metabolic process; G2 phase of mitotic cell cycle; M phase specific microtubule process; regulation of DNA recombination | 17q24.2 |
| KPNA3 | interspecies interaction between organisms; cytokine-mediated signaling pathway; NLS-bearing substrate import into nucleus; protein complex assembly | 13q14.3 |
| KPNA4 | cytokine-mediated signaling pathway; NLS-bearing substrate import into nucleus | 3q25.33 |
| KPNA5 | cytokine-mediated signaling pathway; NLS-bearing substrate import into nucleus; protein import into nucleus | 6q22.1 |
| KPNA6 | NLS-bearing substrate import into nucleus | 1p35.1 |
| KPNA7 | cytokine-mediated signaling pathway; protein import into nucleus | 7q22.1 |
| KPNB1 | viral genome transport in host cell; interspecies interaction between organisms; protein import into nucleus, translocation; DNA fragmentation involved in apoptotic nuclear change; 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; protein import into nucleus | 17q21.32 |
| KPRP | - | 1q21.3 |
| KPTN | cellular component movement; sensory perception of sound; actin filament organization | 19q13.32 |
| KRAS | insulin receptor signaling pathway; visual learning; fibroblast growth factor receptor signaling pathway; positive regulation of gene expression; cytokine-mediated signaling pathway; actin cytoskeleton organization; regulation of synaptic transmission, GABAergic; positive regulation of Rac protein signal transduction; social behavior; positive regulation of MAP kinase activity; negative regulation of neuron apoptosis; positive regulation of cell proliferation; blood coagulation; axon guidance; Ras protein signal transduction; small GTPase mediated signal transduction; epidermal growth factor receptor signaling pathway; signal transduction; positive regulation of protein phosphorylation; activation of MAPKK activity; MAPK cascade; leukocyte migration; regulation of long-term neuronal synaptic plasticity; nerve growth factor receptor signaling pathway; positive regulation of nitric-oxide synthase activity; positive regulation of NF-kappaB transcription factor activity; striated muscle cell differentiation; resp | 12p12.1 |
| KRASP1 | - | 6p12.1 |
| KRBA1 | - | 7q36 |
| KRBA2 | regulation of transcription, DNA-dependent; DNA integration | 17p13.1 |
| KRBOX1 | regulation of transcription, DNA-dependent | 3p22.1 |
| KRBOX4 | - | Xp11.3 |
| KRCC1 | - | 2p11.2 |
| KREMEN1 | Wnt receptor signaling pathway; cell communication; regulation of canonical Wnt receptor signaling pathway | 22q12.1 |
| KREMEN2 | Wnt receptor signaling pathway | 16p13.3 |
| KRI1 | - | 19p13.2 |
| KRIT1 | negative regulation of endothelial cell migration; negative regulation of endothelial cell apoptosis; regulation of establishment of cell polarity; cell redox homeostasis; positive regulation of protein binding; negative regulation of angiogenesis; small GTPase mediated signal transduction; negative regulation of endothelial cell proliferation | 7q21.2 |
| KRR1 | rRNA processing | 12q21.2 |
| KRT1 | regulation of angiogenesis; fibrinolysis; epidermis development; response to oxidative stress; complement activation, lectin pathway | 12q13.13 |
| KRT10 | cellular response to calcium ion; keratinocyte differentiation; epidermis development | 17q21 |
| KRT12 | visual perception | 17q12 |
| KRT121P | - | 12q13 |
| KRT126P | - | 12q13.13 |
| KRT13 | tongue morphogenesis; cellular response to retinoic acid; response to radiation; epidermis development | 17q21.2 |
| KRT14 | epidermis development; epithelial cell differentiation; hemidesmosome assembly; cell junction assembly; intermediate filament bundle assembly; response to ionizing radiation; response to zinc ion | 17q21.2 |
| KRT15 | epidermis development | 17q21.2 |
| KRT16 | cell proliferation; epidermis development; intermediate filament cytoskeleton organization; 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 | interspecies interaction between organisms; negative regulation of apoptotic process; Golgi to plasma membrane CFTR protein transport; tumor necrosis factor-mediated signaling pathway; anatomical structure morphogenesis; 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; response to estrogen stimulus; interspecies interaction between organisms; sarcomere organization | 17q21.2 |
| KRT19P1 | - | 6q13 |
| KRT19P2 | - | 12q22 |
| KRT19P3 | - | 4q25 |
| KRT19P4 | - | 10q21.3 |
| KRT2 | keratinocyte proliferation; keratinocyte migration; epidermis development; keratinization; keratinocyte activation | 12q13.13 |
| KRT20 | apoptotic process; cellular response to stress; intermediate filament organization; regulation of protein secretion | 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 | intermediate filament cytoskeleton organization; epithelial cell differentiation; 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 | cytoskeleton organization; epithelial cell differentiation; negative regulation of epithelial cell proliferation | 12q13.13 |
| KRT40 | - | 17q21.2 |
| KRT41P | - | 17q21.2 |
| KRT42P | - | 17q21.2 |
| KRT5 | epidermis development; hemidesmosome assembly; cell junction assembly | 12q13.13 |
| KRT6A | positive regulation of cell proliferation; cell differentiation; 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 | cytoskeleton organization; interspecies interaction between organisms | 12q13 |
| KRT80 | - | 12q13.13 |
| KRT81 | - | 12q13 |
| KRT82 | - | 12q13 |
| KRT83 | epidermis development | 12q13 |
| KRT84 | hair follicle development; nail development; regulation of keratinocyte differentiation | 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 | Ras protein signal transduction; intracellular signal transduction; protein phosphorylation | 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 | tryptophan catabolic process; NAD biosynthetic process; pyridine nucleotide biosynthetic process; tryptophan catabolic process to kynurenine; tryptophan catabolic process to acetyl-CoA; quinolinate biosynthetic process; response to interferon-gamma; response to vitamin B6; cellular nitrogen compound metabolic process; anthranilate metabolic process; small molecule metabolic process | 2q22.2 |
| L1CAM | heterophilic cell-cell adhesion; positive regulation of calcium-mediated signaling; multicellular organismal development; cell surface receptor signaling pathway; leukocyte cell-cell adhesion; homophilic cell adhesion; cell adhesion; chemotaxis; nervous system development; axon guidance; cell death; homotypic cell-cell adhesion; cell-cell adhesion mediated by integrin; leukocyte migration; neuron projection development; cell differentiation; positive regulation of cell-cell adhesion; blood coagulation | Xq28 |
| L1TD1 | - | 1p31.3 |
| L2HGDH | 2-oxoglutarate metabolic process; cellular protein metabolic process; small molecule metabolic process | 14q21.3 |
| L3HYPDH | - | 14q23.1 |
| L3MBTL1 | chromatin modification; regulation of megakaryocyte differentiation; regulation of mitosis; hemopoiesis; regulation of cell cycle; negative regulation of transcription, DNA-dependent | 20q13.12 |
| L3MBTL2 | regulation of transcription, DNA-dependent; chromatin modification | 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 | positive regulation of secretion; tear secretion; positive regulation of NFAT protein import into nucleus; positive regulation of release of sequestered calcium ion into cytosol; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of epithelial cell proliferation; protein localization in Golgi apparatus; positive regulation of cell proliferation; calcium-mediated signaling; calcineurin-NFAT signaling cascade | 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 | signal transduction; induction of apoptosis; cell-cell signaling; defense response to bacterium; lactose biosynthetic process | 12q13 |
| LAMA1 | retinal blood vessel morphogenesis; branching involved in salivary gland morphogenesis; regulation of cell adhesion; tissue development; epithelial tube branching involved in lung morphogenesis; retina development in camera-type eye; regulation of embryonic development; axon guidance; regulation of cell migration; morphogenesis of an epithelial sheet; cell surface receptor signaling pathway; establishment of epithelial cell apical/basal polarity; neuron projection development | 18p11.3 |
| LAMA2 | muscle organ development; regulation of cell adhesion; regulation of cell migration; positive regulation of synaptic transmission, cholinergic; regulation of embryonic development | 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 | regulation of cell migration; brown fat cell differentiation; regulation of embryonic development; regulation of cell adhesion; blood vessel development | 6q21 |
| LAMA5 | cell migration; regulation of cell adhesion; cell differentiation; lung development; regulation of cell migration; substrate adhesion-dependent cell spreading; regulation of cell proliferation; cilium assembly; odontogenesis of dentin-containing tooth; endothelial cell differentiation; regulation of embryonic development; focal adhesion assembly; branching involved in salivary gland morphogenesis; establishment of protein localization in plasma membrane; organ morphogenesis; morphogenesis of embryonic epithelium; angiogenesis; branching involved in ureteric bud morphogenesis; morphogenesis of a polarized epithelium; neural crest cell migration; hair follicle development; cytoskeleton organization; integrin-mediated signaling pathway; muscle organ development; cell recognition; cell proliferation; embryo development | 20q13.2-q13.3 |
| LAMA5-AS1 | - | - |
| LAMB1 | positive regulation of epithelial cell proliferation; cell adhesion; odontogenesis; substrate adhesion-dependent cell spreading; neuron projection development; positive regulation of cell migration; embryo implantation; axon guidance; negative regulation of cell adhesion | 7q22 |
| LAMB2 | neuron projection development; metanephric glomerular basement membrane development; metanephric glomerular visceral epithelial cell development; retina development in camera-type eye; axon extension involved in regeneration; Schwann cell development; astrocyte development; visual perception; neuromuscular junction development; cell adhesion; cell morphogenesis involved in differentiation | 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 | substrate adhesion-dependent cell spreading; positive regulation of epithelial cell proliferation; hemidesmosome assembly; neuron projection development; extracellular matrix disassembly; cell migration; axon guidance; cell adhesion; protein complex assembly; endoderm development | 1q31 |
| LAMC2 | cell adhesion; epidermis development; hemidesmosome assembly; cell junction assembly | 1q25-q31 |
| LAMC3 | astrocyte development; cell morphogenesis involved in differentiation; cell adhesion; visual perception; retina development in camera-type eye | 9q31-q34 |
| LAMP1 | autophagy; autophagic cell death | 13q34 |
| LAMP2 | platelet degranulation; platelet activation; blood coagulation | Xq24 |
| LAMP3 | cell proliferation | 3q26.3-q27 |
| LAMP5 | - | 20p12 |
| LAMP5-AS1 | - | - |
| LAMTOR1 | cellular response to amino acid stimulus; regulation of cholesterol import; positive regulation of MAPK cascade; cholesterol homeostasis; cellular protein localization; endosome localization; lysosome localization; positive regulation of TOR signaling cascade; regulation of cholesterol efflux; cell growth; regulation of cholesterol esterification; lysosome organization; endosome organization; regulation of receptor recycling | 11q13.4 |
| LAMTOR2 | activation of MAPKK activity; cell growth; positive regulation of TOR signaling cascade; cellular protein localization; cellular response to amino acid stimulus | 1q22 |
| LAMTOR3 | positive regulation of TOR signaling cascade; cellular response to amino acid stimulus; cellular protein localization | 4q23 |
| LAMTOR3P1 | - | 13q13.3 |
| LAMTOR4 | - | 7q22.1 |
| LAMTOR5 | - | 1p13.3 |
| LAMTOR5-AS1 | - | 1p13.3 |
| LANCL1 | G-protein coupled receptor signaling pathway | 2q33-q35 |
| LANCL2 | positive regulation of abscisic acid mediated signaling pathway; negative regulation of transcription, DNA-dependent | 7q31.1-q31.33 |
| LANCL3 | - | Xp21.1 |
| LAP3 | metabolic process; proteolysis | 4p15.32 |
| LAPTM4A | transport | 2p24.1 |
| LAPTM4B | transport | 8q22.1 |
| LAPTM5 | transport | 1p34 |
| LARGE | glycosphingolipid biosynthetic process; muscle cell homeostasis; N-acetylglucosamine metabolic process; protein glycosylation; glycoprotein biosynthetic 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 | RNA processing; regulation of translation | 15q23 |
| LARP7 | RNA processing | 4q25 |
| LARS | gene expression; leucyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 5q32 |
| LARS2 | gene expression; leucyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 3p21.3 |
| LAS1L | rRNA processing | Xq12 |
| LASP1 | ion transmembrane transport; ion transport | 17q11-q21.3 |
| LAT | mast cell degranulation; T cell activation; immune response; integrin-mediated signaling pathway; Ras protein signal transduction; blood coagulation; calcium-mediated signaling; platelet activation; intracellular signal transduction; regulation of T cell activation; T cell receptor 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 | cell division; cytoplasmic sequestering of protein; G2/M transition of mitotic cell cycle; hormone-mediated signaling pathway; regulation of actin filament polymerization; positive regulation of peptidyl-serine phosphorylation; hippo signaling cascade; regulation of protein complex assembly; mitosis; cell cycle; protein phosphorylation; sister chromatid segregation; negative regulation of cyclin-dependent protein kinase activity; negative regulation of canonical Wnt receptor signaling pathway | 6q25.1 |
| LATS2 | keratinocyte differentiation; hormone-mediated signaling pathway; intracellular protein kinase cascade; mitosis; cell cycle; protein phosphorylation; G1/S transition of mitotic cell cycle; cellular protein localization; hippo signaling cascade; negative regulation of cyclin-dependent protein kinase activity; regulation of organ growth; cell division; negative regulation of canonical Wnt receptor signaling pathway | 13q11-q12 |
| LATS2-AS1 | - | - |
| LAX1 | negative regulation of T cell activation; B cell activation; intracellular signal transduction; immune response; inactivation of MAPK activity | 1q32.1 |
| LAYN | - | 11q23.1 |
| LBH | multicellular organismal development; positive regulation of transcription, DNA-dependent | 2p23.1 |
| LBHD1 | - | 11q12.3 |
| LBP | opsonization; Toll signaling pathway; lipopolysaccharide transport; lipopolysaccharide-mediated signaling pathway; detection of molecule of bacterial origin; response to lipopolysaccharide; negative regulation of tumor necrosis factor production; positive regulation of chemokine production; positive regulation of interleukin-6 production; positive regulation of interleukin-8 production; 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; positive regulation of neutrophil chemotaxis; macrophage activation involved in | 20q11.23 |
| LBR | oxidation-reduction process; small molecule metabolic process; cholesterol biosynthetic process | 1q42.1 |
| LBX1 | multicellular organismal development; neuron fate determination; negative regulation of neuron differentiation; cell differentiation; heart looping; regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification; muscle organ development; anatomical structure morphogenesis; negative regulation of cell proliferation; nervous system development | 10q24 |
| LBX1-AS1 | - | 10q24.31 |
| LBX2 | - | 2p13.1 |
| LBX2-AS1 | - | 2p13.1 |
| LCA5 | protein transport | 6q14.1 |
| LCA5L | - | 21q22.2 |
| LCAT | cholesterol transport; cholesterol metabolic process; steroid metabolic process; phosphatidylcholine biosynthetic process; phospholipid metabolic process; lipid metabolic process; very-low-density lipoprotein particle remodeling; high-density lipoprotein particle remodeling; cholesterol esterification; lipoprotein metabolic process; lipoprotein biosynthetic process; cholesterol homeostasis; reverse cholesterol transport; small molecule metabolic process; response to copper ion; response to glucocorticoid stimulus; regulation of high-density lipoprotein particle assembly | 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 | platelet activation; hemopoiesis; peptidyl-tyrosine phosphorylation; viral reproduction; response to zinc ion; response to mechanical stimulus; blood coagulation; regulation of defense response to virus by virus; positive regulation of uterine smooth muscle contraction; regulation of lymphocyte activation; release of sequestered calcium ion into cytosol; leukocyte migration; positive regulation of T cell activation; positive regulation of T cell receptor signaling pathway; B cell receptor signaling pathway; T cell receptor signaling pathway; T cell differentiation; protein autophosphorylation; positive regulation of gamma-delta T cell differentiation; interspecies interaction between organisms; response to hydrogen peroxide; positive regulation of tyrosine phosphorylation of Stat5 protein; response to drug; peptidyl-tyrosine dephosphorylation; T cell costimulation; cell surface receptor signaling pathway; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; | 1p34.3 |
| LCLAT1 | phospholipid biosynthetic process; metabolic process; multicellular organismal development | 2p23.1 |
| LCMT1 | C-terminal protein methylation; protein modification process | 16p12.1 |
| LCMT2 | tRNA processing | 15q15.3 |
| LCN1 | proteolysis; sensory perception of taste; response to stimulus | 9q34 |
| LCN10 | transport | 9q34.3 |
| LCN12 | lipid metabolic process | 9q34.3 |
| LCN15 | lipid metabolic process | 9q34.3 |
| LCN2 | regulation of apoptotic process; siderophore transport; ion transport; innate immune response; iron ion homeostasis | 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 | transmembrane receptor protein tyrosine kinase signaling pathway; immune response; blood coagulation; platelet activation; mast cell activation; cytokine secretion; T cell receptor signaling pathway | 5q35.1 |
| LCT | response to sucrose stimulus; response to hypoxia; carbohydrate metabolic process; response to nutrient; response to hormone stimulus; response to nickel cation; response to lead ion; response to drug; response to starvation; response to estrogen stimulus; polysaccharide digestion; small molecule metabolic process; response to ethanol | 2q21 |
| LCTL | carbohydrate metabolic process | 15q22.31 |
| LDAH | - | 2p24.1 |
| LDB1 | histone H3-K4 acetylation; 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; cellular component assembly; cerebellum development; neuron differentiation; anterior/posterior axis specification; epithelial structure maintenance; Wnt receptor signaling pathway; somatic stem cell maintenance; negative regulation of erythrocyte differentiation; positive regulation of cell adhesion; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of hemoglobin biosynthetic process; head development; regulation of transcription elongation, DNA-dependent; cerebellar Purkinje cell differentiation | 10q24-q25 |
| LDB2 | positive regulation of cellular component biogenesis; epithelial structure maintenance; somatic stem cell maintenance; positive regulation of transcription from RNA polymerase II promoter; hair follicle development | 4p16 |
| LDB3 | - | 10q22.3-q23.2 |
| LDHA | small molecule metabolic process; pyruvate metabolic process; glycolysis; cellular carbohydrate 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 | pyruvate metabolic process; small molecule metabolic process; lactate metabolic process; cellular carbohydrate metabolic process; glycolysis; NAD metabolic process | 12p12.2-p12.1 |
| LDHBP1 | - | 13q34 |
| LDHBP2 | - | Xq13.3 |
| LDHC | cellular carbohydrate metabolic process; glycolysis | 11p15.1 |
| LDHD | - | 16q23.1 |
| LDLR | regulation of phosphatidylcholine catabolic process; lipid metabolic process; transport; endocytosis; receptor-mediated endocytosis; steroid metabolic process; cholesterol metabolic process; positive regulation of triglyceride biosynthetic process; phospholipid transport; intestinal cholesterol absorption; cholesterol transport; low-density lipoprotein particle clearance; lipoprotein metabolic process; cholesterol homeostasis; small molecule metabolic process; interspecies interaction between organisms; cholesterol import | 19p13.2 |
| LDLRAD1 | - | 1p32.3 |
| LDLRAD2 | - | 1p36.12 |
| LDLRAD3 | - | 11p13 |
| LDLRAD4 | - | 18p11.21 |
| LDLRAP1 | 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; positive regulation of cholesterol metabolic process; regulation of protein binding; amyloid precursor protein metabolic process; transport; cholesterol homeostasis; receptor internalization; positive regulation of signal transduction; steroid metabolic process; receptor-mediated endocytosis | 1p36-p35 |
| LDOC1 | negative regulation of cell proliferation | Xq27 |
| LDOC1L | - | 22q13.31 |
| LEAP2 | defense response to bacterium | 5q31.1 |
| LECT1 | multicellular organismal development; endothelial cell morphogenesis; negative regulation of endothelial cell proliferation; negative regulation of angiogenesis; cell differentiation; negative regulation of vascular endothelial growth factor receptor signaling pathway; proteoglycan metabolic process; cartilage development; skeletal system development | 13q14.3 |
| LECT2 | skeletal system development; chemotaxis | 5q31.1 |
| LEF1 | mammary gland development; formation of radial glial scaffolds; neurogenesis; forebrain neuron differentiation; forebrain neuroblast division; forebrain radial glial cell differentiation; hypothalamus development; skin development; dentate gyrus development; organ regeneration; negative regulation of interleukin-13 production; negative regulation of interleukin-4 production; negative regulation of interleukin-5 production; T cell receptor V(D)J recombination; B cell proliferation; odontogenesis of dentin-containing tooth; negative regulation of apoptotic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of DNA binding; tongue development; positive regulation of cell cycle process; brain development; negative regulation of transcription from RNA polymerase II promoter; patterning of blood vessels; osteoblast differentiation; neural crest cell migration; somitogenesis; kidney development; epithelial to mesenchymal transition; vasculature deve | 4q23-q25 |
| LEF1-AS1 | - | 4q25 |
| LEFTY1 | transforming growth factor beta receptor signaling pathway; heart morphogenesis; multicellular organismal development; determination of left/right symmetry; cell growth; negative regulation of transcription from RNA polymerase II promoter | 1q42.1 |
| LEFTY2 | platelet degranulation; transforming growth factor beta receptor signaling pathway; multicellular organismal development; blood coagulation; cell growth; platelet activation | 1q42.1 |
| LEKR1 | - | 3q25.31 |
| LELP1 | - | 1q21.3 |
| LEMD1 | - | 1q32.1 |
| LEMD2 | skeletal muscle cell differentiation | 6p21.31 |
| LEMD3 | negative regulation of BMP signaling pathway; negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of activin receptor signaling pathway | 12q14 |
| LENG1 | - | 19q13.4 |
| LENG8 | - | 19q13.42 |
| LENG8-AS1 | - | 19q13.42 |
| LENG9 | RNA metabolic process | 19q13.4 |
| LEO1 | histone monoubiquitination; histone H2B ubiquitination; regulation of transcription, DNA-dependent | 15q21.2 |
| LEP | regulation of intestinal cholesterol absorption; bile acid metabolic process; regulation of protein phosphorylation; regulation of blood pressure; positive regulation of cell proliferation; adult feeding behavior; fatty acid catabolic process; negative regulation of metabolic process; central nervous system neuron development; negative regulation of appetite; response to insulin stimulus; response to vitamin E; leptin-mediated signaling pathway; positive regulation of luteinizing hormone secretion; intracellular signal transduction; bone mineralization involved in bone maturation; hormone metabolic process; positive regulation of follicle-stimulating hormone secretion; adipose tissue development; regulation of lipoprotein lipid oxidation; negative regulation of amino acid transport; leukocyte tethering or rolling; positive regulation of cell activation; regulation of steroid biosynthetic process; regulation of insulin secretion; positive regulation of developmental growth; positive regulation of tyrosine phos | 7q31.3 |
| LEPR | energy reserve metabolic process; negative regulation of hydrolase activity; cholesterol metabolic process; multicellular organismal development; cell surface receptor signaling pathway | 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 | signal transduction; apoptotic process; negative regulation of neuron projection development; cellular response to organic cyclic compound; cellular response to glucose stimulus; response to axon injury; myoblast differentiation; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; response to drug; positive regulation of erythrocyte aggregation; multicellular organismal response to stress; negative regulation of cell-substrate adhesion | 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 | apoptotic process; heterophilic cell-cell adhesion | 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 | protein homooligomerization; positive regulation of synaptic transmission; neuron projection development; positive regulation of cell growth; cell proliferation; axon guidance; nervous system development | 10q24 |
| LGI2 | - | 4p15.2 |
| LGI3 | regulation of exocytosis | 8p21.3 |
| LGI4 | adult locomotory behavior; myelination in peripheral nervous system; neuron maturation | 19q13.12|19q13.11 |
| LGMN | response to acid; proteolysis; steroid metabolic process; negative regulation of multicellular organism growth; vitamin D metabolic process; negative regulation of neuron apoptosis; small molecule metabolic process | 14q32.1 |
| LGMNP1 | - | 13q21.31 |
| LGR4 | negative regulation of transcription, DNA-dependent; G-protein coupled receptor signaling pathway; tube morphogenesis; male genitalia development; metanephric glomerulus development; cell differentiation involved in metanephros development; canonical Wnt receptor signaling pathway involved in metanephric kidney development; epithelial cell proliferation; positive regulation of transcription, DNA-dependent; metanephric nephron tubule morphogenesis; positive regulation of branching involved in ureteric bud morphogenesis | 11p14-p13 |
| LGR5 | G-protein coupled receptor signaling pathway | 12q22-q23 |
| LGR6 | - | 1q32.1 |
| LGSN | glutamine biosynthetic process; nitrogen compound metabolic process | 6pter-q22.33 |
| LHB | peptide hormone processing; small molecule metabolic process; cellular nitrogen compound metabolic process; male gonad development; cell-cell signaling; signal transduction; progesterone biosynthetic process | 19q13.32 |
| LHCGR | ovarian follicle development; protein targeting to lysosome; G-protein coupled receptor signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of adenylate cyclase activity; spermatogenesis; regulation of steroid hormone biosynthetic process; seminiferous tubule development; 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; male genitalia development; hormone-mediated signaling pathway; male gonad development; central nervous system development; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger | 2p21 |
| LHFP | - | 13q12 |
| LHFPL1 | - | Xq23 |
| LHFPL2 | - | 5q14.1 |
| LHFPL3 | - | 7q22.2 |
| LHFPL3-AS1 | - | 7q22.1 |
| LHFPL3-AS2 | - | - |
| LHFPL4 | - | 3p25.3 |
| LHPP | protein dephosphorylation; metabolic process; phosphate-containing compound metabolic process | 10q26.13 |
| LHX1 | cellular response to fibroblast growth factor stimulus; regulation of gene expression; negative regulation of transcription, DNA-dependent; cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation; metanephric comma-shaped body morphogenesis; retina layer formation; ventral spinal cord development; spinal cord association neuron differentiation; telencephalon development; cerebellum development; cerebellar Purkinje cell differentiation; forebrain regionalization; positive regulation of embryonic development; cell differentiation; somite rostral/caudal axis specification; metanephric ureteric bud development; oviduct epithelium development; uterine epithelium development; nephric duct elongation; horizontal cell localization; vagina development; metanephric glomerulus development; nephric duct morphogenesis; mesonephric duct development; renal vesicle morphogenesis; S-shaped body morphogenesis; comma-shaped body morphogenesis; paramesone | 17q12 |
| LHX2 | anatomical structure formation involved in morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; mesoderm development; negative regulation of transcription regulatory region DNA binding; neuron differentiation; telencephalon regionalization; dorsal/ventral pattern formation; brain development; axon guidance; neural tube closure; neurogenesis | 9q33.3 |
| LHX3 | organ morphogenesis; positive regulation of transcription, DNA-dependent; inner ear development | 9q34.3 |
| LHX4 | motor axon guidance; anti-apoptosis; organ morphogenesis; medial motor column neuron differentiation | 1q25.2 |
| LHX4-AS1 | - | - |
| LHX5 | regulation of cell proliferation; cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation; forebrain neuron differentiation; positive regulation of transcription, DNA-dependent; spinal cord association neuron differentiation; cerebellum development; cerebellar Purkinje cell differentiation; cell proliferation in forebrain; hippocampus development | 12q24 |
| LHX6 | multicellular organismal development; cell maturation; cell differentiation; cerebral cortex neuron differentiation; forebrain neuron development; forebrain neuron fate commitment; regulation of transcription, DNA-dependent; cerebral cortex GABAergic interneuron migration; cerebral cortex tangential migration; nervous system development; cerebral cortex radially oriented cell migration | 9q33.2 |
| LHX8 | odontogenesis of dentin-containing tooth; forebrain neuron development; female gonad development; learning or memory | 1p31.1 |
| LHX9 | negative regulation of transcription, DNA-dependent; gonad morphogenesis; female gonad development; motor axon guidance; cell proliferation; male gonad development | 1q31.1 |
| LIAS | neural tube closure; inflammatory response; response to oxidative stress; lipoate biosynthetic process; response to lipopolysaccharide | 4p14 |
| LIF | positive regulation of peptidyl-serine phosphorylation; lung alveolus development; positive regulation of peptidyl-serine phosphorylation of STAT protein; positive regulation of tyrosine phosphorylation of Stat1 protein; positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of MAPK cascade; regulation of cell differentiation; positive regulation of macrophage differentiation; negative regulation of meiosis; positive regulation of transcription from RNA polymerase II promoter; decidualization; transdifferentiation; muscle organ morphogenesis; neuron development; positive regulation of astrocyte differentiation; leukemia inhibitory factor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of corticotropin secretion; retina development in camera-type eye; maternal process involved in female pregnancy; regulation of metanephric nephron tubule epithelial cell differentiation; lung vasculature development; lung lobe morphogenesis; trophob | 22q12.2 |
| LIFR | cell surface receptor signaling pathway; positive regulation of cell proliferation; cytokine-mediated signaling pathway; ciliary neurotrophic factor-mediated signaling pathway; organ regeneration; response to cytokine stimulus; response to chemical stimulus; positive regulation of anti-apoptosis; neuron projection morphogenesis; leukemia inhibitory factor signaling pathway | 5p13-p12 |
| LIG1 | telomere maintenance via recombination; telomere maintenance; S phase of mitotic cell cycle; double-strand break repair via homologous recombination; DNA metabolic process; DNA replication; DNA ligation; DNA strand elongation involved in DNA replication; DNA repair; transcription-coupled nucleotide-excision repair; base-excision repair; nucleotide-excision repair; nucleotide-excision repair, DNA gap filling; double-strand break repair; DNA recombination; anatomical structure morphogenesis; telomere maintenance via semi-conservative replication; V(D)J recombination; DNA ligation involved in DNA repair; cell division; mitotic cell cycle | 19q13.2-q13.3 |
| LIG3 | V(D)J recombination; DNA replication; DNA ligation; DNA repair; base-excision repair; DNA recombination; cell cycle; reciprocal meiotic recombination; spermatogenesis; DNA ligation involved in DNA repair; cell division | 17q11.2-q12 |
| LIG4 | cellular response to lithium ion; response to X-ray; cell proliferation; central nervous system development; cell cycle; double-strand break repair via nonhomologous end joining; double-strand break repair; somatic stem cell maintenance; positive regulation of neurogenesis; response to gamma radiation; viral reproduction; provirus integration; initiation of viral infection; T cell differentiation in thymus; V(D)J recombination; T cell receptor V(D)J recombination; neuron apoptosis; negative regulation of neuron apoptosis; isotype switching; positive regulation of fibroblast proliferation; DNA ligation involved in DNA recombination; DNA ligation involved in DNA repair; chromosome organization; cell division; DNA repair; nucleotide-excision repair, DNA gap filling; single strand break repair; in utero embryonic development; pro-B cell differentiation; DNA replication; DNA ligation | 13q33-q34 |
| LILRA1 | defense response; cell surface receptor signaling pathway; regulation of immune response | 19q13.4 |
| LILRA2 | defense response; signal transduction | 19q13.4 |
| LILRA4 | - | 19q13.4 |
| LILRA5 | innate immune response | 19q13.4 |
| LILRB1 | negative regulation of transforming growth factor-beta secretion; defense response to virus; regulation of immune response; negative regulation of alpha-beta T cell activation; negative regulation of cell cycle; negative regulation of endocytosis; positive regulation of cytolysis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of natural killer cell mediated cytotoxicity; positive regulation of gene expression; negative regulation of T cell mediated cytotoxicity; interferon-gamma production; negative regulation of dendritic cell apoptosis; negative regulation of interleukin-10 secretion; negative regulation of interferon-gamma production; negative regulation of mononuclear cell proliferation; T cell proliferation involved in immune response; negative regulation of cytokine secretion involved in immune response; immune response-inhibiting cell surface receptor signaling pathway; negative regulation of interferon-beta secretion; negative regulation of T cell proliferat | 19q13.4 |
| LILRB2 | Fc receptor mediated inhibitory signaling pathway; negative regulation of T cell proliferation; negative regulation of antigen processing and presentation; positive regulation of T cell tolerance induction; regulation of dendritic cell differentiation; cellular response to lipopolysaccharide; negative regulation of calcium ion transport; regulation of immune response; positive regulation of regulatory T cell differentiation; positive regulation of T cell proliferation; heterotypic cell-cell adhesion; positive regulation of interleukin-6 production; cell-cell signaling; cell surface receptor signaling pathway; signal transduction; cellular defense response; immune response; immune response-inhibiting cell surface receptor signaling pathway | 19q13.4 |
| LILRB3 | negative regulation of osteoclast differentiation; cell surface receptor signaling pathway; defense response | 19q13.4 |
| LILRB4 | signal transduction; negative regulation of osteoclast differentiation | 19q13.4 |
| LILRB5 | defense response; cell surface receptor signaling pathway | 19q13.4 |
| LILRP2 | - | 19q13.4 |
| LIM2 | cell-cell junction assembly; lens development in camera-type eye | 19q13.4 |
| LIMA1 | actin filament bundle assembly; ruffle organization; negative regulation of actin filament depolymerization | 12q13 |
| LIMCH1 | actomyosin structure organization | 4p13 |
| LIMD1 | multicellular organismal development; regulation of transcription, DNA-dependent; cytoskeleton organization; signal transduction; regulation of cell shape; cell migration; cytoplasmic mRNA processing body assembly; gene silencing by miRNA; negative regulation of transcription, DNA-dependent | 3p21.3 |
| LIMD1-AS1 | - | 3p21.31 |
| LIMD2 | - | 17q23.3 |
| LIME1 | B cell receptor signaling pathway; regulation of MAP kinase activity; regulation of I-kappaB kinase/NF-kappaB cascade; regulation of NF-kappaB import into nucleus; regulation of phosphatidylinositol 3-kinase cascade; regulation of transcription from RNA polymerase II promoter; regulation of release of sequestered calcium ion into cytosol | 20q13.3 |
| LIMK1 | Rho protein signal transduction; signal transduction; nervous system development; protein phosphorylation; axon guidance; actin cytoskeleton organization; positive regulation of actin filament bundle assembly; positive regulation of axon extension; negative regulation of ubiquitin-protein ligase activity | 7q11.23 |
| LIMK2 | regulation of phosphorylation; phosphorylation; spermatogenesis | 22q12.2 |
| LIMS1 | negative regulation of transcription, DNA-dependent; cell junction assembly; cell aging; cellular response to transforming growth factor beta stimulus | 2q12.3 |
| LIMS2 | cell junction assembly | 2q14.3 |
| LIMS3-LOC440895 | - | 2q13 |
| LIN28A | stem cell maintenance; miRNA catabolic process; germ cell development; gene silencing by RNA; RNA 3'-end processing; pre-miRNA processing; positive regulation of neuron differentiation; negative regulation of glial cell differentiation; positive regulation of translation; stem cell differentiation; regulation of transcription, DNA-dependent | 1p36.11 |
| LIN28AP2 | - | 13q31.2 |
| LIN28B | RNA 3'-end processing; pre-miRNA processing; gene silencing by RNA; miRNA catabolic process; regulation of transcription, DNA-dependent | 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 | protein transport; neurotransmitter secretion; exocytosis | 19q13.3 |
| LIN7C | exocytosis; neurotransmitter secretion; protein transport | 11p14 |
| LIN9 | mitotic cell cycle; DNA replication | 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; negative regulation of axonogenesis; regulation of axonogenesis; neuron projection development; central nervous system neuron development; negative regulation of oligodendrocyte differentiation; nerve growth factor receptor signaling pathway | 15q24.3 |
| LINGO2 | - | 9p21.2 |
| LINGO3 | - | 19p13.3 |
| LINGO4 | - | 1q21.3 |
| LINS1 | - | 15q26.3 |
| LIPA | lung development; homeostasis of number of cells within a tissue; tissue remodeling; sterol metabolic process; lipid catabolic process; cell proliferation; inflammatory response; fatty acid metabolic process; lipid metabolic process; cytokine production; cell morphogenesis | 10q23.2-q23.3 |
| LIPC | triglyceride catabolic process; lipid catabolic process; cholesterol metabolic process; fatty acid biosynthetic process; very-low-density lipoprotein particle remodeling; intermediate-density lipoprotein particle remodeling; low-density lipoprotein particle remodeling; high-density lipoprotein particle remodeling; chylomicron remnant clearance; phosphatidylcholine catabolic process; cholesterol homeostasis; reverse cholesterol transport; triglyceride homeostasis | 15q21-q23 |
| LIPE | protein phosphorylation; lipid metabolic process; female pregnancy; steroid metabolic process; cholesterol metabolic process; lipid catabolic process; triglyceride catabolic process; response to drug; small molecule metabolic process; diacylglycerol catabolic process | 19q13.2 |
| LIPE-AS1 | - | - |
| LIPG | positive regulation of cholesterol transport; high-density lipoprotein particle remodeling; cholesterol homeostasis; reverse cholesterol transport; regulation of lipoprotein metabolic process; phospholipid homeostasis; positive regulation of high-density lipoprotein particle clearance; cell proliferation; phospholipid catabolic process; lipid catabolic process; response to nutrient; lipid metabolic process | 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; apoptotic process; regulation of transcription from RNA polymerase II promoter; positive regulation of I-kappaB kinase/NF-kappaB cascade | 16p13.13 |
| LIX1 | - | 5q15 |
| LIX1L | - | 1q21.1 |
| LLGL1 | maintenance of apical/basal cell polarity; protein complex assembly; exocytosis; cortical actin cytoskeleton organization | 17p11.2 |
| LLGL2 | exocytosis; cell cycle; regulation of establishment or maintenance of cell polarity; cell division | 17q25.1 |
| LLPH | - | 12q14.3 |
| LMAN1 | post-translational protein modification; protein folding; cellular protein metabolic process; early endosome to Golgi transport; protein exit from endoplasmic reticulum; protein N-linked glycosylation via asparagine; vesicle-mediated transport; protein transport; positive regulation of organelle organization; blood coagulation; Golgi organization; ER to Golgi vesicle-mediated transport | 18q21.3-q22 |
| LMAN1L | - | 15q24.1 |
| LMAN2 | protein transport | 5q35.3 |
| LMAN2L | protein folding; protein transport; ER to Golgi vesicle-mediated transport | 2q11.2 |
| LMBR1 | embryonic digit morphogenesis | 7q36 |
| LMBR1L | endocytosis | 12q13.12 |
| LMBRD1 | transport; interspecies interaction between organisms | 6q13 |
| LMBRD2 | - | 5p13.2 |
| LMCD1 | regulation of cardiac muscle hypertrophy; positive regulation of calcineurin-NFAT signaling cascade; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 3p26-p24 |
| LMCD1-AS1 | - | 3p26.1 |
| LMF1 | regulation of triglyceride metabolic process; protein maturation; positive regulation of lipoprotein lipase activity; chylomicron remnant clearance; protein glycosylation in Golgi; regulation of cholesterol metabolic process; protein secretion; ER to Golgi vesicle-mediated transport | 16p13.3 |
| LMF2 | - | 22q13.33 |
| LMLN | cell adhesion; mitosis; cell division; cell cycle; proteolysis | 3q29 |
| LMNA | protein localization to nucleus; sterol regulatory element binding protein import into nucleus; endoplasmic reticulum unfolded protein response; establishment or maintenance of microtubule cytoskeleton polarity; regulation of cell migration; muscle organ development; spermatogenesis; nuclear envelope organization; activation of signaling protein activity involved in unfolded protein response; cellular component disassembly involved in apoptosis; apoptotic process; regulation of apoptotic process; ventricular cardiac muscle cell development; cellular response to hypoxia; positive regulation of cell aging | 1q22 |
| LMNB1 | cellular component disassembly involved in apoptosis; apoptotic process | 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 | negative regulation of erythrocyte differentiation; transcription from RNA polymerase II promoter; cellular response to thyroid hormone stimulus; positive regulation of transcription from RNA polymerase II promoter; multicellular organismal development | 11p13 |
| LMO3 | regulation of transcription, DNA-dependent | 12p12.3 |
| LMO4 | neural tube closure; positive regulation of transcription from RNA polymerase II promoter; thymus development; regulation of cell activation; regulation of cell fate specification; negative regulation of protein complex assembly; spinal cord association neuron differentiation; spinal cord motor neuron differentiation; ventral spinal cord interneuron differentiation; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; ventricular septum development | 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 | peptidyl-serine phosphorylation; protein autophosphorylation; early endosome to late endosome transport; transferrin transport; endocytic recycling; peptidyl-threonine phosphorylation; protein phosphorylation; receptor recycling | 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 | in utero embryonic development; multicellular organismal development; dorsal/ventral pattern formation; neuron differentiation; regulation of transcription, DNA-dependent | 9q33.3 |
| LNP1 | - | 3q12.2 |
| LNPEP | antigen processing and presentation of exogenous peptide antigen via MHC class I; protein catabolic process; female pregnancy; cell-cell signaling; proteolysis; 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; protein polyubiquitination | 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 |
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| LOC647030 | - | 7q32.3 |
| LOC647070 | - | 1q25.3 |
| LOC647077 | - | 2p15 |
| LOC647983 | - | 18p11.21 |
| LOC648149 | - | 2q34 |
| LOC648442 | - | 7q31.31 |
| LOC648570 | - | 9p22.2 |
| LOC648987 | - | 5p12 |
| LOC649133 | - | 11q23.3 |
| LOC649294 | - | 8p23.1 |
| LOC649352 | - | 8p23.1 |
| LOC649671 | - | 1q23.3 |
| LOC649873 | - | 17p12 |
| LOC650226 | - | 7p11.2 |
| LOC651144 | - | 10q26.12 |
| LOC651337 | - | 9q34.3 |
| LOC652276 | - | 16p13.3 |
| LOC652549 | - | 1p31.1 |
| LOC652993 | - | 12q21 |
| LOC653080 | - | 5q13.2 |
| LOC653160 | - | 1p34.3 |
| LOC653354 | - | Xq22.1 |
| 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; mitochondrial genome maintenance; response to hypoxia; misfolded or incompletely synthesized protein catabolic process; mitochondrion organization; mitochondrial DNA metabolic process; oxidation-dependent protein catabolic process; proteolysis involved in cellular protein catabolic process; cellular response to oxidative stress | 19p13.2 |
| LONP2 | protein targeting to peroxisome; peroxisome organization; misfolded or incompletely synthesized protein catabolic process; proteolysis; response to organic cyclic compound; regulation of fatty acid beta-oxidation; signal peptide processing | 16q12.1 |
| LONRF1 | proteolysis | 8p23.1 |
| LONRF2 | proteolysis | 2q11.2 |
| LONRF3 | proteolysis | Xq24 |
| LOR | peptide cross-linking; keratinocyte differentiation; keratinization | 1q21 |
| LOX | blood vessel development; protein modification process; collagen fibril organization; lung development; response to drug; elastic fiber assembly; response to steroid hormone stimulus; wound healing | 5q23.2 |
| LOXHD1 | sensory perception of sound | 18q21.1 |
| LOXL1 | protein deamination; oxidation-reduction process | 15q22 |
| LOXL1-AS1 | - | 15q24.1 |
| LOXL2 | protein modification process; cell adhesion; aging | 8p21.3 |
| LOXL3 | oxidation-reduction process | 2p13 |
| LOXL4 | - | 10q24 |
| LPA | lipoprotein metabolic process; proteolysis; lipid metabolic process; transport; lipid transport; receptor-mediated endocytosis; small molecule metabolic process; blood circulation; negative regulation of endopeptidase activity | 6q26 |
| LPAL2 | - | 6q26-q27 |
| LPAR1 | positive regulation of cell death; activation of MAPK activity; G-protein coupled receptor signaling pathway; activation of phospholipase C activity; elevation of cytosolic calcium ion concentration; negative regulation of neuron projection development; positive regulation of smooth muscle cell chemotaxis; cellular response to oxygen levels; positive regulation of dendritic spine development; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; positive regulation of MAPK cascade; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of apoptotic process; myelination; positive regulation of Rho protein signal transduction; bleb assembly; neurogenesis | 9q31.3 |
| LPAR2 | positive regulation of MAPK cascade; positive regulation of Rho protein signal transduction; elevation of cytosolic calcium ion concentration; activation of phospholipase C activity; G-protein coupled receptor signaling pathway; activation of MAPK activity | 19p12 |
| LPAR3 | activation of MAPK activity; G-protein signaling, coupled to cyclic nucleotide second messenger; elevation of cytosolic calcium ion concentration; synaptic transmission; bleb assembly; positive regulation of calcium ion transport; positive regulation of MAPK cascade; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger | 1p22.3 |
| LPAR4 | G-protein coupled receptor signaling pathway | Xq21.1 |
| LPAR5 | - | 12p13.31 |
| LPAR6 | G-protein coupled receptor signaling pathway | 13q14 |
| LPCAT1 | metabolic process; phospholipid biosynthetic process; retina development in camera-type eye | 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 | small molecule metabolic process; cellular lipid metabolic process; cellular response to insulin stimulus; triglyceride mobilization; organ regeneration; triglyceride biosynthetic process; regulation of transcription, DNA-dependent; fatty acid catabolic process | 2p25.1 |
| LPIN2 | lipid metabolic process; fatty acid metabolic process; regulation of transcription, DNA-dependent; dephosphorylation; positive regulation of transcription from RNA polymerase II promoter; small molecule metabolic process; cellular lipid metabolic process; triglyceride biosynthetic process | 18p11.31 |
| LPIN3 | dephosphorylation; fatty acid metabolic process; lipid metabolic process | 20q12 |
| LPL | positive regulation of macrophage derived foam cell differentiation; positive regulation of sequestering of triglyceride; positive regulation of cholesterol storage; very-low-density lipoprotein particle remodeling; lipid catabolic process; triglyceride biosynthetic process; triglyceride catabolic process; chylomicron remodeling; phospholipid metabolic process; triglyceride metabolic process; fatty acid biosynthetic process; lipid metabolic process; 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 | cell adhesion; protein complex assembly; 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; response to stimulus; small molecule metabolic process | 4q32.1 |
| LRBA | - | 4q31.3 |
| LRCH1 | - | 13q14.11 |
| LRCH2 | - | Xq23 |
| LRCH3 | - | 3q29 |
| LRCH4 | nervous system development; negative regulation of transcription, DNA-dependent | 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 targeting; vesicle fusion | 12p12.1 |
| LRP1 | negative regulation of Wnt receptor signaling pathway; regulation of actin cytoskeleton organization; regulation of phospholipase A2 activity; regulation of cholesterol transport; positive regulation of lipid transport; negative regulation of platelet-derived growth factor receptor-beta signaling pathway; aorta morphogenesis; lipoprotein metabolic process; lipoprotein transport; apoptotic cell clearance; positive regulation of anti-apoptosis; positive regulation of protein transport; negative regulation of smooth muscle cell migration; positive regulation of cholesterol efflux; cell proliferation; aging; multicellular organismal development; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; receptor-mediated endocytosis | 12q13.3 |
| LRP10 | lipid transport; endocytosis; lipid metabolic process | 14q11.2 |
| LRP11 | - | 6q25.1 |
| LRP12 | endocytosis; signal transduction; regulation of growth | 8q22.2 |
| LRP1B | protein transport; receptor-mediated endocytosis | 2q21.2 |
| LRP2 | lipid metabolic process; vitamin metabolic process; endocytosis; receptor-mediated endocytosis; steroid metabolic process; protein glycosylation; cell proliferation; forebrain development; vitamin D metabolic process; small molecule metabolic process | 2q31.1 |
| LRP2BP | - | 4q35.1 |
| LRP3 | receptor-mediated endocytosis | 19q13.11 |
| LRP4 | negative regulation of ossification; cell differentiation; proximal/distal pattern formation; synaptic growth at neuromuscular junction; dorsal/ventral pattern formation; odontogenesis of dentin-containing tooth; embryonic digit morphogenesis; receptor clustering; anatomical structure development; protein localization; multicellular organismal development; endocytosis; hair follicle development; kidney development; negative regulation of canonical Wnt receptor signaling pathway | 11p11.2 |
| LRP5 | embryonic limb morphogenesis; Wnt receptor signaling pathway; negative regulation of osteoblast differentiation; anterior/posterior pattern specification; cholesterol homeostasis; Wnt receptor signaling pathway involved in dorsal/ventral axis specification; positive regulation of fat cell differentiation; regulation of insulin secretion involved in cellular response to glucose stimulus; positive regulation of cell proliferation; regulation of blood pressure; multicellular organismal development; endocytosis; glucose catabolic process; osteoblast development; positive regulation of mesenchymal cell proliferation; gastrulation with mouth forming second; positive regulation of transcription, DNA-dependent; positive regulation of mitosis; regulation of canonical Wnt receptor signaling pathway; negative regulation of protein serine/threonine kinase activity; retinal blood vessel morphogenesis; adipose tissue development; branching involved in mammary gland duct morphogenesis; bone morphogenesis; embryonic retina m | 11q13.4 |
| LRP5L | canonical Wnt receptor signaling pathway; Wnt receptor signaling pathway involved in dorsal/ventral axis specification | 22q11.23 |
| LRP6 | negative regulation of protein serine/threonine kinase activity; dopaminergic neuron differentiation; cellular response to cholesterol; canonical Wnt receptor signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation; canonical Wnt receptor signaling pathway involved in cardiac neural crest cell differentiation involved in heart development; mammary placode formation; trachea cartilage morphogenesis; branching involved in mammary gland duct morphogenesis; bone morphogenesis; face morphogenesis; regulation of cell development; canonical Wnt receptor signaling pathway; embryonic retina morphogenesis in camera-type eye; primitive streak formation; receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport; Wnt receptor signaling pathway involved in somitogenesis; axis elongation involved in somitogenesis; positive regulation of canonical Wnt receptor signaling pathway; positive regulation of Wnt receptor signaling pathway involved in do | 12p13.2 |
| LRP8 | hippocampus development; signal transduction; endocytosis; positive regulation of protein kinase activity; lipid metabolic process; proteolysis; layer formation in cerebral cortex; cytokine-mediated signaling pathway; blood coagulation | 1p34 |
| LRPAP1 | negative regulation of very-low-density lipoprotein particle clearance; protein folding; negative regulation of signal transduction; vesicle-mediated transport; negative regulation of protein binding | 4p16.3 |
| LRPPRC | mitochondrion transport along microtubule; mRNA transport; transport; regulation of transcription, DNA-dependent | 2p21 |
| LRR1 | - | 14q21.3 |
| LRRC1 | - | 6p12.1 |
| LRRC10 | - | 12q15 |
| LRRC10B | - | 11q12.2 |
| LRRC14 | - | 8q24.3 |
| LRRC15 | - | 3q29 |
| LRRC16A | actin filament organization; ruffle organization; lamellipodium assembly; urate metabolic process; cell migration; blood coagulation | 6p22.2 |
| LRRC16B | - | 14q11.2 |
| LRRC17 | osteoblast differentiation; osteoblast proliferation; bone marrow development; negative regulation of osteoclast 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 | male gonad development; pachytene; diplotene | 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 | cell division; cell cycle; mitosis | 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 | positive regulation of cell death; protein autophosphorylation; negative regulation of neuron maturation; MAPK cascade; negative regulation of neuroblast proliferation; activation of MAPKK activity; activation of MAPK activity; small GTPase mediated signal transduction; positive regulation of autophagy; neuromuscular junction development; response to oxidative stress; positive regulation of protein phosphorylation; determination of adult lifespan; positive regulation of GTPase activity; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of branching morphogenesis of a nerve; neuron death; regulation of kidney size; positive regulation of protein ubiquitination; exploration behavior; tangential migration from the subventricular zone to the olfactory bulb; olfactory bulb development; peptidyl-serine phosphorylation; negative regulation of dendritic spine morphogenesis; positive regulation of dopamine receptor signaling pathway; intracellular distribution of mit | 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 | ubiquitin-dependent endocytosis; protein autoubiquitination; non-lytic virus budding; negative regulation of endocytosis; protein catabolic process; protein transport; protein polyubiquitination | 9q33.3 |
| LRTM2 | - | 12p13.33 |
| LRTOMT | sensory perception of sound; neurotransmitter catabolic process; auditory receptor cell development; catecholamine catabolic process | 11q13.4 |
| LRWD1 | DNA replication; G1 phase of mitotic cell cycle; establishment of protein localization to chromatin; chromatin modification; chromatin organization; DNA-dependent DNA replication initiation | 7q22.1 |
| LSAMP | cell adhesion; nervous system development | 3q13.2-q21 |
| LSG1 | protein transport; nuclear export | 3q29 |
| LSM1 | RNA splicing, via transesterification reactions; histone mRNA catabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA metabolic process; RNA metabolic process; gene expression; RNA splicing; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; mRNA processing | 8p11.2 |
| LSM10 | S phase of mitotic cell cycle; RNA splicing; gene expression; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; histone mRNA metabolic process | 1p34.3 |
| LSM11 | gene expression; histone mRNA metabolic process; histone mRNA 3'-end processing; mRNA processing; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; S phase of mitotic cell cycle | 5q33.3 |
| LSM12 | - | 17q21.31 |
| LSM12P1 | - | 8p12 |
| LSM14A | cytoplasmic mRNA processing body assembly; multicellular organismal development; regulation of translation | 19q13.11 |
| LSM14B | multicellular organismal development; regulation of translation | 20q13.33 |
| LSM2 | nuclear mRNA splicing, via spliceosome; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; RNA metabolic process; gene expression; RNA splicing; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 6p21.3 |
| LSM3 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; gene expression; RNA splicing; RNA metabolic process; mRNA metabolic process; mRNA processing; nuclear mRNA splicing, via spliceosome; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 3p25.1 |
| LSM3P4 | - | 4q31.21 |
| LSM3P5 | - | 16q |
| LSM4 | mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; RNA splicing; mRNA processing; RNA metabolic process; gene expression; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 19p13.11 |
| LSM5 | RNA splicing; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; mRNA processing; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA metabolic process; RNA metabolic process; gene expression | 7p14.3 |
| LSM6 | RNA splicing; mRNA metabolic process; RNA metabolic process; tRNA processing; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA processing; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; rRNA processing | 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 | steroid biosynthetic process; cholesterol biosynthetic process; steroid metabolic process; sterol metabolic process; small molecule metabolic process | 21q22.3 |
| LST1 | cell morphogenesis; immune response; regulation of cell shape; anatomical structure morphogenesis; dendrite development; negative regulation of lymphocyte proliferation | 6p21.3 |
| LTA | response to hypoxia; defense response to Gram-positive bacterium; lymph node development; negative regulation of fibroblast proliferation; negative regulation of growth of symbiont in host; response to drug; positive regulation of interferon-gamma production; response to lipopolysaccharide; response to nutrient; cell-cell signaling; signal transduction; humoral immune response; immune response; induction of apoptosis; positive regulation of humoral immune response mediated by circulating immunoglobulin; positive regulation of chronic inflammatory response to antigenic stimulus | 6p21.3 |
| LTA4H | proteolysis; prostanoid metabolic process; leukotriene biosynthetic process; inflammatory response; response to zinc ion; Type I pneumocyte differentiation; small molecule metabolic process; response to peptide hormone stimulus; peptide catabolic process | 12q22 |
| LTB | lymph node development; positive regulation of interleukin-12 biosynthetic process; skin development; gene expression; cell-cell signaling; signal transduction; immune response | 6p21.3 |
| LTB4R | immune response; cellular component movement; muscle contraction; inflammatory 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 | keratinocyte migration; negative regulation of adenylate cyclase activity; G-protein coupled receptor signaling pathway; signal transduction; chemotaxis | 14q11.2-q12 |
| LTBP1 | negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta | 2p22-p21 |
| LTBP2 | protein targeting; transforming growth factor beta receptor signaling pathway; protein secretion | 14q24 |
| LTBP3 | positive regulation of bone resorption; negative regulation of chondrocyte differentiation; skeletal system development; transforming growth factor beta receptor signaling pathway; negative regulation of bone mineralization; bone remodeling; bone morphogenesis; lung saccule development | 11q13.1 |
| LTBP4 | regulation of proteolysis; protein folding; regulation of cell growth; multicellular organismal development; hormone secretion; regulation of transforming growth factor beta receptor signaling pathway; regulation of cell differentiation; growth hormone secretion | 19q13.1-q13.2 |
| LTBR | apoptotic process; signal transduction; positive regulation of extrinsic apoptotic signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; interspecies interaction between organisms; positive regulation of JNK cascade; cellular response to mechanical stimulus | 12p13 |
| LTC4S | cellular response to vitamin A; cellular response to lipopolysaccharide; response to axon injury; small molecule metabolic process; response to drug; leukotriene production involved in inflammatory response; leukotriene metabolic process; prostanoid metabolic process; response to inorganic substance; leukotriene biosynthetic process | 5q35 |
| LTF | ion transport; proteolysis; defense response to bacterium; metabolic process; humoral immune response; cellular iron ion homeostasis; iron ion transport | 3p21.31 |
| LTK | positive regulation of neuron projection development; protein phosphorylation; apoptotic process; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; cell proliferation; phosphatidylinositol 3-kinase cascade; cellular response to retinoic acid | 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 | mRNA processing; apoptotic process; response to stress; RNA splicing | 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 | response to stilbenoid; lymphocyte differentiation; cell adhesion | 8q24 |
| LY6E | organ growth; in utero embryonic development; cell surface receptor signaling pathway; adrenal gland development; norepinephrine metabolic process; epinephrine secretion; ventricular cardiac muscle tissue morphogenesis | 8q24.3 |
| LY6G5B | - | 6p21.3 |
| LY6G5C | - | 6p21.33 |
| LY6G6E | - | 6p21.3 |
| LY6G6F | - | 6p21 |
| LY6H | organ morphogenesis; nervous system development | 8q24.3 |
| LY6K | - | 8q24.3 |
| LY75 | immune response; inflammatory response; endocytosis | 2q24 |
| LY86 | cell proliferation; inflammatory response; humoral immune response; innate immune response; apoptotic process | 6p25.1 |
| LY86-AS1 | - | 6p25.1 |
| LY9 | immunoglobulin mediated immune response; cell adhesion | 1q23.3 |
| LY96 | detection of lipopolysaccharide; toll-like receptor 4 signaling pathway; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; MyD88-independent toll-like receptor signaling pathway; inflammatory response; cellular defense response; cell surface receptor signaling pathway; innate immune response; response to lipopolysaccharide; lipopolysaccharide-mediated signaling pathway; I-kappaB kinase/NF-kappaB cascade; Toll signaling pathway | 8q21.11 |
| LYAR | - | 4p16.3 |
| LYG1 | cell wall macromolecule catabolic process; metabolic process; peptidoglycan catabolic process | 2q11.2 |
| LYG2 | peptidoglycan catabolic process; metabolic process; cell wall macromolecule catabolic process | 2q11.2 |
| LYL1 | positive regulation of transcription, DNA-dependent; definitive hemopoiesis; blood vessel maturation; regulation of transcription, DNA-dependent; B cell differentiation | 19p13.2 |
| LYN | negative regulation of MAP kinase activity; interspecies interaction between organisms; innate immune response; regulation of erythrocyte differentiation; protein autophosphorylation; response to axon injury; cytokine secretion; negative regulation of immune response; regulation of B cell receptor signaling pathway; leukocyte migration; positive regulation of cellular component movement; regulation of release of sequestered calcium ion into cytosol; positive regulation of glial cell proliferation; positive regulation of Fc receptor mediated stimulatory signaling pathway; JAK-STAT cascade involved in growth hormone signaling pathway; positive regulation of stress-activated protein kinase signaling cascade; regulation of ERK1 and ERK2 cascade; negative regulation of ERK1 and ERK2 cascade; positive regulation of oligodendrocyte progenitor proliferation; negative regulation of mast cell proliferation; positive regulation of mast cell proliferation; cellular response to retinoic acid; regulation of monocyte chemot | 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; nitric oxide metabolic process; small molecule metabolic process; fatty acid 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 | mast cell secretory granule organization; defense response to virus; pigmentation; defense response to bacterium; natural killer cell mediated cytotoxicity; endosome to lysosome transport via multivesicular body sorting pathway; melanosome organization; leukocyte chemotaxis; protein transport; defense response to protozoan | 1q42.1-q42.2 |
| LYST-AS1 | - | - |
| LYVE1 | cell adhesion; cellular component movement; transport; glycosaminoglycan catabolic process; 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 | transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription; cell cycle; gene expression; regulation of dendrite morphogenesis; transcription from RNA polymerase III promoter; regulation of transcription, DNA-dependent; transcription, DNA-dependent | 8p22 |
| LZTS1-AS1 | - | - |
| LZTS2 | Wnt receptor signaling pathway; cell division; cell cycle; mitosis; positive regulation of cell death | 10q24 |
| LZTS3 | - | 20p13 |
| M1AP | - | 2p13.1 |
| M6PR | endosome to lysosome transport; receptor-mediated endocytosis; transport | 12p13 |
| MAATS1 | - | 3q12-q13.3 |
| MAB21L2 | nervous system development; camera-type eye development; embryonic body morphogenesis; positive regulation of cell proliferation; multicellular organismal development | 4q31 |
| MAB21L3 | - | 1p13.1 |
| MACC1 | positive regulation of cell division; regulation of transcription, DNA-dependent | 7p21.1 |
| MACC1-AS1 | - | - |
| MACF1 | establishment or maintenance of cell polarity; regulation of epithelial cell migration; positive regulation of Wnt receptor signaling pathway; cell cycle arrest; regulation of focal adhesion assembly; cellular component movement; Golgi to plasma membrane protein transport; regulation of microtubule-based process; posttranslational protein targeting to membrane; wound healing; mesoderm formation; ATP catabolic process | 1p32-p31 |
| MACROD1 | purine nucleoside metabolic process | 11q11 |
| MACROD2 | purine nucleoside metabolic process | 20p12.1 |
| MACROD2-AS1 | - | 20p12.1 |
| MACROD2-IT1 | - | - |
| MAD1L1 | mitotic telophase; mitotic cell cycle checkpoint; mitotic cell cycle spindle assembly checkpoint; cell division; mitotic cell cycle; mitotic prometaphase; cell cycle checkpoint; M phase of mitotic cell cycle; mitotic anaphase; mitotic metaphase | 7p22 |
| MAD2L1 | negative regulation of apoptotic process; cell cycle checkpoint; mitotic sister chromatid segregation; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; mitotic cell cycle checkpoint; mitotic cell cycle spindle assembly checkpoint; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; negative regulation of protein catabolic process; 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; negative regulation of mitotic anaphase-promoting complex activity; positive regulation of mitotic cell cycle spindle assembly checkpoint | 4q27 |
| MAD2L1BP | regulation of exit from mitosis; mitotic cell cycle checkpoint | 6p21.1 |
| MAD2L2 | regulation of cell growth; negative regulation of mitotic anaphase-promoting complex activity; cell division; positive regulation of peptidyl-serine phosphorylation; mitotic cell cycle spindle assembly checkpoint; mitosis; negative regulation of protein catabolic process; cell cycle; double-strand break repair; DNA repair; DNA damage response, signal transduction resulting in transcription; positive regulation of transcription, DNA-dependent | 1p36 |
| MADD | cell surface receptor signaling pathway; regulation of apoptotic process; activation of MAPK activity; positive regulation of protein phosphorylation; regulation of cell cycle | 11p11.2 |
| MAEA | cell division; cytoskeleton organization; cell cycle; cell adhesion; regulation of mitotic cell cycle; negative regulation of myeloid cell apoptosis; erythrocyte maturation; enucleate erythrocyte development | 4p16.3 |
| MAEL | DNA methylation involved in gamete generation; negative regulation of gene expression; fertilization; spermatogenesis; multicellular organismal development; gene silencing by RNA; male meiosis; piRNA metabolic process; synapsis; meiotic prophase I; response to DNA damage stimulus; cell morphogenesis; negative regulation of transcription from RNA polymerase II promoter; cell differentiation; regulation of organ growth; negative regulation of apoptotic process | 1q24.1 |
| MAF | transcription from RNA polymerase II promoter | 16q22-q23 |
| MAF1 | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase III promoter | 8q24.3 |
| MAFB | rhombomere 6 development; brain segmentation; inner ear morphogenesis; negative regulation of erythrocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; sensory organ development; segment specification; rhombomere 5 development; respiratory gaseous exchange | 20q11.2-q13.1 |
| MAFF | blood coagulation; regulation of epidermal cell differentiation; parturition; response to stress; in utero embryonic development; transcription from RNA polymerase II promoter | 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 | blood coagulation; regulation of transcription, DNA-dependent | 7p22.3 |
| MAG | cell adhesion; blood coagulation; nerve growth factor receptor signaling pathway; regulation of axonogenesis; negative regulation of axonogenesis; leukocyte migration | 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 | negative regulation of epithelial cell proliferation; nerve growth factor receptor signaling pathway; regulation of apoptotic process; induction of apoptosis by extracellular signals; apoptotic process; regulation of transcription, DNA-dependent | Xp11.23 |
| MAGED2 | - | Xp11.2 |
| MAGED4 | - | Xp11.22 |
| MAGEE1 | - | Xq13.3 |
| MAGEF1 | - | 3q13 |
| MAGEH1 | apoptotic process | Xp11.21 |
| MAGEL2 | - | 15q11-q12 |
| MAGI1 | cell surface receptor signaling pathway; cell adhesion; protein complex assembly | 3p14.1 |
| MAGI1-AS1 | - | - |
| MAGI1-IT1 | - | 3p14.3 |
| MAGI2 | SMAD protein signal transduction; mitotic cell cycle arrest; negative regulation of protein kinase B signaling cascade; negative regulation of activin receptor signaling pathway; protein heterooligomerization; negative regulation of cell proliferation; positive regulation of phosphoprotein phosphatase activity; receptor clustering; negative regulation of cell migration; glomerular visceral epithelial cell development; planar cell polarity pathway involved in axis elongation; positive regulation of receptor internalization | 7q21 |
| MAGI2-AS1 | - | - |
| MAGI2-AS3 | - | - |
| MAGI2-IT1 | - | 7q21.11 |
| MAGI3 | interspecies interaction between organisms; apoptotic process; intracellular signal transduction | 1p12-p11.2 |
| MAGIX | - | Xp11.23 |
| MAGOH | regulation of translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA export from nucleus; transport; RNA splicing; gene expression; RNA metabolic process; mRNA metabolic process; mRNA 3'-end processing | 1p32.3 |
| MAGOH2P | - | - |
| MAGOH3P | - | 14q24.1 |
| MAGOHB | mRNA processing; transport; RNA splicing; mRNA transport | 12p13.2 |
| MAGT1 | protein N-linked glycosylation; transport; magnesium ion transport; cognition | Xq21.1 |
| MAK | protein phosphorylation; protein autophosphorylation; photoreceptor cell maintenance; cell differentiation; spermatogenesis; multicellular organismal development | 6p24 |
| MAK16 | translation | 8p12 |
| MAL | apical protein localization; membrane raft polarization; induction of apoptosis; central nervous system development; cell differentiation; myelination | 2q11.1 |
| MAL2 | - | 8q23 |
| MALAT1 | - | 11q13.1 |
| MALL | cholesterol homeostasis | 2q13 |
| MALSU1 | ribosomal large subunit biogenesis | 7p15.3 |
| MALT1 | positive regulation of phosphorylation; positive regulation of protein ubiquitination; protein oligomerization; nuclear export; positive regulation of NF-kappaB transcription factor activity; positive regulation of T cell activation; T cell receptor signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; positive regulation of interleukin-2 production; protein ubiquitination; activation of NF-kappaB-inducing kinase activity; defense response; anti-apoptosis; proteolysis; positive regulation of T cell cytokine production | 18q21 |
| MAMDC2 | - | 9q21.12 |
| MAMDC2-AS1 | - | - |
| MAMDC4 | protein transport | 9q34.3 |
| MAML1 | regulation of transcription, DNA-dependent; positive regulation of muscle cell differentiation; positive regulation of transcription from RNA polymerase II promoter; myoblast differentiation; positive regulation of myotube differentiation; gene expression; Notch signaling pathway; protein phosphorylation | 5q35 |
| MAML2 | positive regulation of transcription from RNA polymerase II promoter; gene expression; Notch signaling pathway; regulation of transcription, DNA-dependent | 11q21 |
| MAML3 | gene expression; positive regulation of transcription from RNA polymerase II promoter; Notch signaling pathway; regulation of transcription, DNA-dependent | 4q28 |
| MAMLD1 | male gonad development; regulation of transcription, DNA-dependent | Xq28 |
| MAMSTR | positive regulation of myotube differentiation; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 19q13.33 |
| MAN1A1 | metabolic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 6q22 |
| MAN1A2 | N-glycan processing; respiratory gaseous exchange; metabolic process; glycoprotein metabolic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process; lung alveolus development | 1p13 |
| MAN1B1 | cellular protein metabolic process; protein N-linked glycosylation via asparagine; oligosaccharide metabolic process; post-translational protein modification; ER-associated protein catabolic process; metabolic process; protein folding; protein N-linked glycosylation | 9q34 |
| MAN1B1-AS1 | - | 9q34.3 |
| MAN1C1 | protein N-linked glycosylation; metabolic process; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine | 1p35 |
| MAN2A1 | protein N-linked glycosylation via asparagine; in utero embryonic development; liver development; carbohydrate metabolic process; mannose metabolic process; N-glycan processing; mitochondrion organization; vacuole organization; respiratory gaseous exchange; post-translational protein modification; cellular protein metabolic process; lung alveolus development | 5q21-q22 |
| MAN2A2 | protein N-linked glycosylation via asparagine; mannose metabolic process; carbohydrate metabolic process; post-translational protein modification; cellular protein metabolic process | 15q26.1 |
| MAN2B1 | mannose metabolic process; learning or memory; protein deglycosylation; protein modification process; carbohydrate metabolic process | 19cen-q13.1 |
| MAN2B2 | mannose metabolic process; carbohydrate metabolic process | 4p16.1 |
| MAN2C1 | carbohydrate metabolic process; mannose metabolic process | 15q11-q13 |
| MANBA | protein modification process; carbohydrate metabolic process | 4q22-q25 |
| MANBAL | - | 20q11.23-q12 |
| MANEA | post-translational protein modification; cellular protein metabolic process; protein N-linked glycosylation via asparagine | 6q16.1 |
| MANEAL | - | 1p34.3 |
| MANF | response to unfolded protein | 3p21.1 |
| MANSC1 | - | 12p13.2 |
| MAOA | serotonin metabolic process; cellular biogenic amine metabolic process; catecholamine metabolic process; xenobiotic metabolic process; synaptic transmission; neurotransmitter secretion; behavior; neurotransmitter catabolic process; neurotransmitter biosynthetic process; dopamine catabolic process; phenylethylamine metabolic process; small molecule metabolic process | Xp11.3 |
| MAOB | response to steroid hormone stimulus; xenobiotic metabolic process; response to toxin; response to aluminum ion; response to selenium ion; negative regulation of serotonin secretion; response to lipopolysaccharide; response to drug; small molecule metabolic process; response to ethanol; positive regulation of dopamine metabolic process; response to corticosterone stimulus | Xp11.23 |
| MAP10 | - | 1q42.2 |
| MAP1A | - | 15q15.3 |
| MAP1B | positive regulation of microtubule polymerization; establishment of monopolar cell polarity; induction of synaptic plasticity by chemical substance; response to axon injury; developmental maturation; response to mechanical stimulus; response to carbohydrate stimulus; embryo development; cellular process; response to inorganic substance; peripheral nervous system axon regeneration; dendrite development; response to insecticide; central nervous system development; response to nutrient levels; response to estradiol stimulus; negative regulation of intracellular transport; positive regulation of axon extension; positive regulation of neuron differentiation; response to vitamin A; response to peptide hormone stimulus; response to drug; synapse assembly; neuron development; mitochondrion transport along microtubule; axon extension involved in development; microtubule bundle formation; negative regulation of microtubule depolymerization; axonogenesis | 5q13 |
| MAP1LC3A | autophagic vacuole assembly; autophagy | 20q11.22 |
| MAP1LC3B | autophagy | 16q24.2 |
| MAP1LC3B2 | autophagy | 12q24.22 |
| MAP1LC3C | autophagy | 1q43 |
| MAP1S | mitochondrion transport along microtubule; apoptotic process; neuron projection morphogenesis; nervous system development; brain development; microtubule bundle formation | 19p13.11 |
| MAP2 | dendrite morphogenesis; neuron projection development; central nervous system neuron development; peptidyl-threonine phosphorylation; axonogenesis; negative regulation of microtubule depolymerization; microtubule bundle formation | 2q34-q35 |
| MAP2K1 | toll-like receptor 4 signaling pathway; nerve growth factor receptor signaling pathway; vesicle transport along microtubule; response to axon injury; positive regulation of Ras protein signal transduction; positive regulation of cell differentiation; innate immune response; TRIF-dependent toll-like receptor signaling pathway; signal transduction; neuron projection morphogenesis; cell motility; response to glucocorticoid stimulus; stress-activated MAPK cascade; placenta blood vessel development; labyrinthine layer development; regulation of Golgi inheritance; cellular senescence; axon guidance; Ras protein signal transduction; small GTPase mediated signal transduction; regulation of early endosome to late endosome transport; MAPK cascade; epidermal growth factor receptor signaling pathway; regulation of stress-activated MAPK cascade; neuron differentiation; melanosome transport; positive regulation of Ras GTPase activity; mitosis; positive regulation of cell migration; keratinocyte differentiation; cell cycle | 15q22.1-q22.33 |
| MAP2K1P1 | - | 8p12 |
| MAP2K2 | MyD88-independent toll-like receptor signaling pathway; axon guidance; Ras protein signal transduction; small GTPase mediated signal transduction; epidermal growth factor receptor signaling pathway; protein phosphorylation; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; activation of MAPK activity; activation of MAPKK activity; MAPK cascade; Toll signaling pathway; toll-like receptor 3 signaling pathway; stress-activated MAPK cascade; ERK1 and ERK2 cascade; regulation of Golgi inheritance; positive regulation of cell motility; regulation of early endosome to late endosome transport; nerve growth factor receptor signaling pathway; innate immune response; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 2 signaling pathway; fibroblast growth factor receptor signaling pathway; regulation of stress-activated MAPK cascade; insulin receptor signaling pathway; toll-like receptor 1 signaling pathway | 19p13.3 |
| MAP2K3 | innate immune response; positive regulation of transcription, DNA-dependent; positive regulation of protein kinase activity; stress-activated MAPK cascade; cardiac muscle contraction; toll-like receptor signaling pathway; regulation of cytokine biosynthetic 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; Toll signaling pathway; signal transduction; inflammatory response; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; activation of MAPK activity | 17q11.2 |
| MAP2K4 | MyD88-dependent toll-like receptor signaling pathway; cellular response to mechanical stimulus; stress-activated MAPK cascade; innate immune response; toll-like receptor signaling pathway; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 2 signaling pathway; MyD88-independent toll-like receptor signaling pathway; protein phosphorylation; apoptotic process; response to stress; signal transduction; JNK cascade; Toll signaling pathway; toll-like receptor 1 signaling pathway | 17p12 |
| MAP2K5 | negative regulation of response to cytokine stimulus; 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; 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 cell growth; heart development; signal transduction; protein phosphorylation; activation of MAPK activity; negative regulation of transcription from RNA polymerase II promoter; ERK5 cascade; cellular response to growth factor stimulus; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; negative regulation of interleukin-8 biosynthetic process; positive regulation of protein metabolic process; positive regulation of epithelial cell pr | 15q23 |
| MAP2K6 | positive regulation of apoptotic process; response to stress; innate immune response; positive regulation of muscle cell differentiation; stress-activated MAPK cascade; cardiac muscle contraction; nucleotide-binding oligomerization domain containing 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; regulation of transcription, DNA-dependent; toll-like receptor 2 signaling pathway; 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 1 signaling pathway; Toll signaling pathway; muscle cell differentiation; signal transduction; cell cycle arrest; DNA damage induced protein phosphorylation | 17q24.3 |
| MAP2K7 | MyD88-dependent toll-like receptor signaling pathway; apoptotic process; MyD88-independent toll-like receptor signaling pathway; toll-like receptor signaling pathway; activation of MAPK activity; response to stress; stress-activated MAPK cascade; 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 neuron apoptosis; innate immune response; toll-like receptor 1 signaling pathway; Toll signaling pathway; activation of JUN kinase activity; JNK cascade; signal transduction | 19p13.3-p13.2 |
| MAP3K1 | toll-like receptor signaling pathway; protein polyubiquitination; activation of MAPKK activity; MAPK cascade; toll-like receptor 1 signaling pathway; MyD88-dependent toll-like receptor signaling pathway; protein phosphorylation; response to osmotic stress; transforming growth factor beta receptor signaling pathway; Toll signaling pathway; apoptotic mitochondrial changes; peptidyl-serine phosphorylation; regulation of cell migration; positive regulation of actin filament polymerization; negative regulation of actin filament bundle assembly; cellular response to mechanical stimulus; toll-like receptor 2 signaling pathway; toll-like receptor 4 signaling pathway; wound healing; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; camera-type eye development; positive regulation of apoptotic process; innate immune response; protein autophosphorylation; positive regulation of viral transcription; protein oligomerization | 5q11.2 |
| MAP3K10 | protein autophosphorylation; protein phosphorylation; induction of apoptosis; signal transduction; smoothened signaling pathway; JNK cascade; activation of JNKK activity; activation of JUN kinase activity; peptidyl-serine phosphorylation; peptidyl-threonine phosphorylation; negative regulation of sequence-specific DNA binding transcription factor activity; positive regulation of JUN kinase activity; negative regulation of transcription, DNA-dependent; positive regulation of JNK cascade | 19q13.2 |
| MAP3K11 | positive regulation of JNK cascade; positive regulation of neuron apoptosis; microtubule-based process; protein autophosphorylation; protein phosphorylation; activation of MAPK activity; positive regulation of JUN kinase activity; cell proliferation; cell death; activation of JUN kinase activity; activation of JNKK activity; JNK cascade; G1 phase of mitotic cell cycle | 11q13.1-q13.3 |
| MAP3K12 | protein autophosphorylation; protein phosphorylation; intracellular protein kinase cascade; JNK cascade; histone phosphorylation; peptidyl-serine phosphorylation; peptidyl-threonine phosphorylation | 12q13 |
| MAP3K13 | positive regulation of NF-kappaB transcription factor activity; protein autophosphorylation; JNK cascade; protein phosphorylation; activation of MAPKK activity | 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 | positive regulation of transcription, DNA-dependent; activation of MAPK activity; protein phosphorylation; activation of JUN kinase activity; cellular response to mechanical stimulus | 2q14.3 |
| MAP3K3 | protein autophosphorylation; positive regulation of I-kappaB kinase/NF-kappaB cascade; intracellular protein kinase cascade; activation of MAPKK activity; MAPK cascade | 17q23.3 |
| MAP3K4 | protein phosphorylation; activation of MAPKK activity; response to stress; intracellular protein kinase cascade; JNK cascade; male germ-line sex determination; positive regulation of JUN kinase activity | 6q26 |
| MAP3K5 | response to stress; JNK cascade; activation of JUN kinase activity; induction of apoptosis by extracellular signals; MAPK cascade; activation of MAPKK activity; activation of cysteine-type endopeptidase activity involved in 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; positive regulation of apoptotic process; hydrogen peroxide-mediated programmed cell death; induction of apoptosis by oxidative stress | 6q22.33 |
| MAP3K6 | MAPK cascade; activation of MAPKK activity; protein phosphorylation; signal transduction; activation of JUN kinase activity | 1p36.11 |
| MAP3K7 | negative regulation of apoptotic process; Toll signaling pathway; innate immune response; positive regulation of JNK cascade; T cell receptor signaling pathway; response to stress; signal transduction; transforming growth factor beta receptor signaling pathway; I-kappaB kinase/NF-kappaB cascade; activation of NF-kappaB-inducing kinase activity; I-kappaB phosphorylation; JNK cascade; histone H3 acetylation; 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 oligomerization domain containing signaling pathway; stress-activated MAPK cascade; positive regulation of NF-kappaB transcription factor activity; positive regulation of T cell activation; regulation of transcription, DNA-dependent; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; positive regu | 6q15 |
| MAP3K7CL | - | 21q22.3 |
| MAP3K8 | signal transduction; protein phosphorylation; cell cycle; T cell costimulation | 10p11.23 |
| MAP3K9 | protein autophosphorylation; activation of JUN kinase activity; activation of JNKK activity; response to stress; apoptotic process; protein phosphorylation; regulation of transcription, DNA-dependent; activation of MAPK activity; MAPK cascade | 14q24.2 |
| MAP4 | negative regulation of microtubule depolymerization | 3p21 |
| MAP4K1 | activation of MAPKKK activity; protein phosphorylation; response to stress; intracellular protein kinase cascade; activation of JUN kinase activity; peptidyl-serine phosphorylation; MAPK cascade | 19q13.1-q13.4 |
| MAP4K2 | activation of JUN kinase activity; innate immune response; positive regulation of JNK cascade; JNK cascade; intracellular protein kinase cascade; immune response; response to stress; vesicle targeting; protein phosphorylation | 11q13 |
| MAP4K3 | intracellular protein kinase cascade; protein phosphorylation; response to stress; JNK cascade | 2p22.1 |
| MAP4K4 | protein phosphorylation; response to stress; intracellular protein kinase cascade; regulation of JNK cascade | 2q11.2-q12 |
| MAP4K5 | intracellular protein kinase cascade; response to stress; protein phosphorylation; activation of JUN kinase activity | 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 division; cell cycle; mitosis | 4q32.1 |
| MAPK1 | MAPK cascade; TRIF-dependent toll-like receptor signaling pathway; nerve growth factor receptor signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of translation; negative regulation of cell differentiation; innate immune response; interspecies interaction between organisms; response to estrogen stimulus; response to exogenous dsRNA; T cell 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; mammary gland epithelial cell proliferation; regulation of stress-activated MAPK cascade; response to lipopolysaccharide; lipopolysaccharide-mediated signaling pathway; JAK-STAT cascade involved in growth hormone signaling pathway; activation of MAPKK activity; activation of MAPK activity; MAPK import into nucleus; regulation of early endosome to late endosome transport; regulation of Golgi inheritance; caveolin-mediated endocytosis; ERK1 and ERK2 | 22q11.21 |
| MAPK10 | TRIF-dependent toll-like receptor 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 2 signaling pathway; toll-like receptor 3 signaling pathway; stress-activated MAPK cascade; regulation of sequence-specific DNA binding transcription factor activity; innate immune response; toll-like receptor 4 signaling pathway | 4q22.1-q23 |
| MAPK11 | MAPK cascade; activation of MAPK activity; stress-activated MAPK cascade; positive regulation of muscle cell differentiation; regulation of sequence-specific DNA binding transcription factor activity; nerve growth factor receptor signaling pathway; innate immune response; muscle cell differentiation; 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; mRNA metabolic process; RNA metabolic process; gene expression; Ras protein signal transduction; intracellular protein kinase cascade; signal transduction; response to stress; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; Toll signaling pathway | 22q13.33 |
| MAPK12 | nerve growth factor receptor signaling pathway; Ras protein signal transduction; myoblast differentiation; muscle cell differentiation; peptidyl-serine phosphorylation; muscle organ development; MAPK cascade; regulation of transcription, DNA-dependent; response to stress; DNA damage induced protein phosphorylation; cell cycle arrest; signal transduction; positive regulation of muscle cell differentiation | 22q13.33 |
| MAPK13 | cell cycle; response to osmotic stress; response to stress; regulation of transcription, DNA-dependent; MAPK cascade; intracellular protein kinase cascade; Ras protein signal transduction; peptidyl-serine phosphorylation; positive regulation of interleukin-6 production; nerve growth factor receptor signaling pathway; positive regulation of inflammatory response | 6p21.31 |
| MAPK14 | positive regulation of muscle cell differentiation; positive regulation of reactive oxygen species metabolic process; signal transduction; platelet activation; peptidyl-serine phosphorylation; mRNA metabolic process; RNA metabolic process; gene expression; Toll signaling pathway; blood coagulation; Ras protein signal transduction; intracellular protein kinase cascade; cell surface receptor signaling pathway; cellular response to ionizing radiation; response to stress; chemotaxis; cellular component movement; apoptotic process; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; activation of MAPK activity; MAPK cascade; toll-like receptor 1 signaling pathway; stress-induced premature senescence; cellular response to growth factor stimulus; 3'-UTR-mediated mRNA stabilization; stress-activated MAPK cascade; regulation of sequence-specific DNA binding transcription factor activity; nerve growth factor receptor signali | 6p21.3-p21.2 |
| MAPK15 | MAPK cascade; protein autophosphorylation; positive regulation of protein catabolic process; response to estradiol stimulus; positive regulation of protein ubiquitination; negative regulation of DNA replication; positive regulation of protein phosphorylation | - |
| MAPK1IP1L | - | 14q22.3 |
| MAPK3 | JAK-STAT cascade involved in growth hormone signaling pathway; interleukin-1-mediated signaling pathway; cellular response to mechanical stimulus; caveolin-mediated endocytosis; regulation of Golgi inheritance; regulation of early endosome to late endosome transport; negative regulation of apolipoprotein binding; nerve growth factor receptor signaling pathway; toll-like receptor 2 signaling pathway; fibroblast growth factor receptor signaling pathway; response to toxin; organ morphogenesis; gene expression; cytokine-mediated signaling pathway; sensory perception of pain; arachidonic acid metabolic process; platelet activation; lipopolysaccharide-mediated signaling pathway; response to lipopolysaccharide; regulation of stress-activated MAPK cascade; positive regulation of histone phosphorylation; toll-like receptor 1 signaling pathway; activation of MAPKK activity; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; positive regulation of histone acetylation; TRIF-dependent toll-lik | 16p11.2 |
| MAPK4 | MAPK cascade; protein phosphorylation; cell cycle | 18q21.1 |
| MAPK6 | signal transduction; MAPK cascade; protein phosphorylation; cell cycle | 15q21 |
| MAPK6PS2 | - | 21q21.1 |
| MAPK6PS3 | - | 13q14.13 |
| MAPK6PS4 | - | 8q11.1 |
| MAPK6PS6 | - | 10q11.23 |
| MAPK7 | ERK5 cascade; toll-like receptor 3 signaling pathway; cell cycle; signal transduction; Toll signaling pathway; peptidyl-serine phosphorylation; cell differentiation; negative regulation of heterotypic cell-cell adhesion; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; MyD88-independent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; negative regulation of apoptotic process; innate immune response; regulation of angiogenesis; positive regulation of transcription from RNA polymerase II promoter; protein autophosphorylation; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; nerve growth factor receptor signaling pathway; negative regulation of inflammatory response; cellular response to transforming growth factor beta stimulus; cellular response to laminar fluid shear stress; positive regulation of protein metabolic process; stress-activated MAPK cascade; ne | 17p11.2 |
| MAPK8 | JUN phosphorylation; induction of apoptosis by intracellular signals; induction of apoptosis by extracellular signals; Toll signaling pathway; regulation of histone deacetylation; activation of pro-apoptotic gene products; response to UV; positive regulation of gene expression; peptidyl-serine phosphorylation; peptidyl-threonine phosphorylation; nerve growth factor receptor signaling pathway; JNK cascade; response to stress; apoptotic process; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; ossification; positive regulation of determination of dorsal identity; positive regulation of deacetylase activity; cellular response to mechanical stimulus; stress-activated MAPK cascade; regulation of sequence-specific DNA binding transcription factor activity; response to cadmium ion; innate immune response; negative regulation of apoptotic process; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 | 10q11.22 |
| MAPK8IP1 | regulation of JNK cascade; negative regulation of JNK cascade; regulation of transcription, DNA-dependent; negative regulation of JUN kinase activity; vesicle-mediated transport; anti-apoptosis; JUN phosphorylation; signal transduction | 11p11.2 |
| MAPK8IP2 | behavioral fear response; social behavior; MAPK cascade; positive regulation of protein phosphorylation; regulation of JNK cascade; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; signal complex assembly; mating behavior; regulation of receptor activity; positive regulation of stress-activated MAPK cascade; positive regulation of anti-apoptosis; regulation of synaptic transmission, glutamatergic; dendrite morphogenesis; regulation of N-methyl-D-aspartate selective glutamate receptor activity; nonassociative learning; regulation of excitatory postsynaptic membrane potential | 22q13.33 |
| MAPK8IP3 | post-embryonic development; lung morphogenesis; regulation of gene expression; in utero embryonic development; forebrain development; regulation of JNK cascade; vesicle-mediated transport; lung alveolus development; activation of JUN kinase activity; axon guidance; protein localization; respiratory gaseous exchange | 16p13.3 |
| MAPK8IPP | - | 17q21.31 |
| MAPK9 | response to cadmium ion; stress-activated MAPK cascade; regulation of sequence-specific DNA binding transcription factor activity; response to stress; 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; induction of apoptosis in response to chemical stimulus; positive regulation of macrophage derived foam cell differentiation; positive regulation of gene expression; Toll signaling pathway; JUN phosphorylation; JNK cascade; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway | 5q35 |
| MAPKAP1 | nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; response to stress; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; T cell costimulation | 9q33.3 |
| MAPKAPK2 | peptidyl-serine phosphorylation; MAPK cascade; leukotriene biosynthetic process; regulation of interleukin-6 production; TRIF-dependent toll-like receptor signaling pathway; mRNA metabolic process; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; prostanoid metabolic process; toll-like receptor 1 signaling pathway; regulation of tumor necrosis factor production; activation of MAPK activity; G2/M transition DNA damage checkpoint; response to lipopolysaccharide; gene expression; 3'-UTR-mediated mRNA stabilization; protein phosphorylation; response to stress; inflammatory response; stress-activated MAPK cascade; nerve growth factor receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; vascular endothelial growth factor receptor signaling pathway; innate immune response; macropinocytosis; small molecule metabolic process; cellular response to vascular endothelial growth factor stimulus; MyD88-dependent toll-like r | 1q32 |
| MAPKAPK3 | response to stress; TRIF-dependent toll-like receptor signaling pathway; signal transduction; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; activation of MAPK activity; Ras protein signal transduction; Toll signaling pathway; peptidyl-serine phosphorylation; 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; macropinocytosis; innate immune response; nerve growth factor receptor signaling pathway; stress-activated MAPK cascade | 3p21.3 |
| MAPKAPK5 | negative regulation of TOR signaling cascade; MAPK cascade; activation of MAPK activity; regulation of translation; response to stress; signal transduction; Ras protein signal transduction; stress-induced premature senescence; protein autophosphorylation | 12q24.13 |
| MAPKAPK5-AS1 | - | 12q24.12 |
| MAPKAPK5P1 | - | - |
| MAPKBP1 | - | 15q15.1 |
| MAPRE1 | cell division; mitotic prometaphase; M phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; protein localization to microtubule; mitotic cell cycle; cell proliferation; negative regulation of microtubule polymerization | 20q11.1-q11.23 |
| MAPRE1P3 | - | - |
| MAPRE2 | cell cycle; signal transduction; mitosis; cell division; cell proliferation | 18q12.1 |
| MAPRE3 | cell cycle; cell division; positive regulation of transcription, DNA-dependent; mitosis | 2p23.3-p23.1 |
| MAPT | microtubule cytoskeleton organization; apoptotic process; cellular component disassembly involved in apoptosis; negative regulation of microtubule depolymerization; generation of neurons; positive regulation of axon extension; positive regulation of microtubule polymerization; regulation of microtubule polymerization; regulation of autophagy; cell death | 17q21.1 |
| MAPT-AS1 | - | 17q21.31 |
| MAPT-IT1 | - | 17q21.31 |
| MARC1 | oxidation-reduction process; nitrate metabolic process; detoxification of nitrogen compound | 1q41 |
| MARC2 | nitrate metabolic process; oxidation-reduction process; detoxification of nitrogen compound | 1q41 |
| MARCH1 | immune response; antigen processing and presentation of peptide antigen via MHC class II; protein polyubiquitination | 4q32.2 |
| MARCH10 | - | 17q23.2 |
| MARCH11 | - | 5p15.1 |
| MARCH2 | endocytosis; protein ubiquitination | 19p13.2 |
| MARCH3 | endocytosis | 5q23.2 |
| MARCH4 | protein ubiquitination | 2q35 |
| MARCH5 | protein localization in mitochondrion; protein polyubiquitination; protein ubiquitination; protein autoubiquitination; regulation of mitochondrial fission; positive regulation of mitochondrial fission; negative regulation of cell aging | 10q23.32-q23.33 |
| MARCH6 | protein ubiquitination; protein K48-linked ubiquitination | 5p15.2 |
| MARCH7 | - | 2q24.2 |
| MARCH8 | protein polyubiquitination; antigen processing and presentation of peptide antigen via MHC class II; negative regulation of MHC class II biosynthetic process | 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 | innate immune response; cell surface receptor signaling pathway; pattern recognition receptor signaling pathway | 2q14.2 |
| MARK1 | microtubule cytoskeleton organization; neuron migration; protein phosphorylation; cytoskeleton organization; intracellular protein kinase cascade; Wnt receptor signaling pathway | 1q41 |
| MARK2 | neuron migration; regulation of axonogenesis; regulation of cytoskeleton organization; protein phosphorylation; response to oxidative stress; intracellular protein kinase cascade; multicellular organismal development; positive regulation of neuron projection development; Wnt receptor signaling pathway; establishment of cell polarity; cell differentiation; establishment or maintenance of epithelial cell apical/basal polarity; protein autophosphorylation | 11q13.1 |
| MARK2P10 | - | 7q21.3 |
| MARK2P5 | - | - |
| MARK2P8 | - | - |
| MARK2P9 | - | 10q23.33 |
| MARK3 | - | 14q32.3 |
| MARK4 | positive regulation of cell proliferation; G1/S transition of mitotic cell cycle; G2/M transition of mitotic cell cycle; microtubule cytoskeleton organization; positive regulation of programmed cell death; microtubule bundle formation; Wnt receptor signaling pathway; protein phosphorylation; nervous system development | 19q13.3 |
| MARS | tRNA aminoacylation for protein translation; gene expression; methionyl-tRNA aminoacylation | 12q13 |
| MARS2 | methionyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; gene expression | 2q33.1 |
| MARVELD1 | cell cycle | 10q24.2 |
| MARVELD2 | sensory perception of sound | 5q13.2 |
| MARVELD3 | - | 16q22.2 |
| MAS1 | response to activity; protein kinase C signaling cascade; positive regulation of inositol phosphate biosynthetic process; cellular response to peptide hormone stimulus; regulation of inflammatory response; positive regulation of DNA replication; response to drug; response to gonadotropin stimulus; hippocampus development; anatomical structure morphogenesis; male gonad development; positive regulation of cell proliferation; negative regulation of protein phosphorylation; G-protein coupled receptor signaling pathway; cell proliferation; spermatogenesis; activation of NF-kappaB-inducing kinase activity | 6q25.3-q26 |
| MAS1LP1 | - | 6p22.1 |
| MASP1 | complement activation, lectin pathway; proteolysis; complement activation; innate immune response; negative regulation of complement activation | 3q27-q28 |
| MASP2 | proteolysis; complement activation, lectin pathway; complement activation; complement activation, classical pathway; innate immune response | 1p36.3-p36.2 |
| MAST1 | intracellular protein kinase cascade; cytoskeleton organization; protein phosphorylation | 19p13.2 |
| MAST2 | regulation of interleukin-12 biosynthetic process; spermatid differentiation; protein phosphorylation | 1p34.1 |
| MAST3 | - | 19p13.11 |
| MAST4 | - | 5q12.3 |
| MAST4-IT1 | - | - |
| MASTL | response to DNA damage stimulus; regulation of cell cycle; mitosis; cell division; G2/M transition of mitotic cell cycle; negative regulation of protein phosphatase type 2A activity; phosphorylation | 10p12.1 |
| MAT1A | methylation; sulfur amino acid metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; xenobiotic metabolic process; S-adenosylmethionine biosynthetic process; cellular amino acid metabolic process | 10q22 |
| MAT2A | circadian rhythm; xenobiotic metabolic process; response to light stimulus; response to hormone stimulus; methylation; cellular nitrogen compound metabolic process; response to drug; small molecule metabolic process; response to cAMP; S-adenosylmethionine biosynthetic process; sulfur amino acid metabolic process | 2p11.2 |
| MAT2B | extracellular polysaccharide biosynthetic process; small molecule metabolic process; cellular nitrogen compound metabolic process; methylation; xenobiotic metabolic process; S-adenosylmethionine biosynthetic process; sulfur amino acid metabolic process | 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 | mitosis; cell division; cell cycle; chromosome segregation; maintenance of mitotic sister chromatid cohesion | 19p13.11 |
| MAVS | signal transduction; negative regulation of type I interferon production; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of transcription factor import into nucleus; defense response to bacterium; positive regulation of protein import into nucleus, translocation; 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; interspecies interaction between organisms; innate immune response; positive regulation of transcription from RNA polymerase II promoter; response to virus; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of defense response to virus by host; activation of innate immune response; positive regulation of protein phosphorylation; positive regulation of type I interferon-mediated signaling pathway; cellular response to exogenous dsRNA; positive regulation of chemo | 20p13 |
| MAX | cellular response to peptide hormone stimulus; retina development in camera-type eye; neuron apoptosis; response to axon injury; response to insulin stimulus; response to organic nitrogen; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; protein complex assembly; negative regulation of gene expression; cellular response to starvation | 14q23 |
| MAZ | regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase II promoter; termination of RNA polymerase II transcription | 16p11.2 |
| MB | brown fat cell differentiation; enucleate erythrocyte differentiation; response to hydrogen peroxide; slow-twitch skeletal muscle fiber contraction; response to hormone stimulus; heart development; transport; response to hypoxia | 22q13.1 |
| MB21D1 | response to virus | 6q13 |
| MB21D2 | - | 3q29 |
| MBD1 | negative regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 18q21 |
| MBD2 | positive regulation of Wnt receptor signaling pathway; regulation of cell proliferation; maternal behavior; cellular protein complex assembly; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 18q21 |
| MBD3 | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; in utero embryonic development; methylation-dependent chromatin silencing; histone acetylation; tissue development | 19p13.3 |
| MBD3L1 | regulation of transcription, DNA-dependent | 19p13.2 |
| MBD3L2 | - | 19p13.2 |
| MBD4 | DNA damage response, signal transduction resulting in induction of apoptosis; response to radiation; depyrimidination; base-excision repair, AP site formation; base-excision repair; DNA repair | 3q21.3 |
| MBD5 | - | 2q23.1 |
| MBD6 | - | - |
| MBIP | histone H3 acetylation; inactivation of MAPK activity involved in osmosensory signaling pathway | 14q13.3 |
| MBL2 | response to oxidative stress; complement activation, classical pathway; innate immune response; opsonization; negative regulation of growth of symbiont in host; killing by host of symbiont cells; defense response to Gram-positive bacterium; positive regulation of phagocytosis; acute-phase response; complement activation; complement activation, lectin pathway | 10q11.2 |
| MBL3P | - | 10q22.3 |
| MBLAC1 | - | 7q22.1 |
| MBLAC2 | - | 5q14.3 |
| MBNL1 | regulation of alternative nuclear mRNA splicing, via spliceosome; myoblast differentiation; regulation of RNA splicing; embryonic limb morphogenesis; RNA splicing; skeletal muscle tissue development; nervous system development; mRNA processing; mRNA splice site selection; in utero embryonic development | 3q25 |
| MBNL1-AS1 | - | 3q25.1 |
| MBNL2 | mRNA processing; regulation of RNA splicing | 13q32.1 |
| MBNL3 | negative regulation of myoblast differentiation; mRNA processing; multicellular organismal development; regulation of RNA splicing | 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 | chromatin modification; regulation of transcription, DNA-dependent | 17q21.33 |
| MBTPS1 | lipid metabolic process; regulation of transcription factor import into nucleus; endoplasmic reticulum unfolded protein response; cholesterol metabolic process; steroid metabolic process; metabolic process; activation of signaling protein activity involved in unfolded protein response; proteolysis | 16q24 |
| MBTPS2 | activation of signaling protein activity involved in unfolded protein response; proteolysis; steroid metabolic process; cholesterol metabolic process; endoplasmic reticulum unfolded protein response | Xp22.12-p22.11 |
| MC1R | 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; positive regulation of cAMP biosynthetic process | 16q24.3 |
| MC4R | diet induced thermogenesis; energy reserve metabolic process; G-protein signaling, coupled to cAMP nucleotide second messenger; feeding behavior; regulation of metabolic process; insulin secretion; positive regulation of cAMP biosynthetic process; response to insulin stimulus; positive regulation of bone resorption | 18q22 |
| MCAM | glomerular filtration; anatomical structure morphogenesis; vascular wound healing; cell adhesion | 11q23.3 |
| MCAT | fatty acid biosynthetic process; metabolic 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 | cellular nitrogen compound metabolic process; leucine catabolic process; small molecule metabolic process; branched chain family amino acid catabolic process; biotin metabolic process | 3q27 |
| MCCC2 | leucine catabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; coenzyme A metabolic process; branched chain family amino acid catabolic process | 5q12-q13 |
| MCCD1 | - | 6p21.33 |
| MCEE | fatty acid beta-oxidation; short-chain fatty acid catabolic process; cellular lipid metabolic process; small molecule metabolic process; L-methylmalonyl-CoA metabolic process | 2p13.3 |
| MCEMP1 | - | 19p13.2 |
| MCF2 | regulation of Rho protein signal transduction; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; intracellular signal transduction; induction of apoptosis by extracellular signals; small GTPase mediated signal transduction; apoptotic process | Xq27 |
| MCF2L | small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; regulation of Rho protein signal transduction; apoptotic process; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction | 13q34 |
| MCF2L-AS1 | - | 13q34 |
| MCF2L2 | regulation of Rho protein signal transduction | 3q27.1 |
| MCFD2 | protein N-linked glycosylation via asparagine; vesicle-mediated transport; carboxylic acid metabolic process; post-translational protein modification; cellular protein metabolic process; protein transport | 2p21 |
| MCFD2P1 | - | 6p22.1 |
| MCHR2 | - | 6q16 |
| MCIDAS | - | 5q11.2 |
| MCL1 | cell fate determination; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; response to cytokine stimulus; cell differentiation; cellular homeostasis; multicellular organismal development; anti-apoptosis; apoptotic process | 1q21 |
| MCM10 | M/G1 transition of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint; mitotic cell cycle; DNA replication | 10p13 |
| MCM2 | G1/S transition of mitotic cell cycle; cell cycle; DNA strand elongation involved in DNA replication; cell cycle checkpoint; S phase of mitotic cell cycle; M/G1 transition of mitotic cell cycle; DNA-dependent DNA replication initiation; DNA unwinding involved in replication; mitotic cell cycle; DNA replication; nucleosome assembly | 3q21 |
| MCM3 | DNA replication; DNA strand elongation involved in 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 | 6p12 |
| MCM3AP | DNA replication; protein import into nucleus | 21q22.3 |
| MCM3AP-AS1 | - | 21q22.3 |
| MCM4 | DNA strand elongation involved in DNA replication; 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; cell cycle checkpoint | 8q11.2 |
| MCM5 | M/G1 transition of mitotic cell cycle; DNA strand elongation involved in DNA replication; DNA-dependent DNA replication initiation; DNA replication; mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint | 22q13.1 |
| MCM6 | cell cycle checkpoint; 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 | 2q21 |
| MCM7 | cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; DNA-dependent DNA replication initiation; M/G1 transition of mitotic cell cycle; mitotic cell cycle; DNA unwinding involved in replication; DNA strand elongation involved in DNA replication; response to DNA damage stimulus; cell proliferation; regulation of phosphorylation; DNA replication | 7q21.3-q22.1 |
| MCM8 | S phase of mitotic cell cycle; regulation of transcription, DNA-dependent; DNA strand elongation involved in DNA replication; DNA replication; mitotic cell cycle; cell cycle checkpoint; G1/S transition of mitotic cell cycle; M/G1 transition of mitotic cell cycle | 20p12.3 |
| MCM9 | DNA replication | 6q22.31 |
| MCMBP | S phase of mitotic cell cycle; cell division; DNA-dependent DNA replication; mitosis; cell cycle; sister chromatid cohesion | 10q26.11 |
| MCMDC2 | DNA replication | 8q13.1 |
| MCOLN1 | calcium ion transport; cellular iron ion homeostasis; transmembrane transport; transferrin transport; cation transport | 19p13.2 |
| MCOLN2 | ion transport | 1p22 |
| MCOLN3 | sensory perception of sound; auditory receptor cell differentiation; locomotory behavior; ion transport | 1p22.3 |
| MCPH1 | - | 8p23.1 |
| MCRS1 | DNA repair; histone H4-K8 acetylation; histone H4-K5 acetylation; histone H4-K16 acetylation; regulation of transcription, DNA-dependent; DNA recombination; protein modification process | 12q13.12 |
| MCTP1 | calcium-mediated signaling | 5q15 |
| MCTP2 | calcium-mediated signaling | 15q26.2 |
| MCTS1 | regulation of transcription, DNA-dependent; regulation of growth; positive regulation of cell proliferation; cell cycle; response to DNA damage stimulus | Xq24 |
| MCTS2P | - | 20q11.2 |
| MCU | protein complex oligomerization; elevation of mitochondrial calcium ion concentration; calcium ion transmembrane transport; ion transport; mitochondrial calcium ion transport; calcium-mediated signaling | 10q22.1 |
| MCUR1 | - | 6p23 |
| MDC1 | double-strand break repair; double-strand break repair via homologous recombination; DNA repair; cell cycle; intra-S DNA damage checkpoint | 6p21.3 |
| MDFI | cytoplasmic sequestering of transcription factor; trophoblast giant cell differentiation; embryonic skeletal system morphogenesis; negative regulation of DNA binding; negative regulation of Wnt receptor signaling pathway; cell differentiation; dorsal/ventral axis specification; embryo development; activation of JUN kinase activity; negative regulation of transcription from RNA polymerase II promoter | 6p21 |
| MDFIC | positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of viral transcription; interspecies interaction between organisms; regulation of Wnt receptor signaling pathway; activation of JUN kinase activity; negative regulation of protein import into nucleus | 7q31.1-q31.2 |
| MDGA1 | neuron migration; multicellular organismal development; spinal cord association neuron differentiation; nervous system development; brain development; cell differentiation | 6p21 |
| MDGA2 | spinal cord motor neuron differentiation | 14q21.3 |
| MDH1 | carbohydrate metabolic process; glucose metabolic process; gluconeogenesis; tricarboxylic acid cycle; malate metabolic process; cellular carbohydrate metabolic process; small molecule metabolic process | 2p13.3 |
| MDH1B | malate metabolic process; tricarboxylic acid cycle; carbohydrate metabolic process | 2q33.3 |
| MDH2 | carbohydrate metabolic process; glucose metabolic process; gluconeogenesis; tricarboxylic acid cycle; oxaloacetate metabolic process; malate metabolic process; internal protein amino acid acetylation; NADH metabolic process; cellular carbohydrate metabolic process; small molecule metabolic process | 7cen-q22 |
| MDK | positive regulation of cell division; multicellular organismal development; regulation of behavior; positive regulation of transcription, DNA-dependent; neuroprotection; defecation; adrenal gland development; cell differentiation; cerebral cortex development; cerebellar granular layer development; dentate gyrus development; response to wounding; short-term memory; nervous system development; behavioral fear response; signal transduction | 11p11.2 |
| MDM1 | retina development in camera-type eye | 12q15 |
| MDM2 | regulation of protein catabolic process; cellular response to hypoxia; negative regulation of cell cycle arrest; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; response to antibiotic; positive regulation of mitotic cell cycle; negative regulation of transcription, DNA-dependent; establishment of protein localization; interspecies interaction between organisms; negative regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of apoptotic process; 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 proliferation; fibroblast growth factor receptor signaling pathway; protein ubiquitination; protein destabilization; po | 12q14.3-q15 |
| MDM4 | negative regulation of cell cycle arrest; negative regulation of transcription from RNA polymerase II promoter; protein complex assembly; apoptotic process; cell proliferation; positive regulation of cell proliferation; negative regulation of cell proliferation; negative regulation of protein catabolic process; negative regulation of apoptotic process; G0 to G1 transition; protein stabilization; cellular response to hypoxia | 1q32 |
| MDN1 | ATP catabolic process; protein complex assembly | 6q15 |
| MDP1 | - | 14q12 |
| ME1 | malate metabolic process; carbohydrate metabolic process; NADP biosynthetic process; response to hormone stimulus; response to carbohydrate stimulus; cellular lipid metabolic process; small molecule metabolic process; protein tetramerization | 6q12 |
| ME2 | malate metabolic process | 18q21 |
| ME3 | oxidation-reduction process; aerobic respiration; oxygen metabolic process; malate metabolic process; pyruvate metabolic process | 11cen-q22.3 |
| MEA1 | multicellular organismal development; spermatogenesis; male gonad development; cell differentiation | 6p21.3-p21.1 |
| MEAF6 | histone H4-K8 acetylation; histone H4-K12 acetylation; histone H4-K5 acetylation; histone H4-K16 acetylation; histone H3-K14 acetylation; histone H2A acetylation; chromatin modification; regulation of transcription, DNA-dependent | 1p35.3-p33 |
| MECOM | negative regulation of JNK cascade; forebrain development; regulation of cell cycle; pericardium development; hemopoietic stem cell proliferation; embryonic forelimb morphogenesis; in utero embryonic 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 programmed cell death; regulation of cell proliferation; embryonic hindlimb morphogenesis; negative regulation of transforming growth factor beta receptor signaling pathway; cell differentiation; post-embryonic development; response to bacterium; response to external stimulus; inflammatory response; neutrophil homeostasis; regulation of transcription, DNA-dependent; apoptotic process | 3q26.2 |
| MECP2 | negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | Xq28 |
| MECR | fatty acid biosynthetic process; fatty acid metabolic process | 1p35.3 |
| MED1 | ventricular trabecula myocardium morphogenesis; liver development; embryonic placenta development; lens development in camera-type eye; thyroid hormone mediated signaling pathway; positive regulation of mammary gland epithelial cell proliferation; 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; cellular response to epidermal growth factor stimulus; transcription initiation from RNA polymerase II promoter; thyroid hormone generation; androgen biosynthetic process; multicellular organismal development; regulation of RNA biosynthetic process; positive regulation of hepatocyte proliferation; positive regulation of receptor activity; cellular response to thyroid hormone stimulus; cellular response to steroid hormone stimulus; regulation of transcription from RNA polymerase I pr | 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 | intracellular steroid hormone receptor signaling pathway; gene expression; negative regulation of Wnt receptor signaling pathway; androgen receptor signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter | Xq13 |
| MED12L | regulation of transcription from RNA polymerase II promoter | 3q25.1 |
| MED13 | positive regulation of transcription, DNA-dependent; gene expression; intracellular steroid hormone receptor signaling pathway; androgen receptor signaling pathway; transcription initiation from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter | 17q22-q23 |
| MED13L | regulation of transcription from RNA polymerase II promoter | 12q24.21 |
| MED14 | 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; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter | Xp11.4 |
| MED15 | gene expression; regulation of transcription from RNA polymerase II promoter | 22q11.2 |
| MED15P5 | - | 2q21.1 |
| MED15P7 | - | - |
| MED15P9 | - | 2q21.2 |
| MED16 | regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; 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 | 19p13.3 |
| MED17 | positive regulation of transcription from RNA polymerase II promoter; androgen receptor signaling pathway; regulation of transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; gene expression; positive regulation of transcription, DNA-dependent; intracellular steroid hormone 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 | transcription from RNA polymerase II promoter; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; gene expression | 6p21.1 |
| MED21 | positive regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent; blastocyst development | 12p11.23 |
| MED22 | regulation of transcription from RNA polymerase II promoter | 9q34.2 |
| MED23 | gene expression; transcription initiation from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 6q22.33-q24.1 |
| MED24 | protein heterooligomerization; regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; gene expression; androgen receptor signaling pathway; intracellular steroid hormone receptor signaling pathway | 17q21.1 |
| MED25 | regulation of transcription, DNA-dependent; gene expression; positive regulation of chromatin binding; positive regulation of transcription from RNA polymerase II promoter; negative regulation of fibroblast proliferation; positive regulation of cell cycle arrest; positive regulation of mediator complex assembly; negative regulation of transcription from RNA polymerase II promoter | 19q13.3 |
| MED26 | gene expression; transcription initiation from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 19p13.11 |
| MED27 | gene expression; transcription initiation from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 9q34.13 |
| MED28 | regulation of transcription, DNA-dependent | 4p16 |
| MED29 | regulation of transcription, DNA-dependent | 19q13.2 |
| MED30 | gene expression; transcription initiation from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; androgen receptor signaling pathway; intracellular steroid hormone receptor signaling pathway | 8q24.11 |
| MED31 | gene expression; regulation of transcription, DNA-dependent; protein complex assembly | 17p13.1 |
| MED4 | gene expression; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; intracellular steroid hormone receptor signaling pathway; androgen receptor signaling pathway; positive regulation of transcription, DNA-dependent | 13q14.2 |
| MED4-AS1 | - | - |
| MED6 | gene expression; regulation of transcription from RNA polymerase II promoter; positive 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 | muscle organ development; toll-like receptor 1 signaling pathway; Toll signaling pathway; innate immune response; heart development; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; transcription, DNA-dependent; transcription from RNA polymerase II promoter; apoptotic process; multicellular organismal development; nervous system development; toll-like receptor 3 signaling pathway; mitochondrial genome maintenance; negative regulation of transcription from RNA polymerase II promoter; MAPK cascade; cellular response to calcium ion; ERK5 cascade; cardiac conduction; ventricular cardiac myofibril development; stress-activated MAPK cascade; positive regulation of muscle cell differentiation; mitochondrion distribution; nerve growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; dendrite morphogenesis; muscle cell differentiation; toll-like receptor 2 signaling | 15q26 |
| MEF2C | innate immune response; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; primary heart field specification; secondary heart field specification; outflow tract morphogenesis; sinoatrial valve morphogenesis; cardiac ventricle formation; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; apoptotic process; regulation of germinal center formation; neuron differentiation; 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; positive regulation of B cell proliferation; positive regulation of bone mineralization; melanocyte differentiation; negative regulation of ossification; platelet form | 5q14.3 |
| MEF2C-AS1 | - | 5q14.3 |
| MEF2D | osteoblast differentiation; endochondral ossification; 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; chondrocyte 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 | meiosis; male meiosis I; gamete generation; spermatid development | 22q13.2 |
| MEI4 | - | - |
| MEIG1 | cell differentiation; spermatogenesis | 10p13 |
| MEIOB | - | 16p13.3 |
| MEIOC | - | 17q21.31 |
| MEIS1 | multicellular organismal development | 2p14 |
| MEIS2 | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 15q14 |
| MEIS3 | - | 19q13.32 |
| MEIS3P1 | - | 17p12 |
| MEIS3P2 | - | 17p11.2 |
| MELK | hemopoiesis; G2/M transition of mitotic cell cycle; apoptotic process; cell cycle; cell proliferation; positive regulation of apoptotic process; protein autophosphorylation; neural precursor cell proliferation | 9p13.2 |
| MEMO1 | regulation of microtubule-based process | 1p36.1-p35 |
| MEMO1P1 | - | 21q22.12 |
| MEN1 | negative regulation of osteoblast differentiation; embryo development; negative regulation of sequence-specific DNA binding transcription factor activity; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of apoptotic process; histone lysine methylation; positive regulation of protein binding; positive regulation of histone methylation; positive regulation of transforming growth factor beta receptor signaling pathway; hemopoiesis; response to gamma radiation; regulation of activin receptor signaling pathway; positive regulation of osteoblast differentiation; negative regulation of cyclin-dependent protein kinase activity; negative regulation of cell cycle; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of JNK cascade; negative regulation of organ growth; embryonic skeletal system morphogenesis; positive regulation of cell division; negative regulation of | 11q13 |
| MEOX1 | positive regulation of transcription from RNA polymerase II promoter; multicellular organismal development; somite specification | 17q21 |
| MEOX2 | limb development; palate development; blood circulation; skeletal muscle tissue development; multicellular organismal development; somite specification; angiogenesis | 7p22.1-p21.3 |
| MEOX2-AS1 | - | - |
| MEP1A | digestion; proteolysis | 6p12-p11 |
| MEP1AP2 | - | 9q21.11 |
| MEP1B | digestion; proteolysis | 18q12.2-q12.3 |
| MEPCE | - | 7q22.1 |
| MEPE | skeletal system development | 4q21.1 |
| MERTK | platelet activation; substrate adhesion-dependent cell spreading; apoptotic cell clearance; retina development in camera-type eye; vagina development; secretion by cell; negative regulation of lymphocyte activation; cell surface receptor signaling pathway; leukocyte migration; blood coagulation; spermatogenesis; protein kinase B signaling cascade; natural killer cell differentiation; protein phosphorylation; phagocytosis; cell-cell signaling | 2q14.1 |
| MESDC1 | - | 15q13 |
| MESDC2 | protein localization at cell surface; Wnt receptor signaling pathway; mesoderm development; protein folding | 15q13 |
| MESP1 | positive regulation of hepatocyte differentiation; embryonic heart tube morphogenesis; secondary heart field specification; cardiac atrium formation; heart looping; sinoatrial node cell differentiation; signal transduction involved in regulation of gene expression; positive regulation of Notch signaling pathway involved in heart induction; negative regulation of mesodermal cell fate specification; negative regulation of endodermal cell fate specification; endothelial cell differentiation; positive regulation of Notch signaling pathway; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; sinus venosus morphogenesis; cardiac muscle cell differentiation; positive regulation of striated muscle cell differentiation; lateral mesoderm development; positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; cardioblast migration to the midline invol | 15q26.1 |
| MESP2 | signal transduction involved in regulation of gene expression; mesodermal cell migration; Notch signaling pathway; somitogenesis; multicellular organismal development; positive regulation of transcription from RNA polymerase II promoter | 15q26.1 |
| MEST | mesoderm development; response to retinoic acid; regulation of lipid storage | 7q32 |
| MESTIT1 | - | 7q32.2 |
| MESTP1 | - | 6q22-q23 |
| MESTP3 | - | 4p15.1 |
| MESTP4 | - | 3p24.1 |
| MET | axon guidance; branching morphogenesis of a tube; hepatocyte growth factor receptor signaling pathway; cell proliferation; signal transduction; cell surface receptor signaling pathway; multicellular organismal development | 7q31 |
| METAP1 | N-terminal protein amino acid modification; peptidyl-methionine modification; cellular process; proteolysis; regulation of translation | 4q23 |
| METAP1D | N-terminal protein amino acid modification; cellular process; peptidyl-methionine modification; proteolysis | 2q31.1 |
| METAP2 | cellular process; N-terminal protein amino acid modification; proteolysis; peptidyl-methionine modification; protein processing | 12q22 |
| METRN | positive regulation of axonogenesis; multicellular organismal development; nervous system development; glial cell differentiation | 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 | nucleobase-containing compound metabolic process; gene expression; RNA methylation | 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 phosphorylation; protein autophosphorylation | 15q25.2 |
| MEX3C | - | 18q21.2 |
| MEX3D | posttranscriptional regulation of gene expression by mRNA localization; regulation of anti-apoptosis; mRNA destabilization | 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 | phagocytosis, engulfment; angiogenesis; phagocytosis, recognition; cell adhesion; single fertilization; positive regulation of cell proliferation; response to estrogen stimulus; interspecies interaction between organisms; positive regulation of apoptotic cell clearance | 15q25 |
| MFHAS1 | - | 8p23.1 |
| MFI2 | ion transport; iron ion transport; cellular iron ion homeostasis | 3q28-q29 |
| MFI2-AS1 | - | - |
| MFN1 | mitochondrial fusion; GTP catabolic process | 3q26.33 |
| MFN2 | blastocyst formation; protein targeting to mitochondrion; mitochondrial membrane organization; cell cycle arrest; blood coagulation; mitochondrial fusion; negative regulation of Ras protein signal transduction; camera-type eye morphogenesis; negative regulation of smooth muscle cell proliferation; mitochondrion localization | 1p36.22 |
| MFNG | pattern specification process | 22q12 |
| MFSD1 | transmembrane transport | 3q25.32 |
| MFSD10 | transport; apoptotic process; tetracycline transport; transmembrane 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 | cell death; transmembrane transport | 4q28.2 |
| MFSD9 | transmembrane transport | 2q12.1 |
| MGA | - | 15q14 |
| MGAM | small molecule metabolic process; polysaccharide digestion; starch catabolic 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; oligosaccharide metabolic process; oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 14q21 |
| MGAT3 | protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 22q13.1 |
| MGAT4A | protein N-linked glycosylation via asparagine; N-glycan processing; carbohydrate metabolic process; cellular protein metabolic process; post-translational protein modification | 2q12 |
| MGAT4B | protein N-linked glycosylation via asparagine; N-glycan processing; carbohydrate metabolic process; post-translational protein modification; cellular protein metabolic process | 5q35 |
| MGAT4C | cellular protein metabolic process; post-translational protein modification; carbohydrate metabolic process; protein N-linked glycosylation via asparagine | 12q21 |
| MGAT4D | - | 4q31.1 |
| MGAT4EP | - | 1q31 |
| MGAT5 | protein N-linked glycosylation; metabolic process; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine | 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 glucose import; N-acetylglucosamine metabolic process; glycoprotein catabolic process; protein targeting to membrane; aging; positive regulation of calcium ion transport into cytosol; negative regulation of cardiac muscle adaptation; positive regulation of cell killing; positive regulation of insulin secretion; positive regulation of protein complex disassembly; positive regulation of proteolysis; dATP metabolic process; response to steroid hormone stimulus; positive regulation of DNA metabolic process; positive regulation of mitochondrial depolarization; negative regulation of protein glycosylation; positive regulation of growth hormone secretion; necrotic cell death | 10q24.1-q24.3 |
| MGLL | lipid metabolic process; blood coagulation; inflammatory response; fatty acid biosynthetic process; regulation of signal transduction; lipid catabolic process; triglyceride catabolic process; platelet activation; arachidonic acid metabolic process; small molecule metabolic process; regulation of endocannabinoid signaling pathway; long term synaptic depression; regulation of sensory perception of pain; acylglycerol catabolic process; regulation of inflammatory response | 3q21.3 |
| MGME1 | - | 20p11.23 |
| MGMT | response to drug; cellular response to ionizing radiation; cellular response to organic cyclic compound; mammary gland epithelial cell differentiation; negative regulation of cell death; response to folic acid; positive regulation of DNA repair; response to ethanol; DNA repair; DNA methylation; DNA dealkylation involved in DNA repair; response to toxin; methylation; cellular response to oxidative stress; regulation of cysteine-type endopeptidase activity involved in apoptotic process; DNA ligation | 10q26 |
| MGP | cartilage condensation; response to calcium ion; branching morphogenesis of a tube; lung development; cell differentiation; response to hormone stimulus; response to mechanical stimulus; response to nutrient; multicellular organismal development; ossification; regulation of bone mineralization | 12p12.3 |
| MGRN1 | endosome to lysosome transport; protein ubiquitination; protein monoubiquitination; negative regulation of cAMP-mediated signaling; negative regulation of G-protein coupled receptor protein signaling pathway | 16p13.3 |
| MGST1 | glutathione metabolic process; xenobiotic metabolic process; response to organic nitrogen; response to lipopolysaccharide; Leydig cell differentiation; response to drug; protein homotrimerization; small molecule metabolic process | 12p12.3-p12.1 |
| MGST2 | small molecule metabolic process; response to lipopolysaccharide; leukotriene biosynthetic process; response to organic nitrogen; xenobiotic metabolic process; glutathione biosynthetic process; leukotriene production involved in inflammatory response | 4q28.3 |
| MGST3 | small molecule metabolic process; lipid metabolic process; xenobiotic metabolic process; signal transduction; leukotriene biosynthetic process; leukotriene production involved in inflammatory response | 1q23 |
| MIA | cell proliferation | 19q13.2 |
| MIA2 | - | 14q13.2 |
| MIA3 | negative regulation of cell adhesion; protein transport; negative regulation of cell migration; wound healing; exocytosis; positive regulation of leukocyte migration | 1q41 |
| MIAT | - | 22q12.1 |
| MIATNB | - | 22q12.1 |
| MIB1 | heart development; positive regulation of endocytosis; negative regulation of neuron differentiation; Notch signaling pathway; heart looping; neural tube formation; somitogenesis; in utero embryonic development; blood vessel development | 18q11.2 |
| MIB2 | Notch signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction | 1p36.33 |
| MICA | defense response to virus; gamma-delta T cell activation; antigen processing and presentation; regulation of immune response; defense response to bacterium; cytolysis; response to heat; stimulatory C-type lectin receptor signaling pathway; immune response to tumor cell; immune response; response to DNA damage stimulus | 6p21.33 |
| MICAL1 | oxidation-reduction process; signal transduction; cytoskeleton organization | 6q21 |
| MICAL2 | - | 11p15.3 |
| MICAL3 | - | 22q11.21 |
| MICALCL | spermatogenesis; multicellular organismal development; cell differentiation | 11p15.3 |
| MICALL1 | - | 22q13.1 |
| MICALL2 | endocytosis | 7p22.3 |
| MICB | regulation of immune response; cytolysis; antigen processing and presentation; response to retinoic acid; interspecies interaction between organisms; gamma-delta T cell activation; negative regulation of defense response to virus by host; response to heat; immune response-activating cell surface receptor signaling pathway; response to oxidative stress; immune response | 6p21.3 |
| MICE | - | 6p21.3 |
| MICU1 | elevation of mitochondrial calcium ion concentration; ion transport; defense response; calcium ion import; calcium ion transport | 10q22.1 |
| MICU2 | - | 13q12.11 |
| MICU3 | - | 8p22 |
| MID1 | positive regulation of stress-activated MAPK cascade; pattern specification process; negative regulation of microtubule depolymerization; microtubule cytoskeleton organization | Xp22 |
| MID1IP1 | protein polymerization; positive regulation of ligase activity; negative regulation of microtubule depolymerization; positive regulation of fatty acid biosynthetic process; regulation of lipid biosynthetic process | Xp11.4 |
| MID1IP1-AS1 | - | - |
| MID2 | - | Xq22.3 |
| MIDN | - | 19p13.3 |
| MIEF1 | mitochondrial fusion | 22q13 |
| MIEF2 | mitochondrion organization | 17p11.2 |
| MIEN1 | negative regulation of apoptotic process; positive regulation of cell migration; positive regulation of filopodium assembly; cell redox homeostasis | 17q12 |
| MIER1 | regulation of transcription, DNA-dependent; signal transduction; positive regulation of chromatin silencing; positive regulation of I-kappaB kinase/NF-kappaB cascade | 1p31.3 |
| MIER2 | regulation of transcription, DNA-dependent | 19p13.3 |
| MIER3 | regulation of transcription, DNA-dependent | 5q11.2 |
| MIF | innate immune response; inflammatory response; cell surface receptor signaling pathway; cell proliferation; negative regulation of gene expression; negative regulation of cell cycle arrest; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of cytokine secretion; negative regulation of cell aging; positive regulation of fibroblast proliferation; positive regulation of ERK1 and ERK2 cascade; negative regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of apoptotic process; regulation of macrophage activation; positive regulation of phosphorylation; positive regulation of peptidyl-serine phosphorylation; positive regulation of B cell proliferation; carboxylic acid metabolic process; positive regulation of protein kinase A signaling cascade; prostaglandin biosynthetic process; protein homotrimerization; positive chemotaxis | 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 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; dendrite morphogenesis; regulation of cell-matrix adhesion; positive regulation of JNK cascade; protein autophosphorylation; protein phosphorylation; response to stress; intracellular protein kinase cascade; JNK cascade; synaptic transmission; multicellular organismal development; regulation of cell-cell adhesion; regulation of cell migration; actin cytoskeleton reorganization; negative thymic T cell selection | 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 | water transport; lens development in camera-type eye; transmembrane transport; response to stimulus; canalicular bile acid transport; visual perception | 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 | kinetochore assembly; cell division; M phase of mitotic cell cycle; mitotic cell cycle; chromosome segregation; mitotic prometaphase | 17p13.2 |
| MIS18A | cell division; CenH3-containing nucleosome assembly at centromere; mitosis; nucleosome assembly; cell cycle | 21q22.11 |
| MIS18BP1 | mitosis; cell division; CenH3-containing nucleosome assembly at centromere; cell cycle; nucleosome assembly | 14q21.2 |
| MISP | - | 19p13.3 |
| MITD1 | protein transport | 2q11.2 |
| MITF | positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; melanocyte differentiation; multicellular organismal development; protein complex assembly; regulation of transcription, DNA-dependent | 3p14.2-p14.1 |
| MIXL1 | digestive tract development; endoderm formation; multicellular organismal development; heart development; cell differentiation; cell migration involved in gastrulation | 1q42.12 |
| MKI67 | organ regeneration; cell proliferation; meiosis; cell cycle; DNA metabolic process; cellular response to heat | 10q26.2 |
| MKI67IPP1 | - | 10p11.23 |
| MKI67IPP3 | - | 12p13 |
| MKI67IPP4 | - | 15q24.2 |
| MKI67IPP5 | - | 15q26.1 |
| MKI67IPP6 | - | 19q13.41 |
| MKKS | striatum development; determination of left/right symmetry; cilium assembly; social behavior; nonmotile primary cilium assembly; leptin-mediated signaling pathway; melanosome transport; negative regulation of appetite; cerebral cortex development; hippocampus development; heart development; flagellum assembly; gonad development; sensory perception of smell; spermatid development; protein folding; heart looping; fat cell differentiation; photoreceptor cell maintenance; intracellular transport; brain morphogenesis; response to stimulus; detection of mechanical stimulus involved in sensory perception of sound; pigment granule aggregation in cell center; convergent extension involved in gastrulation; cilium morphogenesis; regulation of cilium beat frequency involved in ciliary motility | 20p12 |
| MKL1 | smooth muscle cell differentiation; positive regulation of transcription from RNA polymerase II promoter; anti-apoptosis | 22q13 |
| MKL2 | regulation of transcription, DNA-dependent; multicellular organismal development; muscle organ development; cell differentiation; positive regulation of striated muscle tissue development; positive regulation of transcription from RNA polymerase II promoter | 16p13.12 |
| MKLN1 | signal transduction | 7q32 |
| MKNK1 | regulation of translation; protein phosphorylation; intracellular protein kinase cascade; fibroblast growth factor receptor signaling pathway; peptidyl-serine phosphorylation | 1p33 |
| MKNK2 | regulation of translation; protein phosphorylation; apoptotic process; cell surface receptor signaling pathway; intracellular protein kinase cascade; hemopoiesis; cellular response to arsenic-containing substance | 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 | caveolin-mediated endocytosis; cellular response to cholesterol; protein oligomerization; protein transport; ion transport; transport; positive regulation of intracellular transport; vesicle-mediated transport | 22q13.33 |
| MLEC | post-translational protein modification; cellular protein metabolic process; protein N-linked glycosylation via asparagine; protein folding; carbohydrate metabolic process | 12q24.31 |
| MLF1 | cell differentiation; multicellular organismal development; cell cycle arrest; cell cycle; transcription, DNA-dependent; myeloid progenitor cell differentiation | 3q25.1 |
| MLF2 | defense response | 12p13 |
| MLH1 | reciprocal meiotic recombination; spindle midzone assembly involved in meiosis; cellular response to organic cyclic compound; pachytene; nuclear-transcribed mRNA poly(A) tail shortening; resolution of meiotic recombination intermediates; response to hypoxia; ATP catabolic process; mismatch repair; double-strand break repair via nonhomologous end joining; cell cycle; male meiosis chromosome segregation; spermatogenesis; DNA damage response, signal transduction resulting in induction of apoptosis; oogenesis; negative regulation of mitotic recombination; isotype switching; meiotic metaphase I plate congression; response to drug; somatic hypermutation of immunoglobulin genes; response to toxin | 3p21.3 |
| MLH3 | synaptonemal complex assembly; ATP catabolic process; reciprocal meiotic recombination; male meiosis; mismatch repair; female meiosis I; protein localization | 14q24.3 |
| MLIP | - | 6p12.1 |
| MLIP-IT1 | - | - |
| MLK7-AS1 | - | 2q31.1 |
| MLKL | - | 16q23.1 |
| MLLT1 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; negative regulation of protein kinase activity | 19p13.3 |
| MLLT10 | positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 10p12 |
| MLLT11 | positive regulation of mitochondrial depolarization; positive regulation of release of cytochrome c from mitochondria; positive regulation of apoptotic process; positive regulation of transcription, DNA-dependent | 1q21 |
| MLLT3 | regulation of transcription, DNA-dependent; segment specification; anterior/posterior pattern specification | 9p22 |
| MLLT4 | adherens junction organization; cell-cell junction organization; cell adhesion; signal transduction; cell-cell signaling; cell junction assembly | 6q27 |
| MLLT4-AS1 | - | 6q27 |
| MLLT6 | regulation of transcription, DNA-dependent | 17q21 |
| MLN | cell-cell signaling; G-protein coupled receptor signaling pathway | 6p21.3 |
| MLNR | digestion; G-protein coupled receptor signaling pathway | 13q14-q21 |
| MLPH | intracellular protein transport | 2q37.3 |
| MLST8 | epidermal growth factor receptor signaling pathway; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; positive regulation of actin filament polymerization; T cell costimulation; 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 | 16p13.3 |
| MLX | small molecule metabolic process; negative regulation of transcription, DNA-dependent; energy reserve metabolic process; regulation of transcription, DNA-dependent; nucleocytoplasmic transport; positive regulation of cellular metabolic process | 17q21.1 |
| MLXIP | regulation of transcription, DNA-dependent | 12q24.31 |
| MLXIPL | positive regulation of fatty acid biosynthetic process; glucose mediated signaling pathway; positive regulation of cellular metabolic process; negative regulation of peptidyl-serine phosphorylation; regulation of fatty acid biosynthetic process; glucose homeostasis; small molecule metabolic process; positive regulation of lipid biosynthetic process; positive regulation of glycolysis; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; anatomical structure morphogenesis; fatty acid homeostasis; regulation of energy homeostasis; positive regulation of cell proliferation; negative regulation of oxidative phosphorylation; intracellular protein kinase cascade; regulation of transcription, DNA-dependent; energy reserve metabolic process; negative regulation of cell cycle arrest; negative regulation of transcription from RNA polymerase II promoter; triglyceride homeostasis | 7q11.23 |
| MLYCD | regulation of fatty acid beta-oxidation; acetyl-CoA biosynthetic process; fatty acid biosynthetic process | 16q24 |
| MMAA | - | 4q31.21 |
| MMAB | cobalamin biosynthetic process | 12q24 |
| MMACHC | - | 1p34.1 |
| MMADHC | - | 2q23.2 |
| MMD | cytolysis | 17q |
| MMD2 | - | 7p22.1 |
| MME | replicative senescence; cellular response to UV-B; cellular response to UV-A; cellular response to cytokine stimulus; beta-amyloid metabolic process; sensory perception of pain; peptide metabolic process; proteolysis; kidney development; creatinine metabolic process | 3q25.2 |
| MMEL1 | proteolysis | 1p36 |
| MMGT1 | magnesium ion transport; transport | Xq26.3 |
| MMP1 | proteolysis; blood coagulation; metabolic process; collagen catabolic process; interspecies interaction between organisms; leukocyte migration | 11q22.3 |
| MMP10 | collagen catabolic process; metabolic process; proteolysis | 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 | proteolysis; cartilage development; response to estrogen stimulus; peptide catabolic process; embryonic hindlimb morphogenesis; receptor internalization; bone mineralization; response to mechanical stimulus; metabolic process; response to hypoxia; collagen catabolic process | 11q22.3 |
| MMP14 | lung development; cell migration; response to organic cyclic compound; response to hormone stimulus; response to mechanical stimulus; metabolic process; response to oxidative stress; proteolysis; endothelial cell proliferation; response to hypoxia; ovarian follicle development; angiogenesis; ossification; astrocyte cell migration; response to estrogen stimulus; branching morphogenesis of a tube; tissue remodeling; zymogen activation; negative regulation of focal adhesion assembly | 14q11-q12 |
| MMP15 | positive regulation of catalytic activity; response to estradiol stimulus; 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; response to cAMP; collagen catabolic process; cell differentiation; response to hormone stimulus; metabolic process; multicellular organismal development; proteolysis; luteolysis; ovulation from ovarian follicle; angiogenesis | 12q14 |
| MMP2 | angiogenesis; response to hypoxia; cellular response to amino acid stimulus; bone trabecula formation; face morphogenesis; blood vessel maturation; collagen catabolic process; metabolic process; intramembranous ossification; proteolysis | 16q13-q21 |
| MMP20 | regulation of enamel mineralization; metabolic process; proteolysis | 11q22.3 |
| MMP24 | proteolysis; metabolic process; positive regulation of catalytic activity | 20q11.2 |
| MMP24-AS1 | - | 20q11.22 |
| MMP25 | metabolic process; proteolysis; inflammatory response | 16p13.3 |
| MMP26 | collagen catabolic process; proteolysis | 11p15 |
| MMP27 | metabolic process; collagen catabolic process; proteolysis | 11q24 |
| MMP28 | metabolic process; proteolysis | 17q21.1 |
| MMP3 | cellular response to cell-matrix adhesion; female pregnancy; cellular response to amino acid stimulus; response to interleukin-1; wound healing; response to tumor necrosis factor; response to lipopolysaccharide; response to estradiol stimulus; collagen catabolic process; metabolic process; response to hypoxia; proteolysis | 11q22.3 |
| MMP7 | antibacterial peptide secretion; proteolysis; metabolic process; collagen catabolic process; regulation of cell proliferation; defense response to Gram-positive bacterium; defense response to Gram-negative bacterium; response to drug | 11q21-q22 |
| MMP8 | ossification; proteolysis; metabolic process; collagen catabolic process | 11q22.3 |
| MMP9 | collagen catabolic process; extracellular matrix organization; positive regulation of synaptic plasticity; response to estradiol stimulus; response to lipopolysaccharide; response to retinoic acid; response to tumor necrosis factor; response to nicotine; response to drug; positive regulation of apoptotic process; response to ethanol; positive regulation of angiogenesis; tissue remodeling; positive regulation of keratinocyte migration; response to hyperoxia; anatomical structure regression; cellular response to interleukin-1; cellular response to low-density lipoprotein particle stimulus; cellular response to cell-matrix adhesion; proteolysis; response to mechanical stimulus; response to heat; response to radiation; metabolic process; response to nutrient; response to oxidative stress; macrophage differentiation; response to hypoxia; ossification; skeletal system development; cell growth; transformation of host cell by virus | 20q11.2-q13.1 |
| MMRN1 | platelet activation; blood coagulation; cell adhesion; platelet degranulation | 4q22 |
| MMRN2 | - | 10q23.2 |
| MMS19 | transcription, DNA-dependent; nucleotide-excision repair; two-component signal transduction system (phosphorelay); chromosome segregation; response to hormone stimulus; positive regulation of transcription, DNA-dependent | 10q24-q25 |
| MMS22L | replication fork processing; DNA repair; double-strand break repair via homologous recombination | 6q16.1 |
| MN1 | intramembranous ossification | 22q12.1 |
| MNAT1 | negative regulation of apoptotic process; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; S phase of mitotic cell cycle; response to calcium ion; regulation of catalytic activity; positive regulation of viral transcription; positive regulation of smooth muscle cell proliferation; positive regulation of transcription from RNA polymerase II promoter; multicellular organismal metabolic process; ventricular system development; viral reproduction; gene expression; cell proliferation; adult heart development; protein phosphorylation; protein complex assembly; mRNA capping; transcription elongation 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; transcrip | 14q23 |
| MND1 | meiosis; DNA recombination | 4q31.3 |
| MNDA | response to DNA damage stimulus; negative regulation of B cell proliferation; positive regulation of apoptotic process; B cell receptor signaling pathway; regulation of transcription, DNA-dependent; cellular defense response | 1q22 |
| MNS1 | meiosis | 15q21.3 |
| MNT | multicellular organismal development; regulation of cell cycle; regulation of apoptotic process; negative regulation of cell proliferation; cell aging; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 17p13.3 |
| MNX1 | regulation of transcription from RNA polymerase II promoter; humoral immune response; regulation of transcription, DNA-dependent; neuron migration; motor axon guidance; post-embryonic development; anatomical structure morphogenesis; diaphragm development; neuron projection morphogenesis; cell morphogenesis involved in neuron differentiation; endocrine pancreas development; central nervous system neuron differentiation; dorsal/ventral neural tube patterning; nerve development; spinal cord motor neuron cell fate specification | 7q36 |
| MNX1-AS1 | - | 7q36.3 |
| MOAP1 | activation of cysteine-type endopeptidase activity involved in apoptotic process; cellular component disassembly involved in apoptosis; apoptotic nuclear change | 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 | water-soluble vitamin metabolic process; small molecule metabolic process; vitamin metabolic process; Mo-molybdopterin cofactor biosynthetic process; molybdopterin cofactor biosynthetic process; molybdopterin cofactor metabolic process | 18q12 |
| MOCS1 | vitamin metabolic process; small molecule metabolic process; molybdopterin cofactor biosynthetic process; Mo-molybdopterin cofactor biosynthetic process; water-soluble vitamin metabolic process | 6p21.3 |
| MOCS1P1 | - | 16q12.1 |
| MOCS2 | vitamin metabolic process; water-soluble vitamin metabolic process; Mo-molybdopterin cofactor biosynthetic process; molybdopterin cofactor biosynthetic process; small molecule metabolic process | 5q11 |
| MOCS3 | 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; tRNA wobble uridine modification; small molecule 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; glycerol metabolic process; diacylglycerol biosynthetic process | 2q36.1 |
| MOGAT2 | triglyceride biosynthetic process; intestinal absorption; lipid biosynthetic process; glycerol metabolic process; diacylglycerol biosynthetic process | 11q13.5 |
| MOGAT3 | glycerol metabolic process; lipid biosynthetic process | 7q22.1 |
| MOGS | protein N-linked glycosylation via asparagine; oligosaccharide metabolic process; protein N-linked glycosylation; protein folding; post-translational protein modification; cellular protein metabolic process | 2p13.1 |
| MOK | protein phosphorylation; signal transduction | 14q32 |
| MON1A | - | 3p21.31 |
| MON1B | - | 16q23.1 |
| MON2 | protein transport; Golgi to endosome transport | 12q14.1 |
| MOP-1 | - | 4q21.22 |
| MORC1 | cell differentiation; multicellular organismal development; spermatogenesis | 3q13 |
| MORC2 | - | 22q12.2 |
| MORC2-AS1 | - | 22q12.2 |
| MORC3 | peptidyl-serine phosphorylation; protein phosphorylation; cell aging; maintenance of protein location in nucleus; protein stabilization; negative regulation of fibroblast proliferation; post-embryonic development | 21q22.13 |
| MORC4 | - | Xq22.3 |
| MORF4 | - | 4q34.1 |
| MORF4L1 | cell proliferation; regulation of transcription, DNA-dependent; DNA recombination; DNA repair; double-strand break repair via homologous recombination; histone H2A acetylation; histone H4 acetylation; regulation of growth; chromatin modification; histone deacetylation | 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 | gene silencing by RNA; regulation of transcription, DNA-dependent; mRNA cleavage involved in gene silencing by miRNA | 1p13.2 |
| MOV10L1 | multicellular organismal development; germ cell development; spermatogenesis | 22q13.33 |
| MOXD1 | catecholamine metabolic process | 6q23.2 |
| MOXD2P | catecholamine metabolic process | 7q34 |
| MPC1 | - | 6q27 |
| MPC2 | - | 1q24 |
| MPDU1 | oligosaccharide biosynthetic process; transport; dolichol-linked oligosaccharide biosynthetic process; protein folding | 17p13.1-p12 |
| MPDZ | interspecies interaction between organisms | 9p23 |
| MPEG1 | - | 11q12.1 |
| MPG | DNA repair; base-excision repair; base-excision repair, AP site formation; DNA dealkylation involved in DNA repair; depurination | 16p13.3 |
| MPHOSPH10 | RNA splicing, via transesterification reactions; rRNA processing; RNA processing; RNA splicing; negative regulation of phosphatase activity | 2p13.3 |
| MPHOSPH6 | M phase of mitotic cell cycle; maturation of 5.8S rRNA | 16q23.3 |
| MPHOSPH8 | regulation of DNA methylation; negative regulation of transcription, DNA-dependent; cell cycle | 13q12.11 |
| MPHOSPH9 | M phase of mitotic cell cycle | 12q24.31 |
| MPI | dolichol-linked oligosaccharide biosynthetic process; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; GDP-mannose biosynthetic process; metabolic process; carbohydrate metabolic process | 15q22-qter |
| MPL | cell surface receptor signaling pathway; blood coagulation; cell proliferation; platelet activation | 1p34 |
| MPLKIP | cell division; mitosis; cell cycle | 7p14.1 |
| MPND | proteolysis | 19p13.3 |
| MPO | negative regulation of growth of symbiont in host; oxidation-reduction process; defense response to fungus; hydrogen peroxide catabolic process; 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; response to mechanical stimulus; hypochlorous acid biosynthetic process; response to yeast | 17q23.1 |
| MPP1 | signal transduction; regulation of neutrophil chemotaxis | Xq28 |
| MPP2 | signal transduction | 17q12-q21 |
| MPP3 | signal transduction | 17q21.31 |
| MPP4 | - | 2q33.2 |
| MPP5 | cell junction assembly; myelin assembly; protein localization to myelin sheath abaxonal region; peripheral nervous system myelin maintenance; cell-cell junction organization; establishment of protein localization in plasma membrane; tight junction assembly | 14q23.3 |
| MPP6 | protein complex assembly | 7p15 |
| MPP7 | positive regulation of signal transduction; establishment of cell polarity; positive regulation of protein complex assembly; tight junction assembly; protein localization to adherens junction | 10p12.1 |
| MPPE1 | GPI anchor biosynthetic process; vesicle-mediated transport; ER to Golgi vesicle-mediated transport | 18p11.21 |
| MPPED1 | - | 22q13.31 |
| MPPED2 | nervous system development | 11p13 |
| MPRIP | - | 17p11.2 |
| MPRIPP1 | - | - |
| MPST | cyanate catabolic process; response to toxin | 22q13.1 |
| MPV17 | mitochondrial genome maintenance; sensory perception of sound; glomerular basement membrane development; cellular response to reactive oxygen species; homeostatic process; regulation of reactive oxygen species metabolic process; inner ear development | 2p23.3 |
| MPV17L | - | 16p13.11 |
| MPV17L2 | - | 19p13.11 |
| MPZ | synaptic transmission | 1q23.3 |
| MPZL1 | cell-cell signaling; transmembrane receptor protein tyrosine kinase signaling pathway | 1q24.2 |
| MPZL2 | T cell differentiation in thymus; anatomical structure morphogenesis; homophilic cell adhesion | 11q24 |
| MPZL3 | cell adhesion | 11q23.3 |
| MR1 | antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation; immune response | 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 | GTP catabolic process; actin cytoskeleton organization; muscle organ development; multicellular organismal development; Ras protein signal transduction; signal transduction | 3q22.3 |
| MRC1 | receptor-mediated endocytosis | 10p12.33 |
| MRC2 | endocytosis | 17q23.2 |
| MRE11A | regulation of mitotic recombination; nucleic acid phosphodiester bond hydrolysis; positive regulation of kinase activity; negative regulation of DNA endoreduplication; DNA duplex unwinding; positive regulation of protein autophosphorylation; cell proliferation; heart development; reciprocal meiotic recombination; meiosis; cell cycle checkpoint; double-strand break repair via homologous recombination; DNA repair; double-strand break repair; double-strand break repair via nonhomologous end joining; DNA recombination; telomere maintenance via telomerase; sister chromatid cohesion; synapsis | 11q21 |
| MRE11B | - | 3q25 |
| MREG | developmental pigmentation; anagen; melanocyte differentiation | 2q35 |
| MRFAP1 | - | 4p16.1 |
| MRFAP1L1 | - | 4p16.1 |
| MRGBP | - | 20q13.33 |
| MRGPRF | - | 11q13.3 |
| MRGPRX3 | - | 11p15.1 |
| MRGPRX4 | - | 11p15.1 |
| MRI1 | small molecule metabolic process; cellular biosynthetic process; cellular nitrogen compound metabolic process; cellular amino acid biosynthetic process; polyamine metabolic process; sulfur amino acid metabolic process; L-methionine salvage from methylthioadenosine; methionine biosynthetic 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; translation; positive regulation of transcription, DNA-dependent | 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 | rRNA import into mitochondrion; translation; transport | 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 | apoptotic process; translation | 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 | DNA damage response, detection of DNA damage; peptide biosynthetic process; translation | 2q12.1 |
| MRRF | ribosome disassembly; translation | 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; humoral immune response; G-protein coupled receptor signaling pathway; activation of phospholipase C activity; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; cell proliferation; positive regulation of mast cell degranulation; cytokine secretion; regulation of release of sequestered calcium ion into cytosol; calcium ion transmembrane transport | 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 | palate development; branchiomeric skeletal muscle development; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; diaphragm development | 8q21 |
| MSC-AS1 | - | 8q13.3 |
| MSH2 | somatic hypermutation of immunoglobulin genes; positive regulation of helicase activity; negative regulation of DNA recombination; isotype switching; negative regulation of reciprocal meiotic recombination; maintenance of DNA repeat elements; negative regulation of neuron apoptosis; 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; ATP catabolic process; DNA repair; postreplication repair; response to organic cyclic compound; meiotic mismatch repair; in utero embryonic development; oxidative phosphorylation; response to UV-B; response to X-ray; male gonad development; determination of adult lifespan; spermatogenesis; germ cell development; cell cycle arrest; meiotic gene conversion; double-strand break repair; mismatch repair | 2p21 |
| MSH3 | negative regulation of DNA recombination; meiotic mismatch repair; DNA repair; mismatch repair; reciprocal meiotic recombination; somatic recombination of immunoglobulin gene segments; maintenance of DNA repeat elements; positive regulation of helicase activity | 5q11-q12 |
| MSH4 | meiotic mismatch repair; ovarian follicle development; meiosis; reciprocal meiotic recombination; spermatogenesis; female gamete generation; homologous chromosome segregation; chiasma assembly | 1p31 |
| MSH5 | meiosis; reciprocal meiotic recombination; meiotic prophase II; mismatch repair; meiotic mismatch repair; homologous chromosome segregation; chiasma assembly | 6p21.3 |
| MSH6 | meiotic mismatch repair; positive regulation of helicase activity; determination of adult lifespan; induction of apoptosis by intracellular signals; DNA damage response, signal transduction resulting in induction of apoptosis; response to UV; reciprocal meiotic recombination; mismatch repair; DNA repair; ATP catabolic process; somatic hypermutation of immunoglobulin genes; somatic recombination of immunoglobulin gene segments; maintenance of DNA repeat elements; isotype switching; negative regulation of DNA recombination | 2p16 |
| MSI1 | nervous system development; response to hormone stimulus; epithelial cell differentiation | 12q24 |
| MSI2 | stem cell development | 17q22 |
| MSL1 | chromatin modification; histone H4-K16 acetylation | 17q21.1 |
| MSL2 | histone H4-K16 acetylation | 3q22.3 |
| MSL3 | histone H4-K16 acetylation; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; multicellular organismal development; chromatin modification | Xp22.3 |
| MSL3P1 | regulation of transcription, DNA-dependent; chromatin modification | 2q37.1 |
| MSLN | cell adhesion | 16p13.3 |
| MSLNL | cell adhesion | 16p13.3 |
| MSMB | - | 10q11.2 |
| MSMO1 | fatty acid biosynthetic process; cholesterol biosynthetic process; steroid metabolic process; small molecule metabolic process; fatty acid metabolic process | 4q32-q34 |
| MSMP | - | 9p13.3 |
| MSN | cellular component movement; leukocyte cell-cell adhesion; membrane to membrane docking; leukocyte migration; regulation of lymphocyte migration | Xq11.1 |
| MSNP1 | - | 5p14.1 |
| MSR1 | receptor-mediated endocytosis; positive regulation of cholesterol storage; positive regulation of macrophage derived foam cell differentiation; lipoprotein transport; response to chemical stimulus; cholesterol transport; plasma lipoprotein particle clearance | 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; single fertilization; positive regulation of protein kinase B signaling cascade; cellular component movement; defense response; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; multicellular organismal development; innate immune response; positive regulation of MAP kinase activity; response to virus | 3p21.3 |
| MSTN | negative regulation of muscle hypertrophy; transforming growth factor beta receptor signaling pathway; muscle organ development; response to heat; response to gravity; skeletal muscle atrophy; response to estrogen stimulus; response to muscle activity; ovulation cycle process; response to testosterone stimulus; growth; skeletal muscle tissue regeneration; response to electrical stimulus; response to glucocorticoid stimulus; negative regulation of skeletal muscle tissue growth; positive regulation of transcription, DNA-dependent; response to ethanol | 2q32.2 |
| MSTO1 | mitochondrion organization; mitochondrion distribution; protein polymerization | 1q22 |
| MSX1 | positive regulation of BMP signaling pathway; middle ear morphogenesis; odontogenesis of dentin-containing tooth; regulation of odontogenesis; embryonic nail plate morphogenesis; 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 transcription from RNA polymerase II promoter; stem cell differentiation; protein stabilization; negative regulation of striated muscle cell differentiation; palate development; face morphogenesis; bone morphogenesis; cartilage morphogenesis; mammary gland epithelium development; BMP signaling pathway involved in heart development; negative regulation of transcription regulatory region DNA binding; embryonic forelimb morphogenesis; negative regulation of transcription from RNA polymerase II promoter; cell morphogenesis; in utero embryonic development; epithelial to mesenchymal transition; heart morphogenesis; epithelial to mesenchymal transiti | 4p16.2 |
| MSX2 | negative regulation of transcription from RNA polymerase II promoter; osteoblast differentiation; chondrocyte development; osteoblast development; outflow tract septum morphogenesis; epithelial to mesenchymal transition involved in endocardial cushion formation; endochondral bone growth; negative regulation of CREB transcription factor activity; BMP signaling pathway involved in heart development; enamel mineralization; cellular response to growth factor stimulus; cellular response to estradiol stimulus; negative regulation of transcription regulatory region DNA binding; anterior/posterior pattern specification; signal transduction involved in regulation of gene expression; positive regulation of BMP signaling pathway; negative regulation of apoptotic process; embryonic forelimb morphogenesis; embryonic hindlimb morphogenesis; wound healing, spreading of epidermal cells; anagen; odontogenesis; wound healing; embryonic nail plate morphogenesis; branching involved in mammary gland duct morphogenesis; mammary gl | 5q35.2 |
| MSX2P1 | - | 17q22 |
| MT1A | cellular response to zinc ion; cellular response to cadmium ion; negative regulation of growth | 16q13 |
| MT1B | cellular response to zinc ion; negative regulation of growth | 16q13 |
| MT1DP | - | 16q13 |
| MT1E | cellular response to zinc ion; cellular response to cadmium ion; negative regulation of growth | 16q13 |
| MT1F | negative regulation of growth; cellular response to cadmium ion | 16q13 |
| MT1G | cellular response to zinc ion; cellular response to cadmium ion; negative regulation of growth; monocyte differentiation; cellular response to vascular endothelial growth factor stimulus; monocyte activation; cellular response to copper ion | 16q13 |
| MT1H | cellular zinc ion homeostasis; nitric oxide mediated signal transduction; detoxification of copper ion; negative regulation of growth; cellular response to cadmium ion; cellular response to zinc ion | 16q13 |
| MT1HL1 | - | 1q43 |
| MT1IP | - | 16q13 |
| MT1JP | - | 16q13 |
| MT1L | - | 16q13 |
| MT1M | negative regulation of growth | 16q13 |
| MT1X | cellular response to zinc ion; cellular response to cadmium ion; negative regulation of growth; cellular response to erythropoietin; response to metal ion | 16q13 |
| MT2A | cellular copper ion homeostasis; cytokine-mediated signaling pathway; cellular response to drug; cellular response to interleukin-3; cellular response to erythropoietin; negative regulation of growth; interferon-gamma-mediated signaling pathway; cellular response to zinc ion | 16q13 |
| MT2P1 | - | 4q13.2 |
| MT3 | cholesterol catabolic process; removal of superoxide radicals; histone modification; astrocyte development; positive regulation of cell death; positive regulation of necrotic cell death; positive regulation of gene expression; negative regulation of autophagy; cell proliferation; cellular zinc ion homeostasis; cellular metal ion homeostasis; zinc ion transport; protein import into nucleus, translocation; response to hypoxia; positive regulation of protein phosphorylation; energy reserve metabolic process; negative regulation of necrotic cell death; negative regulation of neuron apoptosis; cellular lipid catabolic process; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; negative regulation of neurogenesis; protein stabilization; negative regulation of oxidoreductase activity; zinc ion homeostasis; cadmium ion homeostasis; regulation of protein glycosylation; negative regulation of axon extension; ERK1 and ERK2 cascade; positive regulation of ERK1 and ER | 16q13 |
| MTA1 | signal transduction | 14q32.3 |
| MTA2 | positive regulation of transcription from RNA polymerase II promoter; chromatin assembly or disassembly; negative regulation of transcription from RNA polymerase II promoter | 11q12-q13.1 |
| MTA3 | - | 2p21 |
| MTAP | nucleobase-containing compound metabolic process; response to testosterone stimulus; purine ribonucleoside salvage; polyamine metabolic process; nicotinamide riboside catabolic process; nucleoside metabolic process; L-methionine salvage from methylthioadenosine; sulfur amino acid metabolic process; cellular nitrogen compound metabolic process; small molecule 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 | transport; neuronal ion channel clustering; positive regulation of apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of signal transduction | 6p21.2 |
| MTCH2 | transport | 11p11.2 |
| MTCL1 | - | 18p11.22 |
| MTCO2P1 | - | 20q13.33 |
| MTCO2P3 | - | - |
| MTCO3P1 | - | 6p21.3 |
| MTCP1 | cell proliferation | Xq28 |
| MTCYBP3 | - | - |
| MTCYBP4 | - | - |
| MTDH | positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of protein kinase B signaling cascade; positive regulation of NF-kappaB transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; positive regulation of autophagy; lipopolysaccharide-mediated signaling pathway; tight junction assembly; negative regulation of apoptotic process; positive regulation of angiogenesis | 8q22.1 |
| MTERF1 | DNA geometric change; gene expression; termination of mitochondrial transcription; regulation of transcription, DNA-dependent; transcription termination, DNA-dependent; transcription from mitochondrial promoter | 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 | regulation of transcription from RNA polymerase II promoter; response to oxidative stress; response to metal ion; positive regulation of transcription from RNA polymerase II promoter; response to cadmium ion | 1p33 |
| MTF2 | - | 1p22.1 |
| MTFMT | biosynthetic process | 15q22.31 |
| MTFP1 | mitochondrial fission; apoptotic process | 22q |
| MTFR1 | - | 8q13.1 |
| MTFR1L | - | 1p36.11 |
| MTFR2 | - | 6q23.3 |
| MTG1 | - | 10q26.3 |
| MTG2 | - | 20q13.33 |
| MTHFD1 | purine nucleotide biosynthetic process; folic acid metabolic process; folic acid-containing compound biosynthetic process; methionine biosynthetic process; cellular amino acid biosynthetic process; water-soluble vitamin metabolic process; vitamin metabolic process; one-carbon metabolic process; histidine biosynthetic process; small molecule metabolic process | 14q24 |
| MTHFD1L | one-carbon metabolic process; folic acid-containing compound metabolic process; folic acid-containing compound biosynthetic process; formate metabolic process; tetrahydrofolate metabolic process; oxidation-reduction process | 6q25.1 |
| MTHFD1P1 | - | Xp11.21 |
| MTHFD2 | tetrahydrofolate metabolic process; response to heat; folic acid-containing compound biosynthetic process; oxidation-reduction process; one-carbon metabolic process | 2p13.1 |
| MTHFD2L | oxidation-reduction process; histidine biosynthetic process; cellular amino acid biosynthetic process; one-carbon metabolic process; purine nucleotide biosynthetic process; methionine biosynthetic process; folic acid-containing compound biosynthetic process | 4q13.3 |
| MTHFD2P1 | - | 3q11.2 |
| MTHFD2P4 | - | 4q32.2 |
| MTHFD2P6 | - | 5p13.1 |
| MTHFD2P7 | - | 3q26.33 |
| MTHFR | water-soluble vitamin metabolic process; cellular amino acid metabolic process; homocysteine metabolic process; folic acid metabolic process; small molecule metabolic process; methionine biosynthetic process; blood circulation; vitamin 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 | translation; regulation of translational initiation | 2p16.1 |
| MTIF3 | regulation of translational initiation; translation; ribosome disassembly | 13q12.2 |
| MTL5 | cellular metal ion homeostasis; multicellular organismal development; spermatogenesis; response to metal ion; cell differentiation | 11q13.2-q13.3 |
| MTM1 | endosome to lysosome transport; protein dephosphorylation; mitochondrion morphogenesis; mitochondrion distribution; phosphatidylinositol dephosphorylation; intermediate filament organization; regulation of vacuole organization; protein transport | Xq28 |
| MTMR1 | - | Xq28 |
| MTMR10 | - | 15q13.3 |
| MTMR11 | - | 1q12-q21 |
| MTMR12 | - | 5p13.3 |
| MTMR14 | - | 3p26 |
| MTMR2 | negative regulation of receptor catabolic process; protein dephosphorylation; negative regulation of endocytosis; protein tetramerization; negative regulation of excitatory postsynaptic membrane potential; dendritic spine maintenance; negative regulation of receptor internalization; positive regulation of early endosome to late endosome transport | 11q22 |
| MTMR3 | peptidyl-tyrosine dephosphorylation; protein dephosphorylation; phosphatidylinositol dephosphorylation | 22q12.2 |
| MTMR4 | protein dephosphorylation; peptidyl-tyrosine dephosphorylation | 17q22-q23 |
| MTMR6 | protein dephosphorylation; peptidyl-tyrosine dephosphorylation | 13q12 |
| MTMR7 | protein dephosphorylation; peptidyl-tyrosine 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 | G-protein signaling, coupled to cyclic nucleotide second messenger; mating behavior; circadian rhythm | 4q35.1 |
| MTNR1B | glucose homeostasis; regulation of insulin secretion; synaptic transmission; G-protein signaling, coupled to cyclic nucleotide second messenger | 11q21-q22 |
| MTO1 | oxidation-reduction process; tRNA processing | 6q13 |
| MTOR | cellular response to hypoxia; negative regulation of cell size; cellular response to nutrient levels; TOR signaling cascade; regulation of fatty acid beta-oxidation; regulation of response to food; regulation of Rac GTPase activity; response to insulin stimulus; regulation of actin cytoskeleton organization; growth; response to amino acid stimulus; regulation of carbohydrate utilization; positive regulation of translation; positive regulation of endothelial cell proliferation; regulation of protein kinase activity; positive regulation of transcription from RNA polymerase III promoter; protein autophosphorylation; positive regulation of lipid biosynthetic process; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of stress fiber assembly; negative regulation of NFAT protein import into nucleus; positive regulation of protein kinase B signaling cascade; T cell costimulation; positive regulation o | 1p36.2 |
| MTPAP | histone mRNA catabolic process; cell death; mRNA processing; mRNA polyadenylation; transcription, DNA-dependent | 10p11.23 |
| MTPN | striated muscle cell differentiation; positive regulation of NF-kappaB transcription factor activity; skeletal muscle tissue regeneration; positive regulation of cell growth; neuron differentiation; cerebellar granule cell differentiation; regulation of striated muscle tissue development; cell growth; catecholamine metabolic process; regulation of translation; regulation of barbed-end actin filament capping; positive regulation of protein metabolic process; positive regulation of macromolecule biosynthetic process; positive regulation of cardiac muscle hypertrophy | 7q33 |
| MTPN-LUZP6 | - | 7q33 |
| MTR | cellular nitrogen compound metabolic process; methylation; cellular amino acid biosynthetic process; nervous system development; xenobiotic metabolic process; protein methylation; sulfur amino acid metabolic process; small molecule metabolic process; tetrahydrofolate metabolic process; homocysteine metabolic process; pteridine-containing compound metabolic process | 1q43 |
| MTRF1 | regulation of translational termination | 13q14.1-q14.3 |
| MTRF1L | translational termination | 6q25-q26 |
| MTRNR2L1 | - | 17p11.2 |
| MTRR | cellular amino acid biosynthetic process; oxidation-reduction process; methionine biosynthetic process; methionine metabolic process | 5p15.31 |
| MTSS1 | epithelial cell proliferation involve in renal tubule morphogenesis; cellular component movement; nephron tubule epithelial cell differentiation; glomerulus morphogenesis; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; cellular response to fluid shear stress; renal tubule morphogenesis; microspike assembly; negative regulation of epithelial cell proliferation; cell adhesion; filopodium assembly; actin cytoskeleton organization | 8p22 |
| MTSS1L | signal transduction; filopodium assembly | 16q22.1 |
| MTTP | lipoprotein transport; cholesterol homeostasis; lipoprotein metabolic process; lipid transport; transport; triglyceride metabolic process; lipid metabolic process; small molecule metabolic process; response to calcium ion; protein lipidation | 4q24 |
| MTURN | - | 7p14.3 |
| MTUS1 | - | 8p22 |
| MTUS2 | - | 13q12.3 |
| MTVR2 | - | 17q23 |
| MTX1 | protein targeting to mitochondrion; protein transport | 1q21 |
| MTX1P1 | - | 1q22 |
| MTX2 | protein targeting to mitochondrion; mitochondrial transport; protein transport | 2q31.1 |
| MTX3 | protein transport; protein targeting to mitochondrion | 5q14.1 |
| MUC1 | negative regulation of transcription by competitive promoter binding; 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; O-glycan processing; positive regulation of transcription from RNA polymerase II promoter in response to stress; regulation of transcription from RNA polymerase II promoter in response to stress; post-translational protein modification; cellular protein metabolic process; positive regulation of histone H4 acetylation | 1q21 |
| MUC12 | cellular protein metabolic process; post-translational protein modification; O-glycan processing; regulation of cell growth | 7q22 |
| MUC13 | O-glycan processing; post-translational protein modification; cellular protein metabolic process | 3q21.2 |
| MUC15 | O-glycan processing; cellular protein metabolic process; post-translational protein modification | 11p14.3 |
| MUC16 | cell adhesion; O-glycan processing; post-translational protein modification; cellular protein metabolic process | 19p13.2 |
| MUC17 | O-glycan processing; cellular homeostasis; cellular protein metabolic process; post-translational protein modification | 7q22.1 |
| MUC19 | O-glycan processing; post-translational protein modification; cellular protein metabolic process | 12q12 |
| MUC2 | post-translational protein modification; O-glycan processing; cellular protein metabolic process | 11p15.5 |
| MUC20 | hepatocyte growth factor receptor signaling pathway; post-translational protein modification; cellular protein metabolic process; protein homooligomerization; activation of MAPK activity; O-glycan processing | 3q29 |
| MUC21 | post-translational protein modification; cellular protein metabolic process; O-glycan processing | 6p21.32 |
| MUC22 | - | 6p21.33 |
| MUC3A | digestion; O-glycan processing; maintenance of gastrointestinal epithelium; cellular protein metabolic process; post-translational protein modification | 7q22 |
| MUC3B | cellular protein metabolic process; post-translational protein modification; O-glycan processing | 7q22 |
| MUC4 | cellular protein metabolic process; post-translational protein modification; cell adhesion; cell-matrix adhesion; O-glycan processing | 3q29 |
| MUC5AC | cell adhesion; digestion; O-glycan processing; fibril organization; post-translational protein modification; cellular protein metabolic process | 11p15.5 |
| MUC5B | cell adhesion; post-translational protein modification; O-glycan processing; cellular protein metabolic process | 11p15.5 |
| MUC6 | maintenance of gastrointestinal epithelium; O-glycan processing; post-translational protein modification; cellular protein metabolic process | 11p15.5 |
| MUC7 | cellular protein metabolic process; post-translational protein modification; O-glycan processing | 4q13.3 |
| MUC8 | - | 12q24.33 |
| MUCL1 | cellular protein metabolic process; post-translational protein modification; O-glycan processing | 12q |
| MUL1 | signal transduction; mitochondrion localization; mitochondrial fission; induction of apoptosis; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of cell growth; protein ubiquitination; activation of JUN kinase activity; activation of cysteine-type endopeptidase activity involved in apoptotic process | 1p36.12 |
| MUM1 | DNA repair; chromatin organization | 19p13.3 |
| MUM1L1 | - | Xq22.3 |
| MURC | multicellular organismal development; cell differentiation; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; muscle organ development | 9q31.1 |
| MUS81 | DNA repair; DNA recombination | 11q13 |
| MUSK | positive regulation of protein phosphorylation; regulation of transcription, DNA-dependent; transmembrane receptor protein tyrosine kinase signaling pathway; multicellular organismal development; positive regulation of protein geranylgeranylation; skeletal muscle acetylcholine-gated channel clustering; protein autophosphorylation; positive regulation of neuron apoptosis; cell differentiation; positive regulation of gene expression; neuromuscular junction development; memory; regulation of synaptic growth at neuromuscular junction | 9q31.3-q32 |
| MUSTN1 | embryonic limb morphogenesis; tissue regeneration | 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 | mismatch repair; depurination; base-excision repair, AP site formation; base-excision repair; DNA repair | 1p34.1 |
| MVB12A | - | 19p13.11 |
| MVB12B | - | 9q33.3 |
| MVD | cholesterol biosynthetic process; positive regulation of cell proliferation; isoprenoid biosynthetic process; isopentenyl diphosphate biosynthetic process, mevalonate pathway; response to drug; small molecule metabolic process | 16q24.3 |
| MVK | small molecule metabolic process; isoprenoid biosynthetic process; cholesterol biosynthetic process | 12q24 |
| MVP | protein transport; response to drug; mRNA transport | 16p11.2 |
| MX1 | defense response; induction of apoptosis; signal transduction; response to virus; cytokine-mediated signaling pathway; type I interferon-mediated signaling pathway | 21q22.3 |
| MX2 | GTP catabolic process; defense response; response to virus; cytokine-mediated signaling pathway; type I interferon-mediated signaling pathway | 21q22.3 |
| MXD1 | regulation of transcription, DNA-dependent; multicellular organismal development; cell proliferation | 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 | regulation of transcription, DNA-dependent; negative regulation of cell proliferation; cytoplasmic sequestering of transcription factor | 10q24-q25 |
| MXRA5 | - | Xp22.33 |
| MXRA5P1 | - | Yq11.21 |
| MXRA7 | - | 17q25.1 |
| MXRA8 | - | 1p36.33 |
| MYADM | - | 19q13.42 |
| MYADML | - | 2p22.3 |
| MYADML2 | - | 17q25.3 |
| MYB | chromatin remodeling; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; 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 | positive regulation of cell cycle arrest; signal transduction by p53 class mediator resulting in induction of apoptosis; cellular response to glucose starvation; nucleocytoplasmic transport; regulation of transcription, DNA-dependent | 17p13.3 |
| MYBL1 | regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 8q22 |
| MYBL2 | regulation of transcription, DNA-dependent; mitotic cell cycle | 20q13.1 |
| MYBPC1 | cell adhesion; muscle filament sliding | 12q23.2 |
| MYBPC2 | muscle filament sliding; cell adhesion | 19q13.33 |
| MYBPC3 | 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; heart morphogenesis | 11p11.2 |
| MYBPH | regulation of striated muscle contraction; cell adhesion | 1q32.1 |
| MYBPHL | - | 1p13.3 |
| MYC | negative regulation of fibroblast proliferation; positive regulation of metanephric cap mesenchymal cell proliferation; positive regulation of fibroblast proliferation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of monocyte differentiation; fibroblast apoptosis; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; cell cycle arrest; positive regulation of epithelial cell proliferation; chromosome organization; negative regulation of cell division; canonical Wnt receptor signaling pathway; response to growth factor stimulus; positive regulation of DNA biosynthetic process; positive regulation of response to DNA damage stimulus; negative regulation of G2 phase of mitotic cell cycle; cellular response to drug; response to drug; negative regulation of transcription from RNA polymerase II promoter; MAPK cascade; branching involved in ure | 8q24.21 |
| MYCBP | spermatogenesis; regulation of transcription, DNA-dependent | 1p33-p32.2 |
| MYCBP2 | central nervous system projection neuron axonogenesis; regulation of protein localization; cell morphogenesis involved in neuron differentiation; regulation of cytoskeleton organization; branchiomotor neuron axon guidance; regulation of transcription, DNA-dependent | 13q22 |
| MYCBPAP | sensory perception of sound; cell differentiation; 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 | response to peptidoglycan; response to lipopolysaccharide; positive regulation of interleukin-17 production; positive regulation of interleukin-23 production; positive regulation of interleukin-6 production; positive regulation of tumor necrosis factor production; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 4 signaling pathway; regulation of cell proliferation; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of growth of symbiont in host; lipopolysaccharide-mediated signaling pathway; cytokine-mediated signaling pathway; immunoglobulin mediated immune response; response to virus; 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; positive regulation of chemokine biosynthetic process; 3'-UTR-mediated mRNA stabilization; innate immune response; type | 3p22 |
| MYEF2 | transcription, DNA-dependent; myotube differentiation; neuron differentiation | 15q21.1 |
| MYEOV | - | 11q13 |
| MYEOV2 | - | 2q37.3 |
| MYF6 | muscle tissue morphogenesis; positive regulation of muscle cell differentiation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; skeletal muscle tissue regeneration; muscle cell fate commitment; muscle cell differentiation; skeletal muscle tissue development; muscle organ development; multicellular organismal development; regulation of transcription from RNA polymerase II promoter; somitogenesis | 12q21 |
| MYH1 | - | 17p13.1 |
| MYH10 | substrate-dependent cell migration, cell extension; in utero embryonic development; cytokinesis after mitosis; exocytosis; 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; neuromuscular process controlling balance; cardiac myofibril assembly; ventricular cardiac muscle cell development; retina development in camera-type eye; neuron projection development; neuron migration; plasma membrane repair | 17p13 |
| MYH11 | skeletal muscle myosin thick filament assembly; cardiac muscle fiber development; elastic fiber assembly; metabolic process; axon guidance; smooth muscle contraction; muscle contraction | 16p13.11 |
| MYH13 | cellular response to starvation; muscle contraction | 17p13 |
| MYH14 | ATP catabolic process; axon guidance; metabolic process; actin filament-based movement; regulation of cell shape | 19q13.33 |
| MYH15 | - | 3q13.13 |
| MYH16 | - | 7q22.1 |
| MYH2 | muscle contraction; muscle filament sliding | 17p13.1 |
| MYH3 | actin filament-based movement; muscle filament sliding; muscle organ development | 17p13.1 |
| MYH4 | muscle contraction; response to activity; actin filament-based movement; muscle filament sliding | 17p13.1 |
| MYH6 | canonical Wnt receptor signaling pathway; ventricular cardiac muscle tissue morphogenesis; atrial cardiac muscle tissue morphogenesis; cardiac muscle fiber development; sarcomere organization; regulation of ATPase activity; regulation of heart contraction; BMP signaling pathway; myofibril assembly; actin filament-based movement; regulation of blood pressure; visceral muscle development; adult heart development; striated muscle contraction; muscle contraction; ATP catabolic process; regulation of heart rate; regulation of the force of heart contraction; in utero embryonic development; muscle filament sliding | 14q12 |
| MYH7 | ventricular cardiac muscle tissue morphogenesis; muscle filament sliding; muscle contraction; response to reactive oxygen species; regulation of heart rate; ATP catabolic process; adult heart development | 14q12 |
| MYH7B | - | 20q11.22 |
| MYH8 | muscle filament sliding; muscle contraction | 17p13.1 |
| MYH9 | blood vessel endothelial cell migration; termination of G-protein coupled receptor signaling pathway; leukocyte migration; uropod organization; actin cytoskeleton reorganization; monocyte differentiation; platelet formation; actin filament-based movement; cell-cell adhesion; protein transport; regulation of cell shape; myoblast fusion; axon guidance; integrin-mediated signaling pathway; meiotic metaphase I; membrane protein ectodomain proteolysis; ATP catabolic process; establishment of T cell polarity; in utero embryonic development; angiogenesis; cytokinesis; cell morphogenesis involved in differentiation; meiotic spindle organization; establishment of meiotic spindle localization | 22q13.1 |
| MYL1 | muscle contraction; muscle organ development; muscle filament sliding; cardiac muscle contraction | 2q33-q34 |
| MYL10 | - | 7q22.1 |
| MYL12A | - | 18p11.31 |
| MYL12B | muscle contraction; axon guidance; regulation of cell shape | 18p11.31 |
| MYL2 | muscle cell fate specification; heart contraction; ventricular cardiac muscle tissue morphogenesis; cardiac myofibril assembly; negative regulation of cell growth; muscle filament sliding; heart development; regulation of striated muscle contraction | 12q24.11 |
| MYL3 | cardiac muscle contraction; ventricular cardiac muscle tissue morphogenesis; regulation of the force of heart contraction; regulation of striated muscle contraction; skeletal muscle tissue development; muscle filament sliding; positive regulation of ATPase activity | 3p21.3-p21.2 |
| MYL4 | positive regulation of ATPase activity; muscle filament sliding; muscle organ development; regulation of the force of heart contraction; cardiac muscle contraction | 17q21-qter |
| MYL5 | regulation of muscle contraction | 4p16.3 |
| MYL6 | muscle filament sliding; skeletal muscle tissue development; axon guidance; muscle contraction | 12q13.2 |
| MYL6B | muscle contraction; skeletal muscle tissue development; muscle filament sliding | 12q13.13 |
| MYL6P3 | - | 10q21.3 |
| MYL7 | smooth muscle contraction; actin filament-based movement | 7p21-p11.2 |
| MYL8P | - | 6p21.32 |
| MYL9 | axon guidance; regulation of muscle contraction; muscle contraction | 20q11.23 |
| MYLIP | protein ubiquitination; cellular component movement; nervous system development; 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; negative regulation of low-density lipoprotein particle clearance | 6p23-p22.3 |
| MYLK | positive regulation of wound healing; cellular hypotonic response; aorta smooth muscle tissue morphogenesis; positive regulation of calcium ion transport; protein phosphorylation; muscle contraction; smooth muscle contraction; tonic smooth muscle contraction; positive regulation of cell migration; bleb assembly | 3q21 |
| MYLK-AS1 | - | 3q21 |
| MYLK2 | striated muscle contraction; regulation of MAPK cascade; skeletal muscle cell differentiation; regulation of muscle filament sliding; protein autophosphorylation; regulation of neuronal synaptic plasticity; positive regulation of fast-twitch skeletal muscle fiber contraction; neuromuscular synaptic transmission; synaptic vesicle transport; peptidyl-threonine phosphorylation; satellite cell differentiation; cardiac muscle tissue morphogenesis; cardiac muscle cell differentiation; regulation of cell cycle; positive regulation of cellular component movement; positive regulation of gene expression; cardiac muscle contraction; water transport | 20q13.31 |
| MYLK3 | protein phosphorylation; sarcomere organization; cellular response to interleukin-1; regulation of vascular permeability involved in acute inflammatory response; sarcomerogenesis; positive regulation of sarcomere organization; cardiac myofibril assembly | 16q11.2 |
| MYLK4 | - | 6p25.2 |
| MYLKP1 | - | 3p13 |
| MYLPF | skeletal muscle tissue development; immune response | 16p11.2 |
| MYNN | regulation of transcription, DNA-dependent; transcription, DNA-dependent | 3q26.2 |
| MYO10 | cytoskeleton-dependent intracellular transport; axon guidance; regulation of cell shape; regulation of filopodium assembly | 5p15.1-p14.3 |
| MYO15A | inner ear morphogenesis; locomotory behavior; sensory perception of sound | 17p11.2 |
| MYO15B | - | 17q25.1 |
| MYO16 | negative regulation of cell proliferation; cerebellum development; negative regulation of S phase of mitotic cell cycle | 13q33.3 |
| MYO16-AS1 | - | 13q33.3 |
| MYO16-AS2 | - | - |
| MYO18A | anti-apoptosis; cell migration; DNA metabolic process; actomyosin structure organization | 17q11.2 |
| MYO18B | - | 22q12.1 |
| MYO19 | - | 17q12 |
| MYO1A | vesicle localization; sensory perception of sound; cell projection organization; microvillus assembly | 12q13-q14 |
| MYO1B | actin filament bundle assembly; actin filament-based movement | 2q12-q34 |
| MYO1C | protein transport; mRNA transport | 17p13.3 |
| MYO1D | negative regulation of phosphatase activity | 17q11-q12 |
| MYO1E | vasculogenesis; in utero embryonic development; kidney development; glomerular filtration; nitrogen compound metabolic process; endocytosis; actin filament-based movement; glomerular basement membrane development; post-embryonic hemopoiesis; platelet-derived growth factor receptor signaling pathway; glomerular visceral epithelial cell development | 15q21-q22 |
| MYO1F | defense response to Gram-positive bacterium; regulation of innate immune response; neutrophil degranulation; regulation of actin cytoskeleton organization; positive regulation of cell migration; negative regulation of cell adhesion | 19p13.3-p13.2 |
| MYO1G | - | 7p13-p11.2 |
| MYO1H | - | 12q24.11 |
| MYO3A | visual perception; response to stimulus; protein autophosphorylation; sensory perception of sound | 10p11.1 |
| MYO3B | response to stimulus; visual perception | 2q31.1-q31.2 |
| MYO5A | synaptic transmission; transport; endoplasmic reticulum localization; neuromuscular process controlling balance; synapse organization; developmental pigmentation; long-chain fatty acid biosynthetic process; anagen; myelination; melanin biosynthetic process; melanocyte differentiation; insulin secretion; actin filament-based movement; metabolic process; visual perception; exocytosis; odontogenesis; regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; locomotion involved in locomotory behavior; secretory granule localization; melanosome localization; melanosome transport | 15q21 |
| MYO5B | vesicle-mediated transport; regulation of protein localization; protein transport | 18q21 |
| MYO5BP1 | - | 9p11.2 |
| MYO5BP2 | - | 9q13 |
| MYO5BP3 | - | 9q13 |
| MYO5C | - | 15q21 |
| MYO6 | positive regulation of transcription from RNA polymerase II promoter; regulation of secretion; DNA damage response, signal transduction by p53 class mediator; actin filament-based movement; sensory perception of sound; synaptic transmission; endocytosis; intracellular protein transport | 6q13 |
| MYO7A | inner ear morphogenesis; auditory receptor cell differentiation; post-embryonic organ morphogenesis; sensory perception of light stimulus; phagolysosome assembly; lysosome organization; equilibrioception; visual perception; pigment granule localization; pigment granule transport; auditory receptor cell stereocilium organization; sensory perception of sound; cell projection organization; actin filament-based movement; eye photoreceptor cell development | 11q13.5 |
| MYO7B | - | 2q21.1 |
| MYO9A | regulation of small GTPase mediated signal transduction; visual perception; small GTPase mediated signal transduction | 15q22-q23 |
| MYO9B | small GTPase mediated signal transduction; Rho protein signal transduction; actin filament-based movement; ARF protein signal transduction; positive regulation of Rho GTPase activity; regulation of small GTPase mediated signal transduction; ATP catabolic process | 19p13.1 |
| MYOC | anatomical structure morphogenesis | 1q23-q24 |
| MYOCD | ventricular cardiac muscle cell differentiation; uterus development; urinary bladder development; cellular component maintenance at cellular level; ductus arteriosus closure; positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation; positive regulation of cardiac vascular smooth muscle cell differentiation; negative regulation of skeletal muscle cell differentiation; positive regulation of cardiac muscle cell differentiation; positive regulation of cell proliferation; regulation of myoblast differentiation; positive regulation of DNA binding; regulation of histone acetylation; cardiac cell differentiation; positive regulation of transforming growth factor beta receptor signaling pathway; negative regulation of myotube differentiation; negative regulation of cardiac muscle cell apoptosis; negative regulation of cell proliferation; positive regulation of smooth muscle cell differentiation; transcription from RNA polymerase II promoter; regulation of tra | 17p11.2 |
| MYOD1 | protein phosphorylation; regulation of alternative nuclear mRNA splicing, via spliceosome; regulation of transcription from RNA polymerase II promoter; cellular response to oxygen levels; cellular response to glucocorticoid stimulus; cardiac muscle cell differentiation; positive regulation of muscle cell differentiation; skeletal muscle fiber development; positive regulation of transcription from RNA polymerase II promoter; myoblast differentiation; skeletal muscle fiber adaptation; positive regulation of skeletal muscle tissue regeneration; muscle cell fate commitment; muscle cell differentiation; skeletal muscle cell differentiation; myotube differentiation involved in skeletal muscle regeneration; cellular response to starvation; skeletal muscle tissue development; myoblast cell fate determination; muscle organ development; multicellular organismal development | 11p15.4 |
| MYOF | cellular response to heat; regulation of vascular endothelial growth factor receptor signaling pathway; blood circulation; muscle contraction; plasma membrane repair | 10q24 |
| MYOG | cellular response to growth factor stimulus; cellular response to lithium ion; positive regulation of muscle cell differentiation; skeletal muscle fiber development; muscle cell differentiation; positive regulation of transcription from RNA polymerase II promoter; skeletal muscle tissue development; muscle cell fate commitment; ossification; regulation of transcription, DNA-dependent; multicellular organismal development; muscle organ 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 | proteolysis; chromatin modification; histone deubiquitination; positive regulation of transcription, DNA-dependent | 1p32.1 |
| MYT1 | regulation of transcription, DNA-dependent; multicellular organismal development; nervous system development; cell differentiation | 20q13.33 |
| MYT1L | nervous system development; multicellular organismal development; cell differentiation | 2p25.3 |
| MYZAP | - | 15q21.3 |
| MZB1 | apoptotic process; positive regulation of immunoglobulin biosynthetic process | 5q31.2 |
| MZF1 | viral reproduction; regulation of transcription, DNA-dependent | 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 | positive regulation of cell growth; protein methylation | 21q21.3 |
| N6AMT2 | - | 13q12.11 |
| NAA10 | internal protein amino acid acetylation; N-terminal protein amino acid acetylation; DNA packaging | Xq28 |
| NAA11 | - | 4q21.21 |
| NAA15 | positive regulation of transcription, DNA-dependent; multicellular organismal development; cell differentiation; N-terminal protein amino acid acetylation; angiogenesis | 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; regulation of epidermis development; negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; endochondral ossification; myelination | 2q32.3-q33 |
| NAB2 | myelination; regulation of epidermis development; negative regulation of transcription from RNA polymerase III promoter; Schwann cell differentiation; cell proliferation; nervous system development; endochondral ossification | 12q13.3 |
| NABP1 | - | 2q32.3 |
| NABP2 | - | 12q13.3 |
| NACA | protein transport; translation; interspecies interaction between organisms; transcription, DNA-dependent | 12q23-q24.1 |
| NACA2 | protein transport | 17q23.2 |
| NACA3P | - | 4q32.3 |
| NACAD | protein transport | 7p13 |
| NACAP1 | - | 8q22.3 |
| NACC1 | induction of apoptosis; protein homooligomerization; 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; metabolic process; phosphorylation; NAD metabolic process; small molecule metabolic process; ATP metabolic process; water-soluble vitamin metabolic process | 1p36.33 |
| NADK2 | - | 5p13.2 |
| NADK2-AS1 | - | 5p13.2 |
| NADSYN1 | small molecule metabolic process; NAD metabolic process; nitrogen compound metabolic process; NAD biosynthetic process; vitamin metabolic process; water-soluble vitamin metabolic process | 11q13.4 |
| NAE1 | signal transduction; protein neddylation; regulation of apoptotic process; mitotic cell cycle DNA replication checkpoint; cell cycle; DNA replication | 16q22 |
| NAF1 | rRNA processing; snRNA pseudouridine synthesis; ribosome biogenesis | 4q32.2 |
| NAGA | carbohydrate catabolic process; oligosaccharide metabolic process; glycoside catabolic process; glycolipid catabolic process; glycosylceramide catabolic process | 22q11 |
| NAGK | carbohydrate phosphorylation; N-acetylglucosamine metabolic process; N-acetylmannosamine metabolic process | 2p13.3 |
| NAGLU | lysosome organization; inner ear receptor cell development; retinal rod cell development; locomotor rhythm; middle ear morphogenesis; cerebellar Purkinje cell layer development; metabolic process; nervous system development | 17q21 |
| NAGPA | carbohydrate metabolic process; protein modification process; protein targeting to lysosome; lysosome organization | 16p13.3 |
| NAGS | urea cycle; glutamate metabolic process; cellular amino acid biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 17q21.31 |
| NAIF1 | apoptotic process; induction of apoptosis | 9q34.11 |
| NAIP | anti-apoptosis; nervous system development; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of neuron apoptosis | 5q13.2 |
| NALCN | ion transport; transmembrane transport | 13q32.3 |
| NALCN-AS1 | - | 13q33.1 |
| NAMPT | positive regulation of cell proliferation; insulin receptor signaling pathway; cell-cell signaling; signal transduction; nicotinamide metabolic process; adipose tissue development; 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 | 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; negative regulation of meiosis; germ-line stem cell maintenance; cell differentiation; mRNA catabolic process; regulation of translation; spermatogenesis | 19q13.32 |
| NANOS3 | spermatogenesis; germ cell development; multicellular organismal development; anti-apoptosis; regulation of translation; cell differentiation; oogenesis; regulation of cell cycle | 19p13.13 |
| NANP | carbohydrate metabolic process; metabolic process; N-acetylneuraminate biosynthetic process | 20p11.1 |
| NANS | lipopolysaccharide biosynthetic process; carbohydrate biosynthetic process | 9p24.1-p23 |
| NAP1L1 | DNA replication; nucleosome assembly; positive regulation of cell proliferation | 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 | cellular membrane fusion; brain development; regulation of synaptic vesicle priming; cellular membrane organization; neuron differentiation; synaptic transmission, glutamatergic; SNARE complex disassembly; post-Golgi vesicle-mediated transport; apical protein localization; intracellular protein transport; intra-Golgi vesicle-mediated transport | 19q13.33 |
| NAPA-AS1 | - | - |
| NAPB | intracellular protein transport; regulation of synaptic vesicle priming; synaptic transmission, glutamatergic; 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; water-soluble vitamin metabolic process; nicotinamide 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 | surfactant homeostasis; membrane protein proteolysis; proteolysis | 19q13.33 |
| NAPSB | - | 19q13.33 |
| NARF | - | 17q25.3 |
| NARFL | iron-sulfur cluster assembly; oxygen homeostasis; response to hypoxia; regulation of transcription, DNA-dependent | 16p13.3 |
| NARG2P2 | - | 3p11.1 |
| NARS | asparaginyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; gene expression | 18q21.31 |
| NARS2 | gene expression; asparaginyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 11q14.1 |
| NASP | histone exchange; protein transport; cell proliferation; cell cycle; DNA replication; blastocyst development | 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; gastrulation with mouth forming second; multicellular organismal development | 2p13.2 |
| NAT8B | multicellular organismal development; gastrulation with mouth forming second | 2p13.1 |
| NAT8L | - | 4p16.3 |
| NAT9 | - | 17q25.1 |
| NATD1 | - | 17p11.2 |
| NAV1 | neuron migration; microtubule bundle formation; cell differentiation; nervous system development; multicellular organismal development | 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 | regulation of DNA-dependent DNA replication initiation; neuromuscular process controlling balance; regulation of fibroblast proliferation; negative regulation of neuron differentiation; isotype switching; response to drug; positive regulation of kinase activity; DNA duplex unwinding; G2/M transition checkpoint; 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; mitotic cell cycle G1/S transition checkpoint; DNA damage response, signal transduction by p53 class mediator; mitotic cell cycle G2/M transition DNA damage checkpoint; meiosis; positive regulation of cell proliferation | 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 | regulation of stress-activated MAPK cascade; macroautophagy; regulation of bone mineralization; 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 | cell adhesion; neuron cell-cell adhesion | 21q21.1 |
| NCAN | cell adhesion; axon guidance | 19p12 |
| NCAPD2 | cell division; mitotic chromosome condensation; mitosis; cell cycle | 12p13.3 |
| NCAPD2P1 | - | - |
| NCAPD3 | mitosis; cell cycle; mitotic chromosome condensation; cell division | 11q25 |
| NCAPG | cell cycle; mitotic chromosome condensation; cell division; mitosis | 4p15.33 |
| NCAPG2 | chromosome condensation; cell division; mitosis; cell cycle; inner cell mass cell proliferation | 7q36.3 |
| NCAPH | cell cycle; cell division; mitosis; mitotic chromosome condensation | 2q11.2 |
| NCAPH2 | chromosome condensation | 22q13.33 |
| NCBP1 | positive regulation of mRNA 3'-end processing; mRNA 3'-end processing; gene silencing by RNA; positive regulation of viral transcription; ncRNA metabolic process; mRNA metabolic process; mRNA processing; 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; RNA metabolic process; mRNA export from nucleus; regulation of translational initiation; transport; histone mRNA metabolic process; RNA splicing; gene expression; viral reproduction | 9q34.1 |
| NCBP2 | positive regulation of viral transcription; RNA splicing; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; gene silencing by RNA; mRNA 3'-end processing; ncRNA metabolic process; positive regulation of RNA export from nucleus; mRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; mRNA capping; regulation of translational initiation; snRNA export from nucleus; termination of RNA polymerase II transcription; mRNA export from nucleus; transcription elongation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; spliceosomal snRNP assembly; transport; histone mRNA metabolic process | 3q29 |
| NCBP2-AS2 | - | 3q29 |
| NCBP3 | - | 17p13.2 |
| NCCRP1 | protein catabolic process | 19q13.2 |
| NCDN | regulation of neuronal synaptic plasticity; bone resorption; neuron projection development | 1p34.3 |
| NCEH1 | metabolic process; lipid catabolic process | 3q26.31 |
| NCF1 | cellular defense response; GTP catabolic process; inflammatory response; response to yeast; innate immune response; protein targeting to membrane; leukocyte mediated cytotoxicity; neutrophil mediated killing of fungus; leukotriene metabolic process; respiratory burst involved in defense response; superoxide anion generation; cell proliferation; cell communication; respiratory burst; negative regulation of smooth muscle contraction; superoxide metabolic process; neutrophil mediated killing of gram-positive bacterium; hydrogen peroxide biosynthetic process | 7q11.23 |
| NCF1C | cell communication | 7q11.23 |
| NCF2 | superoxide metabolic process; innate immune response; respiratory burst; positive regulation of blood pressure; response to hyperoxia; positive regulation of neuron apoptosis; superoxide anion generation; response to drug; response to laminar fluid shear stress; response to lipid; response to progesterone stimulus; response to lipopolysaccharide; response to activity; response to organic cyclic compound; cellular defense response; aging; response to glucose stimulus; cellular response to hormone stimulus | 1q25 |
| NCF4 | oxidation-reduction process; immune response; cell communication | 22q13.1 |
| NCK1 | T cell activation; positive regulation of transcription from RNA polymerase II promoter; axon guidance; T cell receptor signaling pathway; positive regulation of T cell proliferation; positive regulation of actin filament polymerization; lamellipodium assembly; cell migration; regulation of translation; actin filament organization; signal complex assembly | 3q21 |
| NCK1-AS1 | - | - |
| NCK2 | positive regulation of transcription from RNA polymerase II promoter; regulation of translation; actin filament organization; signal transduction; signal complex assembly; epidermal growth factor receptor signaling pathway; regulation of epidermal growth factor-activated receptor activity; axon guidance; negative regulation of cell proliferation; cell migration; lamellipodium assembly; positive regulation of actin filament polymerization; positive regulation of T cell proliferation; T cell activation | 2q12 |
| NCKAP1 | central nervous system development; apoptotic process | 2q32 |
| NCKAP1L | positive regulation of neutrophil chemotaxis; positive regulation of CD8-positive, alpha-beta T cell differentiation; negative regulation of myosin-light-chain-phosphatase activity; positive regulation of T cell proliferation; response to chemical stimulus; positive regulation of phosphorylation; response to drug; T cell homeostasis; negative regulation of apoptotic process; positive regulation of CD4-positive, alpha-beta T cell differentiation; positive regulation of protein phosphorylation; positive regulation of B cell differentiation; positive regulation of gamma-delta T cell differentiation; actin polymerization-dependent cell motility; positive regulation of phagocytosis, engulfment; B cell receptor signaling pathway; erythrocyte development; positive regulation of erythrocyte differentiation; positive regulation of lymphocyte differentiation; negative regulation of interleukin-17 production; neutrophil chemotaxis; maintenance of cell polarity; positive regulation of cell adhesion mediated by integrin; | 12q13.1 |
| NCKAP5 | - | 2q21.2 |
| NCKAP5L | - | 12q13.12 |
| NCKIPSD | NLS-bearing substrate import into nucleus; cytoskeleton organization; signal transduction | 3p21 |
| NCL | angiogenesis | 2q37.1 |
| NCLN | proteolysis; regulation of signal transduction | 19p13.3 |
| NCLP1 | - | 9q34.3 |
| NCMAP | - | 1p36.11 |
| NCOA1 | positive regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent; cerebellum development; androgen receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter by galactose; response to estradiol stimulus; response to retinoic acid; positive regulation of transcription, DNA-dependent; small molecule metabolic process; cellular lipid metabolic process; cellular response to hormone stimulus; response to progesterone stimulus; estrous cycle phase | 2p23 |
| NCOA2 | small molecule metabolic process; positive regulation of transcription from RNA polymerase II promoter; cellular lipid metabolic process; androgen receptor signaling pathway; cerebellum development; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 8q13.3 |
| NCOA3 | developmental growth; positive regulation of gene expression; histone acetylation; androgen receptor signaling pathway; positive regulation of intracellular estrogen receptor signaling pathway; multicellular organism growth; receptor transactivation; cellular lipid metabolic process; small molecule metabolic process; positive regulation of keratinocyte differentiation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of sequence-specific DNA binding transcription factor activity; vagina development; mammary gland branching involved in thelarche; regulation of RNA biosynthetic process | 20q12 |
| NCOA4 | male gonad development; androgen receptor signaling pathway; positive regulation of transcription, DNA-dependent | 10q11.2 |
| NCOA5 | regulation of transcription, DNA-dependent | 20q12-q13.12 |
| NCOA6 | transcription initiation, DNA-dependent; DNA repair; DNA recombination; DNA replication; labyrinthine layer blood vessel development; positive regulation of transcription from RNA polymerase II promoter; small molecule metabolic process; cellular lipid metabolic process; positive regulation of transcription, DNA-dependent; glucocorticoid receptor signaling pathway; intracellular estrogen receptor signaling pathway; myeloid cell differentiation; response to hormone stimulus; heart development; brain development; transcription initiation from RNA polymerase II promoter | 20q11 |
| NCOA7 | cell wall macromolecule catabolic process; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 6q22.32 |
| NCOR1 | regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter; positive regulation of histone deacetylation; cerebellum development; negative regulation of transcription from RNA polymerase II promoter; chromatin modification; definitive erythrocyte differentiation; spindle assembly; negative regulation of phosphatidylinositol 3-kinase cascade; circadian regulation of gene expression; regulation of glycolysis by negative regulation of transcription from RNA polymerase II promoter; regulation of multicellular organism growth; regulation of fatty acid transport; CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation; thalamus development; transcription from RNA polymerase II promoter; cholesterol homeostasis; cellular lipid metabolic process; small molecule metabolic process; negative regulation of JNK cascade; regulation of catalytic activity | 17p11.2 |
| NCOR1P1 | - | 20p11.1 |
| NCOR1P3 | - | - |
| NCOR2 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; cellular lipid metabolic process; small molecule metabolic process; regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter | 12q24 |
| NCR1 | cellular defense response; natural killer cell activation; signal transduction; regulation of natural killer cell mediated cytotoxicity | 19q13.42 |
| NCR2 | cellular defense response; signal transduction | 6p21.1 |
| NCR3 | inflammatory response; immune response; cell recognition; positive regulation of natural killer cell mediated cytotoxicity | 6p21.3 |
| NCR3LG1 | - | 11p15.1 |
| NCS1 | negative regulation of calcium ion transport via voltage-gated calcium channel activity; phosphatidylinositol-mediated signaling; positive regulation of exocytosis; regulation of neuron projection development | 9q34 |
| NCSTN | protein processing; proteolysis; apoptotic process; membrane protein ectodomain proteolysis; Notch signaling pathway; Notch receptor processing; induction of apoptosis by extracellular signals; positive regulation of catalytic activity; membrane protein intracellular domain proteolysis; amyloid precursor protein catabolic process; nerve growth factor receptor signaling pathway | 1q22-q23 |
| ND2 | - | - |
| ND4 | - | - |
| ND4L | - | - |
| ND5 | - | - |
| ND6 | - | - |
| NDC1 | - | 1p32.3 |
| NDC80 | mitotic sister chromatid segregation; cell division; phosphatidylinositol-mediated signaling; attachment of spindle microtubules to kinetochore; mitosis; chromosome segregation; mitotic spindle organization; spindle organization; cell cycle; mitotic cell cycle; mitotic prometaphase; establishment of mitotic spindle orientation; M phase of mitotic cell cycle | 18p11.32 |
| NDE1 | nervous system development; G2/M transition of mitotic cell cycle; M phase of mitotic cell cycle; establishment of mitotic spindle orientation; mitotic prometaphase; mitotic cell cycle; multicellular organismal development; cell differentiation; centrosome duplication; cell division; establishment of chromosome localization; cerebral cortex development | 16p13.11 |
| NDEL1 | inner cell mass cell proliferation; vesicle transport along microtubule; positive regulation of axon extension; activation of Cdc42 GTPase activity; cell differentiation; central nervous system neuron axonogenesis; cerebral cortex radially oriented cell migration; regulation of neuron projection development; retrograde axon cargo transport; nervous system development; chromosome segregation; transport; neuron migration; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; microtubule cytoskeleton organization; multicellular organismal development; neurofilament cytoskeleton organization; centrosome localization; nuclear envelope disassembly; positive regulation of axon regeneration | 17p13.1 |
| NDFIP1 | regulation of lymphocyte differentiation; regulation of myeloid leukocyte differentiation; negative regulation of protein transport; negative regulation of inflammatory response; regulation of isotype switching to IgG isotypes; negative regulation of isotype switching to IgE isotypes; positive regulation of protein catabolic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of T cell proliferation; 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 | 5q31.3 |
| NDFIP2 | negative regulation of protein transport; negative regulation of transporter activity; positive regulation of protein ubiquitination; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of gene expression; signal transduction | 13q31.1 |
| NDFIP2-AS1 | - | - |
| NDN | neuron migration; respiratory system process; 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; sensory perception of pain; regulation of growth; nerve growth factor receptor signaling pathway; neuron development; axon extension involved in development; multicellular organismal homeostasis; genetic imprinting | 15q11.2-q12 |
| NDNF | neuron migration; nervous system development; positive regulation of cell-substrate adhesion; positive regulation of neuron projection development; cell growth; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; extracellular matrix organization; negative regulation of neuron apoptosis | 4q27 |
| NDOR1 | cell death; oxidation-reduction process | 9q34.3 |
| NDP | vacuole organization; positive regulation of transcription, DNA-dependent; signal transduction; cell-cell signaling; nervous system development; visual perception; sensory perception of sound; cell proliferation; Wnt receptor signaling pathway; extracellular matrix-cell signaling; 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; placenta development | Xp11.4 |
| NDP-AS1 | - | - |
| NDRG1 | DNA damage response, signal transduction by p53 class mediator; peripheral nervous system myelin maintenance; cellular response to hypoxia; mast cell activation; positive regulation of spindle checkpoint; response to metal ion | 8q24.3 |
| NDRG2 | Wnt receptor signaling pathway; cell differentiation; negative regulation of smooth muscle cell proliferation; negative regulation of ERK1 and ERK2 cascade; regulation of platelet-derived growth factor production; multicellular organismal development; regulation of vascular endothelial growth factor production; negative regulation of cytokine production; signal transduction; nervous system development | 14q11.2 |
| NDRG3 | spermatogenesis; cell differentiation; negative regulation of cell growth | 20q11.21-q11.23 |
| NDRG4 | cell differentiation; cell growth; response to stress; multicellular organismal development | 16q21-q22.1 |
| NDST1 | organ morphogenesis; polysaccharide biosynthetic process; protein sulfation; fibroblast growth factor receptor signaling pathway; MAPK cascade; inflammatory response; smoothened signaling pathway; respiratory gaseous exchange; embryo development; heparan sulfate proteoglycan biosynthetic process; embryonic viscerocranium morphogenesis; embryonic neurocranium morphogenesis; midbrain development; forebrain development; glycosaminoglycan metabolic process | 5q33.1 |
| NDST2 | heparan sulfate proteoglycan biosynthetic process; cellular process | 10q22 |
| NDST3 | - | 4q26 |
| NDST4 | - | 4q26 |
| NDUFA1 | respiratory electron transport chain; mitochondrial electron transport, NADH to ubiquinone; small molecule metabolic process; transport | Xq24 |
| NDUFA10 | mitochondrial electron transport, NADH to ubiquinone; nucleobase-containing compound metabolic process; transport; respiratory electron transport chain; response to drug; small molecule metabolic process | 2q37.3 |
| NDUFA11 | transport; respiratory electron transport chain; small molecule metabolic process | 19p13.3 |
| NDUFA12 | transport; response to oxidative stress; small molecule metabolic process; respiratory electron transport chain; respiratory gaseous exchange | 12q22 |
| NDUFA12P1 | - | - |
| NDUFA13 | small molecule metabolic process; negative regulation of transcription, DNA-dependent; reactive oxygen species 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; protein import into nucleus; transport; apoptotic process | 19p13.2 |
| NDUFA2 | transport; respiratory electron transport chain; small molecule metabolic process; mitochondrial electron transport, NADH to ubiquinone | 5q31.2 |
| NDUFA3 | mitochondrial electron transport, NADH to ubiquinone; transport; respiratory electron transport chain; small molecule metabolic process | 19q13.42 |
| NDUFA3P1 | - | 19q13.31 |
| NDUFA3P3 | - | 1q42.12 |
| NDUFA4 | respiratory electron transport chain; small molecule metabolic process; transport; mitochondrial electron transport, NADH to ubiquinone | 7p21.3 |
| NDUFA4L2 | - | 12q13.3 |
| NDUFA5 | mitochondrial electron transport, NADH to ubiquinone; transport; respiratory electron transport chain; small molecule metabolic process | 7q31.33 |
| NDUFA5P12 | - | 8q11.1 |
| NDUFA6 | mitochondrial electron transport, NADH to ubiquinone; transport; response to oxidative stress; respiratory electron transport chain; small molecule metabolic process | 22q13.2 |
| NDUFA6-AS1 | - | 22q13.2 |
| NDUFA7 | small molecule metabolic process; ATP synthesis coupled electron transport; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | 19p13.2 |
| NDUFA8 | small molecule metabolic process; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | 9q33.2 |
| NDUFA9 | transport; mitochondrial electron transport, NADH to ubiquinone; sodium ion transport; respiratory electron transport chain; cellular metabolic process; small molecule metabolic process | 12p13.3 |
| NDUFA9P1 | - | 22q12.3 |
| NDUFAB1 | mitochondrial electron transport, NADH to ubiquinone; fatty acid biosynthetic process; transport; protein lipoylation; respiratory electron transport chain; 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 | mitochondrial electron transport, NADH to ubiquinone; transport; respiratory electron transport chain; small molecule metabolic process | 14q32.12 |
| NDUFB10 | mitochondrial electron transport, NADH to ubiquinone; respiratory electron transport chain; small molecule metabolic process; transport | 16p13.3 |
| NDUFB11 | small molecule metabolic process; respiratory electron transport chain; transport | Xp11.23 |
| NDUFB11P1 | - | 11q14.3 |
| NDUFB2 | transport; respiratory electron transport chain; mitochondrial electron transport, NADH to ubiquinone; small molecule metabolic process | 7q34 |
| NDUFB2-AS1 | - | 7q34 |
| NDUFB3 | mitochondrial electron transport, NADH to ubiquinone; transport; respiratory electron transport chain; small molecule metabolic process | 2q31.3 |
| NDUFB3P3 | - | 14q22.1 |
| NDUFB4 | small molecule metabolic process; respiratory electron transport chain; mitochondrial electron transport, NADH to ubiquinone; transport; response to oxidative stress | 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 | mitochondrial electron transport, NADH to ubiquinone; transport; small molecule metabolic process; respiratory electron transport chain | 9p21.1 |
| NDUFB7 | small molecule metabolic process; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | 19p13.12 |
| NDUFB8 | respiratory electron transport chain; small molecule metabolic process; mitochondrial electron transport, NADH to ubiquinone; transport | 10q24.31 |
| NDUFB8P2 | - | 17q23.1 |
| NDUFB8P3 | - | 11p13 |
| NDUFB9 | sensory perception of sound; respiratory electron transport chain; small molecule metabolic process; mitochondrial electron transport, NADH to ubiquinone; transport | 8q13.3 |
| NDUFC1 | respiratory electron transport chain; small molecule metabolic process; transport; mitochondrial electron transport, NADH to ubiquinone | 4q31.1 |
| NDUFC2 | mitochondrial electron transport, NADH to ubiquinone; transport; respiratory electron transport chain; small molecule metabolic process | 11q14.1 |
| NDUFS1 | reactive oxygen species metabolic process; regulation of mitochondrial membrane potential; ATP metabolic process; respiratory electron transport chain; cellular respiration; ATP synthesis coupled electron transport; small molecule metabolic process; mitochondrial electron transport, NADH to ubiquinone; apoptotic process; transport | 2q33-q34 |
| NDUFS2 | mitochondrial electron transport, NADH to ubiquinone; transport; response to oxidative stress; respiratory electron transport chain; small molecule metabolic process | 1q23 |
| NDUFS3 | respiratory electron transport chain; reactive oxygen species metabolic process; small molecule metabolic process; negative regulation of cell growth; induction of apoptosis; transport; 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; respiratory electron transport chain; cAMP-mediated signaling; brain development; transport; mitochondrial electron transport, NADH to ubiquinone; regulation of protein phosphorylation; mitochondrial respiratory chain complex I assembly | 5q11.1 |
| NDUFS5 | small molecule metabolic process; mitochondrial respiratory chain complex I assembly; respiratory electron transport chain; transport; mitochondrial electron transport, NADH to ubiquinone | 1p34.2-p33 |
| NDUFS5P2 | - | 1p21.3 |
| NDUFS5P5 | - | 4q26 |
| NDUFS5P7 | - | 17q11.2 |
| NDUFS6 | mitochondrial electron transport, NADH to ubiquinone; transport; respiratory electron transport chain; small molecule metabolic process | 5p15.33 |
| NDUFS7 | mitochondrial respiratory chain complex I assembly; transport; mitochondrial electron transport, NADH to ubiquinone; small molecule metabolic process; respiratory electron transport chain | 19p13.3 |
| NDUFS8 | mitochondrial electron transport, NADH to ubiquinone; transport; response to oxidative stress; respiratory electron transport chain; mitochondrial respiratory chain complex I assembly; small molecule metabolic process | 11q13 |
| NDUFV1 | mitochondrial electron transport, NADH to ubiquinone; transport; respiratory electron transport chain; small molecule metabolic process | 11q13 |
| NDUFV2 | transport; nervous system development; respiratory electron transport chain; small molecule metabolic process; cardiac muscle tissue development; mitochondrial electron transport, NADH to ubiquinone | 18p11.22 |
| NDUFV2-AS1 | - | 18p11.22 |
| NDUFV3 | mitochondrial electron transport, NADH to ubiquinone; transport; respiratory electron transport chain; small molecule metabolic process | 21q22.3 |
| NEB | somatic muscle development; muscle organ development; muscle filament sliding; regulation of actin filament length | 2q22 |
| NEBL | cardiac muscle thin filament assembly | 10p12 |
| NECAB1 | - | 8q21.3 |
| NECAB2 | - | 16q23.3 |
| NECAB3 | protein secretion; protein metabolic process; regulation of amyloid precursor protein biosynthetic process | 20q11.22 |
| NECAP1 | protein transport; endocytosis | 12p13.31 |
| NECAP2 | protein transport; endocytosis | 1p36.13 |
| NEDD1 | G2/M transition of mitotic cell cycle; mitotic cell cycle; mitosis; cell division | 12q23.1 |
| NEDD4 | cellular response to UV; interspecies interaction between organisms; receptor internalization; neuron projection development; negative regulation of vascular endothelial growth factor receptor signaling pathway; development involved in symbiotic interaction; glucocorticoid receptor signaling pathway; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein ubiquitination; receptor catabolic process; cytokine-mediated signaling pathway; transmission of virus; 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; progesterone receptor signaling pathway; regulation of dendrite morphogenesis; positive regulation of nucleocytoplasmic transport; positive regu | 15q |
| NEDD4L | protein modification process; protein ubiquitination; sodium ion transport; interspecies interaction between organisms; cellular sodium ion homeostasis; excretion; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; response to metal ion; negative regulation of sodium ion transport; regulation of protein catabolic process; water homeostasis; positive regulation of endocytosis | 18q21 |
| NEDD8 | regulation of transcription from RNA polymerase II promoter; protein modification process; proteolysis; ubiquitin-dependent protein catabolic process; protein localization; anatomical structure morphogenesis; response to organic cyclic compound; protein neddylation | 14q12 |
| NEDD9 | signal transduction; cytoskeleton organization; cell cycle; mitosis; cell adhesion; actin filament bundle assembly; regulation of growth; integrin-mediated signaling pathway; 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 | retrograde axon cargo transport; axon transport of mitochondrion; anterograde axon cargo transport; synaptic transmission; neurofilament bundle assembly; intermediate filament organization | 8p21 |
| NEFM | - | 8p21 |
| NEFMP1 | - | - |
| NEGR1 | cell adhesion | 1p31.1 |
| NEIL1 | base-excision repair; nucleotide-excision repair; response to oxidative stress; negative regulation of nuclease activity | 15q24.2 |
| NEIL2 | base-excision repair; nucleotide-excision repair | 8p23.1 |
| NEIL3 | nucleotide-excision repair; base-excision repair | 4q34.3 |
| NEK1 | cell projection organization; cell division; cell cycle; protein phosphorylation; cilium assembly; mitosis | 4q33 |
| NEK10 | - | 3p24.1 |
| NEK11 | protein phosphorylation; cell cycle; intracellular protein kinase cascade; intra-S DNA damage checkpoint; G2/M transition DNA damage checkpoint | 3q22.1 |
| NEK2 | protein autophosphorylation; 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; 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 | cell division; mitosis; cell cycle; protein phosphorylation | 3p21.1 |
| NEK4P2 | - | - |
| NEK5 | - | 13q14.3 |
| NEK6 | chromosome segregation; signal transduction; mitosis; protein phosphorylation; cytokinesis; cell cycle; regulation of cellular senescence; regulation of mitotic cell cycle; peptidyl-serine phosphorylation; regulation of mitotic metaphase/anaphase transition; G2/M transition DNA damage checkpoint; positive regulation of I-kappaB kinase/NF-kappaB cascade; apoptotic process; protein autophosphorylation; spindle assembly | 9q33.3-q34.11 |
| NEK7 | protein phosphorylation; cytokinesis; regulation of mitotic cell cycle; spindle assembly | 1q31.3 |
| NEK8 | - | 17q11.1 |
| NEK9 | cell division; mitosis; cell cycle | 14q24.3 |
| NELFA | - | 4p16.3 |
| NELFB | - | 9q34 |
| NELFCD | - | 20q13 |
| NELFE | - | 6p21.3 |
| NELL1 | induction of apoptosis; cell adhesion; nervous system development; positive regulation of ossification; regulation of osteoblast differentiation | 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 | positive regulation of neural precursor cell proliferation; G2/M transition of mitotic cell cycle; multicellular organismal development; central nervous system development; brain development; response to ionizing radiation; positive regulation of intermediate filament depolymerization; embryonic camera-type eye development; response to nutrient levels; response to drug; negative regulation of apoptotic process; cell projection morphogenesis; stem cell proliferation | 1q23.1 |
| NET1 | regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; cellular response to hydrogen peroxide; regulation of cell growth; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; signal transduction; apoptotic process; cellular response to ionizing radiation; positive regulation of Rho GTPase activity; positive regulation of apoptotic process; regulation of Rho protein signal transduction | 10p15 |
| NETO1 | visual learning; memory; regulation of long-term neuronal synaptic plasticity | 18q22.2 |
| NETO2 | - | 16q11 |
| NEU1 | small molecule metabolic process; glycosphingolipid metabolic process; sphingolipid metabolic process | 6p21.3 |
| NEU3 | glycosphingolipid metabolic process; ganglioside catabolic process; small molecule metabolic process; sphingolipid metabolic process; carbohydrate metabolic process | 11q13.5 |
| NEU4 | sphingolipid metabolic process; glycosphingolipid metabolic process; small molecule metabolic process | 2q37.3 |
| NEURL1 | sperm motility; sperm axoneme assembly; nervous system development; lactation; response to external stimulus | 10q25.1 |
| NEURL1B | - | 5q35.1 |
| NEURL2 | intracellular signal transduction; sarcomere organization | 20q13.12 |
| NEURL3 | - | 2q11.2 |
| NEURL4 | - | 17p13 |
| NEUROD2 | positive regulation of neuron differentiation; associative learning; 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; positive regulation of synaptic plasticity; behavioral fear response; regulation of transcription from RNA polymerase II promoter; multicellular organismal development; cell differentiation; cerebellar cortex development; protein ubiquitination; nervous system development | 17q12 |
| NEUROG1 | inner ear morphogenesis; regulation of transcription from RNA polymerase II promoter; multicellular organismal development; nervous system development; neurogenesis; positive regulation of exit from mitosis; positive regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of sequence-specific DNA binding transcription factor activity; cell fate commitment | 5q23-q31 |
| NEUROG2 | central nervous system neuron development; 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; axon guidance; multicellular organismal development; neuron migration; regulation of transcription, DNA-dependent | 4q25 |
| NEXN | regulation of cytoskeleton organization; regulation of cell migration | 1p31.1 |
| NEXN-AS1 | - | 1p31.1 |
| NF1 | regulation of glial cell differentiation; negative regulation of cell migration; negative regulation of osteoclast differentiation; regulation of bone resorption; 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; positive regulation of Ras GTPase activity; regulation of synaptic transmission, GABAergic; regulation of Ras GTPase activity; positive regulation of adenylate cyclase activity; regulation of angiogenesis; negative regulation of Ras protein signal transduction; negative regulation of neurotransmitter secretion; negative regulation of fibroblast proliferation; regulation of long-term neuronal synaptic plasticity; sympathetic nervous system development; camera-type eye morphogenesis; negat | 17q11.2 |
| NF1P2 | - | 15q11.2 |
| NF1P6 | - | 22q11.1 |
| NF1P8 | - | 2q21.1 |
| NF2 | cell-cell junction organization; lens fiber cell differentiation; positive regulation of stress fiber assembly; negative regulation of JAK-STAT cascade; negative regulation of MAPK cascade; negative regulation of tyrosine phosphorylation of Stat5 protein; negative regulation of tyrosine phosphorylation of Stat3 protein; odontogenesis of dentin-containing tooth; regulation of hippo signaling cascade; actin cytoskeleton organization; negative regulation of cell migration; mesoderm formation; negative regulation of cell-matrix adhesion; negative regulation of protein kinase activity; ectoderm development; negative regulation of DNA replication; negative regulation of cell proliferation; Schwann cell proliferation; negative regulation of cell-cell adhesion | 22q12.2 |
| NFAM1 | inflammatory response; positive regulation of cytokine production; positive regulation of B cell receptor signaling pathway; regulation of B cell differentiation; intracellular signal transduction; B cell differentiation; cell surface receptor signaling pathway; signal transduction; positive regulation of sequence-specific DNA binding transcription factor activity | 22q13.2 |
| NFASC | protein localization to paranode region of axon; peripheral nervous system development; synapse organization; transmission of nerve impulse; myelination; protein localization to juxtaparanode region of axon; paranodal junction assembly; axon guidance; cell adhesion | 1q32.1 |
| NFAT5 | excretion; signal transduction; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 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 | positive regulation of transcription from RNA polymerase II promoter; B cell receptor signaling pathway; positive regulation of transcription, DNA-dependent; response to drug; response to DNA damage stimulus; cytokine production; regulation of transcription, DNA-dependent; positive regulation of B cell proliferation | 20q13.2 |
| NFATC2IP | cytokine production; regulation of transcription, DNA-dependent | 16p11.2 |
| NFATC3 | heart development; cellular response to lithium ion; muscle cell development; smooth muscle cell differentiation; positive regulation of transcription from RNA polymerase II promoter; cellular respiration; inflammatory response; transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; patterning of blood vessels | 16q22.2 |
| NFATC4 | transcription from RNA polymerase II promoter; inflammatory response; cell differentiation | 14q11.2 |
| NFE2 | blood circulation; negative regulation of bone mineralization; positive regulation of transcription, DNA-dependent; hemostasis; blood coagulation; multicellular organismal development; regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent; nucleosome disassembly; cell-cell signaling | 12q13 |
| NFE2L1 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; heme biosynthetic process; inflammatory response; anatomical structure morphogenesis | 17q21.3 |
| NFE2L2 | endoplasmic reticulum unfolded protein response; positive regulation of reactive oxygen species metabolic process; regulation of removal of superoxide radicals; regulation of embryonic development; positive regulation of transcription from RNA polymerase II promoter; cellular response to oxidative stress; positive regulation of blood coagulation; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 2q31 |
| NFE2L3 | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 7p15.2 |
| NFE2L3P1 | - | 18q21.32 |
| NFE4 | - | 7q22.1 |
| NFIA | DNA replication; regulation of transcription, DNA-dependent; viral genome replication | 1p31.3-p31.2 |
| NFIB | DNA replication; negative regulation of epithelial cell proliferation involved in lung morphogenesis; negative regulation of mesenchymal cell proliferation involved in lung development; 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 DNA binding; hindbrain development; forebrain development; lung development; anterior commissure morphogenesis; principal sensory nucleus of trigeminal nerve development; glial cell differentiation; negative regulation of cell proliferation; transcription from RNA polymerase II promoter; chondrocyte differentiation; negative regulation of transcription from RNA polymerase II promoter | 9p24.1 |
| NFIC | positive regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; DNA replication | 19p13.3 |
| NFIL3 | transcription from RNA polymerase II promoter; immune response; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; circadian rhythm | 9q22 |
| NFIX | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; DNA replication; transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter | 19p13.3 |
| NFKB1 | TRIF-dependent toll-like receptor signaling pathway; innate immune response; apoptotic process; positive regulation of transcription, DNA-dependent; nerve growth factor receptor signaling pathway; T cell 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 cholesterol transport; positive regulation of NF-kappaB transcription factor activity; cellular response to mechanical stimulus; cellular response to interleukin-1; positive regulation of canonical Wnt receptor signaling pathway; membrane protein intracellular domain proteolysis; transcription from RNA polymerase II promoter; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; anti-apoptosis; inflammatory response; signal transduction; negative regulation of transcription from RNA polymerase II promoter; Tol | 4q24 |
| NFKB2 | toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; follicular dendritic cell differentiation; germinal center formation; MyD88-independent toll-like receptor signaling pathway; innate immune response; spleen development; positive regulation of NF-kappaB transcription factor activity; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; extracellular matrix organization; toll-like receptor 1 signaling pathway; regulation of transcription, DNA-dependent; signal transduction; Toll signaling pathway | 10q24 |
| NFKBIA | toll-like receptor 2 signaling pathway; regulation of NF-kappaB import into nucleus; protein import into nucleus, translocation; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; regulation of cell proliferation; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; apoptotic process; anti-apoptosis; cytoplasmic sequestering of NF-kappaB; Toll signaling pathway; negative regulation of macrophage derived foam cell differentiation; positive regulation of cholesterol efflux; negative regulation of lipid storage; lipopolysaccharide-mediated signaling pathway; negative regulation of NF-kappaB transcription factor activity; positive regulation of cellular protein metabolic process; response to muramyl dipeptide; response to lipopolysaccharide; toll-like receptor 1 signaling pathway; positive regulation of transcription from RNA polymerase II | 14q13 |
| NFKBIB | positive regulation of NF-kappaB transcription factor activity; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; transcription, DNA-dependent; signal transduction; cytoplasmic sequestering of NF-kappaB; 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; toll-like receptor 2 signaling pathway | 19q13.1 |
| NFKBID | 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; positive regulation of thymocyte apoptosis | 19q13.12 |
| NFKBIE | D-serine transport; cytoplasmic sequestering of transcription factor | 6p21.1 |
| NFKBIL1 | cytoplasmic sequestering of transcription factor | 6p21.3 |
| NFKBIZ | regulation of transcription, DNA-dependent; inflammatory response | 3p12-q12 |
| NFRKB | DNA repair; DNA recombination; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; inflammatory response | 11q24-q25 |
| NFS1 | iron incorporation into metallo-sulfur cluster; small molecule metabolic process; molybdopterin cofactor biosynthetic process; water-soluble vitamin metabolic process; sulfur amino acid metabolic process; protein complex assembly; cysteine metabolic process; vitamin metabolic process; Mo-molybdopterin cofactor biosynthetic process | 20q11.22 |
| NFU1 | iron-sulfur cluster assembly | 2p15-p13 |
| NFX1 | inflammatory response; transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; interspecies interaction between organisms; negative regulation of MHC class II biosynthetic process | 9p13.3 |
| NFXL1 | - | 4p12 |
| NFYA | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter | 6p21.3 |
| NFYAP1 | - | 13q21.31 |
| NFYB | regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 12q22-q23 |
| NFYC | positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; protein folding | 1p32 |
| NFYC-AS1 | - | 1p34.2 |
| NGDN | regulation of translation | 14q11.2 |
| NGEF | regulation of small GTPase mediated signal transduction; regulation of Rho protein signal transduction; cell differentiation; cellular process; apoptotic process; small GTPase mediated signal transduction; regulation of GTPase activity; nerve growth factor receptor signaling pathway; ephrin receptor signaling pathway; multicellular organismal development; nervous system development; negative regulation of dendritic spine morphogenesis; induction of apoptosis by extracellular signals | 2q37 |
| NGF | response to peptide hormone stimulus; response to mechanical stimulus; positive regulation of gene expression; sensory perception of pain; neuron projection development; positive regulation of protein autophosphorylation; nerve growth factor processing; response to lipopolysaccharide; response to nicotine; response to drug; regulation of axonogenesis; negative regulation of neuron apoptosis; regulation of neuron differentiation; response to electrical stimulus; positive regulation of axon extension; negative regulation of cell cycle; regulation of neurotransmitter secretion; nerve growth factor receptor signaling pathway; positive regulation of nerve growth factor receptor signaling pathway; response to glucocorticoid stimulus; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of axonogenesis; phosphatidylinositol-mediated signaling; activation of MAPKK activity; response to radiation; induction of apoptosis by extracellular signals; adult locomotory behav | 1p13.1 |
| NGFR | nerve growth factor receptor signaling pathway; apoptotic process; anti-apoptosis; multicellular organismal development; axon guidance; central nervous system development; induction of apoptosis by extracellular signals; response to wounding; regulation of gene expression; detection of temperature stimulus; nerve development; cell differentiation; hair follicle morphogenesis; membrane protein intracellular domain proteolysis; negative regulation of fibroblast growth factor receptor signaling pathway; negative regulation of axonogenesis; positive regulation of axonogenesis; negative regulation of hair follicle development; regulation of axonogenesis; negative regulation of muscle organ development; positive regulation of odontogenesis of dentin-containing tooth; skin development; negative regulation of cell cycle; positive regulation of fibroblast proliferation | 17q21-q22 |
| NGFRAP1 | multicellular organismal development; regulation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; nerve growth factor receptor signaling pathway; induction of apoptosis via death domain receptors; induction of apoptosis by extracellular signals | Xq22.2 |
| NGLY1 | glycoprotein catabolic process | 3p24.2 |
| NGRN | multicellular organismal development; nervous system development; neuron differentiation | 15q26.1 |
| NHEG1 | - | 6q23 |
| NHEJ1 | positive regulation of ligase activity; T cell differentiation; B cell differentiation; response to ionizing radiation; central nervous system development; DNA recombination; double-strand break repair via nonhomologous end joining | 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 | lens development in camera-type eye; cell differentiation | Xp22.13 |
| NHSL1 | - | 6q23.3 |
| NHSL2 | - | Xq13.1 |
| NICN1 | - | 3p21.31 |
| NID1 | cell adhesion; positive regulation of cell-substrate adhesion; cell-matrix adhesion; glomerular basement membrane development | 1q43 |
| NID2 | cell-matrix adhesion; cell adhesion | 14q22.1 |
| NIF3L1 | positive regulation of transcription, DNA-dependent | 2q33 |
| NIFK | protein complex assembly; rRNA transcription; negative regulation of phosphatase activity; rRNA metabolic process | 2q14.3 |
| NIFK-AS1 | - | 2q14.2 |
| NIM1K | - | 5p12 |
| NIN | centrosome-templated microtubule nucleation; centrosome localization; microtubule anchoring at centrosome | 14q22.1 |
| NINJ1 | tissue regeneration; nervous system development; cell adhesion | 9q22 |
| NINJ2 | tissue regeneration; nervous system development; neuron cell-cell adhesion; cell adhesion | 12p13 |
| NINL | G2/M transition of mitotic cell cycle; 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 | ion transport; magnesium ion transport | 5q33.3 |
| NIPBL | positive regulation of multicellular organism growth; cellular protein localization; maintenance of mitotic sister chromatid cohesion; arm morphogenesis; ear morphogenesis; regulation of hair cycle; fat cell differentiation; positive regulation of ossification; negative regulation of transcription, DNA-dependent; embryonic arm morphogenesis; heart morphogenesis; external genitalia morphogenesis; eye morphogenesis; gall bladder development; uterus morphogenesis; face morphogenesis; cognition; embryonic viscerocranium morphogenesis; cellular response to X-ray; regulation of developmental growth; embryonic digestive tract morphogenesis; response to DNA damage stimulus; outflow tract morphogenesis; cell cycle; mitotic sister chromatid cohesion; brain development; sensory perception of sound; regulation of embryonic development; developmental growth; positive regulation of histone deacetylation; negative regulation of transcription from RNA polymerase II promoter; metanephros development | 5p13.2 |
| NIPBL-AS1 | - | 5p13.2 |
| NIPSNAP1 | - | 22q12.2 |
| NIPSNAP3A | - | 9q31.1 |
| NIPSNAP3B | - | 9q31.1 |
| NISCH | actin cytoskeleton organization; apoptotic process; negative regulation of cell migration; cell communication; regulation of synaptic transmission, GABAergic; norepinephrine secretion; Rac protein signal transduction; glucose metabolic process; regulation of blood pressure | 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; positive regulation of alpha-beta T cell differentiation; negative regulation of transcription, DNA-dependent | Xq24 |
| NKAPP1 | - | Xq24 |
| NKD1 | Wnt receptor signaling pathway | 16q12.1 |
| NKD2 | exocytosis; Wnt receptor signaling pathway; transport | 5p15.3 |
| NKG7 | - | 19q13.41 |
| NKIRAS1 | small GTPase mediated signal transduction; I-kappaB kinase/NF-kappaB cascade; GTP catabolic process; signal transduction | 3p24.2 |
| NKIRAS2 | GTP catabolic process; signal transduction; I-kappaB kinase/NF-kappaB cascade; small GTPase mediated signal transduction | 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 | oligodendrocyte differentiation; hyperosmotic salinity response; cerebral cortex GABAergic interneuron differentiation; pituitary gland development; lung development; negative regulation of cell migration; negative regulation of transforming growth factor beta receptor signaling pathway; thyroid gland development; forebrain development; developmental induction; response to lipopolysaccharide; Leydig cell differentiation; forebrain neuron fate commitment; menarche; response to ethanol; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; development of primary female sexual characteristics; anatomical structure formation involved in morphogenesis; Type II pneumocyte differentiation; lung saccule development; epithelial tube branching involved in lung morphogenesis; Clara cell differentiation; forebrain dorsal/ventral pattern formation; negative regulation of transcription from RNA polymerase II promoter; neuron migration; regulation of blood | 14q13 |
| NKX2-1-AS1 | - | - |
| NKX2-2 | neuron fate specification; astrocyte differentiation; type B pancreatic cell development; positive regulation of oligodendrocyte differentiation; positive regulation of sequence-specific DNA binding transcription factor activity; ventral spinal cord interneuron fate determination; positive regulation of transcription from RNA polymerase II promoter; brain development; nervous system development; multicellular organismal development; smoothened signaling pathway; pancreatic PP cell fate commitment; type B pancreatic cell fate commitment; pancreatic A cell fate commitment; digestive tract development; positive regulation of neuron differentiation; negative regulation of neuron differentiation; endocrine pancreas development; spinal cord oligodendrocyte cell fate specification; oligodendrocyte development; spinal cord motor neuron differentiation | 20p11.22 |
| NKX2-3 | gland morphogenesis; spleen development; B cell differentiation; macrophage differentiation; triglyceride metabolic process; regulation of cell proliferation; immune response; odontogenesis of dentin-containing tooth; CD4-positive, alpha-beta T cell differentiation; positive regulation of transcription from RNA polymerase II promoter; post-embryonic development; lymph node development; leukocyte homeostasis; leukocyte migration; post-embryonic digestive tract morphogenesis; digestive tract development; Peyer's patch development; plasma cell differentiation | 10q24.2 |
| NKX2-4 | multicellular organismal development | 20p11.22 |
| NKX2-5 | embryonic heart tube left/right pattern formation; ventricular cardiac myofibril development; cardiac muscle cell differentiation; cardiac muscle tissue morphogenesis; atrial cardiac muscle cell development; ventricular cardiac muscle cell development; regulation of cardiac muscle contraction; pharyngeal system development; regulation of cardiac muscle cell proliferation; positive regulation of transcription initiation from RNA polymerase II promoter; heart trabecula formation; ventricular septum morphogenesis; atrial septum morphogenesis; atrioventricular node cell development; atrioventricular node cell fate commitment; positive regulation of calcium ion transport via voltage-gated calcium channel activity; negative regulation of canonical Wnt receptor signaling pathway; apoptosis involved in heart morphogenesis; ventricular trabecula myocardium morphogenesis; right ventricular cardiac muscle tissue morphogenesis; cardiac ventricle formation; cardiac Purkinje fiber cell differentiation; negative regulation | 5q34 |
| NKX2-8 | transcription, DNA-dependent; multicellular organismal development; axonogenesis; lung development; transcription from RNA polymerase II promoter; negative regulation of epithelial cell proliferation; regulation of transcription, DNA-dependent; liver development | 14q13.3 |
| NKX3-1 | activation of cysteine-type endopeptidase activity involved in apoptotic process; cellular response to hypoxia; mitotic cell cycle arrest; negative regulation of estrogen receptor binding; positive regulation of induction of apoptosis in response to chemical stimulus; positive regulation of androgen secretion; positive regulation of response to DNA damage stimulus; somitogenesis; positive regulation of protein phosphorylation; regulation of transcription, DNA-dependent; positive regulation of gene expression; activation of pro-apoptotic gene products; negative regulation of cell proliferation; positive regulation of cell proliferation; heart development; salivary gland development; multicellular organismal development; negative regulation of mitotic cell cycle; negative regulation of gene expression; positive regulation of cell death; positive regulation of phosphatidylinositol 3-kinase cascade; androgen receptor signaling pathway; response to testosterone stimulus; cellular response to drug; positive regulat | 8p21.2 |
| NKX3-2 | determination of left/right symmetry; embryonic skeletal system development; skeletal system morphogenesis; organ formation; spleen development; negative regulation of apoptotic process; middle ear morphogenesis; negative regulation of chondrocyte differentiation; pancreas development; transcription from RNA polymerase II promoter; skeletal system development; digestive system development; intestinal epithelial cell development | 4p16.3 |
| NKX6-1 | multicellular organismal development; response to nicotine; positive regulation of type B pancreatic cell development; smoothened signaling pathway; negative regulation of transcription from RNA polymerase II promoter; cell proliferation; organ morphogenesis; 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; neurogenesis; pancreas development; endocrine pancreas development; positive regulation of insulin secretion; response to drug; positive regulation of neuron differentiation; negative regulation of glial cell differentiation; positive regulation of glial cell differentiation; positive regulation of transcription from RNA polymerase II promoter; oligodendrocyte differentiation; positive regulation of sequence-specific DNA binding transcription factor activity; detection of glucose; cellular response to cytokine stimulus; ce | 4q21.33 |
| NKX6-2 | positive regulation of cell fate commitment; negative regulation of cell fate commitment; regulation of transcription, DNA-dependent; positive regulation of glial cell differentiation; multicellular organismal development; neuromuscular process controlling balance; oligodendrocyte differentiation; cell differentiation; negative regulation of glial cell differentiation; endocrine pancreas development; negative regulation of transcription from RNA polymerase II promoter; 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 | 10q26 |
| NKX6-3 | - | 8p11.21 |
| NLE1 | Notch signaling pathway; inner cell mass cell differentiation | 17q12 |
| NLGN1 | protein targeting; regulation of neuron differentiation; regulation of N-methyl-D-aspartate selective glutamate receptor activity; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; cell adhesion; establishment of protein localization; neuronal signal transduction; calcium-dependent cell-cell adhesion; synaptic vesicle targeting; positive regulation of intracellular protein kinase cascade; synapse assembly; positive regulation of excitatory postsynaptic membrane potential; nervous system development; neuron cell-cell adhesion; heterophilic cell-cell adhesion; regulation of synaptic transmission; protein homooligomerization; protein heterotetramerization; positive regulation of synapse assembly; receptor localization to synapse; postsynaptic density protein 95 clustering; positive regulation of synaptic transmission, glutamatergic; positive regulation of dendritic spine development; synaptic vesicle clustering; regulation of respiratory gaseous exchange b | 3q26.31 |
| NLGN1-AS1 | - | - |
| NLGN2 | regulation of synaptic transmission; cell-cell junction maintenance; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; postsynaptic density protein 95 clustering; positive regulation of inhibitory postsynaptic membrane potential; protein localization to synapse; positive regulation of excitatory postsynaptic membrane potential; locomotory exploration behavior; neuromuscular process controlling balance; positive regulation of synaptic transmission, GABAergic; sensory perception of pain; cell-cell adhesion; synapse assembly; neuron cell-cell adhesion; regulation of respiratory gaseous exchange by neurological system process; positive regulation of synaptic transmission, glutamatergic; postsynaptic membrane assembly; presynaptic membrane assembly; gephyrin clustering; terminal button organization; positive regulation of synapse assembly | 17p13.1 |
| NLGN3 | social behavior; axon extension; visual learning; receptor-mediated endocytosis; synapse assembly; synapse organization; positive regulation of synapse assembly; rhythmic synaptic transmission; regulation of inhibitory postsynaptic membrane potential; presynaptic membrane assembly; regulation of respiratory gaseous exchange by neurological system process; neuron cell-cell adhesion; cell adhesion | Xq13.1 |
| NLGN4X | positive regulation of organ growth; synapse organization; vocalization behavior; brainstem development; social behavior; cell adhesion; presynaptic membrane assembly; negative regulation of excitatory postsynaptic membrane potential; cerebellum development; cell-cell junction organization | Xp22.33 |
| NLGN4Y | cell adhesion; synapse assembly | Yq11.221 |
| NLK | protein phosphorylation; protein autophosphorylation; transforming growth factor beta receptor signaling pathway; intracellular protein kinase cascade; peptidyl-threonine phosphorylation; MAPK cascade; regulation of transcription, DNA-dependent; negative regulation of Wnt receptor signaling pathway; serine phosphorylation of STAT3 protein | 17q11.2 |
| NLN | proteolysis | 5q12.3 |
| NLRC3 | T cell activation; I-kappaB kinase/NF-kappaB cascade; negative regulation of NF-kappaB transcription factor activity | 16p13.3 |
| NLRC4 | inflammatory response; detection of bacterium; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; defense response to bacterium; activation of cysteine-type endopeptidase activity involved in apoptotic process; interleukin-1 beta secretion; positive regulation of apoptotic process; regulation of cysteine-type endopeptidase activity involved in apoptotic process; innate immune response | 2p22-p21 |
| NLRC5 | negative regulation of type I interferon production; defense response to virus; positive regulation of interferon-gamma-mediated signaling pathway; negative regulation of NF-kappaB transcription factor activity; positive regulation of MHC class I biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; innate immune response; negative regulation of type I interferon-mediated signaling pathway; positive regulation of type I interferon-mediated signaling pathway; regulation of kinase activity | 16q13 |
| NLRP1 | induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of interleukin-1 beta secretion; regulation of inflammatory response; neuron apoptosis; defense response to bacterium; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; regulation of apoptotic process; response to muramyl dipeptide; innate immune response | 17p13.2 |
| NLRP10 | - | 11p15.4 |
| NLRP11 | oxidation-reduction process | 19q13.43 |
| NLRP12 | regulation of interleukin-18 biosynthetic process; negative regulation of protein autophosphorylation; positive regulation of inflammatory response; negative regulation of I-kappaB kinase/NF-kappaB cascade; release of cytoplasmic sequestered NF-kappaB; negative regulation of signal transduction; negative regulation of interleukin-1 secretion; negative regulation of interleukin-6 biosynthetic process; negative regulation of Toll signaling pathway; negative regulation of cytokine secretion; signal transduction; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of interleukin-1 beta secretion | 19q13.42 |
| NLRP13 | - | 19q13.43 |
| NLRP14 | cell differentiation; multicellular organismal development; spermatogenesis | 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 | negative regulation of NF-kappaB transcription factor activity; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; innate immune response; interleukin-1 secretion; positive regulation of interleukin-1 beta secretion; protein oligomerization; defense response to virus; defense response; interleukin-18 production; negative regulation of NF-kappaB import into nucleus; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; inflammatory response; signal transduction; detection of biotic stimulus | 1q44 |
| NLRP4 | - | 19q13.43 |
| NLRP5 | - | 19q13.43 |
| NLRP6 | regulation of inflammatory response | 11p15 |
| NLRP7 | - | 19q13.42 |
| NLRP8 | - | 19q13.43 |
| NLRP9 | - | 19q13.42 |
| NLRX1 | negative regulation of type I interferon production; interspecies interaction between organisms; innate immune response | 11q23.3 |
| NMB | signal transduction; cell-cell signaling; 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 | nervous system development; 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; nucleotide metabolic process; negative regulation of cell proliferation; lactation; endocytosis; CTP biosynthetic process; UTP biosynthetic process; GTP biosynthetic process; nucleoside diphosphate phosphorylation; negative regulation of myeloid leukocyte differentiation; nucleobase-containing small molecule interconversion | 17q21.3 |
| NME1-NME2 | GTP biosynthetic process; UTP biosynthetic process; CTP biosynthetic process | 17q21.3 |
| NME2P1 | UTP biosynthetic process; nucleotide metabolic process; GTP biosynthetic process; CTP biosynthetic process | 12q24.31 |
| NME3 | nucleotide metabolic process; GTP biosynthetic process; UTP biosynthetic process; CTP biosynthetic process; apoptotic process; induction of apoptosis | 16q13.3 |
| NME4 | nucleotide metabolic process; nucleobase-containing small molecule interconversion; small molecule metabolic process; UTP biosynthetic process; nucleoside metabolic process; CTP biosynthetic process; nucleobase-containing small molecule metabolic process; GTP biosynthetic process; nucleoside diphosphate phosphorylation | 16p13.3 |
| NME5 | nucleoside diphosphate phosphorylation; GTP biosynthetic process; UTP biosynthetic process; CTP biosynthetic process; anti-apoptosis; multicellular organismal development; spermatogenesis; spermatid development; nucleoside metabolic process | 5q31 |
| NME6 | UTP biosynthetic process; CTP biosynthetic process; GTP biosynthetic process; nucleoside diphosphate phosphorylation; apoptotic process; nucleotide metabolic process; nucleoside triphosphate biosynthetic process; negative regulation of cell growth; negative regulation of mitosis; anti-apoptosis | 3p21 |
| NME7 | nucleotide metabolic process; CTP biosynthetic process; GTP biosynthetic process; UTP biosynthetic process | 1q24 |
| NME8 | - | 7p14.1 |
| NME9 | UTP biosynthetic process; CTP biosynthetic process; GTP biosynthetic process; cell redox homeostasis | 3q22.3 |
| NMI | JAK-STAT cascade; inflammatory response; transcription from RNA polymerase II promoter | 2q23 |
| NMNAT1 | vitamin metabolic process; small molecule metabolic process; neuroprotection; NAD metabolic process; pyridine nucleotide biosynthetic process; NAD biosynthetic process; biosynthetic process; water-soluble vitamin metabolic process | 1p36.22 |
| NMNAT2 | NAD metabolic process; NAD biosynthetic process; biosynthetic process; pyridine nucleotide biosynthetic process; small molecule metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process | 1q25 |
| NMNAT3 | small molecule metabolic process; NAD biosynthetic process; biosynthetic process; water-soluble vitamin metabolic process; vitamin metabolic process; pyridine nucleotide biosynthetic process; NAD metabolic process; neuroprotection | 3q23 |
| NMNATP | - | 14q31.1 |
| NMRAL1 | - | 16p13.3 |
| NMRK1 | pyridine nucleotide biosynthetic process | 9q21.13 |
| NMRK2 | - | 19p13.3 |
| NMS | regulation of smooth muscle contraction; locomotor rhythm; neuropeptide signaling pathway | 2q11.2 |
| NMT1 | N-terminal protein myristoylation; N-terminal protein lipidation; in utero embryonic development; apoptotic process; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; protein lipoylation; viral reproduction | 17q21.31 |
| NMT2 | protein lipoylation; viral reproduction; egress of virus within host cell; N-terminal protein myristoylation | 10p13 |
| NMU | regulation of smooth muscle contraction; positive regulation of synaptic transmission; positive regulation of hormone secretion; positive regulation of smooth muscle contraction; eating behavior; sensory perception of pain; photoperiodism; digestion; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; signal transduction; gastric acid secretion; response to stress | 4q12 |
| NMUR1 | smooth muscle contraction; G-protein coupled receptor signaling pathway; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; chloride transport; calcium ion transport; activation of phospholipase C activity; neuropeptide signaling pathway; calcium-mediated signaling; inositol phosphate-mediated signaling | 2q37.1 |
| NMUR2 | regulation of smooth muscle contraction; arachidonic acid secretion; feeding behavior; grooming behavior; central nervous system development; synaptic transmission; cell-cell signaling; neuropeptide 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; reduction of food intake in response to dietary excess; calcium ion transport; response to pain; activation of phospholipase A2 activity by calcium-mediated signaling; calcium-mediated signaling; inositol phosphate-mediated signaling | 5q33.1 |
| NNMT | xenobiotic metabolic process; methylation; small molecule metabolic process | 11q23.1 |
| NNT | oxidation-reduction process; small molecule metabolic process; proton transport; tricarboxylic acid cycle | 5p12 |
| NNT-AS1 | - | - |
| NOA1 | regulation of cell death; mitochondrial translation; regulation of cellular respiration; apoptotic process | 4q12 |
| NOB1 | - | 16q22.3 |
| NOBOX | oogenesis; ovarian follicle development; multicellular organismal development; cell differentiation; positive regulation of transcription from RNA polymerase II promoter | 7q35 |
| NOC2L | negative regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process; negative regulation of histone acetylation; cellular response to UV; regulation of transcription, DNA-dependent; negative regulation of B cell apoptosis; nucleolus to nucleoplasm transport | 1p36.33 |
| NOC3L | fat cell differentiation | 10q23.33 |
| NOC4L | rRNA processing | 12q24.33 |
| NOCT | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; rhythmic process | 4q31.1 |
| NOD1 | activation of MAPK activity; toll-like receptor signaling pathway; positive regulation of dendritic cell antigen processing and presentation; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; defense response; intracellular signal transduction; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; defense response to bacterium; positive regulation of JNK cascade; interleukin-8 biosynthetic process; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; apoptotic process; TRIF-dependent toll-like receptor signaling pathway; defense response to Gram-positive bacterium; positive regulation of NF-kappaB transcription factor activity; protein oligomerization; stress-activated MAPK cascade; positive regulation of ERK1 and ERK2 cascade; nucleotide-binding oligomerization domain containing signaling pathway; MyD88-dependent toll-like receptor signaling pathw | 7p15-p14 |
| NOD2 | detection of muramyl dipeptide; response to muramyl dipeptide; positive regulation of dendritic cell antigen processing and presentation; MyD88-dependent toll-like receptor signaling pathway; positive regulation of interleukin-1 beta secretion; MyD88-independent toll-like receptor signaling pathway; regulation of inflammatory response; positive regulation of B cell activation; positive regulation of type 2 immune response; defense response; positive regulation of NF-kappaB transcription factor activity; protein oligomerization; positive regulation of oxidoreductase activity; stress-activated MAPK cascade; positive regulation of nitric-oxide synthase biosynthetic process; positive regulation of prostaglandin-endoperoxide synthase activity; positive regulation of ERK1 and ERK2 cascade; nucleotide-binding oligomerization domain containing signaling pathway; detection of biotic stimulus; nucleotide-binding oligomerization domain containing 2 signaling pathway; negative regulation of macrophage apoptosis; positive | 16q21 |
| NODAL | brain development; nervous system development; cell migration involved in gastrulation; determination of left/right symmetry; multicellular organismal development; inhibition of neuroepithelial cell differentiation; heart looping; vasculature development; positive regulation of transcription from RNA polymerase II promoter; digestive tract morphogenesis; tissue morphogenesis; formation of anatomical boundary; digestive system development; embryonic process involved in female pregnancy; SMAD protein signal transduction; left lung morphogenesis; epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification; transforming growth factor beta receptor signaling pathway involved in primitive streak formation; mesendoderm development; axial mesodermal cell fate specification; positive regulation of cell proliferation; cell fate commitment; embryonic cranial skeleton morphogenesis; growth; embryonic heart tube development; floor plate morphogenesis; lung development; stem cell | 10q22.1 |
| NOG | negative regulation of cytokine activity; anatomical structure formation involved in morphogenesis; face morphogenesis; lung morphogenesis; nervous system development; middle ear morphogenesis; embryonic digit morphogenesis; negative regulation of apoptotic process; regulation of neuron differentiation; negative regulation of osteoblast differentiation; positive regulation of transcription from RNA polymerase II promoter; axial mesoderm development; notochord morphogenesis; motor axon guidance; embryonic skeletal system development; negative regulation of astrocyte differentiation; mesenchymal cell differentiation; positive regulation of epithelial cell proliferation; negative regulation of cardiac muscle cell proliferation; 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; pattern specification process; me | 17q22 |
| NOL10 | - | 2p25.1 |
| NOL11 | - | 17q24.2 |
| NOL12 | - | 22q13.1 |
| NOL3 | mRNA processing; regulation of apoptotic process; anti-apoptosis; RNA splicing | 16q22.1 |
| NOL4 | - | 18q12 |
| NOL4L | - | 20q11.21 |
| NOL6 | rRNA processing | 9p13.3 |
| NOL7 | - | 6p23 |
| NOL8 | rRNA processing; positive regulation of cell growth; DNA replication | 9q22.31 |
| NOL9 | maturation of 5.8S rRNA | 1p36.31 |
| NOLC1 | positive regulation of transcription, DNA-dependent; regulation of protein import into nucleus; box H/ACA snoRNA metabolic process; positive regulation of cell proliferation; mitosis; cell cycle; nucleolus organization; response to osmotic stress; rRNA processing | 10q24.32 |
| NOM1 | RNA metabolic process | 7q36.3 |
| NOMO3 | - | 16p13 |
| NONO | DNA recombination; RNA splicing; mRNA processing; regulation of transcription, DNA-dependent; DNA repair | Xq13.1 |
| NONOP1 | - | 16q22.1 |
| NOP10 | rRNA processing; pseudouridine synthesis | 15q14-q15 |
| NOP14 | 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); maturation of SSU-rRNA from 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); ribosomal small subunit biogenesis; rRNA processing | 4p16.3 |
| NOP14-AS1 | - | 4p16.3 |
| NOP16 | - | 5q35.2 |
| NOP2 | positive regulation of cell proliferation; rRNA processing | 12p13 |
| NOP56 | cell death; rRNA processing | 20p13 |
| NOP56P1 | - | 6p22.1 |
| NOP58 | cell growth; rRNA processing; snRNP protein import into nucleus | 2q33.1 |
| NOP9 | - | 14q12 |
| NOS1 | blood coagulation; myoblast fusion; response to heat; striated muscle contraction; nitric oxide biosynthetic process; arginine catabolic process; regulation of sodium ion transport; response to hypoxia; regulation of cardiac muscle contraction; positive regulation of histone acetylation; cellular response to growth factor stimulus; negative regulation of calcium ion transport; negative regulation of serotonin uptake; negative regulation of hydrolase activity; positive regulation of vasodilation; positive regulation of transcription, DNA-dependent; negative regulation of potassium ion transport; exogenous drug catabolic process; neurotransmitter biosynthetic process; multicellular organismal response to stress; peptidyl-cysteine S-nitrosylation; negative regulation of calcium ion transport into cytosol | 12q24.2-q24.31 |
| NOS1AP | regulation of nitric-oxide synthase activity; regulation of nitric oxide biosynthetic process; regulation of apoptotic process | 1q23.3 |
| NOS2 | positive regulation of leukocyte mediated cytotoxicity; cellular response to lipopolysaccharide; cellular response to interferon-gamma; defense response to Gram-negative bacterium; regulation of insulin secretion; regulation of cellular respiration; defense response to bacterium; negative regulation of protein catabolic process; response to hypoxia; innate immune response in mucosa; arginine catabolic process; superoxide metabolic process; nitric oxide biosynthetic process; regulation of cell proliferation; positive regulation of killing of cells of other organism; peptidyl-cysteine S-nitrosylation; blood coagulation | 17q11.2-q12 |
| NOS2P1 | - | 17q11.2 |
| NOS2P3 | - | 17p11.2 |
| NOS3 | smooth muscle hyperplasia; positive regulation of apoptotic process; response to lead ion; negative regulation of platelet activation; response to organic cyclic compound; negative regulation of muscle hyperplasia; negative regulation of calcium ion transport; lung development; positive regulation of guanylate cyclase activity; lipopolysaccharide-mediated signaling pathway; response to estradiol stimulus; response to lipopolysaccharide; response to cytokine stimulus; response to fluid shear stress; response to drug; response to mechanical stimulus; response to amino acid stimulus; negative regulation of potassium ion transport; response to peptide hormone stimulus; endothelial cell migration; small molecule metabolic process; response to ethanol; positive regulation of angiogenesis; positive regulation of vasodilation; nitric oxide metabolic process; negative regulation of smooth muscle cell proliferation; regulation of blood vessel size; regulation of nitric-oxide synthase activity; negative regulation of hy | 7q36 |
| NOSIP | small molecule metabolic process; nitric oxide metabolic process; regulation of nitric-oxide synthase activity; negative regulation of nitric-oxide synthase activity; negative regulation of catalytic activity | 19q13.33 |
| NOSTRIN | regulation of nitric-oxide synthase activity; nitric oxide metabolic process; small molecule metabolic process; endocytosis | 2q31.1 |
| NOTCH1 | negative regulation of cell-substrate adhesion; negative regulation of myoblast differentiation; positive regulation of keratinocyte differentiation; positive regulation of endothelial cell differentiation; negative regulation of osteoblast differentiation; positive regulation of apoptotic process; anagen; tissue regeneration; embryonic hindlimb morphogenesis; response to lipopolysaccharide; response to corticosteroid stimulus; organ regeneration; hair follicle morphogenesis; forebrain development; negative regulation of BMP signaling pathway; positive regulation of BMP signaling pathway; lung development; neural tube development; cell differentiation in spinal cord; regulation of somitogenesis; sprouting angiogenesis; positive regulation of epithelial cell proliferation; neuronal stem cell maintenance; negative regulation of canonical Wnt receptor signaling pathway; regulation of epithelial cell proliferation involved in prostate gland development; prostate gland epithelium morphogenesis; negative regulation | 9q34.3 |
| NOTCH2 | nervous system development; negative regulation of cell proliferation; multicellular organismal development; Notch receptor processing; Notch signaling pathway; cell cycle arrest; induction of apoptosis; anti-apoptosis; regulation of transcription, DNA-dependent; cell fate determination; organ morphogenesis; gene expression; cell growth; stem cell maintenance; hemopoiesis; cell differentiation; tissue regeneration; positive regulation of Ras protein signal transduction; bone remodeling; regulation of developmental process | 1p13-p11 |
| NOTCH2NL | Notch signaling pathway; multicellular organismal development; cell differentiation | 1q21.2 |
| NOTCH3 | regulation of transcription, DNA-dependent; Notch signaling pathway; Notch receptor processing; multicellular organismal development; gene expression; forebrain development; tissue regeneration; negative regulation of neuron differentiation; positive regulation of smooth muscle cell proliferation; neuron fate commitment; regulation of developmental process; glomerular capillary formation | 19p13.2-p13.1 |
| NOTCH4 | patterning of blood vessels; cell fate determination; gene expression; morphogenesis of a branching structure; endothelial cell morphogenesis; 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; Notch signaling pathway; Notch receptor processing; multicellular organismal development; embryo development | 6p21.3 |
| NOTUM | - | 17q25.3 |
| NOV | regulation of cell growth | 8q24.1 |
| NOVA1 | synaptic transmission; RNA processing; RNA splicing; locomotory behavior | 14q |
| NOVA1-AS1 | - | 14q12 |
| NOVA2 | - | 19q13.3 |
| NOX1 | respiratory burst; intracellular pH elevation; oxidation-reduction process; positive regulation of smooth muscle cell proliferation; hydrogen peroxide metabolic process; response to stress; inflammatory response; ion transport; superoxide metabolic process; FADH2 metabolic process; NADP metabolic process; angiogenesis; signal transduction; regulation of blood pressure; positive regulation of cell proliferation; positive regulation of integrin biosynthetic process; superoxide anion generation; electron transport chain; cell migration; proton transport; response to pH; positive regulation vascular endothelial growth factor production | Xq22 |
| NOX3 | temperature homeostasis; detection of gravity; superoxide anion generation; otolith development | 6q25.3 |
| NOX4 | reactive oxygen species metabolic process; inflammatory response; cell aging; negative regulation of cell proliferation; superoxide anion generation; homocysteine metabolic process; oxidation-reduction process; cell morphogenesis | 11q14.2-q21 |
| NOX5 | cytokinesis; angiogenesis; endothelial cell proliferation; ion transport; induction of apoptosis; cell proliferation; regulation of proton transport; proton transport; electron transport chain; 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 | 15q23 |
| NOXA1 | positive regulation of catalytic activity; regulation of respiratory burst; regulation of hydrogen peroxide metabolic process; superoxide metabolic process | 9q34.3 |
| NOXO1 | superoxide metabolic process; cell communication; regulation of hydrogen peroxide metabolic process; extracellular matrix disassembly; positive regulation of catalytic activity; regulation of respiratory burst | 16p13.3 |
| NOXRED1 | proline biosynthetic process | 14q24.3 |
| NPAP1 | - | 15q11-q13 |
| NPAP1P3 | - | - |
| NPAS1 | central nervous system development; behavior; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 19q13.2-q13.3 |
| NPAS2 | regulation of transcription, DNA-dependent; central nervous system development; cellular lipid metabolic process; small molecule metabolic process; positive regulation of transcription from RNA polymerase II promoter; rhythmic process | 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 | regulation of gene expression; positive regulation of transcription, DNA-dependent; regulation of transcription involved in G1/S phase of mitotic cell cycle; cell cycle | 11q22-q23 |
| NPB | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 17q25.3 |
| NPBWR2 | G-protein coupled receptor signaling pathway; opioid receptor signaling pathway | 20q13.3 |
| NPC1 | autophagy; cholesterol homeostasis; lysosomal transport; bile acid metabolic process; sterol transport; cholesterol efflux | 18q11.2 |
| NPC1L1 | sterol transport; cholesterol transport; lipoprotein metabolic process; small molecule metabolic process; intestinal cholesterol absorption; cholesterol biosynthetic process; lipid metabolic process; steroid metabolic process | 7p13 |
| NPC2 | intracellular cholesterol transport; glycolipid transport; cholesterol homeostasis; cholesterol efflux; intracellular sterol transport; cholesterol transport; regulation of isoprenoid metabolic process; response to virus; phospholipid transport | 14q24.3 |
| NPCDR1 | - | 3p21.1 |
| NPDC1 | - | 9q34.3 |
| NPEPL1 | proteolysis | 20q13.32 |
| NPEPPS | antigen processing and presentation of peptide antigen via MHC class I; protein polyubiquitination; proteolysis; cellular response to hypoxia | 17q21 |
| NPFF | synaptic transmission; neuropeptide signaling pathway | 12q13.13 |
| NPFFR1 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 10q21-q22 |
| NPFFR2 | G-protein coupled receptor signaling pathway; detection of abiotic stimulus | 4q21 |
| NPHP1 | signal transduction; excretion; visual behavior; cell-cell adhesion; cell projection organization; actin cytoskeleton organization; retina development in camera-type eye; spermatid differentiation | 2q13 |
| NPHP3 | lipid metabolic process; Wnt receptor signaling pathway; photoreceptor cell maintenance; maintenance of organ identity; regulation of Wnt receptor signaling pathway, planar cell polarity pathway; negative regulation of canonical Wnt receptor signaling pathway; cilium morphogenesis | 3q22.1 |
| NPHP3-AS1 | - | 3q22.1 |
| NPHP4 | cell-cell adhesion; visual behavior; signal transduction; actin cytoskeleton organization; retina development in camera-type eye | 1p36 |
| NPHS1 | glomerular visceral epithelial cell development; excretion; regulation of excretion; glomerular basement membrane development; cell adhesion; myoblast fusion; skeletal muscle tissue development; muscle organ development; multicellular organismal development; JNK cascade; MAPK cascade | 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 | cellular membrane fusion; Golgi organization; ER-associated protein catabolic process | 17qter |
| NPM1 | regulation of endodeoxyribonuclease activity; nucleosome assembly; regulation of endoribonuclease activity; protein oligomerization; positive regulation of NF-kappaB transcription factor activity; regulation of centriole replication; interspecies interaction between organisms; ribosome assembly; CenH3-containing nucleosome assembly at centromere; protein localization; DNA repair; intracellular protein transport; nucleocytoplasmic transport; anti-apoptosis; response to stress; centrosome cycle; negative regulation of centrosome duplication; negative regulation of cell proliferation; signal transduction; cell aging | 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 | positive regulation of meiosis; oocyte differentiation; regulation of exit from mitosis; chromatin remodeling; embryo development; single fertilization | 8p21.3 |
| NPM3 | rRNA processing; rRNA transcription | 10q24.31 |
| NPNT | multicellular organismal development; cell differentiation; cell adhesion | 4q24 |
| NPPA | regulation of blood vessel size; response to insulin stimulus; negative regulation of cell growth; regulation of blood pressure; receptor guanylyl cyclase signaling pathway; cGMP biosynthetic process | 1p36.21 |
| NPPA-AS1 | - | 1p36.21 |
| NPPB | receptor guanylyl cyclase signaling pathway; 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; heart development; response to peptide hormone stimulus; cell surface receptor signaling pathway; inflammatory response; response to hypoxia; cGMP biosynthetic process; negative regulation of smooth muscle cell proliferation; regulation of blood vessel size; response to calcium ion | 1p36.2 |
| NPPC | regulation of blood vessel size; regulation of smooth muscle cell proliferation; organ development; positive regulation of vasodilation; positive regulation of osteoblast differentiation; response to ethanol; 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; negative regulation of DNA metabolic process; receptor guanylyl cyclase signaling pathway; cGMP biosynthetic process; growth plate cartilage chondrocyte proliferation; growth plate cartilage chondrocyte differentiation; response to hypoxia; ossification | 2q24-qter |
| NPR1 | positive regulation of renal sodium excretion; positive regulation of urine volume; regulation of blood vessel size; negative regulation of smooth muscle cell proliferation; intracellular signal transduction; positive regulation of cGMP biosynthetic process; negative regulation of cell growth; negative regulation of angiogenesis; regulation of blood pressure; receptor guanylyl cyclase signaling pathway; cell surface receptor signaling pathway; cGMP biosynthetic process; regulation of vascular permeability; dopamine metabolic process; regulation of vasodilation; body fluid secretion | 1q21-q22 |
| NPR2 | regulation of blood pressure; intracellular signal transduction; bone development; cellular response to granulocyte macrophage colony-stimulating factor stimulus; receptor guanylyl cyclase signaling pathway; cell surface receptor signaling pathway; signal transduction; cGMP biosynthetic process; ossification | 9p21-p12 |
| NPR3 | skeletal system development; osteoclast proliferation; 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; regulation of blood pressure; regulation of osteoblast proliferation; positive regulation of urine volume | 5p14-p13 |
| NPRL2 | negative regulation of kinase activity; protein phosphorylation | 3p21.3 |
| NPRL3 | - | 16p13.3 |
| NPSR1 | - | 7p14.3 |
| NPSR1-AS1 | - | 7p14.3 |
| NPTN | long-term synaptic potentiation; positive regulation of long-term neuronal synaptic plasticity; positive regulation of fibroblast growth factor receptor signaling pathway; positive regulation of neuron projection development; nervous system development; elevation of cytosolic calcium ion concentration; homophilic cell adhesion; cell adhesion; positive regulation of protein phosphorylation | 15q22 |
| NPTN-IT1 | - | 15q24.1 |
| NPTX1 | axonogenesis involved in innervation; transport; synaptic transmission; central nervous system development | 17q25.3 |
| NPTX2 | synaptic transmission | 7q21.3-q22.1 |
| NPTXR | response to hydrogen peroxide | 22q13.1 |
| NPVF | sensory perception of pain; neuropeptide signaling pathway; negative regulation of gonadotropin secretion | 7p21-p15 |
| NPW | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; feeding behavior | 16p13.3 |
| NPY | central nervous system neuron development; calcium ion transport; cellular component movement; G-protein signaling, coupled to cyclic nucleotide second messenger; neuropeptide signaling pathway; synaptic transmission; behavior; sensory perception of taste; negative regulation of blood pressure; positive regulation of appetite; neuron projection development; cerebral cortex development; digestion; adult feeding behavior; cell proliferation; blood circulation; feeding behavior | 7p15.1 |
| NPY1R | outflow tract morphogenesis; reduction of cytosolic calcium ion concentration; negative regulation of hormone secretion; positive regulation of vasoconstriction; regulation of multicellular organism growth; response to estradiol stimulus; sensory perception of pain; feeding behavior; locomotory behavior; synaptic transmission; inhibition of adenylate cyclase activity by G-protein signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; glucose metabolic process; regulation of blood pressure | 4q31.3-q32 |
| NPY5R | positive regulation of acute inflammatory response; generation of ovulation cycle rhythm; positive regulation of smooth muscle cell proliferation; positive regulation of anti-apoptosis; eating behavior; negative regulation of synaptic transmission, GABAergic; negative regulation of glutamate secretion; synaptic transmission; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; cardiac left ventricle morphogenesis; outflow tract morphogenesis | 4q31-q32 |
| NPY6R | - | 5q31.2 |
| NQO1 | positive regulation of neuron apoptosis; regulation of cellular amino acid metabolic process; xenobiotic metabolic process; nitric oxide biosynthetic process; response to oxidative stress; synaptic transmission, cholinergic; response to toxin; cellular nitrogen compound metabolic process; negative regulation of catalytic activity; small molecule metabolic process | 16q22.1 |
| NQO2 | - | 6p25.2 |
| NR0B1 | steroid biosynthetic process; gene expression; intracellular receptor mediated signaling pathway; adrenal gland development; male sex determination; male gonad development; gonad development; negative regulation of transcription from RNA polymerase II promoter; protein localization; spermatogenesis; response to stress; pituitary gland development; hypothalamus development; Sertoli cell differentiation; negative regulation of transcription, DNA-dependent; negative regulation of cell differentiation; response to peptide hormone stimulus; negative regulation of sequence-specific DNA binding transcription factor activity; Leydig cell differentiation; negative regulation of intracellular steroid hormone receptor signaling pathway; response to organic substance | Xp21.3 |
| NR0B2 | cholesterol metabolic process; negative regulation of transcription from RNA polymerase II promoter; response to glucose stimulus; gene expression; androgen receptor signaling pathway; organ regeneration; positive regulation of insulin secretion; negative regulation of sequence-specific DNA binding transcription factor activity | 1p36.1 |
| NR1D1 | circadian rhythm; positive regulation of cholesterol homeostasis; cellular response to lipopolysaccharide; gene expression; negative regulation of transcription from RNA polymerase II promoter; intracellular receptor mediated signaling pathway; negative regulation of toll-like receptor 4 signaling pathway; steroid hormone mediated signaling pathway; negative regulation of receptor biosynthetic process | 17q11.2 |
| NR1D2 | gene expression; regulation of transcription, DNA-dependent; intracellular receptor mediated signaling pathway | 3p24.2 |
| NR1H2 | negative regulation of transcription from RNA polymerase II promoter; cellular lipid metabolic process; gene expression; negative regulation of macrophage derived foam cell differentiation; positive regulation of triglyceride biosynthetic process; positive regulation of cholesterol efflux; positive regulation of lipid storage; 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; positive regulation of fatty acid biosynthetic process; negative regulation of proteolysis; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; retinoic acid receptor signaling pathway; negative regulation of pinocytosis; positive regulation of lipoprotein lipase activity; lipid homeostasis; positive regulation of secretion of lysosomal enzymes; positive re | 19q13.3 |
| NR1H3 | positive regulation of toll-like receptor 4 signaling pathway; negative regulation of macrophage activation; regulation of circadian rhythm; negative regulation of transcription from RNA polymerase II promoter; insulin receptor signaling pathway; gene expression; negative regulation of macrophage derived foam cell differentiation; positive regulation of triglyceride biosynthetic process; cholesterol homeostasis; negative regulation of cholesterol storage; response to progesterone stimulus; positive regulation of cholesterol transport; positive regulation of receptor biosynthetic process; negative regulation of lipid transport; negative regulation of pancreatic juice secretion; positive regulation of cholesterol efflux; positive regulation of cellular protein metabolic process; intracellular receptor mediated signaling pathway; cellular lipid metabolic process; sterol homeostasis; negative regulation of interferon-gamma-mediated signaling pathway; triglyceride homeostasis; negative regulation of secretion of l | 11p11.2 |
| NR1H4 | positive regulation of glutamate metabolic process; signal transduction; regulation of cholesterol metabolic process; bile acid metabolic process; regulation of transcription, DNA-dependent; cellular response to organic nitrogen; gene expression; intracellular receptor mediated signaling pathway; nitrogen catabolite activation of transcription from RNA polymerase II promoter; regulation of urea metabolic process; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; cellular response to acid; regulation of bile acid biosynthetic process | 12q23.1 |
| NR1I2 | signal transduction; xenobiotic metabolic process; steroid metabolic process; gene expression; intracellular receptor mediated signaling pathway; exogenous drug catabolic process; drug export; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; xenobiotic transport | 3q12-q13.3 |
| NR1I3 | regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; intracellular receptor mediated signaling pathway; androgen receptor signaling pathway; signal transduction; gene expression | 1q23.3 |
| NR2C1 | positive regulation of retinoic acid receptor signaling pathway; steroid hormone mediated signaling pathway; gene expression; negative regulation of transcription from RNA polymerase II promoter | 12q22 |
| NR2C2 | cell differentiation; regulation of transcription, DNA-dependent; spermatogenesis; nervous system development; gene expression; positive regulation of transcription from RNA polymerase II promoter | 3p25 |
| NR2C2AP | gene expression; cell adhesion | 19p13.11 |
| NR2E1 | regulation of cellular component organization; negative regulation of astrocyte differentiation; olfactory bulb development; layer formation in cerebral cortex; forebrain generation of neurons; cerebral cortex neuron differentiation; anterior commissure morphogenesis; negative regulation of neuron differentiation; cell fate commitment; steroid hormone mediated signaling pathway; behavior; regulation of timing of neuron differentiation; long-term synaptic potentiation; regulation of cell migration involved in sprouting angiogenesis; negative regulation of neural precursor cell proliferation; positive regulation of neural precursor cell proliferation; somatic stem cell maintenance; social behavior; negative regulation of apoptotic process; cerebral cortex development; retina development in camera-type eye; behavioral fear response; aggressive behavior; multicellular organismal development; nervous system development; brain development; visual perception; amygdala development; positive regulation of angiogenesis | 6q21 |
| NR2E3 | phototransduction; visual perception; gene expression; intracellular receptor mediated signaling pathway; signal transduction; response to stimulus; transcription from RNA polymerase II promoter | 15q22.32 |
| NR2F1 | negative regulation of transcription from RNA polymerase II promoter; forebrain development; intracellular receptor mediated signaling pathway; gene expression; signal transduction; regulation of transcription, DNA-dependent; neuron migration | 5q14 |
| NR2F1-AS1 | - | 5q15 |
| NR2F2 | regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; neuron migration; intracellular receptor mediated signaling pathway; regulation of transcription involved in lymphatic endothelial cell fate commitment; limb development; blood vessel morphogenesis; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of cyclin-dependent protein kinase activity; response to estradiol stimulus; forebrain development; negative regulation of endothelial cell proliferation; 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, DNA-dependent; lymph vessel development | 15q26 |
| NR2F2-AS1 | - | 15q26.2 |
| NR2F6 | entrainment of circadian clock by photoperiod; detection of temperature stimulus involved in sensory perception of pain; neuron development; steroid hormone mediated signaling pathway; intracellular receptor mediated signaling pathway; gene expression; signal transduction; negative regulation of transcription from RNA polymerase II promoter | 19p13.1 |
| NR3C1 | anti-apoptosis; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription, DNA-dependent; regulation of gluconeogenesis; negative regulation of vascular permeability; glucocorticoid receptor signaling pathway; glucocorticoid mediated signaling pathway; response to activity; regulation of cell proliferation; 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; signal transduction; positive regulation of glutamate secretion; gene expression; response to radiation; glucocorticoid metabolic process; circadian rhythm; aging; brain development; response to arsenic-containing substance; response to mercury ion; chromatin-mediated maintenance of transcription; response to corticosterone stimulus; mammary gland duct morphogenesis; cellular response to magnesium ion; positive regu | 5q31.3 |
| NR3C2 | signal transduction; regulation of transcription, DNA-dependent; gene expression; steroid hormone mediated signaling pathway | 4q31.1 |
| NR4A1 | endothelial cell chemotaxis; phosphatidylinositol-mediated signaling; cellular response to vascular endothelial growth factor stimulus; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; cellular response to fibroblast growth factor stimulus; nerve growth factor receptor signaling pathway; 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; positive regulation of endothelial cell proliferation | 12q13 |
| NR4A2 | response to amphetamine; neuron maturation; positive regulation of catalytic activity; negative regulation of neuron apoptosis; regulation of respiratory gaseous exchange; positive regulation of transcription from RNA polymerase II promoter; dopaminergic neuron differentiation; dopamine biosynthetic process; regulation of dopamine metabolic process; cellular response to stress; cellular response to extracellular stimulus; response to hypoxia; neuron migration; transcription, DNA-dependent; gene expression; central nervous system neuron differentiation; habenula development; intracellular receptor mediated signaling pathway; central nervous system projection neuron axonogenesis; response to insecticide; death; signal transduction; response to inorganic substance; post-embryonic development; adult locomotory behavior; nervous system development | 2q22-q23 |
| NR4A3 | gene expression; positive regulation of leukocyte apoptosis; vestibular reflex; neuromuscular process controlling balance; mesoderm formation; axon guidance; hippocampus development; semicircular canal morphogenesis; positive regulation of cell cycle; negative regulation of neuron apoptosis; response to peptide hormone stimulus; steroid hormone mediated signaling pathway; cellular response to stress; organ regeneration; adult behavior | 9q22 |
| NR5A1 | male gonad development; regulation of steroid biosynthetic process; maintenance of protein location in nucleus; positive regulation of male gonad development; negative regulation of female gonad development; positive regulation of transcription from RNA polymerase II promoter; intracellular receptor mediated signaling pathway; adrenal gland development; cell differentiation; gene expression; tissue development; primary sex determination; cell-cell signaling; luteinization | 9q33 |
| NR5A2 | positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; bile acid metabolic process; positive regulation of viral genome replication; cholesterol homeostasis; homeostatic process; regulation of cell proliferation; intracellular receptor mediated signaling pathway; gene expression; regulation of transcription, DNA-dependent; embryo development | 1q32.1 |
| NR6A1 | intracellular receptor mediated signaling pathway; negative regulation of transcription from RNA polymerase II promoter; gamete generation; spermatogenesis; cell proliferation; gene expression | 9q33.3 |
| NRADDP | - | 3p21.31 |
| NRAP | - | 10q24-q26 |
| NRARP | multicellular organismal development; regulation of cell-cell adhesion; negative regulation of transcription from RNA polymerase II promoter; positive regulation of endothelial cell proliferation; patterning of blood vessels; negative regulation of T cell differentiation; positive regulation of canonical Wnt receptor signaling pathway; blood vessel endothelial cell proliferation involved in sprouting angiogenesis; negative regulation of Notch signaling pathway | 9q34.3 |
| NRAS | negative regulation of neuron apoptosis; leukocyte migration; positive regulation of Rac protein signal transduction; regulation of synaptic transmission, GABAergic; actin cytoskeleton organization; MAPK cascade; activation of MAPKK activity; signal transduction; fibroblast growth factor receptor signaling pathway; visual learning; insulin receptor signaling pathway; positive regulation of cell proliferation; blood coagulation; axon guidance; Ras protein signal transduction; small GTPase mediated signal transduction; epidermal growth factor receptor signaling pathway; regulation of long-term neuronal synaptic plasticity; 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 | ER to Golgi vesicle-mediated transport; gene expression | 2p23 |
| NRBP2 | protein phosphorylation; nervous system development; neuron differentiation; negative regulation of neuron apoptosis | 8q24.3 |
| NRCAM | neuron migration; axonogenesis; 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; angiogenesis | 7q31 |
| NRDC | proteolysis; neuromuscular junction development; cell proliferation; cell migration; regulation of endopeptidase activity; positive regulation of membrane protein ectodomain proteolysis | 1p32.2-p32.1 |
| NRDE2 | - | 14q32.11 |
| NREP | regulation of transforming growth factor beta receptor signaling pathway; axon regeneration; regulation of neuron differentiation | 5q22.1 |
| NRF1 | regulation of transcription from RNA polymerase II promoter; generation of precursor metabolites and energy; mitochondrion organization; response to hypoxia; organ regeneration; response to estradiol stimulus; response to lipopolysaccharide; response to folic acid; response to electrical stimulus | 7q32 |
| NRG1 | activation of transmembrane receptor protein tyrosine kinase activity; negative regulation of secretion; ventricular cardiac muscle cell differentiation; negative regulation of transcription, DNA-dependent; positive regulation of cell adhesion; cellular protein complex disassembly; regulation of protein heterodimerization activity; regulation of protein homodimerization activity; wound healing; mammary gland development; positive regulation of cell growth; positive regulation of striated muscle cell differentiation; cardiac muscle cell differentiation; Notch signaling pathway; positive regulation of cardiac muscle cell proliferation; positive regulation of protein tyrosine kinase activity; transmembrane receptor protein tyrosine kinase signaling pathway; cell communication; anti-apoptosis; neural crest cell development; negative regulation of cardiac muscle cell apoptosis; embryo development; cell proliferation; nervous system development | 8p12 |
| NRG1-IT1 | - | 8p12 |
| NRG2 | signal transduction; embryo development | 5q23-q33 |
| NRG3 | regulation of cell growth; activation of transmembrane receptor protein tyrosine kinase activity | 10q22-q23 |
| NRG3-AS1 | - | 10q23.1 |
| NRG4 | - | 15q24.2 |
| NRGN | signal transduction; nervous system development | 11q24 |
| NRIP1 | ovarian follicle rupture; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; ovulation; androgen receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; lipid storage | 21q11.2 |
| NRIP3 | proteolysis | 11p15.3 |
| NRK | - | Xq22.3 |
| NRL | response to stimulus; retinal rod cell development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of rhodopsin gene expression; visual perception; regulation of rhodopsin gene expression; transcription from RNA polymerase II promoter; multicellular organismal development | 14q11.1-q11.2 |
| NRM | - | 6p21.33 |
| NRN1 | - | 6p25.1 |
| NRN1L | - | 16q22.1 |
| NRP1 | cellular response to hepatocyte growth factor stimulus; platelet-derived growth factor receptor signaling pathway; vascular endothelial growth factor receptor signaling pathway; hepatocyte growth factor receptor signaling pathway; sympathetic nervous system development; negative regulation of axon extension involved in axon guidance; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of cytokine activity; regulation of vesicle-mediated transport; dichotomous subdivision of terminal units involved in salivary gland branching; semaphorin-plexin signaling pathway; axon guidance; cell differentiation; trigeminal nerve morphogenesis; cell migration; dendrite development; positive regulation of smooth muscle cell migration; positive regulation of endothelial cell migration; organ morphogenesis; response to wounding; heart development; axonal fasciculation; vascular endothelial growth factor signaling pathway; nervous system development; multicellular organismal development; cell-cell sign | 10p12 |
| NRP2 | cell differentiation; neural crest cell migration; negative chemotaxis; semaphorin-plexin signaling pathway; vascular endothelial growth factor receptor signaling pathway; vascular endothelial growth factor signaling pathway; positive regulation of endothelial cell migration; heart development; axon guidance; angiogenesis; nervous system development; multicellular organismal development; cell adhesion; positive regulation of endothelial cell proliferation | 2q33.3 |
| NRROS | - | 3q29 |
| NRSN1 | nervous system development | 6p22.3 |
| NRSN2 | - | 20p13 |
| NRTN | transmembrane receptor protein tyrosine kinase signaling pathway; nervous system development; axon guidance; nerve development; neural crest cell migration; neuron projection development; MAPK cascade | 19p13.3 |
| NRXN1 | presynaptic membrane assembly; gamma-aminobutyric acid receptor clustering; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; postsynaptic membrane assembly; N-methyl-D-aspartate receptor clustering; gephyrin clustering; guanylate kinase-associated protein clustering; neuroligin clustering; postsynaptic density protein 95 clustering; receptor localization to synapse; regulation of N-methyl-D-aspartate selective glutamate receptor activity; learning; cell adhesion; axon guidance; calcium-dependent cell-cell adhesion; neuronal signal transduction; synaptic transmission; adult behavior; neuron cell-cell adhesion; social behavior; pigmentation; heterophilic cell-cell adhesion; synaptic vesicle clustering; angiogenesis; establishment of protein localization; neuromuscular process controlling balance; positive regulation of synaptic transmission, glutamatergic; prepulse inhibition; face morphogenesis; vocalization behavior; positive regulation of establishmen | 2p16.3 |
| NRXN2 | neuroligin clustering; postsynaptic density protein 95 clustering; gephyrin clustering; postsynaptic membrane assembly; cell adhesion; synaptic transmission; neurotransmitter secretion | 11q13 |
| NRXN3 | axon guidance; cell adhesion; angiogenesis | 14q31 |
| NSA2 | rRNA processing | 5q13.3 |
| NSAP11 | - | 8p22 |
| NSD1 | negative regulation of transcription from RNA polymerase II promoter; gastrulation with mouth forming second; histone H3-K36 methylation; chromatin modification; histone methylation; histone H4-K20 methylation; positive regulation of transcription, DNA-dependent | 5q35 |
| NSDHL | hair follicle development; cholesterol biosynthetic process; smoothened signaling pathway; small molecule metabolic process; labyrinthine layer blood vessel development | Xq28 |
| NSF | positive regulation of receptor recycling; potassium ion transport; exocytosis; synaptic transmission; protein transport; regulation of exocytosis; plasma membrane fusion | 17q21 |
| NSFL1C | - | 20p13 |
| NSFP1 | - | 17q21.31 |
| NSG1 | - | 4p16.3 |
| NSL1 | M phase of mitotic cell cycle; cell division; chromosome segregation; mitotic prometaphase; mitotic cell cycle | 1q41 |
| NSMAF | signal transduction; ceramide metabolic process | 8q12-q13 |
| NSMCE1 | positive regulation of response to DNA damage stimulus; DNA repair; DNA recombination; protein ubiquitination; intracellular signal transduction | 16p12.1 |
| NSMCE2 | DNA recombination; positive regulation of maintenance of mitotic sister chromatid cohesion; double-strand break repair via nonhomologous end joining; DNA repair; double-strand break repair via homologous recombination; telomere maintenance via recombination; cellular senescence; positive regulation of mitotic metaphase/anaphase transition | 8q24.13 |
| NSMCE3 | positive regulation of protein ubiquitination; regulation of transcription, DNA-dependent; regulation of growth | 15q13.1 |
| NSMCE4A | positive regulation of response to DNA damage stimulus | 10q26.13 |
| NSMF | - | 9q34.3 |
| NSRP1 | developmental process; RNA splicing; nucleocytoplasmic transport; mRNA processing; regulation of alternative nuclear mRNA splicing, via spliceosome | 17q11.2 |
| NSUN2 | tRNA processing; tRNA methylation | 5p15.31 |
| NSUN3 | - | 3q11.1 |
| NSUN4 | - | 1p34 |
| NSUN5 | - | 7q11.23 |
| NSUN5P1 | - | 7q11.23 |
| NSUN6 | - | 10p12.31 |
| NSUN7 | - | 4p14 |
| NT5C | dephosphorylation; pyrimidine deoxyribonucleotide catabolic process; small molecule metabolic process; pyrimidine nucleoside catabolic process; nucleotide metabolic process; pyrimidine base metabolic process; purine nucleotide catabolic process; nucleobase-containing small molecule metabolic process; purine base metabolic process | 17q25.1 |
| NT5C2 | small molecule metabolic process; purine nucleotide catabolic process; nucleobase-containing small molecule metabolic process; nucleotide metabolic 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 | pyrimidine base metabolic process; nucleobase-containing small molecule metabolic process; negative regulation of inflammatory response; pyrimidine nucleoside catabolic process; adenosine biosynthetic process; small molecule metabolic process; dephosphorylation; nucleotide catabolic process; DNA metabolic process; AMP catabolic process; purine nucleotide catabolic process; purine nucleotide biosynthetic process; purine base metabolic process | 6q14-q21 |
| NT5M | dUMP catabolic process; pyrimidine nucleoside catabolic process; nucleobase-containing small molecule metabolic process; pyrimidine deoxyribonucleotide catabolic process; small molecule metabolic process; nucleotide metabolic process; pyrimidine base metabolic process; DNA replication | 17p11.2 |
| NTAN1 | metabolic process; memory; adult locomotory behavior | 16p13.11 |
| NTAN1P2 | - | - |
| NTF3 | axon guidance; signal transduction; cell-cell signaling; neuromuscular synaptic transmission; nervous system development; glial cell fate determination; brain development; peripheral nervous system development; 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 | 12p13 |
| NTF4 | ganglion mother cell fate determination; long-term memory; sensory organ boundary specification; adult locomotory behavior; epidermis development; mechanoreceptor differentiation | 19q13.3 |
| NTHL1 | depyrimidination; nucleotide-excision repair, DNA incision, 5'-to lesion; base-excision repair, AP site formation; base-excision repair; DNA repair | 16p13.3 |
| NTM | neuron recognition; cell adhesion | 11q25 |
| NTMT1 | - | 9q34.11 |
| NTN1 | positive regulation of cell proliferation; establishment of nucleus localization; positive regulation of axon extension; mammary gland development; cell-cell adhesion; regulation of cell migration; axon guidance; apoptotic process; negative regulation of axon extension; neuron migration; mammary gland duct morphogenesis | 17p13-p12 |
| NTN3 | axon guidance; muscle cell differentiation; positive regulation of muscle cell differentiation | 16p13.3 |
| NTN4 | axon guidance; neuron remodeling; 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 | multicellular organismal development; nervous system development; axonogenesis; cell differentiation | 9q34 |
| NTPCR | - | 1q42.2 |
| NTRK1 | nervous system development; transmembrane receptor protein tyrosine kinase signaling pathway; multicellular organismal development; negative regulation of cell proliferation; Ras protein signal transduction; small GTPase mediated signal transduction; activation of phospholipase C activity; activation of adenylate cyclase activity; activation of MAPKK activity; protein phosphorylation; negative regulation of neuron apoptosis; positive regulation of angiogenesis; positive regulation of Ras protein signal transduction; protein autophosphorylation; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; sympathetic nervous system development; positive regulation of NF-kappaB transcription factor activity; axonogenesis involved in innervation; positive regulation of ERK1 and ERK2 cascade; developmental programmed cell death; positive regulation of neuron projection development; cell differentiation; positive regulation of Ras GTPase activity; positive regulation of programmed cell | 1q21-q22 |
| NTRK2 | protein autophosphorylation; negative regulation of neuron apoptosis; nerve growth factor receptor signaling pathway; positive regulation of axonogenesis; neuron differentiation; central nervous system neuron development; positive regulation of MAPK cascade; regulation of Rac GTPase activity; brain-derived neurotrophic factor receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase cascade; cerebral cortex development; positive regulation of neuron projection development; positive regulation of gene expression; positive regulation of cell proliferation; learning; nervous system development; neuron migration; transmembrane receptor protein tyrosine kinase signaling pathway; activation of adenylate cyclase activity; multicellular organismal development | 9q22.1 |
| NTRK3 | protein autophosphorylation; cell differentiation; response to ethanol; mechanoreceptor differentiation; neuron migration; response to stress; transmembrane receptor protein tyrosine kinase signaling pathway; multicellular organismal development; nervous system development; modulation by virus of host transcription; response to axon injury; cochlea development; cellular response to retinoic acid; negative regulation of cell death; response to corticosterone stimulus; negative regulation of astrocyte differentiation; positive regulation of axon extension involved in regeneration; neuron fate specification | 15q25 |
| NTS | regulation of blood vessel size; signal transduction | 12q21 |
| NTSR1 | adult locomotory behavior; synaptic transmission; G-protein coupled receptor signaling pathway | 20q13 |
| NUAK1 | regulation of cellular senescence; response to DNA damage stimulus; regulation of cell adhesion; regulation of myosin-light-chain-phosphatase activity; regulation of cell proliferation | 12q23.3 |
| NUAK2 | actin cytoskeleton organization; cellular response to glucose starvation; protein phosphorylation; negative regulation of apoptotic process | 1q32.1 |
| NUB1 | ubiquitin-dependent protein catabolic process; protein ubiquitination; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; response to tumor necrosis factor; response to interferon-gamma | 7q36 |
| NUBP1 | cell growth; iron-sulfur cluster assembly; cellular iron ion homeostasis | 16p13.13 |
| NUBP2 | - | 16p13.3 |
| NUBPL | mitochondrion morphogenesis; mitochondrial respiratory chain complex I assembly | 14q12 |
| NUCB1 | - | 19q13.33 |
| NUCB1-AS1 | - | - |
| NUCB2 | - | 11p15.1 |
| NUCKS1 | - | 1q32.1 |
| NUDC | response to peptide hormone stimulus; cell proliferation; multicellular organismal development; M phase of mitotic cell cycle; nuclear migration; mitotic prometaphase; cytokinesis; mitotic cell cycle | 1p35-p34 |
| NUDCD1 | - | 8q23 |
| NUDCD2 | - | 5q34 |
| NUDCD3 | - | 7p13-p12 |
| NUDCP2 | - | 2q31 |
| NUDT1 | DNA repair; GTP catabolic process; purine nucleotide catabolic process; dGTP catabolic process; response to oxidative stress; DNA protection | 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 polyadenylation; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; RNA splicing; gene expression; mRNA 3'-end processing; protein tetramerization | 16q12.2 |
| NUDT22 | - | 11q13.1 |
| NUDT3 | diphosphoinositol polyphosphate catabolic process; cell-cell signaling; diadenosine polyphosphate catabolic process | 6p21.2 |
| NUDT4 | intracellular signal transduction; cyclic nucleotide metabolic process; calcium-mediated signaling; cyclic-nucleotide-mediated signaling; regulation of RNA export from nucleus; intracellular transport | 12q21 |
| NUDT4P1 | - | 1q21.1 |
| NUDT5 | nucleobase-containing compound metabolic process; nucleotide metabolic process; ribonucleoside diphosphate catabolic process; D-ribose catabolic process | 10p14 |
| NUDT6 | - | 4q26 |
| NUDT7 | nucleoside diphosphate metabolic process | 16q23.1 |
| NUDT8 | - | 11q13.2 |
| NUDT9 | ADP catabolic process; IDP catabolic process | 4q22.1 |
| NUDT9P1 | - | 10q23.32 |
| NUF2 | cell division; chromosome segregation; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 1q23.3 |
| NUFIP1 | box C/D snoRNP assembly; RNA processing; positive regulation of transcription from RNA polymerase II promoter | 13q14 |
| NUFIP1P | - | 6q12 |
| NUFIP2 | - | 17q11.2 |
| NUGGC | - | 8p21.1 |
| NUMA1 | establishment of mitotic spindle orientation; lung epithelial cell differentiation; nucleus organization; mitotic cell cycle; G2/M transition of mitotic cell cycle; mitotic anaphase | 11q13 |
| NUMB | nervous system development; multicellular organismal development; axon guidance; lateral ventricle development; neuroblast division in subventricular zone; positive regulation of neurogenesis | 14q24.3 |
| NUMBL | cytokine-mediated signaling pathway; multicellular organismal development; nervous system development; neuroblast proliferation; axonogenesis; protein metabolic process; lateral ventricle development; neuroblast division in subventricular zone; positive regulation of dendrite morphogenesis; positive regulation of neurogenesis; adherens junction organization; forebrain development | 19q13.13-q13.2 |
| NUP107 | transmembrane transport; small molecule metabolic process; cytokine-mediated signaling pathway; M phase of mitotic cell cycle; mitotic prometaphase; viral reproduction; glucose transport; hexose transport; regulation of glucose transport; mitotic cell cycle; carbohydrate metabolic process; transport; protein transport; mRNA export from nucleus | 12q15 |
| NUP133 | glucose transport; regulation of glucose transport; hexose transport; nuclear pore organization; mRNA export from nucleus; carbohydrate metabolic process; transmembrane transport; mitotic cell cycle; M phase of mitotic cell cycle; mitotic prometaphase; paraxial mesoderm development; viral reproduction; protein transport; cytokine-mediated signaling pathway; small molecule metabolic process | 1q42.13 |
| NUP153 | glucose transport; protein transport; regulation of glucose transport; hexose transport; carbohydrate metabolic process; viral reproduction; cytokine-mediated signaling pathway; small molecule metabolic process; interspecies interaction between organisms; mRNA transport; transmembrane transport | 6p22.3 |
| NUP155 | carbohydrate metabolic process; viral reproduction; nucleocytoplasmic transport; hexose transport; regulation of glucose transport; protein transport; glucose transport; cytokine-mediated signaling pathway; transmembrane transport; mRNA transport; small molecule metabolic process | 5p13.1 |
| NUP160 | mitotic cell cycle; viral reproduction; glucose transport; protein transport; regulation of glucose transport; hexose transport; M phase of mitotic cell cycle; mitotic prometaphase; mRNA export from nucleus; carbohydrate metabolic process; transmembrane transport; cytokine-mediated signaling pathway; small molecule metabolic process | 11p11.2 |
| NUP188 | mRNA transport; cytokine-mediated signaling pathway; viral reproduction; small molecule metabolic process; regulation of glucose transport; protein transport; glucose transport; hexose transport; carbohydrate metabolic process; transmembrane transport | 9q34.11 |
| NUP205 | protein import into nucleus, docking; viral reproduction; glucose transport; protein transport; cytokine-mediated signaling pathway; regulation of glucose transport; hexose transport; transmembrane transport; carbohydrate metabolic process; nucleocytoplasmic transport; small molecule metabolic process; mRNA transport | 7q33 |
| NUP210 | glucose transport; regulation of glucose transport; hexose transport; carbohydrate metabolic process; protein transport; viral reproduction; cytokine-mediated signaling pathway; small molecule metabolic process; transmembrane transport; mRNA transport | 3p25.1 |
| NUP210L | - | 1q21.3 |
| NUP210P1 | - | 3q21.3 |
| NUP214 | mRNA export from nucleus; cytokine-mediated signaling pathway; protein import into nucleus; protein export from nucleus; hexose transport; gene expression; regulation of glucose transport; protein transport; glucose transport; viral reproduction; RNA metabolic process; mRNA metabolic process; transmembrane transport; regulation of cell cycle; small molecule metabolic process; carbohydrate metabolic process | 9q34.1 |
| NUP35 | cytokine-mediated signaling pathway; carbohydrate metabolic process; hexose transport; small molecule metabolic process; regulation of glucose transport; protein transport; glucose transport; viral reproduction; mRNA transport; transmembrane transport | 2q32.1 |
| NUP37 | cytokine-mediated signaling pathway; small molecule metabolic process; viral reproduction; glucose transport; protein transport; mRNA transport; cell division; transmembrane transport; regulation of glucose transport; hexose transport; chromosome segregation; carbohydrate metabolic process; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 12q23.2 |
| NUP43 | transmembrane transport; cell division; mitotic prometaphase; carbohydrate metabolic process; regulation of glucose transport; protein transport; glucose transport; hexose transport; chromosome segregation; mitotic cell cycle; M phase of mitotic cell cycle; viral reproduction; cytokine-mediated signaling pathway; small molecule metabolic process; mRNA transport | 6q25.1 |
| NUP50 | cytokine-mediated signaling pathway; hexose transport; regulation of glucose transport; protein transport; glucose transport; carbohydrate metabolic process; viral reproduction; intracellular transport; small molecule metabolic process; transmembrane transport; mRNA transport | 22q13.31 |
| NUP50-AS1 | - | - |
| NUP50P1 | - | 14q23.3 |
| NUP50P3 | - | 5p14 |
| NUP54 | regulation of glucose transport; hexose transport; protein transport; carbohydrate metabolic process; small molecule metabolic process; protein targeting; glucose transport; viral reproduction; cytokine-mediated signaling pathway; mRNA transport; transmembrane transport | 4q21.1 |
| NUP58 | regulation of glucose transport; hexose transport; protein transport; glucose transport; nucleocytoplasmic transport; viral reproduction; carbohydrate metabolic process; cytokine-mediated signaling pathway; small molecule metabolic process; mRNA transport; transmembrane transport | 13q12.13 |
| NUP62 | cell surface receptor signaling pathway; transmembrane transport; regulation of signal transduction; mRNA transport; viral reproduction; cell aging; cell death; negative regulation of cell proliferation; negative regulation of Ras protein signal transduction; regulation of glucose transport; cytokine-mediated signaling pathway; protein transport; hexose transport; glucose transport; hormone-mediated signaling pathway; carbohydrate metabolic process; nucleocytoplasmic transport; positive regulation of transcription, DNA-dependent; positive regulation of epidermal growth factor receptor signaling pathway; small molecule metabolic process; regulation of Ras protein signal transduction; 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; negative regulation of epidermal growth factor receptor signaling pathway; transcription, DNA-dependent | 19q13.33 |
| NUP62CL | protein transport | Xq22.3 |
| NUP85 | carbohydrate metabolic process; transmembrane transport; M phase of mitotic cell cycle; mRNA transport; hexose transport; protein transport; chemotaxis; glucose transport; regulation of glucose transport; mitotic cell cycle; mitotic prometaphase; macrophage chemotaxis; small molecule metabolic process; lamellipodium assembly; cytokine-mediated signaling pathway; viral reproduction | 17q25.1 |
| NUP88 | transmembrane transport; mRNA transport; small molecule metabolic process; cytokine-mediated signaling pathway; viral reproduction; glucose transport; protein transport; regulation of glucose transport; hexose transport; carbohydrate metabolic process | 17p13.2 |
| NUP93 | mRNA transport; transmembrane transport; small molecule metabolic process; cytokine-mediated signaling pathway; viral reproduction; glucose transport; protein transport; regulation of glucose transport; hexose transport; carbohydrate metabolic process | 16q13 |
| NUP98 | interspecies interaction between organisms; mRNA transport; transmembrane transport; glucose transport; cytokine-mediated signaling pathway; protein import into nucleus, docking; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; carbohydrate metabolic process; DNA replication; nucleocytoplasmic transport; nuclear pore organization; hexose transport; regulation of glucose transport; protein transport; viral reproduction; small molecule metabolic process | 11p15.5 |
| NUPL2 | carbohydrate metabolic process; protein transport; transmembrane transport; cytokine-mediated signaling pathway; regulation of glucose transport; mRNA transport; hexose transport; protein export from nucleus; small molecule metabolic process; glucose transport; viral reproduction | 7p15 |
| NUPR1 | cell growth; induction of apoptosis | 16p11.2 |
| NUS1 | angiogenesis; cell differentiation; multicellular organismal development | 6q22.1 |
| NUS1P1 | - | Xp11.23 |
| NUS1P2 | - | 13q12.12 |
| NUS1P3 | - | 13q12 |
| NUSAP1 | cell division; cytokinesis after mitosis; mitotic chromosome condensation; establishment of mitotic spindle localization; mitotic sister chromatid segregation; positive regulation of mitosis; cell cycle | 15q15.1 |
| NUTF2 | protein import into nucleus; protein export from nucleus; transport | 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 | gene expression; transport; poly(A)+ mRNA export from nucleus; interspecies interaction between organisms; 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 | multicellular organismal development; transport; mRNA export from nucleus; RNA transport | Xq22 |
| NXN | multicellular organismal development; cell differentiation; Wnt receptor signaling pathway | 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 | RNA export from nucleus; protein export from nucleus; protein transport | 20p12-p11.2 |
| NXT1P1 | - | - |
| NXT2 | mRNA transport; protein transport | Xq23 |
| NYAP2 | - | 2q36.3 |
| NYNRIN | DNA integration | 14q12 |
| NYX | response to stimulus; visual perception | Xp11.4 |
| OACYLP | - | 18q21.32 |
| OAF | - | 11q23.3 |
| OARD1 | - | 6p21.1 |
| OAS1 | cellular response to interferon-alpha; negative regulation of viral genome replication; protein oligomerization; defense response to virus; interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway; regulation of ribonuclease activity; immune response; purine nucleotide biosynthetic process; cytokine-mediated signaling pathway | 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 | nucleobase-containing compound metabolic process; regulation of ribonuclease activity; type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; defense response to virus; negative regulation of viral genome replication; cytokine-mediated signaling pathway; immune response | 12q24.2 |
| OASL | type I interferon-mediated signaling pathway; interferon-gamma-mediated signaling pathway; cytokine-mediated signaling pathway; immune response | 12q24.2 |
| OAT | visual perception; cellular amino acid biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 10q26 |
| OAZ1 | regulation of cellular amino acid metabolic process; polyamine biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 19p13.3 |
| OAZ2 | regulation of cellular amino acid metabolic process; polyamine metabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 15q22.31 |
| OAZ3 | regulation of cellular amino acid metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; spermatogenesis | 1q21.3 |
| OBFC1 | telomere maintenance; telomere maintenance via telomere lengthening; positive regulation of DNA replication | 10q24.33 |
| OBP2B | sensory perception of smell; chemosensory behavior; response to stimulus | 9q34 |
| OBSCN | multicellular organismal development; regulation of small GTPase mediated signal transduction; apoptotic process; induction of apoptosis by extracellular signals; cell differentiation; small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction | 1q42.13 |
| OBSL1 | cytoskeleton organization; cardiac myofibril assembly | 2q35 |
| OC90 | lipid catabolic process; phospholipid metabolic process | 8q24.22 |
| OCA2 | melanocyte differentiation; melanin biosynthetic process; developmental pigmentation; transmembrane transport; tyrosine transport; cell proliferation; spermatid development; transport; eye pigment biosynthetic process | 15q |
| OCEL1 | - | 19p13.11 |
| OCIAD1 | - | 4p11 |
| OCIAD2 | - | 4p11 |
| OCLM | visual perception | 1q25 |
| OCLN | response to testosterone stimulus; response to organic cyclic compound; apoptotic process; S-adenosylhomocysteine metabolic process; cellular component disassembly involved in apoptosis; S-adenosylmethionine metabolic process; protein complex assembly | 5q13.1 |
| OCM | - | 7p22.1 |
| OCR1 | - | 1q32.1 |
| OCRL | lipid metabolic process; signal transduction; small GTPase mediated signal transduction; phosphatidylinositol phosphorylation; phosphatidylinositol dephosphorylation; regulation of small GTPase mediated signal transduction | Xq25 |
| ODAM | odontogenesis of dentin-containing tooth; biomineral tissue development | 4q13.3 |
| ODC1 | small molecule metabolic process; cellular nitrogen compound metabolic process; response to virus; positive regulation of cell proliferation; polyamine metabolic process; regulation of cellular amino acid metabolic process; kidney development; polyamine biosynthetic process | 2p25 |
| ODCP | - | 7q31-qter |
| ODF2 | spermatogenesis; cell differentiation; multicellular organismal development; mitotic cell cycle; G2/M transition of mitotic cell cycle | 9q34.11 |
| ODF2L | - | 1p22.3 |
| ODF3 | multicellular organismal development; spermatogenesis; cell differentiation | 11p15.5 |
| ODF3B | - | 22q13.33 |
| ODF3L1 | - | 15q24.2 |
| ODF3L2 | - | 19p13.3 |
| ODF4 | cell differentiation; multicellular organismal development; spermatogenesis | 17p13.1 |
| OFCC1 | - | 6p24.3 |
| OFD1 | G2/M transition of mitotic cell cycle; mitotic cell cycle; mitosis; centriole replication; cell projection organization; cilium axoneme assembly; cilium morphogenesis; epithelial cilium movement involved in determination of left/right asymmetry; spindle assembly involved in mitosis | Xp22 |
| OFD1P3Y | - | Yp11.2 |
| OFD1P7Y | - | Yq11.222 |
| OGDH | generation of precursor metabolites and energy; oxidation-reduction process; small molecule metabolic process; cellular nitrogen compound metabolic process; lysine catabolic process; tricarboxylic acid cycle; glycolysis | 7p14-p13 |
| OGDHL | glycolysis; tricarboxylic acid cycle | 10q11.23 |
| OGFOD1 | - | 16q12.2 |
| OGFOD2 | - | 12q24.31 |
| OGFOD3 | - | 17q25.3 |
| OGFR | opioid receptor signaling pathway; regulation of cell growth | 20q13.3 |
| OGFRL1 | - | 6q13 |
| OGFRP1 | - | 22q13.2 |
| OGG1 | base-excision repair, AP site formation; base-excision repair; regulation of transcription, DNA-dependent; response to oxidative stress; response to radiation; regulation of protein import into nucleus, translocation; depurination; DNA repair; nucleotide-excision repair | 3p26.2 |
| OGN | negative regulation of smooth muscle cell proliferation | 9q22 |
| OGT | protein O-linked glycosylation; apoptotic process; induction of apoptosis; signal transduction; response to nutrient; positive regulation of granulocyte differentiation; response to insulin stimulus; positive regulation of catalytic activity; regulation of Rac protein signal transduction; cellular response to retinoic acid; protein homotrimerization; positive regulation of histone H3-K4 methylation; phosphatidylinositol-mediated signaling; regulation of insulin receptor signaling pathway; positive regulation of proteolysis; histone H4-K16 acetylation; histone H4-K8 acetylation; histone H4-K5 acetylation | Xq13 |
| OIP5 | cell division; CenH3-containing nucleosome assembly at centromere; cell communication; mitosis; cell cycle; nucleosome assembly | 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 | multicellular organismal development; nervous system 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 | multicellular organismal development; neuron fate commitment; regulation of transcription, DNA-dependent | 21q22.11 |
| OLIG2 | nervous system development; positive regulation of oligodendrocyte differentiation; negative regulation of neuron differentiation; myelination; negative regulation of transcription from RNA polymerase II promoter; multicellular organismal development; spinal cord oligodendrocyte cell fate specification; neuron fate commitment | 21q22.11 |
| OLIG3 | regulation of transcription, DNA-dependent | 6q23.3 |
| OLMALINC | - | 10q24.31 |
| OLR1 | cell adhesion; leukocyte cell-cell adhesion; blood coagulation; blood circulation; cell death; lipoprotein metabolic process; response to hydrogen peroxide; leukocyte migration; inflammatory response; proteolysis | 12p13.2-p12.3 |
| OMA1 | proteolysis | 1p32.2-p32.1 |
| OMD | cell adhesion | 9q22.31 |
| OMG | negative regulation of axonogenesis; regulation of axonogenesis; regulation of collateral sprouting of intact axon in response to injury; nerve growth factor receptor signaling pathway; neuron projection regeneration; cell adhesion | 17q11.2 |
| OMP | signal transduction; synaptic transmission; sensory perception of smell; neurogenesis; response to stimulus | 11q13.5 |
| ONECUT1 | regulation of transcription, DNA-dependent; endoderm development; anatomical structure morphogenesis; B cell differentiation; positive regulation of cell migration; negative regulation of transforming growth factor beta receptor signaling pathway; endocrine pancreas development; positive regulation of transcription, DNA-dependent; cell fate commitment; cilium assembly; glucose metabolic process; epithelial cell development; regulation of cell-matrix adhesion; liver development; positive regulation of transcription from RNA polymerase II promoter; spleen development | 15q21.3 |
| ONECUT2 | cilium assembly; negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; cell fate commitment; epithelial cell development; liver development; regulation of cell-matrix adhesion; organ morphogenesis; positive regulation of cell migration; peripheral nervous system neuron development; endocrine pancreas development | 18q21.31 |
| ONECUT3 | regulation of transcription from RNA polymerase II promoter; endocrine pancreas development | 19p13.3 |
| OOEP | in utero embryonic development; protein phosphorylation; embryo implantation; fertilization; embryonic pattern specification; establishment or maintenance of apical/basal cell polarity; cellular protein complex assembly | 6q13 |
| OPA1 | axon transport of mitochondrion; GTP catabolic process; mitochondrial fusion; positive regulation of anti-apoptosis; response to stimulus; visual perception; inner mitochondrial membrane organization; mitochondrion organization; apoptotic process; mitochondrial fission | 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 | filopodium assembly; positive regulation of Rho GTPase activity; regulation of endocytosis; actin cytoskeleton organization; axon guidance; nervous system development; small GTPase mediated signal transduction; signal transduction; substrate-dependent cell migration, cell extension; regulation of synaptic transmission, glutamatergic; regulation of small GTPase mediated signal transduction; synaptic vesicle endocytosis | Xq12 |
| OPLAH | small molecule metabolic process; glutathione biosynthetic process; xenobiotic metabolic process | 8q24.3 |
| OPN1MW | - | Xq28 |
| OPN1SW | signal transduction; response to stimulus; protein-chromophore linkage; phototransduction; visual perception | 7q32.1 |
| OPN3 | phototransduction; protein-chromophore linkage; visual perception; regulation of circadian rhythm; response to stimulus; G-protein coupled receptor signaling pathway; detection of visible light; detection of light stimulus | 1q43 |
| OPN4 | protein-chromophore linkage; detection of visible light; phototransduction; visual perception; response to stimulus; rhythmic process; regulation of circadian rhythm | 10q22 |
| OPN5 | response to stimulus; protein-chromophore linkage; phototransduction; visual perception | 6p12.3 |
| OPRD1 | adult locomotory behavior; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor signaling pathway; protein import into nucleus, translocation; cellular response to growth factor stimulus; regulation of sensory perception of pain; negative regulation of calcium ion transport via voltage-gated calcium channel activity; 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; neuropeptide signaling pathway | 1p36.1-p34.3 |
| OPRK1 | 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; immune response | 8q11.2 |
| OPRL1 | G-protein coupled receptor signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; elevation of cytosolic calcium ion concentration; sensory perception | 20q13.33 |
| OPRM1 | cellular response to morphine; regulation of N-methyl-D-aspartate selective glutamate receptor activity; 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; G-protein signaling, coupled to cyclic nucleotide second messenger; behavior; sensory perception; activation of adenylate cyclase activity by dopamine receptor signaling pathway; positive regulation of neurogenesis; regulation of behavior; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; 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; negative regulation of adenylate cyclase activity; inhibition of adenylate cyclase activity by G-protein sig | 6q24-q25 |
| OPTC | - | 1q32.1 |
| OPTN | cell death; protein targeting to Golgi; cellular protein localization; Golgi to plasma membrane protein transport; Golgi organization; Golgi ribbon formation; signal transduction | 10p13 |
| OR10A3 | response to stimulus; detection of chemical stimulus involved in sensory perception of smell; 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 | response to stimulus; detection of chemical stimulus involved in sensory perception of smell; sensory perception of smell; G-protein coupled receptor signaling pathway | 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 | response to stimulus; sensory perception of smell; 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 | sensory perception of smell; response to stimulus; detection of chemical stimulus involved in 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 | response to stimulus; sensory perception of smell; detection of chemical stimulus involved in sensory perception of smell | 11p15.4 |
| OR51B6 | sensory perception of smell; detection of chemical stimulus involved in sensory perception of smell; response to stimulus | 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; response to stimulus; detection of chemical stimulus involved in sensory perception of smell | 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 | response to stimulus; detection of chemical stimulus involved in sensory perception of smell; 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; detection of chemical stimulus involved in sensory perception of smell; response to stimulus | 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 | ion transport; positive regulation of calcium ion transport; regulation of calcium ion transport; blood coagulation | 12q24.31 |
| ORAI2 | - | 7q22.1 |
| ORAI3 | - | 16p11.2 |
| ORAOV1 | - | 11q13.3 |
| ORAOV1P1 | - | - |
| ORC1 | 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; mitotic cell cycle; DNA replication; DNA-dependent DNA replication initiation | 1p32 |
| ORC2 | DNA-dependent DNA replication initiation; 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; negative regulation of transcription from RNA polymerase II promoter | 2q33 |
| ORC3 | mitotic cell cycle; DNA replication; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint | 6q14.3-q16.1 |
| ORC4 | 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 | 2q22-q23 |
| ORC5 | 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 | 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 | transport; inflammatory response; acute-phase response; regulation of immune system process | 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; protein retention in ER lumen; protein ubiquitination; ER-associated protein catabolic process; response to endoplasmic reticulum stress | 12q13 |
| OSBP | transport; lipid transport | 11q12-q13 |
| OSBP2 | lipid transport; transport | 22q12.2 |
| OSBPL10 | lipid transport; transport | 3p22.3 |
| OSBPL11 | transport; lipid transport | 3q21 |
| OSBPL1A | cholesterol metabolic process; vesicle-mediated transport; lipid transport | 18q11.1 |
| OSBPL2 | lipid transport; transport | 20q13.3 |
| OSBPL3 | lipid transport; transport | 7p15 |
| OSBPL5 | lipid transport; Golgi to plasma membrane transport; transport; cholesterol metabolic process; cholesterol transport | 11p15.4 |
| OSBPL6 | transport; lipid transport | 2q32.1 |
| OSBPL7 | lipid transport; transport | 17q21 |
| OSBPL8 | lipid transport; transport | 12q14 |
| OSBPL9 | lipid transport; transport | 1p32.3 |
| OSBPL9P2 | - | 11q14.3 |
| OSCAR | - | 19q13.42 |
| OSCP1 | transport | 1p34.3 |
| OSER1 | - | 20q13.11 |
| OSER1-AS1 | - | - |
| OSGEP | tRNA processing; proteolysis | 14q11.2 |
| OSGEPL1 | proteolysis; tRNA processing | 2q32.2 |
| OSGIN1 | multicellular organismal development; cell differentiation; regulation of growth; negative regulation of cell growth | 16q23.3 |
| OSGIN2 | germ cell development; meiosis | 8q21 |
| OSM | response to heat; positive regulation of cell division; positive regulation of peptidyl-serine phosphorylation; regulation of growth; tyrosine phosphorylation of Stat3 protein; tyrosine phosphorylation of Stat5 protein; tyrosine phosphorylation of Stat1 protein; positive regulation of MAPK cascade; negative regulation of meiosis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of hormone secretion; behavioral response to pain; positive regulation of peptidyl-tyrosine phosphorylation; 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 | positive regulation of acute inflammatory response; cell surface receptor signaling pathway; cell proliferation; positive regulation of cell proliferation; response to cytokine stimulus | 5p13.1 |
| OSMR-AS1 | - | 5q15 |
| OSR1 | mesangial cell development; negative regulation of nephron tubule epithelial cell differentiation; odontogenesis; metanephric smooth muscle tissue development; metanephric epithelium development; ureter urothelium development; metanephric mesenchymal cell differentiation; renal vesicle progenitor cell differentiation; posterior mesonephric tubule development; negative regulation of transcription from RNA polymerase II promoter; urogenital system development; specification of anterior mesonephric tubule identity; embryonic digit morphogenesis; specification of posterior mesonephric tubule identity; embryonic hindlimb morphogenesis; positive regulation of gene expression; ureteric bud development; embryonic skeletal joint development; positive regulation of transcription from RNA polymerase II promoter; intermediate mesoderm development; embryonic skeletal limb joint morphogenesis; pronephros development; stem cell differentiation; positive regulation of gastrulation; positive regulation of epithelial cell prol | 2p24.1 |
| OSR2 | embryonic skeletal limb joint morphogenesis; positive regulation of cell proliferation; chondrocyte differentiation; mesonephros development; odontogenesis; middle ear morphogenesis; bone morphogenesis; embryonic hindlimb morphogenesis; metanephros development; embryonic forelimb morphogenesis; osteoblast proliferation; positive regulation of bone mineralization; cell differentiation; negative regulation of transcription from RNA polymerase II promoter; eyelid development in camera-type eye; embryonic skeletal joint development; embryo development; head development; embryonic skeletal joint morphogenesis; palate development; positive regulation of gene expression; positive regulation of epithelial cell proliferation; embryonic skeletal system morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; embryonic digit morphogenesis | 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 | citrulline biosynthetic process; liver development; urea cycle; response to biotin; protein homotrimerization; anion homeostasis; small molecule metabolic process; response to drug; cellular nitrogen compound metabolic process; response to insulin stimulus; response to nutrient levels; response to zinc ion; cellular amino acid biosynthetic process; midgut development; ornithine metabolic process; arginine biosynthetic process | Xp21.1 |
| OTOA | sensory perception of sound | 16p12.2|16p12.2 |
| OTOF | cellular membrane fusion; synaptic vesicle exocytosis; 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 | neurohypophysis development; positive regulation of neuroblast proliferation; forebrain neuron differentiation; hypothalamus cell differentiation; nervous system development; multicellular organismal development | 5q13.3 |
| OTUB2 | protein K48-linked deubiquitination; protein K63-linked deubiquitination; protein deubiquitination; cellular amino acid metabolic process; proteolysis | 14q32.12 |
| OTUD1 | - | 10p12.2 |
| OTUD3 | - | 1p36.13 |
| OTUD4 | - | 4q31.21 |
| OTUD5 | protein K48-linked deubiquitination; protein K63-linked deubiquitination; innate immune response; response to lipopolysaccharide; negative regulation of type I interferon production; proteolysis | Xp11.23 |
| OTUD6B | - | 8q21.3 |
| OTUD7A | proteolysis | 15q13.3 |
| OTUD7B | negative regulation of I-kappaB kinase/NF-kappaB cascade; proteolysis; protein deubiquitination | 1q21.2 |
| OTULIN | - | 5p15.2 |
| OTX1 | anterior/posterior pattern specification; inner ear morphogenesis; midbrain development; forebrain development; multicellular organismal development; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 2p13 |
| OTX2 | multicellular organismal development; positive regulation of gastrulation; primitive streak formation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of fibroblast growth factor receptor signaling pathway; positive regulation of embryonic development; midbrain development; forebrain development; regulation of smoothened signaling pathway; axon guidance; 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 | regulation of transcription, DNA-dependent; spermatogenesis; mesoderm development; skin development; pachytene; kidney development | 11q13 |
| OVOL2 | dorsal/ventral pattern formation; regulation of keratinocyte proliferation; neural crest cell migration; negative regulation of transcription by competitive promoter binding; negative regulation of keratinocyte differentiation; negative regulation of Notch signaling pathway; neural fold formation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; angiogenesis; embryonic digestive tract morphogenesis; regulation of cell cycle; endocardium formation; negative regulation of cell proliferation; heart development; heart looping; labyrinthine layer blood vessel development; heart trabecula formation | 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 | cellular response to glucose stimulus; cellular response to acid; adipose tissue development; ketone body catabolic process; cellular ketone body metabolic process; response to ethanol; small molecule metabolic process; cellular lipid metabolic process; response to starvation; positive regulation of insulin secretion; response to activity; response to hormone stimulus; response to nutrient; heart development; response to drug; brain development | 5p13.1 |
| OXCT1-AS1 | - | - |
| OXCT2 | metabolic process; ketone body catabolic process | 1p34 |
| OXER1 | regulation of cAMP biosynthetic process; G-protein coupled receptor signaling pathway | 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; short-chain fatty acid biosynthetic process; medium-chain fatty acid biosynthetic process | 3p24.2 |
| OXSR1 | intracellular protein kinase cascade; response to oxidative stress; protein phosphorylation | 3p22.2 |
| OXT | positive regulation of female receptivity; positive regulation of synaptic transmission; response to glucocorticoid stimulus; positive regulation of uterine smooth muscle contraction; negative regulation of gastric acid secretion; positive regulation of hindgut contraction; positive regulation of penile erection; male mating behavior; positive regulation of synapse assembly; social behavior; response to cAMP; response to electrical stimulus; regulation of sensory perception of pain; response to organic cyclic compound; signal transduction; elevation of cytosolic calcium ion concentration; heart development; female pregnancy; memory; grooming behavior; response to sucrose stimulus; positive regulation of norepinephrine secretion; positive regulation of blood pressure; response to activity; sleep; positive regulation of prostaglandin secretion; response to estradiol stimulus; response to retinoic acid; response to progesterone stimulus; response to prostaglandin E stimulus; maternal aggressive behavior; positiv | 20p13 |
| OXTR | positive regulation of blood pressure; digestive tract development; positive regulation of synapse assembly; positive regulation of synaptic transmission, glutamatergic; 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; response to amphetamine; response to peptide hormone stimulus; response to organic cyclic compound; positive regulation of norepinephrine secretion; memory; lactation; regulation of digestive system process; female pregnancy; heart development; elevation of cytosolic calcium ion concentration; cell surface receptor signaling pathway; muscle contraction; suckling behavior; telencephalon development; sleep; positive regulation of synaptic transmission, GABAergic; response to estradiol stimulus; response to progesterone stimulus; response to anoxia; response to cytokine stimulus; social behavior; response to cocaine; r | 3p25 |
| P2RX1 | response to stimulus; signal transduction; protein homooligomerization; protein heterooligomerization; regulation of calcium ion transport; calcium ion transmembrane transport; serotonin secretion by platelet; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of ion transport; insemination; blood coagulation; regulation of blood pressure; death; regulation of action potential in neuron; platelet activation; response to ATP; cation transport; ion transport; transport; regulation of vascular smooth muscle contraction; synaptic transmission, glutamatergic; purinergic nucleotide receptor signaling pathway; ceramide biosynthetic process | 17p13.3 |
| P2RX2 | cation transport; positive regulation of calcium ion transport into cytosol; purinergic nucleotide receptor signaling pathway; positive regulation of calcium-mediated signaling; protein homooligomerization | 12q24.33 |
| P2RX3 | protein homooligomerization; sensory perception of taste; response to stimulus; positive regulation of calcium-mediated signaling; behavioral response to pain; purinergic nucleotide receptor signaling pathway; regulation of synaptic plasticity; urinary bladder smooth muscle contraction; positive regulation of calcium ion transport into cytosol; response to carbohydrate stimulus; response to cold; response to heat; neuromuscular synaptic transmission; signal transduction; cation transport; transport; response to hypoxia; regulation of action potential in neuron; peristalsis; response to ATP | 11q12 |
| P2RX4 | 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; vasodilation; positive regulation of calcium-mediated signaling; regulation of apoptotic process; tissue homeostasis; regulation of sodium ion transport; transport; ion transport; response to stress; signal transduction; regulation of blood pressure; positive regulation of calcium ion transport into cytosol; negative regulation of cardiac muscle hypertrophy; regulation of action potential in neuron; sensory perception of pain; positive regulation of prostaglandin secretion; response to ATP; response to fluid shear stress; purinergic nucleotide receptor signaling pathway; endothelial cell activation; positive regulation of nitric oxide biosynthetic process | 12q24.32 |
| P2RX5 | 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; transport | 17p13.3 |
| P2RX6 | protein heterooligomerization; transport; ion transport; cation transport; muscle contraction; signal transduction; purinergic nucleotide receptor signaling pathway; protein homooligomerization | 22q11.21 |
| P2RX6P | - | 22q11.21 |
| P2RX7 | positive regulation of bone mineralization; regulation of sodium ion transport; ion transport; cell surface receptor signaling pathway; positive regulation of calcium ion transport into cytosol; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response; negative regulation of bone resorption; negative regulation of MAPK cascade; positive regulation of cytolysis; pore complex assembly; positive regulation of interleukin-1 beta secretion; positive regulation of cytoskeleton organization; regulation of killing of cells of other organism; membrane depolarization; regulation of apoptotic process; purinergic nucleotide receptor signaling pathway; response to ATP; bleb assembly; sensory perception of pain | 12q24 |
| P2RY1 | brain development; positive regulation of ion transport; eating behavior; positive regulation of hormone secretion; negative regulation of binding; positive regulation of penile erection; response to growth factor stimulus; elevation of cytosolic calcium ion concentration; cell surface receptor signaling pathway; 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; 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; aging; response to mechanical stimulus; blood coagulation | 3q25.2 |
| P2RY10 | - | Xq21.1 |
| P2RY12 | blood coagulation; hemostasis; protein kinase B signaling cascade; positive regulation of ion transport; platelet activation; G-protein signaling, coupled to cAMP nucleotide second messenger | 3q24-q25 |
| P2RY13 | - | 3q24 |
| P2RY2 | activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; cellular response to purine-containing compound; cellular response to interleukin-1; response to growth factor stimulus; positive regulation of penile erection; wound healing; cellular ion homeostasis; elevation of cytosolic calcium ion concentration; aging; embryo development; positive regulation of neuron projection development; positive regulation of smooth muscle cell migration; sensory perception of pain; negative regulation of ossification; positive regulation of prostaglandin secretion; positive regulation of chemokine production; regulation of vasodilation | 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 | cell growth; negative regulation of cell proliferation | 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 | lipoprotein metabolic process; cell redox homeostasis; small molecule 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 | mRNA metabolic process; negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; RNA metabolic process; gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; RNA splicing; mRNA stabilization; translational initiation; cellular protein metabolic process; translation; positive regulation of translation; mRNA polyadenylation; nuclear mRNA splicing, via spliceosome; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent 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 | virus-host interaction; termination of RNA polymerase II transcription; muscle contraction; RNA splicing; gene expression; poly(A)+ mRNA export from nucleus; mRNA processing; RNA processing; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; modulation by virus of host cellular process; viral infectious cycle; mRNA 3'-end processing; modification by virus of host mRNA processing | 14q11.2 |
| PABPN1L | - | 16q24.3 |
| PACRG | - | 6q26 |
| PACRG-AS1 | - | 6q26 |
| PACRGL | - | 4p15.31 |
| PACS1 | protein targeting to Golgi; protein targeting to plasma membrane; regulation of defense response to virus by virus; viral reproduction; positive regulation of protein binding; cellular protein localization; interspecies interaction between organisms | 11q13.1-q13.2 |
| PACS2 | apoptotic process; interspecies interaction between organisms; protein targeting to plasma membrane | 14q32.33 |
| PACSIN1 | negative regulation of endocytosis; protein phosphorylation; cytoskeleton organization; endocytosis | 6p21.3 |
| PACSIN2 | transport; negative regulation of endocytosis; actin cytoskeleton organization | 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; peptidyl-citrulline biosynthetic process from peptidyl-arginine; chromatin modification; protein modification process | 1p36.13 |
| PADI6 | protein modification process; peptidyl-citrulline biosynthetic process from peptidyl-arginine | 1p36.13 |
| PAEP | transport; multicellular organismal development | 9q34 |
| PAF1 | histone monoubiquitination; histone H2B ubiquitination; regulation of transcription, DNA-dependent | 19q13.1 |
| PAFAH1B1 | establishment of centrosome localization; neuromuscular process controlling balance; brain morphogenesis; cerebral cortex neuron differentiation; nuclear envelope disassembly; vesicle transport along microtubule; platelet activating factor metabolic process; positive regulation of mitotic cell cycle; positive regulation of axon extension; regulation of Rho GTPase activity; microtubule organizing center organization; cell differentiation; actin cytoskeleton organization; cerebral cortex development; retrograde axon cargo transport; stem cell division; neuron migration; acrosome assembly; mitotic cell cycle; mitotic prometaphase; microtubule cytoskeleton organization; establishment of mitotic spindle orientation; M phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; transport; adult locomotory behavior; negative regulation of neuron projection development; lipid catabolic process; transmission of nerve impulse; corpus callosum morphogenesis; hippocampus development; layer formation in cerebral c | 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 catabolic process; anti-apoptosis; lipid metabolic process | 1p36 |
| PAG1 | intracellular signal transduction; signal transduction; epidermal growth factor receptor signaling pathway; T cell receptor signaling pathway; negative regulation of T cell activation; regulation of T cell activation | 8q21.13 |
| PAGE1 | cellular defense response | Xp11.23 |
| PAGE2 | - | Xp11.21 |
| PAGE2B | - | Xp11.21 |
| PAGE4 | - | Xp11.23 |
| PAGE5 | - | Xp11.21 |
| PAGR1 | - | 16p11.2 |
| PAICS | nucleobase-containing small molecule metabolic process; purine nucleotide biosynthetic process; purine base metabolic process; 'de novo' IMP biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; purine base biosynthetic process; small molecule metabolic process | 4q12 |
| PAICSP1 | - | 9p13 |
| PAICSP3 | - | 6q13 |
| PAICSP4 | - | 8p23.2 |
| PAICSP5 | - | 7q35 |
| PAICSP6 | - | 7q35 |
| PAIP1 | positive regulation of translation; mRNA stabilization; translational initiation; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; RNA metabolic process; mRNA metabolic process | 5p12 |
| PAIP2 | negative regulation of translational initiation; regulation of translation | 5q31.2 |
| PAIP2B | negative regulation of translational initiation | 2p13.3 |
| PAK1 | negative regulation of cell proliferation involved in contact inhibition; 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; neuron projection morphogenesis; T cell receptor signaling pathway; positive regulation of stress fiber assembly | 11q13-q14 |
| PAK1IP1 | negative regulation of signal transduction | 6p24.2 |
| PAK2 | signal transduction; protein phosphorylation; negative regulation of protein kinase activity; apoptotic process; cellular component disassembly involved in apoptosis; positive regulation of extrinsic apoptotic signaling pathway; regulation of growth; regulation of apoptotic process; peptidyl-serine phosphorylation; phosphorylation; viral reproduction; axon guidance; negative regulation of apoptotic process; interspecies interaction between organisms; protein autophosphorylation; regulation of defense response to virus by virus; positive regulation of peptidyl-tyrosine phosphorylation; T cell receptor signaling pathway; positive regulation of protein tyrosine kinase activity; T cell costimulation; negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis | 3q29 |
| PAK3 | MAPK cascade; activation of MAPK activity; multicellular organismal development; axonogenesis; dendrite development; regulation of actin filament polymerization; synapse organization; dendritic spine morphogenesis | Xq23 |
| PAK4 | cellular component movement; apoptotic process; cell proliferation; cell growth; signal transduction; cell migration; protein phosphorylation; cytoskeleton organization; cell cycle | 19q13.2 |
| PAK6 | cytoskeleton organization; regulation of transcription, DNA-dependent; apoptotic process | 15q14 |
| PAK7 | cell growth; apoptotic process; anti-apoptosis; cytoskeleton organization; signal transduction; cell proliferation; cell migration | 20p12 |
| PALB2 | double-strand break repair via homologous recombination; DNA repair; DNA recombination | 16p12.2 |
| PALD1 | - | 10q22.1 |
| PALLD | cytoskeleton organization | 4q32.3 |
| PALM | protein localization; cellular component movement; cytoskeleton organization; regulation of cell shape; negative regulation of adenylate cyclase activity; 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; positive regulation of filopodium assembly | 19p13.3 |
| PALM2 | regulation of cell shape | 9q31.3 |
| PALM3 | response to lipopolysaccharide; Toll signaling pathway; negative regulation of cytokine-mediated signaling pathway | 19p13.12 |
| PALMD | regulation of cell shape | 1p22-p21 |
| PAM | central nervous system development; limb development; response to glucocorticoid stimulus; response to copper ion; response to drug; response to estradiol stimulus; response to pH; heart development; peptide metabolic process; protein modification process; response to hypoxia | 5q14-q21 |
| PAM16 | protein transport | 16p13.3 |
| PAMR1 | - | 11p13 |
| PAN2 | mRNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; RNA metabolic process; ubiquitin-dependent protein catabolic process; gene expression; nuclear-transcribed mRNA poly(A) tail shortening | 12q13.2 |
| PAN3 | RNA metabolic process; mRNA metabolic process; gene expression; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 13q12.2 |
| PAN3-AS1 | - | 13q12.2 |
| PANDAR | - | 6p21.2 |
| PANK1 | coenzyme A biosynthetic process; pantothenate metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; small molecule metabolic process; coenzyme biosynthetic process | 10q23.31 |
| PANK2 | vitamin metabolic process; pantothenate metabolic process; water-soluble vitamin metabolic process; cell death; coenzyme biosynthetic process; coenzyme A biosynthetic process; small molecule metabolic process | 20p13 |
| PANK3 | coenzyme A biosynthetic process | 5q34 |
| PANK4 | coenzyme A biosynthetic process | 1p36.32 |
| PANX1 | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response; positive regulation of interleukin-1 beta secretion; protein hexamerization; positive regulation of cytokine secretion; calcium ion transmembrane transport; positive regulation of interleukin-1 alpha secretion; cation transport; response to ATP; calcium ion transport; synaptic transmission | 11q21 |
| PANX2 | ion transport; synaptic transmission; protein hexamerization | 22q13.33 |
| PANX3 | protein hexamerization; cell-cell signaling; ion transport | 11q24.2 |
| PAOX | xenobiotic metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; polyamine metabolic process; polyamine biosynthetic process; polyamine catabolic process | 10q26.3 |
| PAPD4 | mRNA processing; RNA polyadenylation; histone mRNA catabolic process | 5q14.1 |
| PAPD5 | mitosis; DNA replication; cell division; histone mRNA catabolic process; cell cycle | 16q12.1 |
| PAPD7 | DNA replication; mitotic chromosome condensation; mitosis; sister chromatid cohesion; cell cycle; double-strand break repair; response to drug; cell division | 5p15 |
| PAPLN | - | 14q24.2 |
| PAPOLA | RNA polyadenylation; mRNA 3'-end processing; RNA splicing; nuclear mRNA splicing, via spliceosome; mRNA processing; transcription from RNA polymerase II promoter; mRNA polyadenylation; termination of RNA polymerase II transcription; gene expression | 14q32.31 |
| PAPOLB | transcription, DNA-dependent; mRNA processing; RNA polyadenylation | 7p22.1 |
| PAPOLG | mRNA processing; transcription, DNA-dependent; RNA polyadenylation | 2p16.1 |
| PAPPA | proteolysis; cell differentiation; metabolic process; female pregnancy | 9q33.2 |
| PAPPA-AS1 | - | 9q33.2 |
| PAPPA2 | regulation of cell growth; cell differentiation; proteolysis | 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 | sulfate assimilation; skeletal system development; xenobiotic metabolic process; small molecule metabolic process; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process | 10q24 |
| PAQR3 | - | 4q21.21 |
| PAQR4 | - | 16p13.3 |
| PAQR5 | oogenesis; cell differentiation; multicellular organismal development | 15q23 |
| PAQR6 | - | 1q22 |
| PAQR7 | oogenesis; cell differentiation; multicellular organismal development | 1p36.11 |
| PAQR8 | cell differentiation; oogenesis; multicellular organismal development | 6p12.1 |
| PAQR9 | - | 3q23 |
| PARD3 | protein targeting to membrane; protein complex assembly; cell cycle; axonogenesis; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; establishment of epithelial cell polarity; tight junction assembly; establishment or maintenance of cell polarity; cell-cell junction organization; cell junction assembly; asymmetric cell division | 10p11.21 |
| PARD3-AS1 | - | - |
| PARD3B | cell division; cell cycle | 2q33.3 |
| PARD6A | viral reproduction; cell cycle; cell junction assembly; cell-cell junction organization; cell-cell junction maintenance; cell division; tight junction assembly | 16q22.1 |
| PARD6B | cell-cell junction organization; tight junction assembly; cell division; cell junction assembly; regulation of cell migration; axonogenesis; establishment or maintenance of cell polarity; protein complex assembly; cell cycle; cell-cell junction assembly | 20q13.13 |
| PARD6G | cell junction assembly; cell cycle; cell-cell junction organization; cell division; tight junction assembly | 18q23 |
| PARD6G-AS1 | - | 18q23 |
| PARG | detection of bacterium; positive regulation of DNA repair; metabolic process; response to DNA damage stimulus; carbohydrate metabolic process | 10q11.23 |
| PARGP1 | - | 10q11.23 |
| PARK2 | protein polyubiquitination; dopamine metabolic process; mitochondrion degradation; negative regulation of protein phosphorylation; startle response; ubiquitin-dependent protein catabolic process; protein monoubiquitination; central nervous system development; learning; cell death; adult locomotory behavior; regulation of autophagy; protein metabolic process; negative regulation of actin filament bundle assembly; synaptic transmission, glutamatergic; norepinephrine metabolic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; 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; protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 6q25.2-q27 |
| PARK7 | regulation of androgen receptor signaling pathway; autophagy; cellular response to hydrogen peroxide; proteolysis; positive regulation of oxidative phosphorylation uncoupler activity; negative regulation of extrinsic apoptotic signaling pathway; response to drug; single fertilization; cellular response to oxidative stress; hydrogen peroxide metabolic process; neuroprotection; regulation of inflammatory response; negative regulation of protein binding; protein stabilization; dopamine uptake; membrane depolarization; oxidation-reduction process; mitochondrion organization; membrane hyperpolarization; negative regulation of cell death; adult locomotory behavior | 1p36.23 |
| PARL | proteolysis | 3q27.1 |
| PARM1 | positive regulation of telomerase activity | 4q13.3-q21.3 |
| PARN | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA poly(A) tail shortening; mRNA catabolic process; female gamete generation; RNA modification; gene expression; RNA metabolic process; mRNA metabolic process; nucleic acid phosphodiester bond hydrolysis | 16p13 |
| PARP1 | protein poly-ADP-ribosylation; DNA damage response, detection of DNA damage; regulation of growth rate; cellular response to insulin stimulus; protein autoprocessing; protein ADP-ribosylation; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; base-excision repair; DNA repair; telomere maintenance | 1q41-q42 |
| PARP10 | regulation of chromatin assembly; protein poly-ADP-ribosylation; negative regulation of fibroblast proliferation | 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 | base-excision repair; DNA repair; protein ADP-ribosylation; metabolic process | 14q11.2-q12 |
| PARP3 | DNA repair; protein ADP-ribosylation | 3p21.31-p21.1 |
| PARP4 | response to drug; protein ADP-ribosylation; protein modification process; DNA repair; transport; inflammatory response; response to DNA damage stimulus; cell death | 13q11 |
| PARP4P1 | - | Yq11.23 |
| PARP4P2 | - | 13q12.11 |
| PARP6 | - | 15q23 |
| PARP8 | - | 5q11.1 |
| PARP9 | regulation of response to interferon-gamma; cell migration | 3q21 |
| PARPBP | negative regulation of double-strand break repair via homologous recombination; DNA repair | 12q23.2 |
| PARS2 | tRNA aminoacylation for protein translation; gene expression; prolyl-tRNA aminoacylation | 1p32.2 |
| PART1 | - | 5q12.1 |
| PARTICL | - | - |
| PARVA | cell adhesion; cilium morphogenesis; protein heterooligomerization; cell junction assembly; actin cytoskeleton organization; cell projection organization | 11p15.3 |
| PARVB | cell adhesion; cell junction assembly | 22q13.2-q13.33 |
| PARVG | cell-matrix adhesion; cell adhesion | 22q13.31 |
| PASD1 | - | Xq28 |
| PASK | protein phosphorylation; negative regulation of glycogen biosynthetic process; regulation of energy homeostasis; positive regulation of translation; regulation of glucagon secretion; protein autophosphorylation; regulation of respiratory gaseous exchange | 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; T cell differentiation; negative regulation of transcription, DNA-dependent; spermatogenesis; positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 22q12.2 |
| PAUPAR | - | 11p13 |
| PAWR | apoptotic process; induction of apoptosis; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; actin filament bundle assembly; negative regulation of cell proliferation; negative regulation of B cell proliferation; interleukin-2 biosynthetic process; negative regulation of T cell proliferation; positive regulation of amyloid precursor protein biosynthetic process; positive regulation of apoptotic process; negative regulation of T cell receptor signaling pathway | 12q21 |
| PAX1 | parathyroid gland development; skeletal system development; somitogenesis; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; pattern specification process; CD4-positive, alpha-beta T cell differentiation; CD8-positive, alpha-beta T cell differentiation; positive regulation of transcription from RNA polymerase II promoter; thymus development; bone morphogenesis; sclerotome development | 20p11.2 |
| PAX2 | stem cell differentiation; positive regulation of transcription, DNA-dependent; negative regulation of cytolysis; positive regulation of transcription from RNA polymerase II promoter; pronephros development; brain morphogenesis; metanephric mesenchyme development; ureter maturation; mesodermal cell fate specification; visual perception; glial cell differentiation; optic nerve development; optic nerve morphogenesis; optic nerve structural organization; vestibulocochlear nerve formation; regulation of metanephros size; negative regulation of transcription, DNA-dependent; pronephric field specification; inner ear morphogenesis; camera-type eye development; negative regulation of apoptotic process; negative regulation of programmed cell death; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; protein kinase B signaling cascade; metanephric epithelium development; positive regulation of metanephric DCT cell differentiation; negative regulation of reactive oxygen species met | 10q24 |
| PAX3 | neural crest cell migration; mammary gland specification; neuron fate commitment; developmental pigmentation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; neural tube development; spinal cord association neuron differentiation; cell migration; organ morphogenesis; positive regulation of cell proliferation; sensory perception of sound; muscle organ development; heart development; multicellular organismal development; apoptotic process; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; neural tube closure; negative regulation of transcription from RNA polymerase II promoter | 2q35 |
| PAX4 | multicellular organismal development; endocrine pancreas development; cell differentiation; organ morphogenesis | 7q32 |
| PAX5 | negative regulation of histone H3-K9 methylation; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; humoral immune response; multicellular organismal development; spermatogenesis; nervous system development; organ morphogenesis; cell differentiation | 9p13 |
| PAX6 | eye development; cornea development in camera-type eye; iris morphogenesis; negative regulation of neurogenesis; neuron fate commitment; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; glucose homeostasis; cell differentiation; protein ubiquitination; positive regulation of gene expression; response to wounding; organ morphogenesis; blood vessel 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 | 11p13 |
| PAX7 | muscle tissue morphogenesis; cartilage development; multicellular organismal development; embryonic skeletal system development; neuron fate commitment; skeletal muscle tissue regeneration; dorsal/ventral neural tube patterning; spinal cord association neuron differentiation; satellite cell commitment; anatomical structure morphogenesis; skeletal muscle tissue development; anti-apoptosis; regulation of transcription, DNA-dependent | 1p36.13 |
| PAX8 | positive regulation of thyroid hormone generation; metanephric comma-shaped body morphogenesis; pronephros development; cellular response to gonadotropin stimulus; otic vesicle development; positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; mesonephric tubule development; metanephric collecting duct development; metanephric epithelium development; metanephric distal convoluted tubule development; urogenital system development; 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 morphogenesis; positive regulation of metanephric DCT cell differentiation; regulation of thyroid-stimulating hormone secretion; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA poly | 2q13 |
| PAX8-AS1 | - | 2q13 |
| PAX9 | cellular response to growth factor stimulus; regulation of transcription, DNA-dependent; face morphogenesis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; regulation of odontogenesis; endoderm development; multicellular organismal development | 14q13.3 |
| PAXBP1 | - | 21q21.3 |
| PAXBP1-AS1 | - | - |
| PAXIP1 | DNA repair; positive regulation of histone H3-K36 methylation; DNA recombination; regulation of transcription, DNA-dependent; positive regulation of histone acetylation; response to ionizing radiation; positive regulation of transcription initiation from RNA polymerase II promoter; DNA damage response, signal transduction by p53 class mediator; positive regulation of histone H3-K4 methylation; histone H3-K4 methylation; positive regulation of isotype switching; positive regulation of protein ubiquitination | 7q36 |
| PAXIP1-AS1 | - | 7q36.2 |
| PBDC1 | - | Xq13.3 |
| PBK | protein phosphorylation; mitosis | 8p21.2 |
| PBLD | biosynthetic process | 10q21.3 |
| PBRM1 | negative regulation of cell proliferation; mitosis; chromatin remodeling; regulation of transcription, DNA-dependent | 3p21 |
| PBX1 | cell differentiation; embryonic skeletal system development; thymus development; spleen development; positive regulation of transcription from RNA polymerase II promoter; negative regulation of neuron differentiation; negative regulation of sequence-specific DNA binding transcription factor activity; embryonic hemopoiesis; embryonic limb morphogenesis; adrenal gland development; regulation of ossification; proximal/distal pattern formation; anterior/posterior pattern specification; organ morphogenesis; positive regulation of cell proliferation; sex differentiation; steroid biosynthetic process; regulation of transcription, DNA-dependent; branching involved in ureteric bud morphogenesis; urogenital system development | 1q23 |
| PBX2 | embryonic limb morphogenesis; positive regulation of transcription from RNA polymerase II promoter; proximal/distal pattern formation | 6p21.3 |
| PBX2P1 | - | 3q24 |
| PBX3 | regulation of respiratory gaseous exchange by neurological system process; anterior compartment pattern formation; posterior compartment specification; respiratory gaseous exchange; adult locomotory behavior; dorsal spinal cord development; neuron development | 9q33.3 |
| PBX4 | transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent | 19p12 |
| PBXIP1 | cell differentiation; negative regulation of transcription, DNA-dependent; multicellular organismal development | 1q21.3 |
| PC | lipid biosynthetic process; small molecule metabolic process; oxaloacetate metabolic process; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process; pyruvate metabolic process | 11q13.4-q13.5 |
| PCA3 | - | 9q21.2 |
| PCAT1 | - | 8q24.21 |
| PCAT18 | - | 18q11.2 |
| PCAT19 | - | - |
| PCAT4 | - | 4q21.1 |
| PCAT6 | - | - |
| PCBD1 | L-phenylalanine catabolic process; tetrahydrobiopterin biosynthetic process; cellular nitrogen compound metabolic process; regulation of protein homodimerization activity; small molecule metabolic process; positive regulation of transcription, DNA-dependent; protein homotetramerization; protein heterooligomerization; oxidation-reduction process | 10q22 |
| PCBD2 | oxidation-reduction process; tetrahydrobiopterin biosynthetic process; positive regulation of transcription, DNA-dependent; protein homotetramerization; protein heterooligomerization | 5q31.1 |
| PCBP1 | nuclear mRNA splicing, via spliceosome; mRNA metabolic process; gene expression; RNA splicing | 2p13-p12 |
| PCBP1-AS1 | - | 2p14 |
| PCBP2 | nuclear mRNA splicing, via spliceosome; RNA splicing; response to virus; gene expression; mRNA metabolic process; negative regulation of type I interferon production; proteasomal ubiquitin-dependent protein catabolic process; innate immune response; negative regulation of defense response to virus | 12q13.12-q13.13 |
| PCBP2P2 | - | 8q21-q22 |
| PCBP3 | mRNA metabolic process | 21q22.3 |
| PCBP3-OT1 | - | 21q22.3 |
| PCBP4 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; cell cycle arrest; DNA damage response, signal transduction resulting in induction of apoptosis | 3p21 |
| PCCA | short-chain fatty acid catabolic process; fatty acid beta-oxidation; small molecule metabolic process; cellular lipid metabolic process | 13q32 |
| PCCB | small molecule metabolic process; cellular lipid metabolic process; short-chain fatty acid catabolic process; fatty acid beta-oxidation | 3q21-q22 |
| PCDH1 | nervous system development; cell-cell signaling; homophilic cell adhesion; cell adhesion | 5q31.3 |
| PCDH10 | homophilic cell adhesion; cell adhesion | 4q28.3 |
| PCDH11X | negative regulation of phosphatase activity; homophilic cell adhesion; cell adhesion | Xq21.3 |
| PCDH11Y | cell adhesion; homophilic cell adhesion | Yp11.2 |
| PCDH12 | cell adhesion; neuron recognition; homophilic cell adhesion | 5q31 |
| PCDH15 | cell adhesion; homophilic cell adhesion; sensory perception of sound; photoreceptor cell maintenance; sensory perception of light stimulus; equilibrioception | 10q21.1 |
| PCDH17 | cell adhesion; homophilic cell adhesion | 13q21.1 |
| PCDH18 | brain development; cell adhesion; homophilic cell adhesion | 4q31 |
| PCDH19 | homophilic cell adhesion; cell adhesion | Xq22.1 |
| PCDH20 | cell adhesion; homophilic cell adhesion | 13q21 |
| PCDH7 | homophilic cell adhesion; cell adhesion | 4p15 |
| PCDH8 | cell adhesion; somitogenesis; homophilic cell adhesion; cell-cell signaling; synaptic transmission; morphogenesis of embryonic epithelium | 13q21.1 |
| PCDH8P1 | - | 13q14.3 |
| PCDH9 | cell adhesion; homophilic 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; homophilic cell adhesion; nervous system development | 5q31 |
| PCDHA11 | cell adhesion; homophilic cell adhesion; nervous system development | 5q31 |
| PCDHA12 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHA14 | - | 5q31 |
| PCDHA2 | nervous system development; cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHA3 | nervous system development; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHA4 | nervous system development; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHA5 | nervous system development; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHA6 | nervous system development; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHA7 | nervous system development; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHA8 | nervous system development; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHA9 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHAC1 | homophilic cell adhesion; cell adhesion; nervous system development | 5q31 |
| PCDHAC2 | nervous system development; cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHB10 | homophilic cell adhesion; synaptic transmission; calcium-dependent cell-cell adhesion; cell adhesion; synapse assembly | 5q31 |
| PCDHB11 | cell adhesion; homophilic cell adhesion; calcium-dependent cell-cell adhesion; nervous system development; synaptic transmission; synapse assembly | 5q31 |
| PCDHB12 | cell adhesion; homophilic cell adhesion; nervous system development | 5q31 |
| PCDHB13 | synaptic transmission; homophilic cell adhesion; cell adhesion; calcium-dependent cell-cell adhesion; synapse assembly | 5q31 |
| PCDHB14 | cell adhesion; homophilic cell adhesion; calcium-dependent cell-cell adhesion; synaptic transmission; synapse assembly | 5q31 |
| PCDHB15 | nervous system development; homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB16 | calcium-dependent cell-cell adhesion; synapse assembly; homophilic cell adhesion; synaptic transmission; cell adhesion | 5q31 |
| PCDHB17P | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHB18P | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHB19P | - | 5q31 |
| PCDHB2 | homophilic cell adhesion; cell adhesion; synaptic transmission; nervous system development; synapse assembly; calcium-dependent cell-cell adhesion | 5q31 |
| PCDHB3 | cell adhesion; homophilic cell adhesion; synaptic transmission; nervous system development; synapse assembly; calcium-dependent cell-cell adhesion | 5q31 |
| PCDHB4 | synapse assembly; cell adhesion; homophilic cell adhesion; synaptic transmission; calcium-dependent cell-cell adhesion; nervous system development | 5q31 |
| PCDHB5 | cell adhesion; homophilic cell adhesion; synaptic transmission; calcium-dependent cell-cell adhesion; synapse assembly | 5q31 |
| PCDHB6 | synapse assembly; cell adhesion; homophilic cell adhesion; synaptic transmission; nervous system development; calcium-dependent cell-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; synapse assembly; calcium-dependent cell-cell adhesion; cell adhesion; synaptic transmission | 5q31 |
| PCDHGA1 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGA10 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGA11 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGA12 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGA2 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGA3 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGA4 | cell adhesion; homophilic 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 | cell adhesion; homophilic cell adhesion; calcium-dependent cell-cell adhesion | 5q31 |
| PCDHGB5 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGB6 | homophilic cell adhesion; cell adhesion | 5q31 |
| PCDHGB7 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGB8P | - | 5q31 |
| PCDHGC3 | cell adhesion; calcium-dependent cell-cell adhesion; homophilic cell adhesion | 5q31 |
| PCDHGC4 | cell adhesion; homophilic cell adhesion | 5q31 |
| PCED1A | - | 20p13 |
| PCED1B | - | 12q13.11 |
| PCED1B-AS1 | - | 12q13.11 |
| PCF11 | transcription from RNA polymerase II promoter; mRNA processing; mRNA cleavage; RNA splicing; nuclear mRNA splicing, via spliceosome; termination of RNA polymerase II transcription; gene expression; mRNA 3'-end processing | 11q13 |
| PCGF1 | regulation of transcription, DNA-dependent; histone H2A monoubiquitination | 2p13.1 |
| PCGF2 | anterior/posterior pattern specification; histone acetylation; regulation of transcription, DNA-dependent; in utero embryonic development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process; embryonic skeletal system morphogenesis | 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 | spleen development; positive regulation of transcription, DNA-dependent; regulation of mRNA stability; positive regulation of mitotic cell cycle spindle assembly checkpoint; positive regulation of B cell differentiation; negative regulation of apoptotic process; negative regulation of cysteine-type endopeptidase activity | 13q34 |
| PCIF1 | negative regulation of phosphatase activity | 20q13.12 |
| PCK1 | carbohydrate metabolic process; gluconeogenesis; response to activity; response to insulin stimulus; glucose homeostasis; small molecule metabolic process; glycerol biosynthetic process from pyruvate; lipid metabolic process; internal protein amino acid acetylation; oxaloacetate metabolic process; glucose metabolic process | 20q13.31 |
| PCK2 | response to glucocorticoid stimulus; small molecule metabolic process; oxaloacetate metabolic process; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process | 14q11.2 |
| PCLO | synaptic vesicle exocytosis; cytoskeleton organization | 7q11.23-q21.3 |
| PCM1 | protein localization to centrosome; cell projection organization; microtubule anchoring; G2/M transition of mitotic cell cycle; mitotic cell cycle; interkinetic nuclear migration; centrosome organization; negative regulation of neurogenesis; cilium assembly | 8p22-p21.3 |
| PCMT1 | protein methylation; S-adenosylmethionine metabolic process; protein modification process; protein repair; S-adenosylhomocysteine metabolic process | 6q24-q25 |
| PCMTD1 | protein modification process | 8q11.23 |
| PCMTD1P2 | - | 16p11.2 |
| PCMTD2 | protein modification process | 20q13.33 |
| PCNA | regulation of DNA replication; intracellular protein transport; mismatch repair; nucleotide-excision repair, DNA gap filling; base-excision repair, gap-filling; base-excision repair; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; DNA strand elongation involved in DNA replication; DNA replication; telomere maintenance; telomere maintenance via recombination; mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; 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; cell proliferation; translesion synthesis; positive regulation of deoxyribonuclease activity; heart development; telomere maintenance via semi-conservative replication; response to lipid; response to cadmium ion; phosphatidylinositol-mediated signaling | 20pter-p12 |
| PCNAP3 | - | Xp11.3 |
| PCNP | cell cycle; protein ubiquitination; proteasomal ubiquitin-dependent protein catabolic process | 3q12.3 |
| PCNPP3 | - | 12q14.3 |
| PCNPP5 | - | 13q14.2 |
| PCNT | cilium assembly; neural precursor cell proliferation; brain morphogenesis; multicellular organism growth; limb morphogenesis; olfactory bulb development; cerebellar cortex morphogenesis; apoptotic process; neuron migration; in utero embryonic development; mitotic cell cycle; spindle organization; microtubule cytoskeleton organization; G2/M transition of mitotic cell cycle | 21q22.3 |
| PCNX | - | 14q24.2 |
| PCNXL2 | - | 1q42.2 |
| PCNXL3 | - | 11q13.1 |
| PCNXL4 | - | 14q23.1 |
| PCOLCE | multicellular organismal development; positive regulation of peptidase activity; proteolysis | 7q22 |
| PCOLCE-AS1 | - | 7q22.1 |
| PCOLCE2 | positive regulation of peptidase activity | 3q21-q24 |
| PCP2 | signal transduction; regulation of catalytic activity | 19p13.2 |
| PCP4 | central nervous system development | 21q22.2 |
| PCP4L1 | - | 1q23.3 |
| PCSK1 | response to lipopolysaccharide; cellular nitrogen compound metabolic process; response to drug; peptide biosynthetic process; response to interleukin-1; response to peptide hormone stimulus; small molecule metabolic process; response to axon injury; positive regulation of protein secretion; regulation of insulin secretion; response to glucocorticoid stimulus; response to calcium ion; response to fatty acid; response to morphine; pancreas development; 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; protein autoprocessing; pituitary gland development; neurogenesis | 5q15-q21 |
| PCSK1N | negative regulation of endopeptidase activity; response to cold; peptide hormone processing; brain development; neuropeptide signaling pathway; response to dietary excess | 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; fertilization; sperm capacitation | 19p13.3 |
| PCSK5 | embryo implantation; kidney development; renin secretion into blood stream; signal peptide processing; proteolysis; cell-cell signaling; embryonic skeletal system development; embryonic digestive tract development; nerve growth factor receptor signaling pathway; peptide biosynthetic process; cytokine biosynthetic process; limb morphogenesis; nerve growth factor processing; heart development; anterior/posterior pattern specification; protein processing; peptide hormone processing; viral assembly, maturation, egress, and release; respiratory tube development | 9q21.3 |
| PCSK6 | regulation of BMP signaling pathway; nerve growth factor receptor signaling pathway; secretion by cell; proteolysis; zygotic determination of anterior/posterior axis, embryo; determination of left/right symmetry; glycoprotein metabolic process; protein processing; peptide hormone processing; nerve growth factor production; nerve growth factor processing | 15q26.3 |
| PCSK7 | peptide hormone processing; proteolysis | 11q23-q24 |
| PCSK9 | cellular response to insulin stimulus; regulation of low-density lipoprotein particle receptor catabolic process; low-density lipoprotein particle receptor catabolic process; neuron differentiation; neurogenesis; steroid metabolic process; lysosomal transport; regulation of receptor activity; protein autoprocessing; positive regulation of neuron apoptosis; negative regulation of catalytic activity; cholesterol homeostasis; lipoprotein metabolic process; triglyceride metabolic process; proteolysis; positive regulation of receptor internalization; liver development; negative regulation of low-density lipoprotein particle clearance; kidney development; cholesterol metabolic process; cellular response to starvation; phospholipid metabolic process; negative regulation of receptor recycling; induction of apoptosis | 1p32.3 |
| PCTP | lipid transport; cholesterol metabolic process; phospholipid transport; transport | 17q21-q24 |
| PCYOX1 | prenylcysteine metabolic process; chloride transport; prenylated protein catabolic process; prenylcysteine catabolic process | 2p13.3 |
| PCYOX1L | prenylcysteine catabolic process | 5q32 |
| PCYT1A | biosynthetic process; phospholipid biosynthetic process; CDP-choline pathway; response to abiotic stimulus | 3q29 |
| PCYT1B | phospholipid biosynthetic process; ovarian follicle development; phosphatidylcholine biosynthetic process; biosynthetic process; spermatogenesis; CDP-choline pathway | Xp22.11 |
| PCYT2 | phospholipid biosynthetic process; biosynthetic process | 17q25.3 |
| PDAP1 | signal transduction; cell proliferation | 7q22.1 |
| PDCD1 | apoptotic process; humoral immune response; multicellular organismal development; signal transduction; peptidyl-tyrosine dephosphorylation; T cell costimulation | 2q37.3 |
| PDCD10 | angiogenesis; negative regulation of apoptotic process; positive regulation of cell proliferation; positive regulation of MAP kinase activity | 3q26.1 |
| PDCD11 | mRNA processing; rRNA processing | 10q24.33 |
| PDCD1LG2 | peptidyl-tyrosine dephosphorylation; T cell costimulation; immune response; negative regulation of T cell proliferation; positive regulation of T cell proliferation | 9p24.2 |
| PDCD2 | apoptotic process | 6q27 |
| PDCD2L | cell cycle | 19q13.11 |
| PDCD4 | cell aging; negative regulation of transcription, DNA-dependent; negative regulation of cell cycle; negative regulation of JUN kinase activity; apoptotic process | 10q24 |
| PDCD4-AS1 | - | 10q25.2 |
| PDCD5 | apoptotic process; induction of apoptosis | 19q13.11 |
| PDCD6 | response to calcium ion; intracellular protein transport; induction of apoptosis by extracellular signals; cellular response to stress; activation of cysteine-type endopeptidase activity involved in apoptotic process | 5p15.33 |
| PDCD6IP | interspecies interaction between organisms; apoptotic process; cell cycle; cell division; protein transport | 3p22.3 |
| PDCD6IPP2 | - | 15q13.1 |
| PDCD7 | response to glucocorticoid stimulus; RNA splicing; induction of apoptosis; apoptotic process | 15q22.31 |
| PDCL | signal transduction; visual perception; response to stimulus | 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 | signal transduction; blood coagulation | 6q26 |
| PDE11A | cGMP catabolic process; blood coagulation; signal transduction; cAMP catabolic process | 2q31.2 |
| PDE12 | - | 3p14.3 |
| PDE1A | signal transduction; epidermal growth factor receptor signaling pathway; activation of phospholipase C activity; blood coagulation; fibroblast growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway | 2q32.1 |
| PDE1B | cellular response to granulocyte macrophage colony-stimulating factor stimulus; response to amphetamine; nerve growth factor receptor signaling pathway; cGMP catabolic process; 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; locomotory behavior; blood coagulation; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; signal transduction; apoptotic process; cAMP catabolic process; regulation of neurotransmitter levels | 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 | negative regulation of transcription from RNA polymerase II promoter; cAMP catabolic process; cellular response to granulocyte macrophage colony-stimulating factor stimulus; 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; negative regulation of vascular permeability; cellular response to macrophage colony-stimulating factor stimulus; negative regulation of protein import into nucleus, translocation; negative regulation of cAMP biosynthetic process; monocyte differentiation; cGMP-mediated signaling; cAMP-mediated signaling; metabolic process; blood coagulation; signal transduction; protein targeting to mitochondrion; cellular response to drug | 11q13.4 |
| PDE3A | regulation of meiosis; response to drug; negative regulation of apoptotic process; negative regulation of vascular permeability; positive regulation of vascular permeability; response to cAMP; positive regulation of oocyte development; cellular response to cGMP; cellular response to transforming growth factor beta stimulus; signal transduction; cGMP-mediated signaling; cAMP-mediated signaling; blood coagulation; lipid metabolic process; cAMP catabolic process; oocyte maturation | 12p12 |
| PDE3B | negative regulation of lipid catabolic process; negative regulation of insulin secretion; negative regulation of cAMP-mediated signaling; glucose homeostasis; negative regulation of cell adhesion mediated by integrin; cellular response to insulin stimulus; endocrine pancreas development; insulin receptor signaling pathway; blood coagulation; signal transduction; negative regulation of cell adhesion; cAMP catabolic process | 11p15.1 |
| PDE4A | cAMP catabolic process; signal transduction; response to drug | 19p13.2 |
| PDE4B | cAMP catabolic process; signal transduction | 1p31 |
| PDE4C | cAMP catabolic process; signal transduction; negative regulation of insulin secretion | 19p13.11 |
| PDE4D | cAMP catabolic process; signal transduction; establishment of endothelial barrier | 5q12 |
| PDE4DIP | cellular protein complex assembly | 1q12 |
| PDE5A | negative regulation of T cell proliferation; vasodilation; response to testosterone stimulus; response to lipopolysaccharide; positive regulation of cardiac muscle hypertrophy; cyclic nucleotide metabolic process; short-term memory; blood coagulation; nervous system development; signal transduction; positive regulation of chronic inflammatory response; regulation of the force of heart contraction; response to hypoxia; positive regulation of oocyte development; relaxation of cardiac muscle; negative regulation of cardiac muscle contraction; cGMP catabolic process; positive regulation of vasoconstriction; positive regulation of MAP kinase activity; positive regulation of apoptotic process | 4q27 |
| PDE6A | cytosolic calcium ion homeostasis; signal transduction; blood coagulation; visual perception; GMP metabolic process; response to stimulus; retina development in camera-type eye | 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 | signal transduction; phototransduction, visible light; visual perception; response to stimulus; retinal cone cell development | 10q24 |
| PDE6D | visual perception; regulation of GTP catabolic process; negative regulation of catalytic activity; response to stimulus | 2q35-q36 |
| PDE6G | positive regulation of epidermal growth factor receptor signaling pathway; response to stimulus; positive regulation of G-protein coupled receptor protein signaling pathway; negative regulation of catalytic activity; visual perception; blood coagulation; activation of MAPK activity | 17q25 |
| PDE7A | cAMP-mediated signaling; signal transduction | 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 | signal transduction; blood coagulation | 21q22.3 |
| PDF | N-terminal protein amino acid modification; peptidyl-methionine modification; positive regulation of cell proliferation; translation | 16q22.1 |
| PDGFA | positive regulation of protein kinase B signaling cascade; positive regulation of MAPK cascade; skin development; positive regulation of DNA replication; regulation of peptidyl-tyrosine phosphorylation; negative chemotaxis; positive regulation of cell division; regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling; positive regulation of ERK1 and ERK2 cascade; regulation of glomerular mesangial cell proliferation; regulation of DNA biosynthetic process; embryo development; cell activation; negative regulation of platelet activation; negative regulation of phosphatidylinositol biosynthetic process; response to inorganic substance; response to organic substance; platelet-derived growth factor receptor signaling pathway; positive regulation of fibroblast proliferation; lung alveolus development; inner ear development; angiogenesis; response to hypoxia; response to drug; hair follicle development; positive regulation of mesenchymal cell proliferation; platelet degran | 7p22 |
| PDGFB | response to hypoxia; embryonic placenta development; positive regulation of endothelial cell proliferation; monocyte chemotaxis; platelet degranulation; positive regulation of glomerular filtration; protein phosphorylation; transforming growth factor beta receptor signaling pathway; multicellular organismal development; heart development; positive regulation of cyclin-dependent protein kinase activity; positive regulation of smooth muscle cell migration; response to insulin stimulus; response to estradiol stimulus; activation of protein kinase B activity; activation of protein kinase activity; positive regulation of protein autophosphorylation; positive regulation of cell migration; platelet activation; hemopoiesis; peptidyl-tyrosine phosphorylation; peptidyl-serine phosphorylation; cell growth; positive regulation of metanephric mesenchymal cell migration; platelet-derived growth factor receptor signaling pathway; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA- | 22q13.1 |
| PDGFC | vascular endothelial growth factor receptor signaling pathway; positive regulation of cell division; positive regulation of fibroblast proliferation; platelet-derived growth factor receptor signaling pathway; multicellular organismal development; central nervous system development; positive regulation of DNA replication | 4q32 |
| PDGFD | multicellular organismal development; regulation of peptidyl-tyrosine phosphorylation; positive regulation of cell division; cellular response to amino acid stimulus | 11q22.3 |
| PDGFRA | face morphogenesis; regulation of actin cytoskeleton reorganization; palate development; response to hyperoxia; cardiac myofibril assembly; regulation of chemotaxis; inner ear development; embryonic skeletal system 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; platelet-derived growth factor receptor-alpha signaling pathway; regulation of mesenchymal stem cell differentiation; response to inorganic substance; adrenal gland development; 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; embryonic digestive tract morphogenesis; response to hormone stimulus; female gonad deve | 4q12 |
| PDGFRB | in utero embryonic development; cardiac myofibril assembly; positive regulation of mitosis; phosphatidylinositol metabolic process; protein autophosphorylation; platelet-derived growth factor receptor signaling pathway; vascular endothelial growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; positive regulation of smooth muscle cell proliferation; skeletal system morphogenesis; smooth muscle tissue development; regulation of peptidyl-tyrosine phosphorylation; positive regulation of chemotaxis; kidney development; cell chemotaxis; cell migration involved in coronary angiogenesis; 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 biosynthet | 5q33.1 |
| PDGFRL | platelet-derived growth factor receptor-beta signaling pathway | 8p22-p21.3 |
| PDHA1 | pyruvate metabolic process; glycolysis; metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; small molecule metabolic process | Xp22.1 |
| PDHB | regulation of acetyl-CoA biosynthetic process from pyruvate; tricarboxylic acid cycle; glycolysis; pyruvate metabolic process; small molecule metabolic process | 3p21.1-p14.2 |
| PDHX | pyruvate metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; small molecule metabolic process | 11p13 |
| PDIA2 | protein retention in ER lumen; apoptotic process; response to hypoxia; protein folding; cell redox homeostasis; glycerol ether metabolic process | 16p13.3 |
| PDIA3 | positive regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; protein folding; protein import into nucleus; protein retention in ER lumen; glycerol ether metabolic process; signal transduction; protein N-linked glycosylation via asparagine; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I; post-translational protein modification; cellular protein metabolic process; cell redox homeostasis | 15q15 |
| PDIA3P1 | - | 1q21.1 |
| PDIA4 | cell redox homeostasis; protein secretion; glycerol ether metabolic process | 7q35 |
| PDIA6 | endoplasmic reticulum unfolded protein response; protein folding; cell redox homeostasis; glycerol ether metabolic process; activation of signaling protein activity involved in unfolded protein response | 2p25.1 |
| PDIK1L | - | 1p36.11 |
| PDK1 | regulation of acetyl-CoA biosynthetic process from pyruvate; peptidyl-histidine phosphorylation; small molecule metabolic process; carbohydrate metabolic process; glucose metabolic process; pyruvate metabolic process; protein phosphorylation; cell surface receptor signaling pathway; small GTPase mediated signal transduction | 2q31.1 |
| PDK2 | glucose metabolic process; carbohydrate metabolic process; pyruvate metabolic process; protein phosphorylation; regulation of acetyl-CoA biosynthetic process from pyruvate; peptidyl-histidine phosphorylation; small molecule metabolic process | 17q21.33 |
| PDK3 | carbohydrate metabolic process; glucose metabolic process; pyruvate metabolic process; protein phosphorylation; regulation of acetyl-CoA biosynthetic process from pyruvate; peptidyl-histidine phosphorylation; small molecule metabolic process | Xp22.11 |
| PDK4 | carbohydrate metabolic process; pyruvate metabolic process; protein phosphorylation; regulation of acetyl-CoA biosynthetic process from pyruvate; peptidyl-histidine phosphorylation; small molecule metabolic process; glucose metabolic process | 7q21.3 |
| PDLIM1 | response to hypoxia; regulation of transcription, DNA-dependent; 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 | actin cytoskeleton organization; cell differentiation; positive regulation of osteoblast differentiation; receptor-mediated endocytosis; multicellular organismal development; ossification | 5q35.3 |
| PDP1 | pyruvate metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; peptidyl-threonine dephosphorylation; small molecule metabolic process | 8q22.1 |
| PDP2 | small molecule metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; protein dephosphorylation; pyruvate metabolic process | 16q22.1 |
| PDPK1 | actin cytoskeleton organization; synaptic transmission; protein autophosphorylation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; phosphorylation; peptidyl-threonine phosphorylation; blood coagulation; platelet activation; negative regulation of transforming growth factor beta receptor signaling pathway; T cell costimulation; activation of protein kinase B activity; cellular response to insulin stimulus; intracellular signal transduction; regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; hyperosmotic response; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; focal adhesion assembly; T cell receptor signaling pathway; positive regulation of establishment of protein localization in plasma membrane; regulation of transcription, DNA-dependent; protein phosphorylation; negative regulation of protein kinase activity; epidermal growth factor receptor signaling pathway | 16p13.3 |
| PDPN | cell morphogenesis; lung development; lymphangiogenesis; tube morphogenesis; water transport; amino acid transport; positive regulation of platelet activation; folic acid transport; inflammatory response; positive regulation of cellular component movement; lung alveolus development; response to hyperoxia; cell cycle; signal transduction; nervous system development; cell proliferation; regulation of cell shape; embryo development; cell-cell adhesion; positive regulation of cell migration; prostaglandin metabolic process | 1p36.21 |
| PDPR | pyruvate metabolic process; glycine catabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; small molecule metabolic process | 16q22.1 |
| PDRG1 | protein folding | 20q11.21 |
| PDS5A | cell cycle; mitosis; negative regulation of DNA replication; cell division | 4p14 |
| PDS5B | cell division; regulation of cell proliferation; negative regulation of cell proliferation; cell cycle; mitotic sister chromatid cohesion; mitosis; cell proliferation | 13q12.3 |
| PDSS1 | ubiquinone biosynthetic process; protein heterotetramerization; isoprenoid biosynthetic process | 10p12.1 |
| PDSS2 | protein heterotetramerization; regulation of body fluid levels; isoprenoid biosynthetic process; ubiquinone biosynthetic process | 6q21 |
| PDX1 | endocrine pancreas development; organ morphogenesis; morphogenesis of embryonic epithelium; insulin secretion; exocrine pancreas development; regulation of transcription, DNA-dependent; negative regulation of cell proliferation; positive regulation of cell proliferation; multicellular organismal development; nitric oxide mediated signal transduction; transcription from RNA polymerase II promoter; detection of glucose; glucose homeostasis; 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; positive regulation of transcription from RNA polymerase II promoter; digestive tract development | 13q12.1 |
| PDXDC1 | carboxylic acid metabolic process | 16p13.11 |
| PDXDC2P | carboxylic acid metabolic process | 16q22.1 |
| PDXK | vitamin B6 metabolic process; pyridoxal phosphate biosynthetic process; pyridoxal 5'-phosphate salvage; small molecule metabolic process; vitamin metabolic process; cell proliferation; water-soluble vitamin metabolic process | 21q22.3 |
| PDXP | protein dephosphorylation; cellular response to ATP; regulation of cytokinesis; actin rod assembly; positive regulation of actin filament depolymerization; metabolic process; regulation of mitosis | 22q12.3 |
| PDYN | cell death; synaptic transmission; neuropeptide signaling pathway | 20p13 |
| PDZD11 | - | Xq13.1 |
| PDZD2 | cell adhesion | 5p13.3 |
| PDZD3 | ion transport; water transport; receptor guanylyl cyclase signaling pathway; response to toxin; cGMP-mediated signaling; negative regulation of cGMP biosynthetic process | 11q23.3 |
| PDZD4 | - | Xq28 |
| PDZD7 | - | 10q24.31 |
| PDZD8 | intracellular signal transduction; interspecies interaction between organisms; regulation of cell morphogenesis; cytoskeleton organization | 10q26.12 |
| PDZD9 | - | 16p12.2 |
| PDZK1 | drug transport; carnitine transport; positive regulation of ion transmembrane transport; transport; cell proliferation | 1q21 |
| PDZK1IP1 | - | 1p33 |
| PDZK1P2 | - | 1q21.2 |
| PDZRN3 | neuromuscular junction development; protein ubiquitination | 3p13 |
| PDZRN4 | - | 12q12 |
| PEA15 | carbohydrate transport; transport; anti-apoptosis; regulation of apoptotic process; response to morphine; negative regulation of glucose import | 1q21.1 |
| PEAK1 | - | 15q24.3 |
| PEAR1 | recognition of apoptotic cell | 1q23.1 |
| PEBP1 | eating behavior; positive regulation of acetylcholine metabolic process; response to organic nitrogen; response to toxin; response to electrical stimulus; response to calcium ion; response to cAMP; response to corticosterone stimulus; positive regulation of mitosis; response to ethanol; positive regulation of cAMP-mediated signaling; negative regulation of MAPK cascade; response to oxidative stress; response to drug; response to activity; response to wounding; response to heat; response to organic cyclic compound; aging; brain development; spermatid development; regulation of neurotransmitter levels; negative regulation of protein phosphorylation; regulation of the force of heart contraction | 12q24.23 |
| PEBP1P3 | - | 1q31.3 |
| PEBP4 | - | 8p21.3 |
| PECAM1 | platelet degranulation; cell adhesion; signal transduction; blood coagulation; cell recognition; platelet activation; leukocyte migration; diapedesis; glomerular endothelium development; phagocytosis | 17q23.3 |
| PECR | oxidation-reduction process; regulation of apoptotic process; phytol metabolic process; fatty acid biosynthetic process | 2q35 |
| PEF1 | response to calcium ion | 1p34 |
| PEG10 | cell differentiation; apoptotic process; negative regulation of transforming growth factor beta receptor signaling pathway | 7q21 |
| PEG3 | apoptotic process; viral reproduction | 19q13.4 |
| PEG3-AS1 | - | 19q13.43 |
| PELI1 | toll-like receptor 4 signaling pathway; positive regulation of toll-like receptor 4 signaling pathway; Toll signaling pathway; toll-like receptor 2 signaling pathway; response to dsRNA; toll-like receptor 1 signaling pathway; positive regulation of cytokine production; innate immune response; MyD88-dependent toll-like receptor signaling pathway; response to lipopolysaccharide; positive regulation of toll-like receptor 3 signaling pathway; toll-like receptor signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of protein ubiquitination; positive regulation of B cell proliferation | 2p13.3 |
| PELI2 | MyD88-dependent toll-like receptor signaling pathway; toll-like receptor 1 signaling pathway; innate immune response; toll-like receptor signaling pathway; positive regulation of MAPK cascade; positive regulation of I-kappaB kinase/NF-kappaB cascade; toll-like receptor 4 signaling pathway; Toll signaling pathway; toll-like receptor 2 signaling pathway; positive regulation of protein phosphorylation | 14q21 |
| PELI3 | - | 11q13.2 |
| PELO | cell cycle; cell proliferation; chromosome organization; cell division | 5q11.2 |
| PELP1 | transcription, DNA-dependent | 17p13.2 |
| PEMT | positive regulation of lipoprotein metabolic process; lipid metabolic process; glycerophospholipid metabolic process; negative regulation of cell proliferation; cell proliferation; response to vitamin; response to drug; response to amino acid stimulus; phosphatidylcholine biosynthetic process; response to ethanol; phospholipid biosynthetic process; S-adenosylhomocysteine metabolic process; S-adenosylmethionine metabolic process | 17p11.2 |
| PENK | behavioral fear response; signal transduction; neuropeptide signaling pathway; behavior; sensory perception of pain | 8q23-q24 |
| PEPD | metabolic process; collagen catabolic process; cellular process; proteolysis; cellular amino acid metabolic process | 19q13.11 |
| PER2 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; circadian rhythm | 2q37.3 |
| PER3 | negative regulation of transcription from RNA polymerase II promoter; circadian rhythm; regulation of transcription, DNA-dependent | 1p36.23 |
| PERM1 | - | 1p36.33 |
| PERP | apoptotic process; cell adhesion | 6q24 |
| PES1 | mitotic metaphase; 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); rRNA processing; nucleolus organization; regulation of cell cycle; ribosomal large subunit biogenesis; cell proliferation | 22q12.1 |
| PES1P1 | - | 4q28.3 |
| PES1P2 | - | 9p23 |
| PET100 | - | 19p13.2 |
| PET117 | - | 20p11.23 |
| PEX1 | protein transport; protein targeting to peroxisome; peroxisome organization; protein import into peroxisome matrix; microtubule-based peroxisome localization | 7q21.2 |
| PEX10 | peroxisome organization; protein import into peroxisome matrix | 1p36.32 |
| PEX11A | peroxisome fission; brown fat cell differentiation; small molecule metabolic process; cellular lipid metabolic process; peroxisome membrane biogenesis; signal transduction; peroxisome organization | 15q26.1 |
| PEX11B | peroxisome fission; signal transduction; peroxisome organization | 1q21.1 |
| PEX11G | - | 19p13.2 |
| PEX12 | protein targeting to peroxisome; peroxisome organization; protein import into peroxisome matrix | 17q12 |
| PEX13 | cerebral cortex cell migration; protein import into peroxisome matrix, docking; protein transport; locomotory behavior; suckling behavior; neuron migration; fatty acid alpha-oxidation; microtubule-based peroxisome localization | 2p16.1 |
| PEX14 | protein homooligomerization; protein import into peroxisome matrix; protein transport; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of transcription, DNA-dependent; peroxisome organization | 1p36.22 |
| PEX16 | protein targeting to peroxisome; peroxisome organization; peroxisome membrane biogenesis; protein import into peroxisome matrix; ER-dependent peroxisome organization; protein import into peroxisome membrane | 11p11.2 |
| PEX19 | protein targeting to peroxisome; peroxisome organization; peroxisome membrane biogenesis; protein import into peroxisome membrane; transmembrane transport; chaperone-mediated protein transport | 1q23.2 |
| PEX2 | bile acid biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; neuron migration; peroxisome organization; nervous system development; protein destabilization; regulation of cholesterol biosynthetic process; negative regulation of fibroblast proliferation; negative regulation of epithelial cell proliferation; cholesterol homeostasis | 8q21.1 |
| PEX26 | protein import into peroxisome matrix; protein transport; protein import into peroxisome membrane | 22q11.21 |
| PEX3 | protein import into peroxisome membrane; transmembrane transport; peroxisome organization; peroxisome membrane biogenesis | 6q24.2 |
| PEX5 | protein targeting to peroxisome; protein transport; protein tetramerization; protein import into peroxisome matrix, translocation | 12p13.31 |
| PEX5L | regulated secretory pathway; positive regulation of corticotropin secretion; regulation of cAMP-mediated signaling; protein import into peroxisome matrix | 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; negative regulation of cytolysis; negative regulation of megakaryocyte differentiation; positive regulation of macrophage differentiation; negative regulation of MHC class II biosynthetic process; negative regulation of apoptotic process; positive regulation of tumor necrosis factor production; leukocyte chemotaxis; cytokine-mediated signaling pathway; negative regulation of angiogenesis; positive regulation of macrophage derived foam cell differentiation; positive regulation of gene expression; blood coagulation; immune response; platelet activation | 4q12-q21 |
| PF4V1 | immune response | 4q12-q21 |
| PFAS | purine base metabolic process; nucleobase-containing small molecule metabolic process; small molecule metabolic process; purine ribonucleoside monophosphate biosynthetic process; glutamine metabolic process; 'de novo' IMP biosynthetic process; purine nucleotide biosynthetic process | 17p13.1 |
| PFDN1 | 'de novo' posttranslational protein folding; cellular protein metabolic process; cell cycle; regulation of transcription, DNA-dependent; protein folding | 5q31 |
| PFDN2 | protein folding; cellular protein metabolic process; 'de novo' posttranslational protein folding | 1q23.3 |
| PFDN4 | protein folding; cellular protein metabolic process; 'de novo' posttranslational protein folding | 20q13.2 |
| PFDN5 | cellular protein metabolic process; negative regulation of canonical Wnt receptor signaling pathway; 'de novo' posttranslational protein folding; negative regulation of transcription, DNA-dependent; protein folding; regulation of transcription, DNA-dependent | 12q12 |
| PFKFB1 | response to glucagon stimulus; response to starvation; small molecule metabolic process; carbohydrate phosphorylation; response to glucocorticoid stimulus; response to cAMP; 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 | small molecule metabolic process; fructose metabolic process; carbohydrate metabolic process; positive regulation of glucokinase activity; positive regulation of insulin secretion; response to glucose stimulus; glycolysis; pyruvate metabolic process; lactate metabolic process; glucose metabolic process; fructose 2,6-bisphosphate metabolic process | 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; small molecule metabolic process; glycolysis; glucose metabolic process; carbohydrate metabolic process | 3p22-p21 |
| PFKL | carbohydrate metabolic process; fructose 6-phosphate metabolic process; glucose metabolic process; glycolysis; response to glucose stimulus; fructose 1,6-bisphosphate metabolic process; small molecule metabolic process; protein homotetramerization; protein oligomerization; carbohydrate phosphorylation; negative regulation of insulin secretion | 21q22.3 |
| PFKM | glucose metabolic process; fructose 6-phosphate metabolic process; protein homotetramerization; protein oligomerization; carbohydrate phosphorylation; muscle cell homeostasis; small molecule metabolic process; glucose homeostasis; positive regulation of insulin secretion; fructose 1,6-bisphosphate metabolic process; glycolysis; carbohydrate 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 | cellular response to growth factor stimulus; response to organic substance; 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; blood coagulation; platelet degranulation; neural tube closure | 17p13.3 |
| PFN1P1 | - | 1q24.3 |
| PFN1P10 | - | 1p36.12 |
| PFN1P2 | - | 1q21 |
| PFN1P4 | - | 1q21.1 |
| PFN1P7 | - | 1q21.1 |
| PFN2 | regulation of actin polymerization or depolymerization; actin cytoskeleton organization | 3q25.1 |
| PFN3 | actin cytoskeleton organization | 5q35.3 |
| PFN4 | actin cytoskeleton organization | 2p23.3 |
| PGA3 | - | 11q12.2 |
| PGAM1 | glycolysis; respiratory burst; small molecule metabolic process; regulation of pentose-phosphate shunt; regulation of glycolysis; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process | 10q25.3 |
| PGAM1P10 | - | - |
| PGAM1P11 | - | - |
| PGAM1P12 | - | 15q26.2 |
| PGAM1P2 | - | 9p13.3 |
| PGAM1P4 | - | 3p25.3 |
| PGAM1P5 | - | 12q22 |
| PGAM1P6 | - | - |
| PGAM1P7 | - | - |
| PGAM1P9 | - | - |
| PGAM2 | carbohydrate metabolic process; glucose metabolic process; gluconeogenesis; glycolysis; striated muscle contraction; spermatogenesis; response to inorganic substance; small molecule metabolic process; response to mercury ion | 7p13-p12 |
| PGAM4 | glycolysis | Xq13 |
| PGAM5 | - | 12q24.33 |
| PGAP1 | attachment of GPI anchor to protein; forebrain regionalization; post-translational protein modification; sensory perception of sound; intracellular protein transport; C-terminal protein lipidation; myo-inositol transport; anterior/posterior axis specification; embryonic pattern specification; cellular protein metabolic process; head development; nucleic acid phosphodiester bond hydrolysis | 2q33.1 |
| PGAP2 | signal transduction in response to DNA damage; protein transport; anti-apoptosis; GPI anchor biosynthetic process | 11p15.5 |
| PGAP3 | GPI anchor biosynthetic process; GPI anchor metabolic 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 | pentose-phosphate shunt; carbohydrate metabolic process; 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 division; vascular endothelial growth factor receptor signaling pathway; cell differentiation; positive regulation of cell proliferation; cell-cell signaling; signal transduction; angiogenesis; multicellular organismal development | 14q24.3 |
| PGGT1B | positive regulation of cell cycle; response to cytokine stimulus; protein geranylgeranylation; positive regulation of cell proliferation | 5q22.3 |
| PGGT1BP1 | - | 10q11.23 |
| PGGT1BP2 | - | 10q22.3 |
| PGK1 | carbohydrate metabolic process; glucose metabolic process; gluconeogenesis; glycolysis; phosphorylation; small molecule metabolic process | Xq13.3 |
| PGK1P1 | - | Xq12 |
| PGK1P2 | - | 19p13.3 |
| PGLS | carbohydrate metabolic process; small molecule metabolic process; pentose-phosphate shunt, oxidative branch; pentose-phosphate shunt | 19p13.2 |
| PGLYRP2 | peptide amidation; peptidoglycan catabolic process; detection of bacterium; innate immune response; defense response to Gram-positive bacterium | 19p13.12 |
| PGLYRP3 | detection of bacterium; defense response to Gram-positive bacterium; innate immune response; peptidoglycan catabolic process | 1q21 |
| PGLYRP4 | detection of bacterium; innate immune response; defense response to Gram-positive bacterium; peptidoglycan catabolic process | 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 | glycogen biosynthetic process; glycogen catabolic process; carbohydrate metabolic process; glucose metabolic process; glucose 1-phosphate metabolic process; small molecule metabolic process | 4p14 |
| PGM2L1 | glucose 1-phosphate metabolic process; carbohydrate metabolic process | 11q13.4 |
| PGM3 | carbohydrate metabolic process; cellular protein metabolic process; post-translational protein modification; hemopoiesis; glucose 1-phosphate metabolic process; protein N-linked glycosylation via asparagine; embryo development ending in birth or egg hatching; dolichol-linked oligosaccharide biosynthetic process; UDP-N-acetylglucosamine biosynthetic process; glucosamine metabolic process | 6q14.1-q15 |
| PGM5 | trehalose biosynthetic process; galactose catabolic process; cell adhesion; glucose 1-phosphate metabolic process; 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 | negative regulation of gene expression; mammary gland development; tertiary branching involved in mammary gland duct morphogenesis; steroid hormone mediated signaling pathway; regulation of epithelial cell proliferation; progesterone receptor signaling pathway; gene expression; cell-cell signaling; signal transduction; epithelial cell maturation; ovulation from ovarian follicle | 11q22-q23 |
| PGRMC1 | - | Xq22-q24 |
| PGRMC2 | steroid hormone mediated signaling pathway | 4q26 |
| PGS1 | diacylglycerol metabolic process; cardiolipin biosynthetic process; phospholipid biosynthetic process; phosphatidylglycerol biosynthetic process | 17q25.3 |
| PHACTR1 | - | 6p24.1 |
| PHACTR2 | - | 6q24.2 |
| PHACTR2-AS1 | - | 6q24.2 |
| PHACTR3 | - | 20q13.32-q13.33 |
| PHACTR4 | - | 1p35.3 |
| PHAX | protein transport; ncRNA metabolic process; RNA metabolic process; spliceosomal snRNP assembly; snRNA export from nucleus; gene expression | 5q23.2 |
| PHB | regulation of apoptotic process; negative regulation of cell growth; negative regulation of transcription by competitive promoter binding; histone deacetylation; negative regulation of glucocorticoid receptor signaling pathway; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; progesterone receptor signaling pathway; negative regulation of androgen receptor signaling pathway; cellular response to interleukin-6; negative regulation of transcription from RNA polymerase II promoter; DNA replication; regulation of transcription, DNA-dependent; negative regulation of cell proliferation; signal transduction | 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 | biomineral tissue development; cell-cell signaling; proteolysis; protein modification process; skeletal system development | Xp22.2-p22.1 |
| PHF1 | chromatin modification; regulation of transcription, DNA-dependent | 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; mitosis; mitotic chromosome condensation; chromatin modification; cell division; chromosome segregation | 1p36.31 |
| PHF14 | - | 7p21.3 |
| PHF19 | regulation of transcription, DNA-dependent | 9q33.2 |
| PHF2 | liver development; negative regulation of chromatin silencing at rDNA; histone H3-K9 demethylation; chromatin modification; protein demethylation; regulation of transcription, DNA-dependent | 9q22.31 |
| PHF20 | histone H4-K8 acetylation; regulation of transcription, DNA-dependent; histone H4-K5 acetylation; histone H4-K16 acetylation | 20q11.22-q11.23 |
| PHF20L1 | - | 8q24.22 |
| PHF21A | suckling behavior; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; chromatin modification; blood coagulation | 11p11.2 |
| PHF21B | - | 22q13.31 |
| PHF23 | - | 17p13.1 |
| PHF24 | - | 9p13.3 |
| PHF2P1 | - | 13q11 |
| PHF2P2 | - | - |
| PHF3 | multicellular organismal development; transcription, DNA-dependent | 6q12 |
| PHF5A | positive regulation of transcription, DNA-dependent; gene expression; RNA splicing; nuclear mRNA splicing, via spliceosome | 22q13.2 |
| PHF5CP | - | 19p12 |
| PHF5GP | - | 2q24.3 |
| PHF5HP | - | 15q26.3 |
| PHF6 | regulation of transcription, DNA-dependent | Xq26.3 |
| PHF7 | - | 3p21.1 |
| PHF8 | chromatin modification; brain development; cell cycle; G1/S transition of mitotic cell cycle; histone H3-K9 demethylation; histone H3-K27 demethylation; histone H4-K20 demethylation; positive regulation of transcription, DNA-dependent; histone H3-K36 demethylation; positive regulation of transcription from RNA polymerase I promoter; negative regulation of chromatin silencing at rDNA | Xp11.22 |
| PHGDH | L-serine biosynthetic process; brain development; cellular amino acid biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 1p12 |
| PHGR1 | - | 15q15.1 |
| PHIP | positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of cell proliferation; positive regulation of mitosis; positive regulation of insulin-like growth factor receptor signaling pathway; 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; regulation of protein phosphorylation; protein import into nucleus; cytoskeleton organization | 6q14 |
| PHKA1 | carbohydrate metabolic process; polysaccharide metabolic process; glycogen metabolic process; glycogen catabolic process; small molecule metabolic process; protein autophosphorylation; glucose metabolic process; generation of precursor metabolites and energy | Xq12-q13 |
| PHKA1P1 | - | 1p22.2 |
| PHKA2 | protein modification process; carbohydrate metabolic process; polysaccharide metabolic process; glycogen catabolic process; glucose metabolic process; generation of precursor metabolites and energy; small molecule metabolic process | Xp22.2-p22.1 |
| PHKA2-AS1 | - | Xp22.13 |
| PHKB | polysaccharide metabolic process; glycogen metabolic process; glycogen catabolic process; glucose metabolic process; generation of precursor metabolites and energy; carbohydrate metabolic process; small molecule metabolic process | 16q12-q13 |
| PHKBP1 | - | 20p12.3-p12.2 |
| PHKG1 | carbohydrate metabolic process; glycogen biosynthetic process; glycogen catabolic process; glucose metabolic process; small molecule metabolic process | 7p11.2 |
| PHKG1P2 | - | 7q11.21 |
| PHKG2 | glycogen metabolic process; carbohydrate metabolic process; glycogen biosynthetic process; glycogen catabolic process; glucose metabolic process; generation of precursor metabolites and energy; protein phosphorylation; small molecule metabolic process; positive regulation of glycogen catabolic process | 16p11.2 |
| PHLDA1 | FasL biosynthetic process; induction of apoptosis; apoptotic process | 12q15 |
| PHLDA2 | apoptotic process; organ morphogenesis | 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 | apoptotic process; circadian rhythm; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling | 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; positive regulation of transcription from RNA polymerase II promoter; sympathetic nervous system development; parasympathetic nervous system development | 11q13.2 |
| PHOX2B | cellular response to BMP stimulus; negative regulation of neuron differentiation; positive regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; cell development; neuron migration; cell differentiation in hindbrain; glial cell differentiation; negative regulation of cell proliferation; nervous system development; multicellular organismal development; regulation of transcription, DNA-dependent | 4p12 |
| PHPT1 | negative regulation of ATP citrate synthase activity; regulation of actin cytoskeleton reorganization; positive regulation of cell motility; negative regulation of lyase activity; negative regulation of T cell receptor signaling pathway; peptidyl-histidine dephosphorylation; protein dephosphorylation | 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 biosynthetic process; phosphatidylinositol-mediated signaling; synaptic transmission; signal transduction | 22q11.21 |
| PI4KAP1 | phosphatidylinositol phosphorylation; phosphatidylinositol-mediated signaling | 22q11.21 |
| PI4KAP2 | phosphatidylinositol-mediated signaling; phosphatidylinositol phosphorylation | 22q11.21 |
| PI4KB | signal transduction; phosphatidylinositol phosphorylation; phosphatidylinositol-mediated signaling; receptor-mediated endocytosis; phosphatidylinositol biosynthetic process | 1q21 |
| PIANP | - | 12p13.31 |
| PIAS1 | negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; JAK-STAT cascade; cytokine-mediated signaling pathway; androgen receptor signaling pathway; positive regulation of protein sumoylation; interferon-gamma-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway | 15q |
| PIAS2 | protein sumoylation; androgen receptor signaling pathway; regulation of osteoblast differentiation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of androgen receptor signaling pathway | 18q21.1 |
| PIAS3 | protein sumoylation; regulation of transcription, DNA-dependent; response to hormone stimulus; positive regulation of membrane potential; positive regulation of protein sumoylation; positive regulation of gene expression | 1q21 |
| PIAS4 | negative regulation of NF-kappaB transcription factor activity; Wnt receptor signaling pathway; positive regulation of protein sumoylation; positive regulation of apoptotic process; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 19p13.3 |
| PIBF1 | - | 13q22.1 |
| PICALM | protein complex assembly; receptor internalization; regulation of protein localization; hemopoiesis; receptor-mediated endocytosis; positive regulation of transcription, DNA-dependent; negative regulation of receptor-mediated endocytosis; regulation of endocytosis; clathrin coat assembly; dendrite morphogenesis; axonogenesis; vesicle-mediated transport; endosome transport | 11q14 |
| PICK1 | retrograde vesicle-mediated transport, Golgi to ER; receptor clustering; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; neuronal ion channel clustering; DNA methylation involved in embryo development; DNA methylation involved in gamete generation; protein phosphorylation; monoamine transport; protein targeting; synaptic transmission; ATP catabolic process | 22q13.1 |
| PID1 | positive regulation of fat cell proliferation; positive regulation of ATP biosynthetic process; regulation of mitochondrial membrane potential; negative regulation of insulin receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; regulation of G1/S transition of mitotic cell cycle; mitochondrion morphogenesis; cellular response to cytokine stimulus; positive regulation of reactive oxygen species metabolic process; cellular response to interleukin-6; regulation of reactive oxygen species metabolic process; negative regulation of ATP biosynthetic process; cellular response to tumor necrosis factor; negative regulation of glucose import in response to insulin stimulus; cellular response to fatty acid; negative regulation of establishment of protein localization in plasma membrane; negative regulation of mitochondrial DNA replication; negative regulation of protein phosphorylation; energy reserve metabolic process; positive regulation of gene expression; regulation of mi | 2q36.3 |
| PIDD1 | negative regulation of apoptotic process; response to DNA damage stimulus; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; signal transduction | 11p15.5 |
| PIEZO1 | positive regulation of integrin activation; positive regulation of cell-cell adhesion mediated by integrin; ion transport | 16q24.3 |
| PIEZO1P2 | - | - |
| PIEZO2 | ion transport | 18p11.22 |
| PIF1 | regulation of telomere maintenance; negative regulation of telomerase activity | 15q22.31 |
| PIFO | - | 1p13.2 |
| PIGA | post-translational protein modification; C-terminal protein lipidation; GPI anchor biosynthetic process; biosynthetic process; positive regulation of metabolic process; preassembly of GPI anchor in ER membrane; cellular protein metabolic process | Xp22.1 |
| PIGAP1 | - | 12q21 |
| PIGB | GPI anchor biosynthetic process; preassembly of GPI anchor in ER membrane; post-translational protein modification; C-terminal protein lipidation; cellular protein metabolic process | 15q21.3 |
| PIGBOS1 | - | - |
| PIGC | GPI anchor biosynthetic process; cellular protein metabolic process; post-translational protein modification; preassembly of GPI anchor in ER membrane; 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 | GPI anchor biosynthetic process; C-terminal protein lipidation; preassembly of GPI anchor in ER membrane; cellular protein metabolic process; post-translational protein modification | 4p16.3 |
| PIGH | cellular protein metabolic process; protein modification process; C-terminal protein lipidation; GPI anchor biosynthetic process; post-translational protein modification; preassembly of GPI anchor in ER membrane | 14q24.1 |
| PIGK | protein thiol-disulfide exchange; cellular protein metabolic process; post-translational protein modification; attachment of GPI anchor to protein; proteolysis; C-terminal protein lipidation | 1p31.1 |
| PIGL | GPI anchor biosynthetic process; preassembly of GPI anchor in ER membrane; cellular protein metabolic process; post-translational protein modification; C-terminal protein lipidation | 17p12-p11.2 |
| PIGM | C-terminal protein lipidation; post-translational protein modification; cellular protein metabolic process; preassembly of GPI anchor in ER membrane | 1q23.2 |
| PIGN | C-terminal protein lipidation; preassembly of GPI anchor in ER membrane; post-translational protein modification; cellular protein metabolic process | 18q21.33 |
| PIGO | preassembly of GPI anchor in ER membrane; post-translational protein modification; cellular protein metabolic process; C-terminal protein lipidation; GPI anchor biosynthetic process | 9p13.3 |
| PIGP | preassembly of GPI anchor in ER membrane; cellular protein metabolic process; post-translational protein modification; C-terminal protein lipidation | 21q22.2 |
| PIGPP3 | - | 20q11.22 |
| PIGQ | cellular protein metabolic process; post-translational protein modification; preassembly of GPI anchor in ER membrane; C-terminal protein lipidation; carbohydrate 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 | neuron differentiation; cellular protein metabolic process; post-translational protein modification; attachment of GPI anchor to protein; neuron apoptosis; C-terminal protein lipidation | 20q12-q13.12 |
| PIGU | attachment of GPI anchor to protein; post-translational protein modification; GPI anchor biosynthetic process; cellular protein metabolic process; regulation of JAK-STAT cascade; C-terminal protein lipidation | 20q11.22 |
| PIGUP1 | - | - |
| PIGV | C-terminal protein lipidation; GPI anchor biosynthetic process; cellular protein metabolic process; post-translational protein modification; preassembly of GPI anchor in ER membrane | 1p36.11 |
| PIGW | C-terminal protein lipidation; preassembly of GPI anchor in ER membrane; post-translational protein modification; cellular protein metabolic process | 17q12 |
| PIGX | cellular protein metabolic process; C-terminal protein lipidation; post-translational protein modification; preassembly of GPI anchor in ER membrane | 3q29 |
| PIGY | GPI anchor biosynthetic process; positive regulation of metabolic 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; clathrin coat assembly; phosphatidylinositol-mediated signaling; phosphatidylinositol biosynthetic process; exocytosis; endocytosis; 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 | 11p15.5-p14 |
| PIK3C2B | cell communication; protein kinase B signaling cascade; phosphatidylinositol-mediated signaling | 1q32 |
| PIK3C2G | phosphatidylinositol-mediated signaling; chemotaxis; cell communication; phosphatidylinositol-3-phosphate biosynthetic process; phosphatidylinositol phosphorylation | 12p12 |
| PIK3C3 | cytokinesis; endosome organization; cell cycle; insulin receptor signaling pathway; phosphatidylinositol-3-phosphate biosynthetic process; response to leucine; autophagic vacuole assembly; early endosome to late endosome transport; innate immune response; phosphatidylinositol-mediated signaling; regulation of protein secretion | 18q12.3 |
| PIK3CA | insulin receptor signaling pathway; positive regulation of peptidyl-serine phosphorylation; T cell costimulation; platelet activation; fibroblast growth factor receptor signaling pathway; angiogenesis; vasculature development; glucose metabolic process; protein kinase B signaling cascade; blood coagulation; epidermal growth factor receptor signaling pathway; signal transduction; anti-apoptosis; protein phosphorylation; insulin receptor signaling pathway via phosphatidylinositol 3-kinase cascade; nerve growth factor receptor signaling pathway; phosphatidylinositol phosphorylation; phosphatidylinositol-mediated signaling; T cell receptor signaling pathway; leukocyte migration; cardiac muscle contraction; regulation of genetic imprinting; hypomethylation of CpG island; endothelial cell migration; regulation of multicellular organism growth; phosphatidylinositol-3-phosphate biosynthetic process | 3q26.3 |
| PIK3CB | activation of MAPK activity; regulation of cell-matrix adhesion; cellular calcium ion homeostasis; endocytosis; blood coagulation; insulin receptor signaling pathway; positive regulation of autophagy; G-protein coupled receptor signaling pathway; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; homophilic cell adhesion; cell adhesion; chemotaxis; regulation of clathrin-mediated endocytosis; platelet aggregation; leukocyte migration; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; phosphatidylinositol phosphorylation; T cell receptor signaling pathway; phosphatidylinositol 3-kinase cascade; cell migration; platelet activation; phosphatidylinositol-3-phosphate biosynthetic process; embryonic cleavage | 3q22.3 |
| PIK3CD | B cell receptor signaling pathway; 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; neutrophil extravasation; mast cell differentiation; neutrophil chemotaxis; natural killer cell differentiation; B cell homeostasis; cytokine production; adaptive immune response; mast cell chemotaxis; respiratory burst involved in defense response; protein phosphorylation; chemotaxis; inflammatory response; signal transduction; cell surface receptor signaling pathway; T cell chemotaxis; phosphatidylinositol 3-kinase cascade; natural killer cell activation; cell differentiation; T cell differentiation; natural killer cell chemotaxis | 1p36.2 |
| PIK3CD-AS1 | - | 1p36.22 |
| PIK3CG | neutrophil chemotaxis; adaptive immune response; neutrophil extravasation; platelet aggregation; negative regulation of cardiac muscle contraction; phosphatidylinositol phosphorylation; cytokine production; innate immune response; mast cell degranulation; negative regulation of apoptotic process; T cell activation; T cell proliferation; phosphatidylinositol-3-phosphate biosynthetic process; natural killer cell chemotaxis; regulation of cell adhesion mediated by integrin; secretory granule localization; platelet activation; phosphatidylinositol 3-kinase cascade; T cell chemotaxis; blood coagulation; G-protein coupled receptor signaling pathway; inflammatory response; chemotaxis; endocytosis; protein phosphorylation; respiratory burst involved in defense response; positive regulation of acute inflammatory response; dendritic cell chemotaxis | 7q22.3 |
| PIK3IP1 | negative regulation of kinase activity | 22q12.2 |
| PIK3R1 | regulation of phosphatidylinositol 3-kinase activity; signal transduction; epidermal growth factor receptor signaling pathway; insulin receptor signaling pathway; 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; T cell costimulation; platelet activation; phosphatidylinositol 3-kinase cascade; fibroblast growth factor receptor signaling pathway; blood coagulation | 5q13.1 |
| PIK3R2 | negative regulation of anti-apoptosis; signal transduction; 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 | 19q13.2-q13.4 |
| PIK3R3 | regulation of catalytic activity; regulation of phosphorylation; phosphatidylinositol-3-phosphate biosynthetic process; T cell costimulation; platelet activation; insulin receptor signaling pathway; blood coagulation | 1p34.1 |
| PIK3R4 | protein phosphorylation; insulin receptor signaling pathway; innate immune response | 3q22.1 |
| PIK3R5 | blood coagulation; platelet activation; regulation of phosphatidylinositol 3-kinase activity | 17p13.1 |
| PIK3R6 | platelet activation; blood coagulation | 17p13.1 |
| PIKFYVE | retrograde transport, endosome to Golgi; cellular protein metabolic process; intracellular signal transduction; protein localization to nucleus; receptor-mediated endocytosis | 2q34 |
| PILRA | signal transduction; interspecies interaction between organisms | 7q22.1 |
| PILRB | activation of transmembrane receptor protein tyrosine kinase activity; transmembrane receptor protein tyrosine kinase signaling pathway | 7q22.1 |
| PIM1 | protein autophosphorylation; cell proliferation; positive regulation of cyclin-dependent protein kinase activity involved in G1/S; negative regulation of apoptotic process; negative regulation of sequence-specific DNA binding transcription factor activity; protein phosphorylation; cell cycle; multicellular organismal development | 6p21.2 |
| PIM2 | protein stabilization; anti-apoptosis; cell cycle; protein phosphorylation; G1/S transition of mitotic cell cycle; apoptotic mitochondrial changes; negative regulation of cell proliferation; male meiosis; cell proliferation; response to virus; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of transcription, DNA-dependent; positive regulation of autophagy | Xp11.23 |
| PIM3 | regulation of mitotic cell cycle; protein phosphorylation; cell cycle; negative regulation of insulin secretion involved in cellular response to glucose stimulus; negative regulation of apoptotic process | 22q13 |
| PIN1 | positive regulation of protein phosphorylation; 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; innate immune response; regulation of cell proliferation; negative regulation of type I interferon production; regulation of cytokinesis; positive regulation of Rho GTPase activity; negative regulation of transforming growth factor beta receptor signaling pathway; cytokine-mediated signaling pathway; regulation of mitosis; cell cycle; protein folding; protein peptidyl-prolyl isomerization | 19p13 |
| PIN1P1 | - | 1p31 |
| PIN4 | rRNA processing; protein folding | Xq13 |
| PIN4P1 | - | 15q15.3 |
| PINK1 | cell death; intracellular protein kinase cascade; response to stress; protein phosphorylation; mitochondrion degradation; positive regulation of synaptic transmission, dopaminergic; regulation of protein ubiquitination; peptidyl-serine phosphorylation; positive regulation of dopamine secretion; positive regulation of release of cytochrome c from mitochondria; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of protein complex assembly | 1p36 |
| PINK1-AS | - | 1p36.12 |
| PINLYP | - | 19q13.31 |
| PINX1 | mitotic metaphase plate congression; negative regulation of cell proliferation; regulation of telomerase activity; telomere maintenance via telomerase; negative regulation of telomerase activity | 8p23 |
| PIP | - | 7q34 |
| PIP4K2A | phosphorylation | 10p12.2 |
| PIP4K2B | cell surface receptor signaling pathway | 17q12 |
| PIP4K2C | - | 12q13.3 |
| PIP5K1A | phagocytosis; ruffle assembly; protein targeting to plasma membrane; cell chemotaxis; focal adhesion assembly; activation of Rac GTPase activity; actin cytoskeleton reorganization; keratinocyte differentiation; cell migration; phosphorylation; fibroblast migration; phospholipid biosynthetic process; signal transduction; glycerophospholipid metabolic process | 1q21.3 |
| PIP5K1B | phosphorylation | 9q13 |
| PIP5K1C | actin cytoskeleton organization; neutrophil chemotaxis; synaptic vesicle endocytosis; clathrin-mediated endocytosis; phagocytosis; adherens junction assembly; cell-cell adhesion; synaptic vesicle exocytosis; axon guidance | 19p13.3 |
| PIP5K1P1 | - | 6p24.3 |
| PIP5K1P2 | - | 7q36.3 |
| PIP5KL1 | - | 9q34.11 |
| PIPOX | L-lysine catabolic process to acetyl-CoA via L-pipecolate; tetrahydrofolate metabolic process; oxidation-reduction 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 | phospholipid transport; lipid metabolic process; transport; axon guidance; visual perception | 17p13.3 |
| PITPNA-AS1 | - | 17p13.3 |
| PITPNB | in utero embryonic development; lipid metabolic process; transport | 22q12.1 |
| PITPNC1 | signal transduction; lipid transport; transport | 17q24.2 |
| PITPNM1 | lipid metabolic process; protein transport; phototransduction; brain development | 11q13 |
| PITPNM2 | metabolic process; transport | 12q24.31 |
| PITPNM3 | - | 17p13 |
| PITRM1 | proteolysis; positive regulation of catalytic activity | 10p15.2 |
| PITRM1-AS1 | - | - |
| PITX1 | cartilage development; skeletal system development; multicellular organismal development; anatomical structure morphogenesis; branchiomeric skeletal muscle development; pituitary gland development; embryonic hindlimb morphogenesis; positive regulation of transcription from RNA polymerase II promoter; myoblast cell fate commitment | 5q31.1 |
| PITX2 | camera-type eye development; positive regulation of transcription from RNA polymerase II promoter; somatotropin secreting cell differentiation; prolactin secreting cell differentiation; iris morphogenesis; cell proliferation involved in outflow tract morphogenesis; negative regulation of transcription from RNA polymerase II promoter; cardiac neural crest cell migration involved in outflow tract morphogenesis; regulation of transcription, DNA-dependent; multicellular organismal development; determination of left/right symmetry; hair cell differentiation; deltoid tuberosity development; odontogenesis | 4q25 |
| PITX3 | dopaminergic neuron differentiation; midbrain development; lens fiber cell differentiation; neuron development; positive regulation of transcription, DNA-dependent; organ morphogenesis; multicellular organismal development; locomotory behavior; regulation of transcription, DNA-dependent; lens morphogenesis in camera-type eye; lens development in camera-type eye | 10q24.32 |
| PIWIL1 | multicellular organismal development; meiosis; spermatogenesis; gene silencing by RNA; regulation of translation; cell differentiation; piRNA metabolic process; spermatid development | 12q24.33 |
| PIWIL2 | germ-line stem cell maintenance; piRNA metabolic process; gene silencing by RNA; meiotic prophase I; multicellular organismal development; spermatogenesis; cell differentiation; oogenesis; DNA methylation involved in gamete generation; RNA 5'-end processing; meiosis; positive regulation of translation | 8p21.3 |
| PIWIL3 | cell differentiation; gene silencing by RNA; spermatogenesis; multicellular organismal development; meiosis; regulation of translation | 22q11.23 |
| PIWIL4 | meiosis; gene silencing by RNA; piRNA metabolic process; DNA methylation involved in gamete generation; multicellular organismal development; regulation of translation; cell differentiation; spermatogenesis | 11q21 |
| PJA1 | protein catabolic process | Xq13.1 |
| PJA2 | protein ubiquitination; regulation of protein kinase A signaling cascade; long-term memory | 5q21.3 |
| PKD1 | peptidyl-serine phosphorylation; placenta blood vessel development; 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; positive regulation of transcription from RNA polymerase II promoter; digestive tract development; branching morphogenesis of a tube; genitalia development; detection of mechanical stimulus; cartilage development; lung epithelium development; calcium ion transport; metanephric proximal tubule development; metanephric ascending thin limb development; cartilage condensation; in utero embryonic development; kidney development; embryonic placenta development; protein export from nucleus; cation transport; anatomical structure morphogenesis; cell cycle arrest; homophilic cell adhesion; cell-matrix adhesion; calcium-independent cell-matrix adhesion; neuropeptide signaling pathway; JAK | 16p13.3 |
| PKD1L1 | left/right axis specification; detection of nodal flow; cell-cell adhesion | 7p12.3 |
| PKD1L2 | ion transport; neuropeptide signaling pathway | 16q23.2 |
| PKD1L3 | detection of chemical stimulus involved in sensory perception of sour taste; cation transport; neuropeptide signaling pathway; cellular response to acidity | 16q22.2 |
| PKD1P1 | - | 16p13.11 |
| PKD1P4 | - | 16p13.12 |
| PKD1P6 | - | 16p13.13 |
| PKD2 | embryonic placenta development; detection of nodal flow; liver development; kidney development; negative regulation of ryanodine-sensitive calcium-release channel activity; placenta blood vessel development; renal tubule morphogenesis; determination of heart left/right asymmetry; calcium ion transmembrane transport; positive regulation of cell cycle arrest; cellular response to hydrostatic pressure; cellular response to osmotic stress; 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; negative regulation of G1/S transition of mitotic cell cycle; positive regulation of cyclin-dependent protein kinase ac | 4q22.1 |
| PKD2L1 | detection of chemical stimulus involved in sensory perception of sour taste; cation transport; sodium ion transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; cellular response to acidity; potassium ion transmembrane transport | 10q24 |
| PKD2L2 | ion transport | 5q31 |
| PKDCC | palate development; lung alveolus development; cell differentiation; negative regulation of Golgi to plasma membrane protein transport; embryonic digestive tract development; ossification; protein phosphorylation; positive regulation of bone mineralization; positive regulation of chondrocyte differentiation; multicellular organismal development; protein transport | 2p21 |
| PKDREJ | neuropeptide signaling pathway; acrosome reaction; ion transport | 22q13.31 |
| PKHD1 | kidney development; regulation of centrosome duplication; cell-cell adhesion; cilium assembly; homeostatic process; negative regulation of cellular component movement | 6p12.2 |
| PKHD1L1 | immune response | 8q23 |
| PKI55 | - | 2q35 |
| PKIA | negative regulation of transcription from RNA polymerase II promoter; regulation of G2/M transition of mitotic cell cycle; negative regulation of protein import into nucleus; negative regulation of phosphorylation; negative regulation of catalytic activity; negative regulation of protein serine/threonine kinase activity | 8q21.12 |
| PKIB | negative regulation of protein kinase activity | 6q22.31 |
| PKIG | negative regulation of protein import into nucleus; signal transduction; negative regulation of protein kinase activity; negative regulation of phosphorylation; negative regulation of transcription from RNA polymerase II promoter | 20q12-q13.1 |
| PKLR | response to other organism; response to cAMP; small molecule metabolic process; cellular response to insulin stimulus; pyruvate biosynthetic process; response to ATP; response to glucose stimulus; response to lithium ion; carbohydrate metabolic process; response to hypoxia; response to organic cyclic compound; endocrine pancreas development; positive regulation of cellular metabolic process; glucose metabolic process; glycolysis; energy reserve metabolic process; ATP biosynthetic process; response to nutrient; response to heat | 1q21 |
| PKM | - | 15q22 |
| PKMP1 | - | 1p13.2 |
| PKMP2 | - | Xq12 |
| PKMP3 | - | - |
| PKMP5 | - | 6p25.1 |
| PKMYT1 | regulation of cyclin-dependent protein kinase activity; G2/M transition of mitotic cell cycle; G1/S transition of mitotic cell cycle; mitotic cell cycle; protein phosphorylation; mitosis; regulation of mitosis; negative regulation of phosphatase activity; phosphorylation; regulation of cell cycle | 16p13.3 |
| PKN1 | activation of JUN kinase activity; epithelial cell migration; signal transduction; protein phosphorylation; chromatin modification; histone H3-T11 phosphorylation; regulation of cell motility; regulation of transcription from RNA polymerase II promoter | 19p13.12 |
| PKN2 | positive regulation of mitotic cell cycle; cell division; positive regulation of cell cycle cytokinesis; signal transduction; regulation of transcription, DNA-dependent; protein phosphorylation; apoptotic process; apical junction assembly; cell cycle; epithelial cell migration; regulation of cell motility; cell adhesion | 1p22.2 |
| PKN3 | protein phosphorylation; signal transduction; epithelial cell migration | 9q34.11 |
| PKNOX1 | positive regulation of transcription from RNA polymerase II promoter; camera-type eye development; erythrocyte differentiation; T cell differentiation; hemopoiesis; regulation of transcription, DNA-dependent; angiogenesis; transcription from RNA polymerase II promoter | 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 | cell-cell adhesion; heart development | 12p11 |
| PKP3 | cell adhesion | 11p15 |
| PKP4 | positive regulation of cell cycle cytokinesis; positive regulation of Rho GTPase activity; cell adhesion | 2q24.1 |
| PKP4P1 | - | 2q34 |
| PLA1A | phosphatidylserine metabolic process; lipid metabolic process; lipid catabolic process | 3q13.13-q13.2 |
| PLA2G10 | positive regulation of macrophage derived foam cell differentiation; positive regulation of lipid storage; lipid catabolic process; axon guidance; phospholipid metabolic process; positive regulation of cellular protein metabolic process; positive regulation of prostaglandin secretion; cholesterol homeostasis; regulation of macrophage activation; lysophospholipid transport; arachidonic acid metabolic process; positive regulation of arachidonic acid secretion; negative regulation of cholesterol efflux; negative regulation of sequence-specific DNA binding transcription factor activity | 16p13.1-p12 |
| PLA2G12A | phospholipid metabolic process; metabolic process; lipid catabolic process | 4q25 |
| PLA2G15 | phosphatidylcholine metabolic process; fatty acid catabolic process; ceramide metabolic process; lipid metabolic process | 16q22.1 |
| PLA2G16 | phospholipid metabolic process; lipid catabolic process; negative regulation of cell cycle | 11q12.3 |
| PLA2G2A | positive regulation of inflammatory response; defense response to Gram-positive bacterium; lipid catabolic process; low-density lipoprotein particle remodeling; phosphatidic acid metabolic process; positive regulation of macrophage derived foam cell differentiation; phospholipid metabolic process | 1p35 |
| PLA2G2C | lipid catabolic process; phospholipid metabolic process | 1p36.12 |
| PLA2G2D | lipid catabolic process; inflammatory response; phospholipid metabolic process | 1p36.12 |
| PLA2G2F | lipid catabolic process; phospholipid metabolic process | 1p35 |
| PLA2G3 | cilium morphogenesis; cell projection organization; lipid catabolic process; phospholipid metabolic process | 22q12.2 |
| PLA2G4A | ovulation from ovarian follicle; aging; blood coagulation; response to heat; metabolic process; positive regulation of cell proliferation; luteolysis; platelet activating factor biosynthetic process; icosanoid metabolic process; phospholipid catabolic process; cellular response to antibiotic; response to methylmercury; response to calcium ion; response to glucocorticoid stimulus; positive regulation of inflammatory response; arachidonic acid secretion; decidualization; icosanoid biosynthetic process; surfactant homeostasis; positive regulation of apoptotic process; response to hydrogen peroxide; response to lipopolysaccharide; response to hormone stimulus; response to organic nitrogen; lipid catabolic process; arachidonic acid metabolic process; platelet activation; positive regulation of bone mineralization; positive regulation of vesicle fusion; positive regulation of prostaglandin biosynthetic process; positive regulation of fever generation; response to vitamin D | 1q25 |
| PLA2G4B | glycerophospholipid catabolic process; endoplasmic reticulum unfolded protein response; calcium-mediated signaling; arachidonic acid metabolic process; lipid catabolic process; metabolic process; parturition; activation of signaling protein activity involved in unfolded protein response; inflammatory response | 15q11.2-q21.3 |
| PLA2G4C | intracellular signal transduction; phospholipid metabolic process; inflammatory response; parturition; metabolic process; lipid catabolic process; arachidonic acid metabolic process; glycerophospholipid catabolic process | 19q13.3 |
| PLA2G4D | lipid catabolic process; metabolic process; phospholipid catabolic process | 15q15.1 |
| PLA2G4E | metabolic process; phospholipid catabolic process; lipid catabolic process | 15q15.1 |
| PLA2G4F | fatty acid transport; metabolic process; phospholipid catabolic process; lipid catabolic process; arachidonic acid secretion; prostaglandin biosynthetic process; cellular response to antibiotic; cellular response to organic cyclic compound | 15q15.1 |
| PLA2G5 | phospholipid metabolic process; platelet activating factor biosynthetic process; lipid catabolic process; leukotriene biosynthetic process; response to cytokine stimulus; arachidonic acid secretion; response to cAMP | 1p36-p34 |
| PLA2G6 | metabolic process; cardiolipin biosynthetic process; lipid catabolic process; cell death | 22q13.1 |
| PLA2G7 | lipid catabolic process; positive regulation of monocyte chemotaxis; positive regulation of inflammatory response; low-density lipoprotein particle remodeling; plasma lipoprotein particle oxidation; lipid oxidation | 6p21.2-p12 |
| PLA2R1 | regulation of phospholipase A2 activity; receptor-mediated endocytosis; endocytosis; cytokine production; oxidative stress-induced premature senescence; replicative senescence; reactive oxygen species metabolic process; regulation of arachidonic acid secretion; positive regulation of arachidonic acid secretion; positive regulation of DNA damage response, signal transduction by p53 class mediator | 2q23-q24 |
| PLAA | inflammatory response; phospholipid metabolic process; positive regulation of catalytic activity; 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 glial cell proliferation; organ growth; multicellular organism growth; gland morphogenesis; negative regulation of gene expression; positive regulation of gene expression; regulation of transcription, DNA-dependent | 8q12 |
| PLAGL1 | positive regulation of transcription from RNA polymerase II promoter; regulation of gene expression; cell cycle arrest; induction of apoptosis; regulation of transcription, DNA-dependent | 6q24-q25 |
| PLAGL2 | induction of apoptosis; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 20q11.21 |
| PLAT | protein modification process; proteolysis; blood coagulation; plasminogen activation; fibrinolysis; negative regulation of proteolysis | 8p12 |
| PLAU | fibrinolysis; skeletal muscle tissue regeneration; response to hyperoxia; regulation of wound healing; regulation of smooth muscle cell-matrix adhesion; angiogenesis; regulation of cell adhesion mediated by integrin; response to hypoxia; proteolysis; chemotaxis; signal transduction; embryo implantation; blood coagulation; regulation of receptor activity; regulation of smooth muscle cell migration; regulation of cell proliferation | 10q22.2 |
| PLAUR | epithelial cell differentiation involved in prostate gland development; mesenchymal cell differentiation; cellular protein metabolic process; post-translational protein modification; skeletal muscle tissue regeneration; regulation of proteolysis; negative regulation of apoptotic process; fibrinolysis; attachment of GPI anchor to protein; negative regulation of gene expression; positive regulation of gene expression; blood coagulation; signal transduction; chemotaxis; cellular component movement; C-terminal protein lipidation | 19q13 |
| PLB1 | lipid catabolic process; small molecule metabolic process; retinoid metabolic process; steroid metabolic process | 2p23.2 |
| PLBD1 | lipid catabolic process | 12p13.1 |
| PLBD2 | lipid catabolic process | 12q24.13 |
| PLCB1 | response to organic nitrogen; positive regulation of acrosome reaction; positive regulation of JNK cascade; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of myoblast differentiation; fat cell differentiation; positive regulation of GTPase activity; response to peptide hormone stimulus; response to monosaccharide stimulus; lipid catabolic process; cerebral cortex development; positive regulation of embryonic development; CD24 biosynthetic process; positive regulation of interleukin-12 production; interleukin-15-mediated signaling pathway; interleukin-12-mediated signaling pathway; intracellular signal transduction; memory; regulation of fertilization; negative regulation of monocyte extravasation; interleukin-1-mediated signaling pathway; activation of meiosis involved in egg activation; G1 phase; positive regulation of developmental growth; G2/M transition of mitotic cell cycle; signal transduction; G-protein coupled acetylcholine | 20p12 |
| PLCB1-IT1 | - | - |
| PLCB2 | phospholipid metabolic process; detection of chemical stimulus involved in sensory perception of bitter taste; intracellular signal transduction; lipid catabolic process; synaptic transmission; activation of phospholipase C activity | 15q15 |
| PLCB3 | post-Golgi vesicle-mediated transport; lipid catabolic process; synaptic transmission; G-protein coupled receptor signaling pathway; intracellular signal transduction | 11q13 |
| PLCB4 | lipid metabolic process; lipid catabolic process; intracellular signal transduction | 20p12 |
| PLCD1 | lipid catabolic process; intracellular signal transduction; phospholipid metabolic process | 3p22-p21.3 |
| PLCD3 | angiogenesis; lipid catabolic process; intracellular signal transduction; regulation of cell proliferation; labyrinthine layer blood vessel development | 17q21.31 |
| PLCD4 | acrosome reaction; lipid catabolic process; intracellular signal transduction | 2q35 |
| PLCE1 | lipid catabolic process; epidermal growth factor receptor signaling pathway; cell proliferation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; cytoskeleton organization; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; elevation of cytosolic calcium ion concentration; Ras protein signal transduction; heart development; regulation of G-protein coupled receptor protein signaling pathway; calcium-mediated signaling; glomerulus development; regulation of protein kinase activity; regulation of Ras protein signal transduction; inositol phosphate-mediated signaling; regulation of smooth muscle contraction; diacylglycerol biosynthetic process; phospholipid metabolic process; regulation of cell growth; activation of MAPK activity | 10q23 |
| PLCE1-AS1 | - | 10q23.33 |
| PLCG1 | cellular response to epidermal growth factor stimulus; cytokine-mediated signaling pathway; 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; intracellular signal transduction; positive regulation of blood vessel endothelial cell migration; interspecies interaction between organisms; positive regulation of angiogenesis; nerve growth factor receptor signaling pathway; T cell receptor signaling pathway; leukocyte migration | 20q12-q13.1 |
| PLCG1-AS1 | - | - |
| PLCG2 | response to ATP; calcium-mediated signaling; inositol trisphosphate biosynthetic process; response to lipopolysaccharide; activation of store-operated calcium channel activity; response to magnesium ion; B cell differentiation; platelet activation; Wnt receptor signaling pathway; lipid catabolic process; regulation of gene expression; phospholipid catabolic process; blood coagulation; elevation of cytosolic calcium ion concentration; phosphatidylinositol biosynthetic process; follicular B cell differentiation; negative regulation of programmed cell death; T cell receptor signaling pathway; B cell receptor signaling pathway; release of sequestered calcium ion into cytosol; intracellular signal transduction | 16q24.1 |
| PLCH1 | lipid catabolic process; phosphatidylinositol-mediated signaling; intracellular signal transduction | 3q25.31 |
| PLCH1-AS1 | - | - |
| PLCH2 | lipid catabolic process; intracellular signal transduction; phosphatidylinositol metabolic process | 1p36.32 |
| PLCL1 | intracellular signal transduction; behavior; lipid metabolic process | 2q33 |
| PLCL2 | lipid metabolic process; intracellular signal transduction | 3p24.3 |
| PLCL2-AS1 | - | - |
| PLCXD1 | intracellular signal transduction; lipid metabolic process | Xp22.33; Yp11.32 |
| PLCXD2 | intracellular signal transduction; lipid catabolic process | 3q13.2 |
| PLCXD3 | lipid catabolic process; intracellular signal transduction | 5p13.1 |
| PLCZ1 | calcium ion transport; multicellular organismal development; lipid metabolic process; egg activation; metabolic process; lipid catabolic process; intracellular signal transduction | 12p12.3 |
| PLD1 | small GTPase mediated signal transduction; Ras protein signal transduction; phospholipid biosynthetic process; phospholipid catabolic process; lipid catabolic process; positive regulation of cell migration; response to peptide hormone stimulus; defense response to Gram-positive bacterium; cell communication; phosphatidic acid biosynthetic process; chemotaxis | 3q26 |
| PLD2 | positive regulation of phosphatidylinositol 3-kinase cascade; response to hypoxia; G-protein coupled receptor internalization; cytoskeleton organization; cell communication; small GTPase mediated signal transduction; phospholipid catabolic process; positive regulation of receptor-mediated endocytosis; positive regulation of cell adhesion; response to peptide hormone stimulus; positive regulation of mast cell degranulation; response to hydrogen peroxide; neuron projection development; positive regulation of cell migration; lipid catabolic process; response to organic cyclic compound | 17p13.1 |
| PLD3 | lipid catabolic process | 19q13.2 |
| PLD4 | lipid catabolic process | 14q32.33 |
| PLD5 | - | 1q43 |
| PLD6 | spermatid development; P granule organization; piRNA metabolic process; cell differentiation; DNA methylation involved in gamete generation; lipid catabolic process; mitochondrial fusion; spermatogenesis; meiosis | 17p11.2 |
| PLEC | apoptotic process; cellular component disassembly involved in apoptosis; hemidesmosome assembly; cell junction assembly | 8q24 |
| PLEK | thrombin receptor signaling pathway; negative regulation of calcium-mediated signaling; positive regulation of platelet activation; negative regulation of inositol phosphate biosynthetic process; positive regulation of inositol-polyphosphate 5-phosphatase activity; cell projection organization; platelet activation; positive regulation of actin filament depolymerization; inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway; cortical actin cytoskeleton organization; ruffle organization; actin cytoskeleton reorganization; positive regulation of actin filament bundle assembly; positive regulation of integrin activation; intracellular signal transduction; negative regulation of G-protein coupled receptor protein signaling pathway; phosphatidylinositol metabolic process; regulation of cell diameter; platelet aggregation; protein kinase C signaling cascade; protein secretion by platelet; blood coagulation; integrin-mediated signaling pathway; vesicle docking involved in exo | 2p13.3 |
| PLEK2 | actin cytoskeleton organization; intracellular signal transduction | 14q23.3 |
| PLEKHA1 | face morphogenesis; cellular response to hydrogen peroxide; palate development; negative regulation of protein kinase B signaling cascade; B cell receptor signaling pathway; female gonad development; platelet-derived growth factor receptor signaling pathway; estrogen metabolic process; post-embryonic development; phosphatidylinositol 3-kinase cascade; ruffle organization; Leydig cell differentiation; androgen metabolic process; spermatogenesis; multicellular organism growth; establishment of protein localization; luteinization; skeletal system morphogenesis | 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 | phototransduction; multicellular organismal development; signal transduction | 11q13.5-q14.1 |
| PLEKHB2 | - | 2q21.1 |
| PLEKHF1 | apoptotic process | 19q12 |
| PLEKHF2 | - | 8q22.1 |
| PLEKHG1 | regulation of Rho protein signal transduction | 6q25.1 |
| PLEKHG2 | 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; 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 | apoptotic process; regulation of small GTPase mediated signal transduction; regulation of Rho protein signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade; nerve growth factor receptor signaling pathway; signal transduction; cell death; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals | 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 | fibrinolysis; negative regulation of cell-cell adhesion mediated by cadherin; positive regulation of fibrinolysis; negative regulation of fibrinolysis; tissue remodeling; platelet activation; extracellular matrix disassembly; negative regulation of cell-substrate adhesion; negative regulation of cell proliferation; blood coagulation; proteolysis; platelet degranulation | 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 drug; response to organic cyclic compound; small molecule metabolic process; cellular lipid metabolic process; lipid storage; long-chain fatty acid transport | 9p22.1 |
| PLIN3 | vesicle-mediated transport | 19p13.3 |
| PLIN4 | - | 19p13.3 |
| PLIN5 | - | 19p13.3 |
| PLK1 | mitotic prophase; negative regulation of cyclin-dependent protein kinase activity; protein localization to chromatin; regulation of cell cycle; positive regulation of ubiquitin-protein ligase activity; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; centrosome organization; response to antibiotic; positive regulation of proteolysis; regulation of mitotic anaphase; regulation of protein binding; negative regulation of apoptotic process; polar body extrusion after meiotic divisions; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; protein destabilization; G2/M transition DNA damage checkpoint; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; G2/M transition of mitotic cell cycle; protein ubiquitination; positive regulation of peptidyl-threonine phosphorylation; cell proliferation; regulation of mitotic cell cycle; | 16p12.2 |
| PLK2 | regulation of centriole replication; long term synaptic depression; long-term synaptic potentiation; regulation of synaptic plasticity; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of apoptotic process; G1/S transition of mitotic cell cycle; protein phosphorylation; mitotic spindle organization; mitotic cell cycle checkpoint; signal transduction; Ras protein signal transduction; memory; Rap protein signal transduction | 5q12.1-q13.2 |
| PLK3 | response to radiation; 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; cell cycle; positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia; Golgi disassembly; mitotic cell cycle G2/M transition checkpoint; G1/S transition checkpoint; protein kinase B signaling cascade; negative regulation of apoptotic process; endomitotic cell cycle; response to DNA damage stimulus | 1p34.1 |
| PLK4 | mitotic cell cycle; trophoblast giant cell differentiation; positive regulation of centriole replication; centriole replication; protein phosphorylation; G2/M transition of mitotic cell cycle | 4q28 |
| PLK5 | G2/M transition DNA damage checkpoint; regulation of G1/S transition of mitotic cell cycle; defense response to tumor cell; transformed cell apoptosis; cell cycle; mitosis; positive regulation of neuron projection development; cell differentiation; cell division; cellular response to growth factor stimulus | 19p13.3 |
| PLLP | response to wounding; ion transport; myelination | 16q13 |
| PLN | blood circulation; regulation of the force of heart contraction; cellular calcium ion homeostasis; regulation of calcium ion transport; negative regulation of heart contraction; cardiac muscle tissue development | 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 | in utero embryonic development; endothelial cell morphogenesis; protein localization; neural tube development; collagen fibril organization; cellular response to hormone stimulus; vasodilation; epidermis morphogenesis; lung morphogenesis; basement membrane assembly; protein modification process | 7q22 |
| PLP1 | cell maturation; long-chain fatty acid biosynthetic process; central nervous system myelination; positive regulation of gene expression; integrin-mediated signaling pathway; synaptic transmission; cell death; axon ensheathment; glial cell differentiation | Xq22 |
| PLP2 | ion transport; chemotaxis; cytokine-mediated signaling pathway; ion transmembrane transport | Xp11.23 |
| PLPP1 | germ cell migration; negative regulation of cell proliferation; regulation of lipid metabolic process; sphingolipid biosynthetic process; intracellular steroid hormone receptor signaling pathway; androgen receptor signaling pathway; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; small molecule metabolic process; sphingolipid metabolic process; lipid metabolic process; phospholipid dephosphorylation | 5q11 |
| PLPP2 | sphingolipid biosynthetic process; sphingolipid metabolic process; small molecule metabolic process | 19p13 |
| PLPP3 | canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration; sphingolipid biosynthetic process; small molecule metabolic process; homotypic cell-cell adhesion; blood vessel development; canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion; canonical Wnt receptor signaling pathway involved in positive regulation of wound healing; positive regulation of peptidyl-tyrosine phosphorylation; protein stabilization; positive regulation of sequence-specific DNA binding transcription factor activity; regulation of Wnt receptor signaling pathway; dephosphorylation; germ cell migration; sphingolipid metabolic process; phospholipid metabolic process; lipid metabolic process; negative regulation of protein phosphorylation; gastrulation with mouth forming second | 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 | nuclear mRNA splicing, via spliceosome; RNA splicing; signal transduction | 4q31.2-q32.1 |
| PLS1 | - | 3q23 |
| PLS1-AS1 | - | - |
| PLS3 | - | Xq23 |
| PLS3-AS1 | - | Xq23 |
| PLSCR1 | phosphatidylserine biosynthetic process; apoptotic process; 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; positive regulation of innate immune response; 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 | 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 | signal transduction; multicellular organismal development; axon guidance; dichotomous subdivision of terminal units involved in salivary gland branching; semaphorin-plexin signaling pathway | 3q21.3 |
| PLXNA2 | somitogenesis; multicellular organismal development; axon guidance; neural tube development; cerebellar granule cell precursor tangential migration; regulation of cell migration; centrosome localization; pharyngeal system development; limb bud formation; semaphorin-plexin signaling pathway | 1q32.2 |
| PLXNA3 | hippocampus development; axon guidance; multicellular organismal development; signal transduction; pyramidal neuron development; negative regulation of axon extension involved in axon guidance; semaphorin-plexin signaling pathway; positive regulation of cytoskeleton organization; negative chemotaxis | Xq28 |
| PLXNA4 | semaphorin-plexin signaling pathway; facial nerve morphogenesis; axon guidance; nervous system development; multicellular organismal development; signal transduction; regulation of axon extension involved in axon guidance; neuron projection morphogenesis; sympathetic nervous system development; glossopharyngeal nerve morphogenesis; trigeminal nerve morphogenesis; anterior commissure morphogenesis; chemorepulsion of branchiomotor axon; regulation of negative chemotaxis; postganglionic parasympathetic nervous system development; vagus nerve morphogenesis | 7q32.3 |
| PLXNB1 | positive regulation of Rho GTPase activity; axon guidance; negative regulation of osteoblast proliferation; intracellular signal transduction; ossification involved in bone maturation; semaphorin-plexin signaling pathway; trabecula morphogenesis; regulation of cytoskeleton organization; regulation of small GTPase mediated signal transduction; positive regulation of axonogenesis; neuron projection morphogenesis; cell migration; positive regulation of phosphatidylinositol 3-kinase cascade; regulation of cell shape; multicellular organismal development; signal transduction | 3p21.31 |
| PLXNB2 | brain development; neural tube closure; regulation of protein phosphorylation; signal transduction; multicellular organismal development; neuroblast proliferation; regulation of cell shape; regulation of Rho GTPase activity; positive regulation of axonogenesis; regulation of small GTPase mediated signal transduction; semaphorin-plexin signaling pathway; regulation of neuron migration | 22q13.33 |
| PLXNB3 | axon guidance; multicellular organismal development; signal transduction | Xq28 |
| PLXNC1 | signal transduction; multicellular organismal development; cell adhesion; axon guidance | 12q23.3 |
| PLXND1 | semaphorin-plexin signaling pathway; dichotomous subdivision of terminal units involved in salivary gland branching; regulation of angiogenesis; endothelial cell migration; regulation of cell migration; synapse assembly; axon guidance; multicellular organismal development; signal transduction; patterning of blood vessels; angiogenesis | 3q22.1 |
| PM20D1 | metabolic process; proteolysis | 1q32.1 |
| PM20D2 | metabolic process | 6q15 |
| PMAIP1 | negative regulation of fibroblast proliferation; signal transduction by p53 class mediator resulting in induction of apoptosis; reactive oxygen species metabolic process; positive regulation of release of cytochrome c from mitochondria; positive regulation of intrinsic apoptotic signaling pathway; apoptotic process; cellular response to hypoxia; regulation of mitochondrial membrane permeability; positive regulation of neuron apoptosis; positive regulation of DNA damage response, signal transduction by p53 class mediator; response to dsRNA; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of apoptotic process; T cell homeostasis; cellular response to glucose starvation; positive regulation of protein oligomerization; negative regulation of mitochondrial membrane potential; positive regulation of glucose metabolic process; proteasomal protein catabolic process; response to X-ray; response to UV; activation of pro-apoptotic gene products; induction of | 18q21.32 |
| PMCH | regulation of neuronal synaptic plasticity; signal transduction; positive regulation of circadian sleep/wake cycle, REM sleep; negative regulation of blood pressure; drinking behavior; glucose homeostasis; negative regulation of synaptic transmission, dopaminergic; cell differentiation; response to cold; feeding behavior; behavior; lactation; spermatogenesis; multicellular organismal development; synaptic transmission; neuropeptide signaling pathway; elevation of cytosolic calcium ion concentration; regulation of heart rate | 12q23.2 |
| PMEL | melanin biosynthetic process; melanosome organization | 12q13-q14 |
| PMEPA1 | androgen receptor signaling pathway | 20q13.31-q13.33 |
| PMF1 | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; chromosome segregation; cell division | 1q12 |
| PMFBP1 | - | 16q22.2 |
| PML | protein targeting; interferon-gamma-mediated signaling pathway; response to cytokine stimulus; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; 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; interspecies interaction between organisms; branching involved in mammary gland duct morphogenesis; negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; positive regulation of extrinsic apoptotic signaling pathway; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; protein complex assembly; positive regulation of defense response to virus by host; regulation of protein phosphorylation; response to hy | 15q22 |
| PMM1 | dolichol-linked oligosaccharide biosynthetic process; GDP-mannose biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process; mannose metabolic process | 22q13.2 |
| PMM2 | cellular protein metabolic process; protein glycosylation; dolichol-linked oligosaccharide biosynthetic process; GDP-mannose biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification | 16p13 |
| PMP2 | - | 8q21.3-q22.1 |
| PMP22 | cell differentiation; myelin assembly; synaptic transmission; peripheral nervous system development; negative regulation of cell proliferation; negative regulation of neuron projection development | 17p12 |
| PMPCA | proteolysis | 9q34.3 |
| PMPCB | proteolysis | 7q22.1 |
| PMS1 | ATP catabolic process; mismatch repair; reciprocal meiotic recombination | 2q31.1 |
| PMS2 | mismatch repair; response to drug; somatic recombination of immunoglobulin gene segments; somatic hypermutation of immunoglobulin genes; reciprocal meiotic recombination; ATP catabolic process | 7p22.2 |
| PMS2CL | response to drug; mismatch repair; somatic hypermutation of immunoglobulin genes; somatic recombination of immunoglobulin gene segments | 7p22.1 |
| PMS2P1 | reciprocal meiotic recombination; somatic hypermutation of immunoglobulin genes; mismatch repair; ATP catabolic process | 7q22.1 |
| PMS2P12 | - | 7q22.1 |
| PMS2P2 | reciprocal meiotic recombination; ATP catabolic process; mismatch repair; somatic hypermutation of immunoglobulin genes | 7q11.23 |
| PMS2P3 | regulation of transcription, DNA-dependent | 7q11.23 |
| PMS2P4 | - | 7q11.22 |
| PMS2P5 | somatic hypermutation of immunoglobulin genes; reciprocal meiotic recombination; mismatch repair; ATP catabolic process | 7q11.23 |
| PMS2P6 | - | 7q11.23 |
| PMS2P8 | - | 7q11.23 |
| PMVK | cholesterol biosynthetic process; isoprenoid biosynthetic process; isopentenyl diphosphate biosynthetic process, mevalonate pathway; small molecule metabolic process; response to cholesterol | 1q22 |
| PNCK | - | Xq28 |
| PNISR | - | 6q16.3 |
| PNKD | - | 2q35 |
| PNKP | nucleotide-excision repair, DNA damage removal; DNA-dependent DNA replication; DNA repair; nucleotide phosphorylation; response to oxidative stress; response to radiation; dephosphorylation; DNA damage response, detection of DNA damage | 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 | lipid metabolic process; triglyceride metabolic process; phospholipid catabolic process; lipid catabolic process; galactolipid catabolic process; small molecule metabolic process; lipid digestion | 10q25.3 |
| PNLIPRP3 | lipid catabolic process | 10q25.3 |
| PNMA1 | inflammatory response to antigenic stimulus; apoptotic process; spermatogenesis; central nervous system development | 14q24.3 |
| PNMA2 | apoptotic process | 8p21.2 |
| PNMA3 | apoptotic process | Xq28 |
| PNMA5 | apoptotic process | Xq28 |
| PNMA6A | - | Xq28 |
| PNMAL1 | - | 19q13.32 |
| PNMAL2 | - | 19q13.32 |
| PNMT | catecholamine biosynthetic process; cellular nitrogen compound metabolic 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 | purine base metabolic process; interleukin-2 secretion; response to drug; nucleobase-containing small molecule metabolic process; positive regulation of alpha-beta T cell differentiation; small molecule metabolic process; nucleobase-containing compound metabolic process; inosine catabolic process; purine nucleotide catabolic process; nicotinamide riboside catabolic process; immune response; nucleoside metabolic process; purine-containing compound salvage; 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 | negative regulation of sequestering of triglyceride; metabolic process; lipid catabolic process; positive regulation of triglyceride catabolic process | 11p15.5 |
| PNPLA3 | triglyceride catabolic process; triglyceride biosynthetic process; lipid catabolic process; metabolic process | 22q13.31 |
| PNPLA4 | metabolic process; lipid catabolic process | Xp22.3 |
| PNPLA5 | lipid catabolic process; metabolic process | 22q13.31 |
| PNPLA6 | cell death; metabolic process; phosphatidylcholine metabolic process; lipid catabolic process | 19p13.2 |
| PNPLA7 | lipid metabolic process; metabolic process | 9q34.3 |
| PNPLA8 | lipid catabolic process; fatty acid metabolic process; metabolic process | 7q31 |
| PNPO | pyridoxal phosphate biosynthetic process; vitamin B6 metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; pyridoxine biosynthetic process; small molecule metabolic process | 17q21.32 |
| PNPT1 | positive regulation of mitochondrial RNA catabolic process; mitochondrial RNA 5'-end processing; mitochondrial mRNA catabolic process; mitochondrial RNA 3'-end processing; mRNA polyadenylation; mRNA processing; positive regulation of mRNA catabolic process; RNA catabolic process; regulation of cellular senescence; positive regulation of miRNA catabolic process; regulation of cellular respiration; RNA polyadenylation; negative regulation of growth; protein homooligomerization; rRNA import into mitochondrion; RNA import into mitochondrion; protein homotrimerization; mitochondrion morphogenesis; cellular response to interferon-beta; mitotic cell cycle arrest; nuclear polyadenylation-dependent mRNA catabolic process; cellular response to oxidative stress; transport; mRNA catabolic process | 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 | cilium assembly; cell projection organization | 12q21.33 |
| POC5 | cell cycle | 5q13.3 |
| PODN | negative regulation of cell migration; negative regulation of cell proliferation | 1p32.3 |
| PODNL1 | - | 19p13.12 |
| PODXL | positive regulation of cell migration; negative regulation of cell adhesion; epithelial tube formation; glomerular visceral epithelial cell development; leukocyte migration; positive regulation of cell-cell adhesion mediated by integrin; regulation of microvillus assembly; cell migration; negative regulation of cell-cell adhesion | 7q32-q33 |
| PODXL2 | cell adhesion; leukocyte tethering or rolling | 3q21.3 |
| POF1B | - | Xq21.2 |
| POFUT1 | O-glycan processing; nervous system development; heart development; embryo development; regulation of transcription, DNA-dependent; fucosylation; protein O-linked fucosylation; angiogenesis; somitogenesis; carbohydrate metabolic process; fucose metabolic process; protein O-linked glycosylation; Notch signaling pathway | 20q11 |
| POFUT2 | fucose metabolic process; carbohydrate metabolic process | 21q22.3 |
| POGK | regulation of transcription, DNA-dependent; multicellular organismal development | 1q24.1 |
| POGLUT1 | - | 3q13.33 |
| POGZ | regulation of transcription, DNA-dependent; cell cycle; mitotic sister chromatid cohesion; cell division; kinetochore assembly | 1q21.3 |
| POLA1 | telomere maintenance; M/G1 transition of mitotic cell cycle; telomere maintenance via recombination; mitotic cell cycle; leading strand elongation; lagging strand elongation; DNA replication 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; DNA repair; double-strand break repair via nonhomologous end joining; cell proliferation; telomere maintenance via semi-conservative replication; interspecies interaction between organisms; 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 | Xp22.1-p21.3 |
| POLA2 | 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-dependent DNA replication initiation; DNA strand elongation involved in DNA replication; telomere maintenance via semi-conservative replication; G1/S transition of mitotic cell cycle; protein import into nucleus, translocation | 11q13.1 |
| POLB | cell death; response to ethanol; response to DNA damage stimulus; anti-apoptosis; nucleotide-excision repair, DNA gap filling; pyrimidine dimer repair; base-excision repair, gap-filling; base-excision repair; DNA repair; DNA-dependent DNA replication | 8p11.2 |
| POLD1 | regulation of mitotic cell cycle; DNA replication proofreading; DNA replication, removal of RNA primer; telomere maintenance via semi-conservative replication; response to UV; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; base-excision repair; 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; base-excision repair, gap-filling; DNA replication; DNA strand elongation involved in DNA replication; DNA repair; transcription-coupled nucleotide-excision repair | 19q13.3 |
| POLD2 | mitotic cell cycle; telomere maintenance via semi-conservative replication; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; base-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; DNA strand elongation involved in DNA replication; DNA replication; telomere maintenance; telomere maintenance via recombination; S phase of mitotic cell cycle | 7p13 |
| POLD3 | mitotic cell cycle; mismatch repair; S phase of mitotic cell cycle; telomere maintenance via recombination; telomere maintenance; DNA synthesis involved in DNA repair; DNA-dependent DNA replication; DNA strand elongation involved in DNA replication; DNA repair; transcription-coupled nucleotide-excision repair; base-excision repair; nucleotide-excision repair; nucleotide-excision repair, DNA gap filling; telomere maintenance via semi-conservative replication | 11q14 |
| POLD4 | DNA replication; positive regulation of endothelial cell proliferation; telomere maintenance; telomere maintenance via recombination; mitotic cell cycle; S phase of mitotic cell cycle; base-excision repair; nucleotide-excision repair; DNA strand elongation involved in DNA replication; nucleotide-excision repair, DNA gap filling; telomere maintenance via semi-conservative replication; DNA repair; transcription-coupled nucleotide-excision repair | 11q13 |
| POLDIP2 | - | 17q11.2 |
| POLDIP3 | positive regulation of translation | 22q13.2 |
| POLE | nucleotide-excision repair, DNA gap filling; telomere maintenance via semi-conservative replication; nucleotide-excision repair; base-excision repair, gap-filling; transcription-coupled nucleotide-excision repair; DNA repair; DNA-dependent DNA replication initiation; 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; G1/S transition of mitotic cell cycle; in utero embryonic development | 12q24.3 |
| POLE2 | telomere maintenance via recombination; telomere maintenance via semi-conservative replication; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; DNA-dependent DNA replication initiation; DNA replication; telomere maintenance; mitotic cell cycle; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle | 14q21-q22 |
| POLE3 | DNA replication; histone H3 acetylation | 9q33 |
| POLE4 | histone H3 acetylation | 2p12 |
| POLG | aging; cell death; metabolic process; mitochondrial DNA replication; DNA-dependent DNA replication; DNA metabolic process; base-excision repair, gap-filling | 15q25 |
| POLG2 | DNA repair; glycyl-tRNA aminoacylation; DNA replication; metabolic process; DNA-dependent DNA replication | 17q |
| POLH | DNA synthesis involved in DNA repair; DNA replication; DNA repair; regulation of DNA repair; pyrimidine dimer repair; postreplication repair; response to UV-C | 6p21.1 |
| POLI | DNA repair; metabolic process; DNA replication | 18q21.1 |
| POLK | DNA replication; DNA repair; nucleotide-excision repair, DNA gap filling | 5q13 |
| POLL | nucleotide-excision repair; metabolic process; somatic hypermutation of immunoglobulin genes; DNA replication; DNA repair | 10q23 |
| POLM | DNA repair; somatic hypermutation of immunoglobulin genes; B cell differentiation; DNA recombination | 7p13 |
| POLN | DNA replication; DNA repair | 4p16.3 |
| POLQ | DNA repair; DNA replication | 3q13.33 |
| POLR1A | gene expression; rRNA transcription; 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 | 2p11.2 |
| POLR1B | transcription from RNA polymerase I promoter; gene expression; transcription initiation from RNA polymerase I promoter; transcription elongation from RNA polymerase I promoter; termination of RNA polymerase I transcription; embryo implantation; rRNA transcription; nucleologenesis; embryo development | 2q13 |
| POLR1C | 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; gene expression; termination of RNA polymerase III transcription; transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase III promoter | 6p21.1 |
| POLR1D | transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription; gene expression; 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 | 13q12.2 |
| POLR1E | rRNA transcription | 9p13.2 |
| POLR2A | mRNA capping; transcription-coupled nucleotide-excision repair; protein phosphorylation; RNA splicing; positive regulation of viral transcription; 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, DNA-dependent; nucleotide-excision repair; DNA repair; nuclear mRNA splicing, via spliceosome | 17p13.1 |
| POLR2B | DNA repair; transcription-coupled nucleotide-excision repair; nuclear mRNA splicing, via spliceosome; 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; transcription from RNA polymerase II promoter; nucleotide-excision repair | 4q12 |
| POLR2C | 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 | 16q13-q21 |
| POLR2CP | - | 21q11.2 |
| POLR2D | transcription 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; transcription initiation from RNA polymerase II promoter; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; nuclear mRNA splicing, via spliceosome | 2q21 |
| POLR2E | transcription from RNA polymerase II promoter; interspecies interaction between organisms; nuclear mRNA splicing, via spliceosome; DNA repair; transcription-coupled nucleotide-excision repair; positive regulation of viral transcription; viral reproduction; gene expression; RNA splicing; termination of RNA polymerase III transcription; nucleotide-excision repair; 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; protein phosphorylation | 19p13.3 |
| POLR2F | 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; nuclear mRNA splicing, via spliceosome; DNA repair; 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 | 22q13.1 |
| POLR2G | protein phosphorylation; positive regulation of viral transcription; nuclear mRNA splicing, via spliceosome; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; viral reproduction; gene expression; RNA splicing; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; mRNA capping; apoptotic process | 11q13.1 |
| POLR2H | viral reproduction; DNA repair; positive regulation of viral transcription; 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; 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; transcription, DNA-dependent; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; nuclear mRNA splicing, via spliceosome | 3q28 |
| POLR2I | nucleotide-excision repair; nuclear mRNA splicing, via spliceosome; 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; transcription-coupled nucleotide-excision repair; DNA repair; transcription elongation from RNA polymerase II promoter | 19q12 |
| POLR2J | viral reproduction; positive regulation of viral transcription; 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; transcription elongation from RNA polymerase II promoter; DNA repair; nuclear mRNA splicing, via spliceosome | 7q22.1 |
| POLR2J2 | - | 7q22.1 |
| POLR2J3 | - | 7q22.1 |
| POLR2J4 | - | 7p13 |
| POLR2K | 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 from RNA polymerase I promoter; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; nuclear mRNA splicing, via spliceosome; termination of RNA polymerase III transcription; transcription elongation from RNA polymerase III promoter; RNA splicing; gene expression; viral reproduction; positive regulation of viral transcription; transcription from RNA polymerase III promoter | 8q22.2 |
| POLR2KP2 | - | 13q14.2 |
| POLR2L | transcription elongation from RNA polymerase II promoter; 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; mRNA capping; 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 | 11p15 |
| POLR2M | maintenance of ER location | 15q21.3 |
| POLR3A | transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription; transcription, DNA-dependent; transcription from RNA polymerase III promoter; response to virus; gene expression; positive regulation of interferon-beta production; innate immune response | 10q22-q23 |
| POLR3B | positive regulation of interferon-beta production; gene expression; 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 | 12q23.3 |
| POLR3C | positive regulation of innate immune response; positive regulation of interferon-beta production; transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription; regulation of transcription from RNA polymerase III promoter; transcription from RNA polymerase III promoter; response to virus; gene expression | 1q21.1 |
| POLR3D | positive regulation of innate immune response; transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription; response to virus; gene expression; positive regulation of interferon-beta production | 8q21 |
| POLR3DP1 | - | - |
| POLR3E | termination of RNA polymerase III transcription; transcription from RNA polymerase III promoter; innate immune response; transcription elongation from RNA polymerase III promoter; response to virus; gene expression | 16p12.2 |
| POLR3F | transcription, DNA-dependent; transcription elongation from RNA polymerase III promoter; response to virus; termination of RNA polymerase III transcription; transcription from RNA polymerase III promoter; gene expression; positive regulation of innate immune response; positive regulation of interferon-beta production; regulation of transcription from RNA polymerase III promoter | 20p11.23 |
| POLR3G | regulation of transcription from RNA polymerase III promoter; transcription from RNA polymerase III promoter; positive regulation of innate immune response; positive regulation of interferon-beta production; gene expression; transcription elongation from RNA polymerase III promoter; response to virus; termination of RNA polymerase III transcription | 5q14.3 |
| POLR3GL | termination of RNA polymerase III transcription; transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase III promoter; gene expression | 1q21.1 |
| POLR3H | transcription from RNA polymerase III promoter; nucleobase-containing compound metabolic process; gene expression; response to virus; termination of RNA polymerase III transcription; transcription elongation from RNA polymerase III promoter; innate immune response | 22q13.2 |
| POLR3K | innate immune response; gene expression; transcription from RNA polymerase III promoter; response to virus; transcription elongation from RNA polymerase III promoter; termination of RNA polymerase III transcription | 16p13.3 |
| POLR3KP1 | - | 13q21.2 |
| POLR3KP2 | - | 17q25.1 |
| POLRMT | transcription from mitochondrial promoter; transcription initiation from mitochondrial promoter; gene expression | 19p13.3 |
| POLRMTP1 | - | 17q23.2 |
| POM121 | protein transport; glucose transport; hexose transport; regulation of glucose transport; viral reproduction; mRNA transport; cytokine-mediated signaling pathway; transmembrane transport; carbohydrate metabolic process; small molecule metabolic process | 7q11.23 |
| POM121B | protein transport; mRNA transport | 7q11.23 |
| POM121C | mRNA transport; protein 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 O-linked glycosylation; protein N-linked glycosylation | 1p34.1 |
| POMGNT2 | - | 3p22.1 |
| POMK | - | 8p11.21 |
| POMP | proteasome assembly | 13q12.3 |
| POMT1 | extracellular matrix organization; multicellular organismal development; protein O-linked glycosylation; carbohydrate metabolic process | 9q34.1 |
| POMT2 | protein O-linked glycosylation | 14q24 |
| POMZP3 | - | 7q11.23 |
| PON1 | response to toxin; lipid metabolic process; cholesterol metabolic process; response to external stimulus; positive regulation of cholesterol efflux; aromatic compound catabolic process; positive regulation of transporter activity; negative regulation of plasma lipoprotein particle oxidation; carboxylic acid catabolic process; organophosphate catabolic process; phosphatidylcholine metabolic process; positive regulation of binding | 7q21.3 |
| PON2 | response to oxidative stress; aromatic compound catabolic process | 7q21.3 |
| PON3 | response to external stimulus; carboxylic acid catabolic process; aromatic compound catabolic process | 7q21.3 |
| POP1 | RNA processing; tRNA catabolic process; tRNA 5'-leader removal | 8q22.1 |
| POP4 | rRNA processing; tRNA processing; mRNA cleavage | 19q12 |
| POP5 | RNA metabolic process; tRNA processing | 12q24.31 |
| POP7 | tRNA processing | 7q22 |
| POPDC2 | - | 3q13.33 |
| POPDC3 | - | 6q21 |
| POR | internal peptidyl-lysine acetylation; cellular organofluorine metabolic process; regulation of cholesterol metabolic process; positive regulation of steroid hormone biosynthetic process; cellular response to peptide hormone stimulus; cellular response to follicle-stimulating hormone stimulus; demethylation; negative regulation of lipase activity; oxidation-reduction process; nitric oxide catabolic process; positive regulation of smoothened signaling pathway; positive regulation of cholesterol biosynthetic process; nitrate catabolic 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; positive regulation of chondrocyte differentiation; fatty acid oxidation; flavonoid metabolic process; carnitine metabolic process; response to nutrient; regulation of growth plate cartilage chondrocyte proliferation | 7q11.2 |
| PORCN | Wnt receptor signaling pathway | Xp11.23 |
| POSTN | regulation of Notch signaling pathway; extracellular matrix organization; tissue development; cell adhesion; skeletal system development | 13q13.3 |
| POT1 | positive regulation of DNA strand elongation; negative regulation of telomerase activity; positive regulation of telomerase activity; positive regulation of helicase activity; DNA duplex unwinding; positive regulation of telomere maintenance via telomerase; negative regulation of telomere maintenance via telomerase; telomere formation via telomerase; telomere capping; telomere maintenance via telomerase; telomere maintenance | 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 | positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of cell proliferation; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 3p11 |
| POU2AF1 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; humoral immune response | 11q23.1 |
| POU2F1 | olfactory placode formation; lens induction in camera-type eye; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; gene expression; transcription from RNA polymerase III promoter; regulation of transcription, DNA-dependent | 1q24.2 |
| POU2F2 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; humoral immune response | 19q13.2 |
| POU2F3 | epidermis development; keratinocyte differentiation; regulation of transcription from RNA polymerase II promoter; wound healing; negative regulation by host of viral transcription; positive regulation of transcription from RNA polymerase II promoter | 11q23.3 |
| POU3F1 | positive regulation of transcription, DNA-dependent; forebrain development; keratinocyte differentiation; myelination in peripheral nervous system; epidermis development; axon ensheathment; regulation of transcription, DNA-dependent; positive regulation of gene expression | 1p34.1 |
| POU3F2 | myelination in peripheral nervous system; regulation of axonogenesis; regulation of cell differentiation; positive regulation of multicellular organism growth; neuron differentiation; neurohypophysis development; hypothalamus cell differentiation; 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 | 6q16 |
| POU3F3 | positive regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; kidney development; regulation of transcription, DNA-dependent; multicellular organismal development; central nervous system development; positive regulation of cell proliferation; positive regulation of gene expression; cerebral cortex radially oriented cell migration; forebrain ventricular zone progenitor cell division; metanephric ascending thin limb development; metanephric macula densa development; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; metanephric thick ascending limb development; metanephric loop of Henle development; negative regulation of apoptotic process; metanephric DCT cell differentiation | 2q12.1 |
| POU3F4 | transcription from RNA polymerase II promoter; negative regulation of mesenchymal cell apoptosis; cochlea morphogenesis; inner ear development; forebrain neuron differentiation; sensory perception of sound; regulation of transcription, DNA-dependent | Xq21.1 |
| POU4F1 | synapse assembly; negative regulation of transcription from RNA polymerase II promoter; suckling behavior; ventricular compact myocardium morphogenesis; multicellular organismal development; axonogenesis; mesoderm development; cell migration in hindbrain; trigeminal nerve development; central nervous system neuron differentiation; habenula development; positive regulation of apoptotic process; negative regulation of neuron apoptosis; positive regulation of transcription from RNA polymerase II promoter; neuron fate specification; sensory system development; peripheral nervous system neuron development; regulation of neurogenesis; proprioception involved in equilibrioception; innervation | 13q31.1 |
| POU4F2 | axon guidance; positive regulation of cell differentiation; retinal ganglion cell axon guidance; positive regulation of transcription from RNA polymerase II promoter; axon extension involved in development; neuromuscular process controlling balance; retina development in camera-type eye; neuron differentiation; sensory perception of sound; negative regulation of transcription from RNA polymerase II promoter; MAPK cascade; nervous system development; intracellular estrogen receptor signaling pathway | 4q31.2 |
| POU5F1 | regulation of transcription from RNA polymerase II promoter; 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; regulation of methylation-dependent chromatin silencing; 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; regulation of asymmetric cell division; endodermal cell fate specification; blastocyst development; BMP signaling pathway involved in heart induction; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; multicellular organismal development; response to wounding; anatomical structure morphogenesis; regulation of gene expression | 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 | central nervous system development; ganglion mother cell fate determination; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; 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 | tRNA aminoacylation for protein translation; phosphate-containing compound metabolic process; metabolic process; gene expression; diphosphate metabolic process | 10q11.1-q24 |
| PPA2 | diphosphate metabolic process; gene expression; tRNA aminoacylation for protein translation | 4q25 |
| PPAN-P2RY11 | - | 19p13 |
| PPARA | negative regulation of appetite; intracellular receptor mediated signaling pathway; response to insulin stimulus; wound healing; lipoprotein metabolic process; steroid hormone mediated signaling pathway; cellular lipid metabolic process; small molecule metabolic process; negative regulation of blood pressure; negative regulation of glycolysis; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of fatty acid oxidation; regulation of glycolysis 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 lipid transport by positive regulation of transcription from RNA polymerase II promoter; positive regulation of fatty acid beta-oxidation; regulation of fatty acid metabolic process; fatty acid transport; negative regulation of sequestering of triglyceride; negative regulation | 22q13.31 |
| PPARD | negative regulation of transcription from RNA polymerase II promoter; glucose transport; placenta development; 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; cell differentiation; negative regulation of epithelial cell proliferation; keratinocyte migration; adipose tissue development; fatty acid transport; cholesterol metabolic process; 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; cell proliferation; positive regulation of cell proliferation; axon ensheathment; fatty acid catabolic process; gene | 6p21.2 |
| PPARG | negative regulation of acute inflammatory response; regulation of lipid metabolic process; long-chain fatty acid transport; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cytokine production; placenta development; lipid homeostasis; 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; positive regulation of fatty acid oxidation; 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; positive regulation of fat cell differentiation; response to low-density lipoprotein particle stimulus; negative regulation of interferon-gamma-mediated signaling pathway; regulation of cholester | 3p25 |
| PPARGC1A | positive regulation of fatty acid oxidation; temperature homeostasis; cellular glucose homeostasis; gluconeogenesis; transcription initiation from RNA polymerase II promoter; mRNA processing; protein complex assembly; mitochondrion organization; digestion; RNA splicing; regulation of cell death; response to muscle activity; fatty acid oxidation; respiratory electron transport chain; protein stabilization; androgen receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; brown fat cell differentiation; positive regulation of sequence-specific DNA binding transcription factor activity; neuron death; positive regulation of transcription, DNA-dependent; positive regulation of gluconeogenesis; cellular respiration; negative regulation of neuron apoptosis; response to starvation; positive regulation of histone acetylation; cellular response to oxidative stress | 4p15.1 |
| PPARGC1B | positive regulation of receptor activity; response to cAMP; response to glucocorticoid stimulus; positive regulation of transcription from RNA polymerase II promoter; intracellular estrogen receptor signaling pathway; regulation of transcription, DNA-dependent | 5q32 |
| PPAT | glutamine metabolic process; purine base metabolic process; purine nucleotide biosynthetic 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; purine ribonucleoside monophosphate biosynthetic process; nucleoside metabolic process; purine base biosynthetic process; lactation | 4q12 |
| PPATP1 | - | 3p12.1 |
| PPBP | positive regulation of cell division; defense response to bacterium; platelet degranulation; chemotaxis; immune response; blood coagulation; glucose transport; platelet activation | 4q12-q13 |
| PPCDC | coenzyme biosynthetic process; vitamin metabolic process; water-soluble vitamin metabolic process; small molecule metabolic process; pantothenate metabolic process; coenzyme A biosynthetic process | 15q24.2 |
| PPCS | vitamin metabolic process; small molecule metabolic process; water-soluble vitamin metabolic process; coenzyme biosynthetic process; pantothenate metabolic process | 1p34.2 |
| PPDPF | cell differentiation; multicellular organismal development | 20q13.33 |
| PPEF1 | detection of stimulus involved in sensory perception; protein dephosphorylation | Xp22 |
| PPEF2 | protein dephosphorylation; visual perception; negative regulation of peptidyl-threonine phosphorylation; regulation of MAP kinase activity; negative regulation of MAPK cascade; detection of stimulus involved in sensory perception; response to stimulus; regulation of JUN kinase activity | 4q21.1 |
| PPFIA1 | signal transduction; cell-matrix adhesion | 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 | interspecies interaction between organisms; leukocyte migration; protein peptidyl-prolyl isomerization; platelet degranulation; RNA-dependent DNA replication; protein folding; blood coagulation; viral reproduction; provirus integration; initiation of viral infection; uncoating of virus; platelet activation; entry into host cell; regulation of viral genome replication | 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 | protein folding; signal transduction | 5q23.2 |
| PPID | protein folding | 4q31.3 |
| PPIE | regulation of transcription, DNA-dependent; nuclear mRNA splicing, via spliceosome; protein peptidyl-prolyl isomerization; protein folding; RNA splicing | 1p32 |
| PPIEL | - | 1p34.3 |
| PPIF | protein folding; apoptotic mitochondrial changes; regulation of apoptotic process; regulation of mitochondrial membrane permeability | 10q22-q23 |
| PPIG | RNA splicing; protein folding | 2q31.1 |
| PPIH | RNA splicing; protein complex assembly; protein folding; protein peptidyl-prolyl isomerization; nuclear mRNA splicing, via spliceosome | 1p34.1 |
| PPIHP2 | - | Xq23 |
| PPIL1 | RNA splicing; protein folding; nuclear mRNA splicing, via spliceosome | 6p21.1 |
| PPIL2 | protein folding; protein polyubiquitination; leukocyte migration; blood coagulation | 22q11.21 |
| PPIL3 | RNA splicing; protein folding; nuclear mRNA splicing, via spliceosome | 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 | Wnt receptor signaling pathway; negative regulation of SMAD protein complex assembly; dephosphorylation; cell cycle arrest; signal transduction; insulin receptor signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of I-kappaB kinase/NF-kappaB cascade; peptidyl-threonine dephosphorylation; negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of Wnt receptor signaling pathway | 14q23.1 |
| PPM1AP1 | - | 8p22 |
| PPM1B | peptidyl-threonine dephosphorylation; cytokine-mediated signaling pathway; protein dephosphorylation | 2p21 |
| PPM1D | protein dephosphorylation; negative regulation of cell proliferation; peptidyl-threonine dephosphorylation; response to bacterium; response to radiation; G2/M transition of mitotic cell cycle; cell cycle | 17q23.2 |
| PPM1E | negative regulation of protein kinase activity; cellular response to drug; peptidyl-threonine dephosphorylation; positive regulation of stress fiber assembly | 17q22 |
| PPM1F | positive regulation of growth; intrinsic apoptotic signaling pathway; positive regulation of stress fiber assembly; negative regulation of protein kinase activity; positive regulation of gene expression; positive regulation of epithelial cell migration; positive regulation of cell-substrate adhesion; negative regulation of peptidyl-serine phosphorylation; cellular response to drug; peptidyl-threonine dephosphorylation; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of protein kinase activity by regulation of protein phosphorylation; negative regulation of transcription, DNA-dependent; positive regulation of chemotaxis; positive regulation of focal adhesion assembly | 22q11.22 |
| PPM1G | protein dephosphorylation; cell cycle arrest; peptidyl-threonine dephosphorylation | 2p23.3 |
| PPM1H | - | 12q14.1 |
| PPM1J | protein dephosphorylation | 1p13.2 |
| PPM1K | protein dephosphorylation | 4q22.1 |
| PPM1L | small molecule metabolic process; sphingolipid biosynthetic process; transmembrane receptor protein serine/threonine kinase signaling pathway; sphingolipid metabolic process; protein dephosphorylation; MAPK cascade | 3q26.1 |
| PPM1M | protein dephosphorylation | 3p21.2 |
| PPM1N | - | 19q13.32 |
| PPME1 | protein demethylation | 11q13.4 |
| PPOX | heme biosynthetic process; response to drug; small molecule metabolic process; protoporphyrinogen IX metabolic process; oxidation-reduction process; porphyrin-containing compound metabolic process; porphyrin-containing compound biosynthetic process | 1q22 |
| PPP1CA | branching morphogenesis of a tube; cell division; small molecule metabolic process; lung development; triglyceride catabolic process; cell cycle; lipid metabolic process; protein dephosphorylation; regulation of glycogen catabolic process; regulation of glycogen biosynthetic process; glycogen metabolic process; carbohydrate metabolic process | 11q13 |
| PPP1CB | carbohydrate metabolic process; cell division; small molecule metabolic process; regulation of cell adhesion; triglyceride catabolic process; cell cycle; lipid metabolic process; protein dephosphorylation; regulation of glycogen catabolic process; regulation of glycogen biosynthetic process; glycogen metabolic process | 2p23 |
| PPP1CC | regulation of nucleocytoplasmic transport; cell division; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; carbohydrate metabolic process; glycogen metabolic process; protein dephosphorylation; lipid metabolic process; triglyceride catabolic process; small molecule 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; centrosome organization; regulation of nucleocytoplasmic transport; regulation of myosin-light-chain-phosphatase activity; regulation of cell adhesion; signal transduction; protein dephosphorylation | 12q15-q21 |
| PPP1R12B | positive regulation of catalytic activity; regulation of muscle contraction; signal transduction | 1q32.1 |
| PPP1R12C | - | 19q13.42 |
| PPP1R13B | apoptotic process; induction of apoptosis; negative regulation of cell cycle | 14q32.33 |
| PPP1R13L | negative regulation of transcription from RNA polymerase II promoter; cardiac muscle contraction; multicellular organismal homeostasis; hair cycle; multicellular organism growth; embryonic camera-type eye development; post-embryonic development; apoptotic process; regulation of transcription, DNA-dependent; ventricular cardiac muscle tissue development; cardiac right ventricle morphogenesis | 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; apoptotic process; regulation of translation; response to DNA damage stimulus; cell cycle arrest; endoplasmic reticulum unfolded protein response | 19q13.2 |
| PPP1R15B | regulation of translation; response to oxidative stress; ER overload response; dephosphorylation; response to hydrogen peroxide | 1q32.1 |
| PPP1R16A | - | 8q24.3 |
| PPP1R16B | regulation of filopodium assembly; signal transduction | 20q11.23 |
| PPP1R17 | protein phosphorylation; signal transduction; intracellular protein kinase cascade; central nervous system development; behavior; regulation of phosphatase activity; negative regulation of catalytic activity | 7p15 |
| PPP1R18 | - | 6p21.3 |
| PPP1R1A | carbohydrate metabolic process; glycogen metabolic process; signal transduction | 12q13.2 |
| PPP1R1B | intracellular signal transduction; signal transduction; transcription, DNA-dependent; response to amphetamine; negative regulation of female receptivity; visual learning | 17q12 |
| PPP1R1C | signal transduction | 2q31.3 |
| PPP1R2 | carbohydrate metabolic process; glycogen metabolic process; generation of precursor metabolites and energy; regulation of signal transduction; regulation of phosphoprotein phosphatase activity | 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 | regulation of phosphoprotein phosphatase activity; regulation of signal transduction; glycogen metabolic process; carbohydrate metabolic process | - |
| PPP1R2P3 | regulation of phosphoprotein phosphatase activity; carbohydrate metabolic process; glycogen metabolic process; regulation of signal transduction | 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 | carbohydrate metabolic process; glycogen metabolic process | 8p23.1 |
| PPP1R3C | carbohydrate metabolic process; regulation of glycogen biosynthetic process; regulation of glycogen catabolic process | 10q23-q24 |
| PPP1R3D | carbohydrate metabolic process; glycogen metabolic process; regulation of glycogen biosynthetic process; regulation of glycogen catabolic process | 20q13.3 |
| PPP1R3E | glycogen metabolic process; carbohydrate metabolic process; regulation of glycogen biosynthetic process; regulation of glycogen catabolic process | 14q11.2 |
| PPP1R3F | - | Xp11.23 |
| PPP1R3G | - | 6p25.1 |
| PPP1R42 | - | 8q13.1 |
| PPP1R7 | regulation of catalytic activity | 2q37.3 |
| PPP1R8 | RNA splicing; regulation of transcription, DNA-dependent; mRNA processing; RNA catabolic process; cell proliferation; regulation of catalytic activity | 1p35.3 |
| PPP1R8P1 | - | 1p33 |
| PPP1R9A | multicellular organismal development; nervous system development; cell differentiation | 7q21.3 |
| PPP1R9B | regulation of cell proliferation; multicellular organismal development; regulation of exit from mitosis; cell cycle arrest; regulation of cell growth by extracellular stimulus; nervous system development; RNA splicing; cell migration; cell differentiation; negative regulation of cell growth; filopodium assembly; cellular response to morphine; regulation of opioid receptor signaling pathway | 17q21.33 |
| PPP2CA | RNA metabolic process; regulation of DNA replication; negative regulation of epithelial to mesenchymal transition; regulation of receptor activity; gene expression; response to organic substance; fibroblast growth factor receptor signaling pathway; RNA splicing; mesoderm development; meiosis; induction of apoptosis; ceramide metabolic process; protein dephosphorylation; regulation of transcription, DNA-dependent; 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 protein catabolic process; negative regulation of tyrosine phosphorylation of Stat3 protein; regulation of cell differentiation; protein heterotrimerization; positive regulation of protein serine/threonine kinase activity; inactivation of MAPK activity; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 5q31.1 |
| PPP2CB | negative regulation of Ras protein signal transduction; protein dephosphorylation; fibroblast growth factor receptor signaling pathway; regulation of gene expression; response to hydrogen peroxide; negative regulation of apoptotic process; proteasomal ubiquitin-dependent protein catabolic process; response to antibiotic | 8p12 |
| PPP2R1A | gene expression; inactivation of MAPK activity; peptidyl-serine dephosphorylation; regulation of cell differentiation; regulation of apoptotic process; negative regulation of tyrosine phosphorylation of Stat3 protein; regulation of growth; negative regulation of cell growth; regulation of cell adhesion; regulation of Wnt receptor signaling pathway; second-messenger-mediated signaling; mRNA metabolic process; RNA metabolic process; response to organic substance; fibroblast growth factor receptor signaling pathway; RNA splicing; chromosome segregation; induction of apoptosis; ceramide metabolic process; protein dephosphorylation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; G2/M transition of mitotic cell cycle; protein complex assembly; regulation of transcription, DNA-dependent; regulation of DNA replication; mitotic cell cycle | 19q13.41 |
| PPP2R1B | positive regulation of extrinsic apoptotic signaling pathway in absence of ligand | 11q23.2 |
| PPP2R2A | protein dephosphorylation; signal transduction; gene expression; RNA metabolic process; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 8p21.2 |
| PPP2R2B | apoptotic process; signal transduction; cell death | 5q32 |
| PPP2R2B-IT1 | - | - |
| PPP2R2C | signal transduction | 4p16.1 |
| PPP2R2D | cell cycle; cell division; exit from mitosis; signal transduction; mitosis | 10q26.3 |
| PPP2R3A | protein dephosphorylation | 3q22.1 |
| PPP2R3B | cell cycle arrest; protein dephosphorylation; mitotic cell cycle; G1/S transition of mitotic cell cycle | Xp22.33; Yp11.3 |
| PPP2R3C | - | 14q13.2 |
| PPP2R4 | protein folding; positive regulation of apoptotic process; regulation of phosphoprotein phosphatase activity; negative regulation of protein dephosphorylation; positive regulation of protein dephosphorylation; positive regulation of phosphoprotein phosphatase activity; negative regulation of phosphoprotein phosphatase activity; ATP catabolic process | 9q34 |
| PPP2R5A | negative regulation of lipid kinase activity; negative regulation of establishment of protein localization in plasma membrane; positive regulation of protein dephosphorylation; signal transduction | 1q32.2-q32.3 |
| PPP2R5B | activation of signaling protein activity involved in unfolded protein response; cellular response to growth factor stimulus; positive regulation of cell cycle arrest; negative regulation of G0 to G1 transition; positive regulation of nerve growth factor receptor signaling pathway; positive regulation of sequence-specific DNA binding transcription factor activity; regulation of peptidyl-tyrosine phosphorylation; regulation of protein autophosphorylation; positive regulation of protein complex assembly; endoplasmic reticulum unfolded protein response; positive regulation of neuron projection development; regulation of receptor activity; signal transduction | 11q12 |
| PPP2R5C | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; proteasomal ubiquitin-dependent protein catabolic process; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; negative regulation of cell proliferation; signal transduction; protein processing | 14q32.31 |
| PPP2R5D | signal transduction; nervous system development | 6p21.1 |
| PPP2R5E | signal transduction | 14q23.1 |
| PPP3CA | cellular response to drug; cellular response to glucose stimulus; regulation of excitatory postsynaptic membrane potential; regulation of synaptic transmission; skeletal muscle fiber development; negative regulation of insulin secretion; positive regulation of transcription from RNA polymerase II promoter; T cell activation; dephosphorylation; response to stress; calcium ion transport; protein import into nucleus; protein dephosphorylation; response to amphetamine; G1/S transition of mitotic cell cycle | 4q24 |
| PPP3CB | negative regulation of T cell mediated cytotoxicity; response to amphetamine; protein phosphorylation; protein dephosphorylation; signal transduction; T cell differentiation; learning; heart development; regulation of insulin secretion; axon extension; regulation of synaptic plasticity; muscle cell homeostasis; positive regulation of transcription, DNA-dependent; T cell homeostasis; T cell activation; T cell proliferation; positive regulation of insulin secretion involved in cellular response to glucose stimulus; cellular response to drug; social behavior; response to cytokine stimulus; calcium ion-dependent exocytosis; dephosphorylation; regulation of gene expression; memory | 10q22.2 |
| PPP3CB-AS1 | - | 10q22.2 |
| PPP3CC | apoptotic process; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products | 8p21.3 |
| PPP3R1 | heart development; patterning of blood vessels; epithelial to mesenchymal transition; apoptotic process; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; protein localization to nucleus; NFAT protein import into nucleus; lung epithelial cell differentiation; protein dephosphorylation | 2p15 |
| PPP4C | NIK/NF-kappaB cascade; regulation of double-strand break repair via homologous recombination; microtubule cytoskeleton organization | 16p11.2 |
| PPP4R1 | signal transduction; protein phosphorylation | 18p11.22 |
| PPP4R1L | - | 20q13.32 |
| PPP4R2 | regulation of double-strand break repair via homologous recombination; RNA splicing; protein modification process; mRNA processing | 3p13 |
| PPP4R3A | - | 14q32.12 |
| PPP4R3B | - | 2p16.1 |
| PPP4R3CP | - | Xp21.3 |
| PPP4R4 | - | 14q32.2 |
| PPP5C | mitosis; positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction; protein dephosphorylation; transcription, DNA-dependent | 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 | lysosome organization; protein transport; negative regulation of neuron apoptosis; negative regulation of apoptotic process; regulation of phospholipase A2 activity; membrane raft organization; negative regulation of cell growth; protein catabolic process; sphingolipid catabolic process; lipid catabolic process; cellular protein catabolic process; adult locomotory behavior; associative learning; cell death; metabolic process; grooming behavior; visual perception; brain development; nervous system development; positive regulation of receptor-mediated endocytosis; positive regulation of pinocytosis; neuron development; regulation of synapse structure and activity; response to stimulus; cofactor transport; cofactor metabolic process; protein depalmitoylation; DNA fragmentation involved in apoptotic nuclear change; neurotransmitter secretion; lysosomal lumen acidification; pinocytosis; receptor-mediated endocytosis; protein modification process | 1p32 |
| PPT2 | protein modification process | 6p21.3 |
| PPTC7 | - | 12q24.11 |
| PPWD1 | RNA splicing; protein folding; nuclear mRNA splicing, via spliceosome | 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 | L-glutamate transport; protein transport | Xp11.23 |
| PRAM1 | regulation of neutrophil degranulation; integrin-mediated signaling pathway | 19p13.2 |
| PRAME | negative regulation of cell differentiation; positive regulation of cell proliferation; regulation of growth; negative regulation of apoptotic process; negative regulation of retinoic acid receptor signaling pathway; negative regulation of transcription, DNA-dependent | 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 | cytokinesis; cell cycle; mitotic spindle elongation | 15q26.1 |
| PRCC | cell cycle; mitotic cell cycle checkpoint | 1q21.1 |
| PRCD | response to stimulus; visual perception | 17q25.1 |
| PRCP | proteolysis; blood coagulation; blood coagulation, intrinsic pathway | 11q14 |
| PRDM1 | embryonic placenta development; positive regulation of B cell differentiation; negative regulation of transcription from RNA polymerase II promoter; cell fate commitment; negative regulation of lipopolysaccharide-mediated signaling pathway; maternal placenta development; germ cell development; positive regulation of gene expression; negative regulation of B cell proliferation | 6q21 |
| PRDM10 | regulation of transcription, DNA-dependent | 11q25 |
| PRDM11 | - | 11p11 |
| PRDM12 | neurogenesis; regulation of transcription, DNA-dependent | 9q33-q34 |
| PRDM13 | regulation of transcription, DNA-dependent | 6q16.2 |
| PRDM14 | cell morphogenesis; cell fate specification; regulation of transcription, DNA-dependent; fertilization; homeostasis of number of cells within a tissue; germ cell development | 8q13.3 |
| PRDM15 | regulation of transcription, DNA-dependent | 21q22.3 |
| PRDM16 | positive regulation of transcription, DNA-dependent; negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of granulocyte differentiation; neurogenesis; negative regulation of transcription from RNA polymerase II promoter; palate development; regulation of cellular respiration; brown fat cell differentiation; somatic stem cell maintenance; negative regulation of transcription, DNA-dependent; tongue development; white fat cell differentiation | 1p36.23-p33 |
| PRDM2 | response to estradiol stimulus; regulation of transcription, DNA-dependent | 1p36.21 |
| PRDM4 | regulation of transcription, DNA-dependent; cellular response to growth factor stimulus; nerve growth factor receptor signaling pathway; negative regulation of cell cycle; cellular response to nutrient; negative regulation of cell growth; cell proliferation; transcription from RNA polymerase II promoter; signal transduction | 12q23-q24.1 |
| PRDM5 | negative regulation of transcription, DNA-dependent; histone H3-K9 methylation; histone deacetylation; chromatin modification; mitotic cell cycle | 4q25-q26 |
| PRDM6 | neurogenesis; chromatin modification; negative regulation of transcription, DNA-dependent; negative regulation of smooth muscle cell differentiation | 5q23.2 |
| PRDM7 | chromatin modification; regulation of transcription, DNA-dependent | 16q24.3 |
| PRDM8 | regulation of transcription, DNA-dependent | 4q21 |
| PRDM9 | meiosis; regulation of transcription, DNA-dependent; chromatin modification | 5p14 |
| PRDX1 | skeletal system development; cell proliferation; hydrogen peroxide catabolic process | 1p34.1 |
| PRDX2 | response to lipopolysaccharide; removal of superoxide radicals; regulation of hydrogen peroxide metabolic process; positive regulation of blood coagulation; negative regulation of lipopolysaccharide-mediated signaling pathway; negative regulation of NF-kappaB transcription factor activity; response to oxidative stress; anti-apoptosis; respiratory burst involved in inflammatory response; activation of MAPK activity; cellular response to oxidative stress; T cell proliferation; 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 | 19p13.2 |
| PRDX2P1 | - | 13p12 |
| PRDX2P2 | - | 10p11.21 |
| PRDX2P3 | - | - |
| PRDX2P4 | - | 6q16.2 |
| PRDX3 | maternal placenta development; response to oxidative stress; mitochondrion organization; positive regulation of cell proliferation; negative regulation of kinase activity; cellular response to reactive oxygen species; response to hydrogen peroxide; hydrogen peroxide catabolic process; negative regulation of apoptotic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of neuron apoptosis; positive regulation of NF-kappaB transcription factor activity; regulation of mitochondrial membrane potential; myeloid cell differentiation; response to lipopolysaccharide | 10q25-q26 |
| PRDX3P1 | - | - |
| PRDX3P2 | - | 1p35.3 |
| PRDX3P3 | - | 13q13.3 |
| PRDX4 | I-kappaB phosphorylation | Xp22.11 |
| PRDX5 | negative regulation of apoptotic process; cellular response to reactive oxygen species; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; response to oxidative stress; inflammatory response | 11q13 |
| PRDX6 | lipid catabolic process; phospholipid catabolic process; hydrogen peroxide catabolic process; response to oxidative stress | 1q25.1 |
| PREB | activation of signaling protein activity involved in unfolded protein response; protein N-linked glycosylation via asparagine; endoplasmic reticulum unfolded protein response; vesicle-mediated transport; post-translational protein modification; cellular protein metabolic process; COPII vesicle coating; cellular membrane organization; protein transport; ER to Golgi vesicle-mediated transport; regulation of transcription, DNA-dependent | 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 small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; neutrophil activation; regulation of Rho protein signal transduction; positive regulation of Rho GTPase activity; actin filament polymerization; induction of apoptosis by extracellular signals; superoxide metabolic process; small GTPase mediated signal transduction; apoptotic process | 20q13.13 |
| PREX2 | positive regulation of Rac GTPase activity; intracellular signal transduction; regulation of Rho protein signal transduction; G-protein coupled receptor signaling pathway | 8q13.2 |
| PRF1 | cytolysis; circadian rhythm; cellular defense response; apoptotic process; immune response to tumor cell; defense response to tumor cell; response to ethanol; protein homooligomerization; defense response to virus | 10q22 |
| PRG2 | defense response to bacterium; immune response | 11q12 |
| PRG4 | immune response; cell proliferation | 1q25-q31 |
| PRH1 | - | 12p13.2 |
| PRH2 | - | 12p13.2 |
| PRICKLE1 | negative regulation of cardiac muscle cell myoblast differentiation; neural tube closure; protein import into nucleus; positive regulation of protein ubiquitination; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of transcription, DNA-dependent; negative regulation of canonical Wnt receptor signaling pathway | 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 | DNA replication; M/G1 transition of mitotic cell cycle; DNA replication, synthesis of RNA primer; DNA-dependent DNA replication initiation; DNA strand elongation involved in DNA replication; telomere maintenance via semi-conservative replication; telomere maintenance; telomere maintenance via recombination; G1/S transition of mitotic cell cycle; mitotic cell cycle; S phase of mitotic cell cycle | 12q13 |
| PRIM2 | DNA-dependent DNA replication initiation; 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 strand elongation involved in DNA replication; telomere maintenance via semi-conservative replication | 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 | signal transduction; cellular response to glucose starvation; histone-serine phosphorylation; negative regulation of TOR signaling cascade; cellular response to nutrient levels; chromatin modification; Wnt receptor signaling pathway; positive regulation of autophagy; lipid biosynthetic process; insulin receptor signaling pathway; positive regulation of anti-apoptosis; cell cycle arrest; response to stress; fatty acid biosynthetic process; positive regulation of cholesterol biosynthetic process; activation of MAPK activity; response to hypoxia; regulation of transcription, DNA-dependent; protein phosphorylation; regulation of circadian rhythm; glucose homeostasis; rhythmic process; negative regulation of lipid catabolic process; fatty acid homeostasis; regulation of energy homeostasis; regulation of fatty acid oxidation; negative regulation of glucosylceramide biosynthetic process; positive regulation of glycolysis; negative regulation of apoptotic process | 5p12 |
| PRKAA2 | regulation of fatty acid oxidation; cellular response to glucose starvation; regulation of fatty acid biosynthetic process; glucose homeostasis; regulation of circadian rhythm; negative regulation of apoptotic process; cellular lipid metabolic process; small molecule metabolic process; positive regulation of glycolysis; regulation of energy homeostasis; rhythmic process; protein heterooligomerization; fatty acid homeostasis; cellular response to organic nitrogen; negative regulation of TOR signaling cascade; carnitine shuttle; response to stress; cell cycle arrest; histone-serine phosphorylation; cholesterol biosynthetic process; protein phosphorylation; regulation of transcription, DNA-dependent; energy reserve metabolic process; signal transduction; insulin receptor signaling pathway; lipid biosynthetic process; positive regulation of autophagy; response to activity; Wnt receptor signaling pathway; chromatin modification; regulation of lipid metabolic process; response to caffeine; cellular response to nutr | 1p31 |
| PRKAB1 | fatty acid biosynthetic process; protein heterooligomerization; regulation of catalytic activity; regulation of fatty acid oxidation; insulin receptor signaling pathway; signal transduction; cell cycle arrest | 12q24.1-q24.3 |
| PRKAB2 | energy reserve metabolic process; carnitine shuttle; cell cycle arrest; signal transduction; insulin receptor signaling pathway; cellular lipid metabolic process; regulation of fatty acid biosynthetic process; small molecule metabolic process; regulation of fatty acid oxidation | 1q21.1 |
| PRKACA | activation of protein kinase A activity; triglyceride catabolic process; regulation of cellular respiration; small molecule metabolic process; regulation of osteoblast differentiation; protein autophosphorylation; positive regulation of protein export from nucleus; nerve growth factor receptor signaling pathway; sperm capacitation; 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; peptidyl-serine phosphorylation; G2/M transition of mitotic cell cycle; mitotic cell cycle; mesoderm formation; carbohydrate metabolic process; glucose metabolic process; gluconeogenesis; energy reserve metabolic process; protein phosphorylation; lipid metabolic process; w | 19p13.1 |
| PRKACB | transmembrane transport; carbohydrate metabolic process; glucose metabolic process; energy reserve metabolic process; regulation of insulin secretion; cellular response to glucagon stimulus; 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; gluconeogenesis; lipid metabolic process; protein phosphorylation | 1p31.1 |
| PRKACG | nerve growth factor receptor signaling pathway; intracellular protein kinase cascade; activation of phospholipase C activity; spermatogenesis; blood coagulation; carbohydrate metabolic process; fibroblast growth factor receptor signaling pathway; male gonad development; triglyceride catabolic process; activation of protein kinase A activity; small molecule metabolic process; regulation of insulin secretion; transmembrane transport; cellular response to glucagon stimulus; epidermal growth factor receptor signaling pathway; signal transduction; water transport; lipid metabolic process; energy reserve metabolic process; gluconeogenesis; glucose metabolic process | 9q13 |
| PRKAG1 | regulation of fatty acid oxidation; protein heterooligomerization; regulation of catalytic activity; positive regulation of protein kinase activity; regulation of glycolysis; insulin receptor signaling pathway; spermatogenesis; signal transduction; cell cycle arrest; fatty acid biosynthetic process; protein phosphorylation | 12q12-q14 |
| PRKAG2 | sterol biosynthetic process; regulation of fatty acid oxidation; positive regulation of peptidyl-threonine phosphorylation; insulin receptor signaling pathway; intracellular protein kinase cascade; cell cycle arrest; carnitine shuttle; ATP biosynthetic process; negative regulation of protein kinase activity; energy reserve metabolic process; regulation of glycolysis; glycogen metabolic process; regulation of fatty acid metabolic process; regulation of fatty acid biosynthetic process; cellular lipid metabolic process; small molecule metabolic process; positive regulation of protein kinase activity; regulation of glucose import; regulation of catalytic activity | 7q36.1 |
| PRKAG2-AS1 | - | - |
| PRKAG3 | insulin receptor signaling pathway; fatty acid biosynthetic process; cell cycle arrest; intracellular protein kinase cascade; regulation of fatty acid oxidation | 2q35 |
| PRKAR1A | energy reserve metabolic process; mesoderm formation; regulation of protein phosphorylation; 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; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; signal transduction; water transport; regulation of transcription from RNA polymerase II promoter | 17q23-q24 |
| PRKAR1B | regulation of protein phosphorylation; 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; blood coagulation; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; signal transduction; water transport; protein phosphorylation; energy reserve metabolic process | 7p22 |
| PRKAR2A | water transport; regulation of protein phosphorylation; energy reserve metabolic process; signal transduction; blood coagulation; fibroblast growth factor receptor signaling pathway; activation of protein kinase A activity; intracellular signal transduction; small molecule metabolic process; regulation of protein kinase activity; nerve growth factor receptor signaling pathway; regulation of insulin secretion; protein heterooligomerization; transmembrane transport; cellular response to glucagon stimulus; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway | 3p21.3-p21.2 |
| PRKAR2A-AS1 | - | - |
| PRKAR2B | G2/M transition of mitotic cell cycle; cellular response to glucagon stimulus; transmembrane transport; regulation of insulin secretion; regulation of catalytic activity; nerve growth factor receptor signaling pathway; regulation of protein kinase activity; small molecule metabolic process; intracellular signal transduction; activation of protein kinase A activity; fibroblast growth factor receptor signaling pathway; mitotic cell cycle; energy reserve metabolic process; fatty acid metabolic process; water transport; signal transduction; epidermal growth factor receptor signaling pathway; activation of phospholipase C activity; blood coagulation; learning | 7q22 |
| PRKCA | energy reserve metabolic process; fibroblast growth factor receptor signaling pathway; positive regulation of lipopolysaccharide-mediated signaling pathway; platelet activation; mRNA metabolic process; RNA metabolic process; positive regulation of cardiac muscle hypertrophy; positive regulation of endothelial cell migration; gene expression; induction of apoptosis by extracellular signals; negative regulation of glial cell apoptosis; blood coagulation; synaptic transmission; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; signal transduction; apoptotic process; protein phosphorylation; positive regulation of endothelial cell proliferation; histone H3-T6 phosphorylation; positive regulation of dense core granule biogenesis; regulation of platelet aggregation; response to interleukin-1; positive regulation of ERK1 and ERK2 cascade; regulation of insulin secretion; nerve growth factor receptor signaling pathway; positive regulation of mitotic cell cycle; positive regul | 17q22-q23.2 |
| PRKCB | apoptotic process; signal transduction; protein phosphorylation; regulation of transcription from RNA polymerase II promoter; synaptic transmission; blood coagulation; positive regulation of NF-kappaB transcription factor activity; positive regulation of B cell receptor signaling pathway; B cell receptor signaling pathway; negative regulation of insulin receptor signaling pathway; positive regulation of angiogenesis; positive regulation of I-kappaB kinase/NF-kappaB cascade; 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 | 16p11.2 |
| PRKCD | cell cycle; signal transduction; cellular component disassembly involved in apoptosis; apoptotic process; RNA metabolic process; interleukin-10 production; negative regulation of protein binding; negative regulation of actin filament polymerization; platelet activation; termination of signal transduction; cytokine-mediated signaling pathway; peptidyl-threonine phosphorylation; mRNA metabolic process; interleukin-12 production; positive regulation of superoxide anion generation; immunoglobulin mediated immune response; regulation of receptor activity; gene expression; fibroblast growth factor receptor signaling pathway; blood coagulation; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; positive regulation of response to DNA damage stimulus; 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 reg | 3p21.31 |
| PRKCDBP | - | 11p15.4 |
| PRKCE | nerve growth factor receptor signaling pathway; blood coagulation; lipopolysaccharide-mediated signaling pathway; positive regulation of actin filament polymerization; platelet activation; regulation of lipid metabolic process; positive regulation of cell-substrate adhesion; positive regulation of fibroblast migration; positive regulation of epithelial cell migration; fibroblast growth factor receptor signaling pathway; positive regulation of cell cycle cytokinesis; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; signal transduction; cell adhesion; cell cycle; induction of apoptosis; protein phosphorylation; macrophage activation involved in immune response; positive regulation of synaptic transmission, GABAergic; positive regulation of wound healing; cellular response to hypoxia; cellular response to ethanol; positive regulation of mucus secretion; regulation of insulin secretion involved in cellular response to glucose stimulus; cell division; release of sequester | 2p21 |
| PRKCG | negative regulation of protein catabolic process; protein phosphorylation; innervation; response to pain; nerve growth factor receptor signaling pathway; negative regulation of neuron apoptosis; response to morphine; intracellular signal transduction; positive regulation of mismatch repair; negative regulation of protein ubiquitination; platelet activation; phosphorylation; cell death; chemosensory behavior; learning or memory; blood coagulation; synaptic transmission; activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; signal transduction; fibroblast growth factor receptor signaling pathway | 19q13.4 |
| PRKCH | intracellular signal transduction; positive regulation of keratinocyte differentiation; positive regulation of B cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; positive regulation of glial cell proliferation; regulation of tight junction assembly; negative regulation of glial cell apoptosis; platelet activation; cell differentiation; positive regulation of macrophage derived foam cell differentiation; blood coagulation; signal transduction; protein phosphorylation | 14q23.1 |
| PRKCI | actin filament organization; protein targeting to membrane; cytoskeleton organization; positive regulation of neuron projection development; protein phosphorylation; cellular membrane organization; vesicle-mediated transport; cellular response to insulin stimulus; cell junction assembly; negative regulation of glial cell apoptosis; establishment of apical/basal cell polarity; intracellular signal transduction; eye photoreceptor cell development; response to peptide hormone stimulus; negative regulation of neuron apoptosis; cell-cell junction organization; anti-apoptosis; establishment or maintenance of epithelial cell apical/basal polarity; positive regulation of endothelial cell apoptosis; positive regulation of establishment of protein localization in plasma membrane; tight junction assembly; response to interleukin-1; positive regulation of glial cell proliferation; positive regulation of NF-kappaB transcription factor activity; Golgi vesicle budding; nerve growth factor receptor signaling pathway; secreti | 3q26.3 |
| PRKCQ | positive regulation of T cell proliferation; intracellular signal transduction; response to insulin stimulus; tissue regeneration; positive regulation of interleukin-4 production; response to heat; positive regulation of interleukin-17 production; neuron differentiation; platelet activation; regulation of vasoconstriction; response to organic cyclic compound; regulation of G2/M transition of mitotic cell cycle; response to glucose stimulus; positive regulation of NF-kappaB import into nucleus; positive regulation of interleukin-2 biosynthetic process; respiratory burst; negative regulation of insulin receptor signaling pathway; positive regulation of protein secretion; T cell receptor signaling pathway; positive regulation of T cell activation; positive regulation of NF-kappaB transcription factor activity; positive regulation of filopodium assembly; response to hypoxia; positive regulation of stress fiber assembly; negative regulation of T cell apoptosis; regulation of platelet aggregation; positive regulati | 10p15 |
| PRKCQ-AS1 | - | 10p14 |
| PRKCSH | innate immune response; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; intracellular protein kinase cascade; protein folding | 19p13.2 |
| PRKCZ | peptidyl-serine phosphorylation; inflammatory response; 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; microtubule cytoskeleton organization; protein phosphorylation; anti-apoptosis; signal transduction; blood coagulation; positive regulation of ERK1 and ERK2 cascade; establishment of cell polarity; platelet activation; negative regulation of protein complex assembly; positive regulation of interleukin-4 production; intracellular signal transduction; positive regulation of T-helper 2 cell differentiation; negative regulation of insulin receptor signaling pathway; positive regulation of insulin receptor signaling pathway; negative regulation of peptidyl-tyrosine phosphorylation; positive regulation of NF-kappaB transcription factor activity; long-term synaptic potentiation | 1p36.33-p36.2 |
| PRKD1 | apoptotic process; positive regulation of transcription from RNA polymerase II promoter; protein autophosphorylation; vascular endothelial growth factor receptor signaling pathway; Golgi vesicle transport; positive regulation of NF-kappaB transcription factor activity; negative regulation of cell death; positive regulation of endothelial cell proliferation; sphingolipid metabolic process; cell differentiation; inflammatory response; Golgi organization; signal transduction; integrin-mediated signaling pathway; intracellular protein kinase cascade; regulation of integrin-mediated signaling pathway; nervous system development; cell proliferation; positive regulation of angiogenesis; sphingolipid biosynthetic process; positive regulation of CREB transcription factor activity; cellular response to oxidative stress; endothelial cell chemotaxis; cellular response to vascular endothelial growth factor stimulus; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of endothelial cell migration | 14q11 |
| PRKD2 | positive regulation of T cell receptor signaling pathway; positive regulation of endothelial cell migration; cell death; intracellular protein kinase cascade; positive regulation of DNA biosynthetic process; protein phosphorylation; positive regulation of endothelial cell proliferation; positive regulation of ERK1 and ERK2 cascade; endothelial tube morphogenesis; positive regulation of NF-kappaB transcription factor activity; positive regulation of sequence-specific DNA binding transcription factor activity; peptidyl-serine phosphorylation; T cell receptor signaling pathway; vascular endothelial growth factor receptor signaling pathway; protein autophosphorylation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell adhesion; positive regulation of angiogenesis; endothelial cell chemotaxis; positive regulation of fibroblast growth factor receptor signaling pathway; positive regulation of blood vessel endothelial cell migration; cellular response to vascular endoth | 19q13.3 |
| PRKD3 | protein phosphorylation; intracellular signal transduction; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway | 2p21 |
| PRKDC | response to gamma radiation; 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; protein destabilization; protein phosphorylation; protein modification process; DNA recombination; double-strand break repair via nonhomologous end joining; double-strand break repair; DNA repair; T cell lineage commitment; pro-B cell differentiation; B cell lineage commitment; somitogenesis; telomere maintenance; brain development; heart development; cellular response to insulin stimulus; lymphocyte differentiation; peptidyl-serine phosphorylation | 8q11 |
| PRKG1 | regulation of GTPase activity; actin cytoskeleton organization; blood coagulation; signal transduction; protein phosphorylation; negative regulation of platelet aggregation | 10q11.2 |
| PRKG1-AS1 | - | - |
| PRKG2 | regulation of nitric-oxide synthase activity; nitric oxide metabolic process; small molecule metabolic process; blood coagulation; signal transduction; protein phosphorylation | 4q13.1-q21.1 |
| PRKRA | protein phosphorylation; skeletal system morphogenesis; positive regulation of catalytic activity; middle ear morphogenesis; outer ear morphogenesis; gene silencing by RNA; production of siRNA involved in RNA interference; response to virus; negative regulation of cell proliferation; immune response; response to stress; induction of apoptosis | 2q31.2 |
| PRKRIP1 | negative regulation of phosphorylation; negative regulation of protein kinase activity | 7q22.1 |
| PRKRIR | response to stress; signal transduction; negative regulation of cell proliferation | 11q13.5 |
| PRKRIRP2 | - | - |
| PRKRIRP3 | - | 10q21.1 |
| PRKRIRP4 | - | 11p14.3 |
| PRKRIRP5 | - | 6p24.2 |
| PRKRIRP8 | - | 1q43 |
| PRKX | multicellular organismal development; peptidyl-serine phosphorylation; myeloid cell differentiation; regulation of cell adhesion; regulation of cell migration; cell-substrate adhesion; endothelial cell migration; protein autophosphorylation; epithelial tube morphogenesis; kidney morphogenesis; regulation of epithelial cell differentiation involved in kidney development; cell adhesion; endothelial cell proliferation; angiogenesis | Xp22.3 |
| PRKXP1 | - | 15q26.3 |
| PRKY | protein phosphorylation | Yp11.2 |
| PRL | positive regulation of JAK-STAT cascade; cell surface receptor signaling pathway; female pregnancy; lactation; cell proliferation; JAK-STAT cascade involved in growth hormone signaling pathway; regulation of multicellular organism growth | 6p22.2-p21.3 |
| PRLR | cell surface receptor signaling pathway; lactation; regulation of cell adhesion; regulation of epithelial cell differentiation; T cell activation; activation of JAK2 kinase activity; JAK-STAT cascade involved in growth hormone signaling pathway; mammary gland epithelial cell differentiation; prostate gland growth; mammary gland alveolus development; steroid biosynthetic process; anti-apoptosis; activation of transmembrane receptor protein tyrosine kinase activity; embryo implantation | 5p13.2 |
| PRM1 | multicellular organismal development; chromosome condensation; cell differentiation; spermatid development; spermatogenesis; nucleus organization; DNA packaging | 16p13.2 |
| PRM3 | multicellular organismal development; spermatogenesis; cell differentiation; chromosome condensation | 16p13.3 |
| PRMT1 | cell surface receptor signaling pathway; protein methylation; in utero embryonic development; histone methylation; peptidyl-arginine methylation; neuron projection development; histone H4-R3 methylation; negative regulation of megakaryocyte differentiation | 19q13.3 |
| PRMT2 | negative regulation of transcription, DNA-dependent; peptidyl-arginine N-methylation; histone arginine methylation; developmental cell growth; regulation of androgen receptor signaling pathway; protein methylation; induction of apoptosis; signal transduction; histone methylation; negative regulation of NF-kappaB transcription factor activity; positive regulation of transcription, DNA-dependent; negative regulation of G1/S transition of mitotic cell cycle | 21q22.3 |
| PRMT3 | peptidyl-arginine N-methylation | 11p15.1 |
| PRMT5 | spliceosomal snRNP assembly; gene expression; regulation of transcription, DNA-dependent; cell proliferation; RNA metabolic process; chromatin modification; peptidyl-arginine methylation; peptidyl-arginine methylation, to symmetrical-dimethyl arginine; ncRNA metabolic process; peptidyl-arginine N-methylation; regulation of mitosis; histone H4-R3 methylation | 14q11.2 |
| PRMT6 | peptidyl-arginine methylation, to asymmetrical-dimethyl arginine; base-excision repair; chromatin modification; histone methylation; histone H3-R2 methylation; histone H4-R3 methylation; interspecies interaction between organisms; negative regulation of transcription, DNA-dependent | 1p13.3 |
| PRMT7 | histone H4-R3 methylation; regulation of protein binding; DNA methylation involved in gamete generation; peptidyl-arginine omega-N-methylation; histone arginine methylation; cell differentiation; spliceosomal snRNP assembly; regulation of gene expression by genetic imprinting; regulation of transcription, DNA-dependent; histone methylation; chromatin modification; peptidyl-arginine methylation, to symmetrical-dimethyl arginine; peptidyl-arginine methylation | 16q22.1 |
| PRMT8 | histone arginine methylation; regulation of protein binding; peptidyl-arginine methylation, to asymmetrical-dimethyl arginine; peptidyl-arginine methylation; histone methylation | 12p13.3 |
| PRMT9 | - | 4q31.23 |
| PRNCR1 | - | 8q24.21 |
| PRND | cellular copper ion homeostasis; protein homooligomerization | 20pter-p12 |
| PRNP | metabolic process; negative regulation of calcineurin-NFAT signaling cascade; protein homooligomerization; negative regulation of T cell receptor signaling pathway; response to copper ion; response to cadmium ion; negative regulation of activated T cell proliferation; 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; axon guidance; cell cycle arrest; cell cycle; response to oxidative stress; anti-apoptosis; cellular copper ion homeostasis; negative regulation of protein phosphorylation | 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 | peptidyl-glutamic acid carboxylation; proteolysis; blood coagulation; leukocyte migration; cellular protein metabolic process; post-translational protein modification; negative regulation of apoptotic process; negative regulation of blood coagulation | 2q13-q14 |
| PROCA1 | lipid catabolic process | 17q11.2 |
| PROCR | blood coagulation; antigen processing and presentation; negative regulation of coagulation; immune response | 20q11.2 |
| PRODH | glutamate biosynthetic process; proline metabolic process; proline catabolic process; induction of apoptosis by oxidative stress; cellular nitrogen compound metabolic process; small molecule metabolic process | 22q11.21 |
| PRODH2 | proline catabolic process; glutamate biosynthetic process | 19q13.1 |
| PROK2 | elevation of cytosolic calcium ion concentration; neuropeptide signaling pathway; spermatogenesis; G-protein coupled receptor signaling pathway; circadian rhythm; cell proliferation; sensory perception of pain; inflammatory response; chemotaxis; positive regulation of smooth muscle contraction; activation of MAPK activity; angiogenesis; anti-apoptosis | 3p13 |
| PROKR1 | anti-apoptosis | 2p13.1 |
| PROKR2 | - | 20p12.3 |
| PROL1 | regulation of sensory perception of pain; negative regulation of endopeptidase activity; negative regulation of peptidase activity | 4q13.3 |
| PROM1 | retina layer formation; photoreceptor cell maintenance; retina morphogenesis in camera-type eye; camera-type eye photoreceptor cell differentiation | 4p15.32 |
| PROM2 | - | 2q11.1 |
| PROP1 | canonical Wnt receptor signaling pathway; 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; positive regulation of transcription from RNA polymerase II promoter; gland development; somatotropin secreting cell differentiation; hypophysis morphogenesis | 5q35.3 |
| PRORSD1P | - | 2p16.1 |
| PROS1 | platelet degranulation; cellular protein metabolic process; proteolysis; blood coagulation; negative regulation of endopeptidase activity; platelet activation; peptidyl-glutamic acid carboxylation; post-translational protein modification; leukocyte migration | 3q11.2 |
| PROSC | - | 8p11.2 |
| PROSER1 | - | 13q13.3 |
| PROSER2 | - | 10p14 |
| PROSER2-AS1 | - | 10p14 |
| PROSER3 | - | 19q13.12 |
| PROSP | - | 3p21-cen |
| PROX1 | endocardium formation; positive regulation of sarcomere organization; ventricular septum morphogenesis; aorta smooth muscle tissue morphogenesis; positive regulation of heart growth; lymphatic endothelial cell differentiation; 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; multicellular organismal development; embryonic retina morphogenesis in camera-type eye; otic placode formation; pancreas development; negative regulation of transcription from RNA polymerase II promoter; cell fate determination; kidney development; liver development; positive regulation of endothelial cell proliferation; lymphangiogenesis; lens development in camera-typ | 1q41 |
| PROX1-AS1 | - | 1q32.3 |
| PROX2 | multicellular organismal development; regulation of transcription, DNA-dependent | 14q24.3 |
| PROZ | proteolysis; cellular protein metabolic process; post-translational protein modification; peptidyl-glutamic acid carboxylation; blood coagulation | 13q34 |
| PRPF18 | mRNA processing; RNA splicing | 10p13 |
| PRPF19 | DNA repair; RNA splicing; lipid biosynthetic process; negative regulation of neuron differentiation; positive regulation of astrocyte differentiation; inner cell mass cell proliferation; nuclear mRNA splicing, via spliceosome; spliceosome assembly; protein polyubiquitination | 11q12.2 |
| PRPF3 | nuclear mRNA splicing, via spliceosome; RNA splicing; mRNA processing; RNA splicing, via transesterification reactions | 1q21.1 |
| PRPF31 | RNA splicing; assembly of spliceosomal tri-snRNP; nuclear mRNA splicing, via spliceosome | 19q13.42 |
| PRPF38A | mRNA processing; RNA splicing | 1p32.3 |
| PRPF38AP1 | - | 10p14 |
| PRPF38AP2 | - | 10p12.33 |
| PRPF38B | mRNA processing; RNA splicing | 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 | cell cycle; cell division; regulation of cytokinesis; cell migration; RNA splicing; regulation of cell shape; cytoskeleton organization; mRNA processing | 2q23.3 |
| PRPF40B | mRNA processing; RNA splicing | 12q |
| PRPF4B | RNA splicing; nuclear mRNA splicing, via spliceosome; protein phosphorylation | 6p25.2 |
| PRPF6 | gene expression; positive regulation of transcription from RNA polymerase II promoter; RNA splicing; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions; spliceosome assembly; assembly of spliceosomal tri-snRNP | 20q13.33 |
| PRPF8 | RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions; gene expression | 17p13.3 |
| PRPH | intermediate filament cytoskeleton organization | 12q12-q13 |
| PRPH2 | retina development in camera-type eye; visual perception; cell adhesion | 6p21.2-p12.3 |
| PRPS1 | 5-phosphoribose 1-diphosphate biosynthetic process; hypoxanthine biosynthetic process; carbohydrate metabolic process; purine base metabolic process; purine nucleotide biosynthetic process; nervous system development; nucleoside metabolic process; ribonucleoside monophosphate biosynthetic process; urate biosynthetic process; small molecule metabolic process; cellular biosynthetic process; pyrimidine nucleotide biosynthetic process | Xq22.3 |
| PRPS1L1 | cellular biosynthetic process; nucleotide biosynthetic process; ribonucleoside monophosphate biosynthetic process; nucleoside metabolic process | 7p21.1 |
| PRPS2 | nucleobase-containing compound metabolic process; nucleoside metabolic process; ribonucleoside monophosphate biosynthetic process; nucleotide biosynthetic process; cellular biosynthetic process | Xp22.2 |
| PRPSAP1 | negative regulation of catalytic activity; nucleotide biosynthetic process; nucleobase-containing compound metabolic process | 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 | cartilage development; artery morphogenesis; multicellular organismal development; embryonic cranial skeleton morphogenesis; positive regulation of smoothened signaling pathway; middle ear morphogenesis; inner ear morphogenesis; embryonic limb morphogenesis; regulation of transcription, DNA-dependent; positive regulation of mesenchymal cell proliferation | 9q34.1 |
| PRRX2-AS1 | - | 9q34.11 |
| PRSS1 | proteolysis; digestion | 7q34 |
| PRSS12 | proteolysis; zymogen activation | 4q28.1 |
| PRSS16 | proteolysis; protein catabolic process | 6p21 |
| PRSS2 | proteolysis; digestion; positive regulation of cell growth; collagen catabolic process; innate immune response; positive regulation of cell adhesion | 7q34 |
| PRSS21 | proteolysis | 16p13.3 |
| PRSS22 | proteolysis | 16p13.3 |
| PRSS23 | proteolysis | 11q14.1 |
| PRSS27 | proteolysis | 16p13.3 |
| PRSS29P | proteolysis | 16p13.3 |
| PRSS3 | proteolysis; digestion; zymogen activation; endothelial cell migration; innate immune response | 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 | response to amphetamine; nucleoside metabolic process; purine ribonucleoside salvage; adenine salvage; grooming behavior; guanine salvage; glucose 1-phosphate metabolic process; cytolysis; striatum development; cerebral cortex neuron differentiation; central nervous system neuron development; GMP salvage; IMP salvage; dendrite morphogenesis; positive regulation of dopamine metabolic process; GMP catabolic process; hypoxanthine metabolic process; lymphocyte proliferation | 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 | G1 phase; induction of apoptosis; apoptotic process | 9q21.2 |
| PRUNEP1 | - | 13q12.13 |
| PRX | axon ensheathment; nerve development | 19q13.2 |
| PRYP3 | - | Yq11.223 |
| PS1TP4 | - | - |
| PSAP | blood coagulation; small molecule metabolic process; positive regulation of catalytic activity; platelet activation; lipid transport; sphingolipid metabolic process; lipid metabolic process; platelet degranulation; glycosphingolipid metabolic process | 10q21-q22 |
| PSAPL1 | sphingolipid metabolic process; lipid metabolic process | 4p16.1 |
| PSAT1 | L-serine biosynthetic process; pyridoxine biosynthetic process; cellular amino acid biosynthetic process; cellular nitrogen compound metabolic process; small molecule 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 | negative regulation of ubiquitin-protein ligase activity; hemopoietic progenitor cell differentiation; T cell activation involved in immune response; negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; calcium ion transmembrane transport; regulation of resting membrane potential; regulation of synaptic transmission, glutamatergic; smooth endoplasmic reticulum calcium ion homeostasis; neuron migration; T cell receptor signaling pathway; positive regulation of coagulation; heart looping; positive regulation of protein phosphorylation; negative regulation of protein phosphorylation; positive regulation of receptor recycling; somitogenesis; cell fate specification; blood vessel development; activation of MAPKK activity; negative regulation of transcription from RNA polymerase II promoter; autophagic vacuole assembly; negative regulation of protein kinase activity; endoplasmic reticulum calcium ion homeostasis; synaptic vesicle targeting; cell-cell adhesion; pro | 14q24.3 |
| PSEN2 | memory; Notch receptor processing; Notch signaling pathway; negative regulation of epidermal growth factor-activated receptor activity; anti-apoptosis; apoptotic process; calcium ion transport; membrane protein ectodomain proteolysis; proteolysis; myeloid leukocyte differentiation; T cell activation involved in immune response; hemopoietic progenitor cell differentiation; hair follicle development; negative regulation of protein phosphorylation; embryo development; positive regulation of receptor recycling; somitogenesis; cell fate specification; response to hypoxia; negative regulation of transcription from RNA polymerase II promoter; dorsal/ventral neural tube patterning; regulation of synaptic plasticity; nerve growth factor receptor signaling pathway; skin morphogenesis; positive regulation of catalytic activity; positive regulation of apoptotic process; amyloid precursor protein catabolic process; anagen; locomotion; intracellular signal transduction; positive regulation of proteasomal ubiquitin-dependen | 1q31-q42 |
| PSENEN | 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; membrane protein ectodomain proteolysis; nerve growth factor receptor signaling pathway | 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 | defense response; female pregnancy | 19q13.2 |
| PSG4 | defense response; female pregnancy | 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 | interspecies interaction between organisms; positive regulation of transcription from RNA polymerase II promoter; initiation of viral infection; provirus integration; nuclear mRNA 5'-splice site recognition; regulation of transcription, DNA-dependent; viral reproduction; response to heat; response to oxidative stress | 9p22.3 |
| PSKH1 | protein phosphorylation | 16q22.1 |
| PSKH2 | - | 8q21.3 |
| PSMA1 | RNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent 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; 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; 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; mRNA metabolic process; negative regulation of ubiquitin-protein ligase acti | 11p15.1 |
| PSMA2 | G1/S transition of mitotic cell cycle; cellular nitrogen compound metabolic process; cell cycle checkpoint; 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; proteolysis involved in cellular protein catabolic process; protein polyubiquitination; antigen processing and presentation of exogenous peptide antigen via MHC class I; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; response to virus; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; regulation of cellular amino acid metabolic process; apoptotic process; ubiquitin-dependent protein catabolic process; antigen | 7p13 |
| PSMA2P2 | - | 8q22.1 |
| PSMA2P3 | - | 2q33.1 |
| PSMA3 | 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; mitotic cell cycle; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; 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 proc | 14q23 |
| PSMA3-AS1 | - | 14q23.1 |
| PSMA4 | viral reproduction; proteolysis involved in cellular protein catabolic 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; 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; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; 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 presentat | 15q25.1 |
| PSMA5 | 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 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; 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 a | 1p13 |
| PSMA6 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; 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; G1/S transition of mitotic cell cycle; 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; positive regulation of NF-kappaB transcription factor activity; negative regulation of ubiquitin-protein liga | 14q13 |
| PSMA7 | 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; 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; mRNA metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protei | 20q13.33 |
| PSMA8 | protein polyubiquitination; regulation of cellular amino acid metabolic process; ubiquitin-dependent protein catabolic process; apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; S phase of mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; cellular nitrogen compound metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; regulation of apoptotic process; mitotic cell cycle; cell cycle checkpoint; proteolysis involved in cellular protein catabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; small molecule metabolic process; positive regulation of u | 18q11.2 |
| PSMB1 | S phase of mitotic cell cycle; RNA metabolic process; viral reproduction; gene expression; small molecule metabolic process; cell cycle checkpoint; G1/S transition of mitotic cell cycle; proteolysis involved in cellular protein catabolic process; 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; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; 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; mRNA metabolic process; cellular nitrogen compound met | 6q27 |
| PSMB10 | S phase of mitotic cell cycle; 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; cell cycle checkpoint; G1/S transition of mitotic cell cycle; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; 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 compoun | 16q22.1 |
| PSMB2 | antigen processing and presentation of peptide antigen via MHC class I; regulation of cellular amino acid metabolic process; proteolysis involved in cellular protein catabolic process; 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; 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; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; interspecies interaction between organisms; small molecule metabolic process; cell cycle checkpoint; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of apoptotic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitroge | 1p34.2 |
| PSMB3 | cell cycle checkpoint; G1/S transition of mitotic cell cycle; mRNA metabolic process; RNA metabolic process; 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; gene expression; S phase of mitotic cell cycle; 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 process; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent | 17q12 |
| PSMB3P2 | - | 2q35 |
| PSMB4 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; negative regulation of inflammatory response to antigenic stimulus; 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; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; interspecies interaction between organisms; 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; negative regulation o | 1q21 |
| PSMB5 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; response to oxidative stress; 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; 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; proteolysis involved in cellular protein catabolic process; 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 | 14q11.2 |
| PSMB6 | gene expression; 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; 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 | 17p13 |
| PSMB7 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular nitrogen compound metabolic process; viral reproduction; mRNA metabolic process; RNA metabolic process; proteolysis involved in cellular protein catabolic process; 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; 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 | 9q34.11-q34.12 |
| PSMB8 | M/G1 transition of mitotic cell cycle; mRNA metabolic process; cytokine-mediated signaling pathway; proteolysis involved in cellular protein catabolic process; RNA metabolic process; viral reproduction; type I interferon-mediated signaling pathway; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; 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; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; fat cell differentiation; interspecies interaction between organisms; small molecule metabolic process; regulation of ubiquitin- | 6p21.3 |
| PSMB8-AS1 | - | - |
| PSMB9 | mRNA metabolic process; proteolysis involved in cellular 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; 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; viral reproduction; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein polyubiquitination; RNA metabolic process; M/G1 transition of mitotic cell cycle; mitotic cell cycle; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; regulation of cellular amin | 6p21.3 |
| PSMC1 | 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; RNA metabolic process; viral reproduction; 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; ATP catabolic process; regulation of cellular amino acid metabolic process; apoptotic process; DNA damage response, signal transd | 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 | RNA metabolic process; mRNA metabolic process; protein catabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; 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; cellular nitrogen compound metabolic process; gene expression; viral reproduction; 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 | 7q22.1-q22.3 |
| PSMC3 | 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; 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; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; gene expression; 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; blastocyst development; antigen processing an | 11p11.2 |
| PSMC3IP | positive regulation of transcription from RNA polymerase II promoter; meiosis; DNA recombination | 17q21.2 |
| PSMC4 | 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; 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; blastocyst development; 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; proteolysis; 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 activ | 19q13.11-q13.13 |
| PSMC5 | RNA metabolic process; protein catabolic 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; negative regulation of programmed cell death; proteasomal ubiquitin-dependent protein catabolic process; small molecule metabolic process; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; 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; gene expression; 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 | 17q23.3 |
| PSMC6 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; 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; 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; regulation of apoptotic process; 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 M | 14q22.1 |
| PSMC6P1 | - | 8q12.1 |
| PSMD1 | gene expression; 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; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; 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 cel | 2q37.1 |
| PSMD10 | mRNA metabolic process; cellular nitrogen compound metabolic process; RNA metabolic process; viral reproduction; gene expression; cytoplasmic sequestering of NF-kappaB; 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; positive regulation of cell growth; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein ubiquitination; negative regulation of NF-kappaB transcription factor activity; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; negative regulation of release of cytochrome c from mitochondria; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; G1/S transition of mitotic cell cycle; cel | Xq22.3 |
| PSMD10P1 | - | 20q13.13 |
| PSMD10P3 | - | 13q21 |
| PSMD11 | 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; 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; 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 cyc | 17q11.2 |
| PSMD12 | cell cycle checkpoint; 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; 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; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC cl | 17q24.2 |
| PSMD12P | - | 3p14 |
| PSMD13 | gene expression; meiosis I; RNA metabolic process; viral reproduction; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; regulation of cellular amino acid metabolic process; cell cycle checkpoint; 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 ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; mitotic cell cycle; M/G1 transition of mitotic cell cycle; protein polyubiquitination; G1/S t | 11p15.5 |
| PSMD14 | regulation of cellular amino acid metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; gene expression; apoptotic process; proteolysis; ubiquitin-dependent protein catabolic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; RNA metabolic process; viral reproduction; positive regulation of endopeptidase activity; small molecule metabolic process; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein K63-linked deubiquitination; 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; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; regulation of apoptotic process; antigen proce | 2q24.2 |
| PSMD2 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; viral reproduction; 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; gene expression; 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; pos | 3q27.1 |
| PSMD3 | antigen processing and presentation of peptide antigen via MHC class I; 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; regulation of protein catabolic process; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mRNA metabolic process; RNA metabolic process; gene expression; viral reproduction; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; regulation of cellular amino acid metabolic process; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein polyubi | 17q21.1 |
| PSMD4 | 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; gene expression; viral reproduction; 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; cell cycle checkpoint; G1/S transition of mitotic cell cycle; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; regulation of cellular amino acid metabolic process; S phase of mitotic cell cycle; protein polyubiquitination; M/G1 transition of mitotic cell cycle; antigen processing and presentation of exogenous peptide antigen | 1q21.3 |
| PSMD4P1 | - | 21q22.13 |
| PSMD5 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; apoptotic 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; antigen processing and presentation of exogenous peptide antigen via MHC class I; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; regulation of cellular amino acid metabolic process; cellular nitrogen compound metabolic process; M/G1 transition of mitotic cell cycle; protein polyubiquitination; S phase of mitotic cell cycle; proteasome regulatory particle assembly; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint; negative regulation of ubiquitin-protein ligase activity involved in m | 9q33.2 |
| PSMD5-AS1 | - | 9q33.2 |
| PSMD6 | 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; 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; 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; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; proteolysis; ATP catabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; | 3p14.1 |
| PSMD6-AS2 | - | 3p14 |
| PSMD7 | 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; 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 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 cyc | 16q22.3 |
| PSMD8 | 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; 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; 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 lig | 19q13.2 |
| PSMD9 | M/G1 transition of mitotic cell cycle; mitotic cell cycle; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; protein polyubiquitination; cellular nitrogen compound metabolic process; 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; antigen processing and presentation of exogenous peptide antigen via MHC class I; regulation of apoptotic process; proteasome regulatory particle assembly; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; | 12q24.31-q24.32 |
| PSME1 | mitotic cell cycle; 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 cycle checkpoint; M/G1 transition of mitotic cell cycle; protein polyubiquitination; S phase of mitotic cell cycle; G1/S transition of 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 e | 14q11.2 |
| PSME2 | mRNA metabolic process; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; M/G1 transition of mitotic cell cycle; RNA 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 ligase activity involved in mitotic cell cycle; 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 presentation of exogenous peptide antigen via MHC class I, TAP-depend | 14q11.2 |
| PSME2P1 | - | 5q21 |
| PSME2P2 | - | 13q13 |
| PSME3 | apoptotic process; 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; 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; positive regulation of endopeptidase activity; gene expression; regulation of proteasomal protein catabolic process; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; M/G1 transition of mitotic cell cycle; G1/S transition of mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein polyubiquitination; S phase of mitotic cell cycle; cell cycle checkpoint; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic | 17q21 |
| PSME4 | antigen processing and presentation of peptide antigen via MHC class I; multicellular organismal development; cell differentiation; mRNA metabolic process; RNA metabolic process; apoptotic process; viral reproduction; S phase of mitotic cell cycle; cell cycle checkpoint; spermatogenesis; regulation of cellular amino acid metabolic process; protein polyubiquitination; 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; cellular nitrogen compound metabolic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; regulation of apoptotic process; small molecule metabolic process; gene expression; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; mitotic cell cycle; M/G1 transition of mitotic cell cycle; regula | 2p16.2 |
| PSMF1 | ubiquitin-dependent protein catabolic process; mitotic cell cycle; antigen processing and presentation of peptide antigen via MHC class I; G1/S transition of mitotic cell cycle; M/G1 transition of mitotic cell cycle; protein polyubiquitination; cell cycle checkpoint; S phase of mitotic cell cycle; antigen processing and presentation of exogenous peptide antigen via MHC class I; mRNA metabolic process; RNA metabolic process; viral reproduction; negative regulation of endopeptidase activity; gene expression; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cellular nitrogen compound metabolic process; regulation of apoptotic process; small molecule metabolic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; reg | 20p13 |
| PSMG1 | proteasome assembly | 21q22.3 |
| PSMG2 | regulation of apoptotic process; proteasome assembly; regulation of cell cycle; mitotic cell cycle spindle assembly checkpoint | 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 biosynthetic process; small molecule metabolic process; cellular nitrogen compound metabolic process; response to testosterone stimulus; response to nutrient levels; response to mechanical stimulus; cellular amino acid biosynthetic process; L-serine metabolic process | 7p11.2 |
| PSPHP1 | cell proliferation | 7q11.2 |
| PSPN | branching involved in ureteric bud morphogenesis; nervous system development; axon guidance; central nervous system development | 19p13.3 |
| PSRC1 | microtubule bundle formation; cell division; mitosis; cell cycle; positive regulation of transcription, DNA-dependent; positive regulation of microtubule polymerization; negative regulation of cell growth; mitotic metaphase plate congression; regulation of mitotic spindle organization | 1p13.3 |
| PSTK | translation; selenocysteine incorporation | 10q26.13 |
| PSTPIP1 | cell adhesion; signal transduction; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response | 15q24-q25.1 |
| PSTPIP2 | - | 18q12 |
| PTAFR | cytokine production; interferon-gamma-mediated signaling pathway; phosphatidylinositol-mediated signaling; inositol trisphosphate biosynthetic process; response to lipopolysaccharide; cytokine-mediated signaling pathway; G-protein coupled receptor signaling pathway; immune response; inflammatory response; chemotaxis; pattern recognition receptor signaling pathway | 1p35-p34.3 |
| PTAR1 | protein prenylation | 9q21.12 |
| PTBP1 | mRNA processing; alternative nuclear mRNA splicing, via spliceosome; regulation of alternative nuclear mRNA splicing, via spliceosome; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; negative regulation of RNA splicing; negative regulation of nuclear mRNA splicing, via spliceosome; negative regulation of muscle cell differentiation | 19p13.3 |
| PTBP1P | - | 14q23.3 |
| PTBP2 | mRNA splice site selection; mRNA processing; negative regulation of RNA splicing | 1p21.3 |
| PTBP3 | negative regulation of RNA splicing; anatomical structure morphogenesis; mRNA processing; erythrocyte maturation; cell differentiation | 9q32 |
| PTCD2 | regulation of mRNA processing; muscle fiber development; heart development; ventricular cardiac muscle tissue morphogenesis; kidney development; liver development; mitochondrion organization | 5q13.2 |
| PTCD3 | - | 2p11.2 |
| PTCH1 | response to chlorate; regulation of smoothened signaling pathway; epidermis development; brain development; pattern specification process; regulation of mitotic cell cycle; smoothened signaling pathway; regulation of growth; cellular response to cholesterol; somite development; cell differentiation involved in kidney development; mammary gland epithelial cell differentiation; mammary gland duct morphogenesis; pharyngeal system development; negative regulation of epithelial cell proliferation; negative regulation of smoothened signaling pathway; negative regulation of osteoblast differentiation; keratinocyte proliferation; negative regulation of sequence-specific DNA binding transcription factor activity; glucose homeostasis; negative regulation of multicellular organism growth; organ morphogenesis; hindlimb morphogenesis; limb morphogenesis; regulation of protein localization; mammary gland development; embryonic limb morphogenesis; neural plate axis specification; dorsal/ventral neural tube patterning; neura | 9q22.3 |
| PTCH2 | hair cycle; skin development; negative regulation of smoothened signaling pathway | 1p34.1 |
| PTCHD1 | smoothened signaling pathway; cognition | 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 migration; negative regulation of cell proliferation; fibroblast growth factor receptor signaling pathway; regulation of neuron projection development; protein kinase B signaling cascade; negative regulation of apoptotic process; peptidyl-tyrosine dephosphorylation; regulation of myeloid cell apoptosis; negative regulation of cyclin-dependent protein kinase activity involved in G1/S; regulation of protein stability; 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; cell migration; negative regulation of G1/S transition of mitotic cell cycle; posit | 10q23.3 |
| PTENP1 | - | 9p21 |
| PTENP1-AS | - | - |
| PTER | catabolic process | 10p12 |
| PTF1A | endocrine pancreas development; positive regulation of transcription, DNA-dependent; retinoic acid receptor signaling pathway; hindbrain development; neuron fate commitment; generation of neurons; retina morphogenesis in camera-type eye; tissue development; exocrine pancreas development; regulation of transcription, DNA-dependent; 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 | G-protein coupled receptor signaling pathway; positive regulation of G-protein coupled receptor protein signaling pathway; chemotaxis; immune response; calcium-mediated signaling; inhibition of adenylate cyclase activity by G-protein signaling pathway | 11q12-q13.3 |
| PTGDS | transport; regulation of circadian sleep/wake cycle, sleep; prostaglandin biosynthetic process; fatty acid biosynthetic process; response to glucocorticoid stimulus | 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 eosinophil extravasation; cellular response to mechanical stimulus; ERK1 and ERK2 cascade; bone development; regulation of stress fiber assembly; positive regulation of inflammatory response; negative regulation of inflammatory response; positive 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; negative regulation of cytokine secretion | 5p13.1 |
| PTGER4P2-CDK2AP2P2 | - | 9q13 |
| PTGES | fatty acid biosynthetic process; prostaglandin metabolic process; signal transduction; negative regulation of cell proliferation; prostaglandin biosynthetic process | 9q34.3 |
| PTGES2 | prostaglandin biosynthetic process; secretion; fatty acid biosynthetic process; cell redox homeostasis; positive regulation of transcription, DNA-dependent | 9q34.11 |
| PTGES3 | signal transduction; glucocorticoid receptor signaling pathway; chaperone cofactor-dependent protein refolding; lung saccule development; small molecule metabolic process; skin development; prostanoid metabolic process; fatty acid biosynthetic process; glycogen biosynthetic process; cell proliferation; telomere maintenance; prostaglandin biosynthetic process | 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 | prostaglandin biosynthetic process; lipid metabolic process; fatty acid biosynthetic process; cellular response to interleukin-6; cellular response to interleukin-1; icosanoid metabolic process; prostanoid metabolic process; xenobiotic metabolic process; small molecule metabolic process; oxidation-reduction process | 20q13.13 |
| PTGR1 | leukotriene metabolic process; response to toxin | 9q31.3 |
| PTGR2 | prostaglandin metabolic process | 14q24.3 |
| PTGS1 | response to organic nitrogen; aging; response to oxidative stress; xenobiotic metabolic process; prostanoid metabolic process; fatty acid biosynthetic process; lipid metabolic process; prostaglandin biosynthetic process; 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; regulation of blood pressure; response to corticosterone stimulus | 9q32-q33.3 |
| PTGS2 | negative regulation of cell proliferation; memory; response to fructose stimulus; response to manganese ion; response to organic nitrogen; positive regulation vascular endothelial growth factor production; response to organic cyclic compound; cyclooxygenase pathway; bone mineralization; ovulation; positive regulation of prostaglandin biosynthetic process; positive regulation of smooth muscle contraction; positive regulation of synaptic transmission, glutamatergic; negative regulation of calcium ion transport; regulation of cell cycle; response to glucocorticoid stimulus; regulation of inflammatory response; positive regulation of smooth muscle cell proliferation; decidualization; oxidation-reduction process; positive regulation of transforming growth factor beta production; positive regulation of cell migration involved in sprouting angiogenesis; positive regulation of fibroblast growth factor production; positive regulation of brown fat cell differentiation; positive regulation of platelet-derived growth fac | 1q25.2-q25.3 |
| PTH1R | chondrocyte differentiation; osteoblast development; skeletal system development; cell maturation; bone resorption; bone mineralization; negative regulation of cell proliferation; positive regulation of cell proliferation; aging; 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; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor signaling pathway; cellular calcium ion homeostasis | 3p22-p21.1 |
| PTH2 | neuropeptide signaling pathway | 19q13.33 |
| PTH2R | G-protein coupled receptor signaling pathway | 2q33 |
| PTHLH | positive regulation of cell proliferation; skeletal system development; endochondral ossification; osteoblast development; activation of adenylate cyclase activity by G-protein signaling pathway; cell-cell signaling; endoderm development; female pregnancy; epidermis development; negative regulation of cell proliferation; surfactant homeostasis; negative regulation of chondrocyte differentiation; epithelial cell differentiation; positive regulation of cAMP biosynthetic process; protein processing; regulation of gene expression; nipple sheath formation; mammary gland bud elongation; negative regulation of sequence-specific DNA binding transcription factor activity; cAMP metabolic process; lung alveolus development | 12p12.1-p11.2 |
| PTK2 | platelet activation; central nervous system neuron axonogenesis; regulation of cell adhesion mediated by integrin; netrin-activated signaling pathway; establishment of nucleus localization; regulation of cell proliferation; negative regulation of apoptotic process; protein phosphorylation; integrin-mediated signaling pathway; signal complex assembly; cellular component disassembly involved in apoptosis; apoptotic process; positive regulation of protein kinase activity; establishment of cell polarity; peptidyl-tyrosine phosphorylation; positive regulation of phosphatidylinositol 3-kinase cascade; regulation of endothelial cell migration; embryo development; regulation of cell shape; positive regulation of cell proliferation; blood coagulation; axon guidance; regulation of Rho GTPase activity; positive regulation of cell migration; extracellular matrix organization; protein autophosphorylation; regulation of focal adhesion assembly; positive regulation of protein kinase B signaling cascade; negative regulation | 8q24.3 |
| PTK2B | cell differentiation; regulation of establishment of cell polarity; response to hydrogen peroxide; response to drug; response to cocaine; tumor necrosis factor-mediated signaling pathway; regulation of inositol trisphosphate biosynthetic process; activation of Rac GTPase activity; positive regulation of actin filament polymerization; negative regulation of bone mineralization; positive regulation of cell migration; positive regulation of cell growth; regulation of cell adhesion; regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; 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; regulation of cell shape; positive regulation of cell proliferation; integrin-mediated signaling pathway; positive regulation of JUN kinase acti | 8p21.1 |
| PTK6 | positive regulation of neuron projection development; protein phosphorylation; cell migration; tyrosine phosphorylation of Stat3 protein; tyrosine phosphorylation of Stat5 protein; protein autophosphorylation; negative regulation of protein tyrosine kinase activity; cellular response to retinoic acid | 20q13.3 |
| PTK7 | cochlea morphogenesis; cellular response to retinoic acid; positive regulation of neuron projection development; cell migration; actin cytoskeleton reorganization; wound healing; establishment of epithelial cell apical/basal polarity; convergent extension; canonical Wnt receptor signaling pathway; lung-associated mesenchyme development; planar cell polarity pathway involved in neural tube closure; signal transduction; cell adhesion; axis elongation; neural tube closure; establishment of planar polarity | 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 | bone mineralization; transmembrane receptor protein tyrosine phosphatase signaling pathway; nervous system development; learning; positive regulation of cell proliferation; positive regulation of cell division | 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 | protein dephosphorylation; inositol phosphate dephosphorylation | 11p11.2 |
| PTPN1 | actin cytoskeleton reorganization; negative regulation of insulin receptor signaling pathway; blood coagulation; regulation of signal transduction; cytokine-mediated signaling pathway; regulation of endocytosis; platelet activation; peptidyl-tyrosine dephosphorylation; 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 | 20q13.1-q13.2 |
| PTPN11 | regulation of cell adhesion mediated by integrin; T cell costimulation; cytokine-mediated signaling pathway; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; blood coagulation; axon guidance; epidermal growth factor receptor signaling pathway; peptidyl-tyrosine dephosphorylation; ephrin receptor signaling pathway; leukocyte migration; interferon-gamma-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway | 12q24 |
| PTPN12 | protein dephosphorylation | 7q11.23 |
| PTPN13 | protein dephosphorylation; peptidyl-tyrosine dephosphorylation | 4q21.3 |
| PTPN14 | lymphangiogenesis; protein dephosphorylation; peptidyl-tyrosine dephosphorylation | 1q32.2 |
| PTPN18 | protein dephosphorylation | 2q21.1 |
| PTPN2 | regulation of interferon-gamma-mediated signaling pathway; interferon-gamma-mediated signaling pathway; peptidyl-tyrosine dephosphorylation; protein dephosphorylation; insulin receptor signaling pathway; cytokine-mediated signaling pathway | 18p11.3-p11.2 |
| PTPN20 | - | 10q11.22 |
| PTPN21 | peptidyl-tyrosine dephosphorylation; protein dephosphorylation | 14q31.3 |
| PTPN22 | negative regulation of T cell receptor signaling pathway; regulation of B cell receptor signaling pathway; regulation of innate immune response; phosphoanandamide dephosphorylation; peptidyl-tyrosine dephosphorylation; regulation of natural killer cell proliferation; T cell differentiation; protein dephosphorylation; negative regulation of T cell activation | 1p13.2 |
| PTPN23 | cilium morphogenesis; cell projection organization | 3p21.3 |
| PTPN2P1 | - | 1q25.2 |
| PTPN3 | negative regulation of mitotic cell cycle; negative regulation of membrane protein ectodomain proteolysis; peptidyl-tyrosine dephosphorylation; protein dephosphorylation | 9q31 |
| PTPN4 | protein dephosphorylation | 2q14.2 |
| PTPN5 | protein dephosphorylation; peptidyl-tyrosine dephosphorylation | 11p15.1 |
| PTPN6 | JAK-STAT cascade involved in growth hormone signaling pathway; regulation of type I interferon-mediated signaling pathway; regulation of ERK1 and ERK2 cascade; regulation of G1/S transition of mitotic cell cycle; type I interferon-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway; interferon-gamma-mediated signaling pathway; leukocyte migration; protein dephosphorylation; apoptotic process; positive regulation of cell proliferation; positive regulation of phosphatidylinositol 3-kinase cascade; peptidyl-tyrosine phosphorylation; cytokine-mediated signaling pathway; cell differentiation; T cell costimulation; peptidyl-tyrosine dephosphorylation; negative regulation of peptidyl-tyrosine phosphorylation; cell proliferation; blood coagulation; G-protein coupled receptor signaling pathway | 12p13 |
| PTPN7 | peptidyl-tyrosine dephosphorylation; protein dephosphorylation | 1q32.1 |
| PTPN9 | protein dephosphorylation; peptidyl-tyrosine dephosphorylation | 15q24.2 |
| PTPRA | insulin receptor signaling pathway; peptidyl-tyrosine dephosphorylation; axon guidance; protein phosphorylation | 20p13 |
| PTPRB | phosphate-containing compound metabolic process; protein dephosphorylation; angiogenesis; dephosphorylation | 12q15-q21 |
| PTPRC | bone marrow development; negative regulation of T cell mediated cytotoxicity; negative regulation of cytokine-mediated signaling pathway; hemopoietic progenitor cell differentiation; immunoglobulin biosynthetic process; negative regulation of protein kinase activity; protein dephosphorylation; negative regulation of cell adhesion involved in substrate-bound cell migration; cell surface receptor signaling pathway; regulation of cell cycle; T cell differentiation; positive regulation of B cell proliferation; regulation of S phase; peptidyl-tyrosine dephosphorylation; B cell proliferation; positive regulation of T cell proliferation; positive regulation of stem cell proliferation; positive regulation of hematopoietic stem cell migration; dephosphorylation; 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; positive regulation of | 1q31-q32 |
| PTPRCAP | defense response | 11q13.3 |
| PTPRD | phosphate-containing compound metabolic process; transmembrane receptor protein tyrosine phosphatase signaling pathway; protein dephosphorylation | 9p23-p24.3 |
| PTPRD-AS1 | - | 9p24.1 |
| PTPRE | transmembrane receptor protein tyrosine phosphatase signaling pathway; regulation of mast cell activation; negative regulation of insulin receptor signaling pathway; protein dephosphorylation; protein phosphorylation | 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; negative regulation of insulin receptor signaling pathway; regulation of synapse structure and activity; negative regulation of cell proliferation; positive regulation of dendrite morphogenesis; nervous system development; negative regulation of cell projection organization; peptidyl-tyrosine dephosphorylation; negative regulation of epidermal growth factor receptor signaling pathway; positive regulation of neuron apoptosis | 1p34 |
| PTPRG | peptidyl-tyrosine dephosphorylation; transmembrane receptor protein tyrosine kinase signaling pathway | 3p21-p14 |
| PTPRG-AS1 | - | - |
| PTPRH | apoptotic process; protein dephosphorylation | 19q13.4 |
| PTPRJ | negative regulation of cell proliferation; negative regulation of epidermal growth factor receptor signaling pathway; peptidyl-tyrosine dephosphorylation; 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 vascular permeability; blood coagulation; vasculogenesis; positive regulation of cell-matrix adhesion; heart development; negative regulation of MAP kinase activity; negative regulation of receptor activity; contact inhibition; negative regulation of protein kinase B signaling cascade; positive regulation of protein kinase B signaling cascade; 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 p | 11p11.2 |
| PTPRK | signal transduction; protein dephosphorylation; negative regulation of keratinocyte proliferation; negative regulation of cell proliferation; transforming growth factor beta receptor signaling pathway; cell adhesion; 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 | 6q22.2-q22.3 |
| PTPRM | protein dephosphorylation; negative regulation of endothelial cell proliferation; neuron projection development; negative regulation of angiogenesis; retina layer formation; negative regulation of endothelial cell migration; signal transduction; homophilic cell adhesion; cell adhesion; retinal ganglion cell axon guidance; peptidyl-tyrosine dephosphorylation; response to drug; positive regulation of vasodilation | 18p11.2 |
| PTPRN | response to glucose stimulus; response to reactive oxygen species; cytokine-mediated signaling pathway; response to insulin stimulus; response to estrogen stimulus; response to cAMP | 2q35-q36.1 |
| PTPRN2 | protein dephosphorylation; negative regulation of GTPase activity | 7q36 |
| PTPRO | glomerulus development; cell morphogenesis; monocyte chemotaxis; regulation of glomerular filtration; negative regulation of glomerular filtration; protein dephosphorylation; axon guidance; negative regulation of cell-substrate adhesion; negative regulation of neuron projection development; lamellipodium assembly; peptidyl-tyrosine dephosphorylation; slit diaphragm assembly; glomerular visceral epithelial cell differentiation; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of retinal ganglion cell axon guidance | 12p13.3-p13.2|12p13-p12 |
| PTPRQ | regulation of fat cell differentiation; inner ear morphogenesis | 12q21.2 |
| PTPRR | in utero embryonic development; protein dephosphorylation; nervous system development; neuron differentiation; peptidyl-tyrosine dephosphorylation | 12q15 |
| PTPRS | hippocampus development; cell adhesion; cerebral cortex development; corpus callosum development; cerebellum development; spinal cord development | 19p13.3 |
| PTPRT | protein dephosphorylation; cell adhesion; homophilic cell adhesion; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; peptidyl-tyrosine dephosphorylation | 20q12-q13 |
| PTPRU | canonical Wnt receptor signaling pathway; cell-cell adhesion; peptidyl-tyrosine dephosphorylation; protein localization at cell surface; homotypic cell-cell adhesion; cell adhesion; cell differentiation; negative regulation of cell migration; transmembrane receptor protein tyrosine phosphatase signaling pathway; protein dephosphorylation; negative regulation of cell proliferation | 1p35.3 |
| PTPRVP | - | 1q32.1 |
| PTPRZ1 | central nervous system development; protein dephosphorylation; axonogenesis | 7q31.3 |
| PTRF | transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; termination of RNA polymerase I transcription; gene expression; regulation of transcription, DNA-dependent | 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 | chromosome segregation; mitosis; spermatogenesis; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; chromosome organization; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; DNA repair; mitotic cell cycle; 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 phagocytosis; positive regulation of nitric oxide biosynthetic process; opsonization; inflammatory response; response to yeast | 3q25 |
| PTX4 | - | 16p13.3 |
| PUDP | nucleotide metabolic process | Xp22.32 |
| PUF60 | regulation of transcription, DNA-dependent; RNA splicing; apoptotic process; mRNA processing | 8q24.3 |
| PUM1 | regulation of translation; cellular membrane organization; post-Golgi vesicle-mediated transport | 1p35.2 |
| PUM2 | regulation of translation | 2p22-p21 |
| PUM3 | - | 9p24.2 |
| PURA | negative regulation of transcription, DNA-dependent; nervous system development; negative regulation of translation; positive regulation of cell proliferation; DNA-dependent DNA replication initiation; DNA unwinding involved in replication | 5q31 |
| PURB | negative regulation of transcription, DNA-dependent; regulation of myeloid cell differentiation | 7p13 |
| PURG | - | 8p11 |
| PUS1 | tRNA processing; positive regulation of transcription from RNA polymerase II promoter; tRNA pseudouridine synthesis; metabolic process | 12q24.33 |
| PUS10 | tRNA processing; pseudouridine synthesis | 2p16.1 |
| PUS3 | tRNA processing; tRNA pseudouridine synthesis | 11q24.2 |
| PUS7 | tRNA processing; pseudouridine synthesis | 7q22.3 |
| PUS7L | tRNA processing; pseudouridine synthesis | 12q12 |
| PUSL1 | pseudouridine synthesis; tRNA processing | 1p36.33 |
| PVALB | - | 22q13.1 |
| PVR | cell-cell adhesion; 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 | 19q13.2 |
| PVRIG | - | 7q22.1 |
| PVRL1 | retina development in camera-type eye; regulation of synapse assembly; cell adhesion; entry of virus into host cell; cell-cell junction organization; interspecies interaction between organisms; adherens junction organization; cell junction assembly; cell-cell adhesion; axon guidance; heterophilic cell-cell adhesion; homophilic cell adhesion; immune response; lens morphogenesis in camera-type eye | 11q23.3 |
| PVRL2 | acrosome assembly; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; cytoskeleton organization; susceptibility to T cell mediated cytotoxicity; adhesion to symbiont; establishment of mitochondrion localization; regulation of immune response; virion attachment, binding of host cell surface coreceptor; positive regulation of natural killer cell mediated cytotoxicity; cell-cell junction organization; interspecies interaction between organisms; flagellum organization; susceptibility to natural killer cell mediated cytotoxicity; adherens junction organization; cell junction assembly; positive regulation of immunoglobulin mediated immune response; cell adhesion; homophilic cell adhesion; spermatid development; positive regulation of mast cell activation; cell part morphogenesis; sperm mitochondrion organization; viral envelope fusion with host membrane; fertilization; spermatid nucleus differentiation | 19q13.2 |
| PVRL3 | lens morphogenesis in camera-type eye; cell-cell junction organization; retina morphogenesis in camera-type eye; cell junction assembly; adherens junction organization; homophilic cell adhesion; fertilization | 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 | extracellular matrix organization; negative regulation of cytokine-mediated signaling pathway; immune response; oxidation-reduction process; hydrogen peroxide catabolic process; response to oxidative stress | 2p25 |
| PXDNL | response to oxidative stress; hydrogen peroxide catabolic process; oxidation-reduction process | 8q11.22-q11.23 |
| PXK | regulation of synaptic transmission; negative regulation of ion transport; negative regulation of ATPase activity; cell communication; inflammatory response; protein phosphorylation | 3p14.3 |
| PXMP2 | - | 12q24.33 |
| PXMP4 | - | 20q11.22 |
| PXN | activation of MAPK activity; cellular component movement; cell junction assembly; muscle contraction; cellular response to reactive oxygen species; focal adhesion assembly; lamellipodium assembly; peptidyl-tyrosine phosphorylation; epidermal growth factor receptor signaling pathway; signal complex assembly; signal transduction; cell adhesion; cytoskeleton organization; branching morphogenesis of a tube; growth hormone receptor signaling pathway | 12q24.31 |
| PXN-AS1 | - | - |
| PXYLP1 | - | 3q23 |
| PYCARD | induction of apoptosis; proteolysis; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; regulation of apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; signal transduction; positive regulation of NF-kappaB transcription factor activity; positive regulation of interleukin-1 beta secretion; tumor necrosis factor-mediated signaling pathway; innate immune response | 16p11.2 |
| PYCR1 | proline biosynthetic process; response to stress; cellular response to oxidative stress; cellular amino acid biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 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 | innate immune response; proteolysis; negative regulation of NF-kappaB transcription factor activity; negative regulation of protein kinase activity; positive regulation of interleukin-1 beta secretion; tumor necrosis factor-mediated signaling pathway | 16p11.2 |
| PYGB | glycogen catabolic process; glucose metabolic process; small molecule metabolic process; carbohydrate metabolic process | 20p11.21 |
| PYGL | glycogen catabolic process; glycogen metabolic process; carbohydrate metabolic process; glucose homeostasis; small molecule metabolic process; glucose metabolic process; 5-phosphoribose 1-diphosphate biosynthetic process | 14q21-q22 |
| PYGM | cellular calcium ion homeostasis; response to hypoxia; carbohydrate metabolic process; glucose metabolic process; small molecule metabolic process; response to cAMP; glycogen metabolic process; glycogen catabolic process | 11q12-q13.2 |
| PYGO1 | post-embryonic development; kidney development; Wnt receptor signaling pathway | 15q21.1 |
| PYGO2 | kidney development; in utero embryonic development; lens development in camera-type eye; brain development; palate development; post-embryonic development; developmental growth; Wnt receptor signaling pathway | 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 | cellular component movement; cytoskeleton organization; G-protein coupled receptor signaling pathway; cell-cell signaling; digestion; feeding behavior; cell proliferation; negative regulation of response to food; eating behavior | 17q21.1 |
| PYY2 | - | 17q11 |
| PYY3 | - | Xp11.22 |
| PZP | negative regulation of endopeptidase activity; female pregnancy | 12p13-p12.2 |
| QARS | gene expression; glutaminyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 3p21.31 |
| QDPR | L-phenylalanine catabolic process; cellular amino acid metabolic process; liver development; response to lead ion; dihydrobiopterin metabolic process; small molecule metabolic process; cellular response to drug; cellular nitrogen compound metabolic process; response to glucagon stimulus; tetrahydrobiopterin biosynthetic process; response to aluminum ion | 4p15.31 |
| QKI | RNA splicing; vasculogenesis; mRNA processing; regulation of translation; transport; multicellular organismal development; positive regulation of gene expression; myelination; muscle cell differentiation; long-chain fatty acid biosynthetic process; mRNA transport | 6q26 |
| QPCT | proteolysis; protein modification process; 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 | NAD metabolic process; water-soluble vitamin metabolic process; vitamin metabolic process; NAD biosynthetic process; quinolinate catabolic process; protein oligomerization; small molecule metabolic process; pyridine nucleotide 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 | cell redox homeostasis; protein thiol-disulfide exchange | 1q24 |
| QSOX2 | cell redox homeostasis | 9q34.3 |
| QTRT1 | tRNA modification; queuosine biosynthetic process | 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 | protein localization in plasma membrane; cytokinesis; GTP catabolic process; cell cycle; small GTPase mediated signal transduction; protein transport; vesicle-mediated transport; neuron projection development; plasma membrane to endosome transport | 15q22.31 |
| RAB11AP1 | - | 10q23.33 |
| RAB11B | small GTPase mediated signal transduction; cell cycle; GTP catabolic process; protein transport | 19p13.2 |
| RAB11B-AS1 | - | - |
| RAB11FIP1 | protein transport | 8p11.22 |
| RAB11FIP1P1 | - | Xq13.2 |
| RAB11FIP2 | protein transport; establishment of cell polarity | 10q26.11 |
| RAB11FIP3 | vesicle-mediated transport; endocytic recycling; cell cycle; 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 | GTP catabolic process; cell adhesion; small GTPase mediated signal transduction; protein transport; vesicle-mediated transport | 1q21.2 |
| RAB14 | small GTPase mediated signal transduction; neurotransmitter secretion; body fluid secretion; fibroblast growth factor receptor signaling pathway; protein transport; vesicle-mediated transport; regulation of protein localization; apical protein localization; intracellular transport; Golgi to endosome transport; GTP catabolic process; embryo development | 9q32-q34.11 |
| RAB15 | small GTPase mediated signal transduction; protein transport | 14q23.3 |
| RAB17 | small GTPase mediated signal transduction; protein transport | 2q37.3 |
| RAB18 | multicellular organismal development; brain development; protein transport; small GTPase mediated signal transduction; eye development; GTP catabolic process; endocytosis; regulation of transcription, DNA-dependent | 10p12.1 |
| RAB19 | protein transport; small GTPase mediated signal transduction | 7q34 |
| RAB1A | vesicle-mediated transport; protein transport; small GTPase mediated signal transduction; GTP catabolic process | 2p14 |
| RAB1B | small GTPase mediated signal transduction; protein transport | 11q12 |
| RAB1C | protein transport; small GTPase mediated signal transduction | 9p13.2 |
| RAB20 | small GTPase mediated signal transduction; protein transport | 13q34 |
| RAB21 | GTP catabolic process; protein transport; small GTPase mediated signal transduction | 12q21.1 |
| RAB22A | protein transport; endocytosis; endosome organization; small GTPase mediated signal transduction; GTP catabolic process | 20q13.32 |
| RAB23 | signal transduction; small GTPase mediated signal transduction; nervous system development; regulation of smoothened signaling pathway; protein transport; spinal cord dorsal/ventral patterning; embryonic digit morphogenesis; negative regulation of proteolysis | 6p11 |
| RAB24 | autophagy; protein transport; small GTPase mediated signal transduction | 5q35.3 |
| RAB25 | positive regulation of cell proliferation; pseudopodium organization; protein transport; small GTPase mediated signal transduction | 1q22 |
| RAB26 | exocrine system development; regulation of exocytosis; protein transport; small GTPase mediated signal transduction | 16p13.3 |
| RAB27A | blood coagulation; positive regulation of exocytosis; natural killer cell degranulation; cytotoxic T cell degranulation; melanosome transport; melanosome localization; melanocyte differentiation; protein transport; small GTPase mediated signal transduction; exocytosis; protein targeting; GTP catabolic process; multivesicular body sorting pathway; pigmentation | 15q15-q21.1 |
| RAB27B | GTP catabolic process; small GTPase mediated signal transduction; 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 | vesicle-mediated transport; protein transport; small GTPase mediated signal transduction; positive regulation of exocytosis | 14q11.2 |
| RAB30 | GTP catabolic process; small GTPase mediated signal transduction; protein transport | 11q12-q14 |
| RAB30-AS1 | - | - |
| RAB31 | protein transport; GTP catabolic process; small GTPase mediated signal transduction; Golgi vesicle transport | 18p11.3 |
| RAB32 | protein transport; small GTPase mediated signal transduction | 6q24.3 |
| RAB33A | protein transport; GTP catabolic process; small GTPase mediated signal transduction | Xq26.1 |
| RAB33B | protein transport; small GTPase mediated signal transduction | 4q28 |
| RAB34 | protein transport; small GTPase mediated signal transduction; endocytosis | 17q11.2 |
| RAB35 | endosome transport; protein transport; protein localization; small GTPase mediated signal transduction; GTP catabolic process; cytokinesis | 12q24.31 |
| RAB36 | protein transport; small GTPase mediated signal transduction | 22q11.22 |
| RAB37 | small GTPase mediated signal transduction; protein transport | 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 | neuromuscular synaptic transmission; axonogenesis; response to electrical stimulus; GTP catabolic process; mitochondrion organization; small GTPase mediated signal transduction; synaptic transmission; neurotransmitter secretion; respiratory system process; sensory perception of touch; maintenance of presynaptic active zone structure; regulation of synaptic vesicle fusion to presynaptic membrane; lung development; regulation of exocytosis; synaptic vesicle maturation; synaptic vesicle exocytosis; protein transport; glutamate secretion; post-embryonic development | 19p13.2 |
| RAB3B | small GTPase mediated signal transduction; peptidyl-cysteine methylation; regulation of exocytosis; protein transport; GTP catabolic process | 1p32-p31 |
| RAB3C | small GTPase mediated signal transduction; protein transport; regulation of exocytosis | 5q13 |
| RAB3D | peptidyl-cysteine methylation; regulation of exocytosis; small GTPase mediated signal transduction; protein transport; GTP catabolic process | 19p13.2 |
| RAB3GAP1 | brain development; camera-type eye development; hypothalamus development; face morphogenesis; regulation of GTPase activity; positive regulation of Rab GTPase activity | 2q21.3 |
| RAB3GAP2 | regulation of GTPase activity; positive regulation of GTPase activity; positive regulation of catalytic activity; intracellular protein transport | 1q41 |
| RAB3IL1 | - | 11q12.2 |
| RAB3IP | cilium assembly; protein localization to organelle; protein transport; Golgi to plasma membrane transport | 12q15 |
| RAB40B | small GTPase mediated signal transduction; protein transport | 17q25.3 |
| RAB40C | small GTPase mediated signal transduction; protein transport | 16p13.3 |
| RAB41 | protein transport; small GTPase mediated signal transduction | Xq13.1 |
| RAB42 | small GTPase mediated signal transduction | 1p35.3 |
| RAB43 | protein transport; small GTPase mediated signal transduction | 3q21.3 |
| RAB43P1 | - | 16q11.2 |
| RAB44 | small GTPase mediated signal transduction; protein transport | 6p21.31-p21.2 |
| RAB4B | small GTPase mediated signal transduction; protein transport; GTP catabolic process; vesicle-mediated transport | 19q13.2 |
| RAB5A | GTP catabolic process; endocytosis; small GTPase mediated signal transduction; nervous system development; blood coagulation; protein transport; cell differentiation; positive regulation of exocytosis; regulation of filopodium assembly; receptor internalization involved in canonical Wnt receptor signaling pathway | 3p24-p22 |
| RAB5B | GTP catabolic process; small GTPase mediated signal transduction; protein transport | 12q13 |
| RAB5C | GTP catabolic process; endosome organization; small GTPase mediated signal transduction; protein transport; regulation of endocytosis | 17q21.2 |
| RAB5CP1 | - | - |
| RAB6A | protein targeting to Golgi; GTP catabolic process; retrograde vesicle-mediated transport, Golgi to ER; small GTPase mediated signal transduction; protein transport; minus-end-directed organelle transport along microtubule; protein localization in Golgi apparatus; peptidyl-cysteine methylation; vesicle-mediated transport | 11q13.3 |
| RAB6B | vesicle-mediated transport; protein transport; small GTPase mediated signal transduction; retrograde vesicle-mediated transport, Golgi to ER; GTP catabolic process | 3q22.1 |
| RAB6C | GTP catabolic process; response to drug; protein transport; small GTPase mediated signal transduction | 2q21.1 |
| RAB6C-AS1 | - | 2q21.1 |
| RAB7A | small GTPase mediated signal transduction; endocytosis; endosome to lysosome transport; protein transport; early endosome to late endosome transport; phagosome maturation; epidermal growth factor catabolic process; GTP catabolic process | 3q21.3 |
| RAB7B | negative regulation of toll-like receptor 9 signaling pathway; small GTPase mediated signal transduction; protein transport; positive regulation of interleukin-6 production; negative regulation of toll-like receptor 4 signaling pathway; late endosome to Golgi transport; positive regulation of megakaryocyte differentiation; positive regulation of NF-kappaB transcription factor activity | 1q32 |
| RAB8A | Golgi vesicle fusion to target membrane; cilium assembly; protein transport; small GTPase mediated signal transduction; vesicle docking involved in exocytosis | 19p13.1 |
| RAB8B | positive regulation of corticotropin secretion; GTP catabolic process; small GTPase mediated signal transduction; protein transport; positive regulation of cell projection organization; adherens junction organization | 15q22.2 |
| RAB9A | small GTPase mediated signal transduction; GTP catabolic process; protein transport; positive regulation of exocytosis | Xp22.2 |
| RAB9AP5 | - | Yq11.223 |
| RAB9B | Golgi to endosome transport; small GTPase mediated signal transduction; protein transport | Xq22.1-q22.3 |
| RABAC1 | - | 19q13.2 |
| RABEP1 | endocytosis; apoptotic process; cellular membrane fusion; protein transport | 17p13.2 |
| RABEP2 | endocytosis; protein transport | 16p11.2 |
| RABEPK | receptor-mediated endocytosis; vesicle docking involved in exocytosis | 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 | cellular membrane fusion; protein transport; small GTPase mediated signal transduction | 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 | induction of apoptosis by extracellular signals; regulation of respiratory burst; localization within membrane; regulation of small GTPase mediated signal transduction; regulation of defense response to virus by virus; cell motility; negative regulation of receptor-mediated endocytosis; nerve growth factor receptor signaling pathway; intracellular signal transduction; positive regulation of Rho protein signal transduction; viral reproduction; cell adhesion; inflammatory response; cellular component movement; apoptotic process; GTP catabolic process; T cell costimulation; regulation of cell migration; platelet activation; actin filament polymerization; lamellipodium assembly; positive regulation of lamellipodium assembly; regulation of hydrogen peroxide metabolic process; ruffle organization; negative regulation of interleukin-23 production; cell-matrix adhesion; small GTPase mediated signal transduction; axon guidance; blood coagulation; response to wounding; anatomical structure morphogenesis | 7p22 |
| RAC1P3 | - | 13q14.11 |
| RAC1P4 | - | Xq26.3 |
| RAC1P5 | - | 4q25 |
| RAC1P7 | - | - |
| RAC1P8 | - | - |
| RAC2 | platelet activation; regulation of respiratory burst; regulation of small GTPase mediated signal transduction; bone resorption; actin cytoskeleton organization; cell projection assembly; regulation of hydrogen peroxide metabolic process; positive regulation of cell proliferation; blood coagulation; axon guidance; small GTPase mediated signal transduction; signal transduction; GTP catabolic process | 22q13.1 |
| RAC3 | actin cytoskeleton organization; regulation of small GTPase mediated signal transduction; neuromuscular process controlling balance; intracellular signal transduction; neuron projection development; cell projection assembly; small GTPase mediated signal transduction; GTP catabolic process | 17q25.3 |
| RACGAP1 | microtubule-based movement; neuroblast proliferation; blood coagulation; spermatogenesis; sulfate transport; embryo development; cytokinesis; small GTPase mediated signal transduction; cytokinesis, actomyosin contractile ring assembly; ion transport; cell cycle; positive regulation of cell cycle cytokinesis; regulation of attachment of spindle microtubules to kinetochore; spindle midzone assembly involved in mitosis; regulation of small GTPase mediated signal transduction; cytokinesis, initiation of separation; positive regulation of GTPase activity; cell cycle cytokinesis; cell differentiation | 12q13.12 |
| RACGAP1P | - | 12q12 |
| RAD1 | cellular response to ionizing radiation; cell cycle checkpoint; DNA damage checkpoint; DNA replication; DNA repair; response to DNA damage stimulus; meiotic prophase I | 5p13.2 |
| RAD17 | DNA repair; negative regulation of DNA replication; mitotic cell cycle checkpoint; cell cycle; response to DNA damage stimulus; regulation of phosphorylation; DNA replication; DNA damage checkpoint; DNA replication checkpoint; cell cycle checkpoint | 5q13 |
| RAD17P1 | - | 7p21 |
| RAD18 | negative regulation of DNA recombination; response to UV; DNA repair; spermatogenesis | 3p25-p24 |
| RAD21 | double-strand break repair; mitotic cell cycle; protein localization to chromatin; cell division; reciprocal meiotic recombination; mitotic metaphase/anaphase transition; chromosome segregation; apoptotic process; regulation of transcription from RNA polymerase II promoter; M phase of mitotic cell cycle; mitotic prometaphase; DNA recombination | 8q24 |
| RAD21L1 | meiotic prophase I; meiosis; chromosome segregation | 20p13 |
| RAD23A | nucleotide-excision repair; regulation of proteasomal ubiquitin-dependent protein catabolic process; interspecies interaction between organisms; positive regulation of viral genome replication | 19p13.2 |
| RAD23B | nucleotide-excision repair, DNA damage recognition; regulation of proteasomal ubiquitin-dependent protein catabolic process; spermatogenesis; response to DNA damage stimulus; nucleotide-excision repair; DNA repair; nucleotide-excision repair, DNA damage removal | 9q31.2 |
| RAD50 | DNA recombination; double-strand break repair; DNA repair; double-strand break repair via homologous recombination; regulation of mitotic recombination; positive regulation of protein autophosphorylation; telomere maintenance; reciprocal meiotic recombination; telomere maintenance via telomerase; cell cycle; positive regulation of kinase activity; meiosis; DNA duplex unwinding | 5q31 |
| RAD51 | DNA recombinase assembly; double-strand break repair via homologous recombination; DNA repair; DNA unwinding involved in replication; double-strand break repair; DNA recombination; mitotic recombination; meiosis; reciprocal meiotic recombination; positive regulation of DNA ligation; protein homooligomerization | 15q15.1 |
| RAD51-AS1 | - | 15q15.1 |
| RAD51AP1 | DNA recombination; double-strand break repair via homologous recombination; DNA repair | 12p13.2-p13.1 |
| RAD51AP2 | - | 2p24.2 |
| RAD51B | blood coagulation; reciprocal meiotic recombination; DNA recombination; DNA repair | 14q23-q24.2 |
| RAD51C | DNA recombination; blood coagulation; sister chromatid cohesion; DNA repair | 17q25.1 |
| RAD51D | DNA repair; DNA recombination; reciprocal meiotic recombination | 17q11 |
| RAD52 | reciprocal meiotic recombination; mitotic recombination; DNA recombination; double-strand break repair; DNA repair; DNA recombinase assembly; double-strand break repair via homologous recombination | 12p13-p12.2 |
| RAD54B | DNA duplex unwinding; response to ionizing radiation; response to drug; double-strand break repair via homologous recombination; DNA repair; mitotic recombination; reciprocal meiotic recombination | 8q22.1 |
| RAD54L | response to ionizing radiation; response to drug; chromosome organization; DNA recombination; DNA repair; meiosis; double-strand break repair via homologous recombination | 1p32 |
| RAD54L2 | - | 3p21.2 |
| RAD9A | DNA repair; DNA replication; response to DNA damage stimulus; positive regulation of apoptotic process; cellular response to ionizing radiation; DNA damage checkpoint; cell cycle checkpoint; DNA replication checkpoint | 11q13.1-q13.2 |
| RAD9B | cell cycle checkpoint; DNA repair; DNA replication | 12q24.11 |
| RADIL | cell adhesion; multicellular organismal development; signal transduction | 7p22.1 |
| RAE1 | cellular response to organic cyclic compound; carbohydrate metabolic process; mRNA export from nucleus; hexose transport; regulation of glucose transport; glucose transport; viral reproduction; cytokine-mediated signaling pathway; small molecule metabolic process; 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 | immune response; antigen processing and presentation | 6q25.1 |
| RAET1M | - | 6q25.1 |
| RAF1 | regulation of cell motility; negative regulation of cell proliferation; 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; wound healing; insulin receptor signaling pathway; axon guidance; synaptic transmission; Ras protein signal transduction; small GTPase mediated signal transduction; epidermal growth factor receptor signaling pathway; signal transduction; heart development; blood coagulation; cell proliferation; cytoskeleton organization; apoptotic process; protein phosphorylation; regulation of Rho protein signal transduction; response to hypoxia; activation of MAPKK activity; MAPK cascade; fibroblast growth factor receptor signaling pathway; platelet activation; negative regulation of protein complex assembly; positive regulation of peptidyl-serine phosphorylation | 3p25 |
| RAG1 | chromatin modification; V(D)J recombination; T cell differentiation in thymus; B cell differentiation; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; protein autoubiquitination; negative regulation of thymocyte apoptosis; death; histone monoubiquitination; immune response; DNA recombination; pre-B cell allelic exclusion | 11p13 |
| RAG2 | B cell homeostatic proliferation; positive regulation of organ growth; V(D)J recombination; T cell differentiation in thymus; B cell differentiation; chromatin modification; somatic diversification of immunoglobulins; DNA recombination; T cell lineage commitment; pre-B cell allelic exclusion; B cell lineage commitment | 11p13 |
| RAI1 | skeletal system development; regulation of transcription from RNA polymerase II promoter; negative regulation of multicellular organism growth | 17p11.2 |
| RAI1-AS1 | - | 17p11.2 |
| RAI14 | - | 5p13.3-p13.2 |
| RAI2 | embryo development | Xp22 |
| RALA | actin cytoskeleton reorganization; cytokinesis; chemotaxis; cell cycle; signal transduction; Ras protein signal transduction; regulation of exocytosis; interspecies interaction between organisms; nerve growth factor receptor signaling pathway; positive regulation of filopodium assembly; membrane raft localization | 7p15-p13 |
| RALB | Ras protein signal transduction; signal transduction; nerve growth factor receptor signaling pathway; small GTPase mediated signal transduction; cytokinesis; regulation of exocyst assembly; GTP catabolic process; apoptotic process; cell cycle; regulation of exocyst localization | 2q14.2 |
| RALBP1 | positive regulation of GTPase activity; positive regulation of Cdc42 GTPase activity; regulation of GTPase activity; small GTPase mediated signal transduction; signal transduction; chemotaxis; ATP catabolic process; regulation of small GTPase mediated signal transduction; transport; positive regulation of Rac GTPase activity | 18p11.3 |
| RALGAPA1 | activation of Ral GTPase activity; positive regulation of GTPase activity; regulation of small GTPase mediated signal transduction | 14q13.2 |
| RALGAPA1P | - | 9q31 |
| RALGAPA2 | regulation of small GTPase mediated signal transduction; activation of Ral GTPase activity | 20p11.22 |
| RALGAPB | activation of Ral GTPase activity; regulation of small GTPase mediated signal transduction | 20q11.23 |
| RALGDS | signal transduction; small GTPase mediated signal transduction; Ras protein signal transduction; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction | 9q34.3 |
| RALGPS1 | intracellular signal transduction; small GTPase mediated signal transduction | 9q33.3 |
| RALGPS2 | small GTPase mediated signal transduction | 1q25.2 |
| RALY | nuclear mRNA splicing, via spliceosome; RNA splicing | 20q11.21-q11.23 |
| RALY-AS1 | - | - |
| RALYL | - | 8q21.2 |
| RAMP1 | protein localization in plasma membrane; positive regulation of protein glycosylation; receptor internalization; positive regulation of cAMP biosynthetic process; protein transport; regulation of G-protein coupled receptor protein signaling pathway; intracellular protein transport; calcium ion transport; angiogenesis | 2q36-q37.1 |
| RAMP2 | sprouting angiogenesis; vasculogenesis; angiogenesis; cellular response to vascular endothelial growth factor stimulus; calcium ion transport; negative regulation of vascular permeability; positive regulation of angiogenesis; tight junction assembly; basement membrane assembly; adherens junction assembly; protein localization in plasma membrane; vascular smooth muscle cell development; receptor internalization; negative regulation of endothelial cell apoptosis; positive regulation of cAMP biosynthetic process; protein transport; positive regulation of gene expression; regulation of G-protein coupled receptor protein signaling pathway; regulation of blood pressure; heart development; signal transduction; intracellular protein transport; cAMP biosynthetic process | 17q12-q21.1 |
| RAMP2-AS1 | - | 17q21.31 |
| RAN | positive regulation of transcription, DNA-dependent; viral genome transport in host cell; cell cycle; cell division; interspecies interaction between organisms; positive regulation of protein binding; androgen receptor signaling pathway; viral infectious cycle; viral reproduction; small GTPase mediated signal transduction; signal transduction; protein export from nucleus; mitosis; mitotic spindle organization; intracellular protein transport; nucleocytoplasmic transport; RNA export from nucleus; DNA metabolic process; GTP catabolic process | 12q24.3 |
| RANBP1 | signal transduction; viral reproduction; positive regulation of mitotic centrosome separation; intracellular transport; spindle organization | 22q11.21 |
| RANBP10 | microtubule cytoskeleton organization; regulation of catalytic activity | 16q22.1 |
| RANBP17 | mRNA transport; protein import into nucleus; intracellular protein transport | 5q34 |
| RANBP2 | protein transport; regulation of glucose transport; hexose transport; protein import into nucleus; protein folding; carbohydrate metabolic process; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; viral reproduction; protein sumoylation; cytokine-mediated signaling pathway; small molecule metabolic process; intracellular transport; mRNA transport; transmembrane transport; glucose transport | 2q12.3 |
| RANBP20P | - | 14q11.2 |
| RANBP3 | protein transport; intracellular transport | 19p13.3 |
| RANBP3L | intracellular transport | 5p13.2 |
| RANBP6 | protein transport | 9p24.1 |
| RANBP9 | axon guidance; protein complex assembly; microtubule nucleation | 6p23 |
| RANGAP1 | mitotic prometaphase; negative regulation of protein export from nucleus; positive regulation of Ran GTPase activity; signal transduction; mitotic cell cycle; M phase of mitotic cell cycle | 22q13 |
| RANGRF | protein transport | 17p13.1 |
| RANP2 | - | - |
| RANP4 | - | Xq26.3 |
| RANP5 | - | 1p13.3 |
| RANP6 | - | 4q34.1 |
| RANP8 | - | - |
| RAP1A | regulation of insulin secretion; nerve growth factor receptor signaling pathway; platelet activation; small molecule metabolic process; activation of MAPKK activity; energy reserve metabolic process; GTP catabolic process; signal transduction; small GTPase mediated signal transduction; blood coagulation | 1p13.3 |
| RAP1B | signal transduction; energy reserve metabolic process; GTP catabolic process; small GTPase mediated signal transduction; blood coagulation; cell proliferation; platelet activation; small molecule metabolic process; regulation of insulin secretion; regulation of establishment of cell polarity | 12q14 |
| RAP1GAP | regulation of small GTPase mediated signal transduction; positive regulation of GTPase activity; GTP catabolic process; signal transduction; regulation of Ras GTPase activity | 1p36.1-p35 |
| RAP1GAP2 | regulation of small GTPase mediated signal transduction | 17p13.3 |
| RAP1GDS1 | positive regulation of GTPase activity | 4q23-q25 |
| RAP2A | GTP catabolic process; regulation of JNK cascade; signal transduction; small GTPase mediated signal transduction; regulation of dendrite morphogenesis; positive regulation of protein autophosphorylation; actin cytoskeleton reorganization; negative regulation of cell migration; Rap protein signal transduction; cellular protein localization; establishment of protein localization | 13q34 |
| RAP2B | signal transduction; small GTPase mediated signal transduction; negative regulation of cell migration; positive regulation of protein autophosphorylation; Rap protein signal transduction; regulation of protein tyrosine kinase activity | 3q25.2 |
| RAP2C | small GTPase mediated signal transduction; signal transduction; negative regulation of cell migration; positive regulation of protein autophosphorylation; Rap protein signal transduction; regulation of protein tyrosine kinase activity | Xq25 |
| RAP2C-AS1 | - | Xq26.2 |
| RAPGEF1 | signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; activation of MAPKK activity | 9q34.3 |
| RAPGEF2 | regulation of small GTPase mediated signal transduction; MAPK cascade; regulation of synaptic plasticity; intracellular signal transduction; positive regulation of Rap GTPase activity; cAMP-mediated signaling; small GTPase mediated signal transduction | 4q32.1 |
| RAPGEF3 | regulation of catalytic activity; platelet activation; cell proliferation; blood coagulation; signal transduction; small molecule metabolic process; regulation of protein phosphorylation; regulation of insulin secretion; regulation of small GTPase mediated signal transduction; energy reserve metabolic process | 12q13.1 |
| RAPGEF4 | energy reserve metabolic process; G-protein coupled receptor signaling pathway; regulation of protein phosphorylation; blood coagulation; regulation of small GTPase mediated signal transduction; heart development; regulation of insulin secretion; cAMP-mediated signaling; platelet activation; small molecule metabolic process; regulation of dendrite development; regulation of exocytosis; calcium ion-dependent exocytosis; positive regulation of smooth muscle cell migration; regulation of catalytic activity; negative regulation of synaptic transmission | 2q31-q32 |
| RAPGEF5 | regulation of small GTPase mediated signal transduction; nervous system development; small GTPase mediated signal transduction | 7p15.3 |
| RAPGEF6 | signal transduction; regulation of small GTPase mediated signal transduction; regulation of GTPase activity; Ras protein signal transduction | 5q31.1 |
| RAPGEFL1 | G-protein coupled receptor signaling pathway; nervous system development; small GTPase mediated signal transduction | 17q21.1 |
| RAPH1 | signal transduction; cell-matrix adhesion | 2q33 |
| RAPSN | positive regulation of neuron apoptosis; synaptic transmission, cholinergic; synaptic transmission | 11p11.2 |
| RARA | signal transduction; germ cell development; spermatogenesis; response to estradiol stimulus; positive regulation of cell proliferation; protein phosphorylation; cellular response to estrogen stimulus; gene expression; intracellular estrogen receptor signaling pathway; negative regulation of granulocyte differentiation; cellular response to retinoic acid; response to retinoic acid; negative regulation of interferon-gamma production; negative regulation of tumor necrosis factor production; positive regulation of interleukin-13 production; positive regulation of interleukin-4 production; ventricular cardiac muscle cell differentiation; positive regulation of T-helper 2 cell differentiation; positive regulation of cell cycle; negative regulation of transcription from RNA polymerase II promoter; ureteric bud development; growth plate cartilage development; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymera | 17q21 |
| RARA-AS1 | - | 17q21.2 |
| RARB | embryonic digestive tract development; retinoic acid receptor signaling pathway; gene expression; signal transduction | 3p24.2 |
| RARG | positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; regulation of cell size; response to retinoic acid; canonical Wnt receptor signaling pathway; gene expression; embryonic eye morphogenesis; negative regulation of cell proliferation; retinoic acid receptor signaling pathway; positive regulation of apoptotic process; embryonic hindlimb morphogenesis; positive regulation of programmed cell death | 12q13 |
| RARRES1 | negative regulation of cell proliferation | 3q25.32 |
| RARRES2 | retinoid metabolic process; positive regulation of macrophage chemotaxis; brown fat cell differentiation; embryonic digestive tract development; in utero embryonic development | 7q36.1 |
| RARRES3 | phospholipid metabolic process; negative regulation of cell proliferation; lipid catabolic process | 11q23 |
| RARS | arginyl-tRNA aminoacylation; gene expression; tRNA aminoacylation for protein translation | 5q35.1 |
| RARS2 | tRNA aminoacylation for protein translation; arginyl-tRNA aminoacylation; gene expression | 6q16.1 |
| RASA1 | negative regulation of cell-matrix adhesion; negative regulation of cell adhesion; signal transduction; vasculogenesis; embryo development; regulation of actin filament polymerization; positive regulation of Ras GTPase activity; regulation of cell shape; negative regulation of neuron apoptosis; positive regulation of anti-apoptosis; negative regulation of Ras protein signal transduction; intracellular signal transduction; regulation of small GTPase mediated signal transduction; regulation of RNA metabolic process; cytokinesis | 5q13.3 |
| RASA2 | signal transduction; positive regulation of Ras GTPase activity; intracellular signal transduction; negative regulation of Ras protein signal transduction; regulation of small GTPase mediated signal transduction | 3q22-q23 |
| RASA2-IT1 | - | - |
| RASA3 | negative regulation of Ras protein signal transduction; regulation of small GTPase mediated signal transduction; positive regulation of GTPase activity; intracellular signal transduction; positive regulation of Ras GTPase activity; signal transduction | 13q34 |
| RASA3-IT1 | - | - |
| RASA4 | negative regulation of Ras protein signal transduction; positive regulation of GTPase activity; regulation of small GTPase mediated signal transduction; intracellular signal transduction; positive regulation of Ras GTPase activity | 7q22 |
| RASA4CP | - | 7p13 |
| RASAL1 | positive regulation of Ras GTPase activity; signal transduction; regulation of small GTPase mediated signal transduction; negative regulation of Ras protein signal transduction; intracellular signal transduction | 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 | signal transduction; regulation of small GTPase mediated signal transduction; negative regulation of Ras protein signal transduction; positive regulation of Ras GTPase activity | 19p13.12 |
| RASD1 | GTP catabolic process; signal transduction; G-protein coupled receptor signaling pathway; nitric oxide mediated signal transduction; negative regulation of transcription, DNA-dependent; small GTPase mediated signal transduction | 17p11.2 |
| RASD2 | synaptic transmission, dopaminergic; GTP catabolic process; regulation of cAMP-mediated signaling; signal transduction; small GTPase mediated signal transduction; locomotory behavior; negative regulation of protein ubiquitination; positive regulation of protein sumoylation; positive regulation of protein kinase B signaling cascade | 22q13.1 |
| RASEF | protein transport; small GTPase mediated signal transduction | 9q21.32 |
| RASGEF1A | regulation of small GTPase mediated signal transduction; cell migration | 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 synaptic plasticity; nerve growth factor receptor signaling pathway; positive regulation of Ras protein signal transduction; regulation of Ras protein signal transduction; regulation of Rho protein signal transduction; regulation of Rac protein signal transduction; regulation of neuronal synaptic plasticity; 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; regulation of small GTPase mediated signal transduction | 15q24.2 |
| RASGRF2 | regulation of Rho protein signal transduction; small GTPase mediated signal transduction; synaptic transmission; induction of apoptosis by extracellular signals; apoptotic process; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction | 5q13 |
| RASGRP1 | platelet activation; Ras protein signal transduction; blood coagulation; regulation of small GTPase mediated signal transduction; signal transduction; cell differentiation | 15q14 |
| RASGRP2 | regulation of small GTPase mediated signal transduction; platelet activation; blood coagulation; Ras protein signal transduction; regulation of cell growth; signal transduction | 11q13 |
| RASGRP3 | Ras protein signal transduction; small GTPase mediated signal transduction; MAPK cascade; positive regulation of Rap GTPase activity; regulation of GTPase activity; regulation of small GTPase mediated signal transduction | 2p25.1-p24.1 |
| RASGRP4 | transmembrane receptor protein tyrosine kinase signaling pathway; regulation of small GTPase mediated signal transduction; positive regulation of Ras protein signal transduction; myeloid cell differentiation; response to extracellular stimulus; cell proliferation; regulation of G-protein coupled receptor protein signaling pathway; activation of phospholipase C activity; cell growth | 19q13.1 |
| RASIP1 | branching morphogenesis of a tube; regulation of Rho GTPase activity; angiogenesis; vasculogenesis; signal transduction | 19q13.33 |
| RASL10A | GTP catabolic process; signal transduction; small GTPase mediated signal transduction | 22q12.2 |
| RASL10B | signal transduction; small GTPase mediated signal transduction | 17q12 |
| RASL11A | positive regulation of transcription from RNA polymerase I promoter; small GTPase mediated signal transduction; signal transduction; regulation of transcription, DNA-dependent | 13q12.2 |
| RASL11B | small GTPase mediated signal transduction; signal transduction | 4q12 |
| RASL12 | signal transduction; small GTPase mediated signal transduction | 15q11.2-q22.33 |
| RASSF1 | Ras protein signal transduction; intracellular signal transduction; positive regulation of protein ubiquitination; cell cycle arrest; protein stabilization; negative regulation of cell cycle arrest; response to DNA damage stimulus; cell cycle | 3p21.3 |
| RASSF1-AS1 | - | 3p21.3 |
| RASSF10 | signal transduction | 11p15.2 |
| RASSF2 | signal transduction; cell cycle | 20p13 |
| RASSF3 | signal transduction | 12q14.2 |
| RASSF4 | signal transduction; cell cycle | 10q11.21 |
| RASSF5 | intracellular signal transduction; apoptotic process | 1q32.1 |
| RASSF6 | regulation of apoptotic process; signal transduction | 4q13.3 |
| RASSF7 | regulation of transcription, DNA-dependent; signal transduction | 11p15.5 |
| RASSF8 | signal transduction | 12p12.3 |
| RASSF8-AS1 | - | - |
| RASSF9 | signal transduction; endosome transport; protein targeting | 12q21.31 |
| RAVER1 | - | 19p13.2 |
| RAVER2 | - | 1p31.3 |
| RAX | camera-type eye development; hypothalamus development; pattern specification process; brain development; visual perception; limb development | 18q21.32 |
| RAX2 | response to stimulus; visual perception | 19p13.3 |
| RB1 | negative regulation of S phase of mitotic cell cycle; negative regulation of smoothened signaling pathway; positive regulation of macrophage differentiation; positive regulation of mitotic metaphase/anaphase transition; enucleate erythrocyte differentiation; myoblast differentiation; interspecies interaction between organisms; regulation of lipid kinase activity; negative regulation of sequence-specific DNA binding transcription factor activity; regulation of centromere complex assembly; 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; protein localization to chromosome, centromeric region; regulation of cohesin localization to chromatin; negative regulation of transcri | 13q14.2 |
| RB1CC1 | negative regulation of apoptotic process; regulation of transcription, DNA-dependent; cell cycle; positive regulation of cell size; JNK cascade; heart development; regulation of autophagy; positive regulation of protein phosphorylation; liver development; autophagic vacuole assembly | 8q11 |
| RBAK | negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 7p22.1 |
| RBAKDN | - | 7p22.1 |
| RBBP4 | mitotic cell cycle; DNA replication; nucleosome assembly; chromatin remodeling; regulation of transcription, DNA-dependent; negative regulation of cell proliferation; chromatin assembly; CenH3-containing nucleosome assembly at centromere | 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 | negative regulation of transcription from RNA polymerase II promoter; DNA replication; nucleosome assembly; regulation of transcription, DNA-dependent; multicellular organismal development; cell proliferation; chromatin modification; negative regulation of cell growth; CenH3-containing nucleosome assembly at centromere; cellular heat acclimation | Xp22.2 |
| RBBP8 | cell cycle checkpoint; G1/S transition of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; blastocyst hatching; DNA repair; regulation of transcription from RNA polymerase II promoter; meiosis; DNA double-strand break processing involved in repair via single-strand annealing | 18q11.2 |
| RBBP8NL | - | 20q13.33 |
| RBBP9 | regulation of cell proliferation | 20p11.2 |
| RBCK1 | T cell receptor signaling pathway; proteasomal ubiquitin-dependent protein catabolic process; positive regulation of apoptotic process; positive regulation of NF-kappaB import into nucleus; negative regulation of NF-kappaB transcription factor activity; protein polyubiquitination; interspecies interaction between organisms; protein linear polyubiquitination; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of NF-kappaB transcription factor activity | 20p13 |
| RBFA | rRNA processing | 18q23 |
| RBFADN | - | - |
| RBFOX1 | mRNA processing; RNA splicing; RNA transport | 16p13.3 |
| RBFOX2 | regulation of alternative nuclear mRNA splicing, via spliceosome; negative regulation of transcription, DNA-dependent; intracellular estrogen receptor signaling pathway; RNA metabolic process; mRNA processing; RNA splicing; regulation of definitive erythrocyte differentiation; regulation of cell proliferation | 22q13.1 |
| RBFOX3 | RNA splicing; mRNA processing | 17q25.3 |
| RBKS | D-ribose metabolic process; carbohydrate metabolic process | 2p23.3 |
| RBL1 | chromatin modification; G1 phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; mitotic cell cycle; regulation of transcription, DNA-dependent; regulation of lipid kinase activity; interspecies interaction between organisms; regulation of cell cycle | 20q11.2 |
| RBL2 | regulation of cell cycle; regulation of lipid kinase activity; chromatin modification; regulation of transcription, DNA-dependent; mitotic cell cycle; G1 phase of mitotic cell cycle | 16q12.2 |
| RBM10 | mRNA processing; RNA splicing | Xp11.23 |
| RBM11 | - | 21q11 |
| RBM12 | - | 20q11.21 |
| RBM12B | - | 8q22.1 |
| RBM12B-AS1 | - | 8q22.1 |
| RBM14 | glucocorticoid receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; DNA replication; intracellular estrogen receptor signaling pathway; histone deacetylation; response to hormone stimulus; regulation of transcription, DNA-dependent; DNA recombination; DNA repair | 11q13.2 |
| RBM14-RBM4 | - | 11q |
| RBM15 | negative regulation of transcription, DNA-dependent; interspecies interaction between organisms; spleen development; ventricular septum morphogenesis; placenta blood vessel development; negative regulation of myeloid cell differentiation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription of Notch receptor target; patterning of blood vessels | 1p13 |
| RBM15B | mRNA processing; negative regulation of transcription, DNA-dependent; interspecies interaction between organisms; RNA splicing; nucleocytoplasmic transport; regulation of transcription, DNA-dependent; regulation of alternative nuclear mRNA splicing, via spliceosome | 3p21.2 |
| RBM17 | RNA splicing; mRNA processing | 10p15.1 |
| RBM18 | - | 9q33.2 |
| RBM19 | multicellular organismal development; positive regulation of embryonic development | 12q24.21 |
| RBM20 | - | 10q25.2 |
| RBM22 | positive regulation of RNA splicing; positive regulation of intracellular protein transport; nuclear mRNA cis splicing, via spliceosome; cellular response to stress; nuclear mRNA splicing, via spliceosome; protein import into nucleus, translocation | 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; mRNA processing; regulation of alternative nuclear mRNA splicing, via spliceosome | 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 | positive regulation of translation; production of miRNAs involved in gene silencing by miRNA; response to cold; regulation of translation; RNA processing | Xp11.2 |
| RBM33 | - | 7q36.3 |
| RBM34 | - | 1q42.3 |
| RBM38 | cell cycle; mRNA processing; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; 3'-UTR-mediated mRNA stabilization; cell differentiation; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; cell cycle arrest; negative regulation of cell proliferation; regulation of myotube differentiation; regulation of RNA splicing | 20q13.31 |
| RBM39 | RNA processing; regulation of transcription, DNA-dependent; RNA splicing; mRNA processing | 20q11.22 |
| RBM4 | gene silencing by RNA; entrainment of circadian clock by photoperiod; negative regulation of translational initiation; regulation of nucleocytoplasmic transport; 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; cell differentiation; negative regulation of translation; RNA splicing; mRNA processing; RNA processing; regulation of alternative nuclear mRNA splicing, via spliceosome; stress-activated MAPK cascade; positive regulation of muscle cell differentiation | 11q13 |
| RBM41 | - | Xq22.3 |
| RBM42 | - | 19q13.12 |
| RBM43 | - | 2q23.3 |
| RBM43P1 | - | 3p14.1 |
| RBM44 | - | 2q37.3 |
| RBM45 | multicellular organismal development; nervous system development; cell differentiation | 2q31.2 |
| RBM46 | - | 4q32.1 |
| RBM47 | - | 4p14 |
| RBM48 | - | 7q21.2 |
| RBM4B | circadian rhythm; circadian regulation of gene expression; RNA splicing; mRNA processing; entrainment of circadian clock by photoperiod; regulation of translation | 11q13 |
| RBM5 | regulation of alternative nuclear mRNA splicing, via spliceosome; negative regulation of cell proliferation; spliceosome assembly; RNA splicing; nuclear mRNA splicing, via spliceosome; RNA processing; positive regulation of apoptotic process; gene expression | 3p21.3 |
| RBM6 | RNA processing | 3p21.3 |
| RBM7 | meiosis | 11q23.1-q23.2 |
| RBM8A | mRNA metabolic process; transcription from RNA polymerase II promoter; RNA splicing; transport; mRNA 3'-end processing; RNA metabolic process; nuclear mRNA splicing, via spliceosome; gene expression; termination of RNA polymerase II transcription; mRNA export from nucleus; regulation of translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 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 | membrane protein ectodomain proteolysis; nuclear mRNA splicing, via spliceosome; RNA splicing; positive regulation of nuclear mRNA splicing, via spliceosome; protein homooligomerization; regulation of alternative nuclear mRNA splicing, via spliceosome; cellular response to interleukin-1; transcription from RNA polymerase II promoter; negative regulation of nuclear mRNA splicing, via spliceosome; gene expression; positive regulation of transcription from RNA polymerase II promoter | 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 | retinoic acid metabolic process; retinol metabolic process; response to vitamin A; regulation of granulocyte differentiation; vitamin A metabolic process | 3q23 |
| RBP2 | epidermis development; steroid metabolic process; vitamin A metabolic process; small molecule metabolic process; retinoid metabolic process | 3q23 |
| RBP3 | visual perception; transport; lipid metabolic process; proteolysis | 10q11.2 |
| RBP4 | positive regulation of immunoglobulin secretion; transmembrane transport; cardiac muscle tissue development; retina development in camera-type eye; negative regulation of cardiac muscle cell proliferation; embryonic retina morphogenesis in camera-type eye; uterus development; vagina development; urinary bladder development; heart trabecula formation; response to stimulus; heart development; male gonad development; embryo development; maintenance of gastrointestinal epithelium; lung development; detection of light stimulus involved in visual perception; positive regulation of insulin secretion; response to retinoic acid; response to insulin stimulus; spermatogenesis; gluconeogenesis; eye development; retinol transport; retinol metabolic process; retinal metabolic process; glucose homeostasis; response to ethanol; embryonic organ morphogenesis; embryonic skeletal system development; female genitalia morphogenesis | 10q23-q24 |
| RBP5 | transport | 12p13.31 |
| RBP7 | - | 1p36.22 |
| RBPJ | DNA recombination; positive regulation of transcription of Notch receptor target; gene expression; negative regulation of transcription, DNA-dependent; Notch signaling pathway; regulation of transcription, DNA-dependent | 4p15.2 |
| RBPJL | regulation of transcription, DNA-dependent; signal transduction | 20q12-q13.1 |
| RBPJP6 | - | 9p11.2 |
| RBPMS | positive regulation of SMAD protein import into nucleus; positive regulation of pathway-restricted SMAD protein phosphorylation; RNA processing; regulation of transcription, DNA-dependent | 8p12 |
| RBPMS-AS1 | - | 8p12 |
| RBPMS2 | - | 15q22.31 |
| RBSG2 | - | - |
| RBSN | blood coagulation; endosome transport; protein transport | 3p25.1 |
| RBX1 | proteasomal ubiquitin-dependent protein catabolic process; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; interspecies interaction between organisms; DNA repair; viral reproduction; protein neddylation; protein ubiquitination | 22q13.2 |
| RC3H1 | regulation of T cell receptor signaling pathway; regulation of germinal center formation; negative regulation of B cell proliferation; negative regulation of activated T cell proliferation; negative regulation of T-helper cell differentiation; regulation of mRNA stability; nuclear-transcribed mRNA catabolic process; cytoplasmic mRNA processing body assembly; protein ubiquitination; posttranscriptional regulation of gene expression; negative regulation of germinal center formation | 1q25.1 |
| RC3H2 | - | 9q34 |
| RCAN1 | response to mechanical stimulus; signal transduction; response to estrogen stimulus; regulation of transcription, DNA-dependent; central nervous system development; blood circulation; calcium-mediated signaling; regulation of phosphoprotein phosphatase activity; skeletal muscle fiber development; negative regulation of smooth muscle cell differentiation | 21q22.12 |
| RCAN2 | calcium-mediated signaling; central nervous system development | 6p12.3 |
| RCAN3 | calcium-mediated signaling; anatomical structure morphogenesis | 1p35.3-p33 |
| RCBTB1 | regulation of transcription, DNA-dependent; cell cycle; chromatin modification | 13q14 |
| RCBTB2 | - | 13q14.3 |
| RCC1 | regulation of S phase of mitotic cell cycle; viral reproduction; spindle assembly; cell division; regulation of mitosis; chromosome segregation; mitotic spindle organization; cell cycle; G1/S transition of mitotic cell cycle | 1p36.1 |
| RCC2 | mitotic prometaphase; mitotic cell cycle; M phase of 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 proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein autoubiquitination; positive regulation of protein ubiquitination; protein ubiquitination | 4q21.1 |
| RCL1 | RNA processing; ribosome biogenesis | 9p24.1-p23 |
| RCN1 | camera-type eye development; in utero embryonic development | 11p13 |
| RCN1P1 | - | 6q14.3 |
| RCN1P2 | - | 13q14.13 |
| RCN2 | - | 15q23 |
| RCN3 | - | 19q13.33 |
| RCOR1 | positive regulation of megakaryocyte differentiation; histone H4 deacetylation; erythrocyte differentiation; chromatin modification; blood coagulation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; interspecies interaction between organisms | 14q32.31 |
| RCOR2 | negative regulation of transcription, DNA-dependent | 11q13.1 |
| RCOR3 | regulation of transcription, DNA-dependent | 1q32.2 |
| RCSD1 | cellular hyperosmotic response; skeletal muscle contraction | 1q24.2 |
| RD3L | - | 14q32.33 |
| RDH10 | neural crest cell development; embryonic camera-type eye development; in utero embryonic development; retinoic acid biosynthetic process; organ morphogenesis; retinol metabolic process; bud elongation involved in lung branching; primary lung bud formation; metanephros development; embryonic viscerocranium morphogenesis; gonad development; nose development; retinal metabolic process; visual perception; ear development; embryonic forelimb morphogenesis | 8q21.11 |
| RDH11 | small molecule metabolic process; retinol metabolic process; steroid metabolic process; retinoid metabolic process | 14q24.1 |
| RDH12 | response to stimulus; visual perception; retinol metabolic process; photoreceptor cell maintenance | 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 repair; DNA recombination | 17q11.2 |
| RDX | microvillus assembly; apical protein localization; actin filament capping | 11q23 |
| REC114 | meiosis; DNA recombination | 15q22 |
| REC8 | sister chromatid cohesion; spermatid development; reciprocal meiotic recombination; synapsis; meiosis; male meiosis I; spermatogenesis; oocyte maturation | 14q11.2-q12 |
| RECK | extracellular matrix organization; negative regulation of endopeptidase activity; blood vessel maturation | 9p13.3 |
| RECQL | DNA replication; DNA duplex unwinding; DNA strand renaturation; DNA recombination; DNA repair | 12p12 |
| RECQL4 | DNA recombination; DNA duplex unwinding; multicellular organismal development; DNA repair; DNA replication; DNA strand renaturation | 8q24.3 |
| RECQL5 | DNA duplex unwinding; DNA recombination; DNA repair; DNA metabolic process | 17q25 |
| REEP1 | cell death; protein insertion into membrane | 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 | cytokine production; 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 | 2p13-p12 |
| RELA | interspecies interaction between organisms; response to cobalamin; positive regulation of interleukin-12 biosynthetic process; innate immune response; negative regulation of transcription, DNA-dependent; 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; membrane protein intracellular domain proteolysis; cytokine-mediated signaling pathway; response to morphine; response to amino acid stimulus; positive regulation of chondrocyte differentiation; response to muramyl dipeptide; response to progesterone stimulus; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of apoptotic process; response to hydrogen peroxide; response to drug; | 11q13 |
| RELB | T-helper 1 cell differentiation; myeloid dendritic cell differentiation; antigen processing and presentation; positive regulation of gene expression; regulation of transcription, DNA-dependent | 19q13.32 |
| RELL1 | - | 4p14 |
| RELL2 | positive regulation of cell-substrate adhesion | 5q31.3 |
| RELN | ventral spinal cord development; positive regulation of peptidyl-tyrosine phosphorylation; cell morphogenesis involved in differentiation; neuron migration; proteolysis; cell adhesion; multicellular organismal development; axon guidance; central nervous system development; brain development; locomotory behavior; dendrite development; glial cell differentiation; positive regulation of small GTPase mediated signal transduction; response to pain; positive regulation of protein kinase activity; thyroid hormone metabolic process; reelin-mediated signaling pathway; cerebral cortex tangential migration; spinal cord patterning; peptidyl-tyrosine phosphorylation | 7q22 |
| RELT | - | 11q13.4 |
| REM1 | signal transduction; small GTPase mediated signal transduction | 20q11.21 |
| REM2 | small GTPase mediated signal transduction; regulation of transcription, DNA-dependent; signal transduction | 14q11.2 |
| REN | kidney development; mesonephros development; angiotensin maturation; regulation of MAPK cascade; renin-angiotensin regulation of aldosterone production; proteolysis; response to stress; regulation of blood pressure; male gonad development; hormone-mediated signaling pathway; response to drug; drinking behavior; cell maturation; response to cAMP; response to cGMP | 1q32 |
| RENBP | mannose metabolic process; N-acetylglucosamine metabolic process; regulation of blood pressure; negative regulation of endopeptidase activity | 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 | multicellular organismal development; NLS-bearing substrate import into nucleus; chromatin remodeling | 1p36.23 |
| RERG | response to hormone stimulus; GTP catabolic process; negative regulation of cell growth; signal transduction; negative regulation of cell proliferation; small GTPase mediated signal transduction | 12p12.3 |
| RERG-AS1 | - | - |
| RERG-IT1 | - | - |
| RERGL | small GTPase mediated signal transduction; signal transduction | 12p12.3 |
| REST | negative regulation of calcium ion-dependent exocytosis; cardiac muscle cell myoblast differentiation; negative regulation of insulin secretion; negative regulation of neurogenesis; calcium ion transmembrane transport; histone H4 deacetylation; cellular response to electrical stimulus; cellular response to glucocorticoid stimulus; negative regulation of cortisol biosynthetic process; negative regulation of dense core granule biogenesis; negative regulation of mesenchymal stem cell differentiation; negative regulation of amniotic stem cell differentiation; negative regulation of transcription, DNA-dependent; 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 cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of apoptotic proc | 4q12 |
| RET | 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; neural crest cell migration; positive regulation of neuron projection development; MAPK cascade; ureteric bud development; embryonic epithelial tube formation; protein phosphorylation; homophilic cell adhesion; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; nervous system development; posterior midgut development; regulation of cell adhesion; neuron cell-cell adhesion | 10q11.2 |
| RETN | response to insulin stimulus; fat cell differentiation | 19p13.2 |
| RETSAT | retinol metabolic process; oxidation-reduction process | 2p11.2 |
| REV1 | error-prone translesion synthesis; DNA replication; DNA repair; response to UV | 2q11.1-q11.2 |
| REV3L | DNA-dependent DNA replication; translesion synthesis; DNA repair; nucleobase-containing compound metabolic process | 6q21 |
| REXO1L4P | - | 8q21.2 |
| REXO2 | nucleotide metabolic process; nucleobase-containing compound metabolic process | 11q23.2 |
| REXO4 | regulation of transcription, DNA-dependent | 9q34.2 |
| RFC1 | transcription-coupled nucleotide-excision repair; positive regulation of catalytic activity; telomere maintenance via semi-conservative replication; telomere maintenance via telomerase; regulation of transcription, DNA-dependent; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; DNA repair; DNA strand elongation involved in DNA replication; DNA-dependent DNA replication; telomere maintenance; telomere maintenance via recombination; mitotic cell cycle; S phase of mitotic cell cycle | 4p14-p13 |
| RFC2 | mitotic cell cycle; 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; telomere maintenance via recombination; S phase of mitotic cell cycle; cell cycle checkpoint | 7q11.23 |
| RFC3 | response to organophosphorus; DNA strand elongation involved in DNA replication; DNA repair; cell cycle checkpoint; telomere maintenance via semi-conservative replication; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA replication; ATP catabolic process; DNA synthesis involved in DNA repair; telomere maintenance; telomere maintenance via recombination; mitotic cell cycle; S phase of mitotic cell cycle | 13q13.2 |
| RFC4 | nucleotide-excision repair; nucleotide-excision repair, DNA gap filling; telomere maintenance via semi-conservative replication; phosphatidylinositol-mediated signaling; cell cycle checkpoint; mitotic cell cycle; transcription-coupled nucleotide-excision repair; S phase of mitotic cell cycle; telomere maintenance via recombination; DNA repair; DNA strand elongation involved in DNA replication; telomere maintenance; DNA replication | 3q27 |
| RFC5 | telomere maintenance; cell cycle checkpoint; S phase of mitotic cell cycle; mitotic cell cycle; telomere maintenance via recombination; nucleotide-excision repair; DNA replication; DNA strand elongation involved in DNA replication; DNA repair; transcription-coupled 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 | riboflavin metabolic process; small molecule metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; riboflavin biosynthetic process | 9q21.13 |
| RFKP1 | - | 1q |
| RFNG | cell differentiation; pattern specification process; nervous system development; organ morphogenesis | 17q25 |
| RFPL1S | - | 22q12 |
| RFPL2 | - | 22q12.3 |
| RFPL3S | - | 22q12.3 |
| RFPL4AL1 | - | 19q13.42 |
| RFPL4AP1 | - | 19q13.42 |
| RFPL4B | - | 6q21 |
| RFT1 | protein N-linked glycosylation via asparagine; post-translational protein modification; dolichol-linked oligosaccharide biosynthetic process; cellular protein metabolic process; carbohydrate transport; transport | 3p21.1 |
| RFTN1 | - | 3p24.3 |
| RFTN1P1 | - | Yp11.2 |
| RFTN2 | - | 2q33.1 |
| RFWD2 | cell cycle checkpoint; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | 1q25.1-q25.2 |
| RFWD2P1 | - | 18p11.23 |
| RFWD3 | mitotic cell cycle G1/S transition DNA damage checkpoint; protein ubiquitination; response to ionizing radiation; DNA repair | 16q23.1 |
| RFX1 | regulation of transcription, DNA-dependent; immune response | 19p13.1 |
| RFX2 | regulation of transcription, DNA-dependent | 19p13.3 |
| RFX3 | ciliary cell motility; positive regulation of type B pancreatic cell development; epithelial cilium movement involved in determination of left/right asymmetry; regulation of insulin secretion; type B pancreatic cell maturation; regulation of transcription, DNA-dependent; multicellular organismal development; cell differentiation; endocrine pancreas development; cilium assembly; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; cell maturation | 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; type B pancreatic cell differentiation; pancreatic A cell differentiation; pancreatic E cell differentiation; regulation of insulin secretion; positive regulation of transcription, DNA-dependent; glucose homeostasis; endocrine pancreas development; pancreatic D cell differentiation | 6q22.1 |
| RFX7 | regulation of transcription, DNA-dependent | 15q21.3 |
| RFX8 | regulation of transcription, DNA-dependent | 2q11.2 |
| RFXANK | Ras protein signal transduction; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 19p12 |
| RFXAP | regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 13q14 |
| RGAG1 | - | Xq23 |
| RGAG4 | - | Xq13.1 |
| RGCC | regulation of cyclin-dependent protein kinase activity; cell cycle | 13q14.11 |
| RGL1 | cellular lipid metabolic process; small molecule metabolic process; small GTPase mediated signal transduction; signal transduction; 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 | regulation of small GTPase mediated signal transduction; signal transduction | 19p13.2 |
| RGL4 | small GTPase mediated signal transduction | 22q11.23 |
| RGMA | axon guidance | 15q26.1 |
| RGMB | cell adhesion; signal transduction; axon guidance; BMP signaling pathway; positive regulation of transcription, DNA-dependent | 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 | signal transduction; positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway; negative regulation of signal transduction; inhibition of adenylate cyclase activity by G-protein signaling pathway; immune response | 1q31 |
| RGS10 | negative regulation of signal transduction; termination of G-protein coupled receptor signaling pathway; positive regulation of GTPase activity | 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; termination of G-protein coupled receptor signaling pathway; positive regulation of GTPase activity | 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 | termination of G-protein coupled receptor signaling pathway; positive regulation of GTPase activity | 1q31.2 |
| RGS14 | cell division; negative regulation of ERK1 and ERK2 cascade; regulation of G-protein coupled receptor protein signaling pathway; long-term synaptic potentiation; mitosis; visual learning; long-term memory; learning; negative regulation of MAP kinase activity; termination of G-protein coupled receptor signaling pathway; negative regulation of signal transduction; negative regulation of synaptic plasticity; zygote asymmetric cell division; spindle organization; response to oxidative stress; cell cycle; chromosome segregation; positive regulation of GTPase activity; regulation of DNA-dependent transcription in response to stress; positive regulation of neurogenesis; nucleocytoplasmic transport; platelet-derived growth factor receptor signaling pathway | 5q35.3 |
| RGS16 | termination of G-protein coupled receptor signaling pathway; negative regulation of signal transduction; regulation of G-protein coupled receptor protein signaling pathway; positive regulation of GTPase activity; visual perception | 1q25-q31 |
| RGS17 | termination of G-protein coupled receptor signaling pathway; positive regulation of GTPase activity; negative regulation of signal transduction | 6q25.3 |
| RGS17P1 | - | 13q14.11 |
| RGS18 | negative regulation of signal transduction; positive regulation of GTPase activity; regulation of G-protein coupled receptor protein signaling pathway; termination of G-protein coupled receptor signaling pathway | 1q31.2 |
| RGS19 | G-protein coupled receptor signaling pathway; autophagy; negative regulation of signal transduction; termination of G-protein coupled receptor signaling pathway; positive regulation of GTPase activity; small GTPase mediated signal transduction | 20q13.33 |
| RGS2 | termination of G-protein coupled receptor signaling pathway; regulation of adrenergic receptor signaling pathway; positive regulation of cardiac muscle contraction; relaxation of cardiac muscle; brown fat cell differentiation; negative regulation of G-protein coupled receptor protein signaling pathway; cell cycle; spermatogenesis; regulation of G-protein coupled receptor protein signaling pathway; negative regulation of phospholipase activity; positive regulation of GTPase activity; negative regulation of MAP kinase activity; negative regulation of cardiac muscle hypertrophy; regulation of translation | 1q31 |
| RGS20 | termination of G-protein coupled receptor signaling pathway; negative regulation of signal transduction; regulation of G-protein coupled receptor protein signaling pathway; positive regulation of GTPase activity | 8q11.23 |
| RGS22 | negative regulation of signal transduction; termination of G-protein coupled receptor signaling pathway; positive regulation of GTPase activity | 8q22.2 |
| RGS3 | 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; inactivation of MAPK activity | 9q32 |
| RGS4 | inactivation of MAPK activity; negative regulation of signal transduction; termination of G-protein coupled receptor signaling pathway; positive regulation of GTPase activity; regulation of G-protein coupled receptor protein signaling pathway | 1q23.3 |
| RGS5 | signal transduction; 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 | 1q23.1 |
| RGS6 | negative regulation of signal transduction; regulation of G-protein coupled receptor protein signaling pathway; termination of G-protein coupled receptor signaling pathway; positive regulation of neuron differentiation; positive regulation of GTPase activity; G-protein coupled receptor signaling pathway; intracellular signal transduction | 14q24.3 |
| RGS7 | 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 | 1q43|1q23.1 |
| RGS7BP | negative regulation of signal transduction; G-protein coupled receptor signaling pathway | 5q12.3 |
| RGS8 | positive regulation of GTPase activity; termination of G-protein coupled receptor signaling pathway; negative regulation of signal transduction | 1q25 |
| RGS9 | negative regulation of signal transduction; intracellular signal transduction; termination of G-protein coupled receptor signaling pathway; positive regulation of GTPase activity; response to estrogen stimulus; response to stimulus; regulation of G-protein coupled receptor protein signaling pathway; visual perception; nervous system development; dopamine receptor signaling pathway | 17q24 |
| RGS9BP | response to stimulus; detection of light stimulus involved in visual perception; negative regulation of signal transduction | 19q13.11 |
| RGSL1 | termination of G-protein coupled receptor signaling pathway | 1q25 |
| RHAG | cellular ion homeostasis; ammonium transmembrane transport; transmembrane transport; ammonium transport; carbon dioxide transport | 6p12.3 |
| RHBDD1 | proteolysis | 2q36.3 |
| RHBDD2 | - | 7q11.23 |
| RHBDD3 | - | 22q12.2 |
| RHBDF1 | cell proliferation; proteolysis; regulation of protein secretion; protein transport; negative regulation of protein secretion; regulation of proteasomal protein catabolic process; regulation of epidermal growth factor receptor signaling pathway; cell migration | 16p13.3 |
| RHBDF1P1 | - | 3p25.1 |
| RHBDF2 | negative regulation of protein secretion; proteolysis; protein transport | 17q25.1 |
| RHBDL1 | proteolysis; signal transduction | 16p13.3 |
| RHBDL2 | proteolysis | 1p34.3 |
| RHBDL3 | proteolysis | 17q11.2 |
| RHBG | ammonium transmembrane transport; transepithelial ammonium transport; transmembrane transport; ammonium transport | 1q21.3 |
| RHCG | homeostatic process; cellular ion homeostasis; regulation of pH; ammonium transport; amine transport; transmembrane transport; transepithelial ammonium transport; ammonium transmembrane transport; epithelial cell differentiation | 15q25 |
| RHD | - | 1p36.11 |
| RHEB | small GTPase mediated signal transduction; positive regulation of TOR signaling cascade; insulin receptor signaling pathway; signal transduction; cell cycle arrest; GTP catabolic process | 7q36 |
| RHEBL1 | positive regulation of NF-kappaB transcription factor activity; signal transduction; TOR signaling cascade; small GTPase mediated signal transduction | 12q13.12 |
| RHEBP1 | - | 10q11 |
| RHNO1 | - | 12p13.33 |
| RHOA | apical junction assembly; phosphatidylinositol-mediated signaling; 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; androgen receptor signaling pathway; regulation of cell migration; platelet activation; cell differentiation; actin cytoskeleton organization; blood coagulation; skeletal muscle tissue development; axon guidance; Rho protein signal transduction; small GTPase mediated signal transduction; cell-matrix adhesion; cell adhesion; cell cycle; regulation of transcription from RNA polymerase II promoter; GTP catabolic process; cell morphogenesis; regulation of axonogenesis; positive regulation of cell cycle cytokinesis; spindle assembly involved in mitosis; trabecula morphogenesis; positive regulation of stress fiber assembly; cell division; regulation of small GTPase mediated signal transduction; positive regulation of axo | 3p21.3 |
| RHOB | regulation of small GTPase mediated signal transduction; negative regulation of cell cycle; cellular response to hydrogen peroxide; cellular response to ionizing radiation; small GTPase mediated signal transduction; apoptotic process; endosome to lysosome transport; protein transport; cell differentiation; platelet activation; cell cycle cytokinesis; blood coagulation; positive regulation of apoptotic process; positive regulation of angiogenesis; axon guidance; multicellular organismal development; Rho protein signal transduction; cell adhesion; transformed cell apoptosis; GTP catabolic process | 2p24 |
| RHOBTB1 | small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 10q21.2 |
| RHOBTB2 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction | 8p21.3 |
| RHOBTB3 | ATP catabolic process; transport; small GTPase mediated signal transduction; retrograde transport, endosome to Golgi | 5q15 |
| RHOC | positive regulation of actin filament polymerization; positive regulation of cell migration; positive regulation of cell growth; negative regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of I-kappaB kinase/NF-kappaB cascade; response to ethanol; negative regulation of neuron differentiation; positive regulation of translation; positive regulation of cell adhesion; response to glucose stimulus; response to mechanical stimulus; response to drug; stress-activated protein kinase signaling cascade; negative regulation of calcium ion transport via voltage-gated calcium channel activity; response to glucocorticoid stimulus; positive regulation of neuron apoptosis; regulation of small GTPase mediated signal transduction; regulation of dendrite development; neuron projection morphogenesis; positive regulation of vasoconstriction; cell cycle cytokinesis; regulation of actin polymerization or depolymerization; apical junction assembly; positive regulation of cysteine-type endopeptidase activity invol | 1p13.1 |
| RHOD | GTP catabolic process; small GTPase mediated signal transduction; Rho protein signal transduction; regulation of small GTPase mediated signal transduction | 11q14.3 |
| RHOF | regulation of small GTPase mediated signal transduction; actin filament organization; GTP catabolic process; small GTPase mediated signal transduction | 12q24.31 |
| RHOG | platelet activation; positive regulation of cell proliferation; blood coagulation; axon guidance; Rho protein signal transduction; activation of Rac GTPase activity; small GTPase mediated signal transduction; positive regulation of transcription, DNA-dependent; regulation of small GTPase mediated signal transduction; cell chemotaxis; positive regulation of establishment of protein localization in plasma membrane; actin cytoskeleton organization; Rac protein signal transduction; GTP catabolic process | 11p15.5-p15.4 |
| RHOH | small GTPase mediated signal transduction; negative regulation of I-kappaB kinase/NF-kappaB cascade; T cell differentiation; negative regulation of phosphorylation; regulation of transcription, DNA-dependent; regulation of small GTPase mediated signal transduction | 4p13 |
| RHOJ | small GTPase mediated signal transduction; GTP catabolic process; Rho protein signal transduction; regulation of cell shape; actin cytoskeleton organization; regulation of small GTPase mediated signal transduction | 14q23.2 |
| RHOQ | regulation of actin cytoskeleton organization; cellular response to insulin stimulus; cortical actin cytoskeleton organization; regulation of cell shape; 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; GTP catabolic process; small GTPase mediated signal transduction; insulin receptor signaling pathway | 2p21 |
| RHOQP1 | - | 14q21.3 |
| RHOQP2 | - | 2q21.1 |
| RHOQP3 | - | 2q21.1 |
| RHOT1 | small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; apoptotic process; cellular homeostasis; mitochondrion transport along microtubule | 17q11.2 |
| RHOT1P1 | - | 18p11.21 |
| RHOT1P2 | - | - |
| RHOT2 | regulation of small GTPase mediated signal transduction; mitochondrion transport along microtubule; small GTPase mediated signal transduction; apoptotic process; cellular homeostasis | 16p13.3 |
| RHOU | small GTPase mediated signal transduction; G1/S transition of mitotic cell cycle; regulation of small GTPase mediated signal transduction; actin cytoskeleton organization; regulation of cell shape; cytoskeleton organization; Rac protein signal transduction | 1q42.11-q42.3 |
| RHOV | signal transduction; regulation of small GTPase mediated signal transduction; 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 actin filament polymerization; regulation of protein kinase B signaling cascade; embryo development; fibroblast growth factor receptor signaling pathway; actin cytoskeleton reorganization; 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; epidermal growth factor receptor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; T cell costimulation | 5p13.1 |
| RIF1 | response to DNA damage stimulus; cell cycle | 2q23.3 |
| RIIAD1 | signal transduction | 1q21.3 |
| RILP | protein transport; endosome to lysosome 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 | response to stimulus; synaptic transmission; regulated secretory pathway; calcium ion-dependent exocytosis; protein complex assembly; cellular membrane fusion; intracellular protein transport; glutamate secretion; synaptic vesicle exocytosis; secretion; visual perception; neurotransmitter secretion | 6q12-q13 |
| RIMS2 | intracellular protein transport | 8q22.3 |
| RIMS3 | calcium ion-dependent exocytosis; neurotransmitter transport | 1pter-p22.2 |
| RIMS4 | exocytosis; neurotransmitter transport | 20q13.12 |
| RIN1 | signal transduction; endocytosis | 11q13.2 |
| RIN2 | signal transduction; endocytosis; small GTPase mediated signal transduction | 20p11.22 |
| RIN3 | endocytosis; signal transduction | 14q32.12 |
| RING1 | negative regulation of transcription, DNA-dependent; anterior/posterior pattern specification; chromatin modification; histone ubiquitination; histone H2A monoubiquitination; camera-type eye morphogenesis | 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 transcription from RNA polymerase II promoter; toll-like receptor 3 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 immune response; negative regulation of extrinsic apoptotic signaling pathway; positive regulation of reactive oxygen species metabolic process; regulation of ATP:ADP antiporter activity; positive regulation of anti-apoptosis; positive regulation of necrotic cell death; protein autophosphorylation; positive regulation of NF-kappaB transcription factor activity; positive regulation of necroptosis; induction of necroptosis by extracellular signals; tumor necrosis factor-mediated signaling pathway; positive regulation of tumor necrosis factor production; positive regulation of interleukin-8 production; activation of pro-apoptotic gene products; induction of apoptosis by | 6p25.2 |
| RIPK2 | nucleotide-binding oligomerization domain containing signaling pathway; nucleotide-binding oligomerization domain containing 1 signaling pathway; cellular response to lipoteichoic acid; nucleotide-binding oligomerization domain containing 2 signaling pathway; response to interleukin-1; response to interleukin-12; response to interleukin-18; positive regulation of cytokine-mediated signaling pathway; cellular response to peptidoglycan; T cell proliferation; positive regulation of protein ubiquitination; lipopolysaccharide-mediated signaling pathway; positive regulation of chemokine production; positive regulation of interferon-gamma production; positive regulation of interleukin-2 production; positive regulation of interleukin-6 production; positive regulation of tumor necrosis factor production; positive regulation of immature T cell proliferation; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRI | 8q21 |
| RIPK3 | protein modification process; protein phosphorylation; signal transduction; induction of apoptosis by extracellular signals; I-kappaB kinase/NF-kappaB cascade | 14q11.2 |
| RIPK4 | - | 21q22.3 |
| RIPPLY2 | somitogenesis; multicellular organismal development; ossification; determination of left/right symmetry; axis specification; somite rostral/caudal axis specification; tail morphogenesis | 6q14.2 |
| RIPPLY3 | - | 21q22.2 |
| RIT1 | signal transduction; small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway | 1q22 |
| RIT2 | small GTPase mediated signal transduction; signal transduction; GTP catabolic process; synaptic transmission; nerve growth factor receptor signaling pathway | 18q12.3 |
| RITA1 | neurogenesis; negative regulation of transcription from RNA polymerase II promoter; negative regulation of Notch signaling pathway; nuclear export | 12q24.13 |
| RLBP1 | response to stimulus; vitamin A metabolic process; visual perception | 15q26 |
| RLF | chromosome organization; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; DNA integration; DNA mediated transformation; regulation of transcription, DNA-dependent | 1p32 |
| RLIM | negative regulation of transcription, DNA-dependent; random inactivation of X chromosome; negative regulation of sequence-specific DNA binding transcription factor activity; protein ubiquitination; negative regulation of transcription from RNA polymerase II promoter; ubiquitin-dependent protein catabolic process | Xq13-q21 |
| RLIMP1 | - | - |
| RLN1 | signal transduction; female pregnancy | 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 | chemotaxis; RNA catabolic process | 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 | response to bacterium; innate immune response; defense response to bacterium | 14q11.2 |
| RNASEH1 | mitochondrial DNA replication; RNA catabolic process | 2p25 |
| RNASEH1-AS1 | - | 2p25 |
| RNASEH1P1 | - | 17p11.2 |
| RNASEH2A | DNA replication; RNA catabolic process | 19p13.2 |
| RNASEH2B | RNA catabolic process | 13q14.3 |
| RNASEH2C | RNA catabolic process | 11q13.1 |
| RNASEL | type I interferon-mediated signaling pathway; mRNA processing; protein phosphorylation; cytokine-mediated signaling pathway; negative regulation of viral genome replication; defense response to virus | 1q25 |
| RNASET2 | RNA catabolic process | 6q27 |
| RND1 | actin filament organization; axon guidance; GTP catabolic process; small GTPase mediated signal transduction; negative regulation of cell adhesion; neuron remodeling | 12q12 |
| RND2 | GTP catabolic process; signal transduction; small GTPase mediated signal transduction | 17q21 |
| RND3 | cell adhesion; GTP catabolic process; small GTPase mediated signal transduction; actin cytoskeleton organization | 2q23.3 |
| RNF10 | positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of myelination; negative regulation of Schwann cell proliferation | 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 | multicellular organismal development; positive regulation of transcription, DNA-dependent; protein ubiquitination | 15q21 |
| RNF112 | - | 17p11.2 |
| RNF113A | - | Xq25-q26 |
| RNF114 | cell differentiation; spermatogenesis; multicellular organismal development | 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 | protein ubiquitination; programmed cell death; apoptotic process | 5q35.3 |
| RNF133 | - | 7q31.32 |
| RNF135 | innate immune response; protein ubiquitination; negative regulation of type I interferon production; positive regulation of interferon-beta production; regulation of innate immune response | 17q11.2 |
| RNF138 | Wnt receptor signaling pathway | 18q12.1 |
| RNF139 | regulation of protein processing; negative regulation of cell proliferation; negative regulation of translation; regulation of protein ubiquitination; protein ubiquitination; regulation of ER to Golgi vesicle-mediated transport | 8q24 |
| RNF139-AS1 | - | 8q24.13 |
| RNF14 | androgen receptor signaling pathway; protein ubiquitination; signal transduction; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; regulation of androgen receptor signaling pathway; response to estradiol stimulus; positive regulation of transcription, DNA-dependent | 5q23.3-q31.1 |
| RNF141 | regulation of transcription, DNA-dependent | 11p15.4 |
| RNF144A | - | 2p25.2 |
| RNF144A-AS1 | - | 2p25.2 |
| RNF144B | apoptotic process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; positive regulation of anti-apoptosis | 6p22.3 |
| RNF145 | - | 5q33.3 |
| RNF146 | positive regulation of canonical Wnt receptor signaling pathway; protein autoubiquitination; protein K48-linked ubiquitination; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; Wnt receptor signaling pathway | 6q22.1-q22.33 |
| RNF148 | - | 7q31.33 |
| RNF149 | - | 2q11.2 |
| RNF150 | - | 4q31.21 |
| RNF152 | apoptotic process; protein K48-linked ubiquitination | 18q21.33 |
| RNF157 | - | 17q25.1 |
| RNF157-AS1 | - | - |
| RNF165 | - | 18q21.1 |
| RNF166 | - | 16q24.3 |
| RNF167 | protein polyubiquitination; negative regulation of cell cycle | 17p13.2 |
| RNF168 | chromatin modification; positive regulation of DNA repair; response to ionizing radiation; double-strand break repair; histone H2A K63-linked ubiquitination | 3q29 |
| RNF169 | - | 11q13.4 |
| RNF17 | spermatogenesis; multicellular organismal development; cell differentiation; spermatid development | 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 | positive regulation of cell proliferation; protein K48-linked ubiquitination; protein autoubiquitination; proteasomal ubiquitin-dependent protein catabolic process; positive regulation of transcription, DNA-dependent | 1q42.13 |
| RNF19A | protein modification process; microtubule cytoskeleton organization | 8q22 |
| RNF19B | - | 1p35.1 |
| RNF2 | regulation of transcription, DNA-dependent; gastrulation with mouth forming second; mitotic cell cycle; histone H2A monoubiquitination; histone ubiquitination; anterior/posterior axis specification; negative regulation of transcription from RNA polymerase II promoter | 1q25.3 |
| RNF20 | ubiquitin-dependent protein catabolic process; histone monoubiquitination; regulation of transcription, DNA-dependent; protein polyubiquitination; positive regulation of transcription, DNA-dependent; histone H2B ubiquitination; chromatin modification; negative regulation of cell migration | 9q22 |
| RNF207 | - | 1p36.31 |
| RNF208 | - | 9q34.3 |
| RNF212 | - | 4p16.3 |
| RNF213 | protein autoubiquitination; protein ubiquitination; ATP catabolic process | 17q25.3 |
| RNF214 | - | 11q23.3 |
| RNF215 | - | 22q12.2 |
| RNF216 | apoptotic process; regulation of interferon-beta production; proteasomal ubiquitin-dependent protein catabolic process; protein K48-linked ubiquitination; regulation of defense response to virus by host; interspecies interaction between organisms | 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 | positive regulation of NF-kappaB transcription factor activity; T cell receptor signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; CD40 signaling pathway; protein polyubiquitination; protein linear polyubiquitination | 14q11.2 |
| RNF32 | - | 7q36 |
| RNF34 | apoptotic process | 12q24.31 |
| RNF38 | - | 9p13 |
| RNF39 | - | 6p21.3 |
| RNF4 | response to arsenic-containing substance; 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; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; proteasomal ubiquitin-dependent protein catabolic process; androgen receptor signaling pathway; regulation of transcription, DNA-dependent | 4p16.3 |
| RNF40 | chromatin modification; histone H2B ubiquitination; ubiquitin-dependent protein catabolic process; histone monoubiquitination | 16p11.2-p11.1 |
| RNF41 | protein ubiquitination; induction of apoptosis; apoptotic process; protein polyubiquitination; regulation of reactive oxygen species metabolic process | 12q13.13 |
| RNF43 | - | 17q22 |
| RNF44 | - | 5q35.2 |
| RNF5 | ER-associated misfolded protein catabolic process; cellular protein catabolic process; protein K63-linked ubiquitination; protein K48-linked ubiquitination | 6p21.3 |
| RNF5P1 | - | 8p11.22 |
| RNF6 | regulation of transcription, DNA-dependent; negative regulation of axon extension; protein K27-linked ubiquitination; protein ubiquitination; ubiquitin-dependent protein catabolic process; positive regulation of transcription, DNA-dependent; regulation of androgen receptor signaling pathway; protein K48-linked ubiquitination; protein K6-linked ubiquitination | 13q12.2 |
| RNF6P1 | - | - |
| RNF7 | protein neddylation; induction of apoptosis by oxidative stress; response to redox state; anti-apoptosis | 3q22-q24 |
| RNF8 | chromatin modification; double-strand break repair; cell cycle; response to ionizing radiation; mitosis; cell division; positive regulation of DNA repair; histone H2B ubiquitination; histone H2A ubiquitination | 6p21.3 |
| RNFT1 | - | 17q23.1 |
| RNFT2 | - | 12q24.22 |
| RNGTT | transcription from RNA polymerase II promoter; mRNA capping; RNA processing; gene expression; viral reproduction; interspecies interaction between organisms | 6q16 |
| RNH1 | mRNA catabolic process; regulation of angiogenesis | 11p15.5 |
| RNLS | - | 10q23.31 |
| RNMT | transcription from RNA polymerase II promoter; viral reproduction; mRNA capping; gene expression | 18p11.21 |
| RNMTL1 | RNA processing | 17p13.3 |
| RNPC3 | RNA splicing; mRNA processing | 1p21 |
| RNPC3P1 | - | 3p13 |
| RNPEP | retina development in camera-type eye; negative regulation of blood pressure; leukotriene biosynthetic process; aging; proteolysis | 1q32 |
| RNPEPL1 | proteolysis; leukotriene biosynthetic process | 2q37.3 |
| RNPS1 | mRNA metabolic process; RNA metabolic process; mRNA 3'-end processing; nuclear mRNA splicing, via spliceosome; gene expression; RNA splicing; mRNA export from nucleus; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; transcription, DNA-dependent; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 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 | regulation of dendrite morphogenesis; Roundabout signaling pathway; negative regulation of mammary gland epithelial cell proliferation; positive regulation of axonogenesis; negative regulation of negative chemotaxis; mammary duct terminal end bud growth; negative regulation of chemokine-mediated signaling pathway; olfactory bulb interneuron development; chemorepulsion involved in postnatal olfactory bulb interneuron migration; homophilic cell adhesion; multicellular organismal development; cell differentiation; nervous system development; axon guidance; cell adhesion; activation of cysteine-type endopeptidase activity involved in apoptotic process; cell migration involved in sprouting angiogenesis; negative regulation of cell proliferation; axon midline choice point recognition; spinal cord development | 3p12 |
| ROBO2 | positive regulation of axonogenesis; negative regulation of negative chemotaxis; negative regulation of synapse assembly; retinal ganglion cell axon guidance; apoptotic process involved in luteolysis; cellular response to hormone stimulus; cell differentiation; olfactory bulb interneuron development; axon midline choice point recognition; brain development; central nervous system development; axon guidance; multicellular organismal development; homophilic cell adhesion; ureteric bud development; metanephros development | 3p12.3 |
| ROBO3 | neuron migration; axon guidance; nervous system development; cell differentiation; axon midline choice point recognition; multicellular organismal development | 11q24.2 |
| ROBO4 | cell differentiation; regulation of cell migration; multicellular organismal development; angiogenesis | 11q24.2 |
| ROCK1 | leukocyte migration; Rho protein signal transduction; axon guidance; negative regulation of angiogenesis; membrane to membrane docking; actin cytoskeleton organization; signal transduction; regulation of cell adhesion; bleb assembly; regulation of actin cytoskeleton organization; intracellular signal transduction; negative regulation of neuron apoptosis; regulation of keratinocyte differentiation; leukocyte tethering or rolling; regulation of stress fiber assembly; regulation of focal adhesion assembly; regulation of establishment of cell polarity; regulation of cell motility; smooth muscle contraction; cellular component disassembly involved in apoptosis; apoptotic process; protein phosphorylation; cytokinesis; leukocyte cell-cell adhesion | 18q11.1 |
| ROCK1P1 | - | 18p11.32 |
| ROCK2 | axon guidance; regulation of stress fiber assembly; regulation of cell motility; negative regulation of angiogenesis; regulation of keratinocyte differentiation; regulation of cell adhesion; regulation of actin cytoskeleton organization; intracellular signal transduction; cytokinesis; neural tube closure; smooth muscle contraction; positive regulation of centrosome duplication; centrosome duplication; protein phosphorylation; regulation of focal adhesion assembly; regulation of establishment of cell polarity | 2p24 |
| ROGDI | hemopoiesis; positive regulation of cell proliferation | 16p13.3 |
| ROM1 | visual perception; cell adhesion | 11q13 |
| ROMO1 | defense response to bacterium; positive regulation of cell proliferation; positive regulation of reactive oxygen species metabolic process; replicative cell aging; cellular response to reactive oxygen species | 20q11.22 |
| ROPN1 | signal transduction | 3q21.1 |
| ROPN1B | sperm motility; cytokinesis; cell-cell adhesion; fusion of sperm to egg plasma membrane; acrosome reaction; spermatogenesis; Rho protein signal transduction; signal transduction | 3q21.2 |
| ROPN1L | signal transduction; ciliary or flagellar motility | 5p15.2 |
| ROR1 | transmembrane receptor protein tyrosine kinase signaling pathway | 1p32-p31 |
| ROR1-AS1 | - | - |
| ROR2 | embryonic genitalia morphogenesis; 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; positive regulation of cell migration; negative regulation of cell proliferation; skeletal system development; multicellular organismal development; JNK cascade; Wnt receptor signaling pathway, calcium modulating pathway; transmembrane receptor protein tyrosine kinase signaling pathway; cartilage condensation; somitogenesis; signal transduction; cell differentiation | 9q22 |
| RORA | cerebellar Purkinje cell differentiation; cGMP metabolic process; positive regulation of transcription from RNA polymerase II promoter; regulation of macrophage activation; intracellular receptor mediated signaling pathway; gene expression; signal transduction; nitric oxide biosynthetic process | 15q22.2 |
| RORB | response to stimulus; intracellular receptor mediated signaling pathway; positive regulation of transcription, DNA-dependent; gene expression; visual perception; multicellular organismal development; regulation of transcription, DNA-dependent; eye photoreceptor cell development | 9q22 |
| RORC | multicellular organismal development; gene expression; intracellular receptor mediated signaling pathway | 1q21 |
| ROS1 | cell differentiation; regulation of phosphate transport; cell growth; columnar/cuboidal epithelial cell development; protein phosphorylation; transmembrane receptor protein tyrosine kinase signaling pathway; spermatogenesis; cell proliferation; negative regulation of gene expression; regulation of TOR signaling cascade; regulation of ERK1 and ERK2 cascade | 6q22 |
| RP1 | visual perception; phototransduction, visible light; cell projection organization; retina morphogenesis in camera-type eye; cellular response to light stimulus; axoneme assembly; intracellular signal transduction; photoreceptor cell outer segment organization; photoreceptor cell development; photoreceptor cell maintenance; retinal rod cell development; retinal cone cell development; response to stimulus | 8q12.1 |
| RP1L1 | photoreceptor cell development; cell projection organization; intracellular signal transduction; photoreceptor cell maintenance; response to stimulus | 8p23.1 |
| RP2 | CTP biosynthetic process; UTP biosynthetic process; protein folding; post-chaperonin tubulin folding pathway; visual perception; protein transport; positive regulation of GTPase activity; cell morphogenesis; GTP biosynthetic process | Xp11.3 |
| RP9 | RNA splicing | 7p14.3 |
| RP9P | - | 7p14.3 |
| RPA1 | telomere maintenance via semi-conservative replication; DNA 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; in utero embryonic development; homeostasis of number of cells within a tissue; chromosome organization; 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; nucleotide-excision repair, DNA gap filling; S phase of mitotic cell cycle; mitotic cell cycle; nucleotide-excision repair, DNA damage removal; telomere maintenance via recombination; telomere maintenance; double-strand break repair via homologous recombination; DNA recombinase assembly; DNA replication; DNA-dependent DNA replication; DNA strand elongation involved in DNA replication; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; double-strand break repair; DNA recombination; regulation of double-strand break repair via homologous recombination; telomere maintenance via semi-conservative replication; cell cycle checkpoint; G1/S transition of mitotic cell cycle | 1p35 |
| RPA3 | 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; double-strand break repair via homologous recombination; DNA recombinase assembly; DNA replication; DNA strand elongation involved in DNA replication; 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 damage checkpoint; G1/S transition of mitotic cell cycle; M/G1 transition of mitotic cell cycle; DNA replication involved in S phase; mitotic cell cycle; DNA-dependent DNA replication initiation; nucleotide-excision repair | Xq21.33 |
| RPAIN | DNA repair; response to UV; DNA recombination; DNA-dependent DNA replication; protein import into nucleus | 17p13.2 |
| RPAP1 | - | 15q15.1 |
| RPAP2 | snRNA transcription; dephosphorylation of RNA polymerase II C-terminal domain | 1p22.1 |
| RPAP3 | - | 12q13.11 |
| RPARP-AS1 | - | - |
| RPE | carbohydrate metabolic process; pentose-phosphate shunt; small molecule metabolic process | 2q32-q33.3 |
| RPE65 | visual perception; response to stimulus; 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 | response to stimulus; cell projection organization; visual perception; intracellular protein transport; cilium assembly | Xp21.1 |
| RPGRIP1 | visual perception; retina development in camera-type eye; eye photoreceptor cell development; response to stimulus | 14q11 |
| RPGRIP1L | olfactory bulb development; embryonic hindlimb morphogenesis; lateral ventricle development; specification of segmental identity, mandibular segment; cilium assembly; cerebellum development; camera-type eye development; nose development; negative regulation of G-protein coupled receptor protein signaling pathway; pericardium development; neural tube patterning; regulation of smoothened signaling pathway; brain development; specification of segmental identity, maxillary segment; determination of left/right symmetry; liver development; head development; corpus callosum development; in utero embryonic development; embryonic forelimb morphogenesis; limb morphogenesis; kidney development | 16q12.2 |
| RPH3A | intracellular protein transport | 12q24.13 |
| RPH3AL | positive regulation of protein secretion; regulation of calcium ion-dependent exocytosis; exocytosis; response to drug; intracellular protein transport; negative regulation of G-protein coupled receptor protein signaling pathway; glucose homeostasis | 17p13.3 |
| RPIA | carbohydrate metabolic process; ribose phosphate metabolic process; small molecule metabolic process; pentose-phosphate shunt, non-oxidative branch; metabolic process; pentose-phosphate shunt | 2p11.2 |
| RPIAP1 | - | 18q21.33 |
| RPL10 | mRNA metabolic process; viral infectious cycle; 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; viral transcription; cellular protein metabolic process; RNA metabolic process | Xq28 |
| RPL10A | viral transcription; cellular protein metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; anatomical structure morphogenesis; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle | 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 | cellular protein metabolic process; ribosomal large subunit biogenesis; protein localization to nucleus; viral transcription; viral infectious cycle; translational elongation; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; protein targeting; translational termination; translational initiation; translation; rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 1p36.1-p35 |
| RPL11P5 | - | 12q24.31 |
| RPL12 | RNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; viral reproduction; mRNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process; gene expression | 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 | viral transcription; cellular protein metabolic process; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; gene expression; 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; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; rRNA processing; 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 | 3p22-p21.2 |
| RPL14P1 | - | 12q14.2 |
| RPL14P3 | - | 4q31.1 |
| RPL14P5 | - | Xp22.33;Yp11.32 |
| RPL15 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; 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 | 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; viral transcription; cellular protein metabolic process; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral reproduction; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 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 | translational termination; 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; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 19q13 |
| RPL18A | viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process; translational elongation; SRP-dependent cotranslational protein targeting to membrane; translational termination; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translational initiation; translation; gene expression | 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 | 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 | 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 | 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; translation | 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; cellular protein metabolic process; viral transcription; viral infectious cycle; translational termination; mRNA metabolic process; RNA metabolic process; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; viral reproduction | 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 | viral transcription; cellular protein metabolic process; mRNA metabolic process; translational elongation; viral infectious cycle; RNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; ribosomal protein import into nucleus; translational termination; translational initiation | 17q |
| RPL23A | 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; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; 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 | RNA metabolic process; viral reproduction; 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; viral infectious cycle; mRNA metabolic process; viral transcription; optic nerve development; retinal ganglion cell axon guidance; mitotic cell cycle G1/S transition checkpoint; cellular protein metabolic process; retina development in camera-type eye | 3q12 |
| RPL24P2 | - | 20p11.23 |
| RPL24P4 | - | 6p21.1 |
| RPL24P6 | - | 3q29 |
| RPL24P8 | - | 9q21.11 |
| RPL26 | SRP-dependent cotranslational protein targeting to membrane; cellular protein metabolic process; ribosomal large subunit biogenesis; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; translational termination; translational elongation; translational initiation; translation; rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 17p13 |
| RPL26L1 | viral infectious cycle; translational initiation; viral transcription; viral reproduction; RNA metabolic process; mRNA metabolic process; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; cellular protein metabolic process; translational elongation; 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 | viral reproduction; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; gene expression; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; SRP-dependent cotranslational protein targeting to membrane | 17q21 |
| RPL27A | viral reproduction; cellular protein metabolic process; 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 | 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 | cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; embryo implantation; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 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; 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; translation | 22q13 |
| RPL30 | RNA metabolic process; viral transcription; cellular protein metabolic process; mRNA metabolic process; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; viral infectious cycle; translation; 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; translational initiation; 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 | 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 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; cellular protein metabolic process; 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 | 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 | 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; viral transcription; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 9q34.1 |
| RPL35A | rRNA processing; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; gene expression; viral reproduction; cellular protein metabolic process; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral transcription; ribosomal large subunit biogenesis; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 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 | cellular protein metabolic process; 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 transcription; viral infectious cycle; viral reproduction; RNA metabolic process; mRNA metabolic process | 19p13.3 |
| RPL36A | 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; translation | 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 | mRNA metabolic process; SRP-dependent cotranslational protein targeting to membrane; translation; translational initiation; translational elongation; translational termination; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; gene expression; viral reproduction; RNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process | 5p13 |
| RPL37A | translational termination; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; cellular protein metabolic process; viral transcription; translational elongation; SRP-dependent cotranslational protein targeting to membrane; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle | 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 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; cellular protein metabolic process; viral transcription; mRNA metabolic process; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; gene expression; viral reproduction; viral infectious cycle; RNA metabolic process | 17q25.1 |
| RPL38P2 | - | 2p12 |
| RPL39 | gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; cellular protein metabolic process; translational elongation; viral transcription; SRP-dependent cotranslational protein targeting to membrane; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; translational termination | Xq24 |
| RPL39L | spermatogenesis; translation | 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; cellular protein metabolic process; 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 | 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 | translational termination; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; SRP-dependent cotranslational protein targeting to membrane; gene expression; viral reproduction; RNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process; mRNA metabolic process | 15q22 |
| RPL41 | SRP-dependent cotranslational protein targeting to membrane; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral transcription; translational termination; translational elongation; cellular protein metabolic process | 12q13 |
| RPL41P2 | - | 15q11-q13 |
| RPL4P1 | - | 14q11.2 |
| RPL4P2 | - | 1q24.1 |
| RPL4P3 | - | 1q24.3 |
| RPL4P4 | - | 3q27.2 |
| RPL4P5 | - | 9p24.1 |
| RPL4P6 | - | 22q13.2 |
| RPL5 | mRNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; rRNA processing; cellular protein metabolic process; ribosomal large subunit biogenesis; viral transcription; viral infectious cycle; RNA metabolic process; viral reproduction; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; gene expression | 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 | cellular protein metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; regulation of transcription, DNA-dependent; 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; viral transcription | 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 | cellular protein metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; ribosomal large subunit biogenesis; 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; rRNA processing; gene expression | 8q21.11 |
| RPL7A | viral infectious cycle; cellular protein metabolic process; ribosome biogenesis; viral transcription; 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; gene expression | 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 | translation; viral transcription; 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; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 8q24.3 |
| RPL8P2 | - | 21q22.11 |
| RPL9 | translation; viral transcription; cellular protein metabolic process; viral infectious cycle; mRNA metabolic process; RNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translational initiation; translational elongation; translational termination; viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane | 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; viral infectious cycle; viral transcription; translational initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; ribosome biogenesis; cellular protein metabolic process; RNA metabolic process; interspecies interaction between organisms; gene expression; translational elongation; translational termination; viral reproduction; SRP-dependent cotranslational protein targeting to membrane | 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 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; gene expression; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction | 15q22 |
| RPLP1P1 | - | 14q24.3 |
| RPLP1P13 | - | - |
| RPLP1P4 | - | 2q31.1 |
| RPLP1P6 | - | 5q33.1 |
| RPLP1P7 | - | 5q23.2 |
| RPLP1P8 | - | 6q23.3 |
| RPLP2 | cellular protein metabolic process; 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 | 11p15.5 |
| RPLP2P1 | - | 6p22.1 |
| RPLP2P5 | - | 17q23.2 |
| RPN1 | SRP-dependent cotranslational protein targeting to membrane; cellular protein metabolic process; protein N-linked glycosylation via asparagine; post-translational protein modification; translation; protein glycosylation; protein modification process; gene expression | 3q21.3 |
| RPN2 | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; gene expression; SRP-dependent cotranslational protein targeting to membrane; protein modification process; translation | 20q12-q13.1 |
| RPP14 | tRNA processing | 3p14.3 |
| RPP21 | tRNA processing; response to drug | 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 | cell cycle arrest; regulation of mitotic cell cycle | 17q21.32 |
| RPS10 | mRNA metabolic process; 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; viral infectious cycle; viral transcription; cellular protein metabolic process | 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 | viral infectious cycle; viral transcription; 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; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 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 infectious cycle; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; cellular protein metabolic process; negative regulation of RNA splicing; 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 transcription | 11p15 |
| RPS13P2 | - | 1p32.3 |
| RPS13P5 | - | 2p23.3 |
| RPS13P7 | - | 15q21.3 |
| RPS14 | translational elongation; negative regulation of transcription from RNA polymerase II promoter; 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 initiation; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; ribosomal small subunit assembly | 5q31-q33 |
| RPS14P3 | - | 1p36.13 |
| RPS14P4 | - | 2q13 |
| RPS15 | SRP-dependent cotranslational protein targeting to membrane; ribosomal small subunit export from nucleus; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; rRNA processing; translation; translational initiation; translational elongation; translational termination; viral reproduction; gene expression; cellular protein metabolic process; ribosomal small subunit biogenesis; viral transcription; mRNA metabolic process; RNA metabolic process; viral infectious cycle | 19p13.3 |
| RPS15A | RNA metabolic process; positive regulation of cell cycle; cellular protein metabolic process; viral transcription; viral infectious cycle; mRNA 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; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 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 | cellular protein metabolic process; ribosomal small subunit biogenesis; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gene expression; translational termination; translational elongation; translational initiation; translation; rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; SRP-dependent cotranslational protein targeting to membrane | 19q13.1 |
| RPS16P1 | - | 1p36.21 |
| RPS16P5 | - | 6p12.1 |
| RPS16P8 | - | 17q11.1 |
| RPS16P9 | - | 19q13.32 |
| RPS17 | gene expression; cellular protein metabolic process; ribosomal small subunit biogenesis; erythrocyte homeostasis; 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; 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; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; gene expression; RNA metabolic process; viral reproduction; cellular protein metabolic process; ribosome biogenesis; viral transcription; viral infectious cycle; mRNA metabolic process | 6p21.3 |
| RPS18P10 | - | 6q24.1 |
| RPS18P11 | - | 8q13.3 |
| RPS18P12 | - | 17p12 |
| RPS18P9 | - | 6q25.1 |
| RPS19 | positive regulation of cellular component movement; anatomical structure development; response to extracellular stimulus; cellular protein metabolic process; ribosomal small subunit biogenesis; erythrocyte differentiation; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; gas transport; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; gene expression; rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 19q13.2 |
| RPS19BP1 | - | 22q13.1 |
| RPS19P2 | - | 1p13.2 |
| RPS19P3 | - | 14q13.2 |
| RPS2 | translational elongation; RNA metabolic process; viral reproduction; gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational termination; translational initiation; SRP-dependent cotranslational protein targeting to membrane; mRNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process | 16p13.3 |
| RPS20 | 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 | 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 | cell differentiation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; 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); cellular protein metabolic process; ribosomal small subunit biogenesis; translation; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA); viral reproduction; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation | 20q13.3 |
| RPS21P2 | - | 2q12.2 |
| RPS21P4 | - | 4p15.32 |
| RPS23 | 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 | 5q14.2 |
| RPS23P2 | - | 4q28.3 |
| RPS23P4 | - | 4q31.22 |
| RPS23P7 | - | 17q23.2 |
| RPS23P8 | - | Xq13.1 |
| RPS24 | 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; viral transcription; viral infectious cycle; erythrocyte homeostasis; ribosomal small subunit biogenesis; 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 | translational termination; 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; translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; ribosomal small subunit assembly | 11q23.3 |
| RPS25P2 | - | 1q32.2 |
| RPS25P4 | - | 3p21.1 |
| RPS25P6 | - | 5q23.1 |
| RPS25P7 | - | 6p25 |
| RPS25P8 | - | 9q33.2 |
| RPS26 | negative regulation of RNA splicing; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; cellular protein metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; gene expression | 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 | M phase of mitotic cell cycle; cellular protein metabolic process; mitotic cell cycle; translation; translational initiation; translational elongation; translational termination; mitotic prometaphase; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; SRP-dependent cotranslational protein targeting to membrane; cell proliferation; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral transcription | 1q21 |
| RPS27A | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; cell cycle checkpoint; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; MyD88-dependent toll-like receptor signaling pathway; anti-apoptosis; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; translation; DNA repair; MyD88-independent toll-like receptor signaling pathway; S phase of mitotic cell cycle; 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; M/G1 transition of mitotic cell cycle; protein polyubiquitination; activation of MAPK activity; apoptotic process; RNA metabolic process; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; negative regulation of type I interferon production; a | 2p16 |
| RPS27AP1 | - | 17p13.1 |
| RPS27AP14 | - | 9p24.3 |
| RPS27AP17 | - | Xp22.31 |
| RPS27AP3 | - | 20q11.2 |
| RPS27AP5 | - | 1q31.2 |
| RPS27AP8 | - | 3q26.31 |
| RPS27L | 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; response to DNA damage stimulus; DNA repair; translation; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of anti-apoptosis | 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; mRNA metabolic process; RNA metabolic process; viral reproduction; translational initiation; gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; rRNA processing; translation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane | 19p13.2 |
| RPS28P1 | - | 14q23.2 |
| RPS28P3 | - | 1q42.13 |
| RPS28P4 | - | 2q37.1 |
| RPS28P5 | - | 2p13.1 |
| RPS28P7 | - | 11q14.1 |
| RPS28P8 | - | 13q14.11 |
| RPS29 | viral reproduction; RNA metabolic process; mRNA metabolic process; translation; viral infectious cycle; viral transcription; cellular protein metabolic process; gene expression; SRP-dependent cotranslational protein targeting to membrane; translational termination; translational elongation; translational initiation; 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 | induction of apoptosis; 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; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; response to DNA damage stimulus; activation of cysteine-type endopeptidase activity involved in apoptotic process | 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 | positive regulation of cell proliferation; viral reproduction; multicellular organismal development; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; gene expression; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process; positive regulation of translation; translational termination; SRP-dependent cotranslational protein targeting to membrane | 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 | viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; multicellular organismal development; gene expression | Yp11.3 |
| RPS4Y1P1 | - | 16q23.1 |
| RPS4Y2 | translation | Yq11.223 |
| RPS5 | translational initiation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translational elongation; translational termination; regulation of translational fidelity; SRP-dependent cotranslational protein targeting to membrane; gene expression; viral reproduction; RNA metabolic process; mRNA metabolic process; viral infectious cycle; viral transcription; cellular protein metabolic process; translation | 19q13.4 |
| RPS5P2 | - | 21q22.11 |
| RPS5P3 | - | 21q22.11 |
| RPS5P5 | - | 8q21.13 |
| RPS6 | oogenesis stage; glucose homeostasis; viral transcription; viral infectious cycle; mRNA metabolic process; RNA metabolic process; viral reproduction; TOR signaling cascade; T cell differentiation in thymus; erythrocyte development; cellular protein metabolic process; negative regulation of apoptotic process; positive regulation of apoptotic process; translational termination; ribosomal small subunit biogenesis; gene expression; insulin receptor signaling pathway; gastrulation; mitosis; activation-induced cell death of T cells; SRP-dependent cotranslational protein targeting to membrane; translational elongation; translational initiation; translation; rRNA processing; T cell proliferation involved in immune response; placenta development; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; ribosomal small subunit assembly; mitotic cell cycle G1/S transition checkpoint | 9p21 |
| RPS6KA1 | Toll signaling pathway; 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 DNA-dependent transcription in response to stress; regulation of translation in response to stress; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; 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; positive regulation of cell growth; axon guidance; synaptic transmission; intracellular protein kinase cascade; signal transduction; cell cycle; response to stress; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; positive | 1p |
| RPS6KA2 | synaptic transmission; toll-like receptor 1 signaling pathway; negative regulation of cell proliferation; Toll signaling pathway; axon guidance; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 2 signaling pathway; stress-activated MAPK cascade; nerve growth factor receptor signaling pathway; negative regulation of cell cycle; innate immune response; positive regulation of apoptotic process; intracellular protein kinase cascade; signal transduction; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; intracellular signal transduction; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway | 6q27 |
| RPS6KA2-AS1 | - | 6q27 |
| RPS6KA2-IT1 | - | - |
| RPS6KA3 | innate immune response; regulation of DNA-dependent transcription in response to stress; positive regulation of cell differentiation; regulation of translation in response to stress; skeletal system development; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; stress-activated MAPK cascade; nerve growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process; cell cycle; signal transduction; intracellular protein kinase cascade; synaptic transmission; axon guidance; response to stress; central nervous system development; Toll signaling pathway; positive regulation of cell growth; protein phosphorylation; MyD88-independent toll-like receptor signaling pathway; 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 recept | Xp22.2-p22.1 |
| RPS6KA4 | positive regulation of histone acetylation; regulation of transcription, DNA-dependent; interleukin-1-mediated signaling pathway; positive regulation of NF-kappaB transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; histone H3-S28 phosphorylation; histone H3-S10 phosphorylation; positive regulation of histone phosphorylation; positive regulation of CREB transcription factor activity; histone phosphorylation; axon guidance; intracellular protein kinase cascade; inflammatory response; response to stress; protein phosphorylation; negative regulation of cytokine production | 11q11-q13 |
| RPS6KA5 | protein phosphorylation; regulation of transcription, DNA-dependent; response to stress; inflammatory response; MyD88-independent toll-like receptor signaling pathway; epidermal growth factor receptor signaling pathway; intracellular protein kinase cascade; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; TRIF-dependent toll-like receptor signaling pathway; positive regulation of histone acetylation; positive regulation of CREB transcription factor activity; negative regulation of cytokine production; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 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; histone phosphorylation; response to external | 14q31-q32.1 |
| RPS6KA6 | negative regulation of mesoderm development; protein phosphorylation; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; signal transduction; intracellular protein kinase cascade; synaptic transmission; axon guidance; central nervous system development; negative regulation of embryonic development; negative regulation of ERK1 and ERK2 cascade | Xq21 |
| RPS6KB1 | response to ethanol; negative regulation of insulin receptor signaling pathway; regulation of glucose import; positive regulation of translational initiation; positive regulation of mitotic cell cycle; positive regulation of translation; response to leucine; cellular response to hormone stimulus; skeletal muscle atrophy; response to electrical stimulus involved in regulation of muscle adaptation; positive regulation of smooth muscle cell migration; cell migration; TOR signaling cascade; response to lipopolysaccharide; response to insulin stimulus; positive regulation of smooth muscle cell proliferation; phosphatidylinositol-mediated signaling; response to testosterone stimulus; response to glucagon stimulus; response to tumor necrosis factor; protein kinase B signaling cascade; response to glucocorticoid stimulus; cellular response to growth factor stimulus; response to drug; negative regulation of apoptotic process; response to glucose stimulus; positive regulation of skeletal muscle tissue growth; response | 17q23.1 |
| RPS6KB2 | phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; protein kinase B signaling cascade; positive regulation of translational initiation; fibroblast growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; signal transduction; protein phosphorylation; translation | 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 | viral reproduction; cellular protein metabolic process; ribosomal small 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; translation; rRNA processing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 2p25 |
| RPS7P10 | - | 13q12.11 |
| RPS7P11 | - | 17q21.31 |
| RPS7P14 | - | Xq13.2 |
| RPS7P15 | - | 4p16.2 |
| RPS7P2 | - | 1q21 |
| RPS7P3 | - | 1q42.2 |
| RPS7P4 | - | 1p31.3 |
| RPS7P5 | - | 1q43 |
| RPS8 | 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; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 1p34.1-p32 |
| RPS8P10 | - | 15q11.2 |
| RPS8P3 | - | 18q21.2 |
| RPS8P4 | - | 10q26.11 |
| RPS8P6 | - | 3p26.1 |
| RPS8P7 | - | 5q35.3 |
| RPS9 | viral transcription; cellular protein metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translation; translational initiation; translational elongation; translational termination; regulation of translation; SRP-dependent cotranslational protein targeting to membrane; positive regulation of cell proliferation; viral infectious cycle; mRNA metabolic process; gene expression; viral reproduction; RNA metabolic process | 19q13.4 |
| RPS9P1 | - | 21q22.2 |
| RPS9P4 | - | 19q13.33 |
| RPSA | ribosomal small subunit assembly; cellular protein metabolic process; 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; viral infectious cycle; translational elongation; translational termination; SRP-dependent cotranslational protein targeting to membrane; cell adhesion; gene expression; viral reproduction; RNA metabolic process; translational initiation; translation; viral transcription; rRNA export from nucleus; mRNA 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 | positive regulation of endothelial cell proliferation; cell cycle arrest; insulin receptor signaling pathway; regulation of cell size; cell growth; cellular response to nutrient levels; cellular response to amino acid stimulus; positive regulation of protein serine/threonine kinase activity; TOR signaling cascade; positive regulation of TOR signaling cascade; regulation of phosphorylation; positive regulation of transcription from RNA polymerase III promoter | 17q25.3 |
| RPUSD1 | pseudouridine synthesis | 16p13.3 |
| RPUSD2 | pseudouridine synthesis | 15q13.3 |
| RPUSD3 | pseudouridine synthesis | 3p25.3 |
| RPUSD4 | pseudouridine synthesis | 11q24.2 |
| RQCD1 | RNA metabolic process; gene expression; sex differentiation; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA poly(A) tail shortening; regulation of transcription, DNA-dependent; 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 | cellular protein localization; cell death; virus-host interaction; positive regulation of TOR signaling cascade; apoptotic process; cellular response to amino acid stimulus; interspecies interaction between organisms; positive regulation of cytolysis | 9p22.1 |
| RRAGB | positive regulation of TOR signaling cascade; signal transduction; cellular response to amino acid stimulus; cellular protein localization | Xp11.21 |
| RRAGC | transcription, DNA-dependent; cellular response to amino acid stimulus; cellular protein localization; positive regulation of TOR signaling cascade; cell growth; RNA splicing; small GTPase mediated signal transduction; apoptotic process; GTP catabolic process | 1p34 |
| RRAGD | cellular response to amino acid stimulus; cellular protein localization; positive regulation of TOR signaling cascade | 6q15-q16 |
| RRAS | synaptic transmission; axon guidance; negative regulation of cell migration; signal transduction; Ras protein signal transduction; GTP catabolic process | 19q13.3-qter |
| RRAS2 | Ras protein signal transduction; GTP catabolic process; signal transduction; cellular process; positive regulation of cell migration | 11p15.2 |
| RRBP1 | translation; signal transduction; protein transport | 20p12 |
| RREB1 | multicellular organismal development; positive regulation of transcription, DNA-dependent; Ras protein signal transduction; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 6p25 |
| RRH | G-protein coupled receptor signaling pathway; phototransduction; response to stimulus; protein-chromophore linkage; visual perception | 4q25 |
| RRM1 | DNA replication; deoxyribonucleotide biosynthetic process; nucleobase-containing small molecule interconversion; small molecule metabolic process; protein oligomerization; protein heterotetramerization; nucleobase-containing small molecule metabolic process | 11p15.5 |
| RRM2 | mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; deoxyribonucleotide biosynthetic process; deoxyribonucleoside diphosphate metabolic process; nucleobase-containing small molecule interconversion; small molecule metabolic process; protein oligomerization; protein heterotetramerization; nucleobase-containing small molecule metabolic process; DNA replication | 2p25-p24 |
| RRM2B | deoxyribonucleoside diphosphate metabolic process; nucleobase-containing small molecule interconversion; renal system process; DNA replication; mitochondrial DNA replication; negative regulation of apoptotic process; DNA repair; response to oxidative stress; nucleobase-containing small molecule metabolic process; deoxyribonucleoside triphosphate metabolic process; small molecule metabolic process; kidney development; deoxyribonucleotide biosynthetic process | 8q23.1 |
| RRM2P3 | - | Xp11.4 |
| RRN3 | regulation of transcription, DNA-dependent; transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; gene expression | 16p12 |
| RRN3P1 | - | 16p12.2 |
| RRN3P2 | - | 16p11.2 |
| RRN3P3 | - | 16p12.2 |
| RRNAD1 | - | 1q23.1 |
| RRP1 | rRNA processing | 21q22.3 |
| RRP12 | - | 10q24.1 |
| RRP15 | - | 1q41 |
| RRP1B | rRNA processing; negative regulation of phosphatase activity | 21q22.3 |
| RRP36 | rRNA processing; ribosomal small subunit biogenesis | 6p21.1 |
| RRP7A | - | 22q13.2 |
| RRP7BP | - | 22q13.2 |
| RRP8 | regulation of transcription, DNA-dependent; signal transduction by p53 class mediator resulting in induction of apoptosis; chromatin silencing at rDNA; cellular response to glucose starvation; positive regulation of cell cycle arrest; regulation of transcription by glucose; rRNA processing; chromatin modification | 11p15.4 |
| RRP9 | rRNA processing | 3p21.2 |
| RRS1 | ribosome biogenesis; mitotic metaphase plate congression | 8q13.1 |
| RS1 | response to stimulus; visual perception; multicellular organismal development; cell adhesion | Xp22.13 |
| RSAD1 | porphyrin-containing compound biosynthetic process | 17q21.33 |
| RSAD2 | regulation of ossification; defense response to virus | 2p25.2 |
| RSBN1 | - | 1p13.2 |
| RSBN1L | - | 7q11.23 |
| RSC1A1 | regulation of transcription, DNA-dependent; transport; intestinal absorption; negative regulation of transport | 1p36.1 |
| RSF1 | nucleosome positioning; CenH3-containing nucleosome assembly at centromere; negative regulation of DNA binding; transcription initiation, DNA-dependent; chromatin remodeling; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of viral transcription; nucleosome assembly | 11q14.1 |
| RSG1 | cilium assembly; cellular protein localization; regulation of vesicle fusion; cell projection organization; regulation of exocytosis; protein transport; small GTPase mediated signal transduction | 1p36.13 |
| RSL1D1 | regulation of protein localization; translation | 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 movement; cilium axoneme assembly | 6q22.1 |
| RSPH6A | - | 19q13.3 |
| RSPH9 | cilium axoneme assembly; cilium movement | 6p21.1 |
| RSPO1 | positive regulation of canonical Wnt receptor signaling pathway; regulation of receptor internalization; response to stimulus | 1p34.3 |
| RSPO2 | positive regulation of canonical Wnt receptor signaling pathway; trachea cartilage morphogenesis; epithelial tube branching involved in lung morphogenesis; lung growth; response to stimulus; embryonic hindlimb morphogenesis; embryonic forelimb morphogenesis; bone mineralization; Wnt receptor signaling pathway; osteoblast differentiation | 8q23.1 |
| RSPO3 | canonical Wnt receptor signaling pathway; response to stimulus; branching involved in embryonic placenta morphogenesis | 6q22.33 |
| RSPO4 | Wnt receptor signaling pathway; response to stimulus | 20p13 |
| RSPRY1 | - | 16q13 |
| RSRC1 | alternative nuclear mRNA splicing, via spliceosome; nuclear mRNA splicing, via spliceosome; RNA splicing; protein phosphorylation; response to antibiotic; nucleocytoplasmic transport | 3q25.32 |
| RSRC2 | - | 12q24.31 |
| RSRP1 | - | 1p36.13-p35.1 |
| RSU1 | cell junction assembly; Ras protein signal transduction; signal transduction | 10p13 |
| RSU1P1 | - | 10q11.21 |
| RSU1P2 | - | 10q11.21 |
| RSU1P3 | - | - |
| RTBDN | - | 19p12 |
| RTCA | RNA processing | 1p21.2 |
| RTCB | - | 22q12 |
| RTEL1 | nucleobase-containing compound metabolic process; DNA repair; regulation of double-strand break repair via homologous recombination; telomere maintenance | 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; apoptotic process; signal transduction | 2p13.1 |
| RTKN2 | signal transduction; positive regulation of cell proliferation; hemopoiesis | 10q21.2 |
| RTL1 | multicellular organismal development | 14q32.2 |
| RTN1 | neuron differentiation; signal transduction | 14q23.1 |
| RTN2 | signal transduction | 19q13.32 |
| RTN3 | endoplasmic reticulum tubular network organization; interspecies interaction between organisms; vesicle-mediated transport; response to stress; apoptotic process | 11q13 |
| RTN3P1 | - | 4q31.21 |
| RTN4 | negative regulation of anti-apoptosis; olfactory nerve development; cerebral cortex radial glia guided migration; negative regulation of neuron projection regeneration; negative regulation of cell growth; response to activity; regulation of cell migration; aging; axonal fasciculation; apoptotic process; angiogenesis; negative regulation of axon extension; regulation of sensory perception of pain; positive regulation of dopamine secretion; regulation of apoptotic process; negative regulation of neuron differentiation; negative regulation of axonogenesis; oligodendrocyte differentiation; regulation of axonogenesis; endoplasmic reticulum tubular network organization; regulation of branching morphogenesis of a nerve; cardiac epithelial to mesenchymal transition; positive regulation of glial cell differentiation; nerve growth factor receptor signaling pathway; regulation of axon regeneration | 2p16.3 |
| RTN4IP1 | - | 6q21 |
| RTN4R | regulation of axonogenesis; nerve growth factor receptor signaling pathway; axonogenesis; negative regulation of 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 | detection of chemical stimulus involved in sensory perception of bitter taste; protein targeting to membrane | 3q27.3 |
| RTP5 | - | 2q37.3 |
| RTTN | multicellular organismal development; determination of left/right symmetry | 18q22.2 |
| RUBCN | negative regulation of endocytosis; negative regulation of autophagy | 3q29 |
| RUFY1 | protein transport; endocytosis | 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 | hemopoietic stem cell proliferation; peripheral nervous system neuron development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of angiogenesis; positive regulation of granulocyte differentiation; negative regulation of granulocyte differentiation; myeloid cell differentiation; hemopoiesis | 21q22.3 |
| RUNX1-IT1 | - | 21q22.12 |
| RUNX1T1 | regulation of transcription, DNA-dependent; regulation of DNA binding; fat cell differentiation; generation of precursor metabolites and energy | 8q22 |
| RUNX2 | negative regulation of transcription, DNA-dependent; ossification; osteoblast differentiation; regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 6p21 |
| RUNX3 | regulation of transcription, DNA-dependent; protein phosphorylation; induction of apoptosis; negative regulation of cell cycle; peripheral nervous system neuron development; negative regulation of epithelial cell proliferation; transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter | 1p36 |
| RUSC1 | - | 1q21-q22 |
| RUSC1-AS1 | - | 1q22 |
| RUSC2 | - | 9p13.3 |
| RUVBL1 | cell division; DNA repair; DNA recombination; nucleosome assembly; regulation of transcription from RNA polymerase II promoter; cell cycle; mitosis; spermatogenesis; chromatin modification; DNA duplex unwinding; CenH3-containing nucleosome assembly at centromere; regulation of growth; histone H4 acetylation; histone H2A acetylation | 3q21 |
| RUVBL2 | histone H4 acetylation; regulation of growth; cellular response to UV; DNA duplex unwinding; chromatin modification; protein folding; regulation of transcription, DNA-dependent; DNA recombination; DNA repair; ATP catabolic process; histone H2A acetylation | 19q13.3 |
| RWDD1 | - | 6q13-q22.33 |
| RWDD2A | - | 6q14.2 |
| RWDD2B | - | 21q22.11 |
| RWDD3 | - | 1p21.3 |
| RWDD4 | - | 4q35.1 |
| RXFP1 | cell differentiation; nipple morphogenesis; lung connective tissue development; extracellular matrix organization; G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; parturition | 4q32.1 |
| RXFP2 | positive regulation of cAMP biosynthetic process; negative regulation of apoptotic process; signal transduction; male gonad development; oocyte maturation; activation of adenylate cyclase activity by G-protein signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; negative regulation of cell proliferation | 13q13.1 |
| RXFP3 | G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger | 5p15.1-p14 |
| RXRA | secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development; negative regulation of transcription from RNA polymerase II promoter; liver development; positive regulation of transcription from RNA polymerase II promoter; gene expression; response to organic cyclic compound; virus-host interaction; axon regeneration; vitamin metabolic process; placenta development; ventricular cardiac muscle cell differentiation; ventricular cardiac muscle tissue morphogenesis; response to glucocorticoid stimulus; retinoic acid receptor signaling pathway; cardiac muscle cell proliferation; response to ethanol; interspecies interaction between organisms; small molecule metabolic process; cellular lipid metabolic process; positive regulation of apoptotic process; peroxisome proliferator activated receptor signaling pathway; response to vitamin D; response to retinoic acid; cellular response to insulin stimulus; negative regulation of cell proliferation; response to selenium ion; fe | 9q34.3 |
| RXRB | intracellular receptor mediated signaling pathway; gene expression; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; retinoic acid receptor signaling pathway; ventricular cardiac muscle cell differentiation; cellular response to retinoic acid; cardiac muscle cell proliferation | 6p21.3 |
| RXRG | peripheral nervous system development; gene expression; response to organic cyclic compound; heart development; skeletal muscle tissue development; retinoic acid receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; cellular response to hormone stimulus; response to retinoic acid; neuron differentiation | 1q22-q23 |
| RYBP | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; apoptotic process; multicellular organismal development; histone H2A monoubiquitination | 3p13 |
| RYK | 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; neuron differentiation; corpus callosum development; Wnt receptor signaling pathway; axon guidance; signal transduction; protein phosphorylation | 3q22 |
| RYKP1 | - | 17p13.2 |
| RYR1 | calcium ion transmembrane transport; cellular response to caffeine; transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; cytosolic calcium ion homeostasis; release of sequestered calcium ion into cytosol; skeletal muscle fiber development; 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; ion transport; outflow tract morphogenesis; response to hypoxia | 19q13.1 |
| RYR2 | response to hypoxia; cellular response to caffeine; calcium ion transmembrane transport; sarcoplasmic reticulum calcium ion transport; canonical Wnt receptor signaling pathway; embryonic heart tube morphogenesis; detection of calcium ion; ion transport; calcium ion transport; cellular calcium ion homeostasis; multicellular organismal development; induction of apoptosis by ionic changes; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; calcium-mediated signaling; BMP signaling pathway; response to caffeine; release of sequestered calcium ion into cytosol; cytosolic calcium ion homeostasis; response to redox state; transmembrane transport; cardiac muscle contraction; calcium ion transport into cytosol | 1q43 |
| RYR3 | transmembrane transport; ion transport; calcium ion transport; cellular response to ATP; cellular response to caffeine; cellular response to magnesium ion; cellular response to calcium ion; calcium ion transmembrane transport; cellular calcium ion homeostasis; protein homotetramerization; striated muscle contraction | 15q14-q15 |
| S100A1 | regulation of heart contraction; negative regulation of transcription from RNA polymerase II promoter; intracellular signal transduction | 1q21 |
| S100A10 | positive regulation of binding; cellular response to acid; signal transduction | 1q21 |
| S100A11 | negative regulation of cell proliferation; signal transduction; negative regulation of DNA replication | 1q21 |
| S100A11P1 | - | 7q22.1 |
| S100A11P2 | - | 7p14.2 |
| S100A12 | xenobiotic metabolic process; defense response to fungus; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; defense response to bacterium; killing of cells of other organism; inflammatory response | 1q21 |
| S100A13 | 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; response to electrical stimulus | 1q21 |
| S100A14 | response to lipopolysaccharide; positive regulation of monocyte chemotaxis; positive regulation of granulocyte chemotaxis; calcium ion homeostasis; defense response to bacterium; toll-like receptor 4 signaling pathway | 1q21.3 |
| S100A16 | response to calcium ion | 1q21 |
| S100A2 | endothelial cell migration | 1q21 |
| S100A3 | - | 1q21 |
| S100A4 | positive regulation of I-kappaB kinase/NF-kappaB cascade; epithelial to mesenchymal transition | 1q21 |
| S100A5 | - | 1q21 |
| S100A6 | signal transduction; axonogenesis; positive regulation of fibroblast proliferation | 1q21 |
| S100A7A | - | 1q21.3 |
| S100A7P2 | - | 1q21.3 |
| S100A8 | inflammatory response; response to ethanol; wound healing; response to lipopolysaccharide; response to zinc ion; chemotaxis; chronic inflammatory response; acute inflammatory response | 1q21 |
| S100A9 | regulation of integrin biosynthetic process; leukocyte chemotaxis; actin cytoskeleton reorganization; response to zinc ion; cell-cell signaling; response to lipopolysaccharide; signal transduction; response to ethanol; inflammatory response; chemotaxis; chronic inflammatory response | 1q21 |
| S100B | positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; cell proliferation; regulation of neuronal synaptic plasticity; memory; learning or memory; axonogenesis; central nervous system development | 21q22.3 |
| S100G | - | Xp22.2 |
| S100P | endothelial cell migration; response to organic substance | 4p16 |
| S100PBP | - | 1p35.1 |
| S100Z | - | 5q13.3 |
| S1PR1 | positive regulation of smooth muscle cell proliferation; negative regulation of stress fiber assembly; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; positive regulation of positive chemotaxis; positive regulation of transcription from RNA polymerase II promoter; endothelial cell differentiation; positive regulation of Ras GTPase activity; 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 | 1p21 |
| S1PR2 | activation of MAPK activity; G-protein coupled receptor signaling pathway; behavior; positive regulation of cell proliferation | 19p13.2 |
| S1PR3 | regulation of interleukin-1 beta production; cytokine production; inflammatory response; inhibition of adenylate cyclase activity by G-protein signaling pathway; elevation of cytosolic calcium ion concentration; positive regulation of cell proliferation; anatomical structure morphogenesis; G-protein coupled receptor signaling pathway | 9q22.1-q22.2 |
| S1PR4 | immune response; G-protein coupled receptor signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; activation of phospholipase C activity; elevation of cytosolic calcium ion concentration | 19p13.3 |
| S1PR5 | - | 19p13.2 |
| SAA1 | positive regulation of interleukin-1 secretion; negative regulation of inflammatory response; positive regulation of cytokine secretion; regulation of protein secretion; lymphocyte chemotaxis; macrophage chemotaxis; positive regulation of cell adhesion; innate immune response; neutrophil chemotaxis; platelet activation; 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 | cell death; negative regulation of inclusion body assembly; protein folding | 13q12 |
| SAE1 | protein modification process; protein ubiquitination; protein sumoylation; positive regulation of catalytic activity | 19q13.32 |
| SAFB | chromatin organization; regulation of transcription, DNA-dependent; intracellular estrogen receptor signaling pathway; growth; hormone metabolic process; positive regulation of transcription from RNA polymerase II promoter | 19p13.3-p13.2 |
| SAFB2 | regulation of transcription, DNA-dependent | 19p13.3 |
| SAG | signal transduction; response to stimulus; rhodopsin mediated signaling pathway; rhodopsin mediated phototransduction; visual perception; cell surface receptor signaling pathway | 2q37.1 |
| SAGE1 | - | Xq26 |
| SALL1 | ureteric bud development; kidney development; branching involved in ureteric bud morphogenesis; regulation of neural precursor cell proliferation; forelimb morphogenesis; ureteric bud invasion; kidney epithelium development; olfactory bulb mitral cell layer development; limb development; embryonic digestive tract 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 smoothened signaling pathway; positive regulation of neuron differentiation; embryonic digit morphogenesis; outer ear morphogenesis; hindlimb morphogenesis; neural tube closure; inductive cell-cell signaling; adrenal gland development; positive regulation of Wnt receptor signaling pathway; pituitary gland development; neural tube development; olfactory bulb interneuron differentiation; olfactory nerve development; histone deacetylation; gonad development; heart development; regulation of tran | 16q12.1 |
| SALL1P1 | - | Xp11.23 |
| SALL2 | neural tube development; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 14q11.1-q12 |
| SALL3 | regulation of transcription, DNA-dependent | 18q23 |
| SALL4 | negative regulation of transcription from RNA polymerase II promoter; in utero embryonic development; inner cell mass cell proliferation; neural tube closure; ventricular septum development; regulation of transcription, DNA-dependent; heart development; tissue development; neural tube development; embryonic limb morphogenesis; positive regulation of transcription from RNA polymerase II promoter | 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; sphingolipid metabolic process; lipid 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 adaptive immune response; negative regulation of peptidyl-tyrosine phosphorylation; negative regulation of B cell activation | 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 | induction of apoptosis; apoptotic process; regulation of transcription, DNA-dependent | 17q25.1 |
| SAP30L | regulation of transcription, DNA-dependent | 5q33.2 |
| SAPCD1 | - | 6p21.33 |
| SAPCD2 | - | 9q34.3 |
| SAR1A | GTP catabolic process; intracellular protein transport; ER to Golgi vesicle-mediated transport; vesicle-mediated transport | 10q22.1 |
| SAR1AP2 | - | 10q26.2 |
| SAR1AP3 | - | 4q27 |
| SAR1B | cellular protein metabolic process; COPII vesicle coating; antigen processing and presentation of peptide antigen via MHC class I; GTP catabolic process; intracellular protein transport; ER to Golgi vesicle-mediated transport; cellular membrane organization; vesicle-mediated transport; protein N-linked glycosylation via asparagine; post-translational protein modification | 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 | gene expression; tRNA processing; seryl-tRNA aminoacylation; tRNA aminoacylation for protein translation; translation | 1p13.3 |
| SARS2 | gene expression; seryl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 19q13.2 |
| SART1 | induction of apoptosis by intracellular signals; positive regulation of cytotoxic T cell differentiation; RNA splicing; cell cycle arrest; nuclear mRNA splicing, via spliceosome; spliceosomal snRNP assembly | 11q13.1 |
| SART3 | RNA processing | 12q24.1 |
| SASH1 | - | 6q24.3 |
| SASH3 | positive regulation of immunoglobulin production; positive regulation of lymphocyte activation; positive regulation of T cell cytokine production; positive regulation of adaptive immune response; positive regulation of B cell proliferation; positive regulation of interferon-gamma production; positive regulation of interleukin-10 production; positive regulation of interleukin-2 production; positive regulation of interleukin-4 production; positive regulation of tumor necrosis factor production; positive regulation of T cell proliferation; positive regulation of CD4-positive, alpha-beta T cell differentiation; positive regulation of organ growth; homeostasis of number of cells within a tissue | Xq26 |
| SASS6 | centrosome duplication; centriole replication; cell cycle | 1p21.2 |
| SAT1 | small molecule metabolic process; regulation of cell proliferation; polyamine biosynthetic process; cellular nitrogen compound metabolic process; angiogenesis; polyamine metabolic process | Xp22.1 |
| SAT2 | - | 17p13.1 |
| SATB1 | negative regulation of transcription from RNA polymerase II promoter; chromatin organization; apoptotic process; cellular component disassembly involved in apoptosis; chromatin modification; interspecies interaction between organisms | 3p23 |
| SATB2 | palate development; negative regulation of transcription from RNA polymerase II promoter; neuron migration; osteoblast development; chromatin remodeling; cartilage development; multicellular organismal development; embryonic pattern specification; embryonic skeletal system morphogenesis; positive regulation of transcription from RNA polymerase II promoter | 2q33 |
| SATL1 | - | Xq21.1 |
| SAV1 | lung epithelial cell differentiation; positive regulation of apoptotic process; hippo signaling cascade; hair follicle development; signal transduction; regulation of stem cell maintenance; keratinocyte differentiation; regulation of organ growth; negative regulation of epithelial cell proliferation; intestinal epithelial cell differentiation; negative regulation of cardiac muscle cell proliferation; ventricular septum morphogenesis | 14q13-q23 |
| SAXO1 | - | 9p22.1 |
| SAXO2 | - | 15q25.2 |
| SAYSD1 | - | 6p21.2 |
| SBDS | rRNA processing; inner cell mass cell proliferation; bone marrow development; cell proliferation; mitotic spindle stabilization; ribosomal large subunit biogenesis; bone mineralization; leukocyte chemotaxis; mature ribosome assembly | 7q11.21 |
| SBDSP1 | - | 7q11.23 |
| SBF1 | protein dephosphorylation | 22q13.33 |
| SBF1P1 | - | 8q12.1 |
| SBF2 | myelination; protein tetramerization; regulation of catalytic activity | 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; macrophage activation involved in immune response; negative regulation of transcription, DNA-dependent | 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 | spliceosome assembly; RNA splicing, via transesterification reactions; RNA splicing; mRNA processing | 12q12 |
| SCAF4 | mRNA processing | 21q22.1 |
| SCAF8 | transcription from RNA polymerase II promoter; RNA splicing; mRNA processing | 6q25.1-q25.3 |
| SCAI | regulation of transcription, DNA-dependent; negative regulation of Rho protein signal transduction; negative regulation of cell migration; negative regulation of signal transduction | 9q33.3 |
| SCAMP1 | post-Golgi vesicle-mediated transport; protein transport | 5q14.1 |
| SCAMP2 | post-Golgi vesicle-mediated transport; protein transport | 15q23-q25 |
| SCAMP3 | response to retinoic acid; response to chemical stimulus; protein transport; endocytosis; post-Golgi vesicle-mediated transport | 1q21 |
| SCAMP4 | protein transport | 19p13.3 |
| SCAMP5 | positive regulation of cytokine secretion; response to endoplasmic reticulum stress; positive regulation of calcium ion-dependent exocytosis; protein transport; negative regulation of endocytosis; exocytosis | 15q24.2 |
| SCAND1 | regulation of transcription, DNA-dependent; viral reproduction | 20q11.1-q11.23 |
| SCAND2P | - | 15q25.2 |
| SCAP | response to hypoxia; positive regulation of low-density lipoprotein particle receptor biosynthetic process; negative regulation of cholesterol biosynthetic process; regulation of fatty acid biosynthetic process; response to insulin stimulus; cholesterol metabolic process; positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway; steroid metabolic process; aging | 3p21.31 |
| SCAPER | - | 15q24 |
| SCARA3 | response to oxidative stress; UV protection | 8p21 |
| SCARA5 | endocytosis; protein homotrimerization; iron ion transmembrane transport; cellular response to heat; ion transport; cellular iron ion homeostasis | 8p21.1 |
| SCARB1 | endothelial cell proliferation; lipid metabolic process; androgen biosynthetic process; blood vessel endothelial cell migration; cholesterol catabolic process; cholesterol homeostasis; lipoprotein metabolic process; wound healing; high-density lipoprotein particle clearance; low-density lipoprotein particle clearance; recognition of apoptotic cell; high-density lipoprotein particle remodeling; transport; cell adhesion; positive regulation of endothelial cell migration; positive regulation of triglyceride biosynthetic process; positive regulation of cholesterol storage; regulation of phosphatidylcholine catabolic process; phospholipid transport; lipopolysaccharide transport; lipopolysaccharide-mediated signaling pathway; detection of lipopolysaccharide; cholesterol efflux; small molecule metabolic process; interspecies interaction between organisms; regulation of phagocytosis; positive regulation of nitric-oxide synthase activity; adhesion to symbiont; triglyceride homeostasis; cholesterol import; reverse chol | 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; neuron remodeling; dendrite development; positive regulation of axon regeneration | 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 | oxidation-reduction process; fatty acid biosynthetic process | 4q21.22 |
| SCDP1 | - | 17p11.2 |
| SCEL | epidermis development; embryo development; keratinocyte differentiation | 13q22 |
| SCFD1 | response to hypoxia; regulation of ER to Golgi vesicle-mediated transport; vesicle-mediated transport; protein transport; response to toxin; vesicle docking involved in exocytosis; post-Golgi vesicle-mediated transport; retrograde vesicle-mediated transport, Golgi to ER | 14q12 |
| SCFD2 | vesicle-mediated transport; protein transport; vesicle docking involved in exocytosis | 4q12 |
| SCG2 | endothelial cell migration; negative regulation of apoptotic process; intracellular signal transduction; protein secretion; eosinophil chemotaxis; inflammatory response; cellular component movement; positive regulation of endothelial cell proliferation; negative regulation of endothelial cell proliferation; angiogenesis; MAPK cascade; positive chemotaxis; induction of positive chemotaxis | 2q35-q36 |
| SCG3 | platelet degranulation; blood coagulation; platelet activation | 15q21 |
| SCG5 | peptide hormone processing; negative regulation of catalytic activity; regulation of hormone secretion; intracellular protein transport; transport; neuropeptide signaling pathway | 15q13-q14 |
| SCGB1A1 | embryo implantation; regulation of inflammatory response; regulation of mRNA stability; negative regulation of T cell proliferation; negative regulation of interleukin-5 production; negative regulation of interleukin-4 production; negative regulation of interleukin-13 production; negative regulation of interferon-gamma production; negative regulation of transcription from RNA polymerase II promoter; signal transduction; female pregnancy | 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 | actin filament capping; negative regulation of cell proliferation; calcium ion-dependent exocytosis; positive regulation of apoptotic process; actin nucleation; positive regulation of megakaryocyte differentiation; positive regulation of secretion; actin filament severing; regulation of chondrocyte differentiation | 7p21.3 |
| SCLY | cellular amino acid metabolic process | 2q37.3 |
| SCMH1 | regulation of transcription, DNA-dependent; multicellular organismal development; anatomical structure morphogenesis; gene silencing; negative regulation of transcription, DNA-dependent | 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 | ion transport; transmembrane transport; sensory perception; sodium ion transport | 3p22.2 |
| SCN11A | ion transport; sodium ion transport; response to drug; transmembrane transport | 3p22.2 |
| SCN1A | ion transport; sodium ion transport; adult walking behavior; transmembrane transport; neuromuscular process controlling posture; neuronal action potential propagation; regulation of action potential in neuron | 2q24.3 |
| SCN1B | regulation of membrane depolarization; positive regulation of sodium ion transport via voltage-gated sodium channel activity; membrane depolarization; positive regulation of action potential; sodium ion transmembrane transport; axon guidance; synaptic transmission; sodium ion transport; ion transport | 19q13.1 |
| SCN2A | ion transport; sodium ion transport; apoptotic process; nervous system development; myelination; transmembrane transport | 2q24.3 |
| SCN2B | ion transport; sodium ion transport; nervous system development; response to pyrethroid; positive regulation of sodium ion transport via voltage-gated sodium channel activity; synaptic transmission | 11q23 |
| SCN3A | ion transport; sodium ion transport; transmembrane transport | 2q24 |
| SCN3B | axon guidance; positive regulation of action potential; membrane depolarization; positive regulation of sodium ion transport via voltage-gated sodium channel activity; sensory perception of pain; ion transport; sodium ion transport; nervous system development | 11q23.3 |
| SCN4A | ion transport; sodium ion transport; muscle contraction; transmembrane transport | 17q23.3 |
| SCN4B | sodium ion transport; positive regulation of sodium ion transport via voltage-gated sodium channel activity; ion transport | 11q23.3 |
| SCN5A | regulation of heart rate; ion transport; sodium ion transport; blood circulation; sodium ion transmembrane transport; positive regulation of action potential; regulation of ventricular cardiomyocyte membrane repolarization; regulation of cardiac muscle contraction; membrane depolarization; transmembrane transport; regulation of atrial cardiomyocyte membrane depolarization; regulation of atrial cardiomyocyte membrane repolarization; regulation of ventricular cardiomyocyte membrane depolarization; positive regulation of cardiac muscle contraction; cardiac conduction; cellular response to calcium ion | 3p21 |
| SCN7A | transmembrane transport; ion transport; sodium ion transport; muscle contraction | 2q21-q23 |
| SCN8A | locomotory behavior; muscle organ development; peripheral nervous system development; axon guidance; nervous system development; sodium ion transport; ion transport; transmembrane transport; myelination; response to toxin; adult walking behavior | 12q13 |
| SCN9A | transmembrane transport; sodium ion transport; ion transport | 2q24 |
| SCNM1 | RNA splicing; mRNA processing | 1q21.3 |
| SCNN1A | excretion; response to stimulus; sodium ion transport; ion transport; sensory perception of taste | 12p13 |
| SCNN1B | sensory perception of taste; response to stimulus; wound healing, spreading of epidermal cells; excretion; response to hypoxia; sodium ion transport; ion transport; regulation of sodium ion transport | 16p12.2-p12.1 |
| SCNN1D | ion transport; sodium ion transport; sensory perception of taste; response to stimulus | 1p36.3-p36.2 |
| SCNN1G | response to hypoxia; sensory perception of taste; response to stimulus; sodium ion transmembrane transport; wound healing, spreading of epidermal cells; excretion; sodium ion transport; ion transport | 16p12 |
| SCO1 | generation of precursor metabolites and energy; copper ion transport; cellular copper ion homeostasis; respiratory chain complex IV assembly | 17p13.1 |
| SCO2 | cellular copper ion homeostasis; oxidation-reduction process; respiratory electron transport chain; response to activity; respiratory chain complex IV assembly; muscle system process; in utero embryonic development; copper ion transport | 22q13.33 |
| SCOC | - | 4q31.1 |
| SCOC-AS1 | - | 4q31.1 |
| SCOCP1 | - | - |
| SCP2 | cellular lipid metabolic process; small molecule metabolic process; bile acid biosynthetic process; transport; lipid transport; peroxisome organization; bile acid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase | 1p32 |
| SCP2D1 | - | 20p11.23 |
| SCPEP1 | retinoic acid metabolic process; proteolysis | 17q22 |
| SCRG1 | nervous system development | 4q34.1 |
| SCRIB | cell migration; positive chemotaxis; cell proliferation; negative regulation of mitotic cell cycle; cell-cell adhesion; mammary gland duct morphogenesis; interspecies interaction between organisms; positive regulation of apoptotic process; establishment of apical/basal cell polarity; activation of Rac GTPase activity; apoptosis involved in morphogenesis; cell differentiation; positive regulation of receptor recycling; neural tube closure; protein localization to adherens junction; multicellular organismal development | 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 | G-protein coupled receptor signaling pathway; digestion; excretion | 2q14.1 |
| SCUBE1 | blood coagulation; inflammatory response; adult heart development; post-embryonic development; endothelial cell differentiation; protein homooligomerization | 22q13 |
| SCUBE2 | - | 11p15.3 |
| SCUBE3 | protein heterooligomerization; protein homooligomerization | 6p21.3 |
| SCX | - | 8q24.3 |
| SCYL1 | vesicle-mediated transport; retrograde vesicle-mediated transport, Golgi to ER; regulation of transcription, DNA-dependent | 11q13 |
| SCYL2 | positive regulation of clathrin-mediated endocytosis; negative regulation of canonical Wnt receptor signaling pathway; endosome to lysosome transport; positive regulation of receptor internalization | 12q23.1 |
| SCYL3 | cell migration | 1q24.2 |
| SDAD1 | protein transport; ribosomal large subunit biogenesis | 4q21.1 |
| SDAD1P1 | - | 8p21.2 |
| SDAD1P2 | - | 20p12.2 |
| SDC1 | ureteric bud development; canonical Wnt receptor signaling pathway; lipid metabolic process; response to cAMP; response to glucocorticoid stimulus; myoblast development; small molecule metabolic process; response to calcium ion; striated muscle cell development; response to hydrogen peroxide; lipoprotein metabolic process; odontogenesis; Sertoli cell development; wound healing; response to toxin | 2p24.1 |
| SDC2 | response to hypoxia; response to caffeine; wound healing; dendrite morphogenesis | 8q22-q23 |
| SDC3 | cell adhesion | 1pter-p22.3 |
| SDC4 | ureteric bud development; positive regulation of protein kinase activity; positive regulation of stress fiber assembly; positive regulation of focal adhesion assembly | 20q12 |
| SDCBP | positive regulation of JNK cascade; positive regulation of phosphorylation; intracellular signal transduction; actin cytoskeleton organization; axon guidance; Ras protein signal transduction; substrate-dependent cell migration, cell extension; protein targeting to membrane; synaptic transmission | 8q12 |
| SDCBP2 | intracellular transport; nervous system development; intracellular signal transduction | 20p13 |
| SDCBP2-AS1 | - | - |
| SDCBPP1 | - | 10p15.1 |
| SDCBPP3 | - | Xp11.4 |
| SDCCAG3 | - | 9q34.3 |
| SDCCAG3P1 | - | 18q21.32 |
| SDCCAG8 | tube formation; establishment of cell polarity; mitotic cell cycle; G2/M transition of mitotic cell cycle | 1q43 |
| SDE2 | - | 1q42.12 |
| SDF2 | protein glycosylation | 17q11.2 |
| SDF2L1 | - | 22q11.21 |
| SDF4 | zymogen granule exocytosis; UV protection; response to ethanol; fat cell differentiation; cerebellum development; calcium ion-dependent exocytosis | 1p36.33 |
| SDHA | nervous system development; oxidation-reduction process; small molecule metabolic process; respiratory electron transport chain; transport; succinate metabolic process; tricarboxylic acid cycle | 5p15 |
| SDHAF1 | iron-sulfur cluster assembly; mitochondrial respiratory chain complex II assembly | 19q13.12 |
| SDHAF2 | protein-FAD linkage; mitochondrial electron transport, succinate to ubiquinone | 11q12.2 |
| SDHAF3 | regulation of gluconeogenesis | 7q21.3 |
| SDHAF4 | - | 6q13 |
| SDHAP1 | - | 3q29 |
| SDHAP3 | - | 5p15.33 |
| SDHB | tricarboxylic acid cycle; succinate metabolic process; transport; aerobic respiration; respiratory electron transport chain; small molecule metabolic process | 1p36.1-p35 |
| SDHC | oxidation-reduction process; tricarboxylic acid cycle; transport; aerobic respiration; respiratory electron transport chain; small molecule metabolic process | 1q23.3 |
| SDHCP2 | - | 10q23.32 |
| SDHD | small molecule metabolic process; respiratory electron transport chain; transport; tricarboxylic acid cycle | 11q23 |
| SDHDP3 | - | 3q26.3 |
| SDIM1 | negative regulation of cell death; neuron apoptosis; cellular response to stress | - |
| SDK1 | cell adhesion | 7p22.2 |
| SDK2 | cell adhesion | 17q25.1 |
| SDPR | - | 2q32-q33 |
| SDR16C5 | keratinocyte proliferation; retinal metabolic process; retinol metabolic process; 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 | cellular amino acid metabolic process; L-serine catabolic process; pyruvate biosynthetic process; gluconeogenesis | 12q24.13 |
| SDSL | cellular amino acid metabolic process | 12q24.13 |
| SEC11A | energy reserve metabolic process; translation; signal peptide processing; proteolysis; SRP-dependent cotranslational protein targeting to membrane; gene expression; cellular protein metabolic process; small molecule metabolic process; regulation of insulin secretion | 15q25.3 |
| SEC11B | proteolysis; signal peptide processing | 8q11.23 |
| SEC11C | translation; signal peptide processing; energy reserve metabolic process; proteolysis; SRP-dependent cotranslational protein targeting to membrane; gene expression; cellular protein metabolic process; small molecule metabolic process; regulation of insulin secretion | 18q21.32 |
| SEC13 | mitotic prometaphase; cellular protein metabolic process; 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; protein N-linked glycosylation via asparagine; M phase of mitotic cell cycle; post-translational protein modification; COPII vesicle coating; 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 | COPII vesicle coating; vesicle-mediated transport; protein transport | 9q34.3 |
| SEC16B | protein transport; vesicle-mediated transport; COPII vesicle coating | 1q25.2 |
| SEC1P | - | 19q13.33 |
| SEC22A | vesicle-mediated transport; protein transport; ER to Golgi vesicle-mediated transport | 3q21.1 |
| SEC22B | ER to Golgi vesicle-mediated transport; protein transport; vesicle-mediated transport | 1q21.1 |
| SEC22C | ER to Golgi vesicle-mediated transport; protein transport; vesicle-mediated transport | 3p22.1 |
| SEC23A | post-translational protein modification; cellular protein metabolic process; COPII vesicle coating; protein N-linked glycosylation via asparagine; 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 | 14q21.1 |
| SEC23B | intracellular protein transport; vesicle-mediated transport; ER to Golgi vesicle-mediated transport | 20p11.23 |
| SEC23IP | Golgi organization; intracellular protein transport | 10q25-q26 |
| SEC24A | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; cellular membrane organization; ER to Golgi vesicle-mediated transport; intracellular protein transport; antigen processing and presentation of peptide antigen via MHC class I; vesicle-mediated transport; COPII vesicle coating | 5q31.1 |
| SEC24B | 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 | 4q25 |
| SEC24B-AS1 | - | 4q25 |
| SEC24C | COPII vesicle coating; antigen processing and presentation of peptide antigen via MHC class I; 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 | 10q22.2 |
| SEC24D | COPII vesicle coating; cellular protein metabolic process; post-translational protein modification; 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; protein N-linked glycosylation via asparagine | 4q26 |
| SEC31A | endoplasmic reticulum unfolded protein response; antigen processing and presentation of peptide antigen via MHC class I; response to calcium ion; ER to Golgi vesicle-mediated transport; protein transport; cellular membrane organization; vesicle-mediated transport; protein N-linked glycosylation via asparagine; COPII vesicle coating; post-translational protein modification; activation of signaling protein activity involved in unfolded protein response; cellular protein metabolic process | 4q21.22 |
| SEC31B | protein transport; vesicle-mediated transport | 10q24.31 |
| SEC61A1 | 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 transport; response to interferon-gamma; antigen processing and presentation of exogenous peptide antigen via MHC class I; protein targeting to ER | 3q21.3 |
| SEC61A2 | protein transport; 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 | 10p14 |
| SEC61B | antigen processing and presentation of peptide antigen via MHC class I; translation; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; protein import into nucleus, translocation; cellular protein metabolic process; SRP-dependent cotranslational protein targeting to membrane; antigen processing and presentation of exogenous peptide antigen via MHC class I; retrograde protein transport, ER to cytosol; ER-associated protein catabolic process; protein transport; gene expression | 9q22.32-q31.3 |
| SEC61G | gene expression; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular protein metabolic process; antigen processing and presentation of peptide antigen via MHC class I; protein targeting to ER; SRP-dependent cotranslational protein targeting to membrane; translation; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent | 7p11.2 |
| SEC62 | cotranslational protein targeting to membrane | 3q26.2 |
| SEC63 | protein transport; protein folding; protein targeting to membrane | 6q21 |
| SEC63P1 | - | - |
| SEC63P2 | - | - |
| SECISBP2 | translation | 9q22.2 |
| SECISBP2L | - | 15q21.1 |
| SECTM1 | signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade; mesoderm development; immune response | 17q25 |
| SEH1L | attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation; protein transport; glucose transport; cytokine-mediated signaling pathway; viral reproduction; mitotic prometaphase; transmembrane transport; regulation of glucose transport; hexose transport; M phase of mitotic cell cycle; mitotic cell cycle; carbohydrate metabolic process; nuclear pore organization; chromosome segregation; small molecule metabolic process; mRNA transport; cell division; mitotic metaphase plate congression | 18p11.21 |
| SEL1L | Notch signaling pathway | 14q31 |
| SEL1L2 | - | 20p12.1 |
| SEL1L3 | - | 4p15.2 |
| SELE | positive regulation of receptor internalization; response to lipopolysaccharide; response to tumor necrosis factor; regulation of inflammatory response; leukocyte tethering or rolling; response to interleukin-1; 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; response to ATP; regulation of immune response; leukocyte migration | 1q23-q25 |
| SELM | - | 22q12.2 |
| SELO | - | 22q13.33 |
| SELP | response to organic cyclic compound; leukocyte tethering or rolling; leukocyte migration; defense response to Gram-negative bacterium; blood vessel morphogenesis; positive regulation of cell adhesion; response to lipopolysaccharide; platelet activation; positive regulation of platelet activation; blood coagulation; leukocyte cell-cell adhesion; heterophilic cell-cell adhesion; cell adhesion; inflammatory response; regulation of cellular extravasation; positive regulation of leukocyte migration; platelet degranulation | 1q22-q25 |
| SELPLG | leukocyte migration; cell adhesion; blood coagulation; cellular response to interleukin-6; leukocyte tethering or rolling | 12q24 |
| SELT | - | 3q25.1 |
| SELV | - | 19q13.2 |
| SEMA3A | regulation of axon extension involved in axon guidance; negative regulation of axon extension involved in axon guidance; sensory system development; sympathetic nervous system development; regulation of heart rate; cell differentiation; multicellular organismal development; apoptotic process; axon guidance; negative chemotaxis; axonal fasciculation; negative regulation of epithelial cell migration; nervous system development; dichotomous subdivision of terminal units involved in salivary gland branching; semaphorin-plexin signaling pathway | 7p12.1 |
| SEMA3B | cell-cell signaling; multicellular organismal development; axon guidance | 3p21.3 |
| SEMA3C | neural crest cell migration; heart development; limb bud formation; dichotomous subdivision of terminal units involved in salivary gland branching; post-embryonic development; neural tube development; response to drug; axon guidance; immune response; somitogenesis; cardiac right ventricle morphogenesis; pulmonary myocardium development; outflow tract morphogenesis; blood vessel remodeling | 7q21-q31 |
| SEMA3D | cell differentiation; nervous system development; multicellular organismal development | 7q21.11 |
| SEMA3E | synapse organization; negative regulation of cell-matrix adhesion; semaphorin-plexin signaling pathway; regulation of actin cytoskeleton reorganization; regulation of cell shape; negative regulation of angiogenesis; patterning of blood vessels; axon guidance; nervous system development; sprouting angiogenesis; multicellular organismal development; cell differentiation | 7q21.11 |
| SEMA3F | neural crest cell migration; multicellular organismal development; axon guidance; negative regulation of axon extension involved in axon guidance; negative chemotaxis | 3p21.3 |
| SEMA3G | multicellular organismal development | 3p21.1 |
| SEMA4A | cell differentiation; axon guidance; nervous system development; multicellular organismal development | 1q22 |
| SEMA4B | cell differentiation; nervous system development; multicellular organismal development | 15q25 |
| SEMA4C | muscle cell differentiation; neural tube closure; multicellular organismal development; nervous system development; cell migration in hindbrain; positive regulation of stress-activated MAPK cascade; semaphorin-plexin signaling pathway | 2q11.2 |
| SEMA4D | leukocyte aggregation; regulation of cell shape; negative regulation of alkaline phosphatase activity; 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; semaphorin-plexin signaling pathway; positive regulation of collateral sprouting; trabecula morphogenesis; negative regulation of peptidyl-tyrosine phosphorylation; positive regulation of peptidyl-tyrosine phosphorylation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of osteoblast differentiation; multicellular organismal development; regulation of dendrite morphogenesis; positive regulation of protein phosphorylation; nervous system development; axon guidance; anti-apoptosis; immune response; cell adhesion | 9q22.2 |
| SEMA4F | retinal ganglion cell axon guidance; cell-cell signaling; multicellular organismal development; nervous system development; axon guidance; cell differentiation; negative regulation of axon extension | 2p13.1 |
| SEMA4G | multicellular organismal development; nervous system development; cell differentiation | 10q24.31 |
| SEMA5A | cell-cell signaling; cell adhesion; patterning of blood vessels; cell differentiation; axon guidance; nervous system development; multicellular organismal development; signal transduction | 5p15.2 |
| SEMA5B | nervous system development; cell differentiation; multicellular organismal development | 3q21.1 |
| SEMA6A | centrosome localization; apoptotic process; cytoskeleton organization; cell surface receptor signaling pathway; multicellular organismal development; nervous system development; axon guidance; organ morphogenesis; 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; cell differentiation; axon guidance; nervous system development | 15q21.1 |
| SEMA7A | cell differentiation; positive regulation of ERK1 and ERK2 cascade; positive regulation of macrophage cytokine production; regulation of inflammatory response; positive regulation of axon extension; axon guidance; nervous system development; multicellular organismal development; integrin-mediated signaling pathway; immune response | 15q22.3-q23 |
| SENCR | - | - |
| SENP1 | activation of cysteine-type endopeptidase activity involved in apoptotic process; proteolysis; induction of apoptosis by extracellular signals; protein desumoylation | 12q13.1 |
| SENP2 | negative regulation of protein binding; positive regulation of protein phosphorylation; dorsal/ventral axis specification; proteolysis; regulation of Wnt receptor signaling pathway; protein transport; protein desumoylation; regulation of protein metabolic process; mRNA transport | 3q27.2 |
| SENP3 | proteolysis | 17p13 |
| SENP5 | cell cycle; proteolysis; cell division | 3q29 |
| SENP6 | proteolysis; protein desumoylation; protein modification by small protein removal; regulation of spindle assembly; regulation of kinetochore assembly | 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 | translation; oxidation-reduction process; selenocysteine incorporation | 4p15.2 |
| SEPT1 | cell division; cell cycle | 16p11.1 |
| SEPT10 | cell division; cell cycle | 2q13 |
| SEPT10P1 | - | 8q12.1 |
| SEPT11 | cell cycle; cell division; protein heterooligomerization | 4q21.1 |
| SEPT12 | cell division; cell cycle | 16p13.3 |
| SEPT14 | cell division; cell cycle | 7p11.2 |
| SEPT2 | cell cycle; cell division; regulation of protein localization; neuron projection development; mitosis; regulation of L-glutamate transport | 2q37 |
| SEPT3 | cytokinesis; cell cycle | 22q13.2 |
| SEPT4 | cell cycle; apoptotic process; brain development; sperm capacitation; positive regulation of intrinsic apoptotic signaling pathway; cytokinesis; GTP catabolic process; sperm mitochondrion organization; positive regulation of protein ubiquitination; regulation of apoptotic process; positive regulation of apoptotic process | 17q22 |
| SEPT5 | synaptic vesicle targeting; cell cycle; GTP catabolic process; cytokinesis; regulation of exocytosis | 22q11.21 |
| SEPT5-GP1BB | - | 22q |
| SEPT6 | cytokinesis; interspecies interaction between organisms; cell cycle | Xq24 |
| SEPT7 | regulation of embryonic cell shape; cilium morphogenesis; protein heterooligomerization; mitosis; cell cycle; cytokinesis | 7p14.2 |
| SEPT7P2 | - | 7p12.3 |
| SEPT7P5 | - | - |
| SEPT7P6 | - | - |
| SEPT7P7 | - | 9q22.33 |
| SEPT7P9 | - | 10p11.1 |
| SEPT8 | cell cycle | 5q31 |
| SEPT9 | cell division; protein heterooligomerization; cell cycle; GTP catabolic process | 17q25 |
| SEPW1 | cell redox homeostasis | 19q13.3 |
| SERAC1 | extracellular matrix organization; intracellular protein transport; GPI anchor metabolic process | 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 | negative regulation of protein secretion; signal transduction | 11p14.3 |
| SERHL2 | - | 22q13 |
| SERINC1 | phosphatidylserine metabolic process; positive regulation of transferase activity; L-serine transport; phospholipid biosynthetic process; sphingolipid metabolic process; lipid metabolic process | 6q22.31 |
| SERINC2 | - | 1p35.1 |
| SERINC3 | induction of apoptosis | 20q13.12 |
| SERINC4 | lipid metabolic process; phospholipid biosynthetic process | 15q15.3 |
| SERINC5 | lipid metabolic process; positive regulation of transferase activity; phospholipid biosynthetic process; phosphatidylserine metabolic process | 5q14.1 |
| SERP1 | plasma membrane organization; muscle organ morphogenesis; positive regulation of growth hormone secretion; multicellular organismal aging; post-embryonic development; activation of signaling protein activity involved in unfolded protein response; response to stress; protein glycosylation; protein modification process; glucose metabolic process; skeletal system development; positive regulation of organ growth; protein transport; positive regulation of insulin secretion; positive regulation of translation; endoplasmic reticulum unfolded protein response | 3q25.1 |
| SERP2 | protein transport | 13q14.11 |
| SERPINA1 | negative regulation of endopeptidase activity; acute-phase response; inflammatory response; blood coagulation; response to lead ion; response to estradiol stimulus; response to organic cyclic compound; regulation of proteolysis; platelet activation; response to lipopolysaccharide; response to methanol; response to triglyceride; response to cytokine stimulus; response to chromate; platelet degranulation; response to hypoxia | 14q32.1 |
| SERPINA10 | regulation of acrosome reaction; negative regulation of endopeptidase activity; tissue regeneration; regulation of proteolysis | 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 | maintenance of gastrointestinal epithelium; regulation of proteolysis; regulation of lipid metabolic process; negative regulation of endopeptidase activity; acute-phase response; inflammatory response | 14q32.1 |
| SERPINA4 | negative regulation of endopeptidase activity; regulation of proteolysis | 14q32.13 |
| SERPINA5 | regulation of proteolysis; negative regulation of endopeptidase activity; fusion of sperm to egg plasma membrane; spermatogenesis; lipid transport; transport | 14q32.1 |
| SERPINA6 | regulation of proteolysis; negative regulation of endopeptidase activity; glucocorticoid metabolic process; transport | 14q32.1 |
| SERPINA7 | response to prostaglandin E stimulus; response to steroid hormone stimulus; response to corticosterone stimulus; aging; post-embryonic development; response to vitamin A; regulation of proteolysis; response to drug; response to nutrient levels; response to peptide hormone stimulus; negative regulation of endopeptidase activity | Xq22.2 |
| SERPINA9 | negative regulation of endopeptidase activity; regulation of proteolysis | 14q32.13 |
| SERPINB1 | regulation of proteolysis; negative regulation of endopeptidase activity | 6p25 |
| SERPINB10 | negative regulation of proteolysis; regulation of proteolysis; negative regulation of endopeptidase activity | 18q21.3 |
| SERPINB11 | negative regulation of endopeptidase activity; regulation of proteolysis | - |
| SERPINB13 | response to UV; negative regulation of endopeptidase activity; regulation of proteolysis | 18q21.33 |
| SERPINB2 | blood coagulation; regulation of proteolysis; negative regulation of endopeptidase activity; anti-apoptosis; fibrinolysis | 18q21.3 |
| SERPINB3 | negative regulation of endopeptidase activity; regulation of proteolysis | 18q21.3 |
| SERPINB4 | negative regulation of endopeptidase activity; immune response; regulation of proteolysis | 18q21.3 |
| SERPINB5 | cellular component movement; negative regulation of endopeptidase activity; regulation of proteolysis; prostate gland morphogenesis; extracellular matrix organization; regulation of epithelial cell proliferation; morphogenesis of an epithelium | 18q21.33 |
| SERPINB6 | negative regulation of endopeptidase activity; regulation of proteolysis | 6p25 |
| SERPINB7 | regulation of proteolysis; negative regulation of endopeptidase activity | 18q21.33 |
| SERPINB8 | negative regulation of endopeptidase activity; regulation of proteolysis | 18q22.1 |
| SERPINB9 | anti-apoptosis; immune response; negative regulation of endopeptidase activity; regulation of proteolysis; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; cellular response to estrogen stimulus; mast cell mediated immunity | 6p25 |
| SERPINB9P1 | - | 6p25.2 |
| SERPINC1 | blood coagulation; negative regulation of inflammatory response; regulation of proteolysis; negative regulation of endopeptidase activity; response to nutrient | 1q25.1 |
| SERPIND1 | chemotaxis; blood coagulation; negative regulation of endopeptidase activity; regulation of proteolysis | 22q11.21 |
| SERPINE1 | cellular response to chemical stimulus; response to cytokine stimulus; positive regulation of leukotriene production involved in inflammatory response; fibrinolysis; negative regulation of cell adhesion mediated by integrin; tissue regeneration; response to estrogen stimulus; negative regulation of apoptotic process; glucose homeostasis; positive regulation of angiogenesis; positive regulation of receptor-mediated endocytosis; positive regulation of inflammatory response; negative regulation of smooth muscle cell-matrix adhesion; positive regulation of monocyte chemotaxis; cellular response to gravity; cellular response to lipopolysaccharide; defense response to Gram-negative bacterium; response to glucocorticoid stimulus; negative regulation of fibrinolysis; response to hyperoxia; negative regulation of vascular wound healing; negative regulation of wound healing; negative regulation of cell migration; positive regulation of interleukin-8 production; response to reactive oxygen species; chronological cell ag | 7q22.1 |
| SERPINE2 | negative regulation of endopeptidase activity; negative regulation of platelet aggregation; positive regulation of astrocyte differentiation; negative regulation of proteolysis; regulation of cell migration; negative regulation of blood coagulation; cell differentiation; negative regulation of protein processing; nervous system development; multicellular organismal development; negative regulation of plasminogen activation | 2q36.1 |
| SERPINE3 | regulation of proteolysis; negative regulation of endopeptidase activity | 13q14.3 |
| SERPINF1 | regulation of proteolysis; negative regulation of epithelial cell proliferation involved in prostate gland development; positive regulation of neurogenesis; kidney development; multicellular organismal development; aging; short-term memory; cell proliferation; negative regulation of endopeptidase activity; negative regulation of angiogenesis; response to retinoic acid; negative regulation of inflammatory response; response to glucocorticoid stimulus | 17p13.3 |
| SERPINF2 | positive regulation of JNK cascade; blood vessel morphogenesis; positive regulation of smooth muscle cell proliferation; positive regulation of stress fiber assembly; negative regulation of fibrinolysis; positive regulation of ERK1 and ERK2 cascade; positive regulation of transforming growth factor beta production; positive regulation of cell-cell adhesion mediated by cadherin; regulation of blood vessel size by renin-angiotensin; platelet degranulation; acute-phase response; blood coagulation; response to organic substance; positive regulation of transcription from RNA polymerase II promoter; negative regulation of plasminogen activation; negative regulation of endopeptidase activity; positive regulation of cell differentiation; fibrinolysis; positive regulation of collagen biosynthetic process; collagen fibril organization; platelet activation; regulation of proteolysis | 17p13 |
| SERPING1 | platelet degranulation; negative regulation of complement activation, lectin pathway; complement activation, classical pathway; blood coagulation; blood coagulation, intrinsic pathway; blood circulation; negative regulation of endopeptidase activity; platelet activation; innate immune response | 11q12.1 |
| SERPINH1 | response to stress; response to unfolded protein; negative regulation of endopeptidase activity; regulation of proteolysis | 11q13.5 |
| SERPINH1P1 | - | 9p13.3 |
| SERPINI1 | peripheral nervous system development; regulation of proteolysis; regulation of cell adhesion; negative regulation of endopeptidase activity; central nervous system development | 3q26.1 |
| SERTAD1 | positive regulation of transcription, DNA-dependent; positive regulation of cell proliferation; regulation of cyclin-dependent protein kinase activity | 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 | response to DNA damage stimulus; cell cycle arrest; negative regulation of cell proliferation | 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; RNA metabolic process; gene expression; nucleocytoplasmic transport; mRNA metabolic process; negative regulation of histone acetylation; negative regulation of neuron apoptosis; negative regulation of transcription, DNA-dependent; 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 | embryonic placenta morphogenesis; forebrain development; cell migration involved in vasculogenesis; mesoderm morphogenesis; embryonic organ development; embryonic cranial skeleton morphogenesis; stem cell development; pericardium development; peptidyl-lysine trimethylation; chromatin modification; histone H3-K36 methylation; coronary vasculature morphogenesis; morphogenesis of a branching structure; neural tube closure; regulation of transcription, DNA-dependent; angiogenesis | 3p21.31 |
| SETD3 | chromatin modification; histone H3-K36 methylation; peptidyl-lysine trimethylation; peptidyl-lysine monomethylation; peptidyl-lysine dimethylation; positive regulation of transcription, DNA-dependent | 14q32.2 |
| SETD4 | - | 21q22.13 |
| SETD5 | - | 3p25.3 |
| SETD6 | peptidyl-lysine monomethylation; negative regulation of NF-kappaB transcription factor activity; regulation of inflammatory response | 16q21 |
| SETD7 | chromatin modification; histone lysine methylation; regulation of transcription, DNA-dependent; peptidyl-lysine dimethylation; peptidyl-lysine monomethylation | 4q28 |
| SETD9 | - | 5q11.2 |
| SETDB1 | chromatin modification; regulation of transcription, DNA-dependent | 1q21 |
| SETDB2 | left/right axis specification; mitosis; multicellular organismal development; chromatin modification; negative regulation of transcription, DNA-dependent; histone H3-K9 methylation; chromosome segregation; cell division; cell cycle; heart looping | 13q14 |
| SETMAR | transposition, DNA-mediated; DNA repair; DNA catabolic process, endonucleolytic; DNA double-strand break processing; DNA integration; negative regulation of chromosome organization; positive regulation of double-strand break repair via nonhomologous end joining; negative regulation of cell cycle arrest; chromatin modification | 3p26.1 |
| SETP10 | - | 1q25.2 |
| SETP14 | - | 3q25.31 |
| SETP16 | - | 11q23.3 |
| SETP2 | - | 14q22.1 |
| SETP4 | - | Xq21.1 |
| SETP7 | - | - |
| SETP8 | - | Xq23 |
| SETX | double-strand break repair; RNA processing; cell death; DNA duplex unwinding | 9q34.13 |
| SEZ6 | - | 17q11.2 |
| SEZ6L | - | 22q12.1 |
| SEZ6L2 | - | 16p11.2 |
| SF1 | spliceosome assembly; nuclear mRNA 3'-splice site recognition; nuclear mRNA splicing, via spliceosome; regulation of transcription, DNA-dependent; RNA splicing | 11q13 |
| SF3A1 | RNA splicing; gene expression; nuclear mRNA 3'-splice site recognition; nuclear mRNA splicing, via spliceosome; mRNA processing | 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 | anterior/posterior pattern specification; RNA splicing; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions; gene expression | 2q33.1 |
| SF3B2 | interspecies interaction between organisms; gene expression; RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome | 11q13.1 |
| SF3B3 | RNA splicing; gene expression; mRNA processing; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions; protein complex assembly | 16q22.1 |
| SF3B4 | RNA splicing, via transesterification reactions; nuclear mRNA splicing, via spliceosome; mRNA processing; RNA splicing; gene expression | 1q21.2 |
| SF3B5 | RNA splicing; nuclear mRNA splicing, via spliceosome; gene expression | 6q24.2 |
| SF3B6 | - | 2pter-p25.1 |
| SFI1 | negative regulation of phosphatase activity; mitotic cell cycle; G2/M transition of mitotic cell cycle | 22q12.2 |
| SFMBT1 | regulation of transcription, DNA-dependent | 3p21.1 |
| SFMBT2 | regulation of transcription, DNA-dependent | 10p14 |
| SFN | regulation of cyclin-dependent protein kinase activity; keratinocyte proliferation; skin development; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of protein export from nucleus; 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 | 1p36.11 |
| SFPQ | alternative nuclear mRNA splicing, via spliceosome; RNA splicing; mRNA processing; regulation of transcription, DNA-dependent; DNA recombination; DNA repair | 1p34.3 |
| SFR1 | double-strand break repair via homologous recombination; DNA repair | 10q25.1 |
| SFRP1 | response to organic cyclic compound; positive regulation of Wnt receptor signaling pathway; neural tube development; dorsal/ventral axis specification; menstrual cycle phase; neural crest cell fate commitment; negative regulation of epithelial to mesenchymal transition; negative regulation of gene expression; regulation of cell cycle process; positive regulation of cell proliferation; osteoblast differentiation; ureteric bud development; neural tube closure; vasculature development; positive regulation of cell-matrix adhesion; hemopoietic progenitor cell differentiation; DNA fragmentation involved in apoptotic nuclear change; brain development; negative regulation of Wnt receptor signaling pathway; negative regulation of cell proliferation; gonad development; negative regulation of ossification; male gonad development; female gonad development; cellular response to starvation; embryo development; cellular response to transforming growth factor beta stimulus; hemopoietic stem cell differentiation; bone trabecu | 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; positive regulation of cell growth; 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 | 4q31.3 |
| SFRP4 | vasculature development; negative regulation of sodium-dependent phosphate transport; positive regulation of canonical Wnt receptor signaling pathway; negative regulation of canonical Wnt receptor signaling pathway; epithelium development; mammary gland involution; phosphate ion homeostasis; response to glucocorticoid stimulus; decidualization; negative regulation of JNK cascade; positive regulation of epidermal cell differentiation; response to peptide hormone stimulus; negative regulation of sequence-specific DNA binding transcription factor activity; positive regulation of apoptotic process; cell differentiation; positive regulation of receptor internalization; axonogenesis; 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; response to estradiol stimulus | 7p14.1 |
| SFRP5 | negative regulation of cell proliferation; visual perception; gonad development; anatomical structure morphogenesis; brain development; signal transduction; embryo development; Wnt receptor signaling pathway; cell differentiation; negative regulation of catenin import into nucleus; negative regulation of sequence-specific DNA binding transcription factor activity; establishment or maintenance of cell polarity; apoptotic process; vasculature development; negative regulation of protein kinase B signaling cascade; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of Wnt receptor signaling pathway involved in digestive tract morphogenesis | 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 | protein transport; vesicle-mediated transport | 1q24.2 |
| SFT2D3 | protein transport; vesicle-mediated transport | 2q14.3 |
| SFTA1P | - | 10p14 |
| SFTA2 | - | 6p21.33 |
| SFTA3 | - | 14q13.3 |
| SFTPA2 | respiratory gaseous exchange | 10q22.3 |
| SFTPA3P | - | 10q22.3 |
| SFTPB | response to lipopolysaccharide; response to vitamin A; cellular response to mechanical stimulus; response to epidermal growth factor stimulus; organ morphogenesis; response to glucose stimulus; circadian rhythm; response to interleukin-6; response to hyperoxia; response to glucocorticoid stimulus; respiratory gaseous exchange; cellular response to nitric oxide; lipid metabolic process; sphingolipid metabolic process; response to hypoxia | 2p12-p11.2 |
| SFTPC | cellular response to nitric oxide; response to hormone stimulus; response to glucocorticoid stimulus; circadian rhythm; respiratory gaseous exchange; protein homooligomerization; cellular response to mechanical stimulus; response to growth factor stimulus; response to retinoic acid; response to lipopolysaccharide; response to glucose stimulus; response to interleukin-6; response to hyperoxia; response to cAMP | 8p21 |
| SFTPD | macrophage chemotaxis; negative regulation of interleukin-2 biosynthetic process; lung alveolus development; positive regulation of phagocytosis; reactive oxygen species metabolic process; surfactant homeostasis; innate immune response; negative regulation of T cell proliferation; respiratory gaseous exchange; receptor-mediated endocytosis; regulation of cytokine production | 10q22.2-q23.1 |
| SFXN1 | transmembrane transport; iron ion transport; iron ion homeostasis; erythrocyte differentiation | - |
| SFXN2 | transmembrane transport; iron ion homeostasis | 10q24.32 |
| SFXN3 | transmembrane transport; iron ion homeostasis | 10q24.31 |
| SFXN4 | iron ion homeostasis; transmembrane transport | 10q26.11 |
| SFXN5 | transmembrane transport; iron ion homeostasis | - |
| SGCA | muscle contraction; muscle organ development | 17q21 |
| SGCB | cytoskeleton organization; muscle organ development | 4q12 |
| SGCD | muscle organ development; cytoskeleton organization | 5q33-q34 |
| SGCE | cell-matrix adhesion; muscle organ development | 7q21.3 |
| SGCG | muscle organ development; cytoskeleton organization | 13q12 |
| SGCZ | cytoskeleton organization; cellular membrane organization; muscle cell homeostasis; muscle cell development | 8p22 |
| SGF29 | establishment of protein localization to chromatin; histone H3 acetylation; chromatin modification; regulation of transcription, DNA-dependent | 16p11.2 |
| SGIP1 | positive regulation of feeding behavior; positive regulation of energy homeostasis; response to dietary excess; positive regulation of receptor-mediated endocytosis | 1p31.3 |
| SGK1 | regulation of sequence-specific DNA binding transcription factor activity; regulation of catalytic activity; regulation of apoptotic process; regulation of cell proliferation; positive regulation of transporter activity; regulation of cell migration; regulation of blood pressure; long-term memory; response to stress; sodium ion transport; protein phosphorylation; regulation of cell growth; renal sodium ion absorption; regulation of gastric acid secretion | 6q23 |
| SGK2 | response to oxidative stress; regulation of cell growth; protein phosphorylation; intracellular protein kinase cascade; positive regulation of transporter activity; regulation of cell proliferation | 20q13.2 |
| SGK223 | - | 8p23.1 |
| SGK3 | - | 8q12 |
| SGK494 | - | 17q11.2 |
| SGMS1 | cell growth; small molecule metabolic process; sphingolipid biosynthetic process; apoptotic process; sphingomyelin biosynthetic process; sphingolipid metabolic process; lipid metabolic process | 10q11.2 |
| SGMS2 | small molecule metabolic process; sphingolipid biosynthetic process; sphingomyelin biosynthetic process; sphingolipid metabolic process; lipid metabolic process | 4q25 |
| SGOL1 | mitotic cell cycle; cell division; meiotic chromosome segregation; M phase of mitotic cell cycle; centriole-centriole cohesion; mitotic prometaphase; attachment of spindle microtubules to kinetochore; chromosome segregation | 3p24.3 |
| SGOL1-AS1 | - | - |
| SGOL2 | mitotic prometaphase; meiotic sister chromatid cohesion, centromeric; cell division; protein localization; meiosis; chromosome segregation; M phase of mitotic cell cycle; mitotic cell cycle | 2q33.1 |
| SGPL1 | face morphogenesis; palate development; Leydig cell differentiation; regulation of multicellular organism growth; small molecule metabolic process; platelet-derived growth factor receptor signaling pathway; fibroblast migration; androgen metabolic process; spermatogenesis; apoptotic process; nitrogen compound metabolic process; female gonad development; post-embryonic development; ceramide metabolic process; sphingolipid metabolic process; lipid metabolic process; estrogen metabolic process; carboxylic acid metabolic process; kidney development; vasculogenesis; luteinization; skeletal system morphogenesis; hemopoiesis; sphingolipid biosynthetic process; sphingolipid catabolic process | 10q21 |
| SGPP1 | sphingosine metabolic process; small molecule metabolic process; sphingolipid biosynthetic process; dephosphorylation; sphinganine-1-phosphate metabolic process; sphingolipid metabolic process; apoptotic process | 14q23.2 |
| SGPP2 | sphingolipid metabolic process; small molecule metabolic process; sphingolipid biosynthetic process; sphingosine metabolic process | 2q36.1 |
| SGSH | proteoglycan metabolic process | 17q25.3 |
| SGSM1 | - | 22q11.23 |
| SGSM2 | - | 17p13.3 |
| SGSM3 | Rap protein signal transduction; cell cycle; positive regulation of protein catabolic process; cell cycle arrest; regulation of Rab protein signal transduction | 22q13.1-q13.2 |
| SGTA | interspecies interaction between organisms | 19p13 |
| SGTB | - | 5q12.3 |
| SH2B1 | intracellular signal transduction; blood coagulation | 16p11.2 |
| SH2B2 | regulation of JAK-STAT cascade; signal transduction; blood coagulation; insulin receptor signaling pathway; intracellular signal transduction | 7q22 |
| SH2B3 | intracellular signal transduction; cell differentiation; embryonic hemopoiesis; blood coagulation | 12q24 |
| SH2D1A | cell-cell signaling; cellular defense response; humoral immune response; positive regulation of natural killer cell mediated cytotoxicity | Xq25 |
| SH2D1B | positive regulation of innate immune response; positive regulation of natural killer cell mediated immunity; leukocyte activation involved in immune response | 1q23.3 |
| SH2D2A | cell differentiation; multicellular organismal development; signal transduction; angiogenesis | 1q21 |
| SH2D3A | small GTPase mediated signal transduction; JNK cascade | 19p13.3 |
| SH2D3C | small GTPase mediated signal transduction; JNK cascade | 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 | signal transduction; intracellular signal transduction | 3p24.3 |
| SH3BP5-AS1 | - | 3p25.1 |
| SH3BP5L | - | 1q44 |
| SH3D19 | positive regulation of membrane protein ectodomain proteolysis; regulation of cell morphogenesis; cellular membrane organization; cytoskeleton organization; post-Golgi vesicle-mediated transport | 4q31.3 |
| SH3D21 | - | 1p34.3 |
| SH3GL1 | endocytosis; signal transduction; central nervous system development | 19p13.3 |
| SH3GL1P2 | - | 17q11.2 |
| SH3GL1P3 | - | 17q24.2 |
| SH3GL2 | central nervous system development; regulation of receptor internalization; post-Golgi vesicle-mediated transport; signal transduction; epidermal growth factor receptor signaling pathway; axon guidance; cellular membrane organization; negative regulation of epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; synaptic vesicle endocytosis | 9p22 |
| SH3GL3 | endocytosis; signal transduction; central nervous system development | 15q24 |
| SH3GLB1 | positive regulation of protein oligomerization; apoptotic process; anti-apoptosis; signal transduction; protein oligomerization; filopodium assembly | 1p22 |
| SH3GLB2 | filopodium assembly; signal transduction | 9q34 |
| SH3KBP1 | apoptotic process; endocytosis; cytoskeleton organization; epidermal growth factor receptor signaling pathway; cell-cell signaling; regulation of cell shape; cell migration; negative regulation of epidermal growth factor receptor signaling pathway | Xp22.1-p21.3 |
| SH3PXD2A | cell communication; superoxide metabolic process | 10q24.33 |
| SH3PXD2A-AS1 | - | - |
| SH3PXD2B | cell differentiation; extracellular matrix disassembly; positive regulation of fat cell differentiation; bone development; adipose tissue development; podosome assembly; protein localization in membrane; cell communication; heart development; superoxide metabolic process; skeletal system development; eye development | 5q35.1 |
| SH3RF1 | induction of apoptosis; negative regulation of extrinsic apoptotic signaling pathway; regulation of JNK cascade; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process | 4q32.3 |
| SH3RF2 | negative regulation of phosphatase activity | 5q32 |
| SH3RF3 | - | 2q13 |
| SH3RF3-AS1 | - | 2q12.3 |
| SH3TC1 | - | 4p16.1 |
| SH3TC2 | - | 5q32 |
| SH3YL1 | - | 2p25.3 |
| SHANK1 | protein complex assembly; protein localization to synapse; neuromuscular process controlling balance; dendritic spine morphogenesis; long-term memory; nervous system development; cell differentiation; associative learning; cytoskeletal anchoring at plasma membrane; positive regulation of excitatory postsynaptic membrane potential; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity | 19q13.3 |
| SHANK2 | intracellular signal transduction | 11q13.2 |
| SHANK2-AS1 | - | - |
| SHANK2-AS2 | - | - |
| SHANK3 | vocalization behavior; negative regulation of cell volume; dendritic spine morphogenesis; postsynaptic density assembly; positive regulation of excitatory postsynaptic membrane potential; locomotory exploration behavior; regulation of behavioral fear response; positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; positive regulation of synaptic transmission, glutamatergic; social behavior; positive regulation of synapse structural plasticity; striatal medium spiny neuron differentiation; brain morphogenesis; positive regulation of long-term neuronal synaptic plasticity | 22q13.3 |
| SHARPIN | positive regulation of I-kappaB kinase/NF-kappaB cascade; protein homooligomerization; regulation of CD40 signaling pathway; negative regulation of inflammatory response; protein linear polyubiquitination; mitochondrion organization; brain development; epidermis development; regulation of tumor necrosis factor-mediated signaling pathway; apoptotic nuclear change; keratinization | 8q24.3 |
| SHB | angiogenesis; cell differentiation; multicellular organismal development; signal transduction; apoptotic process; B cell proliferation | 9p13.2 |
| SHBG | primary spermatocyte growth; hormone transport | 17p13-p12 |
| SHC1 | activation of signaling protein activity involved in unfolded protein response; MAPK cascade; activation of MAPK activity; angiogenesis; response to hypoxia; aging; epidermal growth factor receptor signaling pathway; regulation of epidermal growth factor-activated receptor activity; Ras protein signal transduction; heart development; positive regulation of smooth muscle cell proliferation; response to toxin; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; positive regulation of cell proliferation; blood coagulation; platelet activation; response to hydrogen peroxide; positive regulation of DNA replication; positive regulation of vasoconstriction; nerve growth factor receptor signaling pathway; regulation of growth; intracellular signal transduction; response to nicotine; response to insulin stimulus; actin cytoskeleton reorganization; neuron projection development; organ regeneration; leukocyte migration; response to glucocorticoid stimulus; endoplasmic reticulum unfol | 1q21 |
| SHC1P1 | - | Xq11.1 |
| SHC1P2 | - | 17q21.31 |
| SHC2 | Ras protein signal transduction; insulin receptor signaling pathway; intracellular signal transduction; nerve growth factor receptor signaling pathway | 19p13.3 |
| SHC3 | nerve growth factor receptor signaling pathway; transmembrane receptor protein tyrosine kinase signaling pathway; epidermal growth factor receptor signaling pathway; Ras protein signal transduction; central nervous system development; learning or memory; insulin receptor signaling pathway; synaptic transmission, glutamatergic; intracellular signal transduction | 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 | double-strand break repair via homologous recombination; proteolysis | 7q21.3 |
| SHH | thyroid gland development; T cell differentiation in thymus; positive regulation of activin receptor signaling pathway; regulation of protein localization; response to retinoic acid; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; response to estradiol stimulus; hair follicle morphogenesis; pancreas development; hindbrain development; midbrain development; forebrain development; positive regulation of T cell differentiation in thymus; regulation of epithelial cell differentiation; epithelial-mesenchymal signaling involved in prostate gland development; 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; camera-type eye development; dorsal/ventral neural tube patterning; ventral spinal cord interneuron speci | 7q36 |
| SHISA2 | multicellular organismal development | 13q12.13 |
| SHISA3 | multicellular organismal development | 4p13 |
| SHISA4 | - | 1q32.1 |
| SHISA5 | induction of apoptosis; apoptotic process; signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 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 | protein homotetramerization; protein tetramerization; folic acid metabolic process; carnitine biosynthetic process; small molecule metabolic process; cellular nitrogen compound metabolic process; purine base biosynthetic process; water-soluble vitamin metabolic process; vitamin metabolic process; one-carbon metabolic process; L-serine catabolic process; glycine biosynthetic process from serine | 17p11.2 |
| SHMT1P1 | - | 1p34 |
| SHMT2 | glycine metabolic process; L-serine metabolic process; L-serine biosynthetic process; one-carbon metabolic process; positive regulation of cell proliferation; glycine biosynthetic process from serine; protein homotetramerization | 12q12-q14 |
| SHOC2 | positive regulation of Ras protein signal transduction; fibroblast growth factor receptor signaling pathway; Ras protein signal transduction | 10q25 |
| SHOX | transcription from RNA polymerase II promoter; multicellular organismal development; regulation of transcription, DNA-dependent; skeletal system development | Xp22.33;Yp11.3 |
| SHOX2 | skeletal system development; multicellular organismal development; nervous system development; heart development | 3q25.32 |
| SHPK | carbohydrate metabolic process | 17p13 |
| SHPRH | nucleosome assembly; DNA repair | 6q24.3 |
| SHQ1 | ribonucleoprotein complex assembly | 3p13 |
| SHROOM1 | cell morphogenesis; actin filament bundle assembly | 5q31.1 |
| SHROOM2 | camera-type eye development; cellular pigment accumulation; ear development; cell migration; eye pigment granule organization; cell-cell junction maintenance; camera-type eye morphogenesis; brain development; multicellular organismal development; lens morphogenesis in camera-type eye; cell morphogenesis; negative regulation of actin filament depolymerization; establishment of melanosome localization; apical protein localization; melanosome organization; actin filament bundle assembly | Xp22.3 |
| SHROOM2P1 | - | Yq11.21 |
| SHROOM3 | neural tube closure; columnar/cuboidal epithelial cell development; cell morphogenesis; apical protein localization; cellular pigment accumulation; actin cytoskeleton organization; regulation of cell shape; pattern specification process | 4q21.1 |
| SHROOM4 | cell morphogenesis; actin filament organization; multicellular organismal development; brain development; actin cytoskeleton organization; cognition | Xp11.22 |
| SHTN1 | multicellular organismal development; axon guidance | 10q25.3 |
| SI | small molecule metabolic process; polysaccharide digestion; response to starvation; response to vitamin A; response to glucocorticoid stimulus; carbohydrate metabolic process; response to insulin stimulus; response to fructose stimulus; response to sucrose stimulus; response to nutrient; aging | 3q25.2-q26.2 |
| SIAE | - | 11q24 |
| SIAH1 | positive regulation of intrinsic apoptotic signaling pathway; proteolysis; 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; anatomical structure morphogenesis; axon guidance; nervous system development; spermatogenesis; multicellular organismal development; cell cycle; apoptotic process; protein ubiquitination | 16q12.1 |
| SIAH1P1 | - | Xp21.1 |
| SIAH2 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of extrinsic apoptotic signaling pathway; negative regulation of canonical Wnt receptor signaling pathway; cellular protein catabolic process; negative regulation of apoptotic process; multicellular organismal development; small GTPase mediated signal transduction; cell cycle; ubiquitin-dependent protein catabolic process; axon guidance | 3q25 |
| SIAH3 | ubiquitin-dependent protein catabolic process; multicellular organismal development | 13q14.13 |
| SIDT1 | - | 3q13.2 |
| SIDT2 | - | 11q23.3 |
| SIGIRR | negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of lipopolysaccharide-mediated signaling pathway; signal transduction; negative regulation of chemokine biosynthetic process; innate immune response; negative regulation of cytokine-mediated signaling pathway; acute-phase response | 11p15.5 |
| SIGLEC1 | cell-matrix adhesion; endocytosis; inflammatory response; 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 adhesion; cell-cell signaling | 19q13.3 |
| SIGLEC7 | cell adhesion | 19q13.3 |
| SIGLEC8 | cell adhesion; signal transduction | 19q13.33-q13.41 |
| SIGLEC9 | cell surface receptor signaling pathway; cell adhesion | 19q13.41 |
| SIGLECL1 | - | 19q13.41 |
| SIGMAR1 | nervous system development; lipid transport; transport; ergosterol biosynthetic process | 9p13.3 |
| SIK1 | signal transduction by p53 class mediator resulting in induction of anoikis; cardiac muscle cell differentiation; intracellular protein kinase cascade; cell cycle; protein phosphorylation; regulation of sodium ion transport; multicellular organismal development; regulation of mitotic cell cycle; regulation of myotube differentiation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of triglyceride biosynthetic process; negative regulation of CREB transcription factor activity; regulation of cell differentiation; negative regulation of gluconeogenesis; protein autophosphorylation | 21q22.3 |
| SIK2 | regulation of insulin receptor signaling pathway; protein autophosphorylation; intracellular protein kinase cascade; protein phosphorylation | 11q23.1 |
| SIK3 | protein phosphorylation | 11q23.3 |
| SIK3-IT1 | - | - |
| SIKE1 | innate immune response | 1p13.2 |
| SIL1 | protein folding; intracellular protein transport | 5q31 |
| SIM1 | regulation of transcription, DNA-dependent; ureteric bud development; multicellular organismal development; nervous system development; cell differentiation | 6q16.3-q21 |
| SIM2 | embryonic pattern specification; lung development; cell differentiation; nervous system development; multicellular organismal development; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter | 21q22.13 |
| SIMC1 | - | 5q35.2 |
| SIN3A | small molecule metabolic process; negative regulation of transcription, DNA-dependent; interphase of mitotic cell cycle; cellular lipid metabolic process; regulation of transcription from RNA polymerase II promoter in response to oxidative stress; negative regulation of apoptotic process; cellular protein localization; response to organic nitrogen; blood coagulation; aging; DNA replication; in utero embryonic development | 15q24.2 |
| SIN3B | cellular lipid metabolic process; cardiac muscle tissue development; skeletal muscle tissue development; small molecule metabolic process; negative regulation of transcription, DNA-dependent | 19p13.11 |
| SIPA1 | positive regulation of GTPase activity; regulation of small GTPase mediated signal transduction; negative regulation of cell cycle; intracellular signal transduction; positive regulation of Rap GTPase activity; negative regulation of cell growth; cell proliferation; signal transduction; negative regulation of cell adhesion; cytoskeleton organization | 11q13 |
| SIPA1L1 | regulation of small GTPase mediated signal transduction; regulation of axonogenesis; actin cytoskeleton reorganization; regulation of Rap GTPase activity; activation of Rap GTPase activity; ephrin receptor signaling pathway; regulation of synaptic plasticity; regulation of dendritic spine morphogenesis | 14q24.2 |
| SIPA1L2 | regulation of small GTPase mediated signal transduction | 1q42.2 |
| SIPA1L3 | regulation of small GTPase mediated signal transduction | 19q13.13 |
| SIRPA | cell adhesion; blood coagulation; leukocyte migration | 20p13 |
| SIRPAP1 | - | 22q12.2 |
| SIRPB1 | signal transduction; cell surface receptor signaling pathway | 20p13 |
| SIRPB2 | - | 20p13 |
| SIRPD | - | 20p13 |
| SIRPG | leukocyte migration; positive regulation of T cell activation; intracellular signal transduction; positive regulation of cell-cell adhesion; negative regulation of cell proliferation; positive regulation of cell proliferation; blood coagulation; cell-cell signaling; cell adhesion | 20p13 |
| SIRT1 | regulation of peroxisome proliferator activated receptor signaling pathway; regulation of bile acid biosynthetic process; single strand break repair; negative regulation of androgen receptor signaling pathway; regulation of cell proliferation; regulation of protein import into nucleus, translocation; cellular triglyceride homeostasis; peptidyl-lysine deacetylation; regulation of smooth muscle cell apoptosis; fatty acid homeostasis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of insulin receptor signaling pathway; white fat cell differentiation; negative regulation of helicase activity; negative regulation of NF-kappaB transcription factor activity; negative regulation of protein kinase B signaling cascade; response to insulin stimulus; negative regulation of peptidyl-lysine acetylation; negative regulation of sequence-specific DNA binding transcription factor activity; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; prote | 10q21.3 |
| SIRT2 | proteasomal ubiquitin-dependent protein catabolic process; regulation of phosphorylation; chromatin silencing at rDNA; response to redox state; cell division; chromatin silencing; negative regulation of transcription, DNA-dependent; chromatin silencing at telomere; protein ADP-ribosylation; protein deacetylation; cell cycle; mitosis; regulation of exit from mitosis; negative regulation of striated muscle tissue development; histone deacetylation; gene silencing | 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; chromatin silencing; protein ADP-ribosylation; protein deacetylation | 6p23 |
| SIRT6 | protein deacetylation; protein ADP-ribosylation | 19p13.3 |
| SIRT7 | protein deacetylation; positive regulation of transcription on exit from mitosis; rRNA transcription | 17q25 |
| SIT1 | signal transduction; regulation of T cell activation | 9p13-p12 |
| SIVA1 | interspecies interaction between organisms; negative regulation of NF-kappaB transcription factor activity; negative regulation of anti-apoptosis; response to virus; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; activation-induced cell death of T cells; induction of apoptosis; apoptotic process | 14q32.33 |
| SIX1 | positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; thymus development; positive regulation of mesenchymal cell proliferation involved in ureter 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; ureteric bud development; negative regulation of neuron apoptosis; regulation of neuron differentiation; branching involved in ureteric bud morphogenesis; organ induction; kidney development; outflow tract morphogenesis; | 14q23.1 |
| SIX2 | kidney development; mesenchymal to epithelial transition involved in metanephros morphogenesis; regulation of transcription, DNA-dependent; chondrocyte differentiation; metanephros development; protein import into nucleus; multicellular organismal development; mesodermal cell fate specification; cell proliferation; anatomical structure morphogenesis; middle ear morphogenesis; negative regulation of cell differentiation; positive regulation of transcription from RNA polymerase II promoter; embryonic cranial skeleton morphogenesis | 2p21 |
| SIX3 | camera-type eye development; negative regulation of Wnt receptor signaling pathway; forebrain anterior/posterior pattern specification; telencephalon development; diencephalon development; visual perception; brain development; multicellular organismal development; protein import into nucleus; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; lens induction in camera-type eye | 2p21 |
| SIX3-AS1 | - | 2p21 |
| SIX4 | negative regulation of neuron apoptosis; regulation of branch elongation involved in ureteric bud branching; multicellular organismal development; skeletal muscle tissue development; metanephric mesenchyme development; anatomical structure morphogenesis; inner ear morphogenesis; positive regulation of transcription from RNA polymerase II promoter; thymus development; generation of neurons; embryonic cranial skeleton morphogenesis; myoblast migration; positive regulation of branching involved in ureteric bud morphogenesis; positive regulation of ureteric bud formation | 14q23 |
| SIX5 | spermatid development; multicellular organismal development; negative regulation of cell proliferation; lens development in camera-type eye | 19q13.32 |
| SIX6 | visual perception; multicellular organismal development; organ morphogenesis | 14q23.1 |
| SKA1 | mitotic prometaphase; mitotic anaphase; M phase of mitotic cell cycle; mitotic cell cycle; chromosome segregation; mitosis; regulation of microtubule polymerization or depolymerization; cell division | 18q21.1 |
| SKA2 | mitosis; regulation of microtubule polymerization or depolymerization; M phase of mitotic cell cycle; mitotic prometaphase; chromosome segregation; cell division; mitotic anaphase; mitotic cell cycle | 17q22 |
| SKA2P1 | - | 9q33.2 |
| SKA3 | cell cycle; chromosome segregation; cell division; regulation of microtubule polymerization or depolymerization; mitosis | 13q12.11 |
| SKAP1 | positive regulation of transcription, DNA-dependent; T cell receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter | 17q21.32 |
| SKAP2 | signal transduction; protein complex assembly; negative regulation of cell proliferation; B cell activation | 7p15.2 |
| SKCG-1 | - | - |
| SKI | olfactory bulb development; 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; anterior/posterior axis specification; myotube differentiation; negative regulation of Schwann cell proliferation; negative regulation of transcription from RNA polymerase II promoter; neural tube closure; lens morphogenesis in camera-type eye; transcription, DNA-dependent; transforming growth factor beta receptor signaling pathway; cell proliferation; negative regulation of cell proliferation; protein homotrimerization; positive regulation of transcription from RNA polymerase II promoter; SMAD protein signal transduction; bone morphogenesis; face morphogenesis; retina development in camera-type eye; palate development; cell motility; skeletal muscle fiber development; camera-type eye morphogenesis; negative | 1p36.33 |
| SKIDA1 | - | 10p12.31 |
| SKIL | regulation of apoptotic process; lymphocyte homeostasis; cell cycle arrest; skeletal muscle tissue development; negative regulation of transforming growth factor beta receptor signaling pathway; blastocyst formation; response to growth factor stimulus; negative regulation of transcription from RNA polymerase II promoter; lens fiber cell differentiation; negative regulation of cell differentiation; response to antibiotic; positive regulation of axonogenesis; protein heterotrimerization; protein homotrimerization | 3q26 |
| SKINTL | - | 1p33 |
| SKIV2L | - | 6p21 |
| SKIV2L2 | maturation of 5.8S rRNA; nuclear mRNA splicing, via spliceosome; RNA splicing | 5q11.2 |
| SKOR1 | negative regulation of BMP signaling pathway; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transforming growth factor beta receptor signaling pathway | 15q23 |
| SKOR2 | negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 18q21.1 |
| SKP1 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; histone H2A monoubiquitination; viral reproduction; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; ubiquitin-dependent protein catabolic process; mitotic cell cycle; S phase of mitotic cell cycle; protein ubiquitination; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process | 5q31 |
| SKP1P1 | - | 7q11.21 |
| SKP2 | negative regulation of survival gene product expression; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; regulation of cell cycle; positive regulation of intracellular estrogen receptor signaling pathway; 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 | 5p13 |
| SLA | - | 8q24 |
| SLA2 | negative regulation of B cell activation; regulation of immune response; antigen receptor-mediated signaling pathway; negative regulation of calcium-mediated signaling; T cell activation; intracellular receptor mediated signaling pathway; B cell mediated immunity; negative regulation of transcription from RNA polymerase II promoter | 20q11.23 |
| SLAIN1 | - | 13q22.3 |
| SLAIN2 | positive regulation of microtubule polymerization; cytoplasmic microtubule organization; microtubule nucleation | 4p11 |
| SLAMF1 | lymphocyte activation; interspecies interaction between organisms; positive regulation of cell proliferation | 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 | regulation of S phase; histone mRNA 3'-end processing; mRNA processing; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; mRNA export from nucleus; histone mRNA metabolic process; gene expression; DNA replication involved in S phase; mRNA transport | 4p16.3 |
| SLC10A1 | transport; ion transport; sodium ion transport; bile acid metabolic process; organic anion transport; bile acid and bile salt transport; small molecule metabolic process | 14q24.1 |
| SLC10A2 | small molecule metabolic process; bile acid and bile salt transport; organic anion transport; bile acid metabolic process; sodium ion transport; ion transport; transport | 13q33 |
| SLC10A3 | sodium ion transport; organic anion transport; response to retinoic acid; response to chemical stimulus; transport | Xq28 |
| SLC10A4 | sodium ion transport; ion transport | 4p11 |
| SLC10A5 | ion transport; sodium ion transport | 8q21.13 |
| SLC10A6 | ion transport; sodium ion transport; transmembrane transport; sodium-dependent organic anion transport | 4q21.3 |
| SLC10A7 | sodium ion transport; ion transport | 4q31.22 |
| SLC11A1 | wound healing; response to interferon-gamma; positive regulation of interferon-gamma production; interleukin-3 production; interleukin-2 production; response to lipopolysaccharide; activation of protein kinase activity; nitrite transport; positive regulation of gene expression; response to bacterium; macrophage activation; defense response to bacterium; defense response to protozoan; iron ion homeostasis; L-arginine import; vacuolar acidification; immune response; inflammatory response; phagocytosis; cellular iron ion homeostasis; cellular cadmium ion homeostasis; manganese ion transport; iron ion transport; ion transport; positive regulation of T-helper 1 type immune response; positive regulation of dendritic cell antigen processing and presentation; T cell cytokine production; T cell proliferation involved in immune response; positive regulation of cytokine production; negative regulation of cytokine production; respiratory burst; positive regulation of phagocytosis; protein import into nucleus, translocati | 2q35 |
| SLC11A2 | manganese ion transmembrane transport; zinc ion transmembrane transport; transmembrane transport; cadmium ion transmembrane transport; ferrous iron import; erythrocyte development; dendrite morphogenesis; multicellular organismal iron ion homeostasis; response to cadmium ion; response to lead ion; cobalt ion transport; copper ion transport; manganese ion transport; cellular iron ion homeostasis; activation of cysteine-type endopeptidase activity involved in apoptotic process; learning or memory; response to iron ion; response to manganese ion; nickel cation transmembrane transport; nickel cation transport; vanadium ion transport; ferrous iron transport; lead ion transport; proton transport; cellular response to oxidative stress; copper ion transmembrane transport; response to hypoxia; detection of oxygen; heme biosynthetic process; ion transport | 12q13 |
| SLC12A1 | ion transmembrane transport; chloride transport; excretion; chemical homeostasis; sodium ion transport; transmembrane transport; kidney development; transport; ion transport; potassium ion transport | 15q15-q21.1 |
| SLC12A2 | ammonium transport; sodium ion transport; potassium ion transport; mammary duct terminal end bud growth; branching involved in mammary gland duct morphogenesis; transmembrane transport; ion transport; transepithelial chloride transport; multicellular organism growth; detection of mechanical stimulus involved in sensory perception of sound; transport; transepithelial ammonium transport | 5q23.3 |
| SLC12A3 | sodium ion transmembrane transport; transmembrane transport; chloride transport; sodium ion transport; ion transport; transport | 16q13 |
| SLC12A4 | potassium ion transport; sodium ion transport; chloride transport; cell volume homeostasis; transmembrane transport; ion transport; transport | 16q22.1 |
| SLC12A5 | chloride transport; sodium ion transport; potassium ion transport; cellular ion homeostasis; ammonium transport; intracellular pH reduction; transmembrane transport; ion transport; transport | 20q13.12 |
| SLC12A6 | sodium ion transport; cellular hypotonic salinity response; transmembrane transport; chloride transport; potassium ion transport; ion transport; angiogenesis | 15q13 |
| SLC12A7 | transport; ion transport; potassium ion transport; sodium ion transport; chloride transport; cell volume homeostasis; transmembrane transport | 5p15 |
| SLC12A8 | transmembrane transport; potassium ion transport; ion transport | 3q21.2 |
| SLC12A9 | transmembrane transport | 7q22 |
| SLC13A1 | sodium ion transport; sulfate transport; ion transmembrane transport; transmembrane transport | 7q31.32 |
| SLC13A2 | transport; ion transport; sodium ion transport; transmembrane transport | 17p13.2 |
| SLC13A3 | transmembrane transport; anion transport; sodium ion transport; sodium ion export | 20q13.12 |
| SLC13A4 | transmembrane transport; sulfate transport; sodium ion transport; ion transport | 7q33 |
| SLC13A5 | transmembrane transport; sodium ion transport; ion transport | 17p13.1 |
| SLC14A1 | urea transport; transmembrane transport; urea transmembrane transport | 18q11-q12 |
| SLC15A1 | oligopeptide transmembrane transport; transmembrane transport; transport; ion transport; oligopeptide transport; digestion; protein transport; peptide transport | 13q32.3 |
| SLC15A2 | transport; transmembrane transport; drug transport; protein transport; ion transport | 3q13.33 |
| SLC15A3 | transmembrane transport; protein transport; oligopeptide transport; ion transport | 11q12.2 |
| SLC15A4 | protein transport; oligopeptide transport; ion transport; transmembrane transport | 12q24.32 |
| SLC15A5 | protein transport; oligopeptide transport | 12p12.3 |
| SLC16A1 | transmembrane transport; leukocyte migration; small molecule metabolic process; mevalonate transport; monocarboxylic acid transport; organic anion transport; blood coagulation; pyruvate metabolic process | 1p12 |
| SLC16A10 | transmembrane transport; aromatic amino acid transport; amino acid transport; ion 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 | transmembrane transport; transport; monocarboxylic acid transport | Xq13.2 |
| SLC16A4 | transmembrane transport; monocarboxylic acid transport | 1p13.3 |
| SLC16A5 | transmembrane transport; monocarboxylic acid transport; organic anion transport | 17q25.1 |
| SLC16A6 | transmembrane transport; monocarboxylic acid transport | 17q24.2 |
| SLC16A7 | transmembrane transport; pyruvate transport | 12q13 |
| SLC16A9 | urate metabolic process; transmembrane transport | 10q21.2 |
| SLC17A1 | transmembrane transport; ion transport; sodium ion transport; phosphate ion transport; sodium-dependent phosphate transport; urate metabolic process | 6p22.2 |
| SLC17A2 | phosphate-containing compound metabolic process; ion transport; sodium ion transport; transmembrane transport | 6p21.3 |
| SLC17A3 | urate metabolic process; phosphate ion transport; regulation of anion transport; drug transport; glucose-6-phosphate transport; urate transport; sodium ion transport; drug transmembrane transport; organic anion transport; ion transport | 6p21.3 |
| SLC17A4 | phosphate-containing compound metabolic process; transmembrane transport; sodium ion transport; ion transport | 6p22.2 |
| SLC17A5 | sialic acid transport; transmembrane transport; anion transport; ion transport | 6q13 |
| SLC17A6 | transmembrane transport; ion transport; neurotransmitter transport; sodium ion transport | 11p14.3 |
| SLC17A7 | transmembrane transport; long-term memory; ion transport; regulation of excitatory postsynaptic membrane potential; phosphate ion transport; sodium ion transport; glutamate secretion; L-glutamate transport; synaptic transmission, glutamatergic; sequestering of neurotransmitter; L-glutamate import; synaptic transmission; neurotransmitter secretion; sodium-dependent phosphate transport | 19q13 |
| SLC17A8 | neurotransmitter transport; sodium ion transport; sensory perception of sound; transmembrane transport; L-amino acid transport; amino acid transmembrane transport; ion transport | 12q23.1 |
| SLC17A9 | exocytosis; transmembrane transport | 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 | response to amphetamine; response to corticosterone stimulus; cellular response to ammonium ion; transmembrane transport; negative regulation of neurotransmitter transport; insulin secretion; endocytic recycling; cellular response to drug; response to cocaine; glucose homeostasis; response to starvation; locomotory behavior; response to herbicide; post-embryonic development; response to zinc ion; synaptic vesicle amine transport; synaptic transmission; neurotransmitter secretion; aging; monoamine transport; death | 10q25 |
| SLC18A3 | synaptic transmission; acetylcholine transport; neurotransmitter secretion; transmembrane transport | 10q11.2 |
| SLC18B1 | transmembrane transport | 6q22.3-q23.3 |
| SLC19A1 | folic acid transport; methotrexate transport; transport; water-soluble vitamin metabolic process; vitamin metabolic process; folic acid metabolic process; small molecule metabolic process | 21q22.3 |
| SLC19A2 | vitamin metabolic process; water-soluble vitamin metabolic process; small molecule metabolic process; transport; folic acid transport; thiamine transport; thiamine-containing compound metabolic process; thiamine transmembrane transport | 1q23.3 |
| SLC19A3 | water-soluble vitamin metabolic process; transport; thiamine-containing compound metabolic process; small molecule metabolic process; vitamin metabolic process | 2q37 |
| SLC1A1 | amino acid transmembrane transport; ion 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; 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-amino acid transport; L-glutamate transport | 11p13-p12 |
| SLC1A3 | gamma-aminobutyric acid biosynthetic process; response to drug; response to light stimulus; sensory perception of sound; synaptic transmission; dicarboxylic acid transport; ion transport; glutamate biosynthetic process; amino acid transmembrane transport; neurotransmitter uptake; response to inorganic substance; auditory behavior; malate-aspartate shuttle; 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; cranial nerve development; L-glutamate transport; L-amino acid transport; response to wounding | 5p13 |
| SLC1A4 | threonine transport; hydroxyproline transport; transmembrane transport; L-serine transport; proline transport; L-cystine transport; L-alanine transport; glutamine transport; cognition; proline transmembrane transport; synaptic transmission, glutamatergic; amino acid transport; dicarboxylic acid transport; chloride transport; ion transport | 2p15-p13 |
| SLC1A5 | ion transport; transmembrane transport; neutral amino acid transport; glutamine transport; amino acid transport; dicarboxylic acid transport | 19q13.3 |
| SLC1A6 | transmembrane transport; regulation of membrane potential; L-glutamate transport; aspartate transport; amino acid transmembrane transport; L-amino acid transport; synaptic transmission; dicarboxylic acid transport; ion transport | 19p13.12 |
| SLC1A7 | transmembrane transport; L-glutamate transport; dicarboxylic acid transport; ion transport | 1p32.3 |
| SLC20A1 | transport; ion transport; sodium ion transport; phosphate ion transport; phosphate-containing compound metabolic process; transmembrane transport; positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction | 2q13 |
| SLC20A1P3 | - | 15q11.1 |
| SLC20A2 | transport; ion transport; sodium ion transport; phosphate ion transport; interspecies interaction between organisms; transmembrane transport | 8p11.21 |
| SLC22A1 | epinephrine transport; organic cation transport; establishment or maintenance of transmembrane electrochemical gradient; drug transmembrane transport; 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 | cell differentiation; transmembrane transport; acid secretion; ion transport; multicellular organismal development; spermatogenesis; single fertilization; organic cation transport; sperm motility; carnitine transport | 6q22.1|6q21-q22.1 |
| SLC22A17 | siderophore transport; ion transport; iron ion homeostasis | 14q11.2 |
| SLC22A18 | transmembrane transport; drug transport; organic cation transport; excretion; drug transmembrane transport; ion transport | 11p15.5 |
| SLC22A18AS | - | 11p15.5 |
| SLC22A2 | organic cation transport; neurotransmitter biosynthetic process; body fluid secretion; neurotransmitter secretion; synaptic transmission; 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 | transmembrane transport; histamine uptake; regulation of appetite; monoamine transport; organic cation transport; quaternary ammonium group transport | 6q25.3 |
| SLC22A31 | ion transport | 16q24.3 |
| SLC22A4 | organic cation transport; quaternary ammonium group transport; carnitine metabolic process; body fluid secretion; carnitine transport; transmembrane transport; sodium ion transport; triglyceride metabolic process | 5q31.1 |
| SLC22A5 | transmembrane transport; sodium ion transport; drug transmembrane transport; quaternary ammonium group transport; sodium-dependent organic cation transport; carnitine transport; drug transport; quorum sensing involved in interaction with host; positive regulation of intestinal epithelial structure maintenance | 5q23.3 |
| SLC22A6 | alpha-ketoglutarate transport; response to methotrexate; sodium-independent organic anion transport; transmembrane transport; organic anion transport | 11q12.3 |
| SLC22A7 | transmembrane transport; organic anion transport | 6p21.1 |
| SLC22A8 | transmembrane transport; glutathione transport; response to methotrexate; organic anion transport; response to toxin | 11q11 |
| SLC22A9 | transmembrane transport | 11q13.1 |
| SLC23A1 | nucleobase-containing compound metabolic process; dehydroascorbic acid transport; transepithelial L-ascorbic acid transport; sodium ion export; small molecule metabolic process; L-ascorbic acid metabolic process; L-ascorbic acid transport; nucleobase transport; response to toxin; brain development; sodium ion transport; ion transport; water-soluble vitamin metabolic process; vitamin metabolic process | 5q31.2 |
| SLC23A2 | water-soluble vitamin metabolic process; sodium ion transport; response to oxidative stress; ion transport; nucleobase transport; molecular hydrogen transport; L-ascorbic acid metabolic process; vitamin metabolic process; nucleobase-containing compound metabolic process; small molecule metabolic process; transepithelial L-ascorbic acid transport; L-ascorbic acid transport | 20p13 |
| SLC23A3 | transmembrane transport | 2q35 |
| SLC24A1 | transmembrane transport; response to stimulus; response to light intensity; visual perception; calcium ion transport; ion transport; transport | 15q22 |
| SLC24A2 | visual perception; learning; memory; ion transport; potassium ion transport; sodium ion transport; long term synaptic depression; response to stimulus; transmembrane transport; long-term synaptic potentiation; cellular calcium ion homeostasis | 9p22.1 |
| SLC24A3 | calcium ion transmembrane transport; potassium ion transport; cation transport; ion transport; sodium ion transport; transmembrane transport; sodium ion export; potassium ion transmembrane transport | 20p13 |
| SLC24A4 | sodium ion transport; ion transport; transmembrane transport; potassium ion transport; calcium ion transport | 14q32.12 |
| SLC24A5 | ion transport; calcium ion transport; potassium ion transport; response to stimulus; transmembrane transport; sodium ion transport | 15q21.1 |
| SLC25A1 | mitochondrial citrate transport; triglyceride biosynthetic process; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process; transmembrane transport; long-chain fatty-acyl-CoA biosynthetic process; cellular lipid metabolic process; small molecule metabolic process | 22q11.21 |
| SLC25A10 | cellular nitrogen compound metabolic process; sulfur amino acid metabolic process; sulfur amino acid catabolic process; carbohydrate metabolic process; glucose metabolic process; gluconeogenesis; ion transport; mitochondrial transport; small molecule metabolic process; transmembrane transport; sulfide oxidation, using sulfide:quinone oxidoreductase; dicarboxylic acid transport | 17q25.3 |
| SLC25A11 | small molecule metabolic process; alpha-ketoglutarate transport; transport; gluconeogenesis; glucose metabolic process; carbohydrate metabolic process | 17p13.3 |
| SLC25A12 | carbohydrate metabolic process; response to calcium ion; transmembrane transport; glucose metabolic process; gluconeogenesis; aspartate transport; L-glutamate transport; malate-aspartate shuttle; small molecule metabolic process | 2q24 |
| SLC25A13 | transmembrane transport; response to calcium ion; cellular respiration; small molecule metabolic process; malate-aspartate shuttle; L-glutamate transport; amino acid transmembrane transport; carbohydrate metabolic process; glucose metabolic process; gluconeogenesis; ATP biosynthetic process; aspartate transport; transport; L-amino acid transport | 7q21.3 |
| SLC25A14 | aerobic respiration; transport; mitochondrial transport | Xq24 |
| SLC25A15 | small molecule metabolic process; cellular nitrogen compound metabolic process; transport; urea cycle; mitochondrial ornithine transport; cellular amino acid metabolic process | 13q14 |
| SLC25A15P5 | - | - |
| SLC25A16 | transmembrane transport; small molecule metabolic process; pantothenate metabolic process; coenzyme biosynthetic process; transport; water-soluble vitamin metabolic process; vitamin metabolic process | 10q21.3 |
| SLC25A17 | fatty acid beta-oxidation; ATP transport; small molecule metabolic process; fatty acid alpha-oxidation; transmembrane transport; fatty acid transport; cellular lipid metabolic process | 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 | transport; carnitine shuttle; cellular lipid metabolic process; small molecule metabolic process; regulation of fatty acid oxidation | 3p21.31 |
| SLC25A21 | transmembrane transport; lysine catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 14q11.2 |
| SLC25A21-AS1 | - | 14q13.3 |
| SLC25A22 | L-glutamate transport; transmembrane 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 | generation of precursor metabolites and energy; transport | 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 | mitochondrial transport; transport | 13q14.13 |
| SLC25A31 | transmembrane transport | 4q28.1 |
| SLC25A32 | mitochondrial transport; transport; water-soluble vitamin metabolic process; folic acid metabolic process; small molecule metabolic process; folic acid transport; 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 | ion transport; iron ion homeostasis | 8p21.2 |
| SLC25A38 | erythrocyte differentiation; transport; heme biosynthetic process | 3p22.1 |
| SLC25A39 | transport; heme biosynthetic process | 17q12 |
| SLC25A39P1 | - | - |
| SLC25A3P1 | - | 1p32.3 |
| SLC25A3P2 | - | 12q24.13 |
| SLC25A4 | apoptotic mitochondrial changes; ATP transport; adenine transport; ADP transport; viral reproduction; small molecule metabolic process; interspecies interaction between organisms; regulation of insulin secretion; glutamate uptake involved in synaptic transmission; transmembrane transport; negative regulation of necrotic cell death; energy reserve metabolic process; generation of precursor metabolites and energy; mitochondrial genome maintenance; transport | 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 | transmembrane transport; regulation of insulin secretion; interspecies interaction between organisms; small molecule metabolic process; viral reproduction; adenine transport; chromosome segregation; transport; energy reserve metabolic process | 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 | apoptotic process; energy reserve metabolic process; interspecies interaction between organisms; active induction of host immune response by virus; small molecule metabolic process; viral infectious cycle; virus-host interaction; transmembrane transport; viral reproduction; regulation of insulin secretion | Xp22.32 and Yp11.3 |
| SLC25A6P2 | - | 9p21.1 |
| SLC25A6P3 | - | - |
| SLC25A6P5 | - | 9q31.2 |
| SLC25A6P6 | - | 6q13 |
| SLC26A1 | ion transport; transmembrane transport; sulfate transport; ion transmembrane transport | 4p16.3 |
| SLC26A10 | regulation of Rho protein signal transduction; transmembrane transport | 12q13 |
| SLC26A11 | ion transport; sulfate transport; transmembrane transport | 17q25.3 |
| SLC26A2 | ion transport; transmembrane transport; sulfate transport; ossification | 5q31-q34 |
| SLC26A3 | ion transport; regulation of transcription, DNA-dependent; excretion; sulfate transport; ion transmembrane transport; transmembrane transport; anion transport | 7q31 |
| SLC26A4 | sulfate transport; chloride transport; ion transport; transmembrane transport; inorganic anion transport; sensory perception of sound; regulation of pH; regulation of protein localization; iodide transport | 7q31 |
| SLC26A4-AS1 | - | 7q22.3 |
| SLC26A5 | sensory perception of sound; sulfate transport; regulation of membrane potential; regulation of cell shape; transmembrane transport | 7q22.1 |
| SLC26A7 | transmembrane transport; oxalate transport; bicarbonate transport; sulfate transport; chloride transport; ion transport | 8q23 |
| SLC26A8 | oxalate transport; sulfate transport; spermatogenesis; ion transport; chloride transport; meiosis; multicellular organismal development; cell differentiation; transmembrane transport | 6p21 |
| SLC26A9 | transmembrane transport; sulfate transport; ion transmembrane transport; regulation of pH; ion transport; chloride transport | 1q32.1 |
| SLC27A1 | adiponectin-mediated signaling pathway; positive regulation of heat generation; response to insulin stimulus; long-chain fatty acid transport; cardiolipin biosynthetic process; transmembrane transport; cellular lipid metabolic process; medium-chain fatty acid transport; fatty acid metabolic process; phosphatidylethanolamine biosynthetic process; phosphatidic acid biosynthetic process; phosphatidylglycerol biosynthetic process; phosphatidylcholine biosynthetic process; negative regulation of phospholipid biosynthetic process; phosphatidylserine biosynthetic process; phosphatidylinositol biosynthetic process; small molecule metabolic process; response to cold; positive regulation of protein serine/threonine kinase activity | 19p13.11 |
| SLC27A2 | bile acid biosynthetic process; bile acid metabolic process; very long-chain fatty acid catabolic process; cellular lipid metabolic process; fatty acid beta-oxidation; fatty acid alpha-oxidation; small molecule metabolic process; methyl-branched fatty acid metabolic process | 15q21.2 |
| SLC27A3 | lipid metabolic process; fatty acid metabolic process | 1q21.3 |
| SLC27A4 | medium-chain fatty acid transport; lipid metabolic process; transport; response to nutrient; fatty acid transport; long-chain fatty acid transport; very long-chain fatty acid catabolic process; skin development; transmembrane transport | 9q34.11 |
| SLC27A5 | bile acid and bile salt transport; triglyceride mobilization; ketone body biosynthetic process; lipid metabolic process; fatty acid metabolic process; very long-chain fatty acid metabolic process; bile acid biosynthetic process; bile acid metabolic process; small molecule metabolic process; plasma membrane long-chain fatty acid transport | 19q13.43 |
| SLC27A6 | very long-chain fatty acid metabolic process; lipid metabolic process; fatty acid metabolic process; lipid transport; long-chain fatty acid transport; transmembrane transport | 5q23.3 |
| SLC28A1 | transmembrane transport; nucleoside transport; nucleobase-containing compound metabolic process | 15q25.3 |
| SLC28A2 | purine nucleoside transport; transmembrane transport; nucleobase-containing compound metabolic process; purine nucleoside transmembrane transport | 15q15 |
| SLC28A3 | purine nucleoside transmembrane transport; retina homeostasis; transmembrane transport; sodium ion export; purine base transport; pyrimidine base transport; pyrimidine nucleoside transport | 9q22.2 |
| SLC29A1 | transmembrane transport; regulation of excitatory postsynaptic membrane potential; cellular response to glucose stimulus; cellular response to hypoxia; lactation; nucleobase-containing compound metabolic process; nucleoside transport; uridine transport; sleep | 6p21.1 |
| SLC29A2 | lactation; nucleobase-containing compound metabolic process; cell proliferation; uridine transport; adenine transport; guanine transport; nucleoside transport; cellular response to insulin stimulus; hypoxanthine transport; thymine transport; transmembrane transport | 11q13 |
| SLC29A3 | transmembrane transport | 10q22.1 |
| SLC29A4 | transmembrane transport | 7p22.1 |
| SLC29A4P1 | - | 7p11.2 |
| SLC2A1 | regulation of insulin secretion; water-soluble vitamin metabolic process; vitamin metabolic process; energy reserve metabolic process; carbohydrate metabolic process; response to osmotic stress; carbohydrate transport; hexose transport; glucose transport; L-ascorbic acid metabolic process; hexose transmembrane transport; transmembrane transport; cellular response to glucose starvation; small molecule 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 | carbohydrate transport; transmembrane transport | 6q23.2 |
| SLC2A13 | transmembrane transport | 12q12 |
| SLC2A14 | multicellular organismal development; spermatogenesis; carbohydrate transport; cell differentiation | 12p13.31 |
| SLC2A2 | regulation of insulin secretion; energy reserve metabolic process; transmembrane transport; small molecule metabolic process; response to peptide hormone stimulus; hexose transmembrane transport; endocrine pancreas development; glucose transport; fructose transport; response to glucose stimulus; hexose transport; carbohydrate transport; carbohydrate metabolic process | 3q26.1-q26.2 |
| SLC2A3 | L-ascorbic acid metabolic process; water-soluble vitamin metabolic process; carbohydrate transport; hexose transport; glucose transport; small molecule metabolic process; transmembrane transport; vitamin metabolic process; carbohydrate metabolic process | 12p13.3 |
| SLC2A3P2 | - | 1p31.3 |
| SLC2A3P4 | - | 8q21.3 |
| SLC2A4 | response to ethanol; glucose transport; cellular response to insulin stimulus; glucose homeostasis; transmembrane transport; brown fat cell differentiation; glucose import; carbohydrate transport; small molecule metabolic process; hexose transport; carbohydrate metabolic process | 17p13 |
| SLC2A4RG | regulation of transcription, DNA-dependent | 20q13.33 |
| SLC2A5 | hexose transport; fructose transport; glucose transport; carbohydrate metabolic process; carbohydrate transport; small molecule metabolic process; transmembrane transport | 1p36.2 |
| SLC2A6 | carbohydrate transport; glucose transport; transmembrane transport | 9q34 |
| SLC2A7 | transmembrane transport; carbohydrate transport | 1p36.2 |
| SLC2A8 | insulin receptor signaling pathway; carbohydrate transport; response to hypoxia; glucose transport; hexose transmembrane transport; male meiosis I; transmembrane transport; carbohydrate metabolic process | 9q33.3 |
| SLC2A9 | hexose transmembrane transport; carbohydrate transport; urate metabolic process; transmembrane transport; glucose transport | 4p16.1 |
| SLC30A1 | transmembrane transport; negative regulation of zinc ion import; negative regulation of neurotransmitter secretion; cellular zinc ion homeostasis; cellular calcium ion homeostasis; cadmium ion transmembrane transport; zinc ion transport; in utero embryonic development; negative regulation of calcium 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; zinc ion homeostasis; response to vitamin A; response to zinc ion; regulation of sequestering of zinc ion; response to toxin; lactation; zinc ion transmembrane transport | 15q21.1|15q21.1 |
| SLC30A5 | transmembrane transport; zinc ion transmembrane transport; cobalt ion transport; zinc ion transport; cellular zinc ion homeostasis; response to zinc ion; regulation of proton transport | 5q12.1 |
| SLC30A6 | transmembrane transport; zinc ion transport | 2p22.3 |
| SLC30A7 | transmembrane transport; sequestering of zinc ion; zinc ion transport | 1p21.2 |
| SLC30A8 | zinc ion transport; cellular zinc ion homeostasis; response to glucose stimulus; regulation of sequestering of zinc ion; zinc ion transmembrane transport; response to interleukin-1; regulation of vesicle-mediated transport; insulin secretion; positive regulation of insulin secretion; sequestering of zinc ion; transmembrane transport; glucose homeostasis; response to interferon-gamma | 8q24.11 |
| SLC30A9 | transmembrane transport; zinc ion transport; regulation of transcription, DNA-dependent; nucleotide-excision repair | 4p13 |
| SLC31A1 | transmembrane transport; ion transport; copper ion transport; copper ion transmembrane transport | 9q32 |
| SLC31A1P1 | - | 3q26.31 |
| SLC31A2 | ion transport; copper ion transport; copper ion transmembrane transport | 9q32 |
| SLC32A1 | transmembrane transport; sodium ion export; amino acid transmembrane transport; ion transport; synaptic transmission; neurotransmitter secretion; aging; gamma-aminobutyric acid transport; proton transport | 20q11.23 |
| SLC33A1 | transmembrane transport; transport; cell death; acetyl-CoA transport | 3q25.31 |
| SLC34A1 | bone remodeling; ion transport; sodium ion transport; transmembrane transport; phosphate ion homeostasis; response to mercury ion; response to cadmium ion; sodium-dependent phosphate transport; response to magnesium ion; response to lead ion; phosphate ion transport | 5q35 |
| SLC34A2 | response to estradiol stimulus; phosphate ion transmembrane transport; response to estrogen stimulus; sodium-dependent phosphate transport; transmembrane transport; aging; phosphate ion transport; sodium ion transport; ion transport; cellular phosphate ion homeostasis; in utero embryonic development; response to fructose stimulus | 4p15.2 |
| SLC34A3 | transmembrane transport; ion transport; sodium ion transport; sodium-dependent phosphate transport; phosphate ion transport; cellular phosphate ion homeostasis | 9q34 |
| SLC35A1 | protein modification process; carbohydrate metabolic process; transport; CMP-N-acetylneuraminate transport; transmembrane transport | 6q15 |
| SLC35A2 | UDP-galactose transport; galactose metabolic process; UDP-galactose transmembrane transport; transmembrane transport | Xp11.23-p11.22 |
| SLC35A3 | UDP-N-acetylglucosamine transport; transport; transmembrane transport; UDP-N-acetylglucosamine metabolic process | 1p21 |
| SLC35A4 | transport; carbohydrate transport | 5q31.3 |
| SLC35A5 | transport | 3q13.2 |
| SLC35B1 | transport; carbohydrate transport; transmembrane transport; UDP-galactose transmembrane transport | 17q21.33 |
| SLC35B3 | transmembrane transport | 6p24.3 |
| SLC35B4 | transmembrane transport; UDP-xylose transport; UDP-N-acetylglucosamine transport; carbohydrate transport | 7q33 |
| SLC35C1 | carbohydrate transport; lipid glycosylation; transmembrane transport | 11p11.2 |
| SLC35C2 | transport | 20q13.12 |
| SLC35D1 | transmembrane transport; carbohydrate transport; xenobiotic metabolic process; UDP-glucuronic acid transport; UDP-N-acetylgalactosamine transport; chondroitin sulfate biosynthetic process; UDP-glucuronate biosynthetic process; small molecule metabolic process | 1p32-p31 |
| SLC35D2 | transmembrane transport; nucleotide-sugar transport | 9q22.32 |
| SLC35D3 | carbohydrate transport; 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 | ion transport; amino acid transport; transmembrane transport | 5q33.1 |
| SLC36A2 | ion transport; proton transport; glycine transport; ion transmembrane transport; proline transmembrane transport; transmembrane transport; amino acid transport | 5q33.1 |
| SLC36A3 | - | 5q33.1 |
| SLC36A4 | L-alanine transport; proline transport; amino acid transport; transport; tryptophan transport | 11q21 |
| SLC37A1 | carbohydrate transport; transmembrane transport | 21q22.3 |
| SLC37A2 | transmembrane transport; carbohydrate transport | 11q24.2 |
| SLC37A3 | transmembrane transport; carbohydrate transport | 7q34 |
| SLC37A4 | transmembrane transport; small molecule metabolic process; glucose homeostasis; glucose-6-phosphate transport; glucose transport; carbohydrate metabolic process; glucose metabolic process; transport; carbohydrate transport; hexose transport | 11q23.3 |
| SLC38A1 | sodium ion transport; neurotransmitter uptake; ion transport; amino acid transport; synaptic transmission; neutral amino acid transport; transmembrane transport | 12q13.11 |
| SLC38A10 | amino acid transport; sodium ion transport; ion transport | 17q25.3 |
| SLC38A11 | sodium ion transport; amino acid transport; ion transport | 2q24.3 |
| SLC38A2 | glutamate secretion; transmembrane transport; sodium ion transport; ion transport; neurotransmitter secretion; synaptic transmission; amino acid transport | 12q |
| SLC38A3 | transmembrane transport; histidine transport; amino acid transport; sodium ion transport; ion transport; asparagine transport; glutamine transport; L-alanine transport | 3p21.3 |
| SLC38A4 | transmembrane transport; amino acid transport; sodium ion transport; ion transport | 12q13 |
| SLC38A5 | transmembrane transport; amino acid transport; ion transport | Xp11.23 |
| SLC38A6 | sodium ion transport; ion transport; amino acid transport | 14q23.1 |
| SLC38A7 | L-amino acid transport; glutamine transport; sodium ion transport; ion transport | 16q21 |
| SLC38A8 | ion transport; sodium ion transport; amino acid transport | 16q23.3 |
| SLC38A9 | ion transport; sodium ion transport; amino acid transport | 5q11.2 |
| SLC39A1 | zinc ion transmembrane transport; transmembrane transport; cation transport | 1q21 |
| SLC39A10 | zinc ion transport; transmembrane transport; ion transport | 2q32.3 |
| SLC39A11 | ion transport; zinc ion transport; transmembrane transport | 17q21.31 |
| SLC39A12 | transmembrane transport; zinc ion transport; ion transport | 10p12.33 |
| SLC39A13 | ion transport; cellular zinc ion homeostasis; transmembrane transport; zinc ion transmembrane transport | 11p11.2 |
| SLC39A14 | zinc ion import; zinc ion transmembrane transport; transmembrane transport; ion transport; cellular zinc ion homeostasis | 8p21.3 |
| SLC39A2 | zinc ion transmembrane transport; transmembrane transport; zinc ion transport; ion transport | 14q11.2 |
| SLC39A3 | transmembrane transport; ion transport | 19p13.3 |
| SLC39A4 | ion transport; cellular zinc ion homeostasis; cellular response to zinc ion starvation; transmembrane transport | 8q24.3 |
| SLC39A5 | transmembrane transport; ion transport; cellular response to zinc ion starvation; zinc ion transport | 12q13.3 |
| SLC39A6 | zinc ion transmembrane transport; ion transport; zinc ion import; transmembrane transport; cellular zinc ion homeostasis | 18q12.2 |
| SLC39A7 | transmembrane transport; zinc ion transport; ion transport | 6p21.3 |
| SLC39A8 | ion transport; zinc ion transport; transmembrane transport | 4q22-q24 |
| SLC39A9 | ion transport; zinc ion transport; transmembrane transport | 14q24.1 |
| SLC3A1 | transmembrane transport; L-cystine transport; basic amino acid transport; amino acid transport; ion transport; amino acid transmembrane transport; carbohydrate metabolic process; cellular amino acid metabolic process | 2p16.3 |
| SLC3A2 | leucine import; carbohydrate metabolic process; ion transport; calcium ion transport; amino acid transport; blood coagulation; tryptophan transport; cell growth; leukocyte migration; transmembrane transport | 11q13 |
| SLC40A1 | multicellular organismal iron ion homeostasis; iron ion transmembrane transport; lymphocyte homeostasis; endothelium development; ion transport; transmembrane transport; spleen trabecula formation; cellular iron ion homeostasis; apoptotic process; anatomical structure morphogenesis | 2q32 |
| SLC41A1 | transmembrane transport | 1q32.1 |
| SLC41A2 | transmembrane transport | 12q23.3 |
| SLC41A3 | - | 3q21.2 |
| SLC43A1 | neutral amino acid transport; amino acid transport; ion transport; amino acid transmembrane transport; transmembrane transport | 11q12.1 |
| SLC43A2 | amino acid transmembrane transport; ion transport; amino acid transport; transmembrane transport | 17p13.3 |
| SLC43A3 | transmembrane transport | 11q11 |
| SLC44A1 | choline transport; transmembrane transport | 9q31.2 |
| SLC44A2 | transmembrane transport; signal transduction; choline transport; positive regulation of I-kappaB kinase/NF-kappaB cascade | 19p13.1 |
| SLC44A3 | transmembrane transport | 1p21.3 |
| SLC44A4 | transmembrane transport | 6p21.3 |
| SLC44A5 | transmembrane transport | 1p31.1 |
| SLC45A1 | carbohydrate transport; transmembrane transport | 1p36.23 |
| SLC45A2 | visual perception; melanin biosynthetic process; response to stimulus; developmental pigmentation | 5p13.2 |
| SLC45A3 | transmembrane transport | 1q32.1 |
| SLC45A4 | transport | 8q24.3 |
| SLC46A1 | vitamin metabolic process; transmembrane transport; folic acid metabolic process; small molecule metabolic process; folic acid transport; cellular iron ion homeostasis; water-soluble vitamin metabolic process | 17q11.2 |
| SLC46A2 | transport; transmembrane 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 | ion transport; anion transport; chloride transport; cellular ion homeostasis; bicarbonate transport; ion transmembrane transport; transmembrane transport | 17q21.31 |
| SLC4A10 | bicarbonate transport; regulation of pH; ion transmembrane transport; transmembrane transport; sodium ion transport; chloride transport; ion transport | 2q24.2 |
| SLC4A11 | fluid transport; borate transport; sodium ion transmembrane transport; phosphoenolpyruvate-dependent sugar phosphotransferase system; sodium ion transport; bicarbonate transport; borate transmembrane transport; proton transport; cellular cation homeostasis | 20p12 |
| SLC4A1AP | - | 2p23.3 |
| SLC4A2 | ion transport; anion transport; bicarbonate transport; ion transmembrane transport; transmembrane transport | 7q36.1 |
| SLC4A3 | transmembrane transport; regulation of intracellular pH; ion transmembrane transport; bicarbonate transport; ion transport; transport | 2q36 |
| SLC4A4 | transmembrane transport; bicarbonate transport; sodium ion transport; ion transport; transport | 4q21 |
| SLC4A5 | ion transport; sodium ion transport; bicarbonate transport; transmembrane transport | 2p13 |
| SLC4A7 | ion transport; sodium ion transport; bicarbonate transport; transmembrane transport | 3p22 |
| SLC4A8 | transmembrane transport; ion transport; sodium ion transport; bicarbonate transport | 12q13.13 |
| SLC4A9 | bicarbonate transport; transmembrane transport; ion transport | 5q31 |
| SLC50A1 | transport; carbohydrate transport; glucoside transport; positive regulation of gene expression, epigenetic | 1q22 |
| SLC51A | - | 3q29 |
| SLC51B | - | 15q22.31 |
| SLC52A1 | riboflavin transport; transport | 17p13.2 |
| SLC52A2 | riboflavin transport; transport | 8q24.3 |
| SLC52A3 | sensory perception of sound; transport; riboflavin transport; cellular response to heat | 20p13 |
| SLC5A1 | hexose transport; glucose transport; hexose transmembrane transport; small molecule metabolic process; intestinal absorption; transmembrane transport; carbohydrate transport; sodium ion transport; ion transport; carbohydrate metabolic process; metanephros development | 22q12.3 |
| SLC5A10 | sodium ion transport; ion transport; transmembrane transport | 17p11.2 |
| SLC5A11 | sodium ion transport; ion transport; apoptotic process; carbohydrate transport; transmembrane transport | 16p12.1 |
| SLC5A12 | transmembrane transport; sodium ion transport; ion transport | 11p14.2 |
| SLC5A2 | carbohydrate transport; glucose transport; transmembrane transport; sodium ion transport; carbohydrate metabolic process; transport; ion transport | 16p11.2 |
| SLC5A3 | inositol metabolic process; transport; ion transport; sodium ion transport; peripheral nervous system development; myo-inositol transport; regulation of respiratory gaseous exchange; transmembrane transport | 21q22.12 |
| SLC5A4 | sodium ion transport; 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 | small molecule metabolic process; transmembrane transport; pantothenate metabolic process; pantothenate transmembrane transport; biotin transport; sodium ion transport; ion transport; transport; biotin metabolic process; water-soluble vitamin metabolic process; vitamin metabolic process | 2p23 |
| SLC5A7 | transmembrane transport; choline transport; acetylcholine biosynthetic process; neuromuscular synaptic transmission; synaptic transmission, cholinergic; synaptic transmission; neurotransmitter secretion; sodium ion transport; ion transport | 2q12 |
| SLC5A8 | sodium ion transport; ion transport; apoptotic process; transmembrane transport | 12q23.1 |
| SLC5A9 | ion transport; sodium ion transport; transmembrane transport | 1p33 |
| SLC6A1 | response to calcium ion; response to cocaine; transmembrane transport; gamma-aminobutyric acid import; transport; protein homooligomerization; response to estradiol stimulus; negative regulation of synaptic transmission, GABAergic; response to purine-containing compound; positive regulation of gamma-aminobutyric acid secretion; response to lead ion; response to organic nitrogen; response to sucrose stimulus; response to toxin; learning; neurotransmitter secretion; synaptic transmission | 3p25.3 |
| SLC6A11 | neurotransmitter transport; synaptic transmission; neurotransmitter secretion; brain development; response to drug; transmembrane transport | 3p25.3 |
| SLC6A12 | response to organic substance; cellular hyperosmotic response; transmembrane transport; transport; ion transport; amino acid transport; synaptic transmission; neurotransmitter secretion; cellular water homeostasis | 12p13 |
| SLC6A13 | transmembrane transport; neurotransmitter transport; synaptic transmission; neurotransmitter secretion | 12p13.3 |
| SLC6A14 | ion transport; transmembrane transport; amino acid transmembrane transport; response to toxin; amino acid transport; transport; cellular amino acid metabolic process; neurotransmitter transport | Xq23 |
| SLC6A15 | L-amino acid transport; sodium ion transport; sodium ion export; transmembrane transport; proline transmembrane transport; proline transport; leucine transport; neutral amino acid transport; amino acid transport; neurotransmitter transport; ion transport | 12q21.3 |
| SLC6A16 | neurotransmitter transport | 19q13.33 |
| SLC6A17 | alanine transport; proline transport; leucine transport; glycine transport; neutral amino acid transport; neurotransmitter transport | 1p13.3 |
| SLC6A18 | transmembrane transport; response to osmotic stress; amino acid transport; ion transport; neurotransmitter transport | 5p15.33 |
| SLC6A19 | amino acid transmembrane transport; ion transport; neurotransmitter transport; amino acid transport; response to nutrient; transmembrane transport | 5p15.33 |
| SLC6A2 | transport; monoamine transport; response to pain; transmembrane transport; synaptic transmission; neurotransmitter transport | 16q12.2 |
| SLC6A20 | ion transport; neurotransmitter transport; amino acid transmembrane transport; amino acid transport; glycine transport; proline transport; transmembrane transport | 3p21.3 |
| SLC6A3 | lactation; aging; transmembrane transport; sensory perception of smell; locomotory behavior; synaptic transmission; neurotransmitter transport; transport; cell death; response to iron ion; monoamine transport; prepulse inhibition; positive regulation of multicellular organism growth; response to cAMP; response to ethanol; response to drug; dopamine catabolic process; adenohypophysis development; response to nicotine; dopamine transport; dopamine biosynthetic process; response to cocaine; neurotransmitter biosynthetic process; regulation of dopamine metabolic process | 5p15.3 |
| SLC6A4 | negative regulation of cerebellar granule cell precursor proliferation; neurotransmitter transport; serotonin transport; brain development; response to nutrient; memory; circadian rhythm; response to toxin; response to organic substance; positive regulation of gene expression; monoamine transport; thalamus development; negative regulation of synaptic transmission, dopaminergic; response to estradiol stimulus; vasoconstriction; response to drug; sperm ejaculation; negative regulation of neuron differentiation; positive regulation of cell cycle; cellular response to cGMP; cellular response to retinoic acid; serotonin uptake; protein homooligomerization; protein oligomerization; response to hypoxia | 17q11.2 |
| SLC6A5 | transmembrane transport; transport; synaptic transmission; neurotransmitter transport | 11p15.1 |
| SLC6A6 | amino acid transmembrane transport; cellular amino acid metabolic process; transport; ion transport; neurotransmitter transport; amino acid transport; transmembrane transport | 3p25.1 |
| SLC6A6P1 | - | 21q21.1 |
| SLC6A7 | amino acid transport; transmembrane transport; proline transport; neurotransmitter transport; transport | 5q32 |
| SLC6A8 | creatine metabolic process; transport; ion transport; sodium ion transport; neurotransmitter transport; muscle contraction; creatine transport; cellular nitrogen compound metabolic process; small molecule metabolic process | Xq28 |
| SLC6A9 | amino acid transmembrane transport; transport; neurotransmitter transport; transmembrane transport | 1p33 |
| SLC7A1 | transport; ion transport; amino acid transport; L-amino acid transport; regulation of TOR signaling cascade; transmembrane transport | 13q12.3 |
| SLC7A10 | ion transport; blood coagulation; amino acid transport; D-alanine transport; D-serine transport; L-serine transport; neutral amino acid transport; transmembrane transport; leukocyte migration | 19q13.1 |
| SLC7A11 | response to oxidative stress; response to toxin; blood coagulation; brain development; response to nicotine; amino acid transport; ion transport; lens fiber cell differentiation; leukocyte migration; transmembrane transport | 4q28-q32 |
| SLC7A11-AS1 | - | 4q28.3 |
| SLC7A13 | transport | 8q21.3 |
| SLC7A14 | transport; negative regulation of phosphatase activity | 3q26.2 |
| SLC7A15P | - | 2p24.1 |
| SLC7A2 | ion transport; transport; nitric oxide biosynthetic process; cellular amino acid metabolic process; nitric oxide production involved in inflammatory response; amino acid transport; basic amino acid transport; regulation of macrophage activation; regulation of inflammatory response; transmembrane transport | 8p22 |
| SLC7A3 | transmembrane transport; ion transmembrane transport; regulation of TOR signaling cascade; L-amino acid transport; amino acid transport; cation transport; ion transport | Xq13.1 |
| SLC7A4 | transport; basic amino acid transport; cellular amino acid metabolic process | 22q11.21 |
| SLC7A5 | ion transport; transport; amino acid transmembrane transport; cellular amino acid metabolic process; transmembrane transport; leukocyte migration; cell differentiation; neutral amino acid transport; blood coagulation; nervous system development; multicellular organismal development; amino acid transport | 16q24.3 |
| SLC7A5P2 | - | 16p12.2 |
| SLC7A6 | protein complex assembly; transmembrane transport; leukocyte migration; blood coagulation; amino acid transport; ion transport; transport; cellular amino acid metabolic process; amino acid transmembrane transport | 16q22.1 |
| SLC7A6OS | protein transport | 16q22.1 |
| SLC7A7 | transmembrane transport; leukocyte migration; blood coagulation; amino acid transport; ion transport; cellular amino acid metabolic process; protein complex assembly; transport | 14q11.2 |
| SLC7A8 | transmembrane transport; metal ion homeostasis; leukocyte migration; neutral amino acid transport; organic cation transport; response to toxin; blood coagulation; amino acid transport; ion transport; transport; cellular amino acid metabolic process; amino acid transmembrane transport | 14q11.2 |
| SLC7A9 | transmembrane transport; cellular amino acid metabolic process; L-cystine transport; neutral amino acid transport; blood coagulation; protein complex assembly; amino acid transmembrane transport; amino acid transport; ion transport; transport; leukocyte migration | 19q13.1 |
| SLC8A1 | regulation of sodium ion transport; response to hypoxia; sodium ion export; cellular response to cAMP; calcium ion transmembrane transport; calcium ion transport into cytosol; telencephalon development; ion transport; sodium ion transport; calcium ion transport; cellular calcium ion homeostasis; muscle contraction; cell communication; response to nutrient; blood coagulation; cytosolic calcium ion transport; transmembrane transport; regulation of calcium ion transport; response to hydrogen peroxide; response to drug; response to ATP; response to glucose stimulus | 2p22.1 |
| SLC8A1-AS1 | - | 2p22.1 |
| SLC8A2 | calcium ion transport into cytosol; transmembrane transport; response to vitamin D; telencephalon development; blood coagulation; cell communication; calcium ion transport; sodium ion transport; ion transport | 19q13.3 |
| SLC8A3 | blood coagulation; cell communication; sodium ion transport; ion transport; calcium ion transport; cellular response to cAMP; calcium ion transport into cytosol; transmembrane transport; telencephalon development | 14q24.1 |
| SLC8B1 | ion transport; sodium ion transport; transmembrane transport; calcium ion transport; response to stimulus | 12q24.13 |
| SLC9A1 | response to organic cyclic compound; sodium ion transport; regulation of pH; intracellular protein kinase cascade; response to acidity; cation transport; ion transport; response to acid; proton transport; sodium ion export; transmembrane transport; positive regulation of anti-apoptosis; response to drug; cell differentiation; cell growth | 1p36.1-p35 |
| SLC9A2 | proton transport; transmembrane transport; sodium ion export; protein localization; regulation of pH; sodium ion transport; cation transport; ion transport | 2q11.2 |
| SLC9A3 | cation transport; transmembrane transport; response to glucocorticoid stimulus; circadian rhythm; receptor-mediated endocytosis; regulation of pH; ion transport; regulation of sodium ion transport | 5p15.3 |
| SLC9A3P1 | - | 10q11.23 |
| SLC9A3P2 | - | 22q11.21 |
| SLC9A3P3 | - | 10q11.23 |
| SLC9A3R1 | negative regulation of ERK1 and ERK2 cascade; renal absorption; activation of phospholipase C activity by dopamine receptor signaling pathway; negative regulation of protein kinase B signaling cascade; regulation of protein kinase activity; regulation of excretion; glutathione transport; cellular protein localization; bile acid secretion; renal sodium ion transport; negative regulation of sodium:hydrogen antiporter activity; negative regulation of cell migration; actin cytoskeleton organization; cellular phosphate ion homeostasis; regulation of sodium:hydrogen antiporter activity; microvillus assembly; cAMP-mediated signaling; Wnt receptor signaling pathway; negative regulation of phosphatidylinositol 3-kinase cascade; negative regulation of sodium ion transport; negative regulation of platelet-derived growth factor receptor signaling pathway; negative regulation of cell proliferation; activation of adenylate cyclase activity by dopamine receptor signaling pathway; apoptotic process; protein complex assembly | 17q25.1 |
| SLC9A3R2 | protein complex assembly; positive regulation of membrane potential; inner ear development | 16p13.3 |
| SLC9A4 | ion transport; cation transport; sodium ion transport; regulation of pH; transmembrane transport | 2q12.1 |
| SLC9A5 | transport; ion transport; cation transport; sodium ion transport; regulation of pH; proton transport; transmembrane transport | 16q22.1 |
| SLC9A6 | cation transport; sodium ion transport; regulation of pH; transmembrane transport; ion transport; transport | Xq26.3 |
| SLC9A7 | ion transport; cation transport; potassium ion transport; sodium ion transport; regulation of pH; transmembrane transport | Xp11.3|Xp11.3 |
| SLC9A7P1 | - | 12q23.1 |
| SLC9A8 | sodium ion transport; regulation of intracellular pH; proton transport; regulation of pH; sodium ion export; potassium ion transport; cation transport; ion transport; transmembrane transport | 20q13.13 |
| SLC9A9 | regulation of pH; transmembrane transport; sodium ion transport; cation transport; ion transport | 3q24 |
| SLC9B1 | cation transport; transmembrane transport | 4q24 |
| SLC9B2 | transmembrane transport; cation transport; sodium ion transport; proton transport | 4q24 |
| SLC9C1 | cation transport; sodium ion transport; multicellular organismal development; spermatogenesis; cell differentiation; sperm motility; transmembrane transport | 3q13.2 |
| SLC9C2 | transmembrane transport; sodium ion transport; cation transport | 1q25.1 |
| SLCO1A2 | bile acid and bile salt transport; ion transport; bile acid metabolic process; transmembrane transport; small molecule metabolic process; sodium-independent organic anion transport; organic anion transport | 12p12 |
| SLCO1B1 | transmembrane transport; ion transport; small molecule metabolic process; sodium-independent organic anion transport; bile acid metabolic process; bile acid and bile salt transport; organic anion transport | 12p |
| SLCO1B3 | 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 |
| SLCO1B7 | - | 12p12.2 |
| SLCO1C1 | ion transport; transmembrane transport; sodium-independent organic anion transport | 12p12.2 |
| SLCO2A1 | sodium-independent organic anion transport; lipid transport; transmembrane transport | 3q21 |
| SLCO2B1 | organic anion transport; ion transport; sodium-independent organic anion transport; transmembrane transport | 11q13 |
| SLCO3A1 | ion transport; sodium-independent organic anion transport; transmembrane transport | 15q26 |
| SLCO4A1 | transmembrane transport; sodium-independent organic anion transport; thyroid hormone metabolic process; ion transport | 20q13.33 |
| SLCO4A1-AS1 | - | 20q13.33 |
| SLCO4C1 | spermatogenesis; transmembrane transport; sodium-independent organic anion transport; multicellular organismal development; ion transport; cell differentiation | 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 | cell differentiation; retinal ganglion cell axon guidance; multicellular organismal development; dorsal/ventral axon guidance; establishment of nucleus localization; negative regulation of axon extension involved in axon guidance; axon extension involved in axon guidance; forebrain morphogenesis; negative chemotaxis; negative regulation of synapse assembly; chemorepulsion involved in embryonic olfactory bulb interneuron migration; spinal cord development; motor axon guidance; brain development; axon guidance; nervous system development; tangential migration from the subventricular zone to the olfactory bulb | 10q23.3-q24 |
| SLIT2 | negative regulation of retinal ganglion cell axon guidance; negative regulation of neutrophil chemotaxis; negative regulation of mononuclear cell migration; ureteric bud development; negative regulation of protein phosphorylation; negative regulation of cellular response to growth factor stimulus; positive regulation of axonogenesis; cell migration involved in sprouting angiogenesis; negative regulation of leukocyte chemotaxis; multicellular organismal development; nervous system development; axon guidance; cellular response to hormone stimulus; negative regulation of cell migration; negative regulation of actin filament polymerization; cellular response to heparin; motor axon guidance; negative regulation of chemokine-mediated signaling pathway; apoptotic process involved in luteolysis; response to cortisol stimulus; negative regulation of small GTPase mediated signal transduction; retinal ganglion cell axon guidance; Roundabout signaling pathway; positive regulation of apoptotic process; negative regulation | 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; nucleotide-excision repair; apoptotic process | 10q24.33 |
| SLMAP | muscle contraction; protein folding | 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 | apoptotic process; regulation of transcription, DNA-dependent | 15q22.1 |
| SLU7 | nuclear mRNA splicing, via spliceosome; nuclear mRNA 3'-splice site recognition; alternative nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions; intracellular protein transport; cellular response to stress | 5q33.3 |
| SLURP1 | cell adhesion; cell activation | 8q24.3 |
| SLX4 | nucleotide-excision repair; positive regulation of catalytic activity; DNA double-strand break processing involved in repair via single-strand annealing; DNA recombination; DNA repair; double-strand break repair via homologous recombination | 16p13.3 |
| SLX4IP | - | 20p12.2 |
| SMA4 | - | 5q13.2 |
| SMA5 | - | 5q13 |
| SMAD1 | positive regulation of cartilage development; protein phosphorylation; cellular response to organic cyclic compound; ureteric bud development; mesodermal cell fate commitment; kidney development; osteoblast fate commitment; MAPK cascade; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; inflammatory response; signal transduction; transforming growth factor beta receptor signaling pathway; SMAD protein complex assembly; gamete generation; negative regulation of cell proliferation; embryonic pattern specification; response to organic nitrogen; positive regulation of gene expression; midbrain development; positive regulation of dendrite morphogenesis; positive regulation of anti-apoptosis; positive regulation of osteoblast differentiation; homeostatic process; response to drug; wound healing; primary miRNA processing; hindbrain development; BMP signaling pathway | 4q31 |
| SMAD1-AS1 | - | 4q31.21 |
| SMAD2 | embryonic foregut morphogenesis; response to cholesterol; pericardium development; palate development; regulation of binding; embryonic cranial skeleton morphogenesis; developmental growth; paraxial mesoderm morphogenesis; gastrulation; 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; positive regulation of transcription, DNA-dependent; zygotic specification of dorsal/ventral axis; SMAD protein complex assembly; common-partner SMAD protein phosphorylation; transforming growth factor beta receptor signaling pathway; mesoderm formation; in utero embryonic development; ureteric bud development; organ growth; primary miRNA processing; pancreas development; lung development; insulin secretion; intracellular signal transduction; cell fa | 18q21.1 |
| SMAD3 | negative regulation of mitotic cell cycle; paraxial mesoderm morphogenesis; negative regulation of osteoblast proliferation; positive regulation of transcription, DNA-dependent; negative regulation of osteoblast differentiation; cell-cell junction organization; negative regulation of apoptotic process; positive regulation of transcription factor import into nucleus; negative regulation of protein catabolic process; T cell activation; wound healing; positive regulation of catenin import into nucleus; positive regulation of stress fiber assembly; positive regulation of canonical Wnt receptor signaling pathway; lens fiber cell differentiation; negative regulation of wound healing; transdifferentiation; pericardium development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of focal adhesion assembly; developmental growth; embryonic foregut morphogenesis; embryonic cranial skeleton morphogenesis; regulation of epithelial cell proliferation; negative regulation of inflamm | 15q22.33 |
| SMAD4 | neuron fate commitment; developmental growth; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of protein catabolic process; regulation of transforming growth factor beta2 production; somite rostral/caudal axis specification; positive regulation of transforming growth factor beta receptor signaling pathway; BMP signaling pathway; negative regulation of cell growth; tissue morphogenesis; sebaceous gland development; formation of anatomical boundary; regulation of binding; regulation of hair follicle development; palate development; positive regulation of SMAD protein import into nucleus; SMAD protein signal transduction; negative regulation of cell death; nephrogenic mesenchyme morphogenesis; metanephric mesenchyme morphogenesis; response to transforming growth factor beta stimulus; regulation of transforming growth factor beta receptor signaling pathway; branching | 18q21.1 |
| SMAD5 | positive regulation of transcription, DNA-dependent; BMP signaling pathway; embryonic pattern specification; transforming growth factor beta receptor signaling pathway; signal transduction | 5q31 |
| SMAD6 | immune response; response to laminar fluid shear stress; cell-substrate adhesion; negative regulation of BMP signaling pathway; negative regulation of transforming growth factor beta receptor 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; ureteric bud development; negative regulation of apoptotic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; response to estrogen stimulus; positive regulation of S phase of mitotic cell cycle; negative regulation of pathway-restricted SMAD protein phosphorylation | 15q21-q22 |
| SMAD7 | ventricular septum morphogenesis; intracellular signal transduction; positive regulation of protein ubiquitination; cellular protein complex localization; response to laminar fluid shear stress; adherens junction assembly; negative regulation of peptidyl-serine phosphorylation; regulation of activin receptor signaling pathway; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; ventricular cardiac muscle tissue morphogenesis; negative regulation of sequence-specific DNA binding transcription factor activity; positive regulation of anti-apoptosis; artery morphogenesis; negative regulation of epithelial to mesenchymal transition; negative regulation of pathway-restricted SMAD protein phosphorylation; pathway-restricted SMAD protein phosphorylation; regulation of ventricular cardiomyocyte membrane depolarization; regulation of cardiac muscle contraction; protein stabilization; negative regulation of ubiquitin-protein ligase activity; negative regulation of BMP signaling pathway; neg | 18q21.1 |
| SMAD9 | hindbrain development; midbrain development; BMP signaling pathway; positive regulation of cell differentiation; transforming growth factor beta receptor signaling pathway; protein phosphorylation; Mullerian duct regression; response to hypoxia; ureteric bud development; positive regulation of transcription, DNA-dependent; cellular response to organic cyclic compound | 13q12-q14 |
| SMAD9-AS1 | - | - |
| SMAGP | - | 12q13.13 |
| SMAP1 | positive regulation of erythrocyte differentiation; regulation of ARF GTPase activity | 6q13 |
| SMAP2 | regulation of ARF GTPase activity | 1p35.3-p34.1 |
| SMARCA1 | transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; ATP-dependent chromatin remodeling; neuron differentiation; chromatin remodeling; brain development | Xq25 |
| SMARCA2 | positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; aortic smooth muscle cell differentiation; negative regulation of cell growth; negative regulation of cell proliferation; nervous system development; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; chromatin remodeling; negative regulation of transcription from RNA polymerase II promoter | 9p22.3 |
| SMARCA4 | negative regulation of S phase of mitotic cell cycle; nucleosome disassembly; neural retina development; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; 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; chromatin remodeling; positive regulation by host of viral transcription; negative regulation of cell growth; nervous system development; regulation of transcription, DNA-dependent | 19p13.2 |
| SMARCA5 | chromatin silencing at rDNA; ATP catabolic process; double-strand break repair; chromatin assembly or disassembly; nucleosome assembly; chromatin remodeling; transcription initiation, DNA-dependent; regulation of transcription from RNA polymerase II promoter; embryo development; nucleosome positioning; CenH3-containing nucleosome assembly at centromere; ATP-dependent chromatin remodeling; positive regulation of transcription, DNA-dependent | 4q31.1-q31.2 |
| SMARCAD1 | regulation of DNA recombination; nucleotide metabolic process; chromatin modification; positive regulation of transcription, DNA-dependent; protein homooligomerization | 4q22-q23 |
| SMARCAL1 | DNA duplex unwinding; chromatin modification; regulation of transcription from RNA polymerase II promoter; DNA metabolic process; ATP catabolic process | 2q35 |
| SMARCB1 | positive regulation of sequence-specific DNA binding transcription factor activity; blastocyst hatching; positive regulation of transcription from RNA polymerase II promoter; retroviral genome replication; interspecies interaction between organisms; positive regulation by host of viral transcription; cell differentiation; DNA integration; negative regulation of cell proliferation; nervous system development; cell cycle; regulation of transcription from RNA polymerase II promoter; chromatin remodeling; nucleosome disassembly | 22q11.23|22q11 |
| SMARCC1 | regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; organ morphogenesis; insulin receptor signaling pathway; nervous system development; chromatin remodeling; nucleosome disassembly | 3p21.31 |
| SMARCC2 | regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; nervous system development; nucleosome disassembly; chromatin remodeling | 12q13.2 |
| SMARCD1 | chromatin-mediated maintenance of transcription; nucleosome disassembly; chromatin remodeling; regulation of transcription from RNA polymerase II promoter; nervous system development | 12q13-q14 |
| SMARCD2 | nucleosome disassembly; chromatin remodeling; regulation of transcription from RNA polymerase II promoter | 17q23-q24 |
| SMARCD3 | regulation of transcription from RNA polymerase II promoter; positive regulation of neuroblast proliferation; heart morphogenesis; secondary heart field specification; cardiac right ventricle formation; neural retina development; nucleosome disassembly; chromatin remodeling; transcription, DNA-dependent; muscle cell differentiation; regulation of protein binding; cellular lipid metabolic process; small molecule metabolic process; positive regulation of transcription, DNA-dependent; nervous system development | 7q35-q36 |
| SMARCE1 | negative regulation of transcription, DNA-dependent; nervous system development; regulation of transcription from RNA polymerase II promoter; chromatin remodeling; nucleosome disassembly | 17q21.2 |
| SMARCE1P1 | - | 11q22.3 |
| SMARCE1P3 | - | 14q11.2 |
| SMARCE1P6 | - | 2p23.3 |
| SMC1A | mitotic sister chromatid segregation; cell cycle checkpoint; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; nuclear mRNA splicing, via spliceosome; DNA repair; DNA recombination; cell division; sister chromatid cohesion; mitotic spindle organization; signal transduction in response to DNA damage; negative regulation of DNA endoreduplication; chromosome condensation; gene expression; response to radiation; RNA splicing; meiosis; mitotic metaphase/anaphase transition; mitotic sister chromatid cohesion | Xp11.22-p11.21 |
| SMC1B | DNA recombination; DNA repair; chromosome condensation; meiosis; sister chromatid cohesion; cell cycle | 22q13.31 |
| SMC2 | DNA repair; DNA recombination; cell division; mitotic chromosome condensation; mitosis; sister chromatid cohesion; cell cycle | 9q31.1 |
| SMC3 | DNA repair; mitotic spindle organization; sister chromatid cohesion; cell division; negative regulation of DNA endoreduplication; signal transduction; meiosis; mitotic metaphase/anaphase transition; DNA mediated transformation; mitosis; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; regulation of DNA replication | 10q25 |
| SMC4 | mitotic sister chromatid segregation; DNA repair; DNA recombination; cell cycle; sister chromatid cohesion; mitotic chromosome condensation; cell division | 3q26.1 |
| SMC5 | telomere maintenance via recombination; double-strand break repair via homologous recombination; DNA repair; double-strand break repair via nonhomologous end joining; DNA recombination; positive regulation of maintenance of mitotic sister chromatid cohesion; cellular senescence; positive regulation of mitotic metaphase/anaphase transition | 9q21.12 |
| SMC5-AS1 | - | - |
| SMC6 | cellular senescence; DNA recombination; DNA repair; telomere maintenance via recombination | 2p24.2 |
| SMCHD1 | chromosome organization; inactivation of X chromosome by DNA methylation | 18p11.32 |
| SMCO2 | - | 12p11.23 |
| SMCO3 | - | 12p12.3 |
| SMCO4 | - | 11q21 |
| SMCR3 | - | - |
| SMCR5 | - | - |
| SMCR8 | - | 17p11.2 |
| SMDT1 | - | 22q13.2 |
| SMG1 | phosphatidylinositol phosphorylation; mRNA export from nucleus; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; DNA repair; response to stress; gene expression; RNA metabolic process; mRNA metabolic process; peptidyl-serine phosphorylation; protein autophosphorylation | 16p12.3 |
| SMG1P1 | - | 16p12.2 |
| SMG1P3 | - | 16p12.2 |
| SMG1P5 | - | 16p11.2 |
| SMG1P7 | - | 16q22.1 |
| SMG5 | mRNA export from nucleus; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; gene expression; RNA metabolic process; mRNA metabolic process; regulation of dephosphorylation | 1q21.2 |
| SMG6 | RNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; telomere maintenance; mRNA export from nucleus; gene expression; regulation of dephosphorylation; mRNA metabolic process | 17p13.3 |
| SMG7 | mRNA export from nucleus; RNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; gene expression; mRNA metabolic process; regulation of dephosphorylation | 1q25 |
| SMG7-AS1 | - | 1q25.3 |
| SMG8 | RNA metabolic process; regulation of protein kinase activity; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; gene expression | 17q22 |
| SMG9 | gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; mRNA metabolic process; RNA metabolic process | 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 | RNA splicing, via transesterification reactions; mRNA processing; induction of apoptosis; apoptotic process; RNA splicing | 10q23 |
| SMNP | - | 9p21.3 |
| SMO | positive regulation of protein import into nucleus; neuron fate commitment; developmental growth; embryonic digestive tract morphogenesis; embryonic neurocranium morphogenesis; cell development; positive regulation of transcription from RNA polymerase II promoter; embryonic viscerocranium morphogenesis; positive regulation of smoothened signaling pathway; negative regulation of DNA binding; negative regulation of apoptotic process; muscle cell fate commitment; odontogenesis of dentin-containing tooth; multicellular organism growth; protein localization to nucleus; osteoblast proliferation; neuron projection regeneration; otolith morphogenesis; positive regulation of branching involved in ureteric bud morphogenesis; mammary gland epithelial cell differentiation; epithelial-mesenchymal cell signaling; detection of cell density by contact stimulus involved in contact inhibition; ciliary receptor clustering involved in smoothened signaling pathway; somite development; cellular response to cholesterol; renal syste | 7q32.3 |
| SMOC1 | cell differentiation; multicellular organismal development; signal transduction; eye development; limb development; regulation of osteoblast differentiation | 14q24.2 |
| SMOC2 | signal transduction | 6q27 |
| SMOX | polyamine biosynthetic process; small molecule metabolic process; cellular nitrogen compound metabolic process; polyamine metabolic process; xenobiotic metabolic process; spermine catabolic process | 20p13 |
| SMPD1 | response to drug; termination of signal transduction; ceramide biosynthetic process; small molecule metabolic process; negative regulation of MAP kinase activity; positive regulation of apoptotic process; cell death; response to cocaine; positive regulation of protein dephosphorylation; nervous system development; sphingolipid metabolic process; sphingomyelin metabolic process; sphingomyelin catabolic process; glycosphingolipid metabolic process; signal transduction | 11p15.4-p15.1 |
| SMPD2 | induction of apoptosis by extracellular signals; sphingolipid metabolic process; sphingomyelin metabolic process; glycosphingolipid metabolic process; intracellular protein kinase cascade; response to mechanical stimulus; small molecule metabolic process; ceramide biosynthetic process; nerve growth factor receptor signaling pathway | 6q21 |
| SMPD3 | sphingomyelin catabolic process; peptide hormone secretion; sphingolipid metabolic process; multicellular organismal development; cell cycle; glycosphingolipid metabolic process; small molecule metabolic process | 16q22.1 |
| SMPD4 | small molecule metabolic process; ceramide biosynthetic process; cellular response to tumor necrosis factor; glycerophospholipid catabolic process; glycosphingolipid metabolic process; sphingolipid metabolic process; sphingomyelin catabolic process | 2q21.1 |
| SMPD4P1 | - | 22q11.21 |
| SMPD4P2 | - | 13q12.11 |
| SMPD5 | - | 8q24.3 |
| SMPDL3A | sphingomyelin catabolic process; metabolic process | 6q22.31 |
| SMPDL3B | metabolic process; sphingomyelin catabolic 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 | muscle organ development; smooth muscle contraction | 22q12.2 |
| SMTNL1 | positive regulation of vasoconstriction; negative regulation of vasodilation | 11q12.1 |
| SMTNL2 | - | 17p13.2 |
| SMU1 | - | 9p12 |
| SMUG1 | DNA repair; base-excision repair; base-excision repair, AP site formation; metabolic process; depyrimidination | 12q13.11-q13.3 |
| SMURF1 | protein polyubiquitination; positive regulation of protein ubiquitination; ubiquitin-dependent SMAD protein catabolic process; negative regulation of BMP signaling pathway; protein export from nucleus; ectoderm development; protein ubiquitination; cell differentiation; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; proteasomal ubiquitin-dependent protein catabolic process; receptor catabolic process; protein localization at cell surface; transforming growth factor beta receptor signaling pathway; protein modification process; negative regulation of ossification; negative regulation of transforming growth factor beta receptor signaling pathway; BMP signaling pathway | 7q22.1 |
| SMURF2 | ubiquitin-dependent protein catabolic process; regulation of transforming growth factor beta receptor signaling pathway; protein ubiquitination; transforming growth factor beta receptor signaling pathway; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein modification process; BMP signaling pathway; ubiquitin-dependent SMAD protein catabolic process; negative regulation of transcription, DNA-dependent | 17q22-q23 |
| SMYD1 | chromatin remodeling; heart development; negative regulation of transcription, DNA-dependent | 2p11.2 |
| SMYD2 | chromatin modification; histone H3-K36 methylation; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cell proliferation; peptidyl-lysine dimethylation; peptidyl-lysine monomethylation; regulation of DNA damage response, signal transduction by p53 class mediator | 1q32.3 |
| SMYD3 | histone lysine methylation; chromatin modification | 1q44 |
| SMYD4 | - | 17p13.3 |
| SMYD5 | - | 2p13.2 |
| SNAI1 | negative regulation of apoptotic process; osteoblast differentiation; negative regulation of DNA damage response, signal transduction by p53 class mediator; hair follicle morphogenesis; positive regulation of cell migration; 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; positive regulation of transcription, DNA-dependent; palate development; cartilage morphogenesis; trophoblast giant cell differentiation; negative regulation of cell differentiation involved in embryonic placenta development; left/right pattern formation; regulation of tight junction assembly; negative regulation of transcription from RNA polymerase II promoter | 20q13.2 |
| SNAI1P1 | - | 2q33-q37 |
| SNAI2 | white fat cell differentiation; negative regulation of apoptotic process; palate development; positive regulation of survival gene product expression; negative regulation of transcription from RNA polymerase II promoter; osteoblast differentiation; epithelial to mesenchymal transition; epithelial to mesenchymal transition involved in endocardial cushion formation; regulation of transcription, DNA-dependent; negative regulation of cell adhesion involved in substrate-bound cell migration; multicellular organismal development; regulation of osteoblast differentiation; positive regulation of fat cell differentiation; negative regulation of DNA damage response, signal transduction by p53 class mediator; pigmentation; regulation of tight junction assembly; desmosome disassembly; 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 differentiatio | 8q11 |
| SNAI3 | - | 16q24.3 |
| SNAI3-AS1 | - | 16q24.3 |
| SNAP23 | exocytosis; post-Golgi vesicle-mediated transport; vesicle targeting; cellular membrane organization; protein transport; cellular membrane fusion | 15q14 |
| SNAP23P | - | 20q13.13 |
| SNAP25 | growth hormone secretion; axonogenesis; endosome transport; synaptic vesicle docking involved in exocytosis; glutamate secretion; long-term memory; sleep; positive regulation of insulin secretion; small molecule metabolic process; positive regulation of hormone secretion; calcium ion-dependent exocytosis of neurotransmitter; regulation of insulin secretion; regulation of synapse assembly; neurotransmitter secretion; synaptic transmission; energy reserve metabolic process; neurotransmitter uptake | 20p12-p11.2 |
| SNAP25-AS1 | - | 20p12.2 |
| SNAP29 | protein transport; exocytosis; cellular membrane fusion; vesicle targeting | 22q11.21 |
| SNAP47 | - | 1q42.13 |
| SNAP91 | clathrin coat assembly | 6q14.2 |
| SNAPC1 | gene expression; regulation of transcription, DNA-dependent; transcription from RNA polymerase III promoter | 14q22 |
| SNAPC2 | gene expression; snRNA transcription; transcription from RNA polymerase III promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 19p13 |
| SNAPC3 | gene expression; snRNA transcription; transcription from RNA polymerase III promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 9p22.3 |
| SNAPC4 | gene expression; snRNA transcription from RNA polymerase II promoter; snRNA transcription from RNA polymerase III promoter; snRNA transcription; transcription from RNA polymerase III promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 9q34.3 |
| SNAPC5 | transcription from RNA polymerase III promoter; transcription initiation from RNA polymerase III promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; gene expression | 15q22.31 |
| SNAPIN | synaptic vesicle exocytosis; synaptic vesicle maturation; synaptic vesicle fusion to presynaptic membrane; terminal button organization; intracellular protein transport; neurotransmitter secretion; synaptic transmission | 1q21.3 |
| SNAR-C2 | - | 19q13.32 |
| SNCA | negative regulation of serotonin uptake; negative regulation of norepinephrine uptake; calcium ion homeostasis; oxidation-reduction process; regulation of excitatory postsynaptic membrane potential; long-term synaptic potentiation; positive regulation of inositol phosphate biosynthetic process; negative regulation of thrombin receptor signaling pathway; response to interleukin-1; cellular response to copper ion; cellular response to epinephrine stimulus; positive regulation of protein serine/threonine kinase activity; response to magnesium ion; cell death; negative regulation of transporter activity; protein destabilization; receptor internalization; negative regulation of microtubule polymerization; regulation of dopamine secretion; regulation of glutamate secretion; negative regulation of platelet-derived growth factor receptor signaling pathway; regulation of phospholipase activity; response to iron(II) ion; adult locomotory behavior; dopamine uptake; mitochondrial membrane organization; activation of cyst | 4q21 |
| SNCAIP | cell death; dopamine metabolic process; regulation of neurotransmitter secretion; regulation of inclusion body assembly | 5q23.2 |
| SNCB | negative regulation of neuron apoptosis; dopamine metabolic process | 5q35 |
| SNCG | regulation of dopamine secretion; adult locomotory behavior; regulation of neurotransmitter secretion | 10q23.2-q23.3 |
| SND1 | interspecies interaction between organisms; gene silencing by RNA; regulation of transcription, DNA-dependent | 7q31.3 |
| SND1-IT1 | - | 7q31 |
| SNED1 | cell-matrix adhesion | 2q37.3 |
| SNF8 | protein transport; cellular membrane organization; endosome 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; regulation of transcription, DNA-dependent; gene silencing by RNA | 1p34.3 |
| SNN | response to stress; response to abiotic stimulus | 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 | neurotransmitter secretion; synaptic vesicle docking involved in exocytosis | 20p13 |
| SNRK | protein phosphorylation; myeloid cell differentiation | 3p22.1 |
| SNRK-AS1 | - | - |
| SNRNP200 | cis assembly of pre-catalytic spliceosome; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression | 2q11.2 |
| SNRNP25 | mRNA processing; RNA splicing | 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 processing; gene expression; RNA splicing | 1p35.2 |
| SNRNP48 | RNA splicing; mRNA processing | 6p24.3 |
| SNRNP70 | regulation of RNA splicing; gene expression; RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome | 19q13.3 |
| SNRPA | gene expression; RNA splicing; nuclear mRNA splicing, via spliceosome | 19q13.1 |
| SNRPA1 | RNA splicing; gene expression; nuclear mRNA splicing, via spliceosome | 15q26.3 |
| SNRPB | nuclear mRNA splicing, via spliceosome; ncRNA metabolic process; RNA metabolic process; gene expression; RNA splicing; histone mRNA metabolic process; mRNA processing; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; spliceosomal snRNP assembly | 20p13 |
| SNRPB2 | nuclear mRNA splicing, via spliceosome; mRNA processing; RNA splicing; gene expression | 20p12.1 |
| SNRPBP1 | - | 7q21.11 |
| SNRPC | spliceosomal snRNP assembly; nuclear mRNA splicing, via spliceosome | 6p21.31 |
| SNRPD1 | nuclear mRNA splicing, via spliceosome; ncRNA metabolic process; RNA metabolic process; gene expression; RNA splicing; spliceosomal snRNP assembly; spliceosome assembly | 18q11.2 |
| SNRPD2 | spliceosome assembly; spliceosomal snRNP assembly; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; RNA metabolic process; ncRNA metabolic process | 19q13.2 |
| SNRPD3 | RNA splicing; histone mRNA metabolic process; mRNA processing; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; spliceosomal snRNP assembly; gene expression; RNA metabolic process; ncRNA metabolic process | 22q11.23 |
| SNRPE | histone mRNA metabolic process; ncRNA metabolic process; RNA metabolic process; gene expression; RNA splicing; mRNA processing; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; spliceosomal snRNP assembly; spliceosome assembly | 1q32 |
| SNRPEP4 | - | 19p13.3 |
| SNRPEP6 | - | - |
| SNRPEP7 | - | - |
| SNRPF | mRNA processing; ncRNA metabolic process; RNA metabolic process; gene expression; RNA splicing; histone mRNA metabolic process; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; spliceosomal snRNP assembly | 12q23.1 |
| SNRPFP1 | - | 20q13.13 |
| SNRPFP3 | - | - |
| SNRPG | transcription from RNA polymerase II promoter; ncRNA metabolic process; 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 | nuclear mRNA splicing, via spliceosome; ribosome biogenesis; gene expression; RNA splicing; single fertilization | 22q13 |
| SNUPN | RNA metabolic process; spliceosomal snRNP assembly; gene expression; ncRNA metabolic process; snRNA import into nucleus; transport; protein import into nucleus | 15q24.2 |
| SNURF | - | 15q12 |
| SNW1 | Notch signaling pathway; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; RNA splicing; positive regulation of neurogenesis; gene expression; retinoic acid receptor signaling pathway; nuclear mRNA splicing, via spliceosome; cellular response to retinoic acid; negative regulation of transcription, DNA-dependent | 14q24.3 |
| SNX1 | early endosome to Golgi transport; cell communication; endocytosis; intracellular protein transport | 15q22.31 |
| SNX10 | cell communication; endosome organization; protein transport | 7p15.2 |
| SNX11 | protein transport; cell communication | 17q21.32 |
| SNX12 | cell communication; protein transport | 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 | cell communication; termination of G-protein coupled receptor signaling pathway; protein transport | 6q14.3 |
| SNX15 | cell communication; intracellular protein transport | 11q12 |
| SNX16 | early endosome to late endosome transport; protein transport; endosome to lysosome transport; cell communication; protein targeting to lysosome | 8q21.13 |
| SNX17 | cholesterol catabolic process; signal transduction; receptor-mediated endocytosis; endosome transport; intracellular protein transport; regulation of endocytosis | 2p23-p22 |
| SNX18 | protein transport; positive regulation of GTPase activity; endocytosis; cell communication | 5q11.2 |
| SNX18P2 | - | 9q22.31 |
| SNX18P24 | - | - |
| SNX18P26 | - | - |
| SNX18P3 | - | - |
| SNX18P7 | - | - |
| SNX19 | cell communication; protein transport | 11q25 |
| SNX19P2 | - | 13q11 |
| SNX19P3 | - | 18p11.21 |
| SNX2 | cell communication; endocytosis; intracellular protein transport | 5q23 |
| SNX20 | protein transport; cell communication | 16q12.1 |
| SNX21 | cell communication; protein transport | 20q13.12 |
| SNX22 | protein transport; cell communication | 15q22.31 |
| SNX24 | cell communication; protein transport | 5q23.2 |
| SNX25 | termination of G-protein coupled receptor signaling pathway; protein transport; cell communication | 4q35.1 |
| SNX27 | protein transport; signal transduction | 1q21.3 |
| SNX29 | cell communication | 16p13.13-p13.12 |
| SNX29P1 | - | 16p12.2 |
| SNX29P2 | - | 16p11.2 |
| SNX2P2 | - | - |
| SNX3 | protein transport; cell communication; endocytosis | 6q21 |
| SNX30 | protein transport; cell communication | 9q32 |
| SNX31 | cell communication; protein transport | 8q22.3 |
| SNX32 | protein transport; cell communication | 11q13.1 |
| SNX33 | cell communication | 15q24.2 |
| SNX4 | cell communication; endocytosis; protein transport; endocytic recycling | 3q21.2 |
| SNX5 | protein transport; cell communication; pinocytosis | 20p11 |
| SNX5P1 | - | 4q21.1 |
| SNX6 | intracellular protein transport; negative regulation of transcription, DNA-dependent; cell communication; retrograde transport, endosome to Golgi; negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of epidermal growth factor-activated receptor activity | 14q13.1 |
| SNX6P1 | - | 19p12 |
| SNX7 | protein transport; cell communication | 1p21.3 |
| SNX9 | positive regulation of GTPase activity; lipid tube assembly; positive regulation of protein oligomerization; cell communication; receptor-mediated endocytosis; intracellular protein transport | 6q25.1-q26 |
| SOAT1 | positive regulation of amyloid precursor protein biosynthetic process; steroid metabolic process; cholesterol metabolic process; macrophage derived foam cell differentiation; cholesterol efflux; very-low-density lipoprotein particle assembly; cholesterol homeostasis; cholesterol esterification; cholesterol storage | 1q25 |
| SOAT2 | steroid metabolic process; cholesterol homeostasis; cholesterol esterification; very-low-density lipoprotein particle assembly; cholesterol efflux; intestinal cholesterol absorption; macrophage derived foam cell differentiation; cholesterol metabolic process | 12q13.13 |
| SOBP | inner ear morphogenesis; locomotory behavior; sensory perception of sound | 6q21 |
| SOCS1 | cytokine-mediated signaling pathway; negative regulation of JAK-STAT cascade; fat cell differentiation; regulation of protein phosphorylation; response to peptide hormone stimulus; negative regulation of catalytic activity; negative regulation of tyrosine phosphorylation of Stat3 protein; response to drug; JAK-STAT cascade; intracellular signal transduction; organ regeneration; response to estradiol stimulus; response to lipopolysaccharide; response to progesterone stimulus; response to cytokine stimulus; type I interferon-mediated signaling pathway; regulation of growth; interferon-gamma-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; JAK-STAT cascade involved in growth hormone signaling pathway; cellular response to amino acid stimulus; negative regulation of insulin receptor signaling pathway | 16p13.13 |
| SOCS2 | response to estradiol stimulus; regulation of cell growth; anti-apoptosis; JAK-STAT cascade; aging; regulation of signal transduction; negative regulation of signal transduction; cellular response to hormone stimulus; intracellular signal transduction; response to peptide hormone stimulus; regulation of JAK-STAT cascade; growth hormone receptor signaling pathway; JAK-STAT cascade involved in growth hormone signaling pathway | 12q |
| SOCS2-AS1 | - | 12q22 |
| SOCS2P1 | - | 20q11.21 |
| SOCS2P2 | - | 22q11.2 |
| SOCS3 | spongiotrophoblast differentiation; trophoblast giant cell differentiation; placenta blood vessel development; branching involved in embryonic placenta morphogenesis; regulation of type I interferon-mediated signaling pathway; response to organic cyclic compound; negative regulation of insulin receptor signaling pathway; positive regulation of cell differentiation; response to drug; regulation of growth; response to glucocorticoid stimulus; response to cytokine stimulus; response to insulin stimulus; response to progesterone stimulus; response to lipopolysaccharide; response to estradiol stimulus; response to food; organ regeneration; cytokine-mediated signaling pathway; response to gamma radiation; response to bacterium; response to heat; aging; JAK-STAT cascade; anti-apoptosis; regulation of protein phosphorylation; response to hypoxia; JAK-STAT cascade involved in growth hormone signaling pathway; interferon-gamma-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway; type I | 17q25.3 |
| SOCS4 | regulation of growth; intracellular signal transduction; negative regulation of signal transduction; negative regulation of epidermal growth factor-activated receptor activity | 14q22.1 |
| SOCS5 | negative regulation of epidermal growth factor-activated receptor activity; regulation of growth; negative regulation of T-helper 2 cell differentiation; cytokine-mediated signaling pathway; negative regulation of signal transduction; cell growth; intracellular signal transduction; positive regulation of T-helper 1 cell differentiation; epidermal growth factor receptor signaling pathway; positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 2p21 |
| SOCS5P2 | - | 9q34.3 |
| SOCS5P3 | - | 3p21.31 |
| SOCS5P4 | - | Xq13.1 |
| SOCS5P5 | - | 6q21 |
| SOCS6 | defense response; intracellular signal transduction; negative regulation of signal transduction; JAK-STAT cascade; regulation of growth | 18q22.2 |
| SOCS7 | fat cell differentiation; regulation of growth; intracellular signal transduction; protein ubiquitination; negative regulation of signal transduction; insulin receptor signaling pathway | 17q12 |
| SOD1 | response to drug; negative regulation of neuron apoptosis; response to hydrogen peroxide; superoxide anion generation; positive regulation of apoptotic process; positive regulation of catalytic activity; transmission of nerve impulse; regulation of multicellular organism growth; regulation of T cell differentiation in thymus; peripheral nervous system myelin maintenance; response to nutrient levels; platelet activation; removal of superoxide radicals; DNA fragmentation involved in apoptotic nuclear change; response to ethanol; negative regulation of cholesterol biosynthetic process; regulation of protein kinase activity; regulation of organ growth; response to copper ion; muscle cell homeostasis; thymus development; response to axon injury; hydrogen peroxide biosynthetic process; regulation of mitochondrial membrane potential; heart contraction; neurofilament cytoskeleton organization; relaxation of vascular smooth muscle; auditory receptor cell stereocilium organization; response to heat; glutathione metabol | 21q22.11 |
| SOD2 | regulation of blood pressure; locomotory behavior; aging; heart development; mitochondrion organization; anti-apoptosis; superoxide metabolic process; glutathione metabolic process; regulation of transcription from RNA polymerase II promoter; vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure; detection of oxygen; liver development; release of cytochrome c from mitochondria; response to hypoxia; age-dependent response to reactive oxygen species; response to superoxide; negative regulation of apoptotic process; hydrogen peroxide biosynthetic process; negative regulation of neuron apoptosis; positive regulation of nitric oxide biosynthetic process; negative regulation of fat cell differentiation; response to cadmium ion; negative regulation of fibroblast proliferation; neuron development; response to axon injury; erythrophore differentiation; post-embryonic development; regulation of catalytic activity; protein homotetramerization; response to electrical stimulus; regulatio | 6q25.3 |
| SOD3 | response to copper ion; removal of superoxide radicals; response to hypoxia | 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; regulation of transcription, DNA-dependent; multicellular organismal development; spermatogenesis; cell differentiation | 13q13.3 |
| SON | spindle pole body separation; microtubule cytoskeleton organization; cytokinesis; mRNA processing; anti-apoptosis; regulation of RNA splicing; regulation of cell cycle | 21q22.11 |
| SONP1 | - | 1q23.1 |
| SORBS1 | glucose transport; cellular response to insulin stimulus; stress fiber assembly; positive regulation of lipid biosynthetic process; transport; muscle contraction; positive regulation of glycogen biosynthetic process; positive regulation of glucose import; cell-matrix adhesion; insulin receptor signaling pathway; positive regulation of establishment of protein localization in plasma membrane; focal adhesion assembly | 10q23.33 |
| SORBS2 | - | 4q35.1 |
| SORBS3 | positive regulation of stress fiber assembly; negative regulation of transcription from RNA polymerase II promoter; positive regulation of cytoskeleton organization; muscle contraction; cell-substrate adhesion; positive regulation of MAPK cascade; cell adhesion | 8p21.3 |
| SORCS1 | neuropeptide signaling pathway | 10q23-q25 |
| SORCS2 | neuropeptide signaling pathway | 4p16.1 |
| SORCS3 | neuropeptide signaling pathway | 10q23-q25 |
| SORD | sorbitol catabolic process; L-xylitol metabolic process; L-xylitol catabolic process; fructose biosynthetic process; sperm motility; glucose metabolic process | 15q15.3 |
| SORL1 | transport; lipid transport; receptor-mediated endocytosis; steroid metabolic process; cholesterol metabolic process | 11q23.2-q24.2 |
| SORT1 | transport; Golgi to endosome transport; endocytosis; ossification; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; negative regulation of lipoprotein lipase activity; plasma membrane to endosome transport; nerve growth factor receptor signaling pathway; glucose import; negative regulation of apoptotic process; response to insulin stimulus; endosome transport via multivesicular body sorting pathway; cell differentiation; vesicle organization; myotube differentiation; regulation of gene expression; induction of apoptosis by extracellular signals; endosome to lysosome transport; multicellular organismal development | 1p13.3|1p21.3-p13.1 |
| SOS1 | signal transduction; apoptotic process; regulation of small GTPase mediated signal transduction; epidermal growth factor receptor signaling pathway; small GTPase mediated signal transduction; Ras protein signal transduction; axon guidance; blood coagulation; insulin receptor signaling pathway; fibroblast growth factor receptor signaling pathway; induction of apoptosis by extracellular signals; platelet activation; positive regulation of Rho GTPase activity; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; regulation of catalytic activity; leukocyte migration | 2p21 |
| SOS1-IT1 | - | 2p21 |
| SOS2 | regulation of small GTPase mediated signal transduction; apoptotic process; regulation of catalytic activity; 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 | 14q21 |
| SOST | positive regulation of transcription, DNA-dependent; negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification; negative regulation of BMP signaling pathway; negative regulation of protein complex assembly; cellular response to parathyroid hormone stimulus; negative regulation of ossification; response to mechanical stimulus; negative regulation of canonical Wnt receptor signaling pathway | 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 | regulation of transcription, DNA-dependent; chromatin organization | 13q34 |
| SOX10 | melanocyte differentiation; negative regulation of canonical Wnt receptor signaling pathway; stem cell differentiation; oligodendrocyte differentiation; developmental growth; digestive tract morphogenesis; enteric nervous system development; cell maturation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process; 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 | 22q13.1 |
| SOX11 | limb bud formation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of hormone secretion; sympathetic nervous system development; embryonic digestive tract morphogenesis; embryonic skeletal system morphogenesis; negative regulation of lymphocyte proliferation; positive regulation of neurogenesis; hard palate development; soft palate development; positive regulation of ossification; negative regulation of glial cell proliferation; ventricular septum morphogenesis; lung morphogenesis; 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; glial cell proliferation; positive regulation of gene expression; positive regulation of cell proliferation; nervous system development; multicellular organismal development; translation; noradrenergic neuron differenti | 2p25 |
| SOX12 | regulation of transcription from RNA polymerase II promoter; spinal cord development; cell fate commitment; positive regulation of transcription from RNA polymerase II promoter | 20p13 |
| SOX13 | regulation of transcription, DNA-dependent; anatomical structure morphogenesis | 1q32 |
| SOX14 | negative regulation of transcription from RNA polymerase II promoter; nervous system development; negative regulation of transcription, DNA-dependent | 3q22-q23 |
| SOX15 | 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; cell differentiation; skeletal muscle tissue regeneration; myoblast development; positive regulation of transcription from RNA polymerase II promoter; negative regulation of striated muscle tissue development | 17p12.3 |
| SOX17 | regulation of stem cell proliferation; negative regulation of canonical Wnt receptor signaling pathway; regulation of transcription, DNA-dependent; regulation of stem cell division; spermatogenesis; rostrocaudal neural tube patterning; renal system development; regulation of cardiac cell fate specification; negative regulation of Wnt receptor signaling pathway involved in heart development; outflow tract morphogenesis; embryonic heart tube morphogenesis; cardiogenic plate morphogenesis; heart looping; inner cell mass cellular morphogenesis; endoderm formation; vasculogenesis; angiogenesis; negative regulation of transcription from RNA polymerase II promoter; endodermal cell fate determination; positive regulation of cell differentiation; embryonic organ development; embryonic foregut morphogenesis; positive regulation of skeletal muscle tissue development; stem cell differentiation; stem cell fate specification; protein stabilization; endocardium formation; regulation of transcription from RNA polymerase II p | 8q11.23 |
| SOX18 | lymphangiogenesis; establishment of endothelial barrier; heart looping; outflow tract morphogenesis; vasculogenesis; endocardial cell differentiation; lymphatic endothelial cell differentiation; cell maturation; embryonic heart tube development; endocardium formation; stem cell fate specification; blood vessel endothelial cell migration; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; hair cycle process; in utero embryonic development; hair follicle development; angiogenesis; blood vessel development; vasculature development; regulation of stem cell proliferation | 20q13.33 |
| SOX2 | regulation of transcription, DNA-dependent; negative regulation of canonical Wnt receptor signaling pathway; response to growth factor stimulus; negative regulation of epithelial cell proliferation; inner ear development; positive regulation of transcription from RNA polymerase II promoter; 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; pituitary gland development; cell cycle arrest; chromatin organization; endodermal cell fate specification; eye development; osteoblast differentiation; multicellular organismal development; response to wounding; regulation of gene expression; glial cell fate commitment; forebrain development | 3q26.3-q27 |
| SOX2-OT | - | 3q26.33 |
| SOX21 | transcription from RNA polymerase II promoter; hair follicle development; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; hair cycle; skin development; stem cell differentiation; negative regulation of neuron differentiation | 13q31-q32 |
| SOX21-AS1 | - | 13q32.1 |
| SOX3 | hypothalamus development; pituitary gland development; forebrain development; negative regulation of neuron differentiation; face development; spermatid differentiation; Sertoli cell development; central nervous system development; negative regulation of transcription from RNA polymerase II promoter; organ morphogenesis; sex determination; sensory organ development; regulation of transcription, DNA-dependent; multicellular organismal development | Xq27.1 |
| SOX30 | transcription from RNA polymerase II promoter; spermatogenesis; response to corticosteroid stimulus; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 5q33 |
| SOX30P1 | - | 5q33.3 |
| SOX4 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; ascending aorta morphogenesis; glucose homeostasis; DNA damage response, detection of DNA damage; positive regulation of apoptotic process; negative regulation of apoptotic process; heart development; positive regulation of insulin secretion; regulation of transcription, DNA-dependent; noradrenergic neuron differentiation; somatic stem cell maintenance; positive regulation of cell proliferation; 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; negative regulation of cell proliferation; cardiac right ventricle morphogenesis; skeletal system development; neural tube formation; mitral valve morphogenesis; cardiac ventricle formation; pro-B cell differentiation; pos | 6p22.3 |
| SOX5 | cellular response to transforming growth factor beta stimulus; positive regulation of mesenchymal stem cell differentiation; positive regulation of cartilage development; regulation of transcription, DNA-dependent; positive regulation of chondrocyte differentiation; transcription from RNA polymerase II promoter | 12p12.1 |
| SOX5P | - | 8q21.2 |
| SOX6 | negative regulation of transcription from RNA polymerase II promoter; muscle organ development; post-embryonic development; cell morphogenesis; in utero embryonic development; regulation of transcription, DNA-dependent; gene silencing; oligodendrocyte cell fate specification; positive regulation of mesenchymal stem cell differentiation; cellular response to transforming growth factor beta stimulus; positive regulation of cartilage development; erythrocyte development; oligodendrocyte differentiation; muscle cell differentiation; cell fate commitment; positive regulation of transcription from RNA polymerase II promoter; cardiac cell differentiation; positive regulation of chondrocyte differentiation; hemopoiesis | 11p15.3 |
| SOX7 | regulation of canonical Wnt receptor signaling pathway; negative regulation of transcription, DNA-dependent; endoderm formation; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of cell proliferation | 8p22 |
| SOX8 | oligodendrocyte differentiation; signal transduction; enteric nervous system development; cell maturation; negative regulation of photoreceptor cell differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of kidney development; fat cell differentiation; peripheral nervous system development; male gonad development; regulation of hormone levels; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of myoblast differentiation; positive regulation of gliogenesis; positive regulation of osteoblast proliferation; retinal rod cell differentiation; retina development in camera-type eye; positive regulation of branching involved in ureteric bud morphogenesis; cell fate commitment; adipose tissue development; astrocyte fate commitment; morphogenesis of a branching epithelium; negative regulation of apoptotic process; spermatogenesis; osteoblast differentiation; renal vesicle induction; ureter mor | 16p13.3 |
| SOX9 | positive regulation of epithelial cell proliferation; astrocyte fate commitment; positive regulation of chondrocyte differentiation; Sertoli cell development; Sertoli cell differentiation; cartilage development; negative regulation of epithelial cell proliferation; positive regulation of transcription, DNA-dependent; oligodendrocyte differentiation; negative regulation of apoptotic process; negative regulation of photoreceptor cell differentiation; protein kinase B signaling cascade; regulation of cell differentiation; negative regulation of myoblast differentiation; positive regulation of protein catabolic process; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; extracellular matrix organization; negative regulation of chondrocyte differentiation; endocrine pancreas development; otic vesicle formation; notochord development; mammary gland development; positive regulation of epithelial cell differentiation; prostate gland development; | 17q23 |
| SP1 | regulation of transcription, DNA-dependent; ossification; trophectodermal cell differentiation; liver development; embryonic placenta development; megakaryocyte differentiation; lung development; enucleate erythrocyte differentiation; positive regulation by host of viral transcription; 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 sequence-specific DNA binding transcription factor activity; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; negative regulation of DNA binding; interspecies interaction between organisms; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; retinoic acid receptor signaling pathway; positive regulation of sequence-specific DNA binding transcription factor activity; negative regulation of cellular component movement; interferon-gamma-mediated signaling pathway; type I interferon-mediated signaling pathway; response to interferon-gamma; response to type I interferon; response to cytokine stimulus; negative regulation of viral transcription; response to retinoic acid; cytokine-mediated signaling pathway; negative regulation of transcription from RNA polymerase II promoter | 2q37.1 |
| SP110 | regulation of transcription, DNA-dependent; signal transduction; interspecies interaction between organisms | 2q37.1 |
| SP140L | - | 2q37.1 |
| SP2 | regulation of transcription from RNA polymerase II promoter; immune response | 17q21.32 |
| SP3 | regulation of transcription, DNA-dependent; lung development; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; enucleate erythrocyte differentiation; granulocyte differentiation; embryonic camera-type eye morphogenesis; embryonic skeletal system development; embryonic process involved in female pregnancy; definitive hemopoiesis; monocyte differentiation; megakaryocyte differentiation; T cell differentiation; ossification; natural killer cell differentiation; trophectodermal cell differentiation; liver development; embryonic placenta development; B cell differentiation | 2q31 |
| SP3P | - | 13q31.3 |
| SP4 | regulation of heart contraction; regulation of transcription from RNA polymerase II promoter | 7p15.3 |
| SP5 | regulation of transcription, DNA-dependent | 2q31.1 |
| SP6 | positive regulation of cell proliferation; regulation of transcription, DNA-dependent | 17q21.32 |
| SP8 | regulation of transcription, DNA-dependent; dorsal/ventral pattern formation; proximal/distal pattern formation; embryonic limb morphogenesis | 7p21.2 |
| SP9 | regulation of transcription, DNA-dependent; embryonic limb morphogenesis | 2q31.1 |
| SPA17 | signal transduction; spermatogenesis; single fertilization; binding of sperm to zona pellucida; ciliary or flagellar motility | 11q24.2 |
| SPA17P1 | - | 10q22.2 |
| SPACA1 | - | 6q15 |
| SPACA3 | cell wall macromolecule catabolic process; positive regulation of macrophage activation; response to virus; positive regulation of phagocytosis; peptidoglycan catabolic process; monocyte activation; defense response to Gram-positive bacterium | 17q11.2 |
| SPACA4 | cell adhesion | 19q13.33 |
| SPACA5 | - | Xp11.23 |
| SPACA6 | - | 19q13.41 |
| SPACA7 | - | 13q34 |
| SPAG1 | single fertilization | 8q22.2 |
| SPAG11A | - | 8p23.1 |
| SPAG16 | spermatogenesis; cilium assembly; cell projection organization | 2q34 |
| SPAG17 | - | 1p12 |
| SPAG4 | spermatogenesis | 20q11.21 |
| SPAG5 | mitotic sister chromatid segregation; mitotic anaphase; cell cycle; spindle organization; chromosome segregation; phosphatidylinositol-mediated signaling; regulation of attachment of spindle microtubules to kinetochore; cell division | 17q11.2 |
| SPAG5-AS1 | - | - |
| SPAG6 | cell projection organization; spermatid development | 10p12.2 |
| SPAG7 | - | 17p13.2 |
| SPAG8 | - | 9p13.3 |
| SPAG9 | striated muscle cell differentiation; positive regulation of muscle cell differentiation; muscle cell differentiation; positive regulation of MAPK cascade; negative regulation of protein homodimerization activity; protein homooligomerization; activation of JUN kinase activity; spermatogenesis; positive regulation of cell migration; retrograde transport, endosome to Golgi; positive regulation of neuron differentiation | 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 | response to calcium ion; cellular response to growth factor stimulus; response to cAMP; response to glucocorticoid stimulus; inner ear development; heart development; response to cadmium ion; response to ethanol; response to peptide hormone stimulus; regulation of cell proliferation; response to cytokine stimulus; response to L-ascorbic acid; response to lipopolysaccharide; lung development; platelet activation; response to lead ion; response to gravity; blood coagulation; signal transduction; platelet degranulation; ossification | 5q31.3-q32 |
| SPARCL1 | signal transduction | 4q22.1 |
| SPAST | cell cycle; microtubule bundle formation; ER to Golgi vesicle-mediated transport; cytokinesis, completion of separation; multicellular organismal development; nervous system development; cell differentiation; protein hexamerization; microtubule severing; protein homooligomerization; cell division; cell death | 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 | cell differentiation; spermatogenesis; multicellular organismal development | 3q26.31 |
| SPATA17 | - | 1q41 |
| SPATA18 | mitochondrial protein catabolic process; cellular response to stress; response to DNA damage stimulus; mitochondrion degradation by induced vacuole formation | 4q12 |
| SPATA19 | cell differentiation; spermatogenesis; multicellular organismal development | 11q25 |
| SPATA2 | multicellular organismal development; spermatogenesis; cell differentiation | 20q13.13 |
| SPATA20 | mannose metabolic process; multicellular organismal development; spermatogenesis; cell differentiation | 17q21.33 |
| SPATA20P1 | - | - |
| SPATA21 | - | 1p36.13 |
| SPATA22 | - | 17p13.3 |
| SPATA24 | multicellular organismal development; regulation of transcription, DNA-dependent; cell differentiation; spermatogenesis | 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 | spermatogenesis; apoptotic process | 4q34.2 |
| SPATA41 | - | 15q26.3 |
| SPATA5 | multicellular organismal development; cell differentiation; spermatogenesis | 4q28.1 |
| SPATA5L1 | - | 15q21.1 |
| SPATA6 | spermatogenesis; multicellular organismal development; cell differentiation | 1p33 |
| SPATA6L | - | 9p24.2 |
| SPATA7 | response to stimulus; spermatogenesis; visual perception | 14q31.3 |
| SPATA8 | - | 15q26.2 |
| SPATA9 | spermatogenesis; cell differentiation; multicellular organismal development | 5q15 |
| SPATC1 | - | 8q24.3 |
| SPATC1L | - | 21q22.3 |
| SPATS1 | - | 6p21.1 |
| SPATS2 | - | 12q13.12 |
| SPATS2L | - | 2q33.1 |
| SPC24 | M phase of mitotic cell cycle; mitotic cell cycle; cell division; mitotic prometaphase | 19p13.2 |
| SPC25 | mitotic spindle organization; M phase of mitotic cell cycle; cell division; chromosome segregation; mitotic prometaphase; mitotic cell cycle | 2q31.1 |
| SPCS1 | gene expression; SRP-dependent cotranslational protein targeting to membrane; proteolysis; translation; signal peptide processing; cellular protein metabolic process; energy reserve metabolic process; regulation of insulin secretion; small molecule metabolic process | 3p21.1 |
| SPCS2 | SRP-dependent cotranslational protein targeting to membrane; proteolysis; cellular protein metabolic process; signal peptide processing; translation; energy reserve metabolic process; small molecule metabolic process; regulation of insulin secretion; gene expression | 11q13.4 |
| SPCS2P1 | - | 15q15.2 |
| SPCS3 | energy reserve metabolic process; proteolysis; translation; SRP-dependent cotranslational protein targeting to membrane; signal peptide processing; small molecule metabolic process; gene expression; regulation of insulin secretion; cellular protein metabolic process | 4q34.2 |
| SPDEF | intestinal epithelial cell development; negative regulation of survival gene product expression; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cell fate commitment; positive regulation of cell fate commitment; positive regulation of transcription from RNA polymerase II promoter; positive regulation of apoptotic process; lung goblet cell differentiation; multicellular organismal development | 6p21.3 |
| SPDL1 | - | 5q35.1 |
| SPDYA | G1/S transition of mitotic cell cycle; positive regulation of cyclin-dependent protein kinase activity; positive regulation of cell proliferation; multicellular organismal development; cell cycle; response to DNA damage stimulus | 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 | muscle cell differentiation; negative regulation of cell proliferation; muscle organ development | 2q35 |
| SPEM1 | cell differentiation; multicellular organismal development; spermatogenesis | 17p13.1 |
| SPEN | positive regulation of neurogenesis; negative regulation of transcription from RNA polymerase II promoter; Notch signaling pathway; interspecies interaction between organisms; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 1p36 |
| SPERT | - | 13q14.13 |
| SPESP1 | multicellular organismal development | 15q23 |
| SPG11 | cell death | 15q14 |
| SPG20 | cell death | 13q13.3 |
| SPG20-AS1 | - | 13q13.3 |
| SPG21 | cell death; antigen receptor-mediated signaling pathway | 15q21-q22 |
| SPG7 | protein catabolic process; cell death; anterograde axon cargo transport; nervous system development; mitochondrion organization; proteolysis | 16q24.3 |
| SPHAR | DNA replication | 1q42.13 |
| SPHK1 | positive regulation of cell growth; positive regulation of smooth muscle contraction; positive regulation of cell migration; positive regulation of protein ubiquitination; intracellular signal transduction; positive regulation of NF-kappaB import into nucleus; negative regulation of apoptotic process; cellular protein metabolic process; small molecule metabolic process; anti-apoptosis; positive regulation of angiogenesis; positive regulation of fibroblast proliferation; sphingoid catabolic process; positive regulation of mitotic cell cycle; sphingolipid biosynthetic process; 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; sphingosine metabolic process; sphingolipid metabolic process; protein folding; 'de novo' posttranslational protein folding; positive regulation of NF-kappaB transcription factor activity | 17q25.2 |
| SPHK2 | sphingolipid metabolic process; blood vessel development; anti-apoptosis; sphinganine-1-phosphate biosynthetic process; cell proliferation; sphingosine metabolic process; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; sphingolipid biosynthetic process; small molecule metabolic process; brain development; positive regulation of cell proliferation | 19q13.2 |
| SPHKAP | - | 2q36 |
| SPI1 | negative regulation of transcription, DNA-dependent; negative regulation of gene expression, epigenetic; negative regulation of transcription from RNA polymerase II promoter; histone H3 acetylation; hypermethylation of CpG island; regulation of erythrocyte differentiation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of histone H4 acetylation | 11p11.2 |
| SPIB | regulation of transcription from RNA polymerase II promoter | 19q13.3-q13.4 |
| SPIC | - | 12q23.2 |
| SPICE1 | metaphase plate congression; regulation of centriole replication; cell division; spindle assembly involved in mitosis; cell cycle | 3q13.2 |
| SPIDR | - | 8q11.21 |
| SPIN1 | multicellular organismal development; cell cycle; gamete generation | 9q22.1 |
| SPIN2A | gamete generation; cell cycle | Xp11.1 |
| SPIN2B | gamete generation; cell cycle; apoptotic process | 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 | extracellular matrix organization; epithelial cell differentiation; hair cell differentiation; anagen; negative regulation of angiogenesis; regulation of T cell differentiation; epidermal cell differentiation; negative regulation of immune response | 5q32 |
| SPINK6 | - | 5q32 |
| SPINK9 | negative regulation of proteolysis | 5q32 |
| SPINT1 | placenta blood vessel development; branching involved in embryonic placenta morphogenesis; extracellular matrix organization; embryonic placenta 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; cell surface receptor signaling pathway; negative regulation of T cell proliferation; positive regulation of tumor necrosis factor biosynthetic process; defense response to bacterium; regulation of immune response; negative thymic T cell selection; regulation of defense response to virus; leukocyte migration; T cell costimulation; induction of apoptosis by extracellular signals; blood coagulation; negative regulation of cell adhesion; signal transduction; establishment or maintenance of cell polarity; response to protozoan; negative regulation of type IV hypersensitivity; chemotaxis; immune response; cellular defense response | 16p11.2 |
| SPNS1 | lipid transport; transmembrane transport | 16p11.2 |
| SPNS2 | transmembrane transport; lipid transport | 17p13.2 |
| SPNS3 | transmembrane transport; lipid transport | 17p13.2 |
| SPO11 | male meiosis I; spermatogenesis; spermatid development; female gamete generation; protein localization to chromosome; reciprocal meiotic recombination; meiosis; ovarian follicle development; zygotene; DNA metabolic process | 20q13.31 |
| SPOCD1 | transcription, DNA-dependent; negative regulation of phosphatase activity | 1p35.2 |
| SPOCK1 | neurogenesis; regulation of cell growth; neuron migration; cell adhesion; signal transduction; nervous system development; negative regulation of cell-substrate adhesion; negative regulation of endopeptidase activity; negative regulation of neuron projection development; central nervous system neuron differentiation | 5q31.2 |
| SPOCK2 | signal transduction; positive regulation of cell-substrate adhesion; regulation of cell differentiation; extracellular matrix organization; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; 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 | innate immune response; axon guidance; cell adhesion | 4p16.3 |
| SPOP | mRNA processing | 17q21.33 |
| SPOPL | - | 2q22.1 |
| SPP1 | positive regulation of cell-substrate adhesion; response to organic substance; biomineral tissue development; response to vitamin D; positive regulation of bone resorption; decidualization; response to steroid hormone stimulus; negative regulation of collateral sprouting of intact axon in response to injury; inflammatory response; osteoblast differentiation; ossification; embryo implantation; cell adhesion | 4q22.1 |
| SPPL2A | proteolysis | 15q21.2 |
| SPPL2B | proteolysis | 19p13.3 |
| SPPL3 | proteolysis | 12q24.31 |
| SPR | tetrahydrobiopterin biosynthetic process; nitric oxide biosynthetic process; small molecule metabolic process; nitric oxide metabolic process; regulation of nitric-oxide synthase activity; oxidation-reduction process | 2p14-p12 |
| SPRED1 | multicellular organismal development; regulation of signal transduction; negative regulation of phosphatase activity; inactivation of MAPK activity | 15q14 |
| SPRED2 | regulation of signal transduction; inactivation of MAPK activity; multicellular organismal development | 2p14 |
| SPRED3 | multicellular organismal development; regulation of signal transduction | 19q13 |
| SPRN | - | 10q26.3 |
| SPRNP1 | - | 10q26.3 |
| SPRR1A | epidermis development; peptide cross-linking; keratinocyte differentiation; keratinization | 1q21-q22 |
| SPRR1B | epidermis development; peptide cross-linking; keratinocyte differentiation; keratinization | 1q21-q22 |
| SPRR2B | keratinization; keratinocyte differentiation; epidermis development | 1q21-q22 |
| SPRR2D | epidermis development; keratinocyte differentiation; keratinization | 1q21-q22 |
| SPRR2F | epidermis development; keratinocyte differentiation; keratinization | 1q21-q22 |
| SPRR3 | epidermis development; peptide cross-linking; keratinocyte differentiation; keratinization; wound healing | 1q21-q22 |
| SPRTN | - | 1q42.12-q43 |
| SPRY1 | negative regulation of fibroblast growth factor receptor signaling pathway; multicellular organismal development; negative regulation of epidermal growth factor receptor signaling pathway; metanephros development; ureteric bud development; negative regulation of cell proliferation; regulation of signal transduction; negative regulation of Ras protein signal transduction; negative regulation of MAP kinase activity; negative regulation of nerve growth factor receptor signaling pathway; negative regulation of Ras GTPase activity; organ induction; epidermal growth factor receptor signaling pathway; negative regulation of ERK1 and ERK2 cascade | 4q28.1 |
| SPRY2 | epidermal growth factor receptor signaling pathway; multicellular organismal development; sensory perception of sound; negative regulation of apoptotic process; fibroblast growth factor receptor signaling pathway; positive regulation of protein serine/threonine kinase activity; positive regulation of ERK1 and ERK2 cascade; negative regulation of ERK1 and ERK2 cascade; lung growth; lung morphogenesis; positive regulation of protein kinase B signaling cascade; negative regulation of nerve growth factor receptor signaling pathway; branching morphogenesis of a tube; negative regulation of Ras protein signal transduction; cell fate commitment; negative regulation of MAP kinase activity; inner ear morphogenesis; negative regulation of epidermal growth factor receptor signaling pathway; negative regulation of Ras GTPase activity; negative regulation of cell proliferation; negative regulation of fibroblast growth factor receptor signaling pathway; regulation of signal transduction; positive regulation of gene express | 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 organization; porphyrin-containing compound biosynthetic process; axon guidance; regulation of cell shape; hemopoiesis; actin filament capping | 1q21 |
| SPTAN1 | apoptotic process; cellular component disassembly involved in apoptosis; axon guidance; actin filament capping | 9q34.11 |
| SPTB | axon guidance; actin filament capping | 14q23-q24.2 |
| SPTBN1 | axon guidance; actin filament capping; common-partner SMAD protein phosphorylation; SMAD protein import into nucleus | 2p21 |
| SPTBN2 | axon guidance; cell death; vesicle-mediated transport; actin filament capping | 11q13 |
| SPTBN4 | sensory perception of sound; vesicle-mediated transport; transmission of nerve impulse; fertilization; cytoskeletal anchoring at plasma membrane; actin filament capping; axon guidance; adult walking behavior; positive regulation of multicellular organism growth; adult behavior | 19q13.13 |
| SPTBN5 | axon guidance; actin cytoskeleton organization; actin filament capping | 15q21 |
| SPTLC1 | sphingomyelin biosynthetic process; biosynthetic process; sphingolipid metabolic process; sphingolipid biosynthetic process; small molecule metabolic process; sphinganine biosynthetic process; sphingosine biosynthetic process | 9q22.2 |
| SPTLC1P1 | - | - |
| SPTLC1P5 | - | - |
| SPTLC2 | small molecule metabolic process; sphingolipid biosynthetic process; biosynthetic process; sphingomyelin biosynthetic process; sphingolipid metabolic process; sphinganine biosynthetic process; sphingosine biosynthetic process | 14q24.3 |
| SPTLC3 | biosynthetic process; sphingolipid biosynthetic process; small molecule metabolic process; sphingoid 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 | sterol biosynthetic process; cholesterol biosynthetic process; cellular aromatic compound metabolic process; small molecule metabolic process; response to organic substance | 8q24.1 |
| SQRDL | sulfur amino acid catabolic process; cellular nitrogen compound metabolic process; sulfur amino acid metabolic process; small molecule metabolic process; sulfide oxidation, using sulfide:quinone oxidoreductase | 15q15 |
| SQSTM1 | regulation of I-kappaB kinase/NF-kappaB cascade; nerve growth factor receptor signaling pathway; ubiquitin-dependent protein catabolic process; autophagy; apoptotic process; response to stress; protein localization; induction of apoptosis by extracellular signals; regulation of Ras protein signal transduction; positive regulation of transcription from RNA polymerase II promoter; endosome transport; anti-apoptosis; macroautophagy; cell differentiation; intracellular signal transduction | 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 | leukocyte migration; uterus 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 apoptotic signaling pathway; negative regulation of intrinsic apoptotic signaling pathway; cell adhesion; cell cycle; oogenesis; protein phosphorylation; nerve growth factor receptor signaling pathway; signal transduction; signal complex assembly; epidermal growth factor receptor signaling pathway; intracellular protein kinase cascade; Ras protein signal transduction; axon guidance; blood coagulation; fibroblast growth factor receptor signaling pathway; cellular membrane organization; phosphorylation; peptidyl-tyrosine phosphorylation; platelet activation; forebrain development; T cell costimulation; regulation of intracellular estrogen receptor signaling pathway; positive regulation of integrin activation; regulation of vascular permeability; in | 20q12-q13 |
| SRCAP | histone acetylation; interspecies interaction between organisms; regulation of transcription from RNA polymerase II promoter; chromatin modification | 16p11.2 |
| SRCIN1 | regulation of dendritic spine morphogenesis; negative regulation of protein tyrosine kinase activity; positive regulation of protein tyrosine kinase activity; exocytosis; negative regulation of cell adhesion; regulation of cell migration; substrate adhesion-dependent cell spreading | 17q12 |
| SRD5A1 | cellular response to growth factor stimulus; response to drug; progesterone metabolic process; circadian sleep/wake cycle, REM sleep; small molecule metabolic process; bone development; response to growth hormone stimulus; response to fungicide; cellular response to cAMP; 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; urogenital system development; cellular response to estradiol stimulus; androgen biosynthetic process; liver development; cellular response to testosterone stimulus; cellular response to organic cyclic compound; spinal cord development; hippocampus development; thalamus development; hypothalamus development; pituitary gland development; cellular response to epinephrine stimulus; diterpenoid metabolic process; sex determination; sex differentiation; steroid metabolic process; male gonad development; cellular response t | 5p15 |
| SRD5A1P1 | - | Xq24-qter |
| SRD5A2 | androgen biosynthetic process; small molecule metabolic process; cell differentiation; male gonad development; androgen metabolic process; steroid metabolic process; sex differentiation; cell-cell signaling | 2p23 |
| SRD5A3 | small molecule metabolic process; androgen biosynthetic process; dolichol-linked oligosaccharide biosynthetic process; polyprenol catabolic process; steroid metabolic process; dolichol metabolic process | 4q12 |
| SREBF1 | regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; lipid metabolic process; steroid metabolic process; cholesterol metabolic process; cellular response to starvation; positive regulation of triglyceride biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; lipid biosynthetic process | 17p11.2 |
| SREBF2 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of cholesterol efflux; regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter; cellular response to laminar fluid shear stress; response to low-density lipoprotein particle stimulus; response to drug; positive regulation of transcription via sterol regulatory element binding; response to lipid; response to lead ion; response to hormone stimulus; cholesterol metabolic process; steroid metabolic process; aging; spermatogenesis; lipid metabolic process; positive regulation of cholesterol storage | 22q13 |
| SREK1 | mRNA processing; RNA splicing | 5q12.3 |
| SREK1IP1 | mRNA processing; RNA splicing | 5q12.3 |
| SRF | positive regulation of transcription initiation from RNA polymerase II promoter; long term synaptic depression; heart trabecula formation; cardiac vascular smooth muscle cell differentiation; eyelid development in camera-type eye; tight junction assembly; primitive streak formation; epithelial cell-cell adhesion; cellular senescence; regulation of cell adhesion; contractile actin filament bundle assembly; negative regulation of cell proliferation; associative learning; response to toxin; response to hormone stimulus; epithelial structure maintenance; positive regulation of transcription via serum response element binding; hippocampus development; tangential migration from the subventricular zone to the olfactory bulb; long-term memory; platelet activation; platelet formation; negative regulation of cell migration; neuron projection development; regulation of water loss via skin; response to cytokine stimulus; megakaryocyte development; angiogenesis involved in wound healing; heart development; gastrulation; m | 6p21.1 |
| SRFBP1 | regulation of transcription, DNA-dependent | 5q23.1 |
| SRGAP1 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; Rho protein signal transduction; axon guidance; cell migration | 12q14.2 |
| SRGAP2 | axon guidance; signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 1q32.1 |
| SRGAP2-AS1 | - | 1q32.1 |
| SRGAP2B | - | 1q21.1 |
| SRGAP2C | - | 1p11.2 |
| SRGAP3 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 3p25.3 |
| SRGAP3-AS1 | - | - |
| SRGAP3-AS3 | - | 3p25.3 |
| SRGAP3-AS4 | - | - |
| SRGN | maintenance of granzyme B location in T cell secretory granule; negative regulation of cytokine secretion; platelet degranulation; apoptotic process; blood coagulation; protein processing; platelet activation; negative regulation of bone mineralization; biomineral tissue development; mast cell secretory granule organization; T cell secretory granule organization; maintenance of protease location in mast cell secretory granule | 10q22.1 |
| SRI | regulation of action potential; transport; calcium ion transport; intracellular sequestering of iron ion; regulation of striated muscle contraction; signal transduction; regulation of heart contraction; muscle organ development; heart development | 7q21.1 |
| SRL | - | 16p13.3 |
| SRM | spermidine biosynthetic process; small molecule metabolic process; cellular nitrogen compound metabolic process; polyamine metabolic process | 1p36-p22 |
| SRMP1 | - | 20q13.13 |
| SRMP2 | - | 14q23.1 |
| SRMS | - | - |
| SRP14 | cotranslational protein targeting to membrane; negative regulation of translational elongation; protein targeting to ER; cellular protein metabolic process; response to drug; translation; gene expression; SRP-dependent cotranslational protein targeting to membrane | 15q22 |
| SRP14-AS1 | - | 15q15.1 |
| SRP14P1 | - | 12p13.31 |
| SRP19 | translation; cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; gene expression; cellular protein metabolic process; response to drug | 5q21-q22 |
| SRP54 | SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition; GTP catabolic process; translation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane, translocation; gene expression; response to drug; cellular protein metabolic process; protein targeting to ER | 14q13.2 |
| SRP68 | cellular protein metabolic process; response to drug; gene expression; SRP-dependent cotranslational protein targeting to membrane; translation | 17q25.1 |
| SRP68P2 | - | 17p11.1 |
| SRP68P3 | - | 17p11.1 |
| SRP72 | translation; SRP-dependent cotranslational protein targeting to membrane; gene expression; response to drug; cellular protein metabolic process | 4q11 |
| SRP72P1 | - | 18q21.1 |
| SRP72P2 | - | 6q25.3 |
| SRP9 | negative regulation of translational elongation; cellular protein metabolic process; gene expression; SRP-dependent cotranslational protein targeting to membrane; translation | 1q42.12 |
| SRPK1 | cell differentiation; sperm chromatin condensation; regulation of mRNA processing; regulation of nuclear mRNA splicing, via spliceosome; innate immune response; negative regulation of viral genome replication; positive regulation of viral genome replication; interspecies interaction between organisms; protein phosphorylation; chromosome segregation; intracellular protein kinase cascade; RNA splicing | 6p21.31 |
| SRPK2 | positive regulation of neuron apoptosis; RNA splicing; positive regulation of cell proliferation; intracellular protein kinase cascade; protein phosphorylation; positive regulation of gene expression; innate immune response; positive regulation of cell cycle; regulation of nuclear mRNA splicing, via spliceosome; negative regulation of viral genome replication; positive regulation of viral genome replication; mRNA processing; angiogenesis; spliceosome assembly; cell differentiation; nuclear speck organization | 7q22-q31.1 |
| SRPK3 | muscle tissue development; cell differentiation; skeletal muscle tissue development; protein phosphorylation; muscle organ development; multicellular organismal development | Xq28 |
| SRPRA | cotranslational protein targeting to membrane; gene expression; endoplasmic reticulum unfolded protein response; cellular protein metabolic process; activation of signaling protein activity involved in unfolded protein response; translation; intracellular protein transport; SRP-dependent cotranslational protein targeting to membrane; transport | 11q24.2 |
| SRPRB | translation; cellular protein metabolic process; endoplasmic reticulum unfolded protein response; gene expression; small GTPase mediated signal transduction; activation of signaling protein activity involved in unfolded protein response; SRP-dependent cotranslational protein targeting to membrane | 3q22.1 |
| SRPX | cell adhesion | Xp21.1 |
| SRPX2 | angiogenesis; regulation of phosphorylation; positive regulation of cell migration involved in sprouting angiogenesis; cell motility; cell-cell adhesion | Xq21.33-q23 |
| SRR | response to morphine; response to organic cyclic compound; serine family amino acid metabolic process; response to lipopolysaccharide; response to drug; pyruvate biosynthetic process; aging; D-serine biosynthetic process; L-serine metabolic process; D-serine metabolic process; protein homotetramerization; brain development | 17p13 |
| SRRD | rhythmic process | 22q12.1 |
| SRRM1 | transcription from RNA polymerase II promoter; gene expression; termination of RNA polymerase II transcription; mRNA export from nucleus; RNA splicing; mRNA 3'-end processing; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions | 1p36.11 |
| SRRM1P1 | - | 8q24.21 |
| SRRM1P3 | - | Xq26.3 |
| SRRM2 | nuclear mRNA splicing, via spliceosome; RNA splicing | 16p13.3 |
| SRRM2-AS1 | - | 16p13.3 |
| SRRM3 | - | 7q11.23 |
| SRRM4 | nervous system development; cell differentiation; mRNA processing; regulation of RNA splicing | 12q24.23 |
| SRRT | response to arsenic-containing substance; cell proliferation; gene silencing by RNA; primary miRNA processing | 7q21 |
| SRSF1 | nuclear mRNA 5'-splice site recognition; nuclear mRNA splicing, via spliceosome; in utero embryonic development; mRNA 3'-end processing; cardiac muscle contraction; mRNA splice site selection; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; mRNA processing; mRNA export from nucleus; RNA splicing; gene expression | 17q22 |
| SRSF10 | nuclear mRNA splicing, via spliceosome; assembly of spliceosomal tri-snRNP; RNA splicing, via transesterification reactions; regulation of transcription, DNA-dependent; mRNA splice site selection; mRNA export from nucleus; cytoplasmic transport; negative regulation of nuclear mRNA splicing, via spliceosome | 1p36.11 |
| SRSF10P1 | - | 18q21.2 |
| SRSF11 | mRNA 3'-end processing; 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 | 1p31 |
| SRSF12 | nuclear mRNA 5'-splice site recognition; RNA splicing; cytoplasmic transport; negative regulation of nuclear mRNA splicing, via spliceosome; mRNA processing; assembly of spliceosomal tri-snRNP; regulation of alternative nuclear mRNA splicing, via spliceosome | 6q15 |
| SRSF2 | 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 | 17q25.1 |
| SRSF3 | mRNA 3'-end processing; gene expression; RNA splicing; mRNA export from nucleus; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome | 6p21 |
| SRSF4 | mRNA export from nucleus; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions; termination of RNA polymerase II transcription; mRNA processing; RNA splicing; gene expression; mRNA 3'-end processing; negative regulation of nuclear mRNA splicing, via spliceosome | 1p35.3 |
| SRSF5 | termination of RNA polymerase II transcription; 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 splice site selection | 14q24 |
| SRSF6 | mRNA splice site selection; mRNA export from nucleus; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; negative regulation of nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; mRNA 3'-end processing | 20q12-q13.1 |
| SRSF7 | nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; negative regulation of nuclear mRNA splicing, via spliceosome; mRNA 3'-end processing; mRNA export from nucleus; RNA splicing; gene expression | 2p22.1 |
| SRSF8 | RNA splicing; mRNA processing | 11q22 |
| SRSF9 | mRNA 3'-end processing; nuclear mRNA splicing, via spliceosome; mRNA export from nucleus; RNA splicing; gene expression; negative regulation of nuclear mRNA splicing, via spliceosome; mRNA processing; mRNA splice site selection; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter | 12q24.31 |
| SRXN1 | response to oxidative stress | 20p13 |
| SRY | positive regulation of male gonad development; positive regulation of transcription, DNA-dependent; male sex determination; cell differentiation; sex differentiation | Yp11.3 |
| SS18 | response to drug; intracellular protein kinase cascade; regulation of transcription, DNA-dependent; cell morphogenesis; microtubule cytoskeleton organization; ephrin receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter | 18q11.2 |
| SS18L1 | chromatin modification; dendrite development; positive regulation of transcription, DNA-dependent | 20q13.3 |
| SS18L2 | - | 3p21 |
| SS18L2P1 | - | 10p11.21 |
| SSB | RNA processing; tRNA modification; histone mRNA metabolic process | 2q31.1 |
| SSBP1 | DNA replication; mitochondrion morphogenesis; positive regulation of helicase activity | 7q34 |
| SSBP2 | regulation of transcription, DNA-dependent | 5q14.1 |
| SSBP3 | protein complex assembly; positive regulation of anterior head development; 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 | 1p32.3 |
| SSBP4 | - | 19p13.1 |
| SSC4D | - | 7q11.23 |
| SSC5D | - | 19q13.42 |
| SSFA2 | - | 2q31.3 |
| SSH1 | cellular response to ATP; regulation of lamellipodium assembly; actin cytoskeleton organization; regulation of cellular protein metabolic process; regulation of actin polymerization or depolymerization; protein dephosphorylation; cell morphogenesis; regulation of axonogenesis | 12q24.11 |
| SSH2 | regulation of actin polymerization or depolymerization; protein dephosphorylation; regulation of axonogenesis; actin cytoskeleton organization; regulation of lamellipodium assembly | 17q11.2 |
| SSH3 | regulation of actin polymerization or depolymerization; protein dephosphorylation; regulation of lamellipodium assembly; regulation of axonogenesis | 11q13.2 |
| SSMEM1 | - | 7q32.2 |
| SSNA1 | mitotic cell cycle; G2/M transition of mitotic cell cycle | 9q34.3 |
| SSPN | cell adhesion; muscle contraction | 12p11.2 |
| SSPO | cell adhesion | 7q36.1 |
| SSR1 | SRP-dependent cotranslational protein targeting to membrane; translation; cotranslational protein targeting to membrane; 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 | translation; cellular protein metabolic process; gene expression; SRP-dependent cotranslational protein targeting to membrane; cotranslational protein targeting to membrane | 1q21-q23 |
| SSR3 | cellular protein metabolic process; gene expression; SRP-dependent cotranslational protein targeting to membrane; translation | 3q25.31 |
| SSR4 | SRP-dependent cotranslational protein targeting to membrane; translation; intracellular protein transport; gene expression; cellular protein metabolic process | Xq28 |
| SSR4P1 | - | 21q22.3 |
| SSRP1 | transcription elongation from RNA polymerase II promoter; positive regulation of viral transcription; viral reproduction; DNA replication; DNA repair; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; gene expression | 11q12 |
| SSSCA1 | cell cycle; cell division; mitosis | 11q13.1 |
| SSSCA1-AS1 | - | 11q13.1 |
| SSTR1 | digestion; cell surface receptor signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; glutamate receptor signaling pathway; neuropeptide signaling pathway; cell-cell signaling; response to nutrient; negative regulation of cell proliferation | 14q13 |
| SSTR2 | negative regulation of cell proliferation; cerebellum development; peristalsis; forebrain development; response to starvation; cellular response to glucocorticoid stimulus; cellular response to estradiol stimulus; response to nutrient; 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; digestion | 17q24 |
| SSTR3 | spermatogenesis; cellular response to estradiol stimulus; cellular response to glucocorticoid stimulus; response to starvation; forebrain development; cerebellum development; induction of apoptosis by hormones; negative regulation of cell proliferation; cell-cell signaling; G-protein signaling, coupled to cyclic nucleotide second messenger | 22q13.1 |
| SSTR5 | G-protein coupled receptor signaling pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; inhibition of adenylate cyclase activity by G-protein signaling pathway; negative regulation of cell proliferation; glucose homeostasis; regulation of insulin secretion; cellular response to glucocorticoid stimulus | 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 folding; protein homooligomerization; 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 | protein phosphorylation; protein modification process; cellular protein metabolic process; post-translational protein modification; O-glycan processing; protein glycosylation | 8q24.22 |
| ST3GAL2 | protein glycosylation; O-glycan processing; post-translational protein modification; cellular protein metabolic process; protein modification process; amino sugar metabolic process | 16q22.1 |
| ST3GAL3 | protein glycosylation; O-glycan processing; post-translational protein modification; cellular protein metabolic process | 1p34.1 |
| ST3GAL4 | protein glycosylation; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; O-glycan processing | 11q24.2 |
| ST3GAL4-AS1 | - | 11q24.2 |
| ST3GAL5 | glycosphingolipid biosynthetic process; protein glycosylation; carbohydrate metabolic process; ganglioside biosynthetic process | 2p11.2 |
| ST3GAL6 | cellular response to interleukin-6; oligosaccharide metabolic process; glycolipid metabolic process; protein glycosylation; protein modification process | 3q12.1 |
| ST3GAL6-AS1 | - | - |
| ST5 | positive regulation of ERK1 and ERK2 cascade | 11p15 |
| ST6GAL1 | protein modification process; humoral immune response; metabolic process; O-glycan processing; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process; protein glycosylation | 3q27-q28 |
| ST6GAL2 | oligosaccharide metabolic process; protein glycosylation; growth; multicellular organismal development | 2q11.2-q12.1 |
| ST6GAL2-IT1 | - | - |
| ST6GALNAC1 | protein glycosylation | 17q25.1 |
| ST6GALNAC2 | protein glycosylation; cellular protein metabolic process; O-glycan processing; post-translational protein modification | 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 | ganglioside biosynthetic process; protein glycosylation; glycosylceramide metabolic process; glycosphingolipid metabolic process; glycoprotein metabolic process; oligosaccharide biosynthetic 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 | protein glycosylation; sphingolipid metabolic process; lipid metabolic process; carbohydrate metabolic process; glycosphingolipid biosynthetic process; cellular response to heat; positive regulation of cell proliferation | 12p12.1-p11.2 |
| ST8SIA2 | post-translational protein modification; protein N-linked glycosylation via asparagine; cellular protein metabolic process; ganglioside biosynthetic process; carbohydrate metabolic process; protein modification process; protein glycosylation; N-glycan processing; nervous system development; axon guidance; oligosaccharide metabolic process | 15q26 |
| ST8SIA3 | post-translational protein modification; ganglioside biosynthetic process; protein glycosylation; N-glycan processing; glycosphingolipid biosynthetic process; glycoprotein metabolic process; cellular protein metabolic process; oligosaccharide metabolic process; protein N-linked glycosylation via asparagine | 18q21.31 |
| ST8SIA4 | axon guidance; oligosaccharide metabolic process; nervous system development; N-glycan processing; protein glycosylation; protein modification process; ganglioside biosynthetic process | 5q21 |
| ST8SIA5 | carbohydrate metabolic process; protein glycosylation; glycosphingolipid biosynthetic process; metabolic process | 18q21.1 |
| ST8SIA6 | oligosaccharide metabolic process; ganglioside biosynthetic process; protein O-linked glycosylation; glycoprotein metabolic process; glycolipid 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 | receptor-mediated endocytosis; defense response to bacterium; inflammatory response; cell adhesion; cell-cell signaling; negative regulation of angiogenesis | 3p21.1 |
| STAB2 | defense response to bacterium; cell adhesion; angiogenesis; endocytosis; receptor-mediated endocytosis | 12q23.3 |
| STAC | intracellular signal transduction; cellular response to heat; signal transduction | 3p22.3 |
| STAC2 | intracellular signal transduction | 17q12 |
| STAC3 | intracellular signal transduction | 12q13.3 |
| STAG1 | chromosome segregation; mitotic metaphase/anaphase transition; mitotic cell cycle; mitotic prometaphase; cell division; M phase of mitotic cell cycle | 3q22.3 |
| STAG2 | sister chromatid cohesion; cell division; M phase of mitotic cell cycle; negative regulation of DNA endoreduplication; mitotic prometaphase; mitotic cell cycle; meiosis; mitotic metaphase/anaphase transition | Xq25 |
| STAG3 | chromosome segregation; synaptonemal complex assembly; meiosis; cell cycle | 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; endosome transport; cellular membrane organization; epidermal growth factor receptor signaling pathway | 2q23.3 |
| STAMBP | proteolysis; anti-apoptosis; positive regulation of cell proliferation; JAK-STAT cascade | 2p13.1 |
| STAMBPL1 | proteolysis | 10q23.31 |
| STAP1 | signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; cellular membrane fusion; intracellular protein transport | 4q13.2 |
| STAP2 | - | 19p13.3 |
| STAR | steroid biosynthetic process; steroid metabolic process; C21-steroid hormone biosynthetic process; transport; lipid transport; regulation of steroid biosynthetic process; small molecule metabolic process; cellular lipid metabolic process; glucocorticoid 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 | cholesterol metabolic process; steroid metabolic process; lipid transport; mitochondrial transport; transport; steroid biosynthetic process; lipid metabolic process | 17q11-q12 |
| STARD3NL | - | 7p14-p13 |
| STARD4 | lipid transport; transport | 5q22.1 |
| STARD4-AS1 | - | 5q22.1 |
| STARD5 | steroid metabolic process; lipid transport; transport; C21-steroid hormone biosynthetic process; small molecule metabolic process | 15q26 |
| STARD6 | transport; lipid transport | 18q21.2 |
| STARD7 | - | 2q11.2 |
| STARD7-AS1 | - | 2q11.2 |
| STARD8 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | Xq13.1 |
| STARD9 | spindle assembly; microtubule-based movement; metabolic process | 15q15.2 |
| STARP1 | - | 13q21.32 |
| STAT1 | type I interferon-mediated signaling pathway; 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; positive regulation of transcription from RNA polymerase II promoter; negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; regulation of transcription from RNA polymerase II promoter; induction of apoptosis; regulation of type I interferon-mediated signaling pathway; JAK-STAT cascade involved in growth hormone signaling pathway; renal tubule development; negative regulation of metanephric nephron tubule epithelial cell differentiation; JAK-STAT cascade; blood circulation; metanephric mesenchymal cell differentiation; negative regulation of transcription from | 2q32.2 |
| STAT2 | response to virus; cytokine-mediated signaling pathway; interspecies interaction between organisms; type I interferon-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; JAK-STAT cascade; regulation of transcription from RNA polymerase II promoter | 12q13.3 |
| STAT3 | temperature homeostasis; response to estradiol stimulus; intracellular receptor mediated signaling pathway; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; eye photoreceptor cell differentiation; nervous system development; sexual reproduction; cytokine-mediated signaling pathway; response to organic cyclic compound; astrocyte differentiation; radial glial cell differentiation; growth hormone receptor signaling pathway; JAK-STAT cascade involved in growth hormone signaling pathway; interleukin-6-mediated signaling pathway; cell proliferation; eating behavior; nerve growth factor receptor signaling pathway; interspecies interaction between organisms; response to ethanol; positive regulation of Notch signaling pathway; signal transduction; acute-phase response; response to peptide hormone stimulus; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription | 17q21.31 |
| STAT4 | cytokine-mediated signaling pathway; cell proliferation; JAK-STAT cascade; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; protein phosphorylation | 2q32.2-q32.3 |
| STAT5A | peptidyl-tyrosine phosphorylation; regulation of epithelial cell differentiation; regulation of cell adhesion; lipid storage; positive regulation of B cell differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of mitotic cell cycle; taurine metabolic process; cytokine-mediated signaling pathway; regulation of steroid metabolic process; valine metabolic process; positive regulation of cell proliferation; lactation; female pregnancy; JAK-STAT cascade; fatty acid metabolic process; creatine metabolic process; positive regulation of inflammatory response; development of secondary male sexual characteristics; positive regulation of gamma-delta T cell differentiation; positive regulation of survival gene product expression; Peyer's patch development; negative regulation of apoptotic process; mammary gland epithelium development; epithelial cell differentiation involved in prostate gland development; prostate gland epithelium morphogenesis; positive regulation of | 17q11.2 |
| STAT5B | positive regulation of inflammatory response; response to interleukin-2; fatty acid metabolic process; acute-phase response; JAK-STAT cascade; sex differentiation; female pregnancy; lactation; regulation of steroid metabolic process; cytokine-mediated signaling pathway; taurine metabolic process; lipid storage; regulation of transcription from RNA polymerase II promoter; allantoin metabolic process; luteinization; response to hypoxia; liver development; citrate metabolic process; 2-oxoglutarate metabolic process; succinate metabolic process; oxaloacetate metabolic process; positive regulation of cellular component movement; isoleucine metabolic process; valine metabolic process; creatine metabolic process; response to interleukin-15; response to interleukin-4; negative regulation of apoptotic process; JAK-STAT cascade involved in growth hormone signaling pathway; positive regulation of B cell differentiation; regulation of multicellular organism growth; positive regulation of interleukin-2 biosynthetic proces | 17q11.2 |
| STAT6 | positive regulation of transcription from RNA polymerase II promoter; positive regulation of isotype switching to IgE isotypes; regulation of transcription from RNA polymerase II promoter; regulation of cell proliferation; response to cytokine stimulus; cytokine-mediated signaling pathway; signal transduction; 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 | cellular response to hypoxia; ossification; cellular calcium ion homeostasis; cell surface receptor signaling pathway; cell-cell signaling; embryo implantation; response to nutrient; response to organic cyclic compound; response to vitamin D; decidualization; cellular response to cAMP; cellular response to glucocorticoid stimulus | 8p21-p11.2 |
| STC2 | cell surface receptor signaling pathway; cell-cell signaling; embryo implantation; response to nutrient; response to vitamin D; response to peptide hormone stimulus; decidualization; cellular response to hypoxia | 5q35.1 |
| STEAP1 | transport; ion transport; electron transport chain; iron ion homeostasis | 7q21 |
| STEAP1B | - | 7p15.3 |
| STEAP2 | iron ion homeostasis; ion transport; Golgi to plasma membrane transport; endocytosis; response to hormone stimulus; electron transport chain; regulated secretory pathway | 7q21.13 |
| STEAP3 | cell cycle; apoptotic process; cellular iron ion homeostasis; ion transport; protein secretion; transferrin transport; transmembrane transport | 2q14.2 |
| STEAP3-AS1 | - | - |
| STEAP4 | ion transport; iron ion homeostasis; fat cell differentiation | 7q21.12 |
| STGC3 | - | 3p21 |
| STIL | neural tube development; forebrain development; embryonic axis specification; in utero embryonic development; neural tube closure; heart looping; smoothened signaling pathway; multicellular organismal development; determination of left/right symmetry; negative regulation of apoptotic process; multicellular organism growth; floor plate development; notochord development; cell proliferation | 1p32 |
| STIM1 | detection of calcium ion; cation transport; blood coagulation; activation of store-operated calcium channel activity; regulation of calcium ion transport | 11p15.5 |
| STIM2 | positive regulation of calcium ion transport; activation of store-operated calcium channel activity; negative regulation of calcium ion transport via store-operated calcium channel activity; ion transport; cellular calcium ion homeostasis | 4p15.2 |
| STIP1 | axon guidance; response to stress | 11q13 |
| STK10 | regulation of lymphocyte migration; protein autophosphorylation; lymphocyte aggregation; cell cycle; protein phosphorylation | 5q35.1 |
| STK11 | small molecule metabolic process; glucose homeostasis; anoikis; response to glucagon stimulus; regulation of fatty acid biosynthetic process; response to lipid; Golgi localization; positive regulation of gluconeogenesis; regulation of fatty acid oxidation; protein autophosphorylation; positive regulation of axonogenesis; tissue homeostasis; regulation of cell growth; negative regulation of cell growth; protein heterooligomerization; 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; positive regulation of protein phosphorylation; vasculature development; energy reserve metabolic process; protein phosphorylation; autophagy; response to DNA damage stimulus; cell cycle; positive regulation of transforming growth factor beta receptor signaling pathway; regulation of Wnt receptor signaling pathway; establ | 19p13.3 |
| STK11IP | protein localization | 2q35 |
| STK16 | positive regulation of transcription from RNA polymerase II promoter; protein autophosphorylation | 2q35 |
| STK17A | induction of apoptosis; regulation of reactive oxygen species metabolic process; positive regulation of apoptotic process; protein phosphorylation; intracellular protein kinase cascade | 7p13 |
| STK17B | protein phosphorylation; apoptotic process; induction of apoptosis; intracellular protein kinase cascade | 2q32.3 |
| STK19 | protein phosphorylation | 6p21.3 |
| STK24 | induction of apoptosis by oxidative stress; signal transduction; cellular component disassembly involved in apoptosis; negative regulation of cell migration; protein autophosphorylation; regulation of axon regeneration; protein phosphorylation; apoptotic process; induction of apoptosis | 13q31.2-q32.3 |
| STK24-AS1 | - | - |
| STK25 | Golgi localization; response to oxidative stress; protein phosphorylation; positive regulation of axonogenesis; signal transduction; establishment or maintenance of cell polarity | 2q37.3 |
| STK26 | - | Xq26.2 |
| STK3 | negative regulation of organ growth; positive regulation of JNK cascade; positive regulation of apoptotic process; hippo signaling cascade; negative regulation of cell proliferation; central nervous system development; intracellular protein kinase cascade; signal transduction; apoptotic process; protein phosphorylation; endocardium development; neural tube formation; negative regulation of canonical Wnt receptor signaling pathway; primitive hemopoiesis; cell differentiation involved in embryonic placenta development; positive regulation of protein serine/threonine kinase activity; positive regulation of protein kinase B signaling cascade | 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; cilium assembly; cell projection organization; protein phosphorylation; positive regulation of hh target transcription factor activity; post-embryonic development | 2q35 |
| STK38 | intracellular protein kinase cascade; protein phosphorylation; protein modification process; negative regulation of MAP kinase activity | 6p21 |
| STK38L | protein phosphorylation; regulation of cellular component organization; intracellular protein kinase cascade | 12p11.23 |
| STK39 | response to stress; protein phosphorylation; signal transduction by phosphorylation; positive regulation of potassium ion transport | 2q24.3 |
| STK4 | cell differentiation involved in embryonic placenta development; positive regulation of protein serine/threonine kinase activity; negative regulation of canonical Wnt receptor signaling pathway; induction of apoptosis; protein phosphorylation; endocardium development; neural tube formation; patterning of blood vessels; cell morphogenesis; 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; central nervous system development; intracellular protein kinase cascade; signal transduction | 20q11.2-q13.2 |
| STK4-AS1 | - | - |
| STK40 | - | 1p34.3 |
| STKLD1 | - | 9q34.2 |
| STMN1 | response to virus; cell differentiation; intracellular signal transduction; nervous system development; multicellular organismal development; signal transduction; mitotic spindle organization; microtubule depolymerization | 1p36.11 |
| STMN2 | positive regulation of neuron projection development; negative regulation of neuron projection development; positive regulation of microtubule depolymerization; negative regulation of microtubule depolymerization; negative regulation of microtubule polymerization; intracellular signal transduction; neuron differentiation | 8q21.13 |
| STMN3 | regulation of Rac GTPase activity; neuron projection development; regulation of cytoskeleton organization; cytoplasmic microtubule organization; intracellular signal transduction; nervous system development; negative regulation of Rac protein 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 | intracellular protein transport; transcription initiation from RNA polymerase II promoter; endocytosis | 2p16.3 |
| STON2 | intracellular protein transport; regulation of endocytosis | 14q31.1 |
| STOX1 | - | 10q22.1 |
| STOX2 | maternal placenta development; embryo development | 4q35.1 |
| STPG1 | - | 1p36.11 |
| STPG2 | - | 4q22.3-q23 |
| STRA13 | positive regulation of protein ubiquitination; replication fork processing; DNA repair; resolution of meiotic recombination intermediates | 17q25.3 |
| STRA6 | digestive tract morphogenesis; vocal learning; kidney development; blood vessel development; ear development; pulmonary valve morphogenesis; positive regulation of behavior; ventricular septum development; transport; heart development; female genitalia development; learning; adrenal gland development; lung alveolus development; feeding behavior; nose morphogenesis; lung development; cognition; eyelid development in camera-type eye; embryonic camera-type eye formation; uterus morphogenesis; diaphragm development; lung vasculature development; face morphogenesis; head morphogenesis; head development; neuromuscular process; artery morphogenesis; smooth muscle tissue development; developmental growth; embryonic digestive tract development; alveolar primary septum development; pulmonary artery morphogenesis; paramesonephric duct development | 15q24.1 |
| STRA8 | meiosis; regulation of organ growth; meiotic DNA double-strand break formation; meiotic cell cycle DNA replication checkpoint; oocyte development; meiotic chromosome condensation; DNA replication; fertilization; spermatogenesis; reciprocal meiotic recombination; synapsis; female meiosis sister chromatid cohesion; cellular response to retinoic acid; ovarian follicle development | 7q33 |
| STRADA | positive regulation of protein phosphorylation; cell cycle arrest; cell cycle; protein heterooligomerization; regulation of fatty acid oxidation; activation of protein kinase activity; insulin receptor signaling pathway; protein phosphorylation; protein export from nucleus | 17q23.3 |
| STRADB | regulation of fatty acid oxidation; cell morphogenesis; protein phosphorylation; protein export from nucleus; anti-apoptosis; cell cycle; cell cycle arrest; JNK cascade; insulin receptor signaling pathway; activation of protein kinase activity | 2q33.1 |
| STRADBP1 | - | 7q36.1 |
| STRAP | mRNA processing; RNA splicing; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transforming growth factor beta receptor signaling pathway | 12p12.3 |
| STRBP | spermatogenesis; cellular component movement; multicellular organismal development; mechanosensory behavior; spermatid development; cell differentiation | 9q33.3 |
| STRC | sensory perception of sound | 15q15.3 |
| STRIP1 | - | 1p13.3 |
| STRIP2 | - | 7q32.1 |
| STRN | dendrite development; locomotory behavior; tight junction assembly; Wnt receptor signaling pathway; negative regulation of cell proliferation | 2p22.2 |
| STRN3 | negative regulation of transcription, DNA-dependent; negative regulation of intracellular estrogen receptor signaling pathway; response to estradiol stimulus; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter | 14q13-q21 |
| STRN4 | - | 19q13.2 |
| STS | small molecule metabolic process; response to organic cyclic compound; response to pH; epidermis development; positive regulation of cell proliferation; learning or memory; female pregnancy; steroid catabolic process; glycosphingolipid metabolic process; sphingolipid metabolic process; response to peptide hormone stimulus; skin development; response to estrogen stimulus | Xp22.32 |
| STT3A | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; protein glycosylation | 11q23.3 |
| STT3B | protein N-linked glycosylation via asparagine; protein glycosylation | 3p23 |
| STUB1 | ubiquitin-dependent protein catabolic process; protein K63-linked ubiquitination; DNA repair; protein polyubiquitination; protein maturation; protein autoubiquitination; positive regulation of protein ubiquitination; misfolded or incompletely synthesized protein catabolic process; protein ubiquitination; proteasomal ubiquitin-dependent protein catabolic process; ubiquitin-dependent SMAD protein catabolic process; cellular response to misfolded protein; positive regulation of chaperone-mediated protein complex assembly; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; regulation of glucocorticoid metabolic process | 16p13.3 |
| STX10 | retrograde transport, endosome to Golgi; Golgi vesicle transport; intracellular protein transport | 19p13.2 |
| STX11 | cellular membrane fusion; intracellular protein transport; vesicle-mediated transport | 6q24.2 |
| STX12 | protein stabilization; intracellular protein transport; vesicle-mediated transport; cholesterol efflux | 1p35.3 |
| STX16 | intra-Golgi vesicle-mediated transport; intracellular protein transport; retrograde transport, endosome to Golgi; vesicle-mediated 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 | energy reserve metabolic process; glutamate secretion; intracellular protein transport; synaptic transmission; neurotransmitter secretion; response to gravity; synaptic vesicle docking involved in exocytosis; vesicle-mediated transport; calcium ion-dependent exocytosis; small molecule metabolic process; positive regulation of exocytosis; regulation of insulin secretion; positive regulation of neurotransmitter secretion | 7q11.23 |
| STX1B | neurotransmitter transport; transport; regulation of exocytosis; intracellular protein transport; synaptic transmission; vesicle-mediated transport | 16p11.2 |
| STX2 | cytokinetic cell separation; digestive tract morphogenesis; plasma membrane fusion; epithelial cell differentiation; microvillus assembly; vesicle-mediated transport; organ morphogenesis; ectoderm development; acrosome reaction; signal transduction; intracellular protein transport; cytokinesis | 12q24.33 |
| STX3 | cellular response to oxidative stress; neurotransmitter transport; neuron projection development; intracellular protein transport; exocytosis; cellular membrane fusion | 11q12.1 |
| STX4 | protein complex assembly; vesicle-mediated transport; synaptic vesicle docking involved in exocytosis; cellular membrane organization; blood coagulation; cellular membrane fusion; post-Golgi vesicle-mediated transport; intracellular protein transport; neurotransmitter transport; platelet activation | 16p11.2 |
| STX5 | vesicle fusion with Golgi apparatus; intracellular protein transport; ER to Golgi vesicle-mediated transport; vesicle targeting; retrograde transport, endosome to Golgi | 11q12.3 |
| STX6 | vesicle fusion; endosome organization; retrograde transport, endosome to Golgi; Golgi vesicle transport; intracellular protein transport | 1q25.3 |
| STX7 | endosome to lysosome transport; intracellular protein transport; post-Golgi vesicle-mediated transport; vesicle fusion | 6q23.1 |
| STX8 | transport | 17p12 |
| STXBP1 | vesicle-mediated transport; synaptic vesicle maturation; protein transport; glutamate secretion; regulation of synaptic vesicle priming; axon target recognition; neurotransmitter secretion; synaptic transmission; vesicle docking involved in exocytosis; energy reserve metabolic process; platelet degranulation; platelet aggregation; regulation of insulin secretion; small molecule metabolic process; negative regulation of synaptic transmission, GABAergic | 9q34.1 |
| STXBP2 | neutrophil degranulation; regulation of mast cell degranulation; protein transport; response to acidity; vesicle docking involved in exocytosis; leukocyte mediated cytotoxicity | 19p13.3-p13.2 |
| STXBP3 | vesicle docking involved in exocytosis; blood coagulation; protein transport; vesicle-mediated transport; platelet activation; neutrophil degranulation; negative regulation of calcium ion-dependent exocytosis; platelet aggregation | 1p13.3 |
| STXBP4 | protein targeting; insulin receptor signaling pathway; glucose transport | 17q22 |
| STXBP5 | protein transport; positive regulation of exocytosis | 6q24.3 |
| STXBP5-AS1 | - | 6q24.3 |
| STXBP5L | protein transport; exocytosis | 3q13.33 |
| STXBP6 | vesicle-mediated transport | 14q12 |
| STYK1 | - | 12p13.2 |
| STYX | spermatogenesis; protein dephosphorylation | - |
| STYXL1 | protein dephosphorylation; intracellular signal transduction | 7q11.23 |
| SUB1 | regulation of transcription from RNA polymerase II promoter | 5p13.3 |
| SUB1P2 | - | 14q24.3 |
| SUCLA2 | succinate metabolic process; succinyl-CoA metabolic process; tricarboxylic acid cycle; succinyl-CoA pathway; small molecule metabolic process | 13q12.2-q13.3 |
| SUCLG1 | small molecule metabolic process; tricarboxylic acid cycle; succinyl-CoA metabolic process; succinate metabolic process | 2p11.2 |
| SUCLG2 | tricarboxylic acid cycle; succinyl-CoA metabolic process; small molecule 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 | proteolysis; determination of left/right symmetry; spinal cord dorsal/ventral patterning; negative regulation of transcription factor import into nucleus; signal transduction; negative regulation of transcription from RNA polymerase II promoter; multicellular organismal development; skeletal system development; neural tube closure; heart looping; cytoplasmic sequestering of transcription factor; negative regulation of sequence-specific DNA binding transcription factor activity; regulation of transcription, DNA-dependent; skin development; negative regulation of smoothened signaling pathway; negative regulation of osteoblast differentiation | 10q24.32 |
| SUGCT | - | 7p14.1 |
| SUGP1 | gene expression; nuclear mRNA splicing, via spliceosome; RNA splicing | 19p13.11 |
| SUGP2 | RNA splicing; mRNA processing | 19p12 |
| SUGT1 | mitosis; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response | 13q14.3 |
| SUGT1P1 | - | 9p13.3 |
| SUGT1P2 | - | 3p22.3 |
| SUGT1P3 | - | 13q14.11 |
| SULF1 | innervation; positive regulation of Wnt receptor signaling pathway; negative regulation of prostatic bud formation; positive regulation vascular endothelial growth factor production; negative regulation of angiogenesis; bone development; vascular endothelial growth factor receptor signaling pathway; cartilage development; negative regulation of cell migration; heparan sulfate proteoglycan metabolic process; glomerular filtration; kidney development; embryonic skeletal system development; chondrocyte development; negative regulation of endothelial cell proliferation; regulation of fibroblast growth factor receptor signaling pathway; negative regulation of fibroblast growth factor receptor signaling pathway; glial cell-derived neurotrophic factor receptor signaling pathway; esophagus smooth muscle contraction; glomerular basement membrane development; positive regulation of BMP signaling pathway; apoptotic process | 8q13.1 |
| SULF2 | esophagus smooth muscle contraction; positive regulation of Wnt receptor signaling pathway; heparan sulfate proteoglycan metabolic process; chondrocyte development; glial cell-derived neurotrophic factor receptor signaling pathway; glomerular basement membrane development; positive regulation vascular endothelial growth factor production; negative regulation of fibroblast growth factor receptor signaling pathway; glomerular filtration; embryonic skeletal system development; kidney development; bone development; cartilage development; innervation | 20q12-q13.2 |
| SULT1A1 | catecholamine metabolic process; flavonoid metabolic process; amine metabolic process; small molecule metabolic process; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; sulfation; estrogen metabolic process; xenobiotic metabolic process | 16p12.1 |
| SULT1A2 | small molecule metabolic process; phenol-containing compound metabolic process; amine biosynthetic process; steroid metabolic process; xenobiotic metabolic process; catecholamine metabolic process; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; sulfation | 16p12.1 |
| SULT1A3 | - | 16p11.2 |
| SULT1A4 | xenobiotic metabolic process; catecholamine metabolic process; activation of signaling protein activity involved in unfolded protein response; steroid metabolic process; flavonoid metabolic process; sulfation; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; endoplasmic reticulum unfolded protein response; small molecule metabolic process | - |
| SULT1B1 | 3'-phosphoadenosine 5'-phosphosulfate metabolic process; small molecule metabolic process; thyroid hormone metabolic process; phenol-containing compound metabolic process; sulfation; flavonoid metabolic process; steroid metabolic process; xenobiotic metabolic process; cellular biogenic amine metabolic process | 4q13.3 |
| SULT1C2 | 3'-phosphoadenosine 5'-phosphosulfate metabolic process; xenobiotic metabolic process; amine metabolic process; small molecule metabolic process; sulfation | 2q12.3 |
| SULT1C3 | - | 2q12.3 |
| SULT1D1P | - | 4q13.3 |
| SULT1E1 | xenobiotic metabolic process; female pregnancy; steroid metabolic process; estrogen metabolic process; small molecule metabolic process; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; sulfation | 4q13.1 |
| SULT2A1 | sulfation; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; small molecule metabolic process; cellular lipid metabolic process; bile acid catabolic process; steroid metabolic process; digestion; xenobiotic metabolic process | 19q13.3 |
| SULT2B1 | sulfate assimilation; xenobiotic metabolic process; steroid metabolic process; small molecule metabolic process; 3'-phosphoadenosine 5'-phosphosulfate metabolic process | 19q13.3 |
| SULT4A1 | steroid metabolic process; small molecule metabolic process; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; xenobiotic metabolic process | 22q13.2 |
| SUMF1 | - | 3p26.1 |
| SUMF2 | - | 7q11.1 |
| SUMO1 | interferon-gamma-mediated signaling pathway; DNA repair; protein sumoylation; cytokine-mediated signaling pathway; positive regulation of protein complex assembly; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; regulation of protein localization; negative regulation of DNA binding; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of transcription, DNA-dependent; palate development; regulation of interferon-gamma-mediated signaling pathway | 2q33 |
| SUMO1P1 | - | 20q13.2 |
| SUMO2 | protein sumoylation; positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 17q25.1 |
| SUMO2P1 | - | 6p22.1 |
| SUMO2P3 | - | 7p11.2 |
| SUMO2P6 | - | 5q35.2 |
| SUMO2P7 | - | 17q21.33 |
| SUMO3 | protein sumoylation | 21q22.3 |
| SUMO4 | - | 6q25 |
| SUN1 | cytoskeletal anchoring at nuclear membrane; nuclear matrix anchoring at nuclear membrane | 7p22.3 |
| SUN2 | centrosome localization; cytoskeletal anchoring at nuclear membrane; nuclear matrix anchoring at nuclear membrane; nuclear migration along microfilament; positive regulation of cell migration; nuclear migration; mitotic spindle organization; nuclear envelope organization | 22q13.1 |
| SUN3 | - | 7p12.3 |
| SUN5 | spermatogenesis | 20q11.21 |
| SUOX | response to nutrient; sulfur amino acid catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process; sulfide oxidation, using sulfide:quinone oxidoreductase; sulfur amino acid metabolic process | 12q13.2 |
| SUPT16H | viral reproduction; positive regulation of transcription elongation, DNA-dependent; DNA repair; nucleosome disassembly; gene expression; regulation of transcription, DNA-dependent; DNA replication; transcription elongation from RNA polymerase II promoter; cellular process; transcription from RNA polymerase II promoter; positive regulation of viral transcription | 14q11.2 |
| SUPT20H | - | 13q13.3 |
| SUPT20HL1 | - | Xp22.11 |
| SUPT20HL2 | - | Xp22.11 |
| SUPT3H | transcription from RNA polymerase II promoter; histone H3 acetylation; histone deubiquitination; positive regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription initiation, DNA-dependent | 6p21.1-p21.3 |
| SUPT4H1 | positive regulation of transcription elongation, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; chromatin remodeling; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction; positive regulation of viral transcription; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription elongation, DNA-dependent | 17q21-q23 |
| SUPT5H | negative regulation of transcription from RNA polymerase II promoter; chromatin remodeling; transcription elongation, DNA-dependent; transcription elongation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; mRNA capping; cell cycle; response to organic substance; gene expression; viral reproduction; positive regulation of viral transcription; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription elongation, DNA-dependent; positive regulation of transcription elongation, DNA-dependent; positive regulation of transcription elongation from RNA polymerase II promoter; retroviral genome replication | 19q13 |
| SUPT6H | chromatin remodeling; nucleobase-containing compound metabolic process; regulation of transcription elongation, DNA-dependent; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 17q11.2 |
| SUPT7L | histone H3 acetylation; regulation of transcription, DNA-dependent; maintenance of protein location in nucleus | 2p23.3 |
| SUPV3L1 | positive regulation of cell growth; DNA duplex unwinding; mitochondrial RNA 3'-end processing; positive regulation of mitochondrial RNA catabolic process; mitochondrial mRNA catabolic process; DNA recombination; RNA catabolic process; anti-apoptosis; mitochondrial RNA surveillance; chromatin maintenance; mitochondrion morphogenesis; mitochondrial mRNA surveillance; mitochondrial ncRNA surveillance | 10q22.1 |
| SURF1 | aerobic respiration; respiratory chain complex IV assembly; proton transport; ion transmembrane transport; oxidation-reduction process | 9q34.2 |
| SURF2 | - | 9q34.2 |
| SURF4 | Golgi organization; positive regulation of organelle organization; protein exit from endoplasmic reticulum; early endosome to Golgi transport | 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 | cell cycle; chromatin silencing at rDNA; chromatin organization; regulation of transcription, DNA-dependent; histone H3-K9 methylation; interspecies interaction between organisms; histone lysine methylation; cell differentiation; peptidyl-lysine methylation; histone methylation; chromatin modification; rRNA processing | Xp11.23 |
| SUV39H2 | cell cycle; chromatin remodeling; chromatin assembly or disassembly; regulation of transcription, DNA-dependent; histone H3-K9 methylation; cell differentiation | 10p13 |
| SUZ12 | negative regulation of transcription from RNA polymerase II promoter; histone methylation; positive regulation of cell proliferation; histone ubiquitination; negative regulation of cell differentiation; chromatin modification; regulation of transcription, DNA-dependent | 17q11.2 |
| SUZ12P1 | - | 17q11.2 |
| SV2A | neurotransmitter transport; cellular calcium ion homeostasis | 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 | meiotic prophase I; cell cycle; meiosis; cell division | 10q26.3 |
| SYCE1L | meiosis | 16q23.1 |
| SYCE2 | cell cycle; cell division; meiotic prophase I; meiosis | 19p13.2 |
| SYCP1 | regulation of protein localization; spermatogenesis; reciprocal meiotic recombination; synaptonemal complex assembly; meiosis; cell cycle; cell division | 1p13-p12 |
| SYCP2 | cell cycle; synaptonemal complex assembly; cell division; meiotic prophase I; meiosis | 20q13.33 |
| SYCP2L | - | 6p24.2 |
| SYCP3 | cell division; spermatogenesis, exchange of chromosomal proteins; male meiosis I; meiosis; cell cycle | 12q |
| SYDE1 | signal transduction; small GTPase mediated signal transduction; activation of Rho GTPase activity; regulation of small GTPase mediated signal transduction | 19p13.12 |
| SYDE2 | small GTPase mediated signal transduction; signal transduction; activation of Rho GTPase activity; regulation of small GTPase mediated signal transduction | 1p22.3 |
| SYF2 | RNA splicing; nuclear mRNA splicing, via spliceosome | 1p36.11 |
| SYF2P1 | - | 14q12 |
| SYK | angiogenesis; regulation of platelet aggregation; regulation of arachidonic acid secretion; activation of JUN kinase activity; defense response to bacterium; intracellular signal transduction; positive regulation of cell adhesion mediated by integrin; regulation of superoxide anion generation; neutrophil chemotaxis; platelet activation; leukotriene biosynthetic process; regulation of platelet activation; organ morphogenesis; cell proliferation; blood coagulation; regulation of ERK1 and ERK2 cascade; integrin-mediated signaling pathway; enzyme linked receptor protein signaling pathway; leukocyte cell-cell adhesion; protein phosphorylation; serotonin secretion by platelet; leukocyte activation involved in immune response; neutrophil activation involved in immune response; macrophage activation involved in immune response; adaptive immune response; lymph vessel development; serotonin secretion; regulation of neutrophil degranulation; cellular response to molecule of fungal origin; B cell receptor signaling pathw | 9q22 |
| SYMPK | mRNA processing; cell adhesion | 19q13.3 |
| SYN1 | transport; neurotransmitter secretion; synaptic transmission | Xp11.23 |
| SYN2 | neurotransmitter secretion; synaptic transmission | 3p25 |
| SYN3 | neurotransmitter secretion | 22q12.3 |
| SYNC | intermediate filament-based process | 1p35.1 |
| SYNCRIP | interspecies interaction between organisms; nuclear mRNA splicing, via spliceosome; RNA splicing; RNA processing; CRD-mediated mRNA stabilization | 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 | nuclear matrix anchoring at nuclear membrane; cytoskeletal anchoring at nuclear membrane; nucleus organization; muscle cell differentiation; cell death; Golgi organization | 6q25 |
| SYNE2 | nuclear migration along microfilament; centrosome localization; nuclear migration; positive regulation of cell migration; cytoskeletal anchoring at nuclear membrane | 14q23.2 |
| SYNE3 | - | 14q32.13 |
| SYNE4 | - | 19q13.12 |
| SYNGAP1 | dendrite development; signal transduction; pattern specification process; visual learning; regulation of small GTPase mediated signal transduction; regulation of synapse structure and activity; negative regulation of axonogenesis; regulation of long-term neuronal synaptic plasticity; 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 | 6p21.3 |
| SYNGR1 | protein targeting; regulation of long-term neuronal synaptic plasticity; regulation of short-term neuronal synaptic plasticity | 22q13.1 |
| SYNGR2 | - | 17q25.3 |
| SYNGR2P1 | - | 15q13.2 |
| SYNGR3 | positive regulation of transporter activity | 16p13 |
| SYNGR4 | - | 19q13.3 |
| SYNJ1 | neurotransmitter transport; synaptic vesicle endocytosis; positive regulation of receptor-mediated endocytosis; phosphatidylinositol dephosphorylation; phosphatidylinositol phosphorylation; response to cytokine stimulus; phosphate-containing compound metabolic process; brain development; learning; positive regulation of gliogenesis; synaptic vesicle priming; synaptic vesicle uncoating; response to retinoic acid | 21q22.2 |
| SYNJ2 | intracellular distribution of mitochondria; brain development; phosphatidylinositol phosphorylation; inositol phosphate dephosphorylation; phosphatidylinositol dephosphorylation | 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; synaptic vesicle maturation; regulation of long-term neuronal synaptic plasticity; regulation of short-term neuronal synaptic plasticity; regulation of opioid receptor signaling pathway; synaptic vesicle membrane organization | 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 | glutamate secretion; synaptic vesicle exocytosis; regulation of exocytosis; regulation of calcium ion-dependent exocytosis; protein homooligomerization; synaptic transmission; detection of calcium ion; neurotransmitter secretion | 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 | neurotransmitter secretion; synaptic transmission | 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 calcium ion-dependent exocytosis; regulation of insulin secretion | 11q12-q13.1 |
| SYT8 | - | 11p15.5 |
| SYT9 | regulation of insulin secretion; regulation of calcium ion-dependent exocytosis | 11p15.4 |
| SYTL1 | intracellular protein transport; exocytosis; vesicle-mediated transport | 1p36.11 |
| SYTL2 | vesicle-mediated transport; negative regulation of phosphatase activity; intracellular protein transport; vesicle docking involved in exocytosis; exocytosis | 11q14 |
| SYTL3 | intracellular protein transport | 6q25.3 |
| SYTL4 | positive regulation of exocytosis; multivesicular body sorting pathway; positive regulation of protein secretion; intracellular protein transport; negative regulation of insulin secretion | Xq21.33 |
| SYTL5 | intracellular protein transport | Xp21.1 |
| SYVN1 | in utero embryonic development; endoplasmic reticulum unfolded protein response; response to stress; anti-apoptosis; ER-associated protein catabolic process; activation of signaling protein activity involved in unfolded protein response | 11q13 |
| SZRD1 | - | 1p36.13 |
| SZT2 | post-embryonic development; central nervous system development; pigmentation | 1p34.2 |
| T | cardiac muscle cell differentiation; tail morphogenesis; reproductive process; BMP signaling pathway; notochord development; positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation; primitive streak formation; SMAD protein signal transduction; canonical Wnt receptor signaling pathway; vasculogenesis; somitogenesis; neural plate morphogenesis; neural tube closure; heart morphogenesis; signal transduction involved in regulation of gene expression; regulation of transcription, DNA-dependent; signal transduction; multicellular organismal development; mesoderm development; positive regulation of cell proliferation; anterior/posterior axis specification, embryo | 6q27 |
| T1560 | - | 8q12.1 |
| TAAR6 | G-protein coupled receptor signaling pathway | 6q23.2 |
| TAB1 | TRIF-dependent toll-like receptor signaling pathway; activation of MAPKKK activity; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; stress-activated MAPK cascade; innate immune response; positive regulation of NF-kappaB transcription factor activity; toll-like receptor 3 signaling pathway; in utero embryonic development; activation of MAPK activity; heart morphogenesis; toll-like receptor 4 signaling pathway; Toll signaling pathway; JNK cascade; toll-like receptor 2 signaling pathway; I-kappaB kinase/NF-kappaB cascade; toll-like receptor 1 signaling pathway; transforming growth factor beta receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; lung development; MyD88-dependent toll-like receptor signaling pathway; nucleotide-binding oligomerization domain containing signaling pathway; toll-like receptor signaling pathway | 22q13.1 |
| TAB2 | innate immune response; activation of MAPK activity; toll-like receptor 4 signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; I-kappaB kinase/NF-kappaB cascade; positive regulation of NF-kappaB transcription factor activity; stress-activated MAPK cascade; toll-like receptor signaling pathway; nucleotide-binding oligomerization domain containing signaling pathway; toll-like receptor 2 signaling pathway; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor 3 signaling pathway; positive regulation of protein kinase activity; T cell receptor signaling pathway; Toll signaling pathway; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; toll-like receptor 1 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; heart development; JNK cascade | 6q25.1 |
| TAB3 | activation of MAPK activity; toll-like receptor 4 signaling pathway; MyD88-independent toll-like receptor signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; MyD88-dependent toll-like receptor signaling pathway; nucleotide-binding oligomerization domain containing signaling pathway; stress-activated MAPK cascade; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; I-kappaB kinase/NF-kappaB cascade; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; Toll signaling pathway; innate immune response; toll-like receptor 1 signaling pathway; JNK cascade | Xp21.2 |
| TAC1 | tachykinin receptor signaling pathway; neuropeptide signaling pathway; elevation of cytosolic calcium ion concentration; inflammatory response; positive regulation of epithelial cell migration; positive regulation of acute inflammatory response; negative regulation of heart rate; regulation of blood pressure; cell-cell signaling; synaptic transmission; insemination; long-term memory; sensory perception of pain; positive regulation of synaptic transmission, cholinergic; positive regulation of synaptic transmission, GABAergic; response to lipopolysaccharide; response to hormone stimulus; detection of abiotic stimulus; associative learning; positive regulation of renal sodium excretion; response to morphine; positive regulation of action potential; response to pain; positive regulation of lymphocyte proliferation; positive regulation of stress fiber assembly | 7q21-q22 |
| TAC3 | response to morphine; positive regulation of blood pressure; tachykinin receptor signaling pathway; neuropeptide signaling pathway; female pregnancy | 12q13-q21 |
| TACC1 | microtubule cytoskeleton organization; cell cycle; cell proliferation; cerebral cortex development; neurogenesis; cell division; regulation of microtubule-based process; interkinetic nuclear migration | 8p11.22 |
| TACC1P1 | - | 10p11.21 |
| TACC2 | interkinetic nuclear migration; astral microtubule organization; cell proliferation; microtubule cytoskeleton organization; regulation of microtubule-based process; neurogenesis; cerebral cortex development | 10q26 |
| TACC3 | neurogenesis; cell proliferation; regulation of microtubule-based process; cytoplasmic sequestering of transcription factor; regulation of cell cycle; response to stress; cerebral cortex development; hemopoiesis; astral microtubule organization; microtubule cytoskeleton organization; interkinetic nuclear migration | 4p16.3 |
| TACO1 | regulation of translation | 17q23.3 |
| TACR1 | positive regulation of synaptic transmission, cholinergic; response to ozone; positive regulation of synaptic transmission, GABAergic; response to nicotine; operant conditioning; positive regulation of renal sodium excretion; behavioral response to pain; sperm ejaculation; positive regulation of vasoconstriction; positive regulation of blood pressure; positive regulation of action potential; response to ethanol; response to morphine; eating behavior; sensory perception of pain; response to auditory stimulus; positive regulation of epithelial cell migration; behavior; response to hormone stimulus; detection of abiotic stimulus; response to heat; associative learning; mechanosensory behavior; long-term memory; aggressive behavior; acute inflammatory response; inflammatory response; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; elevation of cytosolic calcium ion concentration; tachykinin receptor signaling pathway; positive regulat | 2p12 |
| TACR2 | tachykinin receptor signaling pathway; excretion; muscle contraction | 10q22.1 |
| TACR3 | aging; tachykinin receptor signaling pathway; positive regulation of heart rate; response to estradiol stimulus; regulation of dopamine metabolic process; response to cocaine; hyperosmotic salinity response; response to morphine; positive regulation of blood pressure; regulation of feeding behavior; positive regulation of uterine smooth muscle contraction | 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 cell motility; negative regulation of ruffle assembly; negative regulation of substrate adhesion-dependent cell spreading; negative regulation of branching involved in ureteric bud morphogenesis | 1p32 |
| TADA1 | regulation of transcription, DNA-dependent; histone H3 acetylation | 1q24.1 |
| TADA2A | histone H3 acetylation; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 17q12-q21 |
| TADA2B | regulation of transcription, DNA-dependent | 4p16.1 |
| TADA3 | positive regulation of gene expression; regulation of transcription from RNA polymerase II promoter; histone H3 acetylation; intracellular estrogen receptor signaling pathway; positive regulation of transcription, DNA-dependent | 3p25.3 |
| TAF1 | transcription initiation, DNA-dependent; positive regulation of transcription initiation from RNA polymerase II promoter; RNA polymerase II transcriptional preinitiation complex assembly; protein autophosphorylation; 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; regulation of transcription, DNA-dependent; histone acetylation; 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; G1 phase of mitotic cell cycle; regulation of transcription involved in G2/M-phase of mitotic cell cycle; viral reproduction | Xq13.1 |
| TAF10 | transcription from RNA polymerase II promoter; protein homooligomerization; histone H3 acetylation; histone deubiquitination; viral reproduction; gene expression; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription initiation, DNA-dependent | 11p15.3 |
| TAF11 | 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; positive regulation by host of viral transcription | 6p21.31 |
| TAF12 | gene expression; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; transcription initiation, DNA-dependent; viral reproduction; histone H3 acetylation; positive regulation of sequence-specific DNA binding transcription factor activity | 1p35.3 |
| TAF13 | transcription from RNA polymerase II promoter; transcription initiation, DNA-dependent; regulation of transcription, DNA-dependent; 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 | transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent; transcription elongation from RNA polymerase I promoter; termination of RNA polymerase I transcription; transcription from RNA polymerase II promoter; gene expression | 1q42 |
| TAF1B | transcription from RNA polymerase I promoter; transcription, DNA-dependent; 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; gene expression | 2p25 |
| TAF1C | termination of RNA polymerase I transcription; regulation of transcription, DNA-dependent; transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription elongation from RNA polymerase I promoter; transcription from RNA polymerase II promoter; gene expression | 16q24 |
| TAF1D | regulation of transcription, DNA-dependent | 11q21 |
| TAF1L | male meiosis; cell cycle; histone acetylation; positive regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; transcription initiation, DNA-dependent | 9p21.1 |
| TAF2 | positive regulation of transcription from RNA polymerase II promoter; response to organic cyclic compound; transcription initiation from RNA polymerase II promoter; 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; maintenance of protein location in nucleus; negative regulation of sequence-specific DNA binding transcription factor activity | 10p15.1 |
| TAF4 | positive regulation of transcription, DNA-dependent; 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; ovarian follicle development; regulation of transcription from RNA polymerase II promoter; transcription initiation, DNA-dependent | 20q13.33 |
| TAF4B | regulation of transcription, DNA-dependent; transcription initiation, 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 | gene expression; viral reproduction; 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; chromatin modification; histone acetylation; interspecies interaction between organisms | 10q24-q25.2 |
| TAF5L | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; histone H3 acetylation | 1q42.13 |
| TAF6 | 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; regulation of sequence-specific DNA binding transcription factor activity; negative regulation of cell cycle; viral reproduction; gene expression; negative regulation of cell proliferation | 7q22.1 |
| TAF6L | regulation of transcription from RNA polymerase II promoter; transcription initiation, DNA-dependent; chromatin remodeling; regulation of sequence-specific DNA binding transcription factor activity; histone H3 acetylation | 11q12.3 |
| TAF7 | negative regulation of histone acetylation; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; intracellular estrogen receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; spermine transport; transcription initiation, DNA-dependent; transcription from RNA polymerase II promoter; negative regulation of protein kinase activity; transcription initiation from RNA polymerase II promoter | 5q31 |
| TAF7L | transcription initiation from RNA polymerase II promoter; multicellular organismal development; spermatogenesis; cell differentiation; regulation of transcription, DNA-dependent | Xq22.1 |
| TAF8 | positive regulation of transcription, DNA-dependent; maintenance of protein location in nucleus; regulation of fat cell differentiation; inner cell mass cell proliferation; multicellular organismal development; cell differentiation | 6p21.1 |
| TAF9 | response to interleukin-1; positive regulation of response to cytokine stimulus; 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; gene expression; 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 | 5q11.2-q13.1 |
| TAF9B | regulation of transcription, DNA-dependent; programmed cell death; negative regulation of apoptotic process; transcription initiation, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; positive regulation of cell growth; response to organic cyclic compound | Xq13.1-q21.1 |
| TAF9P2 | - | Yq11.221 |
| TAGAP | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated 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 | positive regulation of transcription, DNA-dependent; regulation of stem cell maintenance; regulation of mast cell differentiation; hemopoietic stem cell differentiation; hemangioblast cell differentiation; definitive hemopoiesis; angiogenesis; negative regulation of transcription from RNA polymerase II promoter; astrocyte fate commitment; positive regulation of cell division; positive regulation of transcription from RNA polymerase II promoter; positive regulation of mitotic cell cycle; locomotory behavior; positive regulation of chromatin assembly or disassembly; positive regulation of erythrocyte differentiation; regulation of myeloid cell differentiation; cell fate commitment; erythrocyte maturation; regulation of cell proliferation; megakaryocyte development; embryonic hemopoiesis; positive regulation of protein complex assembly; basophil differentiation; multicellular organismal development; spinal cord association neuron differentiation; hemopoiesis; neuron differentiation; erythrocyte differentiation; | 1p32 |
| TAL2 | behavior; multicellular organism growth; midbrain development; thalamus development; post-embryonic development; regulation of transcription, DNA-dependent | 9q32 |
| TALDO1 | pentose-phosphate shunt; energy reserve metabolic process; pentose-phosphate shunt, non-oxidative branch; fructose 6-phosphate metabolic process; glyceraldehyde-3-phosphate metabolic process; small molecule metabolic process; xylulose biosynthetic process; carbohydrate 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 | innate immune response; I-kappaB kinase/NF-kappaB cascade; signal transduction | 2q24-q31 |
| TAOK1 | response to DNA damage stimulus; protein phosphorylation; DNA repair; positive regulation of JNK cascade; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; positive regulation of stress-activated MAPK cascade; apoptotic process; regulation of cytoskeleton organization; spindle checkpoint; G2/M transition DNA damage checkpoint | 17q11.2 |
| TAOK2 | response to stress; stress-activated MAPK cascade; protein targeting to membrane; regulation of cell growth; apoptotic process; activation of MAPKK activity; focal adhesion assembly; positive regulation of JNK cascade; positive regulation of stress-activated MAPK cascade; response to DNA damage stimulus; G2/M transition DNA damage checkpoint; regulation of cell shape; cell migration; actin cytoskeleton organization | 16p11.2 |
| TAOK3 | G2/M transition DNA damage checkpoint; protein autophosphorylation; MAPK cascade; positive regulation of JNK cascade; negative regulation of JNK cascade; positive regulation of stress-activated MAPK cascade; DNA repair; protein phosphorylation; response to DNA damage stimulus | 12q |
| TAP1 | interspecies interaction between organisms; transmembrane transport; cytosol to ER transport; antigen processing and presentation of exogenous peptide antigen via MHC class I; protection from natural killer cell mediated cytotoxicity; antigen processing and presentation of endogenous peptide antigen via MHC class I; intracellular transport of viral proteins in host cell; peptide transport; protein transport; defense response; 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; positive regulation of T cell mediated cytotoxicity | 6p21.3 |
| TAP2 | antigen processing and presentation of endogenous peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; interspecies interaction between organisms; antigen processing and presentation of exogenous peptide antigen via MHC class I; intracellular transport of viral proteins in host cell; peptide transport; protein transport; positive regulation of antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent; antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent; antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent; cytosol to ER transport; peptide antigen transport; transmembrane transport; antigen processing and presentation of peptide antigen via MHC class I; positive regulation of T cell mediated cytotoxicity | 6p21.3 |
| TAPBP | 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-dependent; protein complex assembly; retrograde vesicle-mediated transport, Golgi to ER; antigen processing and presentation of endogenous peptide antigen via MHC class I; antigen processing and presentation of exogenous 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 | post-embryonic development; embryonic skeletal system development; in utero embryonic development | 4p15.32 |
| TAPT1-AS1 | - | 4p15.32 |
| TARBP1 | regulation of transcription from RNA polymerase II promoter; RNA processing | 1q42.3 |
| TARBP2 | negative regulation of protein kinase activity; targeting of mRNA for destruction involved in RNA interference; regulation of translation; production of siRNA involved in RNA interference; gene silencing by RNA; pre-miRNA processing; miRNA loading onto RISC involved in gene silencing by miRNA; negative regulation of defense response to virus by host; regulation of viral transcription; positive regulation of viral genome replication; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter | 12q12-q13 |
| TARBP2P | - | 8q22.3 |
| TARDBP | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; RNA splicing; cell death; mRNA processing; 3'-UTR-mediated mRNA stabilization; negative regulation by host of viral transcription | 1p36.22 |
| TARDBPP2 | - | 13q21.2 |
| TARP | - | 7p15-p14 |
| TARS | translation; tRNA aminoacylation for protein translation; threonyl-tRNA aminoacylation; gene expression | 5p13.2 |
| TARS2 | mitochondrial threonyl-tRNA aminoacylation; gene expression; tRNA aminoacylation for protein translation; threonyl-tRNA aminoacylation | 1q21.3 |
| TARSL2 | threonyl-tRNA aminoacylation | 15q26.3 |
| TAS1R1 | response to stimulus; sensory perception of umami taste; detection of chemical stimulus involved in sensory perception of taste | 1p36.23 |
| TAS1R2 | G-protein coupled receptor signaling pathway; detection of chemical stimulus involved in sensory perception of sweet taste; response to stimulus; sensory perception of sweet taste | 1p36.13 |
| TAS1R3 | detection of chemical stimulus involved in sensory perception of sweet taste; G-protein coupled receptor signaling pathway; response to stimulus; sensory perception of umami taste; sensory perception of sweet taste | 1p36.33 |
| TAS2R1 | G-protein coupled receptor signaling pathway; response to stimulus; chemosensory behavior; detection of chemical stimulus involved in sensory perception of taste | 5p15 |
| TAS2R10 | response to stimulus; detection of chemical stimulus involved in sensory perception of taste | 12p13 |
| TAS2R13 | response to stimulus; detection of chemical stimulus involved in sensory perception of taste | 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 | response to stimulus; sensory perception of taste; 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 | sensory perception of taste; response to stimulus | 12p13.2 |
| TAS2R3 | sensory perception of taste; response to stimulus; signal transduction; detection of chemical stimulus involved in sensory perception of taste | 7q31.3-q32 |
| TAS2R30 | response to stimulus; sensory perception of taste | 12p13.2 |
| TAS2R31 | response to stimulus; sensory perception of taste | 12p13.2 |
| TAS2R4 | sensory perception of taste; detection of chemical stimulus involved in sensory perception of taste; signal transduction; response to stimulus | 7q31.3-q32 |
| TAS2R43 | response to stimulus; sensory perception of taste; G-protein coupled receptor signaling pathway; detection of chemical stimulus involved in sensory perception of bitter taste | 12p13.2 |
| TAS2R46 | sensory perception of taste; response to stimulus | 12p13.2 |
| TAS2R5 | sensory perception of taste; response to stimulus; chemosensory behavior; signal transduction; detection of chemical stimulus involved in sensory perception of taste | 7q31.3-q32 |
| TAS2R60 | sensory perception of bitter taste; G-protein coupled receptor signaling pathway; response to stimulus | 7q35 |
| TAS2R62P | - | 7q35 |
| TAS2R63P | - | 12p13.2 |
| TAS2R8 | response to stimulus; detection of chemical stimulus involved in sensory perception of taste | 12p13 |
| TAS2R9 | detection of chemical stimulus involved in sensory perception of taste; response to stimulus | 12p13 |
| TASP1 | positive regulation of transcription, DNA-dependent; asparagine catabolic process via L-aspartate; protein maturation; proteolysis | 20p12.1 |
| TAT | cellular nitrogen compound metabolic process; small molecule metabolic process; response to glucocorticoid stimulus; response to mercury ion; 2-oxoglutarate metabolic process; glutamate metabolic process; L-phenylalanine catabolic process; tyrosine catabolic process; response to oxidative stress; biosynthetic process; response to organic cyclic compound | 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 | apoptotic process; innate immune response; anti-apoptosis; negative regulation of NF-kappaB transcription factor activity; negative regulation of type I interferon production | 7p15 |
| TAX1BP3 | negative regulation of cell proliferation; Rho protein signal transduction; negative regulation of protein localization at cell surface; activation of Cdc42 GTPase activity; negative regulation of Wnt receptor signaling pathway | 17p13 |
| TAZ | mitochondrial respiratory chain complex I assembly; muscle contraction; heart development; skeletal muscle tissue development; metabolic process; hemopoiesis; cardiolipin biosynthetic process; cristae formation; mitochondrial ATP synthesis coupled electron transport; cardiac muscle tissue development; cardiac muscle contraction | 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 | positive regulation of Rab GTPase activity; 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 | tubulin complex assembly; protein folding; 'de novo' posttranslational protein folding; cellular protein metabolic process; post-chaperonin tubulin folding pathway | 5q14.1 |
| TBCAP1 | - | Xp21 |
| TBCAP3 | - | 4q23 |
| TBCB | 'de novo' posttranslational protein folding; multicellular organismal development; nervous system development; cell differentiation; cellular protein metabolic process | 19q13.11-q13.12 |
| TBCC | protein folding; 'de novo' posttranslational protein folding; cellular protein metabolic process; post-chaperonin tubulin folding pathway; GTP catabolic process | 6p21.1 |
| TBCCD1 | maintenance of Golgi location; maintenance of centrosome location; regulation of cell migration; regulation of cell shape; cell morphogenesis | 3q27.3 |
| TBCD | positive regulation of GTPase activity; cellular protein metabolic process; 'de novo' posttranslational protein folding; tight junction assembly; adherens junction assembly; negative regulation of microtubule polymerization; negative regulation of cell-substrate adhesion; post-chaperonin tubulin folding pathway; protein folding | 17q25.3 |
| TBCE | protein folding; microtubule cytoskeleton organization; 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 | negative regulation of gene expression; positive regulation of interferon-alpha production; negative regulation of type I interferon production; TRIF-dependent toll-like receptor signaling pathway; positive regulation of interferon-beta production; response to virus; Toll signaling pathway; type I interferon production; I-kappaB kinase/NF-kappaB cascade; activation of innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; toll-like receptor 4 signaling pathway; defense response to Gram-positive bacterium; MyD88-independent toll-like receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; protein phosphorylation; inflammatory response; innate immune response; interspecies interaction between organisms; toll-like receptor 3 signaling pathway; positive regulation of interferon-beta biosynthetic process | 12q14.1 |
| TBKBP1 | innate immune response | 17q21.32 |
| TBL1X | positive regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; proteolysis; sensory perception of sound; proteasomal ubiquitin-dependent protein catabolic process; cellular lipid metabolic process; canonical Wnt receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; small molecule metabolic process | Xp22.3 |
| TBL1XR1 | cellular lipid metabolic process; canonical Wnt receptor signaling pathway; chromatin modification; positive regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; small molecule metabolic process; proteasomal ubiquitin-dependent protein catabolic process; positive regulation of transcription from RNA polymerase II promoter | 3q26.32 |
| TBL1XR1-AS1 | - | - |
| TBL1Y | proteasomal ubiquitin-dependent protein catabolic process; positive regulation of transcription from RNA polymerase II promoter; response to estrogen stimulus; negative regulation of transcription, DNA-dependent; fat cell differentiation | Yp11.2 |
| TBL1YP1 | - | Yq11.223 |
| TBL2 | - | 7q11.23 |
| TBL3 | rRNA processing; G-protein signaling, coupled to cGMP nucleotide second messenger | 16p13.3 |
| TBP | gene expression; interspecies interaction between organisms; viral reproduction; cell death; spermatogenesis; transcription from RNA polymerase III promoter; transcription elongation from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 6q27 |
| TBPL1 | transcription initiation from RNA polymerase II promoter; regulation of transcription, DNA-dependent; dTTP biosynthetic process; spermatogenesis; transcription from RNA polymerase II promoter; acrosome assembly; spermatid nucleus differentiation | 6q22.1-q22.3 |
| TBPL2 | negative regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase II promoter; multicellular organismal development | 14q22.3 |
| TBR1 | axon guidance; hindbrain development; brain development; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 2q24 |
| TBRG1 | nucleolus to nucleoplasm transport; protein stabilization; negative regulation of cell proliferation; cell cycle arrest; cell cycle; DNA replication | 11q24.2 |
| TBRG4 | G1 phase of mitotic cell cycle; cell cycle arrest; positive regulation of cell proliferation; cellular respiration | 7p13 |
| TBX1 | cell fate specification; blood vessel development; angiogenesis; cell proliferation; embryonic cranial skeleton morphogenesis; cellular response to fibroblast growth factor stimulus; negative regulation of cell differentiation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; retinoic acid receptor signaling pathway; blood vessel morphogenesis; thymus development; muscle organ morphogenesis; tongue morphogenesis; embryonic viscerocranium morphogenesis; semicircular canal morphogenesis; muscle organ development; heart development; mesoderm development; artery morphogenesis; positive regulation of epithelial cell proliferation; positive regulation of protein phosphorylation; positive regulation of MAPK cascade; muscle cell fate commitment; odontogenesis of dentin-containing tooth; middle ear morphogenesis; outer ear morphogenesis; inner ear morphogenesis; ear morphogenesis; aorta morphogenesis; social behavior; thyroid gland development; | 22q11.21 |
| TBX10 | anatomical structure morphogenesis; regulation of transcription from RNA polymerase II promoter | 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 | regulation of cell proliferation; regulation of transcription from RNA polymerase II promoter; anatomical structure morphogenesis; pituitary gland development; cell fate commitment; positive regulation of transcription from RNA polymerase II promoter | 1q24.2 |
| TBX2 | developmental growth involved in morphogenesis; negative regulation of transcription from RNA polymerase II promoter; heart morphogenesis; multicellular organismal development; mammary placode formation; muscle cell fate determination; cell aging; positive regulation of cell proliferation; negative regulation of transcription, DNA-dependent; cardiac muscle tissue development; palate development | 17q23.2 |
| TBX20 | patterning of blood vessels; negative regulation of transcription from RNA polymerase II promoter; endoderm formation; neuron migration; muscle contraction; positive regulation of transcription from RNA polymerase II promoter; negative regulation of SMAD protein complex assembly; visceral motor neuron differentiation; dorsal/ventral pattern formation; cell proliferation; blood circulation; embryonic heart tube development; cardiac septum development; endocardial cushion formation; cardiac right ventricle morphogenesis; cardiac chamber formation; foramen ovale closure; negative regulation of transcription, DNA-dependent; pulmonary valve formation; lateral mesoderm formation; aortic valve morphogenesis; tricuspid valve development; cardiac muscle tissue morphogenesis; atrial septum morphogenesis; pulmonary vein morphogenesis; outflow tract septum morphogenesis; heart looping | 7p14.3 |
| TBX21 | positive regulation of transcription, DNA-dependent; multicellular organismal development; lymphocyte migration; regulation of immune response; positive regulation of isotype switching to IgG isotypes; response to virus; regulation of transcription, DNA-dependent | 17q21.32 |
| TBX22 | negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; multicellular organismal development; regulation of transcription, DNA-dependent | Xq21.1 |
| TBX3 | in utero embryonic development; female genitalia development; negative regulation of epithelial cell differentiation; male genitalia development; limbic system development; stem cell maintenance; specification of organ position; organ morphogenesis; anterior/posterior axis specification, embryo; positive regulation of cell proliferation; cell aging; multicellular organismal development; anti-apoptosis; regulation of transcription from RNA polymerase II promoter; atrioventricular bundle cell differentiation; outflow tract morphogenesis; heart looping; follicle-stimulating hormone secretion; cardiac muscle cell fate commitment; positive regulation of stem cell proliferation; sinoatrial node cell development; mammary placode formation; branching involved in mammary gland duct morphogenesis; ventricular septum morphogenesis; palate development; mesoderm morphogenesis; mammary gland development; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regul | 12q24.1 |
| TBX4 | skeletal system morphogenesis; limb morphogenesis; angiogenesis; morphogenesis of an epithelium; regulation of transcription, DNA-dependent; multicellular organismal development; embryonic limb morphogenesis; lung development | 17q21-q22 |
| TBX5 | forelimb morphogenesis; embryonic arm morphogenesis; negative regulation of cell migration; embryonic limb morphogenesis; lung development; negative regulation of epithelial to mesenchymal transition; negative regulation of cell proliferation; heart development; pattern specification process; cell-cell signaling; induction of apoptosis; atrial septum development; ventricular septum development; ventricular cardiac muscle tissue development; cardiac left ventricle formation; endocardial cushion development; atrioventricular valve morphogenesis; bundle of His development; morphogenesis of an epithelium; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cardioblast differentiation; cardiac muscle cell differentiation; pericardium development; negative regulation of cardiac muscle cell proliferation; positive regulation of cardiac muscle cell proliferation; cell migration involved in coronary vasculogenesis | 12q24.1 |
| TBX5-AS1 | - | 12q24.21 |
| TBX6 | cell fate specification; signal transduction involved in regulation of gene expression; anatomical structure morphogenesis; mesoderm development; multicellular organismal development; mesoderm formation | 16p11.2 |
| TBXA2R | G-protein coupled receptor signaling pathway; blood coagulation; platelet activation | 19p13.3 |
| TBXAS1 | small molecule metabolic process; xenobiotic metabolic process; prostanoid metabolic process; fatty acid biosynthetic process; prostaglandin biosynthetic process; icosanoid metabolic process | 7q34-q35 |
| TC2N | - | 14q32.12 |
| TCAF1 | - | 7q35 |
| TCAF2 | - | 7q35 |
| TCAIM | - | 3p21.31 |
| TCAM1P | - | 17q23.3 |
| TCAP | sarcomere organization; somitogenesis; skeletal muscle contraction; protein complex assembly; response to stress; adult heart development; muscle filament sliding; skeletal muscle thin filament assembly; skeletal muscle myosin thick filament assembly; otic vesicle formation; cardiac muscle fiber development; sarcomerogenesis; detection of mechanical stimulus; cardiac myofibril assembly; cardiac muscle tissue morphogenesis; cardiac muscle contraction | 17q12 |
| TCEA1 | transcription-coupled nucleotide-excision repair; nucleotide-excision repair; gene expression; transcription elongation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; DNA repair; viral reproduction; erythrocyte differentiation; positive regulation of viral transcription; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription elongation, DNA-dependent | 8q11.2 |
| TCEA1P1 | - | 9q22.33 |
| TCEA1P2 | - | 3p22 |
| TCEA1P4 | - | 9p21.1 |
| TCEA2 | regulation of transcription from RNA polymerase II promoter; regulation of transcription elongation, DNA-dependent; transcription, DNA-dependent; transcription elongation, DNA-dependent | 20q13.33 |
| TCEA3 | regulation of transcription from RNA polymerase II promoter; regulation of transcription elongation, DNA-dependent | 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 elongation, DNA-dependent; regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent | Xp22.2 |
| TCEANC2 | transcription, DNA-dependent | 1p32.3 |
| TCEB1 | viral reproduction; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; interspecies interaction between organisms; ubiquitin-dependent protein catabolic process; positive regulation of viral transcription; gene expression | 8q21.11 |
| TCEB1P2 | - | 15q15.1 |
| TCEB1P21 | - | - |
| TCEB1P3 | - | 10p14 |
| TCEB2 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; protein complex assembly; positive regulation of viral transcription; viral reproduction; gene expression | 16p12.3 |
| TCEB2P2 | - | 11q24.3 |
| TCEB2P3 | - | 2p16.3 |
| TCEB3 | positive regulation of viral transcription; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction | 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; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 5q31 |
| TCERG1L | - | 10q26.3 |
| TCF12 | cell differentiation; muscle organ development; nervous system development; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; immune response; multicellular organismal development | 15q21 |
| TCF15 | paraxial mesoderm development; mesoderm development; multicellular organismal development; death; tail morphogenesis; eating behavior; ear development; skin development; regulation of transcription from RNA polymerase II promoter; respiratory system process; somitogenesis; muscle organ morphogenesis; skeletal system morphogenesis; neuromuscular process controlling posture | 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 | negative regulation of transcription from RNA polymerase II promoter; ureteric bud development; branching involved in ureteric bud morphogenesis; morphogenesis of a branching structure; kidney development; vasculature development; regulation of transcription, DNA-dependent; sex determination; sex differentiation; branchiomeric skeletal muscle development; glomerulus development; positive regulation of transcription from RNA polymerase II promoter; epithelial cell differentiation; lung alveolus development; embryonic digestive tract morphogenesis; metanephric glomerular capillary formation; metanephric mesenchymal cell differentiation; negative regulation of androgen receptor signaling pathway; respiratory system development; diaphragm development; bronchiole development; lung vasculature development; lung morphogenesis; palate development; Sertoli cell differentiation; gland development; reproductive structure development; spleen development | 6q23-q24 |
| TCF23 | multicellular organismal development; muscle organ development; cell differentiation | 2p23.3 |
| TCF24 | regulation of transcription, DNA-dependent | 8q13.1 |
| TCF25 | heart development; negative regulation of transcription from RNA polymerase II promoter | 16q24.3 |
| TCF3 | B cell lineage commitment; G1 phase of mitotic cell cycle; natural killer cell differentiation; transcription, DNA-dependent; regulation of transcription, DNA-dependent; positive regulation of muscle cell differentiation; positive regulation of sequence-specific DNA binding transcription factor activity; protein stabilization; Peyer's patch development; cell development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of cell cycle; positive regulation of neuron differentiation; histone H4 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; histone H3 acetylation | 19p13.3 |
| TCF4 | transcription initiation, DNA-dependent; protein-DNA complex assembly; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of neuron differentiation; cell differentiation; nervous system development; transcription initiation from RNA polymerase II promoter | 18q21.1 |
| TCF7 | brain development; cellular response to interleukin-4; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; immune response; canonical Wnt receptor signaling pathway; generation of neurons; neurogenesis; Wnt receptor signaling pathway | 5q31.1 |
| TCF7L1 | regulation of transcription from RNA polymerase II promoter; axial mesoderm morphogenesis; generation of neurons; stem cell differentiation; canonical Wnt receptor signaling pathway; regulation of stem cell maintenance; positive regulation of transcription from RNA polymerase II promoter during mitosis; chromatin organization; regulation of transcription, DNA-dependent; brain development; anterior/posterior axis specification, embryo; Wnt receptor signaling pathway; neurogenesis; regulation of Wnt receptor signaling pathway; somatic stem cell maintenance; skin development; negative regulation of transcription, DNA-dependent | 2p11.2 |
| TCF7L2 | neurogenesis; Wnt receptor signaling pathway; positive regulation of heparan sulfate proteoglycan biosynthetic process; response to glucose stimulus; canonical Wnt receptor signaling pathway; cell proliferation; brain development; cell cycle arrest; anti-apoptosis; regulation of transcription from RNA polymerase II promoter; blood vessel development; negative regulation of transcription from RNA polymerase II promoter; myoblast cell fate commitment; glucose homeostasis; negative regulation of sequence-specific DNA binding transcription factor activity; maintenance of DNA repeat elements; canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition; fat cell differentiation; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of protein export from nucleus; regulation of smooth muscle cell proliferation; generation of neurons; positive regulation of protein kinase B sig | 10q25.3 |
| TCFL5 | regulation of cell differentiation; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; multicellular organismal development; spermatogenesis; regulation of cell proliferation | 20q13.3-qter |
| TCHH | keratinization | 1q21.3 |
| TCHHL1 | - | 1q21.3 |
| TCHP | negative regulation of cell growth; apoptotic process | 12q24.11 |
| TCIRG1 | ion transport; cellular iron ion homeostasis; cellular defense response; transmembrane transport; positive regulation of cell proliferation; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; transferrin transport | 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; cobalamin metabolic process; cobalt ion transport; ion transport | 22q12.2 |
| TCOF1 | transport; skeletal system development | 5q32 |
| TCP1 | 'de novo' posttranslational protein folding; protein folding; cellular protein metabolic process; tubulin complex assembly | 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 | multicellular organismal development; cell projection organization; cilium morphogenesis | 12q24.11 |
| TCTN2 | cilium morphogenesis; cilium assembly; smoothened signaling pathway; cell projection organization | 12q24.31 |
| TCTN3 | apoptotic process; cell projection organization; cilium morphogenesis | 10q24.1 |
| TDG | DNA repair; base-excision repair; base-excision repair, AP site formation; mismatch repair; metabolic process; depyrimidination | 12q24.1 |
| TDGF1 | positive regulation of cell migration; cell differentiation; cellular response to fibroblast growth factor stimulus; negative regulation of apoptotic process; activation of MAPK activity; vasculogenesis; in utero embryonic development; morphogenesis of a branching structure; positive regulation of cell-matrix adhesion; cellular response to hepatocyte growth factor stimulus; mammary gland development; negative regulation of transforming growth factor beta receptor signaling pathway; BMP signaling pathway; positive regulation of transcription from RNA polymerase II promoter; cell migration involved in sprouting angiogenesis; epidermal growth factor receptor signaling pathway; gastrulation; heart development; positive regulation of cell proliferation; anterior/posterior axis specification, embryo; embryo development; regulation of signal transduction; positive regulation of endothelial cell migration; peptidyl-serine phosphorylation; positive regulation of fibroblast proliferation; positive regulation of peptidy | 3p21.31 |
| TDGF1P1 | - | - |
| TDGF1P4 | - | 6p25 |
| TDGF1P6 | - | 3q22 |
| TDH | cellular metabolic process | 8p23.1 |
| TDO2 | small molecule metabolic process; tryptophan catabolic process; tryptophan catabolic process to kynurenine; tryptophan catabolic process to acetyl-CoA; cellular nitrogen compound metabolic process | 4q31-q32 |
| TDP1 | single strand break repair; cell death; double-strand break repair; DNA repair | 14q32.11 |
| TDP2 | double-strand break repair; cell surface receptor signaling pathway | 6p22.3-p22.1 |
| TDPX2 | - | 9p22 |
| TDRD1 | piRNA metabolic process; germ cell development; DNA methylation involved in gamete generation; meiosis; multicellular organismal development; gene silencing by RNA; cell differentiation; spermatogenesis | 10q25.3 |
| TDRD10 | - | 1q21.3 |
| TDRD12 | - | 19q13.11 |
| TDRD15 | - | 2p24.1 |
| TDRD3 | chromatin modification | 13q21.2 |
| TDRD5 | spermatogenesis; spermatid development; cell differentiation; P granule organization; multicellular organismal development; DNA methylation involved in gamete generation | 1q25.2 |
| TDRD6 | germ cell development; spermatogenesis; multicellular organismal development; cell differentiation | 6p12.3 |
| TDRD7 | posttranscriptional regulation of gene expression; spermatogenesis; germ cell development; lens morphogenesis in camera-type eye; lens fiber cell differentiation | 9q22.33 |
| TDRD9 | piRNA metabolic process; male meiosis; multicellular organismal development; spermatogenesis; fertilization; cell differentiation; gene silencing by RNA; DNA methylation involved in gamete generation | 14q32.33 |
| TDRG1 | - | 6p21.2 |
| TDRKH | - | 1q21 |
| TDRP | - | 8p23.3 |
| TEAD1 | regulation of transcription, DNA-dependent; hippo signaling cascade | 11p15.2 |
| TEAD2 | negative regulation of cell death; 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; neural tube closure; vasculogenesis | 19q13.3 |
| TEAD3 | hippo signaling cascade; female pregnancy; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 6p21.2 |
| TEAD4 | regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; muscle organ development; embryo implantation; hippo signaling cascade; positive regulation of transcription from RNA polymerase II promoter; skeletal system development; in utero embryonic development; trophectodermal cell fate commitment; cell fate specification; blastocyst formation | 12p13.3-p13.2 |
| TEC | B cell receptor signaling pathway; regulation of platelet activation; intracellular protein kinase cascade; integrin-mediated signaling pathway; protein phosphorylation | 4p12 |
| TECPR1 | - | 7q21.3 |
| TECPR2 | - | 14q32.31 |
| TECR | long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process; fatty acid elongation; small molecule metabolic process; cellular lipid metabolic process; very long-chain fatty acid biosynthetic process | 19p13.12 |
| TECRP2 | - | 4q28.1 |
| TECTA | sensory perception of sound; cell-matrix adhesion | 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 | transcription from mitochondrial promoter; regulation of transcription, DNA-dependent; mitochondrial DNA replication; DNA metabolic process; oxidative phosphorylation | - |
| TEK | positive regulation of actin cytoskeleton reorganization; cell-cell signaling; 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; negative regulation of endothelial cell apoptosis; 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; angiogenesis; negative regulation of apoptotic process; regulation of endothelial cell apoptosis; positive regulation of ERK1 and ERK2 cascade; heart trabecula formation; definitive hemopoiesis; positive regulation of protein kinase B signaling cascade; positive regulation of f | 9p21 |
| TEKT1 | microtubule cytoskeleton organization | 17p13.1 |
| TEKT2 | cell projection organization; ciliary or flagellar motility; sperm 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 | positive regulation of mitotic cell cycle; mitotic cell cycle spindle assembly checkpoint; negative regulation of telomerase activity; cell division; protein homooligomerization; positive regulation of mitosis; negative regulation of telomere maintenance via semi-conservative replication; negative regulation of telomere maintenance via telomerase; positive regulation of microtubule polymerization; telomere maintenance via telomere shortening; negative regulation of DNA replication; response to drug; mitosis; 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; telomere maintenance; 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; 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; telomere maintenance via telomere shortening; cell cycle; telomere maintenance via telomerase; regulation of transcription, DNA-dependent; in utero embryonic development; telomere maintenance | 16q22.1 |
| TERF2IP | positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of telomere maintenance; telomere maintenance via telomere lengthening; protection from non-homologous end joining at telomere; telomere maintenance; regulation of transcription, DNA-dependent; telomere maintenance via telomerase; regulation of double-strand break repair via homologous recombination; negative regulation of DNA recombination at telomere; positive regulation of NF-kappaB transcription factor activity; protein localization to chromosome, telomeric region | 16q23.1 |
| TERF2IPP1 | - | 22q11.2 |
| TERT | DNA strand elongation; telomere maintenance via telomerase; anti-apoptosis; RNA-dependent DNA replication; telomere formation via telomerase; replicative senescence; telomere maintenance | 5p15.33 |
| TES | negative regulation of cell proliferation | 7q31.2 |
| TESC | negative regulation of cell proliferation; positive regulation of megakaryocyte differentiation; positive regulation of gene expression; regulation of cell adhesion mediated by integrin; positive regulation of transcription, DNA-dependent | 12q24.22 |
| TESK1 | cell junction assembly; spermatogenesis | 9p13 |
| TESK2 | actin cytoskeleton organization; protein phosphorylation; focal adhesion assembly; spermatogenesis | 1p32 |
| TESPA1 | - | 12q13.2 |
| TET1 | regulation of transcription, DNA-dependent; negative regulation of methylation-dependent chromatin silencing; DNA demethylation; stem cell maintenance; inner cell mass cell differentiation; chromatin modification | 10q21 |
| TET1P1 | - | 13q31.2 |
| TET2 | cell cycle; myeloid cell differentiation | 4q24 |
| TET3 | - | 2p13.1 |
| TEX10 | - | 9q31.1 |
| TEX101 | - | 19q13.31 |
| TEX11 | - | Xq13.1 |
| TEX12 | - | 11q22 |
| TEX13A | - | Xq22.3 |
| TEX13B | - | Xq22.3 |
| TEX14 | - | 17q22 |
| TEX15 | fertilization; regulation of protein localization; synaptonemal complex assembly; protein localization to chromosome; homeostasis of number of cells within a tissue; male meiosis; male genitalia development; regulation of double-strand break repair via homologous recombination; 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 | transmembrane transport; transferrin transport; platelet activation; blood coagulation; cellular iron ion homeostasis; iron ion transport; ion transport; platelet degranulation | 3q22.1 |
| TFAM | DNA-dependent DNA replication; regulation of transcription from RNA polymerase I promoter; positive regulation of transcription, DNA-dependent; transcription from mitochondrial promoter; transcription initiation from mitochondrial promoter; gene expression; mitochondrial respiratory chain complex assembly | 10q21 |
| TFAP2A | negative regulation of transcription from RNA polymerase II promoter; trigeminal nerve development; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; regulation of cell differentiation; positive regulation of neuron apoptosis; negative regulation of apoptotic process; inner ear morphogenesis; embryonic forelimb morphogenesis; positive regulation of bone mineralization; oculomotor nerve formation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription by competitive promoter binding; retina layer formation; positive regulation of gene expression; negative regulation of cell proliferation; sensory perception of sound; transcription from RNA polymerase II promoter; optic cup structural organization; optic vesicle morphogenesis; kidney development; embryonic cranial skeleton morphogenesis; palate development; bone morphogenesis; eyelid development in camera-type eye; positive regulation of tooth mineralizat | 6p24 |
| TFAP2A-AS1 | - | 6p24.3 |
| TFAP2B | renal water homeostasis; forelimb morphogenesis; negative regulation of transcription from RNA polymerase II promoter; kidney development; regulation of BMP signaling pathway; glucose metabolic process; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; nervous system development; sensory organ development; positive regulation of cell proliferation; negative regulation of cell proliferation; retina layer formation; magnesium ion homeostasis; hindlimb morphogenesis; positive regulation of urine volume; collecting duct development; metanephric nephron development; ductus arteriosus closure; distal tubule development; sodium ion homeostasis; potassium ion homeostasis; calcium ion homeostasis; phosphate ion homeostasis; regulation of insulin secretion; sympathetic nervous system development; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; glucose h | 6p12 |
| TFAP2C | negative regulation of transcription from RNA polymerase II promoter; trophectodermal cell differentiation; hair follicle development; keratinocyte development; somatic stem cell maintenance; regulation of transcription from RNA polymerase II promoter; cell-cell signaling; male gonad development; forebrain neuron fate commitment; cerebral cortex development; germ-line stem cell maintenance; skin development; regulation of epidermis development; positive regulation of transcription from RNA polymerase II promoter; sebaceous gland development; dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis; epithelial cell proliferation involved in mammary gland duct elongation | 20q13.2 |
| TFAP2D | positive regulation of transcription, DNA-dependent | 6p12.1 |
| TFAP2E | positive regulation of transcription from RNA polymerase II promoter | 1p34.3 |
| TFAP4 | regulation of S phase of mitotic cell cycle; protein complex assembly; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; negative regulation of cell proliferation; positive regulation of apoptotic process; negative regulation of apoptotic process; 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 cyclin-dependent protein kinase activity; positive regulation by host of viral transcription; negative regulation by host of viral transcription; negative regulation of DNA binding | 16p13 |
| TFB1M | regulation of transcription, DNA-dependent | 6q25.1-q25.3 |
| TFB2M | transcription from mitochondrial promoter; transcription initiation from mitochondrial promoter; gene expression; positive regulation of transcription, DNA-dependent | 1q44 |
| TFCP2 | regulation of transcription from RNA polymerase II promoter | 12q13 |
| TFCP2L1 | positive regulation of growth; cell morphogenesis; epithelial cell maturation; regulation of transcription from RNA polymerase II promoter; steroid biosynthetic process; cytoplasm organization; salivary gland development; female pregnancy; determination of adult lifespan; negative regulation of transcription from RNA polymerase II promoter | 2q14 |
| TFDP1 | cell proliferation; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; mitotic cell cycle; regulation of transcription from RNA polymerase II promoter | 13q34 |
| TFDP2 | heart development; G1 phase of mitotic cell cycle; regulation of transcription, DNA-dependent; mitotic cell cycle | 3q23 |
| TFDP3 | G1/S transition of mitotic cell cycle; response to DNA damage stimulus | Xq26.2 |
| TFE3 | regulation of transcription, DNA-dependent; humoral immune response; regulation of osteoclast differentiation; positive regulation of transcription from RNA polymerase II promoter | Xp11.22 |
| TFEB | embryonic placenta development; regulation of transcription, DNA-dependent; humoral immune response; positive regulation of transcription from RNA polymerase II promoter | 6p21 |
| TFEC | regulation of transcription, DNA-dependent; cellular response to heat | 7q31.2 |
| TFF1 | response to estradiol stimulus; carbohydrate metabolic process; response to stress; digestion; response to iron ion; maintenance of gastrointestinal epithelium; 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 | regulation of transcription, DNA-dependent; biomineral tissue development; RNA splicing; RNA processing; nuclear mRNA splicing, via spliceosome | 22q12.1 |
| TFP1 | - | 3q22.1 |
| TFPI | blood coagulation, extrinsic pathway; blood coagulation; negative regulation of endopeptidase activity | 2q32 |
| TFPI2 | blood coagulation | 7q22 |
| TFPT | induction of apoptosis; apoptotic process; regulation of transcription, DNA-dependent; DNA repair; DNA recombination | 19q13 |
| TFR2 | cellular iron ion homeostasis; proteolysis; iron ion transport | 7q22 |
| TFRC | response to retinoic acid; interspecies interaction between organisms; positive regulation of bone resorption; response to copper ion; transmembrane transport; transferrin transport; response to hypoxia; proteolysis; endocytosis; osteoclast differentiation; response to manganese ion; response to iron ion; response to inorganic substance; response to organic substance; response to nutrient; aging; acute-phase response; cellular iron ion homeostasis | 3q29 |
| TG | transcytosis; hormone biosynthetic process; response to lipopolysaccharide; regulation of myelination; thyroid gland development; iodide transport; response to pH; synapse assembly; signal transduction; thyroid hormone generation | 8q24 |
| TGDS | cellular metabolic process; nucleotide-sugar metabolic process | 13q32.1 |
| TGFA | positive regulation of cell division; cytosolic calcium ion homeostasis; activation of MAPK activity; MAPK cascade; mammary gland alveolus development; positive regulation of epithelial cell proliferation; negative regulation of cellular process; positive regulation of mitosis; positive regulation of epidermal growth factor-activated receptor activity; neuroprotection; negative regulation of neuron apoptosis; response to drug; wound healing; cell proliferation; epidermal growth factor receptor signaling pathway; anti-apoptosis; positive regulation of protein phosphorylation; angiogenesis | 2p13 |
| TGFB1 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of mitotic cell cycle; digestive tract development; positive regulation of transcription, DNA-dependent; 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 of blood vessel endothelial cell migration; protein kinase B signaling cascade; positive regulation of MAP kinase activity; T cell homeostasis; myeloid dendritic cell differentiation; myelination; lens fiber cell differentiation; positive regulation of protein kinase B signaling cascade; face morphogenesis; frontal suture morphogenesis; pathway-restricted SMAD protein phosphorylation | 19q13.1 |
| TGFB1I1 | negative regulation of cell proliferation; ubiquitin-dependent SMAD protein catabolic process; transcription from RNA polymerase II promoter; cell adhesion; positive regulation of transcription, DNA-dependent; positive regulation of epithelial to mesenchymal transition; Wnt receptor signaling pathway; cell differentiation; positive regulation of transforming growth factor beta receptor signaling pathway; negative regulation of transforming growth factor beta receptor signaling pathway; androgen receptor signaling pathway | 16p11.2 |
| TGFB2 | cell-cell junction organization; positive regulation of integrin biosynthetic process; positive regulation of ossification; positive regulation of cell cycle; positive regulation of heart contraction; somatic stem cell division; embryonic digestive tract development; neuron development; 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; cell migration; hair follicle development; platelet degranulation; heart morphogenesis; protein phosphorylation; cell cycle arrest; transforming growth factor beta receptor signaling pathway; SMAD protein import into nucleus; positive regulation of neuron apoptosis; cell-cell signalin | 1q41 |
| TGFB2-AS1 | - | 1q41 |
| TGFB3 | positive regulation of transcription, DNA-dependent; embryonic neurocranium morphogenesis; digestive tract development; lung alveolus development; positive regulation of transcription from RNA polymerase II promoter; face morphogenesis; inner ear development; positive regulation of protein secretion; cellular response to growth factor stimulus; detection of hypoxia; positive regulation of SMAD protein import into nucleus; frontal suture morphogenesis; positive regulation of filopodium assembly; positive regulation of cell division; palate development; induction of apoptosis; positive regulation of epithelial to mesenchymal transition; organ morphogenesis; positive regulation of DNA replication; embryo development; activation of MAPK activity; response to hypoxia; in utero embryonic development; platelet degranulation; cell-cell junction organization; transforming growth factor beta receptor signaling pathway; salivary gland morphogenesis; negative regulation of cell proliferation; negative regulation of DNA r | 14q24 |
| TGFBI | angiogenesis; chondrocyte differentiation; negative regulation of cell adhesion; visual perception; response to stimulus; extracellular matrix organization; cell proliferation | 5q31 |
| TGFBR1 | heart development; lung development; positive regulation of cell growth; collagen fibril organization; peptidyl-threonine phosphorylation; peptidyl-serine phosphorylation; response to organic cyclic compound; positive regulation of pathway-restricted SMAD protein phosphorylation; pathway-restricted SMAD protein phosphorylation; anterior/posterior pattern specification; post-embryonic development; embryo development; response to toxin; germ cell migration; positive regulation of cell proliferation; aging; embryo implantation; digestive tract development; response to cholesterol; positive regulation of SMAD protein import into nucleus; pharyngeal system development; palate development; parathyroid gland development; positive regulation of protein kinase B signaling cascade; response to electrical stimulus; positive regulation of filopodium assembly; positive regulation of cellular component movement; cell motility; artery morphogenesis; mesenchymal cell differentiation; skeletal system morphogenesis; embryonic | 9q22 |
| TGFBR2 | embryonic cranial skeleton morphogenesis; positive regulation of NK T cell differentiation; apoptotic process; palate development; myeloid dendritic cell differentiation; response to drug; regulation of cell proliferation; regulation of growth; embryonic hemopoiesis; activation of protein kinase activity; peptidyl-threonine phosphorylation; peptidyl-serine phosphorylation; positive regulation of cell proliferation; heart development; brain development; transforming growth factor beta receptor signaling pathway; blood vessel development; patterning of blood vessels; vasculogenesis; positive regulation of mesenchymal cell proliferation; positive regulation of tolerance induction to self antigen; positive regulation of B cell tolerance induction; positive regulation of T cell tolerance induction; protein phosphorylation; response to cholesterol; positive regulation of reactive oxygen species metabolic process; pathway-restricted SMAD protein phosphorylation | 3p22 |
| TGFBR3 | liver development; pathway-restricted SMAD protein phosphorylation; heart trabecula formation; definitive erythrocyte differentiation; cardiac epithelial to mesenchymal transition; definitive hemopoiesis; cardiac muscle cell proliferation; palate development; ventricular cardiac muscle tissue morphogenesis; negative regulation of cellular component movement; negative regulation of epithelial cell proliferation; response to luteinizing hormone stimulus; response to prostaglandin E stimulus; response to follicle-stimulating hormone stimulus; BMP signaling pathway; cell migration; cell growth; intracellular protein kinase cascade; transforming growth factor beta receptor signaling pathway; immune response; heart morphogenesis; epithelial to mesenchymal transition | 1p33-p32 |
| TGFBR3L | - | 19p13.2 |
| TGFBRAP1 | intracellular protein transport; vesicle-mediated transport; regulation of transcription, DNA-dependent; transforming growth factor beta receptor signaling pathway; signal transduction | 2q12.1 |
| TGIF1 | positive regulation of neuron differentiation; cellular response to growth factor stimulus; retina development in camera-type eye; negative regulation of transcription from RNA polymerase II promoter; neural tube closure; multicellular organismal development; determination of left/right symmetry; negative regulation of cell proliferation; negative regulation of retinoic acid receptor signaling pathway; positive regulation of fibroblast proliferation; dorsal/ventral pattern formation; negative regulation of gene expression; response to drug | 18p11.3 |
| TGIF1P1 | - | 19q13.32 |
| TGIF2 | retina development in camera-type eye; regulation of transcription, DNA-dependent; positive regulation of neuron differentiation | 20q11.23 |
| TGIF2LY | - | Yp11.2 |
| TGM1 | keratinocyte differentiation; protein modification process; peptide cross-linking; keratinization; cell envelope organization | 14q11.2 |
| TGM2 | apoptotic cell clearance; salivary gland cavitation; branching involved in salivary gland morphogenesis; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; protein homooligomerization; positive regulation of cell adhesion; positive regulation of inflammatory response; positive regulation of smooth muscle cell proliferation; blood vessel remodeling; induction of apoptosis; metabolic process; peptide cross-linking; isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine; positive regulation of I-kappaB kinase/NF-kappaB cascade | 20q12 |
| TGM3 | protein tetramerization; cell envelope organization; keratinization; hair follicle morphogenesis; keratinocyte differentiation; peptide cross-linking; GTP catabolic process; protein modification process | 20q11.2 |
| TGM4 | peptide cross-linking; protein polyamination | 3p22-p21.33 |
| TGM5 | peptide cross-linking; epidermis development; protein modification process | 15q15.2 |
| TGM6 | peptide cross-linking; cell death | 20p13 |
| TGM7 | peptide cross-linking | 15q15.2 |
| TGOLN2 | - | 2p11.2 |
| TGS1 | RNA capping; ribonucleoprotein complex import into nucleus; RNA methylation; gene expression; small molecule metabolic process; cellular lipid metabolic process; ncRNA metabolic process; spliceosomal snRNP assembly; ribonucleoprotein complex biogenesis; RNA metabolic process; regulation of transcription, DNA-dependent | 8q11 |
| TH | memory; learning; sensory perception of sound; mating behavior; locomotory behavior; regulation of heart contraction; aromatic amino acid family metabolic process; response to water deprivation; visual perception; heart development; sphingolipid metabolic process; dopamine biosynthetic process from tyrosine; fatty acid metabolic process; heart morphogenesis; small molecule metabolic process; multicellular organismal aging; response to zinc ion; organ morphogenesis; anatomical structure morphogenesis; norepinephrine biosynthetic process; catecholamine biosynthetic process; eye photoreceptor cell development; circadian sleep/wake cycle; eating behavior; response to peptide hormone stimulus; pigmentation; response to activity; response to ethanol; response to ether; response to pyrethroid; response to steroid hormone stimulus; embryonic camera-type eye morphogenesis; cognition; response to corticosterone stimulus; response to electrical stimulus; phytoalexin metabolic process; oxidation-reduction process; cellul | 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 | blood coagulation; female pregnancy; embryo development; response to X-ray; negative regulation of platelet activation; negative regulation of blood coagulation; response to lipopolysaccharide; leukocyte migration; response to cAMP; negative regulation of fibrinolysis | 20p11.2 |
| THBS1 | positive regulation of macrophage activation; negative regulation of cGMP-mediated signaling; negative regulation of nitric oxide mediated signal transduction; negative regulation of plasma membrane long-chain fatty acid transport; negative regulation of endothelial cell migration; response to magnesium ion; response to progesterone stimulus; negative regulation of interleukin-12 production; positive regulation of transforming growth factor beta1 production; cellular response to heat; negative regulation of fibroblast growth factor receptor signaling pathway; positive regulation of phosphorylation; response to drug; positive regulation of tumor necrosis factor biosynthetic process; platelet activation; negative regulation of apoptotic process; 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 o | 15q15 |
| THBS2 | positive regulation of synapse assembly; negative regulation of angiogenesis; cell adhesion | 6q27 |
| THBS3 | cell adhesion; growth plate cartilage development; cell-matrix adhesion; ossification involved in bone maturation; bone trabecula formation | 1q21 |
| THBS4 | 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; positive regulation of cell division; endothelial cell-cell adhesion; positive regulation of neutrophil chemotaxis | 5q13 |
| THEG | chaperone-mediated protein complex assembly; cell differentiation; spermatogenesis; multicellular organismal development | 19p13.3 |
| THEG5 | - | 19q12 |
| THEGL | - | - |
| THEM4 | nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway | 1q21 |
| THEM5 | - | 1q21.3 |
| THEM6 | - | 8q24.3 |
| THEMIS | negative T cell selection; positive T cell selection; T cell receptor signaling pathway; multicellular organismal development | 6q22.33 |
| THEMIS2 | - | 1p35.3 |
| THG1L | tRNA modification; tRNA processing; protein homotetramerization | 5q33.3 |
| THNSL1 | threonine biosynthetic process | 10p12.1 |
| THNSL2 | serine family amino acid catabolic process; threonine biosynthetic process; dephosphorylation; 2-oxobutyrate biosynthetic process | 2p11.2 |
| THOC1 | transport; regulation of transcription elongation, DNA-dependent; apoptotic process; intronless viral mRNA export from host nucleus; mRNA export from nucleus; mRNA processing; RNA processing; signal transduction; RNA splicing | 18p11.32 |
| THOC2 | mRNA processing; mRNA export from nucleus; RNA splicing; transport; intronless viral mRNA export from host nucleus | Xq25-q26.3 |
| THOC3 | intronless viral mRNA export from host nucleus; RNA splicing; transport; mRNA export from nucleus; mRNA processing | 5q35.2 |
| THOC5 | intronless viral mRNA export from host nucleus; negative regulation of macrophage differentiation; monocyte differentiation; cell differentiation; RNA splicing; transport; mRNA export from nucleus; mRNA processing; primitive hemopoiesis | 22q12.2 |
| THOC6 | mRNA processing; intronless viral mRNA export from host nucleus; RNA splicing; transport; mRNA export from nucleus | 16p13.3 |
| THOC7 | mRNA export from nucleus; intronless viral mRNA export from host nucleus; RNA splicing; transport; mRNA processing | 3p14.1 |
| THOP1 | proteolysis | 19p13.3 |
| THPO | positive regulation of cell proliferation; blood coagulation; multicellular organismal development; cell proliferation; response to lipopolysaccharide; platelet activation; myeloid cell differentiation | 3q27 |
| THRA | negative regulation of RNA polymerase II transcriptional preinitiation complex assembly; gene expression; negative regulation of transcription, DNA-dependent; negative regulation of transcription initiation, DNA-dependent; hormone-mediated signaling pathway; transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 17q11.2 |
| THRAP3 | positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; androgen receptor signaling pathway; transcription initiation from RNA polymerase II promoter; 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 transcription, DNA-dependent; lipid metabolic process; regulation of triglyceride biosynthetic process; regulation of lipid biosynthetic process | 11q14.1 |
| THSD1 | - | 13q14.3 |
| THSD4 | elastic fiber assembly | 15q23 |
| THSD7A | - | 7p21.3 |
| THSD7B | - | 2q22.1 |
| THTPA | generation of precursor metabolites and energy; small molecule metabolic process; thiamine-containing compound metabolic process; dephosphorylation; thiamine metabolic process; water-soluble vitamin metabolic process; vitamin metabolic process | 14q11.2 |
| THUMPD1 | - | 16p12.3 |
| THUMPD2 | - | 2p22.1|2p22-p21 |
| THUMPD3 | - | 3p25.3 |
| THUMPD3-AS1 | - | 3p25.3 |
| THY1 | T cell receptor signaling pathway; angiogenesis; negative regulation of protein kinase activity; cytoskeleton organization; cell-cell adhesion; negative regulation of cell migration; positive regulation of Rho GTPase activity; positive regulation of GTPase activity; retinal cone cell development; focal adhesion assembly; negative regulation of axonogenesis; negative regulation of T cell receptor signaling pathway; positive regulation of T cell activation; positive regulation of release of sequestered calcium ion into cytosol | 11q23.3 |
| THYN1 | - | 11q25 |
| TIA1 | regulation of nuclear mRNA splicing, via spliceosome; negative regulation of cytokine biosynthetic process; negative regulation of translation; apoptotic process; induction of apoptosis | 2p13 |
| TIAF1 | apoptotic process; I-kappaB kinase/NF-kappaB cascade; anti-apoptosis | 17q11.2 |
| TIAL1 | induction of apoptosis; regulation of transcription from RNA polymerase II promoter; apoptotic process; defense response | 10q |
| TIAM1 | regulation of catalytic activity; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; apoptotic process; positive regulation of axonogenesis; ephrin receptor signaling pathway; regulation of Rho protein signal transduction; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals | 21q22.11 |
| TIAM2 | cellular lipid metabolic process; small molecule metabolic process; apoptotic process; nerve growth factor receptor signaling pathway; small GTPase mediated signal transduction; regulation of Rho protein signal transduction; induction of apoptosis by extracellular signals; regulation of small GTPase mediated signal transduction | 6q25.2 |
| TICAM1 | TRIF-dependent toll-like receptor signaling pathway; signal transduction; induction of apoptosis by extracellular signals; Toll signaling pathway; regulation of protein homodimerization activity; I-kappaB kinase/NF-kappaB cascade; positive regulation of chemokine biosynthetic process; innate immune response; positive regulation of interferon-beta biosynthetic process; positive regulation of nitric oxide biosynthetic process; positive regulation of B cell proliferation; inflammatory response; defense response to virus; apoptotic process; positive regulation of NF-kappaB transcription factor activity; MyD88-independent toll-like receptor signaling pathway; toll-like receptor signaling pathway; macrophage activation involved in immune response; MyD88-dependent toll-like receptor signaling pathway; positive regulation of interleukin-6 production; positive regulation of I-kappaB kinase/NF-kappaB cascade; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling | 19p13.3 |
| TICAM2 | innate immune response; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; inflammatory response; signal transduction; I-kappaB kinase/NF-kappaB cascade; Toll signaling pathway; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 4 signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade | 5q23.1 |
| TICRR | - | 15q26.1 |
| TIE1 | in utero embryonic development; signal transduction; mesoderm development; negative regulation of angiogenesis; negative regulation of cell migration; response to retinoic acid; plasma membrane fusion | 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 | detection of abiotic stimulus; morphogenesis of an epithelium; response to DNA damage stimulus; cell cycle; mitosis; multicellular organismal development; circadian rhythm; response to abiotic stimulus; regulation of S phase; regulation of cell proliferation; negative regulation of transcription, DNA-dependent; cell division | 12q13.3 |
| TIMM10 | chaperone-mediated protein transport; protein import into mitochondrial inner membrane; sensory perception of sound; protein targeting to mitochondrion | 11q12.1-q12.3 |
| TIMM10B | - | 11p15.4 |
| TIMM13 | protein targeting to mitochondrion; chaperone-mediated protein transport; protein import into mitochondrial inner membrane; sensory perception of sound | 19p13.3 |
| TIMM17A | intracellular protein transport; protein targeting to mitochondrion | 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 | protein targeting to mitochondrion; intracellular protein transport | 10q11.23 |
| TIMM44 | protein targeting to mitochondrion; intracellular protein transport | 19p13.3-p13.2 |
| TIMM50 | protein dephosphorylation; release of cytochrome c from mitochondria; mitochondrial membrane organization; protein transport; peptidyl-tyrosine dephosphorylation | 19q13.2 |
| TIMM8A | chaperone-mediated protein transport; protein import into mitochondrial inner membrane; nervous system development | Xq22.1 |
| TIMM8B | protein targeting to mitochondrion; chaperone-mediated protein transport; protein import into mitochondrial inner membrane; sensory perception of sound | 11q23.1-q23.2 |
| TIMM8BP1 | - | - |
| TIMM9 | sensory perception of sound; protein targeting to mitochondrion; protein import into mitochondrial inner membrane; chaperone-mediated protein transport | 14q21 |
| TIMMDC1 | - | 3q13.33 |
| TIMP1 | negative regulation of membrane protein ectodomain proteolysis; cell activation; response to peptide hormone stimulus; erythrocyte maturation; negative regulation of apoptotic process; wound healing; response to cytokine stimulus; platelet activation; positive regulation of cell proliferation; blood coagulation; aging; platelet degranulation | Xp11.3-p11.23 |
| TIMP2 | regulation of neuron differentiation; regulation of MAPK cascade; regulation of cAMP metabolic process; negative regulation of cell proliferation | 17q25 |
| TIMP3 | central nervous system development; aging; visual perception; response to mechanical stimulus; response to hormone stimulus; response to organic cyclic compound; tissue regeneration; response to amino acid stimulus; response to estrogen stimulus; response to stimulus; negative regulation of membrane protein ectodomain proteolysis; response to folic acid | 22q12.3 |
| TIMP4 | central nervous system development; response to lipopolysaccharide; response to cytokine stimulus; response to drug; ovulation cycle; response to peptide hormone stimulus | 3p25 |
| TINAG | Malpighian tubule morphogenesis; cell adhesion; immune response; proteolysis | 6p12.1 |
| TINAGL1 | proteolysis; immune response; endosome transport | 1p35.2 |
| TINCR | - | 19p13.3 |
| TINF2 | protein localization to chromosome; negative regulation of telomere maintenance via telomerase; positive regulation of telomere maintenance; negative regulation of telomere maintenance; telomere assembly; negative regulation of protein ADP-ribosylation; telomere maintenance via telomere lengthening; telomere maintenance; protein localization to chromosome, telomeric region; negative regulation of epithelial cell proliferation | 14q12 |
| TIPARP | hemopoiesis; nitrogen compound metabolic process; multicellular organismal metabolic process; protein ADP-ribosylation; post-embryonic development; female gonad development; estrogen metabolic process; androgen metabolic process; vasculogenesis; kidney development; face morphogenesis; palate development; smooth muscle tissue development; skeletal system morphogenesis; platelet-derived growth factor receptor signaling pathway | 3q25.31 |
| TIPARP-AS1 | - | 3q25.31 |
| TIPIN | DNA replication checkpoint; response to UV; intra-S DNA damage checkpoint; cell cycle; regulation of S phase; regulation of DNA replication involved in S phase; replication fork protection; cell division; mitosis; positive regulation of cell proliferation | 15q22.31 |
| TIPRL | negative regulation of protein phosphatase type 2A activity; DNA damage checkpoint | 1q23.2 |
| TIRAP | positive regulation of interleukin-8 production; toll-like receptor 2 signaling pathway; innate immune response; cell surface receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; positive regulation of protein homodimerization activity; positive regulation of neutrophil chemotaxis; negative regulation of growth of symbiont in host; toll-like receptor 1 signaling pathway; positive regulation of tumor necrosis factor production; positive regulation of toll-like receptor 2 signaling pathway; positive regulation of interleukin-15 production; positive regulation of interleukin-12 production; MyD88-dependent toll-like receptor signaling pathway; Toll signaling pathway; cellular response to lipoteichoic acid; cellular response to bacterial lipopeptide; positive regulation of ERK1 and ERK2 cascade; 3'-UTR-mediated mRNA stabilization; positive regulation of toll-like receptor 3 signaling pathway; regulation of interferon-beta production; response to lipopolysaccharide; positive r | 11q24.2 |
| TJAP1 | - | 6p21.1 |
| TJP1 | blastocyst formation; apoptotic process; cellular component disassembly involved in apoptosis; cell-cell junction assembly | 15q13 |
| TJP2 | apoptotic process; cellular component disassembly involved in apoptosis | 9q13-q21 |
| TJP3 | - | 19p13.3 |
| TK1 | nucleobase-containing small molecule metabolic process; protein homotetramerization; small molecule metabolic process; pyrimidine nucleoside salvage; nucleotide biosynthetic process; DNA replication; pyrimidine base metabolic process; nucleobase-containing compound metabolic process | 17q23.2-q25.3 |
| TK2 | nucleobase-containing small molecule metabolic process; small molecule metabolic process; nucleobase-containing compound metabolic process; pyrimidine nucleoside salvage; DNA replication; pyrimidine base metabolic process | 16q22-q23.1 |
| TKFC | innate immune response; glycerol metabolic process | 11q12.2 |
| TKT | energy reserve metabolic process; pentose-phosphate shunt; xylulose biosynthetic process; carbohydrate metabolic process; pentose-phosphate shunt, non-oxidative branch; regulation of growth; small molecule metabolic process; ribose phosphate biosynthetic process | 3p14.3 |
| TKTL1 | glucose catabolic process; thiamine metabolic 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 transcription, DNA-dependent; negative regulation of canonical Wnt receptor signaling pathway; 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 | intracellular protein transport; intracellular signal transduction; protein phosphorylation; regulation of chromatin assembly or disassembly; response to DNA damage stimulus; cell cycle; chromatin modification | 2q31.1 |
| TLK1P1 | - | 9q33.2 |
| TLK2 | regulation of chromatin assembly or disassembly; intracellular signal transduction; protein phosphorylation; response to DNA damage stimulus; cell cycle; chromatin modification | 17q23 |
| TLL1 | skeletal system development; cell differentiation; proteolysis; multicellular organismal development | 4q32-q33 |
| TLL2 | proteolysis; multicellular organismal development; cell differentiation | 10q23-q24 |
| TLN1 | cell-cell junction assembly; endoplasmic reticulum unfolded protein response; cortical actin cytoskeleton organization; platelet activation; blood coagulation; axon guidance; cell adhesion; cell-substrate junction assembly; cytoskeletal anchoring at plasma membrane; activation of signaling protein activity involved in unfolded protein response; muscle contraction; cellular component movement; platelet degranulation | 9p13 |
| TLN2 | cell adhesion; cell-cell junction assembly; cytoskeletal anchoring at plasma membrane | 15q15-q21 |
| TLR1 | immune response; toll-like receptor signaling pathway; microglial cell activation involved in immune response; inflammatory response; signal transduction; response to bacterial lipoprotein; macrophage activation; detection of triacyl bacterial lipopeptide; positive regulation of tumor necrosis factor biosynthetic process; defense response to bacterium; 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 | 4p14 |
| TLR10 | MyD88-dependent toll-like receptor signaling pathway; inflammatory response; immune response; signal transduction; innate immune response | 4p14 |
| TLR12P | - | 1p35.1 |
| TLR2 | toll-like receptor 4 signaling pathway; lipopolysaccharide-mediated signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; 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; positive regulation of NF-kappaB import into nucleus; detection of triacyl bacterial lipopeptide; detection of diacyl bacterial lipopeptide; innate immune response; positive regulation of transcription from RNA polymerase II promoter; positive regulation of inflammatory response; positive regulation of NF-kappaB transcription factor activity; positive regulation of nitric-oxide synthase biosynthetic process; cellular response to bacterial li | 4q32 |
| TLR3 | hyperosmotic response; positive regulation of protein phosphorylation; microglial cell activation involved in immune response; MyD88-independent toll-like receptor signaling pathway; positive regulation of tumor necrosis factor production; signal transduction; activation of NF-kappaB-inducing kinase activity; I-kappaB phosphorylation; male gonad development; detection of virus; positive regulation of chemokine production; positive regulation of interferon-beta production; positive regulation of interleukin-12 production; positive regulation of interleukin-6 production; positive regulation of interleukin-8 production; positive regulation of type III interferon production; positive regulation of transcription from RNA polymerase II promoter; negative regulation of osteoclast differentiation; positive regulation of interferon-beta biosynthetic process; positive regulation of interferon-alpha biosynthetic process; innate immune response; positive regulation of chemokine biosynthetic process; positive regulation o | 4q35 |
| TLR4 | response to insulin stimulus; response to ethanol; positive regulation of nitric oxide biosynthetic process; positive regulation of interleukin-8 biosynthetic process; positive regulation of interferon-beta biosynthetic process; positive regulation of MHC class II biosynthetic process; innate immune response; 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; intestinal epithelial structure maintenance; cellular response to mechanical stimulus; cellular response to lipoteichoic acid; cellular response to lipopolysaccharide; response to fatty aci | 9q33.1 |
| TLR5 | MyD88-dependent toll-like receptor signaling pathway; cellular response to mechanical stimulus; innate immune response; positive regulation of toll-like receptor signaling pathway; positive regulation of interleukin-8 production; signal transduction; inflammatory response | 1q41-q42 |
| TLR6 | signal transduction; toll-like receptor 2 signaling pathway; activation of NF-kappaB-inducing kinase activity; Toll signaling pathway; T-helper 1 type immune response; toll-like receptor 1 signaling pathway; detection of diacyl bacterial lipopeptide; defense response to bacterium; positive regulation of I-kappaB kinase/NF-kappaB cascade; immune response; inflammatory response; MyD88-dependent toll-like receptor signaling pathway; positive regulation of JUN kinase activity; innate immune response; positive regulation of interleukin-6 biosynthetic process; toll-like receptor signaling pathway; cellular response to diacyl bacterial lipopeptide; toll-like receptor 4 signaling pathway | 4p14 |
| TLR7 | innate immune response; positive regulation of interleukin-8 production; positive regulation of interferon-gamma biosynthetic process; positive regulation of NF-kappaB import into nucleus; positive regulation of interleukin-6 production; response to chemical stimulus; toll-like receptor 7 signaling pathway; positive regulation of interferon-beta biosynthetic process; I-kappaB phosphorylation; defense response to virus; pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response; signal transduction; microglial cell activation involved in immune response; positive regulation of chemokine production; positive regulation of inflammatory response; cellular response to mechanical stimulus; positive regulation of interleukin-8 biosynthetic process; positive regulation of interferon-alpha biosynthetic process | Xp22.3 |
| TLR8-AS1 | - | Xp22.31 |
| TLR9 | positive regulation of chemokine production; positive regulation of toll-like receptor signaling pathway; positive regulation of interferon-beta production; positive regulation of NF-kappaB import into nucleus; positive regulation of interleukin-10 production; positive regulation of interleukin-12 production; positive regulation of interleukin-18 production; positive regulation of interleukin-6 production; positive regulation of interleukin-8 production; negative regulation of toll-like receptor signaling pathway; positive regulation of tumor necrosis factor production; positive regulation of inflammatory response; negative regulation of interleukin-8 production; positive regulation of interferon-beta biosynthetic process; defense response to bacterium; negative regulation of interleukin-6 production; positive regulation of nitric-oxide synthase biosynthetic process; negative regulation of NF-kappaB transcription factor activity; maintenance of gastrointestinal epithelium; positive regulation of NF-kappaB tra | 3p21.3 |
| TLX1 | spleen development; neuron differentiation; positive regulation of cell proliferation; central nervous system development; multicellular organismal development; cell fate commitment; organ formation; positive regulation of transcription from RNA polymerase II promoter | 10q24 |
| TLX1NB | - | 10q24 |
| TLX3 | central nervous system development; multicellular organismal development; regulation of respiratory gaseous exchange by neurological system process; neuron migration; respiratory gaseous exchange; negative regulation of neuron differentiation; neuron fate specification | 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 | cholesterol biosynthetic process; small molecule metabolic 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 | cell-cell signaling; signal transduction; protein transport | 19p13.2 |
| TMED10 | beta-amyloid formation; Golgi organization; retrograde vesicle-mediated transport, Golgi to ER; ER to Golgi vesicle-mediated transport; intracellular protein transport; cargo loading into vesicle; vesicle targeting, to, from or within Golgi; COPI coating of Golgi vesicle; COPII vesicle coating; COPI-coated vesicle budding; regulated secretory pathway | 14q24.3 |
| TMED10P1 | - | 8q24.3 |
| TMED10P2 | - | 3q21.3 |
| TMED11P | - | 4p16.3 |
| TMED2 | neural tube closure; embryonic morphogenesis; protein targeting to plasma membrane; embryonic placenta development; maternal placenta development; heart looping; intracellular protein transport; ER to Golgi vesicle-mediated transport; Golgi organization; positive regulation of gene expression; negative regulation of GTPase activity; tail morphogenesis; multicellular organism growth; cargo loading into vesicle; COPI coating of Golgi vesicle; COPII vesicle coating; somite rostral/caudal axis specification | 12q24.31 |
| TMED3 | protein transport | 15q24-q25 |
| TMED4 | positive regulation of I-kappaB kinase/NF-kappaB cascade; protein transport; signal transduction | 7p13 |
| TMED5 | protein transport; Golgi ribbon formation | 1pter-q31.3 |
| TMED6 | transport | 16q22.1 |
| TMED7 | protein transport | 5q22.3 |
| TMED8 | transport | 14q24.3 |
| TMED9 | protein transport; protein exit from endoplasmic reticulum; early endosome to Golgi transport; positive regulation of organelle organization; Golgi organization; COPI coating of Golgi vesicle | 5q35.3 |
| TMEFF1 | multicellular organismal development | 9q31 |
| TMEFF2 | - | 2q32.3 |
| TMEM100 | - | 17q22 |
| TMEM101 | signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 17q21.31 |
| TMEM102 | signal transduction; response to cytokine stimulus; 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 | replicative cell aging; negative regulation of cell proliferation | 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 | negative regulation of apoptotic process; cellular response to UV; cellular response to oxidative stress; response to retinoic acid; positive regulation of DNA repair | 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; cell projection organization; cilium assembly | 2p15 |
| TMEM170A | - | 16q23.1 |
| TMEM170B | - | 6p24.2 |
| TMEM171 | - | 5q13.2 |
| TMEM173 | positive regulation of protein binding; activation of innate immune response; positive regulation of defense response to virus by host; apoptotic process; positive regulation of protein import into nucleus, translocation; cellular response to exogenous dsRNA; defense response to virus; positive regulation of transcription from RNA polymerase II promoter; innate immune response; positive regulation of transcription factor import into nucleus; interferon-beta production | 5q31.2 |
| TMEM174 | - | 5q13.2 |
| TMEM175 | - | 4p16.3 |
| TMEM176A | - | 7q36.1 |
| TMEM176B | organ morphogenesis; cell differentiation | 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 | lymph vessel development; smooth muscle cell differentiation; regulation of vascular endothelial growth factor receptor signaling pathway; 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 | smoothened signaling pathway; cilium assembly; 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 | protein localization to organelle; positive regulation of protein exit from endoplasmic reticulum | 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 | ion transport; potassium ion transmembrane transport; potassium 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 assembly; ER-associated protein catabolic process; branching morphogenesis of a tube; cilium morphogenesis; cell projection organization; negative regulation of centrosome duplication | 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 | cell adhesion; cell-matrix adhesion; regulation of mitotic cell cycle; regulation of growth | 9p13.3 |
| TMEM8C | - | 9q34.2 |
| TMEM9 | transport | - |
| TMEM91 | response to biotic stimulus | 19q13.2 |
| TMEM92 | - | 17q21.33 |
| TMEM95 | - | 17p13.1 |
| TMEM97 | regulation of cell growth; cholesterol homeostasis | 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 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 3p21-p12 |
| TMIE | sensory perception of sound; inner ear morphogenesis | 3p21 |
| TMIGD2 | - | 19p13.3 |
| TMLHE | small molecule metabolic process; cellular nitrogen compound metabolic process; carnitine biosynthetic process; negative regulation of oxidoreductase activity | Xq28 |
| TMOD1 | muscle filament sliding; myofibril assembly | 9q22.3 |
| TMOD2 | neuron-neuron synaptic transmission; learning or memory; positive regulation of G-protein coupled receptor protein signaling pathway; nervous system development | 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 | cell cycle; proteolysis | 4q13.2 |
| TMPRSS11BNL | - | 4q13.2 |
| TMPRSS11D | proteolysis; respiratory gaseous exchange; regulation of growth | 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 | cellular sodium ion homeostasis; proteolysis; sensory perception of sound | 21q22.3 |
| TMPRSS4 | proteolysis | 11q23.3 |
| TMPRSS5 | proteolysis | 11q |
| TMPRSS6 | angiogenesis; proteolysis; intracellular signal transduction; extracellular matrix organization; fibrinolysis | 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 | blood coagulation; sequestering of actin monomers; regulation of cell migration; platelet activation; actin cytoskeleton organization; platelet degranulation | Xq21.3-q22 |
| TMSB4XP2 | - | 2p25.3 |
| TMSB4XP3 | - | - |
| TMSB4XP4 | - | 9q34.11 |
| TMSB4Y | actin cytoskeleton organization; sequestering of actin monomers; regulation of actin polymerization or depolymerization | Yq11.221 |
| TMTC1 | - | 12p11.22 |
| TMTC2 | - | 12q21.31 |
| TMTC3 | - | 12q21.32 |
| TMTC4 | - | 13q32.3 |
| TMUB1 | - | 7q36.1 |
| TMUB2 | - | 17q21.31 |
| TMX1 | leukocyte activation; response to stress; DNA replication; positive regulation of growth; positive regulation of transcription, DNA-dependent; cell redox homeostasis; signal transduction; cell proliferation; transport; ER to Golgi vesicle-mediated transport; anti-apoptosis; electron transport chain | 14q22.1 |
| TMX2 | cell redox homeostasis | 11cen-q22.3 |
| TMX3 | glycerol ether metabolic process; cell redox homeostasis | 18q22 |
| TMX4 | cell redox homeostasis; electron transport chain; transport | 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 | negative regulation of cell proliferation; positive regulation of chronic inflammatory response to antigenic stimulus; positive regulation of humoral immune response mediated by circulating immunoglobulin; skeletal muscle contraction; glucose metabolic process; 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; chronic inflammatory response to antigenic stimulus; induction of apoptosis by extracellular signals; induction of apoptosis via death domain receptors; response to mechanical stimulus; response to virus; response to salt stress; organ morphogenesis; negative regulation of gene expression; negative regulation of lipid storage; positive regulation of necrotic cell death; response to activity; cellular response to nicotine; positive regulation of NFAT protein import into nucleus; pos | 6p21.3 |
| TNFAIP1 | DNA replication; potassium ion transport; apoptotic process; immune response; embryo development; cell migration; protein ubiquitination; negative regulation of Rho protein signal transduction; stress fiber assembly; proteasomal ubiquitin-dependent protein catabolic process | 17q22-q23 |
| TNFAIP2 | angiogenesis; cell differentiation; multicellular organismal development | 14q32 |
| TNFAIP3 | negative regulation of interleukin-6 production; B-1 B cell homeostasis; response to molecule of bacterial origin; regulation of germinal center formation; proteolysis; anti-apoptosis; protein deubiquitination; negative regulation of protein ubiquitination; negative regulation of NF-kappaB transcription factor activity; negative regulation of type I interferon production; response to muramyl dipeptide; negative regulation of interleukin-1 beta production; negative regulation of interleukin-2 production; regulation of defense response to virus by host; cellular response to lipopolysaccharide; tolerance induction to lipopolysaccharide; negative regulation of osteoclast proliferation; protein K48-linked ubiquitination; protein K63-linked deubiquitination; negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway; negative regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway; nucleotide-binding oligomerization domain containing signaling path | 6q23 |
| TNFAIP6 | cell-cell signaling; inflammatory response; cell adhesion; signal transduction | 2q23.3 |
| TNFAIP8 | anti-apoptosis; negative regulation of anti-apoptosis; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 5q23.1 |
| TNFAIP8L1 | - | 19p13.3 |
| TNFAIP8L2 | innate immune response | 1q21.3 |
| TNFAIP8L3 | - | 15q21.2 |
| TNFRSF10A | induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; signal transduction; cellular response to mechanical stimulus; extrinsic apoptotic signaling pathway; activation of NF-kappaB-inducing kinase activity; induction of apoptosis via death domain receptors | 8p21 |
| TNFRSF10B | positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; activation of pro-apoptotic gene products; cellular response to mechanical stimulus; induction of apoptosis via death domain receptors; induction of apoptosis by extracellular signals; activation of NF-kappaB-inducing kinase activity; cell surface receptor signaling pathway; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process | 8p22-p21 |
| TNFRSF10C | apoptotic process; signal transduction | 8p22-p21 |
| TNFRSF10D | apoptotic process; anti-apoptosis; signal transduction | 8p21 |
| TNFRSF11A | ossification; response to lipopolysaccharide; adaptive immune response; monocyte chemotaxis; signal transduction; cell-cell signaling; positive regulation of cell proliferation; 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; response to interleukin-1; mammary gland alveolus development; circadian temperature homeostasis; positive regulation of NF-kappaB transcription factor activity; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of JUN kinase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; response to tumor necrosis factor; response to cytokine stimulus; tumor necrosis factor-mediated signaling pathway; lymph node development; osteoclast differentiation; multicellular organismal development | 18q22.1 |
| TNFRSF11B | apoptotic process; 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; skeletal system development | 8q24 |
| TNFRSF12A | cell death; positive regulation of axon extension; positive regulation of extrinsic apoptotic signaling pathway; cell differentiation; multicellular organismal development; cell adhesion; substrate-dependent cell migration, cell attachment to substrate; cellular component movement; induction of apoptosis; apoptotic process; angiogenesis | 16p13.3 |
| TNFRSF13B | negative regulation of B cell proliferation; cell surface receptor signaling pathway; B cell homeostasis | 17p11.2 |
| TNFRSF13C | positive regulation of interferon-gamma biosynthetic process; regulation of immune response; positive regulation of T cell proliferation; B cell costimulation; T cell costimulation; positive regulation of B cell proliferation; positive regulation of germinal center formation; B cell homeostasis | 22q13.1-q13.31 |
| TNFRSF14 | interspecies interaction between organisms; negative regulation of alpha-beta T cell proliferation; positive regulation of peptidyl-tyrosine phosphorylation; T cell costimulation; cell surface receptor signaling pathway; tumor necrosis factor-mediated signaling pathway; immune response | 1p36.32 |
| TNFRSF17 | multicellular organismal development; signal transduction; cell proliferation; tumor necrosis factor-mediated signaling pathway | 16p13.1 |
| TNFRSF18 | tumor necrosis factor-mediated signaling pathway; signal transduction; anti-apoptosis; apoptotic process | 1p36.3 |
| TNFRSF19 | apoptotic process; tumor necrosis factor-mediated signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; induction of apoptosis; hair follicle development; JNK cascade | 13q12.11-q12.3 |
| TNFRSF1A | tumor necrosis factor-mediated signaling pathway; positive regulation of tumor necrosis factor production; positive regulation of tyrosine phosphorylation of Stat1 protein; defense response to bacterium; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; response to amino acid stimulus; response to alkaloid; interspecies interaction between organisms; response to ethanol; positive regulation of angiogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of inflammatory response; cellular response to mechanical stimulus; cellular response to estradiol stimulus; tetrapyrrole metabolic process; 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; response to lipopol | 12p13.2 |
| TNFRSF1B | apoptotic process; cell surface receptor signaling pathway; cell death; RNA destabilization; negative regulation of inflammatory response; tumor necrosis factor-mediated signaling pathway | 1p36.22 |
| TNFRSF21 | neuron apoptosis; small molecule metabolic process; cellular lipid metabolic process; signal transduction | 6p21.1 |
| TNFRSF25 | apoptotic process; 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 | 1p36.2 |
| TNFRSF4 | negative regulation of T cell apoptosis; inflammatory response; positive regulation of immunoglobulin secretion; negative regulation of cytokine secretion; negative regulation of transcription, DNA-dependent; regulation of protein kinase activity; positive regulation of anti-apoptosis; negative regulation of sequence-specific DNA binding transcription factor activity; regulation of apoptotic process; T cell proliferation; tumor necrosis factor-mediated signaling pathway; positive regulation of B cell proliferation; cellular defense response; immune response | 1p36 |
| TNFRSF6B | anti-apoptosis; apoptotic process | 20q13.3 |
| TNFRSF8 | cellular response to mechanical stimulus; signal transduction; positive regulation of TRAIL biosynthetic process; tumor necrosis factor-mediated signaling pathway; negative regulation of cell proliferation; positive regulation of apoptotic process; positive regulation of tumor necrosis factor biosynthetic process; positive regulation of NF-kappaB transcription factor activity | 1p36 |
| TNFRSF9 | induction of apoptosis; negative regulation of cell proliferation | 1p36 |
| TNFSF10 | positive regulation of extrinsic apoptotic signaling pathway; positive regulation of release of cytochrome c from mitochondria; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; activation of pro-apoptotic gene products; induction of apoptosis by extracellular signals; cell-cell signaling; signal transduction; immune response; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; apoptotic process | 3q26 |
| TNFSF11 | positive regulation of I-kappaB kinase/NF-kappaB cascade; tumor necrosis factor-mediated signaling pathway; 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; positive regulation of NF-kappaB transcription factor activity; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of T cell activation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of MAP kinase activity; positive regulation of homotypic cell-cell adhesion; mammary gland epithelial cell proliferation; positive regulation of phosphorylation; positive regulation of bone resorption; positive regulati | 13q14 |
| TNFSF12 | positive regulation of extrinsic apoptotic signaling pathway; positive regulation of endothelial cell proliferation; apoptotic process; 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 | 17p13 |
| TNFSF13 | positive regulation of isotype switching to IgA isotypes; regulation of immune response; mRNA metabolic process; RNA metabolic process; immunoglobulin mediated immune response; gene expression; signal transduction; positive regulation of germinal center formation; immunoglobulin production in mucosal tissue; positive regulation of cell proliferation | 17p13.1 |
| TNFSF13B | positive regulation of germinal center formation; signal transduction; cell proliferation; regulation of immune response; immunoglobulin secretion; positive regulation of survival gene product expression; positive regulation of T cell proliferation; B cell homeostasis; positive regulation of B cell proliferation; B cell costimulation; T cell costimulation; positive regulation of cell proliferation | 13q32-q34 |
| TNFSF14 | T cell activation; release of cytoplasmic sequestered NF-kappaB; signal transduction; immune response; T cell costimulation; T cell proliferation; T cell homeostasis; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; cellular response to mechanical stimulus; induction of apoptosis | 19p13.3 |
| TNFSF15 | activation of NF-kappaB-inducing kinase activity; immune response; signal transduction; positive regulation of cytokine secretion; cytokine metabolic process; activation of cysteine-type endopeptidase activity involved in apoptotic process | 9q32 |
| TNFSF18 | regulation of T cell proliferation; T cell proliferation involved in immune response; anti-apoptosis; immune response; signal transduction; cell-cell signaling; tumor necrosis factor-mediated signaling pathway; positive regulation of NF-kappaB transcription factor activity | 1q23 |
| TNFSF4 | immune response; positive regulation of immunoglobulin mediated immune response; positive regulation of type 2 immune response; acute inflammatory response; positive regulation of CD4-positive, alpha-beta T cell differentiation; positive regulation of memory T cell differentiation; 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; cytokine production; defense response to nematode; response to chemical stimulus; positive regulation of T cell cytokine production; positive regulation of T cell costimulation; chemokine (C-C motif) ligand 11 production; cellular response to prostaglandin E stimulus; cellular response to lipopolysaccharide; positive regulation of immunoglobulin secretion; positive regulation | 1q25 |
| TNFSF8 | induction of apoptosis; immune response; signal transduction; cell-cell signaling; cell proliferation | 9q33 |
| TNFSF9 | immune response; apoptotic process; signal transduction; cell-cell signaling; cell proliferation; regulation of cell proliferation | 19p13.3 |
| TNIK | Wnt receptor signaling pathway; response to stress; cytoskeleton organization; intracellular protein kinase cascade; nervous system development; actin cytoskeleton reorganization; protein autophosphorylation; regulation of dendrite morphogenesis; protein phosphorylation; activation of JNKK activity | 3q26.31 |
| TNIP1 | translation; negative regulation of viral genome replication; glycoprotein biosynthetic process; defense response | 5q32-q33.1 |
| TNIP2 | I-kappaB kinase/NF-kappaB cascade | 4p16.3 |
| TNIP3 | - | 4q27 |
| TNK1 | signal transduction; protein phosphorylation; negative regulation of cell growth; negative regulation of Ras protein signal transduction; protein autophosphorylation | 17p13.1 |
| TNK2 | endocytosis; regulation of clathrin-mediated endocytosis; positive regulation of peptidyl-tyrosine phosphorylation; protein ubiquitination; phosphorylation; small GTPase mediated signal transduction; cell surface receptor signaling pathway | 3q29 |
| TNKS | regulation of telomere maintenance via telomerase; positive regulation of canonical Wnt receptor signaling pathway; protein auto-ADP-ribosylation; protein poly-ADP-ribosylation; protein localization to chromosome, telomeric region; spindle assembly; mRNA transport; negative regulation of DNA binding; positive regulation of telomere maintenance via telomerase; peptidyl-threonine phosphorylation; peptidyl-serine phosphorylation; Wnt receptor signaling pathway; protein transport; mitotic spindle organization; protein ADP-ribosylation; protein polyubiquitination | 8p23.1 |
| TNKS1BP1 | mRNA metabolic process; RNA metabolic process; gene expression; telomere maintenance via telomerase; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 11q12.1 |
| TNKS2 | Wnt receptor signaling pathway; positive regulation of telomere maintenance via telomerase; protein localization to chromosome, telomeric region; protein ADP-ribosylation; protein polyubiquitination; regulation of multicellular organism growth; positive regulation of canonical Wnt receptor signaling pathway; protein auto-ADP-ribosylation | 10q23.3 |
| TNKS2-AS1 | - | - |
| TNMD | endothelial cell morphogenesis; negative regulation of endothelial cell proliferation; negative regulation of angiogenesis | Xq21.33-q23 |
| TNN | cell-matrix adhesion; cell migration; signal transduction; cell growth; axonogenesis | 1q23-q24 |
| TNNC1 | cardiac muscle contraction; ventricular cardiac muscle tissue morphogenesis; 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 | positive regulation of transcription, DNA-dependent; skeletal muscle contraction; muscle filament sliding | 11p15.5 |
| TNNI3 | muscle filament sliding; negative regulation of ATPase activity; ventricular cardiac muscle tissue morphogenesis; heart contraction; cardiac muscle contraction; heart development; regulation of smooth muscle contraction; cellular calcium ion homeostasis; regulation of systemic arterial blood pressure by ischemic conditions; vasculogenesis | 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 | skeletal muscle contraction; regulation of striated muscle contraction; muscle filament sliding; regulation of ATPase activity | 11p15.5 |
| TNP1 | sperm motility; single strand break repair; nucleosome disassembly; chromatin remodeling; chromatin silencing; multicellular organismal development; spermatogenesis; spermatid development; spermatid nucleus differentiation; spermatid nucleus elongation; sexual reproduction; negative regulation of transcription, DNA-dependent; fertilization, exchange of chromosomal proteins; cell differentiation | 2q35-q36 |
| TNP2 | spermatogenesis; sperm motility; cell differentiation; penetration of zona pellucida; acrosome reaction; binding of sperm to zona pellucida; multicellular organismal development | 16p13.13 |
| TNPO1 | mRNA metabolic process; interspecies interaction between organisms; 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 | negative regulation of cell-cell adhesion; signal transduction; 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; neuron cell-cell adhesion; cell adhesion; synapse organization; neuromuscular process controlling balance; long-term synaptic potentiation; positive regulation of transmission of nerve impulse; positive regulation of synaptic transmission, glutamatergic | 1q24 |
| TNRC18 | - | 7p22.1 |
| TNRC18P1 | - | 4q31.21 |
| TNRC18P3 | - | 7p11.2 |
| TNRC6A | gene silencing by RNA; negative regulation of translation involved in gene silencing by miRNA; cellular response to starvation; regulation of translation | 16p11.2 |
| TNRC6B | gene silencing by RNA; regulation of translation | 22q13.1 |
| TNRC6C | gene silencing by RNA; regulation of translation | 17q25.3 |
| TNRC6C-AS1 | - | 17q25.3 |
| TNS1 | fibroblast migration; cell-substrate junction assembly | 2q35-q36 |
| TNS2 | negative regulation of cell proliferation; intracellular signal transduction | 12q13.13 |
| TNS3 | intracellular signal transduction; positive regulation of cell proliferation; cell migration; lung alveolus development | 7p12.3 |
| TNS4 | apoptotic process; protein localization | 17q21.2 |
| TNXA | - | 6p21.3 |
| TNXB | elastic fiber assembly; collagen metabolic process; actin cytoskeleton organization; signal transduction; cell adhesion | 6p21.3 |
| TOB1 | negative regulation of cell proliferation | 17q21 |
| TOB1-AS1 | - | 17q21.33 |
| TOB2 | regulation of gene expression; female gamete generation; negative regulation of cell proliferation; negative regulation of osteoclast differentiation; positive regulation of ossification | 22q13.2 |
| TOB2P1 | - | 6p22.1 |
| TOE1 | - | 1p33 |
| TOLLIP | leukocyte activation; phosphorylation; inflammatory response; signal transduction; intracellular signal transduction; innate immune response; cell-cell signaling | 11p15.5 |
| TOM1 | intracellular protein transport; endocytosis; endosome transport; protein transport | 22q13.1 |
| TOM1L1 | intracellular protein transport; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; positive regulation of catalytic activity | 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 | protein targeting to mitochondrion; intracellular protein transport | 7p15.3 |
| TOMM70A | protein targeting to mitochondrion | 3q12.2 |
| TONSL | double-strand break repair via homologous recombination; DNA repair; replication fork processing; cytoplasmic sequestering of transcription factor | 8q24.3 |
| TOP1 | DNA replication; DNA topological change; programmed cell death; phosphorylation; interspecies interaction between organisms; response to drug; embryonic cleavage | 20q12-q13.1 |
| TOP1MT | DNA topological change | 8q24.3 |
| TOP1P2 | - | 22q11.23 |
| TOP2A | positive regulation of retroviral genome replication; response to drug; positive regulation of apoptotic process; positive regulation of viral genome replication; chromosome segregation; phosphatidylinositol-mediated signaling; mitotic cell cycle G2/M transition decatenation checkpoint; response to parathyroid hormone stimulus; DNA repair; apoptotic chromosome condensation; aging; response to DNA damage stimulus; mitotic cell cycle; resolution of meiotic recombination intermediates; sister chromatid segregation; DNA replication; DNA-dependent DNA replication; DNA topological change; DNA ligation; mitotic recombination | 17q21-q22 |
| TOP2B | mitotic cell cycle G2/M transition decatenation checkpoint; mitotic recombination; DNA topological change; DNA-dependent DNA replication; sister chromatid segregation; resolution of meiotic recombination intermediates | 3p24 |
| TOP3A | meiosis; DNA topological change | 17p12-p11.2 |
| TOP3B | DNA topological change; chromosome segregation | 22q11.22 |
| TOPAZ1 | - | 3p21.31 |
| TOPBP1 | DNA metabolic process; DNA repair; response to DNA damage stimulus; response to ionizing radiation | 3q22.1 |
| TOPORS | protein ubiquitination; DNA damage response, signal transduction resulting in induction of apoptosis; regulation of cell proliferation; ubiquitin-dependent protein catabolic process; transcription, DNA-dependent; proteasomal ubiquitin-dependent protein catabolic process; response to DNA damage stimulus; apoptotic process; positive regulation of transcription, DNA-dependent; maintenance of protein location in nucleus; protein sumoylation; protein localization to nucleus | 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 | chaperone mediated protein folding requiring cofactor; response to unfolded protein | 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 | positive regulation of transcription, DNA-dependent; negative regulation of neuron apoptosis; positive regulation of anti-apoptosis; apoptotic process | 16q12.1 |
| TOX4 | - | 14q11.2 |
| TOX4P1 | - | 4q25 |
| TP53 | protein complex assembly; multicellular organismal development; apoptotic process; response to DNA damage stimulus; 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; ER overload response; cell cycle arrest; Ras protein signal transduction; gastrulation; 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; response to X-ray; cellular response to drug; multicellular organism growth; cellular response to UV; cellular protein localization; T cell differentiation in thymus; positive regulation of protein oligomerization; mitotic cell cycle G1/S transition DNA damage checkpoint; positive regulation of histone deacetylation; negative regulation | 17p13.1 |
| TP53AIP1 | apoptotic process | 11q24 |
| TP53BP1 | positive regulation of transcription, DNA-dependent; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; double-strand break repair; DNA repair; double-strand break repair via homologous recombination | 15q15-q21 |
| TP53BP2 | apoptotic process; induction of apoptosis; signal transduction; central nervous system development; heart development; embryo development ending in birth or egg hatching; 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 | induction of apoptosis by oxidative stress; NADP metabolic process | 2p23.3 |
| TP53INP1 | apoptotic process; induction of apoptosis; response to stress; cell cycle arrest | 8q22 |
| TP53INP2 | - | 20q11.22 |
| TP53RK | protein phosphorylation; lipopolysaccharide biosynthetic process | 20q13.2 |
| TP53TG1 | response to DNA damage stimulus; response to stress | 7q21.1 |
| TP53TG3C | - | 16p11.2 |
| TP53TG3D | - | 16p11.2 |
| TP63 | ectoderm and mesoderm interaction; hair follicle morphogenesis; polarized epithelial cell differentiation; prostate gland development; embryonic limb morphogenesis; response to gamma radiation; multicellular organismal aging; response to X-ray; proximal/distal pattern formation; organ morphogenesis; cell aging; mitotic cell cycle G1/S transition DNA damage checkpoint; pattern specification process; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; induction of apoptosis; anti-apoptosis; apoptotic process; epithelial cell development; positive regulation of mesenchymal cell proliferation; establishment of planar polarity; skeletal system development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; prostatic bud formation; cloacal septation; urinary bladder development; protein homotetramerization; female genitalia morphogenesis; smooth muscle tissue development; anatomical s | 3q28 |
| TP73 | positive regulation of cell size; 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; activation of MAPK activity; 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; negative regulation of transcription from RNA polymerase II promoter; hippocampus development; kidney development; release of cytochrome c from mitochondria; mismatch repair; regulation of transcription, DNA-dependent; inflammatory response; response to DNA damage stimulus; DNA damage response, signal transduction by | 1p36.3 |
| TP73-AS1 | - | 1p36.32 |
| TPBG | cell adhesion | 6q14-q15 |
| TPBGL | - | 11q13.4 |
| TPCN1 | transmembrane transport; ion transport | 12q24.13 |
| TPCN2 | transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; ion transport; cellular calcium ion homeostasis; smooth muscle contraction; release of sequestered calcium ion into cytosol | 11q13.3 |
| TPD52 | secretion; B cell differentiation; 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 | spermatogenesis; adult behavior; cell differentiation; sperm axoneme assembly; multicellular organismal development | 19p13.3 |
| TPGS2 | - | 18q12.2 |
| TPH1 | serotonin biosynthetic process; mammary gland alveolus development; bone remodeling; indolalkylamine biosynthetic process; small molecule metabolic process; response to stress; aromatic amino acid family metabolic process; cellular nitrogen compound metabolic process | 11p15.3-p14 |
| TPH2 | aromatic amino acid family metabolic process; circadian rhythm; response to stress; response to activity; response to nutrient levels; cellular nitrogen compound metabolic process; serotonin biosynthetic process; response to estrogen stimulus; small molecule metabolic process; indolalkylamine biosynthetic process; response to glucocorticoid stimulus; response to calcium ion; cellular response to lithium ion | 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; water-soluble vitamin metabolic process; thiamine metabolic process; thiamine diphosphate biosynthetic process; thiamine-containing compound metabolic process; small molecule metabolic process | 7q34-q35 |
| TPM1 | cardiac muscle contraction; ventricular cardiac muscle tissue morphogenesis; positive regulation of stress fiber assembly; positive regulation of cell adhesion; sarcomere organization; wound healing; cellular response to reactive oxygen species; positive regulation of ATPase activity; negative regulation of cell migration; muscle filament sliding; regulation of heart contraction; cytoskeleton organization; regulation of muscle contraction; muscle contraction; cellular component movement; positive regulation of heart rate by epinephrine; ruffle organization | 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 | nucleobase-containing compound metabolic process; xenobiotic metabolic process; methylation; small molecule metabolic process | 6p22.3 |
| TPMTP1 | - | 18q21.1 |
| TPO | hydrogen peroxide catabolic process; small molecule metabolic process; hormone biosynthetic process; cellular nitrogen compound metabolic process; response to oxidative stress; embryonic hemopoiesis; thyroid hormone generation | 2p25 |
| TPP1 | nervous system development; lipid metabolic process; activation of signaling protein activity involved in unfolded protein response; lysosome organization; proteolysis; protein catabolic process; cell death; endoplasmic reticulum unfolded protein response; peptide catabolic process; bone resorption; neuromuscular process controlling balance | 11p15 |
| TPP2 | protein polyubiquitination; antigen processing and presentation of peptide antigen via MHC class I; proteolysis | 13q32-q33 |
| TPPP | microtubule bundle formation; positive regulation of protein complex assembly; positive regulation of protein polymerization; microtubule polymerization | 5p15.3 |
| TPPP2 | - | 14q11.2 |
| TPPP3 | microtubule bundle formation | 16q22.1 |
| TPR | glucose transport; mitotic cell cycle spindle assembly checkpoint; protein import into nucleus; seryl-tRNA aminoacylation; 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 | 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 | calcium ion transport; cellular calcium ion homeostasis; anti-apoptosis; response to virus; stem cell maintenance; regulation of apoptotic process; negative regulation of ectoderm development | 13q14 |
| TPT1-AS1 | - | 13q14.13 |
| TPT1P1 | - | 21q22.11 |
| TPTE | transmembrane transport; protein dephosphorylation; ion transport; signal transduction; peptidyl-tyrosine dephosphorylation | 21p11 |
| TPTE2 | transmembrane transport; ion transport | 13q12.11 |
| TPTE2P1 | - | 13q12.13 |
| TPTE2P4 | - | Yq11.23 |
| TPTE2P5 | - | 13q14.11 |
| TPTE2P6 | - | 13q12.12 |
| TPTEP1 | - | 22q11.1 |
| TPX2 | apoptotic process; cell cycle; mitosis; cell proliferation; activation of protein kinase activity; cell division; regulation of mitotic spindle organization | 20q11.2 |
| TRA2A | RNA splicing; nuclear mRNA splicing, via spliceosome | 7p15.3 |
| TRA2B | nuclear mRNA splicing, via spliceosome; positive regulation of nuclear mRNA splicing, via spliceosome; response to reactive oxygen species; RNA splicing, via transesterification reactions; regulation of alternative nuclear mRNA splicing, via spliceosome | 3q26.2-q27 |
| TRABD | - | 22q13.33 |
| TRABD2A | - | 2p11.2 |
| TRABD2B | - | 1p33 |
| TRAC | T cell receptor signaling pathway; T cell costimulation; cellular defense response; regulation of immune response | 14q11 |
| TRADD | apoptotic process; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; signal transduction; 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 | 16q22 |
| TRAF1 | positive regulation of NF-kappaB transcription factor activity; protein complex assembly; signal transduction; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade | 9q33-q34 |
| TRAF2 | regulation of apoptotic process; activation of pro-apoptotic gene products; activation of cysteine-type endopeptidase activity involved in apoptotic process; signal transduction; activation of NF-kappaB-inducing kinase activity; positive regulation of extrinsic apoptotic signaling pathway; protein K63-linked ubiquitination; protein homotrimerization; protein autoubiquitination; positive regulation of NF-kappaB transcription factor activity; positive regulation of sequence-specific DNA binding transcription factor activity; induction of apoptosis by extracellular signals; positive regulation of T cell activation; innate immune response; cellular protein complex assembly; positive regulation of JUN kinase activity; positive regulation of interleukin-2 production; tumor necrosis factor-mediated signaling pathway; apoptotic process; protein complex assembly; positive regulation of T cell cytokine production | 9q34 |
| TRAF3 | regulation of defense response to virus; regulation of interferon-beta production; regulation of cytokine production; toll-like receptor signaling pathway; induction of apoptosis; signal transduction; regulation of proteolysis; negative regulation of NF-kappaB transcription factor activity; innate immune response; regulation of apoptotic process; tumor necrosis factor-mediated signaling pathway; negative regulation of type I interferon production | 14q32.32 |
| TRAF3IP1 | - | 2q37.3 |
| TRAF3IP2 | intracellular signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 6q21 |
| TRAF3IP2-AS1 | - | 6q21 |
| TRAF3IP3 | - | 1q32 |
| TRAF4 | regulation of apoptotic process; respiratory tube development; positive regulation of JNK cascade; positive regulation of protein kinase activity; signal transduction; multicellular organismal development; positive regulation of protein homodimerization activity; respiratory gaseous exchange | 17q11-q12 |
| TRAF5 | signal transduction; 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; regulation of apoptotic process; positive regulation of cell proliferation | 1q32 |
| TRAF6 | positive regulation of T cell cytokine production; positive regulation of transcription from RNA polymerase II promoter; positive regulation of interleukin-2 production; 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; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of JUN kinase activity; innate immune response; positive regulation of osteoclast differentiation; negative regulation of transcription, DNA-dependent; toll-like receptor 1 signaling pathway; nerve growth factor receptor signaling pathway; T cell receptor signaling pathway; positive regulation of T cell activation; positive regulation of transcription regulatory region DNA binding; response to interleukin-1; protein K63-linked ubiquitination; nucleotide-binding oligomerization do | 11p12 |
| TRAF7 | regulation of transcription, DNA-dependent; activation of MAPKKK activity; apoptotic process; positive regulation of MAPK cascade; regulation of apoptotic process; protein ubiquitination | 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 | endosome to lysosome transport; regulation of transcription from RNA polymerase II promoter; protein O-linked glycosylation; protein targeting | 3p22.1 |
| TRAK2 | transport; protein O-linked glycosylation; protein targeting; regulation of transcription from RNA polymerase II promoter | 2q33 |
| TRAM1 | translation; SRP-dependent cotranslational protein targeting to membrane; cotranslational protein targeting to membrane; cellular protein metabolic process; protein transport; gene expression | 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 | vesicle-mediated transport; ER to Golgi vesicle-mediated transport | 1p34.3 |
| TRAPPC3L | - | 6q22.1 |
| TRAPPC4 | ER to Golgi vesicle-mediated transport; vesicle-mediated transport; dendrite development | 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 | positive regulation of T cell receptor signaling pathway; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; positive regulation of calcium-mediated signaling; cellular defense response; T cell receptor signaling pathway; negative regulation of receptor recycling; negative regulation of transport | 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 | regulation of immune response; T cell receptor signaling pathway; T cell costimulation; immune response | 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 | tRNA processing; C-5 methylation of cytosine; DNA methylation; response to amphetamine | 10p15.1 |
| TRDN | muscle contraction | 6q22.31 |
| TRDV1 | - | 14q11 |
| TREH | small molecule metabolic process; carbohydrate metabolic process; trehalose metabolic process; trehalose catabolic process; polysaccharide digestion | 11q23.3 |
| TREM1 | humoral immune response; blood coagulation; intracellular signal transduction; leukocyte migration | 6p21.1 |
| TREM2 | humoral immune response; axon guidance | 6p21.1 |
| TREML2 | T cell activation | 6p21.1 |
| TREML3P | - | 6p21.1 |
| TREML4 | - | 6p21.1 |
| TREML5P | - | 6p21.1 |
| TRERF1 | cholesterol catabolic process; regulation of hormone biosynthetic process; positive regulation of transcription, DNA-dependent; homeostatic process; multicellular organismal development; 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 | proteolysis; signal transduction; cell-cell signaling | 12q15-q21 |
| TRHDE-AS1 | - | 12q21.1 |
| TRHR | G-protein coupled receptor signaling pathway | 8q23 |
| TRIAP1 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; DNA damage response, signal transduction by p53 class mediator; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; anti-apoptosis | 12q24.31 |
| TRIAP1P1 | - | 10p12.1 |
| TRIB1 | negative regulation of smooth muscle cell migration; protein phosphorylation; negative regulation of protein kinase activity; JNK cascade; 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; response to lipopolysaccharide | 8q24.13 |
| TRIB2 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of protein kinase activity; regulation of MAP kinase activity; protein phosphorylation; negative regulation of interleukin-10 biosynthetic process; negative regulation of fat cell differentiation | 2p24.3 |
| TRIB3 | negative regulation of fatty acid biosynthetic process; regulation of transcription, DNA-dependent; apoptotic process; positive regulation of ubiquitin-protein ligase activity; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; negative regulation of fat cell differentiation; small molecule metabolic process; cellular lipid metabolic process; negative regulation of protein kinase activity; response to stress; epidermal growth factor receptor signaling pathway; insulin receptor signaling pathway; regulation of MAP kinase activity; cellular response to insulin stimulus; positive regulation of protein binding; regulation of glucose transport | 20p13-p12.2 |
| TRIL | regulation of cytokine production involved in immune response; inflammatory response; toll-like receptor 4 signaling pathway; innate immune response | 7p14.3 |
| TRIM10 | erythrocyte differentiation | 6p21.3 |
| TRIM11 | response to virus | 1q42.13 |
| TRIM13 | signal transduction; anatomical structure morphogenesis; ER-associated protein catabolic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; proteasomal ubiquitin-dependent protein catabolic process; protein autoubiquitination | 13q14 |
| TRIM14 | - | 9q22.33 |
| TRIM15 | mesodermal cell fate determination | 6p21.3 |
| TRIM16 | response to organophosphorus; positive regulation of retinoic acid receptor signaling pathway; positive regulation of interleukin-1 beta secretion; response to growth hormone stimulus; positive regulation of keratinocyte differentiation; histone H4 acetylation; histone H3 acetylation; response to retinoic acid; positive regulation of transcription, DNA-dependent | 17p11.2 |
| TRIM17 | protein autoubiquitination | 1q42 |
| TRIM2 | neuroprotection; protein ubiquitination | 4q31.3 |
| TRIM21 | protein destabilization; negative regulation of protein deubiquitination; protein trimerization; protein autoubiquitination; positive regulation of cell cycle; negative regulation of NF-kappaB transcription factor activity; protein monoubiquitination; protein polyubiquitination; protein ubiquitination | 11p15.5 |
| TRIM22 | interspecies interaction between organisms; regulation of transcription, DNA-dependent; immune response; response to virus; protein trimerization | 11p15 |
| TRIM23 | protein ADP-ribosylation; GTP catabolic process; small GTPase mediated signal transduction; protein ubiquitination; interspecies interaction between organisms; positive regulation of catalytic activity | 5q12.3 |
| TRIM24 | regulation of protein stability; transcription from RNA polymerase II promoter; negative regulation of cell proliferation; protein ubiquitination; protein catabolic process; 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 | 7q32-q34 |
| TRIM25 | regulation of transcription, DNA-dependent; response to virus; negative regulation of type I interferon production; interspecies interaction between organisms; innate immune response | 17q23.2 |
| TRIM26 | - | 6p21.3 |
| TRIM27 | negative regulation of gene expression, epigenetic; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; spermatogenesis; cell proliferation; protein trimerization | 6p22 |
| TRIM28 | protein oligomerization; protein autophosphorylation; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; epithelial to mesenchymal transition; DNA repair; gene expression; protein ubiquitination; positive regulation of DNA repair; protein sumoylation | 19q13.4 |
| TRIM29 | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 11q23.3 |
| TRIM3 | nervous system development; protein transport | 11p15.5 |
| TRIM31 | - | 6p21.3 |
| TRIM32 | positive regulation of neurogenesis; positive regulation of cell cycle; positive regulation of cell migration; positive regulation of protein catabolic process; response to tumor necrosis factor; positive regulation of neuron differentiation; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; positive regulation of cell motility; positive regulation of NF-kappaB transcription factor activity; fat cell differentiation; negative regulation of fibroblast proliferation; negative regulation of apoptotic process; positive regulation of cell growth; protein ubiquitination; response to UV; protein polyubiquitination; innate immune response; positive regulation of proteolysis | 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 | positive regulation of apoptotic process; induction of apoptosis; negative regulation of cell proliferation; negative regulation of mitotic cell cycle | 8p21.2 |
| TRIM36 | acrosome reaction | 5q22.3 |
| TRIM37 | - | 17q23.2 |
| TRIM38 | positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction | 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 | interspecies interaction between organisms; response to virus; 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 | signal transduction; microtubule-based process; multicellular organismal development; cell differentiation; negative regulation of microtubule depolymerization | 2p23.3 |
| TRIM55 | signal transduction | 8q13.1 |
| TRIM56 | defense response to virus; response to type I interferon; interferon-beta production; 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 | multicellular organismal development; cellular response to organic substance | 3p22.3 |
| TRIM72 | transport; protein homooligomerization; muscle organ development; exocytosis; muscle system process; plasma membrane repair | 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 | nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; induction of apoptosis by extracellular signals; regulation of small GTPase mediated signal transduction; apoptotic process; transmembrane receptor protein tyrosine phosphatase signaling pathway; axon guidance; small GTPase mediated signal transduction | 5p15.2 |
| TRIOBP | barbed-end actin filament capping; actin modification | 22q13.1 |
| TRIP10 | endocytosis; cell communication; signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; actin cytoskeleton organization | 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 | synaptonemal complex assembly; pachytene; oogenesis; reciprocal meiotic recombination; transcription from RNA polymerase II promoter; meiosis; female meiosis I; male meiosis I; double-strand break repair; spermatogenesis; spermatid development; cell differentiation; oocyte maturation | 5p15.33 |
| TRIP4 | positive regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 15q22.31 |
| TRIP6 | focal adhesion assembly; positive regulation of cell migration; regulation of transcription, DNA-dependent; cell adhesion; release of cytoplasmic sequestered NF-kappaB | 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 | tRNA processing; behavior | 1q25.2 |
| TRMT2A | RNA processing | 22q11.21 |
| TRMT2B | tRNA processing | Xq22.1 |
| TRMT44 | - | 4p16.1 |
| TRMT5 | tRNA processing | 14q23.1 |
| TRMT6 | regulation of translational initiation; tRNA processing | 20p12.3 |
| TRMT61A | tRNA methylation; tRNA processing | 14q32 |
| TRMT61B | tRNA methylation; tRNA processing | 2p23.2 |
| TRMU | tRNA metabolic process; tRNA processing | 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; protein targeting to mitochondrion; RNA processing | 3p25.1 |
| TRNV | - | - |
| TRNW | - | - |
| TRNY | - | - |
| TRO | negative regulation of cell growth; cell adhesion; homophilic cell adhesion; embryo implantation | Xp11.22-p11.21 |
| TROAP | cell adhesion | 12q13.12 |
| TROVE2 | transcription from RNA polymerase III promoter | 1q31 |
| TRPA1 | response to drug; response to cold; ion transport; response to hydrogen peroxide; response to pain; response to stimulus; thermoception; detection of mechanical stimulus involved in sensory perception of pain; detection of chemical stimulus involved in sensory perception of pain | 8q13 |
| TRPC1 | ion transport; calcium ion transport; axon guidance; positive regulation of release of sequestered calcium ion into cytosol; cytosolic calcium ion homeostasis; calcium ion transmembrane transport; transmembrane transport; response to calcium ion | 3q23 |
| TRPC2 | - | 11p15.4-p15.3 |
| TRPC3 | calcium ion transport; axon guidance; blood coagulation; phototransduction; calcium ion transmembrane transport; transmembrane transport; ion transport; platelet activation | 4q27 |
| TRPC4 | transmembrane transport; axon guidance; calcium ion transport; ion transport; calcium ion import | 13q13.3 |
| TRPC4AP | ubiquitin-dependent protein catabolic process; protein ubiquitination | 20q11.22 |
| TRPC5 | ion transport; nervous system development; axon guidance; transmembrane transport; calcium ion transport; calcium ion transmembrane transport | Xq23 |
| TRPC5OS | - | - |
| TRPC6 | axon guidance; cation transport; elevation of cytosolic calcium ion concentration; blood coagulation; platelet activation; positive regulation of ion transmembrane transporter activity; positive regulation of calcium ion transport via store-operated calcium channel activity | 11q22.1 |
| TRPC6P | - | Xq28;Yq12 |
| TRPC7 | transmembrane transport; platelet activation; blood coagulation; axon guidance; manganese ion transport; ion transport | 5q31.1 |
| TRPM1 | calcium ion transmembrane transport; transport; ion transport; visual perception; response to stimulus; transmembrane transport; cellular response to light stimulus | 15q13.3 |
| TRPM2 | transmembrane transport; calcium ion transmembrane transport; response to hydroperoxide; calcium ion transport; ion transport | 21q22.3 |
| TRPM2-AS | - | - |
| TRPM3 | cation transport; transmembrane transport | 9q21.12 |
| TRPM4 | protein sumoylation; positive regulation of cell proliferation; ion transport; regulation of T cell cytokine production; transmembrane transport; positive regulation of canonical Wnt receptor signaling pathway; dendritic cell chemotaxis | 19q13.33 |
| TRPM5 | ion transport | 11p15.5 |
| TRPM6 | protein phosphorylation; ion transport; response to toxin; metal ion transport; transmembrane transport | 9q21.13 |
| TRPM7 | calcium-dependent cell-matrix adhesion; transmembrane transport; actomyosin structure organization; protein autophosphorylation; cell death; ion transport | 15q21 |
| TRPM8 | transmembrane transport; response to stimulus; protein homotetramerization; thermoception; ion transport; cellular calcium ion homeostasis; response to cold; protein homotrimerization | 2q37.1 |
| TRPS1 | regulation of chondrocyte differentiation; NLS-bearing substrate import into nucleus; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; skeletal system development; negative regulation of transcription from RNA polymerase II promoter | 8q24.12 |
| TRPT1 | tRNA splicing, via endonucleolytic cleavage and ligation | 11q13.1 |
| TRPV1 | diet induced thermogenesis; peptide secretion; lipid metabolic process; transport; microglial cell activation; fever generation; temperature homeostasis; behavioral response to pain; cell surface receptor signaling pathway; elevation of cytosolic calcium ion concentration; chemosensory behavior; response to pH; response to heat; glutamate secretion; catagen; positive regulation of apoptotic process; positive regulation of nitric oxide biosynthetic process; negative regulation of establishment of blood-brain barrier; cellular response to temperature stimulus; cellular response to growth factor stimulus; calcium ion transmembrane transport; positive regulation of gastric acid secretion; smooth muscle contraction involved in micturition; detection of chemical stimulus involved in sensory perception of pain; thermoception; sensory perception of mechanical stimulus; response to peptide hormone stimulus | 17p13.2 |
| TRPV2 | ion transmembrane transport; sensory perception; positive regulation of calcium ion import; transport; positive regulation of axon extension; response to temperature stimulus; response to heat | 17p11.2 |
| TRPV3 | response to temperature stimulus; cation transport | 17p13.2 |
| TRPV4 | actin filament organization; calcium ion import; calcium ion transport; ion transport; osmosensory signaling pathway; calcium ion transmembrane transport; response to mechanical stimulus; negative regulation of neuron projection development; cellular hypotonic response; positive regulation of microtubule depolymerization; actin cytoskeleton reorganization; cell death; transmembrane transport; elevation of cytosolic calcium ion concentration; cellular calcium ion homeostasis; cell volume homeostasis; cell-cell junction assembly; cortical microtubule organization; microtubule polymerization | 12q24.1 |
| TRPV5 | calcium ion transmembrane transport; protein tetramerization; transmembrane transport; calcium ion transport; ion transport | 7q35 |
| TRPV6 | calcium ion transport; regulation of calcium ion-dependent exocytosis; calcium ion transmembrane transport; ion transport; transmembrane transport | 7q34 |
| TRRAP | histone H2A acetylation; regulation of transcription, DNA-dependent; chromatin modification; histone acetylation; histone deubiquitination; histone H4 acetylation | 7q21.2-q22.1 |
| TRUB1 | tRNA processing; RNA processing; pseudouridine synthesis | 10q25.3 |
| TRUB2 | pseudouridine synthesis; RNA processing; tRNA processing | 9q34.11 |
| TSACC | - | 1q22 |
| TSC1 | negative regulation of translation; cell-matrix adhesion; nervous system development; negative regulation of cell proliferation; cell cycle arrest; potassium ion transport; regulation of translation; activation of Rho GTPase activity; insulin receptor signaling pathway; embryo development; regulation of cell-matrix adhesion; hippocampus development; cerebral cortex development; cell projection organization; negative regulation of TOR signaling cascade; rRNA export from nucleus; response to insulin stimulus; kidney development; neural tube closure; regulation of actin cytoskeleton organization; 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; myelination | 9q34 |
| TSC2 | insulin receptor signaling pathway; protein kinase B signaling cascade; negative regulation of MAP kinase activity; negative regulation of TOR signaling cascade; positive regulation of GTPase activity; 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; nerve growth factor receptor signaling pathway; establishment of protein localization; negative regulation of cell size; regulation of insulin receptor signaling pathway; insulin-like growth factor receptor signaling pathway; negative regulation of protein kinase B signaling cascade; regulation of cell cycle; protein heterooligomerization; protein homooligomerization; regulation of small GTPase mediated signal transduction; positive chemotaxis; negative regulation of epithelial cell proliferation; phosphatidylinositol-mediated signaling; protein localization; n | 16p13.3 |
| TSC22D1 | transcription from RNA polymerase II promoter; positive regulation of cell proliferation; positive regulation of apoptotic process; negative 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 | response to osmotic stress; negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 7p21-p15 |
| TSEN15 | tRNA processing; mRNA processing | 1q25 |
| TSEN15P1 | - | 17p11.2 |
| TSEN2 | tRNA splicing, via endonucleolytic cleavage and ligation; mRNA processing | 3p25.2 |
| TSEN34 | tRNA-type intron splice site recognition and cleavage; mRNA processing | 19q13.4 |
| TSEN54 | mRNA processing; tRNA splicing, via endonucleolytic cleavage and ligation | 17q25.1 |
| TSFM | translational elongation; regulation of transcription elongation, DNA-dependent | 12q14.1 |
| TSG1 | - | 6q16.1 |
| TSG101 | endosome transport; cell differentiation; keratinocyte differentiation; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; interspecies interaction between organisms; negative regulation of transcription, DNA-dependent; non-lytic virus budding; egress of virus within host cell; cell division; endosome to lysosome transport; viral reproduction; protein transport; cellular membrane organization; negative regulation of cell proliferation; cell cycle arrest; cell cycle; protein monoubiquitination; protein modification process; regulation of cell growth | 11p15 |
| TSGA10 | cell projection assembly; spermatogenesis | 2q11.2 |
| TSGA10IP | - | 11q13.1 |
| TSGA13 | - | 7q32 |
| TSHR | cell-cell signaling; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor signaling pathway; positive regulation of multicellular organism growth; regulation of locomotion; B cell differentiation; adult locomotory behavior; positive regulation of cell proliferation; activation of adenylate cyclase activity by G-protein signaling pathway | 14q31 |
| TSHZ1 | soft palate development; middle ear morphogenesis; 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 | multicellular organismal development; cell differentiation; spermatogenesis | 16q22.1 |
| TSPAN1 | - | 1p34.1 |
| TSPAN10 | - | 17q25.3 |
| TSPAN11 | - | 12p11.21 |
| TSPAN12 | retina layer formation; regulation of angiogenesis; cell surface receptor signaling pathway | 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 | negative regulation of blood coagulation; signal transduction; protein glycosylation | 12q14.1-q21.1 |
| TSPAN9 | - | 12p13.33-p13.32 |
| TSPEAR | cell adhesion | 21q22.3 |
| TSPEAR-AS1 | - | 21q22.3 |
| TSPEAR-AS2 | - | 21q22.3 |
| TSPO | aging; response to axon injury; positive regulation of necrotic cell death; peripheral nervous system axon regeneration; adrenal gland development; regulation of cholesterol transport; positive regulation of calcium ion transport; positive regulation of mitochondrial depolarization; protein targeting to mitochondrion; regulation of steroid biosynthetic process; response to vitamin B1; 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 manganese ion; 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 | 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 | activation of signaling protein activity involved in unfolded protein response; regulation of protein kinase activity; regulation of transcription, DNA-dependent; negative regulation of DNA replication; nucleosome assembly; regulation of signal transduction; chromatin modification; negative regulation of cell growth; endoplasmic reticulum unfolded protein response; negative regulation of cell cycle | Xp11.2 |
| TSPYL4 | nucleosome assembly | 6q22.1 |
| TSPYL5 | positive regulation of protein ubiquitination; regulation of growth; nucleosome assembly; positive regulation of protein kinase B signaling cascade; positive regulation of cell proliferation; 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 | cell differentiation; spermatid development; spermatogenesis; protein phosphorylation; multicellular organismal development | 5q22.2 |
| TSSK3 | protein phosphorylation; cell differentiation; multicellular organismal development; spermatogenesis | 1p35-p34 |
| TSSK4 | multicellular organismal development; protein phosphorylation; positive regulation of CREB transcription factor activity; cell differentiation; spermatogenesis | 14q12 |
| TSSK5P1 | - | 8q24.3 |
| TSSK6 | protein phosphorylation; multicellular organismal development; spermatogenesis; cell differentiation; sperm chromatin condensation | 19p13.11 |
| TST | rRNA transport; sulfide oxidation, using sulfide:quinone oxidoreductase; small molecule metabolic process; rRNA import into mitochondrion; cellular nitrogen compound metabolic process; cyanate catabolic process; sulfur amino acid catabolic process; sulfur amino acid metabolic process | 22q13.1 |
| TSTA3 | GDP-mannose metabolic process; leukocyte cell-cell adhesion; 'de novo' GDP-L-fucose biosynthetic process; cellular metabolic process | 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 | cell cycle; mitochondrial respiratory chain complex III assembly; 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 | cell projection organization; cilium assembly; establishment of anatomical structure orientation; sensory processing | 14q31.3 |
| TTC9 | - | 14q24.2 |
| TTC9B | - | 19q13.2 |
| TTC9C | - | 11q12.3 |
| TTF1 | regulation of transcription, DNA-dependent; transcription termination, DNA-dependent; chromatin remodeling; transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; termination of RNA polymerase I transcription; negative regulation of DNA replication; gene expression | 9q34.13 |
| TTF2 | termination of RNA polymerase II transcription; transcription termination, DNA-dependent; regulation of transcription, DNA-dependent; mRNA processing; RNA splicing | 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 | protein modification process; microtubule cytoskeleton organization; metabolic process; regulation of axon extension | 2q13 |
| TTLL1 | protein polyglutamylation; protein modification process | 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 modification process; protein polyglutamylation | 2p24.3-p24.1 |
| TTLL5 | protein modification process; transcription, DNA-dependent | 14q24.3 |
| TTLL6 | protein modification process; protein polyglutamylation | 17q21.32 |
| TTLL7 | protein modification process; multicellular organismal development; cell differentiation; nervous system development | 1p31.1 |
| TTLL8 | protein polyglycylation | 22q13.33 |
| TTLL9 | protein modification process | 20q11.21 |
| TTN | regulation of protein kinase activity; platelet degranulation; muscle contraction; striated muscle contraction; mitotic chromosome condensation; blood coagulation; platelet activation; cardiac muscle tissue morphogenesis; cardiac myofibril assembly; response to calcium ion; regulation of catalytic activity; sarcomerogenesis; cardiac muscle fiber development; sarcomere organization; skeletal muscle myosin thick filament assembly; skeletal muscle thin filament assembly; muscle filament sliding | 2q31 |
| TTN-AS1 | - | - |
| TTPA | embryonic placenta development; lipid metabolic process; transport; response to nutrient; response to pH; response to toxin; developmental process; vitamin E metabolic process; negative regulation of establishment of blood-brain barrier | 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 | iron ion transmembrane transport; cell adhesion; iron ion transport; ion transport | 19q13.4 |
| TTYH2 | ion transport | 17q25.1 |
| TTYH3 | chloride transport; ion transport | 7p22 |
| TUB | response to stimulus; positive regulation of phagocytosis | 11p15.5 |
| TUBA1A | protein polymerization; 'de novo' posttranslational protein folding; cellular protein metabolic process; cytoskeleton-dependent intracellular transport; microtubule-based movement; microtubule-based process; protein folding; mitotic cell cycle; G2/M transition of mitotic cell cycle; cell division | 12q13.12 |
| TUBA1B | microtubule cytoskeleton organization; microtubule-based process; cell division; protein polymerization; protein folding; cellular protein metabolic process; cytoskeleton-dependent intracellular transport; microtubule-based movement; 'de novo' posttranslational protein folding | 12q13.12 |
| TUBA1C | microtubule-based movement; protein folding; microtubule-based process; cytoskeleton-dependent intracellular transport; cell division; cellular protein metabolic process; protein polymerization; 'de novo' posttranslational protein folding | 12q13.12 |
| TUBA3C | - | 13q11 |
| TUBA3FP | - | 22q11.21 |
| TUBA3GP | - | 22q11.21 |
| TUBA4A | G2/M transition of mitotic cell cycle; 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 | microtubule-based movement; protein polymerization | 10p15.1 |
| TUBAP | - | 21q21.1 |
| TUBAP2 | - | 11q14.3 |
| TUBB | spindle assembly; protein polymerization; cell division; cytoskeleton-dependent intracellular transport; neuron differentiation; cellular process; mitosis; microtubule-based movement; natural killer cell mediated cytotoxicity; G2/M transition of mitotic cell cycle; mitotic cell cycle; microtubule-based process; cellular component movement | 6p21.33 |
| TUBB1 | protein polymerization; protein folding; microtubule-based movement; spindle assembly; 'de novo' posttranslational protein folding; cellular protein metabolic process | 20q13.32 |
| TUBB1P1 | - | Yq11.222 |
| TUBB1P2 | - | Yq11.221 |
| TUBB2A | microtubule-based movement; protein folding; mitosis; neuron differentiation; 'de novo' posttranslational protein folding; protein polymerization; cellular protein metabolic process | 6p25 |
| TUBB2B | mitosis; microtubule-based movement; neuron differentiation; cellular protein metabolic process; 'de novo' posttranslational protein folding; protein polymerization; neuron migration; protein folding | 6p25 |
| TUBB2BP1 | - | 6p25.2 |
| TUBB3 | protein folding; cellular protein metabolic process; axon guidance; 'de novo' posttranslational protein folding; microtubule-based movement; protein polymerization | 16q24.3 |
| TUBB3P1 | - | 6q15 |
| TUBB3P2 | - | 7q33 |
| TUBB4A | protein folding; microtubule-based movement; cellular protein metabolic process; 'de novo' posttranslational protein folding; protein polymerization; mitotic cell cycle; G2/M transition of mitotic cell cycle | 19p13.3 |
| TUBB4AP1 | - | Xq25 |
| TUBB4B | cellular protein metabolic process; 'de novo' posttranslational protein folding; natural killer cell mediated cytotoxicity; microtubule-based movement; protein folding; cellular component movement; protein polymerization; mitotic cell cycle; G2/M transition of mitotic cell cycle | 9q34 |
| TUBB4BP6 | - | - |
| TUBB4BP7 | - | 6q25.2 |
| TUBB6 | protein folding; microtubule-based movement; cellular protein metabolic process; 'de novo' posttranslational protein folding; protein polymerization | 18p11.21 |
| TUBB7P | - | 4q35 |
| TUBB8P1 | - | - |
| TUBB8P10 | - | 1q42.13 |
| TUBB8P11 | - | 1p36.33 |
| TUBB8P3 | - | 4q25 |
| TUBB8P4 | - | 12p11.1 |
| TUBB8P6 | - | 1q43 |
| TUBBP1 | - | 8p12 |
| TUBBP2 | - | 13q14.11 |
| TUBBP5 | protein polymerization; microtubule-based movement | 9q34.3 |
| TUBBP6 | - | 7p11.2 |
| TUBBP9 | - | 6p21.2 |
| TUBD1 | protein polymerization; microtubule-based movement; multicellular organismal development; spermatogenesis; cell differentiation | 17q23.1 |
| TUBE1 | microtubule-based movement; protein polymerization; centrosome cycle | 6q21 |
| TUBG1 | G2/M transition of mitotic cell cycle; meiotic spindle organization; microtubule cytoskeleton organization; mitotic cell cycle; protein polymerization | 17q21 |
| TUBG1P | - | 7p13 |
| TUBG2 | G2/M transition of mitotic cell cycle; protein polymerization; microtubule-based process; mitotic cell cycle | 17q21 |
| TUBGCP2 | microtubule nucleation; protein complex assembly; mitotic cell cycle; G2/M transition of mitotic cell cycle | 10q26.3 |
| TUBGCP3 | mitotic cell cycle; microtubule nucleation; single fertilization; G2/M transition of mitotic cell cycle | 13q34 |
| TUBGCP4 | microtubule nucleation; G2/M transition of mitotic cell cycle; protein complex assembly; mitotic cell cycle | 15q15 |
| TUBGCP5 | G2/M transition of mitotic cell cycle; mitotic cell cycle; microtubule nucleation | 15q11.2 |
| TUBGCP6 | microtubule nucleation; mitotic cell cycle; G2/M transition of mitotic cell cycle | 22q13.31-q13.33 |
| TUFM | translational elongation | 16p11.2 |
| TUFMP1 | - | 17q11.1 |
| TUFT1 | odontogenesis; bone mineralization | 1q21 |
| TUG1 | - | 22q12.2 |
| TULP1 | phototransduction; visual perception; G-protein coupled receptor signaling pathway; retina development in camera-type eye; response to stimulus; positive regulation of phagocytosis; photoreceptor cell maintenance; eye photoreceptor cell development; dendrite development | 6p21.3 |
| TULP2 | visual perception | 19q13.1 |
| TULP3 | regulation of transcription, DNA-dependent; multicellular organismal development; G-protein coupled receptor signaling pathway | 12p13.3 |
| TULP4 | response to nutrient; intracellular signal transduction; regulation of transcription, DNA-dependent | 6q25-q26 |
| TUNAR | - | - |
| TUSC1 | - | 9p21.2 |
| TUSC2 | cell cycle; cell-cell signaling; cell proliferation | 3p21.3 |
| TUSC3 | protein N-linked glycosylation; cognition; cell redox homeostasis; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; magnesium ion transport; transport | 8p22 |
| TUSC5 | response to biotic stimulus | 17p13.3 |
| TUT1 | histone mRNA catabolic process; snRNA processing; mRNA cleavage; mRNA polyadenylation | 11q12.2 |
| TVP23A | - | 16p13.13 |
| TVP23B | - | 17p11.2 |
| TVP23BP1 | - | 15q12 |
| TVP23C | - | 17p12 |
| TWF1 | regulation of actin phosphorylation; negative regulation of actin filament polymerization; sequestering of actin monomers | 12q12 |
| TWF2 | sequestering of actin monomers; positive regulation of axon extension; regulation of actin cytoskeleton organization; positive regulation of neuron projection development; regulation of microvillus length; cellular response to retinoic acid; positive regulation of lamellipodium assembly; negative regulation of actin filament polymerization; barbed-end actin filament capping; cellular response to growth factor stimulus | 3p21.1 |
| TWIST1 | mitral valve morphogenesis; negative regulation of DNA damage response, signal transduction by p53 class mediator; transcription from RNA polymerase II promoter; aortic valve morphogenesis; neural tube closure; neuron migration; in utero embryonic development; outer ear morphogenesis; embryonic digit morphogenesis; negative regulation of sequence-specific DNA binding transcription factor activity; embryonic hindlimb morphogenesis; apoptotic process; multicellular organismal development; muscle organ development; positive regulation of gene expression; positive regulation of epithelial to mesenchymal transition; negative regulation of phosphatidylinositol 3-kinase cascade; regulation of bone mineralization; positive regulation of fatty acid beta-oxidation; negative regulation of tumor necrosis factor production; positive regulation of tumor necrosis factor production; negative regulation of histone phosphorylation; negative regulation of histone acetylation; embryonic forelimb morphogenesis; positive regulatio | 7p21.2 |
| TWIST2 | face morphogenesis; embryonic cranial skeleton morphogenesis; negative regulation of transcription, DNA-dependent; negative regulation of myeloid cell differentiation; negative regulation of transcription from RNA polymerase II promoter; anti-apoptosis; multicellular organismal development; negative regulation of cell proliferation; positive regulation of keratinocyte proliferation; cornea development in camera-type eye; negative regulation of tumor necrosis factor production; negative regulation of DNA binding; negative regulation of molecular function; negative regulation of osteoblast differentiation | 2q37.3 |
| TWISTNB | - | 7p21.1 |
| TWSG1 | cell differentiation; hemopoiesis; positive regulation of BMP signaling pathway; negative regulation of BMP signaling pathway; forebrain development; mesoderm formation; camera-type eye development; negative regulation of osteoblast differentiation; ossification; salivary gland morphogenesis; embryo development; tissue development | 18p11.3 |
| TXK | positive regulation of interferon-gamma-mediated signaling pathway; positive regulation of interferon-gamma production; interleukin-4 production; activation of phospholipase C activity; protein autophosphorylation; T cell receptor signaling pathway; cytokine production; NK T cell differentiation; adaptive immune response; regulation of transcription from RNA polymerase II promoter; protein phosphorylation | 4p12 |
| TXLNA | cell proliferation; exocytosis | 1p35.1 |
| TXLNB | - | 6q24.1 |
| TXLNG | regulation of transcription, DNA-dependent; regulation of cell cycle process; regulation of bone mineralization; regulation of cell cycle | Xp22.2 |
| TXLNGY | - | Yq11.222 |
| TXN | glycerol ether metabolic process; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; electron transport chain; cell proliferation; cell-cell signaling; signal transduction; cellular component movement; transport; response to radiation; nucleobase-containing small molecule interconversion; regulation of protein import into nucleus, translocation; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; positive regulation of DNA binding; small molecule metabolic process; innate immune response; cell redox homeostasis; negative regulation of protein export from nucleus; nucleobase-containing small molecule metabolic process; oxidation-reduction process | 9q31 |
| TXN2 | transport; glycerol ether metabolic process; response to drug; electron transport chain; cellular response to nutrient levels; response to organic cyclic compound; response to glucose stimulus; response to hypoxia; response to oxidative stress; response to axon injury; response to hormone stimulus; cell redox homeostasis; response to nutrient | 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; cell differentiation; spermatogenesis; multicellular organismal development; glycerol ether metabolic process; protein thiol-disulfide exchange | - |
| TXNDC5 | post-Golgi vesicle-mediated transport; cell redox homeostasis; cellular membrane organization; anti-apoptosis; glycerol ether metabolic process | 6p24.3 |
| TXNDC9 | cell redox homeostasis | 2q11.2 |
| TXNIP | positive regulation of apoptotic process; cell cycle; innate immune response; response to hydrogen peroxide; platelet-derived growth factor receptor signaling pathway; response to calcium ion; regulation of cell proliferation; negative regulation of cell division; response to mechanical stimulus; cellular response to tumor cell; response to drug; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; protein import into nucleus; response to oxidative stress; response to glucose stimulus; keratinocyte differentiation; response to estradiol stimulus; response to progesterone stimulus; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway | 1q21.1 |
| TXNL1 | glycerol ether metabolic process; transport; electron transport chain; cell redox homeostasis | 18q21.31 |
| TXNL1P1 | - | - |
| TXNL4A | RNA splicing; cell division; cell cycle; nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions; mitosis; gene expression; spliceosome assembly | 18q23 |
| TXNL4B | RNA splicing; mitosis; cell cycle; mRNA processing | 16q22.2 |
| TXNRD1 | transport; nucleobase-containing small molecule metabolic process; cell redox homeostasis; small molecule metabolic process; cellular lipid metabolic process; electron transport chain; nucleobase-containing small molecule interconversion; signal transduction | 12q23-q24.1 |
| TXNRD2 | cell redox homeostasis; hemopoiesis; heart development; response to oxygen radical; response to selenium ion | 22q11.21 |
| TYK2 | intracellular protein kinase cascade; protein phosphorylation; cytokine-mediated signaling pathway; type I interferon-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway | 19p13.2 |
| TYMP | pyrimidine base metabolic process; DNA replication; pyrimidine nucleotide metabolic process; angiogenesis; mitochondrial genome maintenance; nucleobase-containing small molecule metabolic process; pyrimidine nucleoside catabolic process; small molecule metabolic process; pyrimidine nucleoside salvage; cell differentiation; multicellular organismal development; chemotaxis | 22q13.33 |
| TYMS | response to glucocorticoid stimulus; cartilage development; nucleobase-containing small molecule metabolic process; intestinal epithelial cell maturation; developmental growth; phosphatidylinositol-mediated signaling; response to organophosphorus; pyrimidine nucleoside biosynthetic process; dUMP metabolic process; small molecule metabolic process; response to drug; organ regeneration; immortalization of host cell by virus; nucleotide biosynthetic process; 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; G1/S transition of mitotic cell cycle | 18p11.32 |
| TYMSOS | - | 18p11.32 |
| TYR | visual perception; cell proliferation; pigmentation; thymus development; melanin biosynthetic process from tyrosine; eye pigment biosynthetic process | 11q14-q21 |
| TYRO3 | signal transduction by phosphorylation; ovulation cycle; forebrain cell migration; platelet aggregation; neuron homeostasis; vagina development; negative regulation of lymphocyte activation; negative regulation of inflammatory response; protein autophosphorylation; substrate adhesion-dependent cell spreading; negative regulation of neuron apoptosis; platelet activation; secretion by cell; negative regulation of toll-like receptor signaling pathway; apoptotic cell clearance; phosphatidylinositol 3-kinase cascade; spermatogenesis; signal transduction; cell adhesion; natural killer cell differentiation; protein kinase B signaling cascade; negative regulation of innate immune response | 15q15 |
| TYRO3P | - | 15q24.2 |
| TYROBP | cellular defense response; signal transduction; axon guidance; intracellular signal transduction; regulation of immune response | 19q13.1 |
| TYRP1 | pigmentation; melanocyte differentiation; melanin biosynthetic process; acetoacetic acid metabolic process; melanosome organization | 9p23 |
| TYSND1 | protein homooligomerization; regulation of fatty acid beta-oxidation; protein processing; proteolysis | 10q22.1 |
| TYW1 | tRNA processing | 7q11.21 |
| TYW1B | tRNA processing | 7q11.23 |
| TYW3 | tRNA processing | 1p31.1 |
| TYW5 | tRNA processing; wybutosine biosynthetic process | 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 | RNA splicing; mRNA processing | 19q13.12 |
| U2AF2 | mRNA processing; gene expression; RNA splicing; mRNA export from nucleus; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome; mRNA 3'-end processing; negative regulation of 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 | protein modification process; positive regulation of catalytic activity; protein sumoylation | 19q12 |
| UBA3 | regulation of cell cycle; negative regulation of transcription, DNA-dependent; protein neddylation; endomitotic cell cycle; proteolysis; protein modification process | 3p24.3-p13 |
| UBA5 | protein ufmylation; oxidation-reduction process | 3q22.1 |
| UBA52 | nucleotide-binding oligomerization domain containing signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; DNA repair; fibroblast growth factor receptor signaling pathway; Toll signaling pathway; JNK cascade; I-kappaB kinase/NF-kappaB cascade; epidermal growth factor receptor signaling pathway; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; anti-apoptosis; apoptotic process; SRP-dependent cotranslational protein targeting to membrane; protein modification process; translational termination; translational elongation; translational initiation; translation; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; 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-li | 19p13.1-p12 |
| UBA52P1 | - | 7p15.2 |
| UBA52P3 | - | 14q23.1 |
| UBA52P6 | - | 9p21.3 |
| UBA52P8 | - | 16q12 |
| UBA52P9 | - | 18q11.2-q12.1 |
| UBA6 | protein ubiquitination; ubiquitin-dependent protein catabolic process; 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 | negative regulation of T cell receptor signaling pathway; regulation of cytokine production | 21q22.3 |
| UBASH3B | - | 11q24.1 |
| UBB | antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I; mRNA metabolic process; endosome transport; cytokine-mediated signaling pathway; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; negative regulation of type I interferon 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 epidermal growth factor receptor signaling pathway; RNA metabolic process; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; egress of virus within host cell; nerve growth factor receptor signaling pathway; T cell receptor signaling pathway; positive re | 17p12-p11.2 |
| UBBP1 | - | 2q14.3 |
| UBBP2 | - | 1q32 |
| UBBP3 | - | 2q22.3 |
| UBBP4 | - | 17p11.2 |
| UBBP5 | - | - |
| UBC | protein polyubiquitination; epidermal growth factor receptor signaling pathway; cellular membrane organization; viral reproduction; gene expression; induction of apoptosis by extracellular signals; fibroblast growth factor receptor signaling pathway; Toll signaling pathway; JNK cascade; I-kappaB kinase/NF-kappaB cascade; RNA metabolic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; anti-apoptosis; apoptotic process; 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; mRNA metabolic process; endosome transport; cytokine-mediated signaling pathway; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell cycle checkpoint; negative regulation of type I interferon production; toll | 12q24.3 |
| UBDP1 | - | 6p22.1 |
| UBE2A | response to UV; 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; positive regulation of cell proliferation; chromatin modification; histone H2A ubiquitination; protein autoubiquitination; maternal process involved in female pregnancy; protein K48-linked ubiquitination; protein K11-linked ubiquitination | Xq24 |
| UBE2B | histone lysine demethylation; response to UV; positive regulation of reciprocal meiotic recombination; protein ubiquitination; regulation of histone modification; cellular response to insulin stimulus; negative regulation of histone phosphorylation; histone H2A ubiquitination; response to drug; negative regulation of apoptotic process; proteasomal ubiquitin-dependent protein catabolic process; negative regulation of cAMP-mediated signaling; protein stabilization; chiasma assembly; protein autoubiquitination; canonical Wnt receptor signaling pathway; synaptonemal complex organization; 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 K63-linked ubiquitination; protein K48-linked ubiquitination; protein K11-linked ubiquitination; response to hypoxia; protein polyubiquitination | 5q31.1 |
| UBE2C | protein K11-linked ubiquitination; protein K48-linked ubiquitination; activation of anaphase-promoting complex activity; negative 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 involved in mitotic cell cycle; cell cycle checkpoint; cell division; 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; exit from mitosis; cyclin catabolic process; mitotic cell cycle spindle assembly checkpoint; mitosis; spindle organization; cell cycle; ubiquitin-dependent protein catabolic process; mitotic cell cycle | 20q13.12 |
| UBE2CP2 | - | 18q11.2 |
| UBE2CP4 | - | 15q13.3 |
| UBE2D1 | protein polyubiquitination; 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; positive regulation of protein ubiquitination; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; BMP signaling pathway; transforming growth factor beta receptor signaling pathway; mitotic cell cycle spindle assembly checkpoint; ubiquitin-dependent protein catabolic process; cell cycle checkpoint; mitotic cell cycle | 10q21.1 |
| UBE2D2 | protein ubiquitination; protein K48-linked ubiquitination; ubiquitin-dependent protein catabolic process; protein modification process | 5q31.2 |
| UBE2D3 | innate immune response; protein polyubiquitination; DNA repair; protein modification process; ubiquitin-dependent protein catabolic process; protein monoubiquitination; apoptotic process; transforming growth factor beta receptor signaling pathway; protein ubiquitination; BMP signaling pathway; negative regulation of type I interferon production; proteasomal ubiquitin-dependent protein catabolic process; protein K48-linked ubiquitination; protein K11-linked ubiquitination | 4q24 |
| UBE2D3P1 | - | 20p12.3 |
| UBE2D3P4 | - | 13q31.1 |
| UBE2D4 | protein K6-linked ubiquitination; protein K27-linked ubiquitination; protein K63-linked ubiquitination; protein K29-linked ubiquitination; protein K48-linked ubiquitination; protein K11-linked ubiquitination | 7p13 |
| UBE2DNL | - | Xq21.1 |
| UBE2E1 | histone monoubiquitination; mitotic cell cycle spindle assembly checkpoint; cell cycle checkpoint; protein polyubiquitination; mitotic cell cycle; ubiquitin-dependent protein catabolic process; protein ubiquitination; cytokine-mediated signaling pathway; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; ISG15-protein conjugation; histone H2B 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 | 3p24.2 |
| UBE2E2 | ISG15-protein conjugation; protein K11-linked ubiquitination; protein K48-linked ubiquitination; protein K63-linked ubiquitination | 3p24.2 |
| UBE2E3 | protein K48-linked ubiquitination; protein K11-linked ubiquitination; regulation of growth; protein K63-linked ubiquitination | 2q32.1 |
| UBE2E4P | - | Xp22.2 |
| UBE2F | protein neddylation | 2q37.3 |
| UBE2FP1 | - | - |
| UBE2G1 | ubiquitin-dependent protein catabolic process; protein K63-linked ubiquitination; protein K48-linked ubiquitination | 17p13.2 |
| UBE2G2 | ubiquitin-dependent protein catabolic process; ER-associated protein catabolic process; protein K48-linked ubiquitination | 21q22.3 |
| UBE2H | protein K11-linked ubiquitination; protein ubiquitination; protein K48-linked ubiquitination; ubiquitin-dependent protein catabolic process | 7q32 |
| UBE2HP1 | - | 8q21.13 |
| UBE2I | protein ubiquitination; negative regulation of transcription from RNA polymerase II promoter; protein modification process; ubiquitin-dependent protein catabolic process; cell cycle; chromosome segregation; mitosis; regulation of receptor activity; protein sumoylation; positive regulation of intracellular steroid hormone receptor signaling pathway; proteasomal ubiquitin-dependent protein catabolic process; interspecies interaction between organisms; negative regulation of transcription, DNA-dependent; positive regulation of sequence-specific DNA binding transcription factor activity; cell division | 16p13.3 |
| UBE2J1 | - | 6q15 |
| UBE2J2 | response to unfolded protein | 1p36.33 |
| UBE2K | protein K48-linked ubiquitination; protein ubiquitination; ubiquitin-dependent protein catabolic process | 4p14 |
| UBE2L1 | - | 14q22.3 |
| UBE2L3 | protein modification process; regulation of S phase of mitotic cell cycle; cell proliferation; protein polyubiquitination; regulation of transcription, DNA-dependent; protein ubiquitination; ubiquitin-dependent protein catabolic process; protein K11-linked ubiquitination; cellular response to steroid hormone stimulus; cellular response to glucocorticoid stimulus | 22q11.21 |
| UBE2L6 | cytokine-mediated signaling pathway; modification-dependent protein catabolic process; ISG15-protein conjugation; protein modification process; protein ubiquitination; negative regulation of type I interferon production; innate immune response | 11q12 |
| UBE2M | positive regulation of neuron apoptosis; protein modification process; protein ubiquitination; protein neddylation | 19q13.43 |
| UBE2MP1 | - | 16p11.2 |
| UBE2N | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; regulation of DNA repair; positive regulation of I-kappaB kinase/NF-kappaB cascade; T cell receptor signaling pathway; 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; innate immune response; positive regulation of DNA repair; toll-like receptor 2 signaling pathway; double-strand break repair via homologous recombination; DNA double-strand break processing; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; postreplication repair; protein modification process; proteolysis; Toll signaling pathway; protein ubiquitination; histone ubiquitination; cytokine-mediated signaling pathway; positive regulation of histone modification; regulation of histone ubiquitination; toll-li | 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 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; protein modification process; cell cycle; exit from mitosis; free ubiquitin chain polymerization; protein K63-linked ubiquitination; protein K29-linked ubiquitination; protein K27-linked ubiquitination; cell division; activation of anaphase-promoting complex activity; protein K6-linked ubiquitination; protein K11-linked ubiquitination | 19q13.43 |
| UBE2SP1 | - | 17p11.2 |
| UBE2T | protein K29-linked ubiquitination; protein K27-linked ubiquitination; DNA repair; protein K63-linked ubiquitination; protein K48-linked ubiquitination; protein K6-linked ubiquitination; protein K11-linked ubiquitination | 1q32.1 |
| UBE2U | - | 1p31.3 |
| UBE2V1 | 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; Toll signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; cell differentiation; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; regulation of transcription, DNA-dependent; protein polyubiquitination; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; regulation of DNA repair | 20q13.2 |
| UBE2V1P2 | - | 3q26.31 |
| UBE2V1P5 | - | 10q25.3 |
| UBE2V1P6 | - | 2q31.1 |
| UBE2V1P9 | - | Xq21.31 |
| UBE2V2 | cell proliferation; protein ubiquitination; regulation of DNA repair; DNA double-strand break processing; protein polyubiquitination | 8q11.21 |
| UBE2V2P1 | - | 10p12.31 |
| UBE2W | protein K11-linked ubiquitination; protein monoubiquitination | 8q21.11 |
| UBE2Z | apoptotic process | 17q21.32 |
| UBE3A | positive regulation of transcription from RNA polymerase II promoter; protein K48-linked ubiquitination; prostate gland growth; interspecies interaction between organisms; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; androgen receptor signaling pathway; sperm entry; positive regulation of phosphatidylinositol 3-kinase cascade; brain development; ovarian follicle development; protein modification process; proteolysis; ubiquitin-dependent protein catabolic process | 15q11.2 |
| UBE3B | protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein modification process | 12q24.11 |
| UBE3C | protein modification process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; protein polyubiquitination | 7q36.3 |
| UBE3D | - | 6q14.1 |
| UBE4A | ubiquitin-dependent protein catabolic process | 11q23.3 |
| UBE4B | neuron projection development; response to UV; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; cellular protein catabolic process; apoptotic process; response to endoplasmic reticulum stress; 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; protein modification process; tail-anchored membrane protein insertion into ER membrane | Xq28 |
| UBL5 | - | 19p13.3 |
| UBL5P2 | - | 17q11.2 |
| UBL5P3 | - | 3p14.2 |
| UBL7 | - | 15q24.1 |
| UBL7-AS1 | - | 15q24.1 |
| UBLCP1 | - | 5q33.3 |
| UBN1 | chromatin modification; interspecies interaction between organisms; negative regulation of phosphatase activity; regulation of transcription from RNA polymerase II promoter | 16p13.3 |
| UBN2 | - | 7q34 |
| UBOX5 | protein polyubiquitination | 20p13 |
| UBOX5-AS1 | - | - |
| UBP1 | negative regulation of transcription, DNA-dependent; viral genome replication; regulation of transcription from RNA polymerase II promoter; angiogenesis | 3p22.3 |
| UBQLN1 | regulation of protein ubiquitination; response to hypoxia; apoptotic process | 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 | ubiquitin-dependent protein catabolic process; protein catabolic process; negative regulation of TOR signaling cascade; cellular response to leucine | 15q13 |
| UBR2 | histone H2A ubiquitination; male meiosis I; protein catabolic process; negative regulation of TOR signaling cascade; spermatogenesis; ubiquitin-dependent protein catabolic process; chromatin silencing; cellular response to leucine | 6p21.1 |
| UBR3 | ubiquitin-dependent protein catabolic process; in utero embryonic development; suckling behavior; sensory perception of smell; embryo development; protein ubiquitination; olfactory behavior | 2q31.1 |
| UBR4 | interspecies interaction between organisms | 1p36.13 |
| UBR5 | positive regulation of canonical Wnt receptor signaling pathway; protein polyubiquitination; progesterone receptor signaling pathway; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; positive regulation of catenin import into nucleus; positive regulation of protein import into nucleus, translocation; protein ubiquitination; cell proliferation; response to DNA damage stimulus; ubiquitin-dependent protein catabolic process; protein modification process | 8q22 |
| UBR7 | - | 14q32.12 |
| UBTD1 | - | 10q24.2 |
| UBTD2 | - | 5q35.1 |
| UBTF | 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; gene expression; positive regulation of transcription from RNA polymerase I promoter; regulation of transcription from RNA polymerase I promoter; chromatin silencing at rDNA | 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 ubiquitination; regulation of protein catabolic process | 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 | protein deubiquitination; cell proliferation; metabolic process; adult walking behavior; axon target recognition; response to stress; ubiquitin-dependent protein catabolic process; proteolysis; cell death; axon transport of mitochondrion; eating behavior; negative regulation of MAP kinase activity; neuromuscular process | 4p14 |
| UCHL3 | protein catabolic process; ubiquitin-dependent protein catabolic process; proteolysis | 13q22.2 |
| UCHL5 | regulation of proteasomal protein catabolic process; negative regulation of endopeptidase activity; ubiquitin-dependent protein catabolic process; DNA repair; DNA recombination; regulation of transcription, DNA-dependent; forebrain morphogenesis; midbrain development; lateral ventricle development; proteolysis; protein deubiquitination | 1q32 |
| UCK1 | pyrimidine base metabolic process; metabolic process; nucleotide biosynthetic process; pyrimidine nucleoside salvage; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 9q34.13 |
| UCK2 | pyrimidine base metabolic process; cellular response to oxygen levels; nucleobase-containing small molecule metabolic process; response to axon injury; small molecule metabolic process; pyrimidine nucleoside salvage; nucleotide biosynthetic process; feeding behavior | 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; positive regulation of DNA replication; inflammatory response; response to oxidative stress; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; female pregnancy; learning or memory; pancreatic juice secretion; positive regulation of cell growth; neuron projection development; response to estradiol stimulus; positive regulation of interleukin-6 production; positive regulation of collagen biosynthetic process; drinking behavior; neuroprotection; positive regulation of translation; negative regulation of blood pressure | 2p23-p21 |
| UCN2 | cell proliferation; digestion; cAMP biosynthetic process; response to stress; cellular response to glucocorticoid stimulus; negative regulation of gonadotropin secretion | 3p21.3 |
| UCP2 | cellular response to insulin stimulus; mitochondrial transport; anion transport; transport; response to hypoxia; response to superoxide; response to glucose stimulus; proton transport; respiratory electron transport chain; cellular response to hormone stimulus; small molecule metabolic process; response to fatty acid | 11q13 |
| UCP3 | mitochondrial transport; fatty acid metabolic process; response to superoxide; response to hypoxia; lipid metabolic process; transmembrane transport; response to glucocorticoid stimulus; response to steroid hormone stimulus; small molecule metabolic process; cellular response to hormone stimulus; response to insulin stimulus; respiratory electron transport chain; aging; response to nutrient; respiratory gaseous exchange; response to cold; response to activity; proton transport | 11q13.4 |
| UEVLD | cellular carbohydrate metabolic process; protein transport; protein modification process | 11p15.1 |
| UFC1 | protein ufmylation | 1q23.3 |
| UFD1L | ubiquitin-dependent protein catabolic process; skeletal system development | 22q11.21 |
| UFL1 | protein ufmylation; negative regulation of NF-kappaB transcription factor activity; negative regulation of protein ubiquitination | 6q16.1 |
| UFL1-AS1 | - | 6q16.1 |
| UFM1 | protein ufmylation | 13q13.3 |
| UFSP1 | metabolic process | 7q22.1 |
| UFSP2 | metabolic process; proteolysis | 4q35.1 |
| UG0898H09 | - | 8q12.3 |
| UGCG | sphingolipid metabolic process; small molecule metabolic process; lipid biosynthetic process; glucosylceramide biosynthetic process; glycosphingolipid metabolic process; glycosphingolipid biosynthetic process; epidermis development | 9q31 |
| UGDH | UDP-glucose metabolic process; glycosaminoglycan biosynthetic process; UDP-glucuronate biosynthetic process; xenobiotic metabolic process; small molecule metabolic process; gastrulation with mouth forming second | 4p15.1 |
| UGGT1 | post-translational protein modification; protein folding; 'de novo' posttranslational protein folding; protein glycosylation; cellular protein metabolic process; protein N-linked glycosylation via asparagine | 2q14.3 |
| UGGT2 | post-translational protein modification; protein folding; cellular protein metabolic process; protein N-linked glycosylation via asparagine; protein glycosylation | 13q32.1 |
| UGP2 | UDP-glucose metabolic process; small molecule metabolic process; glucose 1-phosphate metabolic process; phosphorylation; xenobiotic metabolic process; UDP-glucuronate biosynthetic process; glucose metabolic process; glycogen biosynthetic process; carbohydrate metabolic process | 2p14-p13 |
| UGT1A10 | cellular glucuronidation; flavone metabolic process; metabolic process | 2q37 |
| UGT1A12P | - | 2q37 |
| UGT1A13P | - | 2q37 |
| UGT1A5 | xenobiotic metabolic process; metabolic process | 2q37 |
| UGT1A6 | metabolic process; small molecule metabolic process; xenobiotic metabolic process | 2q37 |
| UGT1A9 | flavone metabolic process; cellular lipid metabolic process; retinoic acid metabolic process; drug metabolic process; metabolic process; small molecule metabolic process; xenobiotic metabolic process; flavonoid glucuronidation; xenobiotic glucuronidation; negative regulation of catalytic activity; negative regulation of fatty acid metabolic process | 2q37 |
| UGT2A2 | - | 4q13.3 |
| UGT2A3 | metabolic process; cellular glucuronidation | 4q13.2 |
| UGT2A3P7 | - | - |
| UGT2B10 | metabolic process; lipid metabolic process | 4q13.2 |
| UGT2B15 | xenobiotic metabolic process; metabolic process; steroid metabolic process; cellular glucuronidation | 4q13 |
| UGT2B27P | - | 4q13 |
| UGT2B28 | metabolic process; xenobiotic metabolic process | 4q13.2 |
| UGT2B29P | - | 4q13 |
| UGT2B4 | estrogen catabolic process; xenobiotic metabolic process; metabolic process; cellular glucuronidation | 4q13 |
| UGT2B7 | metabolic process; lipid metabolic process; cellular glucuronidation | 4q13 |
| UGT3A1 | metabolic process | 5p13.2 |
| UGT3A2 | metabolic process | 5p13.2 |
| UGT8 | neuron projection morphogenesis; paranodal junction assembly; protein localization to paranode region of axon; cytoskeleton organization; axon cargo transport; central nervous system development; peripheral nervous system development; metabolic process | 4q26 |
| UHMK1 | cell cycle arrest; peptidyl-serine phosphorylation; neuron projection development; positive regulation of translational initiation; regulation of protein export from nucleus; protein autophosphorylation | 1q23.3 |
| UHRF1 | cell proliferation; DNA repair; regulation of transcription, DNA-dependent; cell cycle; 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 | cell differentiation; positive regulation of cell cycle arrest; protein autoubiquitination; regulation of cell cycle; protein ubiquitination; cell proliferation; ubiquitin-dependent protein catabolic process | 9p24.1 |
| UHRF2P1 | - | Xq13.2 |
| UIMC1 | double-strand break repair; response to ionizing radiation; histone H2A K63-linked deubiquitination; negative regulation of transcription, DNA-dependent; positive regulation of DNA repair; G2/M transition DNA damage checkpoint; chromatin modification | 5q35.2 |
| ULBP1 | antigen processing and presentation; regulation of immune response; natural killer cell activation | 6q25 |
| ULBP2 | natural killer cell activation; regulation of immune response; antigen processing and presentation | 6q25 |
| ULBP3 | natural killer cell activation; regulation of immune response; antigen processing and presentation | 6q25 |
| ULK1 | signal transduction; regulation of autophagy; protein localization; axonogenesis; positive regulation of autophagy; protein phosphorylation; neuron projection regeneration; neuron projection development; cellular response to nutrient levels; response to starvation; protein autophosphorylation | 12q24.3 |
| ULK2 | signal transduction; protein autophosphorylation; nervous system development; response to starvation; regulation of autophagy; axonogenesis | 17p11.2 |
| ULK3 | autophagy; cellular senescence; protein autophosphorylation; positive regulation of smoothened signaling pathway; negative regulation of smoothened signaling pathway | 15q24.1 |
| ULK4 | - | 3p22.1 |
| ULK4P1 | - | 15q13.3 |
| UMAD1 | - | 7p21.3 |
| UMOD | chemical homeostasis; regulation of ion homeostasis; metanephric thick ascending limb development; metanephric distal convoluted tubule development; metanephric ascending thin limb development; response to organic substance; negative regulation of cell proliferation; excretion; cellular defense response | 16p12.3 |
| UMODL1 | - | 21q22.3 |
| UMODL1-AS1 | - | 21q22.3 |
| UMPS | nucleobase-containing small molecule metabolic process; 'de novo' UMP biosynthetic process; pyrimidine nucleotide biosynthetic process; 'de novo' pyrimidine base biosynthetic process; pyrimidine base metabolic process; pyrimidine nucleoside biosynthetic process; UMP biosynthetic process; nucleoside metabolic process; small molecule metabolic process | 3q13 |
| UNC119 | synaptic transmission; visual perception; lipoprotein transport; phototransduction; response to stimulus | 17q11.2 |
| UNC119B | cell projection organization; lipoprotein transport; cilium morphogenesis | 12q24.31 |
| UNC13A | intracellular signal transduction; exocytosis | 19p13.11 |
| UNC13B | signal transduction; excretion; intracellular signal transduction; induction of apoptosis; exocytosis | 9p13.3 |
| UNC13C | intracellular signal transduction; synaptic transmission; exocytosis | 15q21.3 |
| UNC13D | natural killer cell degranulation; regulation of mast cell degranulation; defense response to virus; phagocytosis; germinal center formation; granuloma formation; secretion; positive regulation of exocytosis | 17q25.1 |
| UNC45A | multicellular organismal development; cell differentiation; muscle organ development | 15q26.1 |
| UNC45B | cell differentiation; multicellular organismal development; muscle organ development | 17q12 |
| UNC50 | cell surface receptor signaling pathway; protein transport | 2q11.2 |
| UNC5A | multicellular organismal development; axon guidance; regulation of apoptotic process; apoptotic process; signal transduction | 5q35.2 |
| UNC5B | axon guidance; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; multicellular organismal development; signal transduction; apoptotic process; regulation of apoptotic process | 10q22.1 |
| UNC5B-AS1 | - | 10q22.1 |
| UNC5C | brain development; axon guidance; regulation of cell migration; multicellular organismal development; netrin-activated signaling pathway; signal transduction; apoptotic process | 4q21-q23 |
| UNC5CL | signal transduction | 6p21.1 |
| UNC5D | apoptotic process; multicellular organismal development; axon guidance; signal transduction | 8p12 |
| UNC79 | - | 14q32.12 |
| UNC80 | - | 2q35 |
| UNC93A | - | 6q27 |
| UNC93B1 | toll-like receptor 3 signaling pathway; toll-like receptor 7 signaling pathway; toll-like receptor 9 signaling pathway; response to virus; intracellular protein transport; innate immune response | 11q13 |
| UNC93B5 | - | 11q13.2 |
| UNC93B6 | - | 11q13.4 |
| UNG | DNA repair; interspecies interaction between organisms; somatic recombination of immunoglobulin gene segments; somatic hypermutation of immunoglobulin genes; metabolic process; base-excision repair | 12q23-q24.1 |
| UNGP3 | - | 14q31.1 |
| UNK | - | 17q25.1 |
| UNKL | - | 16p13.3 |
| UNQ6494 | - | 9q22.2 |
| UOX | - | 1p22 |
| UPB1 | nitrogen compound metabolic process; pyrimidine base metabolic process; small molecule metabolic process; pyrimidine nucleoside catabolic process; nucleobase-containing small molecule metabolic process | 22q11.2 |
| UPF1 | mRNA metabolic process; histone mRNA catabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; DNA replication; DNA repair; mRNA export from nucleus; regulation of translational termination; cell cycle; gene expression; RNA metabolic process | 19p13.2-p13.11 |
| UPF2 | RNA metabolic process; gene expression; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; mRNA export from nucleus | 10p14-p13 |
| UPF3A | RNA metabolic process; gene expression; mRNA transport; positive regulation of translation; mRNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; transport; nucleocytoplasmic transport | 13q34 |
| UPF3AP1 | - | 17p11.2 |
| UPF3AP2 | - | 17p11.2 |
| UPF3B | mRNA export from nucleus; nucleocytoplasmic transport; positive regulation of translation; transport; mRNA 3'-end processing; RNA splicing; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; gene expression; termination of RNA polymerase II transcription; RNA metabolic process; mRNA metabolic process | Xq25-q26 |
| UPK1A | protein oligomerization; epithelial cell differentiation | 19q13.13 |
| UPK1B | epithelial cell differentiation | 3q13.32 |
| UPK2 | multicellular organismal development; cellular membrane organization; epithelial cell differentiation | 11q23 |
| UPK3A | urinary bladder development; sodium ion homeostasis; potassium ion homeostasis; epithelial cell differentiation; urea transport; water transport; kidney development; cell morphogenesis | 22q13.31 |
| UPK3B | negative regulation of gene expression | 7q11.2 |
| UPP1 | small molecule metabolic process; uridine metabolic process; pyrimidine nucleoside catabolic process; nucleobase-containing small molecule metabolic process; pyrimidine nucleoside salvage; nucleotide catabolic process; nucleoside metabolic process; pyrimidine nucleotide metabolic process; pyrimidine base metabolic process; nucleobase-containing compound metabolic process | 7p12.3 |
| UPRT | - | Xq13.3 |
| UQCC1 | - | 20q11.22 |
| UQCC2 | - | 6p21.31 |
| UQCC3 | - | 11q12.3 |
| UQCR10 | transport; small molecule metabolic process; mitochondrial electron transport, ubiquinol to cytochrome c; respiratory electron transport chain | 22q12.2 |
| UQCR11 | small molecule metabolic process; proton transport; generation of precursor metabolites and energy; transport; ion transmembrane transport; respiratory electron transport chain | 19p13.3 |
| UQCRB | aerobic respiration; oxidative phosphorylation; mitochondrial electron transport, ubiquinol to cytochrome c; oxidation-reduction process; small molecule metabolic process; respiratory electron transport chain; transport | 8q22 |
| UQCRC1 | response to alkaloid; oxidative phosphorylation; mitochondrial electron transport, ubiquinol to cytochrome c; proteolysis; transport; aerobic respiration; response to activity; respiratory electron transport chain; small molecule metabolic process; oxidation-reduction process | 3p21.3 |
| UQCRC2 | aerobic respiration; oxidative phosphorylation; proteolysis; transport; respiratory electron transport chain; small molecule metabolic process | 16p12 |
| UQCRFS1 | transport; oxidation-reduction process; response to antibiotic; small molecule metabolic process; response to drug; respiratory electron transport chain; response to hormone stimulus | 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 | hypothalamus development; midbrain development; respiratory electron transport chain; small molecule metabolic process; pyramidal neuron development; thalamus development; hippocampus development; cerebellar Purkinje cell layer development; pons development; transport; subthalamus development | 5q31.1 |
| URAHP | - | 16q24.3 |
| URB1 | - | 21q22.11 |
| URB1-AS1 | - | 21q22.11 |
| URB2 | - | 1q42.13 |
| URGCP | cell cycle | 7p13 |
| URI1 | negative regulation of transcription from RNA polymerase II promoter; cellular response to steroid hormone stimulus; cellular response to growth factor 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 | 19q12 |
| URM1 | tRNA processing; tRNA wobble uridine modification; tRNA thio-modification | 9q34.11 |
| UROC1 | cellular nitrogen compound metabolic process; histidine catabolic process; small molecule metabolic process | 3q21.3 |
| UROD | response to amine stimulus; response to iron ion; heme biosynthetic process; porphyrin-containing compound biosynthetic process; porphyrin-containing compound metabolic process; liver development; response to organic cyclic compound; response to mercury ion; uroporphyrinogen III metabolic process; response to ethanol; small molecule metabolic process; response to estradiol stimulus; response to methylmercury; response to fungicide; cellular response to arsenic-containing substance | 1p34 |
| UROS | cellular response to arsenic-containing substance; small molecule metabolic process; response to antibiotic; porphyrin-containing compound metabolic process; uroporphyrinogen III biosynthetic process; heme biosynthetic process; tetrapyrrole biosynthetic process; cellular response to amine stimulus | 10q25.2-q26.3 |
| USB1 | - | 16q21 |
| USE1 | vesicle-mediated transport; secretion by cell; regulation of ER to Golgi vesicle-mediated transport; endoplasmic reticulum tubular network organization; lysosomal transport; protein transport; protein catabolic process; ER to Golgi vesicle-mediated transport | 19p13.11 |
| USF1 | lipid 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; cellular response to insulin stimulus; positive regulation of transcription from RNA polymerase II promoter; carbon catabolite regulation of transcription; negative regulation of fibrinolysis; glucose homeostasis | 1q22-q23 |
| USF2 | lipid homeostasis; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter by glucose; positive regulation of transcription from RNA polymerase II promoter by glucose; regulation of transcription, DNA-dependent; lactation; late viral mRNA transcription | 19q13 |
| USF3 | - | 3q13.2 |
| USH1C | sensory perception of light stimulus; G2/M transition of mitotic cell cycle; equilibrioception; neuromuscular process controlling balance; sensory perception of sound; parallel actin filament bundle assembly; photoreceptor cell maintenance; inner ear morphogenesis; auditory receptor cell differentiation | 11p14.3 |
| USH2A | inner ear receptor cell differentiation; sensory perception of light stimulus; response to stimulus; maintenance of organ identity; photoreceptor cell maintenance; 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 | protein deubiquitination; monoubiquitinated protein deubiquitination; response to UV; ubiquitin-dependent protein catabolic process; proteolysis; regulation of DNA repair; DNA repair | 1p31.3 |
| USP10 | DNA damage response, signal transduction by p53 class mediator; protein deubiquitination; ubiquitin-dependent protein catabolic process; proteolysis; DNA repair | 16q24.1 |
| USP10P2 | - | 14q11.1 |
| USP11 | ubiquitin-dependent protein catabolic process; protein deubiquitination; proteolysis | Xp11.23 |
| USP12 | protein deubiquitination; protein modification process; proteolysis; ubiquitin-dependent protein catabolic process | 13q12.13 |
| USP12-AS2 | - | - |
| USP13 | proteolysis; ubiquitin-dependent protein catabolic process | 3q26.2-q26.3 |
| USP14 | proteolysis; ubiquitin-dependent protein catabolic process; synaptic transmission; negative regulation of endopeptidase activity; regulation of chemotaxis; regulation of proteasomal protein catabolic process | 18p11.32 |
| USP15 | protein deubiquitination; ubiquitin-dependent protein catabolic process; proteolysis | 12q14 |
| USP16 | cell cycle; proteolysis; positive regulation of transcription, DNA-dependent; protein homotetramerization; ubiquitin-dependent protein catabolic process; chromatin modification; histone deubiquitination; mitosis; cell division | 21q22.11 |
| USP17L22 | - | 4p16.1 |
| USP17L25 | - | 4p16.1 |
| USP17L7 | ubiquitin-dependent protein catabolic process | 8p23.1 |
| USP18 | type I interferon-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway; cytokine-mediated signaling pathway; ubiquitin-dependent protein catabolic process; proteolysis | 22q11.21 |
| USP19 | regulation of cellular response to hypoxia; response to endoplasmic reticulum stress; regulation of protein stability; ER-associated protein catabolic process; protein deubiquitination; negative regulation of skeletal muscle tissue development; skeletal muscle atrophy; ubiquitin-dependent protein catabolic process; proteolysis; positive regulation of cell cycle process | 3p21.31 |
| USP2 | positive regulation of skeletal muscle tissue development; negative regulation of transcription from RNA polymerase II promoter; proteolysis; ubiquitin-dependent protein catabolic process; cell cycle; muscle organ development; protein deubiquitination; positive regulation of mitotic cell cycle; protein stabilization; negative regulation of skeletal muscle tissue development | 11q23.3 |
| USP2-AS1 | - | 11q23 |
| USP20 | ubiquitin-dependent protein catabolic process; endocytosis; proteolysis; regulation of G-protein coupled receptor protein signaling pathway; protein deubiquitination; protein K48-linked deubiquitination; protein K63-linked deubiquitination | 9q34.11 |
| USP21 | proteolysis; protein modification process; chromatin modification; ubiquitin-dependent protein catabolic process; positive regulation of transcription, DNA-dependent; histone deubiquitination | 1q22 |
| USP22 | histone deubiquitination; chromatin modification; histone ubiquitination; embryo development; positive regulation of transcription, DNA-dependent; positive regulation of mitotic cell cycle; cell cycle; protein deubiquitination; ubiquitin-dependent protein catabolic process; proteolysis; histone H4 acetylation | 17p11.2 |
| USP24 | proteolysis; ubiquitin-dependent protein catabolic process | 1p32.3 |
| USP24P1 | - | - |
| USP25 | proteolysis; protein K48-linked deubiquitination; protein K63-linked deubiquitination; ubiquitin-dependent protein catabolic process; protein modification process | 21q11.2 |
| USP27X | proteolysis; ubiquitin-dependent protein catabolic process | Xp11.23 |
| USP27X-AS1 | - | Xp11.23 |
| USP28 | cell proliferation; response to ionizing radiation; protein deubiquitination; cellular response to UV; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; DNA damage checkpoint; DNA repair; proteolysis; response to DNA damage stimulus; ubiquitin-dependent protein catabolic process | 11q23 |
| USP3 | histone deubiquitination; mitotic cell cycle; DNA repair; proteolysis; ubiquitin-dependent protein catabolic process; chromatin modification; regulation of protein stability | 15q22.3 |
| USP3-AS1 | - | 15q22.31 |
| USP30 | ubiquitin-dependent protein catabolic process; proteolysis | 12q24.11 |
| USP30-AS1 | - | 12q24.11 |
| USP31 | ubiquitin-dependent protein catabolic process; proteolysis | 16p12.2 |
| USP32 | ubiquitin-dependent protein catabolic process; protein deubiquitination; proteolysis | 17q23.3 |
| USP32P1 | - | 17p11.2 |
| USP32P2 | - | 17p11.2 |
| USP32P3 | - | 17p11.1 |
| USP33 | endocytosis; protein K63-linked deubiquitination; axon guidance; regulation of G-protein coupled receptor protein signaling pathway; cell migration; protein K48-linked deubiquitination; ubiquitin-dependent protein catabolic process; protein deubiquitination; proteolysis | 1p31.1 |
| USP34 | ubiquitin-dependent protein catabolic process; proteolysis; Wnt receptor signaling pathway; protein K48-linked deubiquitination; positive regulation of canonical Wnt receptor signaling pathway | 2p15 |
| USP35 | proteolysis; ubiquitin-dependent protein catabolic process | 11q14.1 |
| USP36 | ubiquitin-dependent protein catabolic process; proteolysis | 17q25.3 |
| USP37 | cell division; protein K48-linked deubiquitination; mitosis; G1/S transition of mitotic cell cycle; proteolysis; ubiquitin-dependent protein catabolic process; cell cycle; protein K11-linked deubiquitination | 2q35 |
| USP38 | proteolysis; ubiquitin-dependent protein catabolic process | - |
| USP39 | ubiquitin-dependent protein catabolic process; mRNA processing; spliceosome assembly; RNA splicing | 2p11.2 |
| USP4 | proteolysis; ubiquitin-dependent protein catabolic process; protein deubiquitination; regulation of protein stability; protein localization at cell surface; negative regulation of protein ubiquitination | 3p21.3 |
| USP40 | proteolysis; ubiquitin-dependent protein catabolic process | 2q37.1 |
| USP41 | ubiquitin-dependent protein catabolic process; proteolysis | 22q11.21 |
| USP42 | cell differentiation; protein deubiquitination; spermatogenesis; ubiquitin-dependent protein catabolic process; proteolysis | 7p22.1 |
| USP43 | ubiquitin-dependent protein catabolic process; proteolysis | 17p13.1 |
| USP44 | ubiquitin-dependent protein catabolic process; proteolysis; cell cycle; mitosis; protein deubiquitination; cell division; anaphase; negative regulation of mitotic anaphase-promoting complex activity; regulation of spindle checkpoint | 12q22 |
| USP45 | proteolysis; ubiquitin-dependent protein catabolic process | 6q16.2 |
| USP46 | ubiquitin-dependent protein catabolic process; behavior; protein deubiquitination; regulation of synaptic transmission, GABAergic; proteolysis | 4q12 |
| USP46-AS1 | - | 4q12 |
| USP47 | proteolysis; negative regulation of transcription, DNA-dependent; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; response to drug; monoubiquitinated protein deubiquitination; cellular response to UV; positive regulation of cell growth; negative regulation of G2/M transition of mitotic cell cycle; response to DNA damage stimulus; ubiquitin-dependent protein catabolic process; base-excision repair | 11p15.3 |
| USP48 | proteolysis; ubiquitin-dependent protein catabolic process | 1p36.12 |
| USP49 | ubiquitin-dependent protein catabolic process; proteolysis | 6p21 |
| USP5 | protein K48-linked deubiquitination; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; ubiquitin-dependent protein catabolic process; proteolysis | 12p13 |
| USP50 | ubiquitin-dependent protein catabolic process | 15q21.1 |
| USP51 | ubiquitin-dependent protein catabolic process; proteolysis | Xp11.21 |
| USP53 | ubiquitin-dependent protein catabolic process | 4q26 |
| USP54 | ubiquitin-dependent protein catabolic process | 10q22.2 |
| USP6 | regulation of vesicle-mediated transport; protein deubiquitination; ubiquitin-dependent protein catabolic process; proteolysis; protein modification process | 17p13 |
| USP6NL | - | 10p13 |
| USP7 | proteolysis; protein deubiquitination; multicellular organismal development; induction of apoptosis; ubiquitin-dependent protein catabolic process; regulation of protein stability; interspecies interaction between organisms; regulation of sequence-specific DNA binding transcription factor activity | 16p13.3 |
| USP8 | protein K63-linked deubiquitination; protein K48-linked deubiquitination; cell proliferation; Ras protein signal transduction; cell cycle; endosome organization; proteolysis; ubiquitin-dependent protein catabolic process | 15q21.2 |
| USP9X | chromosome segregation; female gamete generation; protein deubiquitination; BMP signaling pathway; cell division; transforming growth factor beta receptor signaling pathway; mitosis; cell cycle; ubiquitin-dependent protein catabolic process; proteolysis | Xp11.4 |
| USP9Y | protein deubiquitination; BMP signaling pathway; 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 | male gonad development; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 10q26 |
| UTP11L | rRNA processing; induction of apoptosis; nerve growth factor receptor signaling pathway; nervous system development | 1p34.3 |
| UTP14A | rRNA processing | Xq26.1 |
| UTP14C | rRNA processing; meiosis; multicellular organismal development; spermatogenesis; cell differentiation | 13q14.2 |
| UTP15 | rRNA processing | 5q13.2 |
| UTP18 | rRNA processing | 17q21.33 |
| UTP20 | rRNA processing; negative regulation of cell proliferation; 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) | 12q23 |
| UTP23 | rRNA processing | 8q24.11 |
| UTP3 | chromatin modification; gene silencing; brain development; multicellular organismal development | 4q13.3 |
| UTP4 | - | 16q22.1 |
| UTP6 | rRNA processing; RNA processing | 17q11.2 |
| UTRN | muscle organ development; muscle contraction; positive regulation of cell-matrix adhesion | 6q24 |
| UTS2 | synaptic transmission; regulation of blood pressure; muscle contraction | 1p36 |
| UTS2B | - | 3q28 |
| UTS2R | positive regulation of fibroblast proliferation; negative regulation of urine volume; negative regulation of renal sodium excretion; response to drug; positive regulation of angiogenesis; negative regulation of blood pressure; positive regulation of blood pressure; positive regulation of vasoconstriction; positive regulation of circadian sleep/wake cycle, REM sleep; positive regulation of cell growth; 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 | positive regulation of autophagy; DNA repair | 11q13.5 |
| UVSSA | - | 4p16.3 |
| UXS1 | cellular metabolic process | 2q12.2 |
| UXT | mitochondrion transport along microtubule; regulation of transcription, DNA-dependent; microtubule cytoskeleton organization; protein folding; centrosome organization; negative regulation of transcription from RNA polymerase II promoter | Xp11.23-p11.22 |
| VAC14 | signal transduction; interspecies interaction between organisms | 16q22.1 |
| VAC14-AS1 | - | 16q22.2 |
| VAMP1 | synaptic transmission; neurotransmitter secretion; vesicle-mediated transport | 12p |
| VAMP2 | energy reserve metabolic process; post-Golgi vesicle-mediated transport; cellular membrane fusion; synaptic transmission; neurotransmitter secretion; glutamate secretion; synaptic vesicle exocytosis; vesicle-mediated transport; calcium ion-dependent exocytosis; regulation of exocytosis; small molecule metabolic process; regulation of insulin secretion; cellular membrane organization | 17p13.1 |
| VAMP3 | positive regulation of receptor recycling; exocytosis; vesicle docking involved in exocytosis; cellular membrane fusion; protein transport; vesicle-mediated transport; calcium ion-dependent exocytosis; substrate adhesion-dependent cell spreading; retrograde transport, endosome to Golgi; protein complex assembly | 1p36.23 |
| VAMP4 | vesicle-mediated transport | 1q24-q25 |
| VAMP5 | muscle organ development; skeletal muscle tissue development; vesicle-mediated transport; cell differentiation; multicellular organismal development | 2p11.2 |
| VAMP7 | post-Golgi vesicle-mediated transport; ER to Golgi vesicle-mediated transport; vesicle fusion; phagocytosis, engulfment; endosome to lysosome transport; protein transport; cellular membrane organization; neutrophil degranulation; eosinophil degranulation; calcium ion-dependent exocytosis; vesicle-mediated transport | Xq28 and Yq12 |
| VAMP8 | vesicle fusion; cellular membrane organization; protein complex assembly; post-Golgi vesicle-mediated transport | 2p12-p11.2 |
| VANGL1 | multicellular organismal development | 1p13.1 |
| VANGL2 | establishment or maintenance of epithelial cell apical/basal polarity; apical protein localization; anterior/posterior pattern specification; wound healing; cell migration involved in kidney development; nonmotile primary cilium assembly; somatic stem cell maintenance; regulation of actin cytoskeleton organization; convergent extension involved in neural plate elongation; establishment of planar polarity; somatic stem cell division; planar cell polarity pathway involved in neural tube closure; establishment of planar polarity involved in neural tube closure; cochlea morphogenesis; lateral sprouting involved in lung morphogenesis; establishment of body hair planar orientation; digestive tract morphogenesis; convergent extension involved in axis elongation; inner ear receptor stereocilium organization; orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis; planar dichotomous subdivision of terminal units involved in lung branching morphogenesis; muscular septum morphogene | 1q22-q23 |
| VAPA | sphingolipid biosynthetic process; protein localization in endoplasmic reticulum; small molecule metabolic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; neuron projection development; cell death; signal transduction; cellular membrane fusion; sphingolipid metabolic process | 18p11.22 |
| VAPB | interspecies interaction between organisms; small molecule metabolic process; positive regulation of viral genome replication; sphingolipid metabolic process; cell death; virus-host interaction; sphingolipid biosynthetic process; endoplasmic reticulum unfolded protein response | 20q13.33 |
| VARS | translational elongation; tRNA aminoacylation for protein translation; valyl-tRNA aminoacylation; gene expression | 6p21.3 |
| VARS2 | tRNA aminoacylation for protein translation; gene expression; valyl-tRNA aminoacylation | 6p21.33 |
| VASH1 | negative regulation of endothelial cell proliferation; cell cycle arrest; cell cycle; negative regulation of blood vessel endothelial cell migration; negative regulation of angiogenesis | 14q24.3 |
| VASH2 | positive regulation of endothelial cell proliferation; positive regulation of angiogenesis | 1q32.3 |
| VASN | - | 16p13.3 |
| VASP | actin cytoskeleton organization; actin polymerization or depolymerization; axon guidance; neural tube closure; cell junction assembly; T cell receptor signaling pathway; protein homotetramerization | 19q13.32 |
| VAT1 | - | 17q21 |
| VAT1L | - | 16q23.1 |
| VAV1 | regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; immune response; positive regulation of cell adhesion; regulation of GTPase activity; T cell activation; T cell costimulation; integrin-mediated signaling pathway; apoptotic process; phagocytosis; regulation of transcription, DNA-dependent; regulation of Rho protein signal transduction; small GTPase mediated signal transduction; blood coagulation; induction of apoptosis by extracellular signals; platelet activation | 19p13.2 |
| VAV2 | regulation of catalytic activity; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; 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; signal transduction; apoptotic process; angiogenesis | 9q34.1 |
| VAV3 | regulation of Rho protein signal transduction; blood coagulation; positive regulation of B cell proliferation; small GTPase mediated signal transduction; response to drug; induction of apoptosis by extracellular signals; cell migration; regulation of catalytic activity; B cell receptor signaling pathway; angiogenesis; regulation of small GTPase mediated signal transduction; integrin-mediated signaling pathway; platelet activation; lamellipodium assembly; positive regulation of GTPase activity; positive regulation of phosphatidylinositol 3-kinase activity; response to DNA damage stimulus; positive regulation of cell adhesion; nerve growth factor receptor signaling pathway; apoptotic process; vesicle fusion | 1p13.3 |
| VAV3-AS1 | - | - |
| VAX1 | multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; neuron migration; negative regulation of neuroblast proliferation; camera-type eye development; cell differentiation; axon guidance; palate development; brain development | 10q26.1 |
| VAX2 | retina development in camera-type eye; axonogenesis; embryonic eye morphogenesis; ectoderm development; multicellular organismal development; visual perception; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; dorsal/ventral axis specification | 2p13 |
| VBP1 | protein folding; cellular protein metabolic process; 'de novo' posttranslational protein folding | Xq28 |
| VCAM1 | embryonic placenta morphogenesis; response to hypoxia; acute inflammatory response; chronic inflammatory response; cell adhesion; heterophilic cell-cell adhesion; leukocyte cell-cell adhesion; heart development; aging; response to nutrient; response to ionizing radiation; cytokine-mediated signaling pathway; membrane to membrane docking; B cell differentiation; positive regulation of T cell proliferation; interspecies interaction between organisms; regulation of immune response; leukocyte tethering or rolling; interferon-gamma-mediated signaling pathway; chorio-allantoic fusion | 1p32-p31 |
| VCAN | cell adhesion; axon regeneration; response to wounding; glial cell migration; cell recognition; heart development; multicellular organismal development | 5q14.3 |
| VCL | cell-matrix adhesion; adherens junction assembly; epithelial cell-cell adhesion; apical junction assembly; protein localization at cell surface; morphogenesis of an epithelium; platelet degranulation; cellular component movement; muscle contraction; cell adhesion; blood coagulation; lamellipodium assembly; platelet activation; regulation of cell migration; negative regulation of cell migration | 10q22.2 |
| VCP | ER to Golgi vesicle-mediated transport; ATP catabolic process; DNA repair; double-strand break repair; transport; activation of cysteine-type endopeptidase activity involved in apoptotic process; response to DNA damage stimulus; aggresome assembly; protein homooligomerization; positive regulation of protein catabolic process; establishment of protein localization; proteasomal ubiquitin-dependent 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 | 9p13.3 |
| VCPIP1 | proteolysis; mitosis; endoplasmic reticulum membrane fusion; protein ubiquitination; Golgi reassembly | 8q13 |
| VCPKMT | - | 14q21.3 |
| VCX | spermatogenesis; chromatin organization; ribosome assembly | Xp22 |
| VCX2 | - | Xp22.32 |
| VCX3A | brain development | Xp22 |
| VCX3B | - | Xp22.31 |
| VCY1B | - | Yq11.21 |
| VDAC1 | learning; behavioral fear response; anion transport; apoptotic process; regulation of ion transmembrane transport; transmembrane transport; interspecies interaction between organisms; regulation of anion transport; neuron-neuron synaptic transmission | 5q31 |
| VDAC1P1 | - | Xq21.1 |
| VDAC1P10 | - | 1q41 |
| VDAC1P11 | - | - |
| VDAC1P2 | - | Xp11.2 |
| VDAC1P5 | - | 12q13.2 |
| VDAC1P6 | - | Yp11.2 |
| VDAC2 | regulation of anion transport; anion transport; transmembrane transport | 10q22 |
| VDAC2P1 | - | 21q11.2 |
| VDAC2P2 | - | 12p13.31 |
| VDAC3 | adenine transport; regulation of anion transport; transmembrane transport | 8p11.2 |
| VDR | positive regulation of transcription from RNA polymerase II promoter; regulation of calcidiol 1-monooxygenase activity; decidualization; negative regulation of transcription, DNA-dependent; positive regulation of keratinocyte differentiation; positive regulation of vitamin D 24-hydroxylase activity; negative regulation of keratinocyte proliferation; gene expression; negative regulation of cell proliferation; signal transduction; cell morphogenesis; negative regulation of transcription from RNA polymerase II promoter; vitamin D receptor signaling pathway; positive regulation of gene expression | 12q13.11 |
| VEGFA | regulation of cell shape; in utero embryonic development; response to cold; positive regulation of endothelial cell migration; positive regulation of intracellular protein kinase cascade; platelet activation; monocyte differentiation; macrophage differentiation; positive regulation of cell migration; epithelial cell differentiation; positive regulation of vascular endothelial growth factor receptor signaling pathway; post-embryonic camera-type eye development; positive regulation of protein autophosphorylation; activation of protein kinase activity; artery morphogenesis; positive regulation of mast cell chemotaxis; mammary gland alveolus development; primitive erythrocyte differentiation; positive regulation of cell division; positive regulation of cellular component movement; induction of positive chemotaxis; positive regulation of positive chemotaxis; positive chemotaxis; positive regulation of peptidyl-tyrosine phosphorylation; cellular response to hypoxia; cardiac muscle fiber development; positive regula | 6p12 |
| VEGFB | positive chemotaxis; positive regulation of mast cell chemotaxis; coronary vasculature development; positive regulation of ERK1 and ERK2 cascade; cardiac muscle contraction; positive regulation of protein kinase B signaling cascade; positive regulation of cell division; induction of positive chemotaxis; positive regulation of peptidyl-tyrosine phosphorylation; vascular endothelial growth factor receptor signaling pathway; negative regulation of neuron apoptosis; positive regulation of vascular wound healing; positive regulation of vascular endothelial growth factor receptor signaling pathway; positive regulation of vascular permeability; platelet activation; negative regulation of gene expression; blood coagulation; anti-apoptosis; positive regulation of endothelial cell proliferation; platelet degranulation; protein O-linked glycosylation | 11q13 |
| VEGFC | platelet activation; cell differentiation; morphogenesis of embryonic epithelium; organ morphogenesis; positive regulation of cell proliferation; blood coagulation; negative regulation of blood pressure; multicellular organismal development; regulation of vascular endothelial growth factor receptor signaling pathway; positive regulation of protein autophosphorylation; response to drug; positive regulation of blood vessel endothelial cell migration; 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; substrate-dependent cell migration; platelet degranulation; positive regulation of neuroblast proliferation; angiogenesis; signal transduction | 4q34.3 |
| VENTXP2 | - | 13q31.1 |
| VENTXP6 | - | 8q21.11 |
| VEPH1 | - | 3q24-q25 |
| VEZF1 | endothelial cell development; angiogenesis; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; cellular defense response | 17q22 |
| VEZF1P1 | - | 3q29 |
| VEZT | chordate embryonic development; cell-cell adhesion | 12q22 |
| VGF | penile erection; response to insulin stimulus; insulin secretion; sexual reproduction; response to cold; generation of precursor metabolites and energy; response to dietary excess; ovarian follicle development; glucose homeostasis; regulation of neuronal synaptic plasticity; response to cAMP | 7q22.1 |
| VGLL1 | regulation of transcription, DNA-dependent | Xq26.3 |
| VGLL2 | regulation of transcription, DNA-dependent; skeletal muscle tissue development; 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 | proteolysis; negative regulation of cell proliferation; protein stabilization; response to stress; anti-apoptosis; regulation of catecholamine metabolic process; positive regulation of transcription, DNA-dependent; cell morphogenesis; positive regulation of cell differentiation; response to ethanol; blood vessel endothelial cell migration; protein ubiquitination; protein catabolic process; neuron differentiation; extracellular matrix organization; response to hypoxia; angiogenesis; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 3p25.3 |
| VHLL | protein ubiquitination | 1q22 |
| VIL1 | regulation of actin nucleation; actin filament severing; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; cellular response to hepatocyte growth factor stimulus; positive regulation of actin filament bundle assembly; positive regulation of cell migration; actin filament depolymerization; actin filament polymerization; negative regulation of endopeptidase activity; positive regulation of epithelial cell migration; response to bacterium; regulation of cell shape; epidermal growth factor receptor signaling pathway; cytoskeleton organization; protein complex assembly; actin filament capping; cytoplasmic actin-based contraction involved in cell motility; regulation of wound healing; cellular response to epidermal growth factor stimulus; regulation of lamellipodium morphogenesis | 2q35 |
| VILL | actin filament capping; cytoskeleton organization | 3p21.3 |
| VIM | apoptotic process; cellular component disassembly involved in apoptosis; muscle filament sliding; cellular component movement; interspecies interaction between organisms | 10p13 |
| VIM-AS1 | - | - |
| VIMP | - | 15q26.3 |
| VIP | positive regulation of cell proliferation; body fluid secretion; G-protein coupled receptor signaling pathway | 6q25 |
| VIPAS39 | - | 14q24.3-q31 |
| VIPR1 | digestion; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor signaling pathway; immune response; muscle contraction; synaptic transmission; 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; regulation of blood coagulation; response to organic nitrogen; drug metabolic process; vitamin K metabolic process; peptidyl-glutamic acid carboxylation; post-translational protein modification; positive regulation of coagulation; cellular protein metabolic process; response to antibiotic | 16p11.2 |
| VKORC1L1 | - | 7q11.21 |
| VLDLR | signal transduction; nervous system development; glycoprotein transport; heart development; response to nutrient; memory; steroid metabolic process; cholesterol metabolic process; response to hormone stimulus; ventral spinal cord development; cerebral cortex development; cellular response to insulin stimulus; receptor-mediated endocytosis; lipid transport; transport; very-low-density lipoprotein particle clearance; cellular response to glucose starvation; response to drug; positive regulation of protein kinase activity; cellular response to lipopolysaccharide; cellular response to interleukin-1; cellular response to hypoxia | 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 junction assembly; cell-cell adhesion | 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; acute 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; nitrogen compound metabolic process | 6q23-q24 |
| VNN2 | pantothenate metabolic process; cellular component movement; nitrogen compound metabolic process | 6q23-q24 |
| VNN3 | nitrogen compound metabolic process | 6q23.2 |
| VOPP1 | regulation of transcription, DNA-dependent; signal transduction | 7p11.2 |
| VPRBP | interspecies interaction between organisms | 3p21.2 |
| VPREB1 | immune response | 22q11.22 |
| VPS11 | vesicle-mediated transport; intracellular protein transport | 11q23 |
| VPS13A | protein transport; Golgi to endosome transport; nervous system development; locomotory behavior; protein localization; social behavior | 9q21 |
| VPS13A-AS1 | - | 9q21.2 |
| VPS13B | protein transport; protein localization | 8q22.2 |
| VPS13C | protein localization | 15q22.2 |
| VPS13D | protein localization | 1p36.22 |
| VPS16 | intracellular protein transport | 20p13 |
| VPS18 | endosome organization; lysosome organization; vesicle-mediated transport; intracellular protein transport | 15q14-q15 |
| VPS25 | cellular membrane organization; protein transport; regulation of transcription, DNA-dependent; endosome transport | 17q21.31 |
| VPS25P1 | - | 1p12 |
| VPS26A | vacuolar transport; protein transport; retrograde transport, endosome to Golgi | 10q21.1 |
| VPS26B | protein transport; vacuolar transport | 11q25 |
| VPS28 | viral reproduction; egress of virus within host cell; protein transport; cellular membrane organization; endosome transport; negative regulation of protein ubiquitination | 8q24.3 |
| VPS29 | protein transport | 12q24 |
| VPS33A | protein transport; vesicle docking involved in exocytosis; melanosome localization; vesicle-mediated transport; platelet formation; regulation of developmental pigmentation; pigmentation; lysosome localization | 12q24.31 |
| VPS33B | platelet alpha granule organization; vesicle docking involved in exocytosis; lysosome localization; melanosome localization; vesicle-mediated transport; cellular membrane fusion; protein transport | 15q26.1 |
| VPS35 | retrograde transport, endosome to Golgi; protein transport; cell death | 16q12 |
| VPS36 | endosome transport; cellular membrane organization; protein transport; regulation of transcription, DNA-dependent | 13q14.3 |
| VPS37A | endosome transport; protein transport; cellular membrane organization; egress of virus within host cell; viral reproduction | 8p22 |
| VPS37B | viral reproduction; cellular membrane organization; protein transport; endosome transport; egress of virus within host cell | 12q24.31 |
| VPS37C | egress of virus within host cell; cellular membrane organization; endosome transport; protein transport; viral reproduction | 11q12.2 |
| VPS37D | endosome transport; viral reproduction; protein transport; cellular membrane organization; egress of virus within host cell | 7q11.23 |
| VPS39 | protein transport | 15q15.1 |
| VPS41 | Golgi vesicle transport; vesicle-mediated transport; intracellular protein transport | 7p14-p13 |
| VPS45 | intracellular protein transport; vesicle-mediated transport; vesicle docking involved in exocytosis; blood coagulation | 1q21.2 |
| VPS4A | protein transport; cell cycle; cytokinesis; cellular membrane organization; vesicle-mediated transport; endosome transport | 16q22.1 |
| VPS4B | cell division; endosome to lysosome transport via multivesicular body sorting pathway; endosome organization; cell cycle; protein transport; cellular membrane organization; endosome transport; potassium ion transport; intracellular cholesterol transport; response to lipid; ATP catabolic process | 18q21.33 |
| VPS50 | - | 7q21.3 |
| VPS51 | - | 11q13 |
| VPS52 | protein transport | 6p21.3 |
| VPS53 | protein transport | 17p13.3 |
| VPS54 | protein transport; growth; retrograde transport, endosome to Golgi; homeostasis of number of cells within a tissue; musculoskeletal movement; neurofilament cytoskeleton organization | 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 | protein phosphorylation; cell cycle; mitosis; protein autophosphorylation; cell division; Golgi disassembly | 14q32 |
| VRK2 | protein phosphorylation; response to oxidative stress; regulation of MAPK cascade; 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 | negative regulation of T cell proliferation; negative regulation of interleukin-2 production; complement activation, alternative pathway | 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 | response to stimulus; neuron maturation; visual perception; retinal bipolar neuron differentiation; multicellular organismal development; regulation of transcription, DNA-dependent | 20p11.21 |
| VSX2 | multicellular organismal development; visual perception; positive regulation of cell proliferation; negative regulation of cell proliferation; camera-type eye development; cell fate commitment; positive regulation of transcription from RNA polymerase II promoter; response to stimulus; retinal bipolar neuron differentiation | 14q24.3 |
| VTA1 | endosome transport; protein transport; cellular membrane organization | 6q24.1 |
| VTCN1 | negative regulation of T cell activation | 1p13.1 |
| VTI1A | vesicle fusion with Golgi apparatus; retrograde transport, endosome to Golgi; vesicle-mediated transport; ER to Golgi vesicle-mediated transport; intracellular protein transport | 10q25.2 |
| VTI1B | intracellular protein transport; cell proliferation; vesicle docking involved in exocytosis; cellular membrane fusion; 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 | blood coagulation; blood coagulation, intrinsic pathway; cell-substrate adhesion; hemostasis; response to wounding; platelet activation; cell adhesion; platelet degranulation; placenta development; liver development; protein homooligomerization | 12p13.3 |
| WAC | histone monoubiquitination; cell cycle checkpoint; response to DNA damage stimulus; positive regulation of transcription, DNA-dependent; chromatin modification; histone H2B conserved C-terminal lysine ubiquitination | 10p12.1|10p12.1-p11.2 |
| WAC-AS1 | - | 10p11.23 |
| WAPL | cell cycle; mitosis; negative regulation of DNA replication; response to toxin; negative regulation of chromatin binding; interspecies interaction between organisms; negative regulation of sister chromatid cohesion; cell division; regulation of cohesin localization to chromatin; protein localization to chromatin | 10q23.2 |
| WARS | gene expression; tRNA aminoacylation for protein translation; tryptophanyl-tRNA aminoacylation; negative regulation of cell proliferation; translation; regulation of angiogenesis | 14q32.31 |
| WARS2 | gene expression; tryptophanyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; vasculogenesis | 1p12 |
| WARS2-IT1 | - | 1p12 |
| WAS | actin polymerization or depolymerization; endosome transport; epidermis development; T cell receptor signaling pathway; actin filament polymerization; actin filament-based movement; T cell activation; blood coagulation; immune response; defense response; protein complex assembly | Xp11.4-p11.21 |
| WASF1 | actin filament polymerization; cellular component movement; protein complex assembly | 6q21 |
| WASF2 | lamellipodium assembly; actin cytoskeleton organization; Rac protein signal transduction; actin filament-based movement; G-protein signaling, coupled to cAMP nucleotide second messenger; endocytosis; ameboidal cell migration; angiogenesis | 1p36.11 |
| WASF3 | protein complex assembly; cytoskeleton organization; regulation of cell shape; 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; transport; endosome transport; Arp2/3 complex-mediated actin nucleation | 15q26.3 |
| WASH5P | - | 19p13.3 |
| WASH6P | retrograde transport, endosome to Golgi; Arp2/3 complex-mediated actin nucleation; transport; endosome transport | Xq28;Yq12 |
| WASH7P | - | 1p36.33 |
| WASL | regulation of transcription, DNA-dependent; axon guidance; protein complex assembly; response to bacterium; cellular component movement; regulation of nitric-oxide synthase activity; nitric oxide metabolic process; actin polymerization or depolymerization; small molecule metabolic process | 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; egg activation; male pronucleus assembly | 22q13.2 |
| WBP4 | nuclear mRNA cis splicing, via spliceosome; mRNA processing; RNA splicing | 13q14.11 |
| WBP5 | - | Xq22.2 |
| WBSCR16 | - | 7q11.23 |
| WBSCR17 | - | 7q11.23 |
| WBSCR22 | methylation; metabolic process | - |
| 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 protein localization; cell projection organization; regulation of embryonic cell shape; septin cytoskeleton organization; cilium morphogenesis | 2p15 |
| WDR1 | platelet degranulation; blood coagulation; sensory perception of sound; platelet activation | 4p16.1 |
| WDR11 | - | 10q26 |
| WDR11-AS1 | - | 10q26.13 |
| WDR12 | rRNA processing; 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); ribosomal large subunit biogenesis; Notch signaling pathway; cell proliferation | 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 | cell projection organization; cilium assembly | 2p24.1 |
| WDR36 | rRNA processing; visual perception; response to stimulus | 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 | autophagy; response to starvation | 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 acetylation; skeletal system development; regulation of transcription, DNA-dependent; chromatin modification; histone H3-K4 methylation; histone H4-K16 acetylation; histone H4-K8 acetylation; histone H4-K5 acetylation | 9q34 |
| WDR53 | - | 3q29 |
| WDR54 | - | 2p13.1 |
| WDR55 | rRNA processing | 5q31.3 |
| WDR59 | - | 16q23.1 |
| WDR5B | - | 3q21.1 |
| WDR6 | cell cycle arrest; negative regulation of cell proliferation; cell cycle | 3p21.31 |
| WDR60 | - | 7q36.3 |
| WDR61 | - | 15q25.1 |
| WDR62 | neurogenesis; cerebral cortex development | 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 | nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions | 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 | apoptotic process; histone lysine methylation | 2p14 |
| WDR93 | electron transport chain | 15q26.1 |
| WDR97 | - | 8q24.3 |
| WDSUB1 | - | 2q24.2 |
| WDTC1 | - | 1p36.11 |
| WDYHV1 | protein modification process | 8q24.13 |
| WEE1 | mitotic cell cycle; G2/M transition of mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; cell cycle checkpoint; regulation of cell cycle; cell division; establishment of cell polarity; microtubule cytoskeleton organization; neuron projection morphogenesis; mitosis; blood coagulation; peptidyl-tyrosine phosphorylation | 11p15.3-p15.1 |
| WEE2-AS1 | - | 7q34 |
| WFDC1 | negative regulation of epithelial cell proliferation; response to drug; response to estradiol stimulus; negative regulation of cell growth | 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 apoptotic process; negative regulation of programmed cell death; 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; glucose homeostasis; response to endoplasmic reticulum stress; endoplasmic reticulum calcium ion homeostasis; positive regulation of protein ubiquitination; regulation of apoptotic process; endoplasmic reticulum unfolded protein response; ER-associated protein catabolic process; protein maturation by protein folding; sensory perception of sound; visual perception; activation of signaling protein activity involved in unfolded protein response; ER overload response; renal water homeostasis; kidney development | 4p16.1 |
| WHAMM | - | 15q25.2 |
| WHAMMP1 | - | 15q13.3 |
| WHAMMP2 | - | 15q13.1 |
| WHAMMP3 | - | 15q11.2 |
| WHSC1 | chromatin modification; anatomical structure morphogenesis; regulation of transcription, DNA-dependent | 4p16.3 |
| WHSC1L1 | chromatin modification; histone lysine methylation; cell growth; regulation of transcription, DNA-dependent; cell differentiation; histone methylation | 8p11.2 |
| WI2-2373I1.2 | - | 7p22.3 |
| WIF1 | Wnt receptor signaling pathway; positive regulation of fat cell differentiation; signal transduction; multicellular organismal development | 12q14.3 |
| WIPF1 | actin cytoskeleton organization; protein complex assembly; actin polymerization or depolymerization; positive regulation of protein export from nucleus; actin filament-based movement | 2q31.1 |
| WIPF2 | - | 17q21.2 |
| WIPF3 | multicellular organismal development; spermatogenesis; cell differentiation | 7p14.3 |
| WIPI1 | macroautophagy; endoplasmic reticulum unfolded protein response; vesicle targeting, trans-Golgi to endosome; activation of signaling protein activity involved in unfolded protein response; autophagy | 17q24.2 |
| WIPI2 | autophagic vacuole assembly; autophagic vacuole fusion; autophagy | 7p22.1 |
| WISP1 | regulation of cell growth; cell adhesion; signal transduction; cell-cell signaling; Wnt receptor signaling pathway | 8q24.22 |
| WISP2 | negative regulation of cell proliferation; cell-cell signaling; signal transduction; cell adhesion; regulation of cell growth | 20q13.12 |
| WISP3 | regulation of cell growth; signal transduction; cell-cell signaling | 6q21 |
| WIZ | - | 19p13.1 |
| WLS | multicellular organismal development; Wnt receptor signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of canonical Wnt receptor signaling pathway | 1p31.3 |
| WNK1 | regulation of cellular process; neuron development; protein phosphorylation; negative regulation of phosphatase activity; ion transport; intracellular protein kinase cascade | 12p13.3 |
| WNK2 | protein autophosphorylation; negative regulation of ERK1 and ERK2 cascade; negative regulation of cell proliferation; intracellular protein kinase cascade; regulation of ion homeostasis; protein phosphorylation; positive regulation of sodium ion transmembrane transporter activity | 9q22.3 |
| WNK3 | intracellular protein kinase cascade; anti-apoptosis; protein phosphorylation; positive regulation of peptidyl-threonine phosphorylation; positive regulation of sodium ion transport; positive regulation of ion transmembrane transporter activity; positive regulation of establishment of protein localization in plasma membrane; sodium ion export; regulation of ion homeostasis; positive regulation of sodium ion transmembrane transporter activity; positive regulation of rubidium ion transport; positive regulation of calcium ion transport; protein autophosphorylation; positive regulation of rubidium ion transmembrane transporter activity; rubidium ion transport | Xp11.22 |
| WNK4 | ion transport; protein phosphorylation; chloride transport; intracellular protein kinase cascade; protein localization; regulation of cellular process | 17q21-q22 |
| WNT1 | negative regulation of cell-substrate adhesion; Spemann organizer formation; canonical Wnt receptor signaling pathway; positive regulation of dermatome development; hepatocyte differentiation; cellular response to peptide hormone stimulus; hemopoietic stem cell proliferation; negative regulation of cell aging; negative regulation of DNA damage checkpoint; negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; diencephalon development; spinal cord association neuron differentiation; embryonic axis specification; Wnt receptor signaling pathway; cerebellum morphogenesis; positive regulation of lamellipodium assembly; embryonic pattern specification; 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; r | 12q13 |
| WNT10A | hair follicle development; hair follicle morphogenesis; skin development; epidermis morphogenesis; multicellular organismal development; female gonad development; neural crest cell differentiation; canonical Wnt receptor signaling pathway; positive regulation of gene expression; anterior/posterior pattern specification; odontogenesis; tongue development; cellular response to transforming growth factor beta stimulus; sebaceous gland development; regulation of odontogenesis of dentin-containing tooth; axis specification | 2q35 |
| WNT10B | protein stabilization; multicellular organismal development; negative regulation of epithelial cell proliferation; skeletal muscle fiber development; sensory perception of taste; regulation of proteasomal ubiquitin-dependent protein catabolic process; regulation of skeletal muscle tissue development; positive regulation of RNA polymerase II transcriptional preinitiation complex assembly; positive regulation of osteoblast differentiation; negative regulation of fat cell differentiation; tongue development; positive regulation of apoptotic process; 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 t | 12q13 |
| WNT11 | 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; neuron differentiation; embryonic skeletal system development; Wnt receptor signaling pathway; non-canonical Wnt receptor signaling pathway; positive regulation of apoptotic process; negative regulation of apoptotic process; negative regulation of transcription, DNA-dependent; mesonephric duct development; negative regulation of mesenchymal cell proliferation; positive regulation of protein kinase C signaling cascade; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of fibroblast growth factor production; positive regulation of transcription, DNA-dependent; neuroendocrine cell differentiation; artery morphogenesis; positive regulation of stress fiber assembly; palate | 11q13.5 |
| WNT16 | keratinocyte differentiation; cardiac epithelial to mesenchymal transition; canonical Wnt receptor signaling pathway; positive regulation of JNK cascade; keratinocyte proliferation; negative regulation of cell death; positive regulation of gene expression; oxidative stress-induced premature senescence; positive regulation of phosphatidylinositol 3-kinase cascade; replicative senescence; optic cup formation involved in camera-type eye development; multicellular organismal development; axonogenesis; axis specification; anterior/posterior pattern specification | 7q31 |
| WNT2 | cellular response to retinoic acid; cellular response to transforming growth factor beta stimulus; dorsal/ventral axis specification; positive regulation of cell proliferation; multicellular organismal development; cell-cell signaling; positive regulation of canonical Wnt receptor signaling pathway; signal transduction; lens development in camera-type eye; positive regulation of mesenchymal cell proliferation; positive regulation of endothelial cell proliferation; Wnt receptor signaling pathway; neuron differentiation; lung development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of fibroblast proliferation; positive regulation of sequence-specific DNA binding transcription factor activity; atrial cardiac muscle tissue morphogenesis; 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 mo | 7q31.2 |
| WNT2B | male gonad development; positive regulation of canonical Wnt receptor signaling pathway; positive regulation of branching involved in ureteric bud morphogenesis; hemopoietic stem cell proliferation; cornea development in camera-type eye; iris morphogenesis; mesenchymal-epithelial cell signaling; lung induction; neuron differentiation; forebrain regionalization; Wnt receptor signaling pathway; dorsal/ventral axis specification; multicellular organismal development; Wnt receptor signaling pathway, calcium modulating pathway; lens development in camera-type eye; chondrocyte differentiation | 1p13 |
| WNT3 | multicellular organismal development; cell morphogenesis; hemopoietic stem cell proliferation; cellular response to retinoic acid; mammary gland epithelium development; head morphogenesis; limb bud formation; limb development; canonical Wnt receptor signaling pathway; 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 differentiation; canonical Wnt receptor signaling pathway involved in osteoblast differentiation; canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation; inner ear morphogenesis; embryonic forelimb morphogenesis; embryonic hindlimb morphogenesis; mesoderm formation; signal transduction; Wnt receptor signaling pathway, calcium modulating pathway; axon guidance; positive regulation of cell proliferation; anterior/posterior axis specification; dorsal/ventral axis specification; pos | 17q21 |
| WNT4 | epithelial to mesenchymal transition; embryonic epithelial tube formation; kidney development; renal vesicle induction; mesonephros development; thyroid-stimulating hormone-secreting cell differentiation; liver development; somatotropin secreting cell differentiation; branching involved in ureteric bud morphogenesis; mesenchymal to epithelial transition; tertiary branching involved in mammary gland duct morphogenesis; mammary gland epithelium development; positive regulation of dermatome development; paramesonephric duct development; metanephros development; negative regulation of testicular blood vessel morphogenesis; cellular response to estradiol stimulus; establishment of protein localization in plasma membrane; metanephric nephron morphogenesis; cellular response to hydrostatic pressure; cellular response to transforming growth factor beta stimulus; renal vesicle formation; negative regulation of cell differentiation; negative regulation of transcription, DNA-dependent; negative regulation of testosteron | 1p36.23-p35.1 |
| WNT5A | 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; positive regulation of endothelial cell migration; response to organic substance; dorsal/ventral axis specification; negative regulation of BMP signaling pathway; positive regulation of cGMP metabolic process; prostate gland development; 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 chemotaxis; negative regulation of fibroblast growth factor receptor signaling pathway; pericardium morphogenesis; act | 3p21-p14 |
| WNT5A-AS1 | - | - |
| WNT5B | respiratory system development; negative regulation of canonical Wnt receptor signaling pathway; cellular response to retinoic acid; lens fiber cell development; angiogenesis; chondrocyte differentiation; Wnt receptor signaling pathway, calcium modulating pathway; multicellular organismal development; dorsal/ventral axis specification; anterior/posterior pattern specification; Wnt receptor signaling pathway; neuron differentiation; positive regulation of cell migration; endocrine pancreas development; cell migration involved in gastrulation; fat cell differentiation; positive regulation of fat cell differentiation; convergent extension involved in gastrulation; convergent extension involved in axis elongation | 12p13.3 |
| WNT6 | cornea development in camera-type eye; positive regulation of tooth mineralization; cellular response to retinoic acid; nephron tubule formation; nephron tubule development; cell-cell signaling; branching involved in ureteric bud morphogenesis; positive regulation of transcription, DNA-dependent; branching morphogenesis of a tube; canonical Wnt receptor signaling pathway; epithelial-mesenchymal cell signaling; odontogenesis of dentin-containing tooth; neuron differentiation; positive regulation of gene expression; anterior/posterior pattern specification; axis specification; multicellular organismal development | 2q35 |
| WNT7A | negative regulation of neurogenesis; skin morphogenesis; response to estrogen stimulus; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of JNK cascade; somatic stem cell division; skeletal system morphogenesis; stem cell development; negative regulation of apoptotic process; synapse organization; cartilage development; positive regulation of synapse assembly; palate development; positive regulation of epithelial cell proliferation involved in wound healing; uterus development; oviduct development; canonical Wnt receptor signaling pathway; limb development; uterus morphogenesis; lens fiber cell development; cellular response to transforming growth factor beta stimulus; positive regulation of canonical Wnt receptor signaling pathway; regulation of cell proliferation; embryonic digit morphogenesis; embryonic axis specification; skeletal system development; signal transduction; activation of JUN kinase activity; neurotr | 3p25 |
| WNT7B | central nervous system vasculogenesis; neuron differentiation; lung development; oxygen homeostasis; odontogenesis of dentin-containing tooth; odontogenesis; 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; negative regulation of neurogenesis; synapse organization; smooth muscle cell differentiation; axonogenesis; homeostatic process; in utero embryonic development; vasculature development; metanephros morphogenesis; induction of apoptosis; activation of JUN kinase activity; cell-cell signaling; multicellular organismal development; forebrain regionalization; positive regulation of cell proliferation; axis specification; anterior/posterior pattern specification; positive regulation of gene expression; Wnt receptor signaling pathway; establishment or maintenance of polarity of embryonic epithelium; cell proliferation | 22q13 |
| WNT8A | neural plate pattern specification; multicellular organismal development; somitogenesis; mesodermal cell fate commitment; eye development; ectoderm development; endoderm development; polarity specification of anterior/posterior axis; dorsal/ventral pattern formation; polarity specification of proximal/distal axis; neural crest cell fate commitment; spinal cord anterior/posterior patterning; hindbrain development; canonical Wnt receptor signaling pathway; palate development; positive regulation of fibroblast growth factor receptor signaling pathway; canonical Wnt receptor signaling pathway involved in neural crest cell differentiation; regulation of transcription involved in anterior/posterior axis specification; cell migration involved in gastrulation; brain segmentation; tail morphogenesis; response to retinoic acid; notochord development; negative regulation of Wnt receptor signaling pathway | 5q31 |
| WNT8B | canonical Wnt receptor signaling pathway; 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; cellular response to retinoic acid; Wnt receptor signaling pathway involved in forebrain neuron fate commitment; hypothalamus development; negative regulation of gene expression; 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 | multicellular organismal development; cell-cell signaling; embryonic skeletal joint development; cellular response to retinoic acid; cornea development in camera-type eye; iris morphogenesis; canonical Wnt receptor signaling pathway; embryonic skeletal system morphogenesis; positive regulation of smoothened signaling pathway; negative regulation of chondrocyte differentiation; mitotic cell cycle G1/S transition checkpoint; neuron differentiation; anterior/posterior pattern specification; axis specification; negative regulation of cell proliferation; endoderm development; embryonic arm morphogenesis | 1q42 |
| WNT9B | embryonic skeletal system morphogenesis; palate development; canonical Wnt receptor signaling pathway; Wnt receptor signaling pathway, planar cell polarity pathway; uterus morphogenesis; cornea development in camera-type eye; cellular response to retinoic acid; kidney rudiment formation; collecting duct development; establishment of planar polarity involved in nephron morphogenesis; nephron tubule morphogenesis; mesonephric tubule development; metanephric tubule development; mesonephric duct formation; male genitalia development; embryonic cranial skeleton morphogenesis; positive regulation of catalytic activity; regulation of tube size; response to retinoic acid; neuron differentiation; Wnt receptor signaling pathway; anterior/posterior pattern specification; axis specification; regulation of asymmetric cell division; endoderm development; multicellular organismal development; cell-cell signaling; regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; regulation of protein | 17q21 |
| WRAP53 | telomere formation via telomerase; positive regulation of telomerase activity | 17p13.1 |
| WRAP73 | - | 1p36.3 |
| WRB | - | 21q22.3 |
| WRN | nucleobase-containing compound metabolic process; positive regulation of hydrolase activity; cellular metabolic process; 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; response to oxidative stress; aging; replicative cell aging; DNA synthesis involved in DNA repair; telomere maintenance; ATP catabolic process; DNA metabolic process; DNA replication; base-excision repair; DNA recombination; response to DNA damage stimulus | 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 metanephric glomerular mesangial cell proliferation; positive regulation of male gonad development; negative regulation of female gonad development; positive regulation of metanephric ureteric bud development; regulation of transcription, DNA-dependent; regulation of organ formation; mesonephros development; kidney development; branching involved in ureteric bud morphogenesis; ureteric bud development; vasculogenesis; negative regulation of transcription from RNA polymerase II promoter; metanephric S-shaped body morphogenesis; negative regulation of cell proliferation; glomerular basement membrane development; glomerulus development; regulation of transcription from RNA polymerase II promoter; induction of apoptosis; germ cell development; thorax and anterior abdomen determination; heart development; sex determination; adrenal cortex formation; RNA splicing; gonad development; male gonad development; tissue development; negative regulation of translation; negative regulation of cell gro | 11p13 |
| WT1-AS | - | 11p13 |
| WTAP | mRNA processing; RNA splicing; cell cycle | 6q25-q27 |
| WTAPP1 | - | 11q22.2 |
| WTH3DI | - | 2q21.1 |
| WTIP | cytoskeleton organization; gene silencing by miRNA; regulation of transcription, DNA-dependent; regulation of cell morphogenesis | 19q13.11 |
| WWC1 | regulation of hippo signaling cascade; cell migration; regulation of transcription, DNA-dependent; positive regulation of MAPK cascade | 5q34 |
| WWC2 | - | 4q35.1 |
| WWC2-AS2 | - | 4q35.1 |
| WWC3 | - | Xp22.32 |
| WWC3-AS1 | - | - |
| WWOX | positive regulation of apoptotic process; cellular response to transforming growth factor beta stimulus; oxidation-reduction process; skeletal system morphogenesis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of Wnt receptor signaling pathway; steroid metabolic process; induction of apoptosis; osteoblast differentiation | 16q23.3-q24.1 |
| WWP1 | interspecies interaction between organisms; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; negative regulation of transcription, DNA-dependent; entry of virus into host cell; central nervous system development; protein ubiquitination; protein modification process; signal transduction | 8q21 |
| WWP2 | negative regulation of sequence-specific DNA binding transcription factor activity; interspecies interaction between organisms; proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; negative regulation of transporter activity; protein ubiquitination; negative regulation of gene expression; protein modification process; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; entry of virus into host cell; negative regulation of protein transport; protein K63-linked ubiquitination | 16q22.1 |
| WWTR1 | stem cell division; glomerulus development; positive regulation of epithelial to mesenchymal transition; positive regulation of cell proliferation; negative regulation of protein kinase activity; hippo signaling cascade; negative regulation of catenin import into nucleus; regulation of transcription, DNA-dependent; negative regulation of protein phosphorylation; osteoblast differentiation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of fat cell differentiation; positive regulation of transcription from RNA polymerase II promoter; cilium morphogenesis; regulation of SMAD protein import into nucleus; negative regulation of canonical Wnt receptor signaling pathway | 3q23-q24 |
| WWTR1-AS1 | - | 3q25.1 |
| XAB2 | nuclear mRNA splicing, via spliceosome; blastocyst development; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; RNA splicing; transcription, DNA-dependent | 19p13.2 |
| XAF1 | apoptotic process; cytokine-mediated signaling pathway; type I interferon-mediated signaling pathway | 17p13.1 |
| XAGE-4 | - | Xp11.21 |
| XAGE1D | - | Xp11.22 |
| XAGE2 | - | Xp11.22 |
| XAGE2B | - | Xp11.22 |
| XAGE3 | - | Xp11.22 |
| XAGE5 | - | Xp11.22 |
| XBP1 | serotonin secretion, neurotransmission; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; response to electrical stimulus; immune response; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response; exocrine pancreas development; response to drug; positive regulation of endoplasmic reticulum unfolded protein response; epithelial cell maturation involved in salivary gland development | 22q12.1|22q12 |
| XBP1P1 | - | 5q22.2 |
| XCL1 | positive regulation of thymocyte migration; signal transduction; positive regulation of B cell chemotaxis; positive regulation of T cell chemotaxis; response to virus; cell-cell signaling; negative regulation of T-helper 1 cell activation; immune response; positive regulation of granzyme A production; positive regulation of natural killer cell chemotaxis; positive regulation of neutrophil chemotaxis; 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; positive regulation of transforming growth factor beta production; positive regulation of granzyme B production; negative regulation of interferon-gamma production; regulation of inflammatory response; lymphocyte chemotaxis; negative regulation of transcription, DNA-dependent; release of sequestered calciu | 1q23 |
| XCL2 | chemotaxis; immune response; signal transduction; blood circulation | 1q24.2 |
| XDH | small molecule metabolic process; purine base metabolic process; purine nucleotide catabolic process; lactation; xanthine catabolic process; nucleobase-containing small molecule metabolic process; regulation of epithelial cell differentiation | 2p23.1 |
| XG | - | Xp22.33 |
| XGY2 | - | Yp11.31 |
| XIAP | regulation of BMP signaling pathway; anti-apoptosis; apoptotic process; regulation of nucleotide-binding oligomerization domain containing signaling pathway; positive regulation of canonical Wnt receptor signaling pathway; response to DNA damage stimulus; copper ion homeostasis; regulation of inflammatory response; regulation of innate immune response; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of cell proliferation; induction of apoptosis by intracellular signals | Xq25 |
| XIRP1 | cardiac muscle cell development; sarcomere organization; negative regulation of cell proliferation; actin cytoskeleton organization; regulation of membrane potential | 3p22.2 |
| XIRP2 | actin cytoskeleton organization | 2q24.3 |
| XIRP2-AS1 | - | - |
| XIST | - | Xq13.2 |
| XK | amino acid transport; 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 | DNA repair; response to toxin; response to UV; DNA damage response, signal transduction resulting in induction of apoptosis; response to oxidative stress; nucleotide-excision repair; nucleotide-excision repair, DNA damage removal | 9q22.3 |
| XPC | cell cycle checkpoint; intra-S DNA damage checkpoint; response to UV-B; nucleotide-excision repair, DNA damage recognition; nucleotide-excision repair, DNA damage removal; DNA repair; nucleotide-excision repair; response to drug | 3p25 |
| XPNPEP1 | proteolysis; bradykinin catabolic process; cellular process | 10q25.3 |
| XPNPEP2 | proteolysis; cellular process | Xq25 |
| XPNPEP3 | proteolysis; cellular process | 22q13.2 |
| XPO1 | viral genome transport in host cell; mRNA transport; interspecies interaction between organisms; viral infectious cycle; mRNA metabolic process; RNA metabolic process; gene expression; intracellular protein transport; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; viral reproduction | 2p15 |
| XPO4 | protein transport; positive regulation of protein export from nucleus | 13q11 |
| XPO5 | intracellular protein transport; gene silencing by RNA; protein export from nucleus | 6p21.1 |
| XPO6 | protein export from nucleus; intracellular protein transport | 16p11.2 |
| XPO7 | mRNA transport; intracellular protein transport; protein export from nucleus | 8p21 |
| XPOT | intracellular protein transport; transport; tRNA export from nucleus | 12q14.2 |
| XPOTP1 | - | 20q11.22 |
| XPR1 | response to virus; G-protein coupled receptor signaling pathway | 1q25.1 |
| XRCC1 | base-excision repair; response to drug; response to organic substance; DNA repair; response to hypoxia; single strand break repair | 19q13.2 |
| XRCC2 | positive regulation of neurogenesis; negative regulation of neuron apoptosis; response to gamma radiation; response to X-ray; DNA recombination; DNA repair; in utero embryonic development; double-strand break repair via homologous recombination; meiosis | 7q36.1 |
| XRCC3 | DNA repair; DNA recombination; response to DNA damage stimulus | 14q32.3 |
| XRCC4 | central nervous system development; isotype switching; response to X-ray; response to gamma radiation; viral reproduction; provirus integration; initiation of viral infection; T cell differentiation in thymus; immunoglobulin V(D)J recombination; negative regulation of neuron apoptosis; double-strand break repair via nonhomologous end joining; DNA repair; pro-B cell differentiation; in utero embryonic development; positive regulation of fibroblast proliferation; positive regulation of neurogenesis; DNA ligation involved in DNA repair; positive regulation of ligase activity; double-strand break repair; cellular response to lithium ion | 5q14.2 |
| XRCC5 | viral reproduction; provirus integration; initiation of viral infection; negative regulation of transcription, DNA-dependent; negative regulation of apoptotic process; cell proliferation; DNA recombination; double-strand break repair via nonhomologous end joining; double-strand break repair; DNA repair; telomere maintenance; positive regulation of neurogenesis; hemopoietic stem cell differentiation | 2q35 |
| XRCC6 | negative regulation of transcription, DNA-dependent; viral reproduction; provirus integration; initiation of viral infection; V(D)J recombination; DNA repair; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of neurogenesis; response to ionizing radiation; double-strand break repair via nonhomologous end joining; double-strand break repair; telomere maintenance; DNA ligation | 22q13.2 |
| XRCC6BP1 | proteolysis; double-strand break repair via nonhomologous end joining | 12q14.1 |
| XRCC6P1 | - | 10q23.33 |
| XRCC6P2 | - | Xq28 |
| XRCC6P3 | - | 1q41 |
| XRCC6P4 | - | - |
| XRCC6P5 | - | Xq22.1 |
| XRN1 | nuclear mRNA surveillance; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process; nucleobase-containing compound metabolic process; histone mRNA catabolic process; RNA metabolic process; gene expression; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA metabolic process; rRNA 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; RNA catabolic process; spermatogenesis; cell growth; RNA metabolic process; nucleic acid phosphodiester bond hydrolysis | 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; D-xylose metabolic process; carbohydrate metabolic process | 3p22-p21.3 |
| XYLT1 | cellular response to heat; response to interleukin-1; negative regulation of axon regeneration; proteoglycan biosynthetic process; glycosaminoglycan biosynthetic process | 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 | contact inhibition; hippo signaling cascade; cell proliferation; cellular response to gamma radiation; response to DNA damage stimulus; regulation of transcription, DNA-dependent | 11q13 |
| YAP1P1 | - | 6q24.3 |
| YAP1P2 | - | - |
| YARS | signal transduction; gene expression; apoptotic process; tyrosyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 1p35.1 |
| YARS2 | tRNA aminoacylation for protein translation; translation; gene expression; tRNA aminoacylation; mitochondrial tyrosyl-tRNA aminoacylation | 12p11.21 |
| YBEY | - | 21q22.3 |
| YBX1 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; RNA splicing; gene expression; in utero embryonic development; negative regulation of transcription, DNA-dependent; negative regulation of striated muscle cell differentiation; positive regulation of cell division; nuclear mRNA splicing, via spliceosome; negative regulation of transcription from RNA polymerase II promoter; CRD-mediated mRNA stabilization | 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; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; spermatogenesis; spermatid development; translational attenuation; negative regulation of translation; mRNA stabilization; oogenesis; oocyte development | 17p13.1 |
| YBX3 | - | 12p13.1 |
| YBX3P1 | - | 16p11.2 |
| YDJC | carbohydrate metabolic process | 22q11.21 |
| YEATS2 | histone H3 acetylation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent | 3q27.1 |
| YEATS4 | histone H4 acetylation; chromatin modification; mitosis; regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; histone H2A acetylation; regulation of growth | 12q13-q15 |
| YES1 | protein modification process; blood coagulation; glucose transport; T cell costimulation; regulation of vascular permeability; leukocyte migration | 18p11.31-p11.21 |
| YIF1A | activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response; vesicle-mediated transport; protein transport | 11q13 |
| YIF1B | - | 19q13.2 |
| YIPF1 | - | 1p33-p32.1 |
| YIPF2 | - | 19p13.2 |
| YIPF3 | cell differentiation | 6p21.1 |
| YIPF4 | - | 2p22.3 |
| YIPF5 | protein transport; vesicle-mediated transport | 5q31.3 |
| YIPF6 | - | Xq12 |
| YIPF7 | - | 4p12 |
| YJEFN3 | - | 19p13.11 |
| YKT6 | ER to Golgi vesicle-mediated transport; retrograde transport, endosome to Golgi; protein transport; vesicle docking involved in exocytosis; vesicle targeting | 7p15.1 |
| YLPM1 | regulation of transcription, DNA-dependent | 14q24.3 |
| YME1L1 | protein catabolic process; proteolysis | 10p14 |
| YME1L1P1 | - | 22q11.1 |
| YOD1 | protein K48-linked deubiquitination; proteolysis; cellular amino acid metabolic process; response to unfolded protein; ER-associated protein catabolic process; endoplasmic reticulum unfolded protein response; protein K63-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 | nuclear mRNA splicing, via spliceosome; RNA splicing | 4q13.2 |
| YTHDC2 | - | 5q22.2 |
| YTHDF1 | - | 20q13.33 |
| YTHDF2 | humoral immune response | 1p35 |
| YTHDF2P1 | - | 14q21.1 |
| YTHDF3 | - | 8q12.3 |
| YTHDF3-AS1 | - | 8q |
| YWHAB | Ras protein signal transduction; MAPK cascade; protein targeting; cytoplasmic sequestering of protein; nerve growth factor receptor signaling pathway; negative regulation of transcription, DNA-dependent; positive regulation of catalytic activity; negative regulation of protein dephosphorylation; mRNA metabolic process; RNA metabolic process; gene expression; activation of pro-apoptotic gene products; fibroblast growth factor receptor signaling pathway; insulin receptor signaling pathway; axon guidance; small GTPase mediated signal transduction; epidermal growth factor receptor signaling pathway; apoptotic process; activation of MAPKK activity; induction of apoptosis by intracellular signals | 20q13.1 |
| YWHAE | neuron migration; nerve growth factor receptor signaling pathway; interspecies interaction between organisms; intracellular signal transduction; negative regulation of protein dephosphorylation; cerebral cortex development; hippocampus development; induction of apoptosis by extracellular signals; apoptotic process; protein targeting; mitotic cell cycle; G2/M transition of mitotic cell cycle | 17p13.3 |
| YWHAEP1 | - | 7q11.21 |
| YWHAEP7 | - | 17q12 |
| YWHAG | protein targeting; regulation of signal transduction; regulation of neuron differentiation; negative regulation of protein kinase activity; mitotic cell cycle; G2/M transition of mitotic cell cycle; regulation of synaptic plasticity | 7q11.23 |
| YWHAH | glucocorticoid catabolic process; intracellular protein transport; glucocorticoid receptor signaling pathway; regulation of neuron differentiation; positive regulation of transcription, DNA-dependent; regulation of synaptic plasticity; negative regulation of dendrite morphogenesis | 22q12.3 |
| YWHAQ | negative regulation of transcription, DNA-dependent; small GTPase mediated signal transduction; protein targeting | 2p25.1 |
| YWHAQP2 | - | 22q13.2 |
| YWHAQP6 | - | 3q23 |
| YWHAQP8 | - | Xq22.1 |
| YWHAZ | mRNA metabolic process; response to drug; platelet activation; RNA metabolic process; gene expression; signal transduction; blood coagulation; 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 | chromosome organization; camera-type eye morphogenesis; cellular response to UV; cell differentiation; response to UV-C; anterior/posterior pattern specification; spermatogenesis; response to DNA damage stimulus; RNA localization; regulation of transcription from RNA polymerase II promoter; DNA recombination; DNA repair; double-strand break repair via homologous recombination; negative regulation of transcription from RNA polymerase II promoter | 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 | cell-cell adhesion; binding of sperm to zona pellucida | 7q22 |
| ZAP70 | T cell differentiation; T cell receptor signaling pathway; T cell activation; B cell activation; positive thymic T cell selection; intracellular protein kinase cascade; immune response; positive regulation of T cell differentiation; T cell aggregation; protein phosphorylation; adaptive immune response; T cell migration | 2q12 |
| ZAR1 | sodium ion transport; multicellular organismal development | 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 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 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 | positive regulation of apoptotic process; forelimb morphogenesis; embryonic hindlimb morphogenesis; positive regulation of chondrocyte differentiation; myeloid cell differentiation; hemopoiesis; anterior/posterior pattern specification; positive regulation of fat cell differentiation; embryonic pattern specification; negative regulation of cell proliferation; mesonephros development; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; male germ-line stem cell division; cartilage development; positive regulation of cartilage development; positive regulation of ossification; apoptotic process; central nervous system development; negative regulation of myeloid cell differentiation | 11q23.1 |
| ZBTB17 | negative regulation of cell cycle; multicellular organismal development; ectoderm development; endoplasmic reticulum unfolded protein response; activation of signaling protein activity involved in unfolded protein response; regulation of transcription, DNA-dependent; gastrulation with mouth forming second; positive 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 | transcription from RNA polymerase II promoter; hemopoiesis; T cell proliferation; regulation of transcription, DNA-dependent; DNA repair; regulation of cytokine production; 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 | regulation of transcription, DNA-dependent; response to DNA damage stimulus; 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 | multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; regulation of osteoclast differentiation; negative regulation of transcription, DNA-dependent; cell differentiation | 19p13.3 |
| ZBTB7B | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; cell differentiation; multicellular organismal development; ectoderm development | 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 | cell differentiation; multicellular organismal development; apoptotic process; angiogenesis | 1p34.3 |
| ZC3H12B | - | Xq12 |
| ZC3H12C | - | 11q22.3 |
| ZC3H12D | negative regulation of cell growth; negative regulation of G1/S transition of mitotic cell cycle | 6q25.1 |
| ZC3H13 | - | 13q14.13 |
| ZC3H14 | - | 14q31.3 |
| ZC3H15 | cytokine-mediated signaling pathway | 2q32.1 |
| ZC3H18 | - | 16q24.2 |
| ZC3H3 | regulation of mRNA export from nucleus; mRNA polyadenylation; poly(A)+ mRNA export from nucleus | 8q24.3 |
| ZC3H4 | - | 19q13.32 |
| ZC3H6 | - | 2q13 |
| ZC3H7A | - | 16p13-p12 |
| ZC3H7B | interspecies interaction between organisms | 22q13.2 |
| ZC3H8 | regulation of transcription, DNA-dependent; apoptotic process; negative regulation of T cell differentiation in thymus; T cell homeostasis; negative regulation of transcription, DNA-dependent; positive regulation of thymocyte apoptosis; response to antibiotic | 2q13 |
| ZC3HAV1 | response to virus; regulation of defense response to virus by host | 7q34 |
| ZC3HAV1L | - | 7q34 |
| ZC3HC1 | anti-apoptosis; cell division; mitosis; cell cycle | 7q32.2 |
| ZC4H2 | - | Xq11.2 |
| ZCCHC10 | - | 5q31.1 |
| ZCCHC11 | RNA 3'-end processing; regulation of lipopolysaccharide-mediated signaling pathway; negative regulation of NF-kappaB transcription factor activity; positive regulation of interleukin-6 production; gene silencing by RNA; interleukin-6-mediated signaling pathway; pre-miRNA processing; stem cell maintenance; miRNA catabolic process; miRNA metabolic process; cytokine production; histone mRNA catabolic process | 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 | RNA splicing; nuclear mRNA splicing, via spliceosome | 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 | signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade; ion transmembrane transport; magnesium ion transport; metabolic process | 11p15.1 |
| ZDHHC14 | - | 6q25.3 |
| ZDHHC15 | establishment of protein localization; protein palmitoylation; synaptic vesicle maturation | Xq13.3 |
| ZDHHC16 | apoptotic process | 10q24.1 |
| ZDHHC17 | magnesium ion transport; positive regulation of I-kappaB kinase/NF-kappaB cascade; lipoprotein transport; protein palmitoylation; signal transduction; ion transport | 12q21.2 |
| ZDHHC18 | cellular protein localization; metabolic process | 1p36.11 |
| ZDHHC19 | - | 3q29 |
| ZDHHC2 | protein palmitoylation | 8p22 |
| ZDHHC20 | - | 13q12.11 |
| ZDHHC20-IT1 | - | - |
| ZDHHC20P4 | - | 13q21.33 |
| ZDHHC21 | regulation of nitric-oxide synthase activity; nitric oxide metabolic process; small molecule metabolic process | 9p22.3 |
| ZDHHC22 | - | 14q24.3 |
| ZDHHC23 | - | 3q13.31 |
| ZDHHC24 | - | 11q13.2 |
| ZDHHC3 | protein palmitoylation; protein targeting | 3p21.31 |
| ZDHHC4 | - | 7p22.1 |
| ZDHHC5 | - | 11q12.1 |
| ZDHHC6 | - | 10q25.2 |
| ZDHHC7 | - | 16q24.1 |
| ZDHHC8 | - | 22q11.21 |
| ZDHHC8P1 | - | 22q11.23 |
| ZDHHC9 | - | Xq26.1 |
| ZEB1 | regulation of transcription from RNA polymerase II promoter; immune response; response to activity; forebrain development; negative regulation of epithelial cell differentiation; cell differentiation; regulation of transforming growth factor beta receptor signaling pathway; response to nutrient levels; regulation of T cell differentiation in thymus; negative regulation of transcription from RNA polymerase II promoter; 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; cell proliferation; positive regulation of neuron differentiation; negative regulation of transcription, DNA-dependent; pattern specification process; nervous system development; central nervous system development; negative regulation of cell proliferation; regulation of mesenchymal cell proliferation; positive regulation of transcription from RNA polymerase II promoter; embryonic | 10p11.2 |
| ZEB1-AS1 | - | 10p11.22 |
| ZEB2 | cell proliferation in forebrain; positive regulation of Wnt receptor signaling pathway; hippocampus development; central nervous system development; nervous system development; neural tube closure; somitogenesis; neural crest cell migration; positive regulation of JUN kinase activity; embryonic morphogenesis | 2q22.3 |
| ZEB2-AS1 | - | 2q22.3 |
| ZEB2P1 | - | 4p15.32 |
| ZER1 | protein ubiquitination; ATP hydrolysis coupled proton transport; regulation of ubiquitin-protein ligase activity | 9q34.11 |
| ZFAND1 | - | 8q21.13 |
| ZFAND2A | - | 7p22.3 |
| ZFAND2B | - | 2q35 |
| ZFAND3 | - | 6pter-p22.3 |
| ZFAND4 | - | 10q11.22 |
| ZFAND5 | skeletal system morphogenesis; in utero embryonic development; vasculature development; platelet-derived growth factor receptor signaling pathway; respiratory system process; fibroblast migration; face development; smooth muscle tissue 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 | negative regulation of transcription from RNA polymerase II promoter; muscle organ development; negative regulation of myoblast differentiation; positive regulation of myoblast differentiation; negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 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 | positive regulation of nuclear-transcribed mRNA poly(A) tail shortening; 3'-UTR-mediated mRNA stabilization; response to stress; RNA destabilization; negative regulation of inflammatory response; negative regulation of myeloid cell differentiation; regulation of mRNA stability; regulation of tumor necrosis factor production; mRNA metabolic process; RNA metabolic process; gene expression; intracellular protein kinase cascade; negative regulation of transcription from RNA polymerase II promoter; mRNA catabolic process | 19q13.1 |
| ZFP36L1 | RNA metabolic process; gene expression; regulation of translation; mRNA catabolic process; regulation of transcription, DNA-dependent; vasculogenesis; mRNA metabolic process; T cell differentiation in thymus; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; regulation of mRNA stability | 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 proliferation; cell differentiation | 9q32 |
| ZFP41 | cell differentiation; regulation of transcription, DNA-dependent; multicellular organismal development; spermatogenesis | 8q24.3 |
| ZFP42 | regulation of transcription, DNA-dependent; female gonad development; male gonad development; meiosis | 4q35.2 |
| ZFP57 | regulation of gene expression by genetic imprinting; DNA methylation involved in embryo development; multicellular organismal development; regulation of transcription, DNA-dependent | 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 | positive regulation of transcription, DNA-dependent; negative regulation of DNA binding | 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 | regulation of transcription, DNA-dependent; vesicle-mediated transport | 11q13 |
| ZFPM1 | negative regulation of transcription from RNA polymerase II promoter; T-helper cell lineage commitment; negative regulation of protein binding; embryonic hemopoiesis; platelet formation; megakaryocyte differentiation; erythrocyte differentiation; positive regulation of interferon-gamma biosynthetic process; regulation of definitive erythrocyte differentiation; blood coagulation; heart development; regulation of transcription, DNA-dependent; tricuspid valve formation; mitral valve formation; atrioventricular valve morphogenesis; outflow tract morphogenesis; negative regulation of interleukin-4 biosynthetic process; negative regulation of fat cell differentiation; cardiac muscle tissue morphogenesis; primitive erythrocyte differentiation; negative regulation of mast cell differentiation; ventricular septum morphogenesis; atrial septum morphogenesis; transcriptional activation by promoter-enhancer looping | 16q24.2 |
| ZFPM2 | blood coagulation; embryonic organ development; cardiac muscle tissue development; ventricular septum morphogenesis; negative regulation of cell death; positive regulation of male gonad development; negative regulation of female gonad development; right ventricular cardiac muscle tissue morphogenesis; vasculogenesis; negative regulation of transcription from RNA polymerase II promoter; negative regulation of fat cell differentiation; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; in utero embryonic development; outflow tract septum morphogenesis; lung development | 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 | endosome transport; vesicle organization; signal transduction; protein targeting to lysosome; regulation of endocytosis; BMP signaling pathway | 5q14 |
| ZFYVE19 | - | 15q15.1 |
| ZFYVE21 | - | 14q32.33 |
| ZFYVE26 | DNA repair; cytokinesis; double-strand break repair via homologous recombination; cell death; cell cycle | 14q24.1 |
| ZFYVE27 | protein localization in plasma membrane; nerve growth factor receptor signaling pathway; neuron projection development; cell death | 10q24.2 |
| ZFYVE28 | negative regulation of epidermal growth factor receptor signaling pathway; negative regulation of epidermal growth factor-activated receptor activity | 4p16.3 |
| ZFYVE9 | endocytosis; transforming growth factor beta receptor signaling pathway; SMAD protein complex assembly; SMAD protein import into nucleus | 1p32.3 |
| ZFYVE9P1 | - | Xq26.3 |
| ZG16 | protein transport | 16p11.2 |
| ZG16B | - | 16p13.3 |
| ZGLP1 | oocyte development; positive regulation of ERK1 and ERK2 cascade; multicellular organismal development; negative regulation of apoptotic process; positive regulation of peptidyl-serine phosphorylation; negative regulation of transcription from RNA polymerase II promoter; spermatogenesis; positive regulation of protein binding | 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 from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent | 8q24.13 |
| ZHX1-C8orf76 | - | 8q |
| ZHX2 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of neuron differentiation; mRNA catabolic process; somatic stem cell maintenance | 8q24.13 |
| ZHX3 | negative regulation of transcription, DNA-dependent; positive regulation of osteoblast differentiation | 20q12 |
| ZIC1 | spinal cord development; cell differentiation; positive regulation of protein import into nucleus; regulation of smoothened signaling pathway; behavior; brain development; pattern specification process; regulation of transcription, DNA-dependent; inner ear morphogenesis; positive regulation of transcription, DNA-dependent | 3q24 |
| ZIC2 | negative regulation of transcription, DNA-dependent; neural tube closure; multicellular organismal development; brain development; visual perception; cell differentiation; retinal ganglion cell axon guidance; positive regulation of transcription, DNA-dependent; developmental pigmentation; positive regulation of sequence-specific DNA binding transcription factor activity | 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 | multicellular organismal development; nervous system development; cell differentiation | 13q32.3 |
| ZIK1 | regulation of transcription, DNA-dependent | 19q13.43 |
| ZIK1P1 | - | Xq25 |
| ZIM3 | regulation of transcription, DNA-dependent | - |
| ZKSCAN1 | viral reproduction; regulation of transcription, DNA-dependent | 7q22 |
| ZKSCAN2 | viral reproduction | 16p12.1 |
| ZKSCAN3 | viral reproduction; positive regulation of transcription, DNA-dependent | 6p22.1 |
| ZKSCAN4 | viral reproduction | 6p21 |
| ZKSCAN5 | viral reproduction; regulation of transcription, DNA-dependent | 7q22 |
| ZKSCAN7 | - | 3p21.32 |
| ZKSCAN8 | - | 6p21.3 |
| ZMAT1 | - | Xq21 |
| ZMAT2 | - | 5q31.3 |
| ZMAT3 | regulation of growth; protein transport; response to DNA damage stimulus; apoptotic process; induction of apoptosis | 3q26.32 |
| ZMAT4 | - | 8p11.21 |
| ZMAT5 | RNA splicing; mRNA processing | 22cen-q12.3 |
| ZMIZ1 | vasculogenesis; artery morphogenesis; in utero embryonic development; developmental growth; positive regulation of fibroblast proliferation; positive regulation of transcription from RNA polymerase II promoter; cell aging; vitellogenesis; regulation of transcription, DNA-dependent; heart morphogenesis | 10q22.3 |
| ZMIZ1-AS1 | - | 10q22.3 |
| ZMIZ2 | positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 7p13 |
| ZMPSTE24 | nuclear envelope organization; prenylated protein catabolic process; proteolysis; metabolic process | 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 | cytoskeleton organization; multicellular organismal development; regulation of cell morphogenesis | 1p32-p34 |
| ZMYM5 | - | 13q12 |
| ZMYM6 | regulation of cell morphogenesis; multicellular organismal development; cytoskeleton organization | 1p34.2 |
| ZMYND10 | - | 3p21.3 |
| ZMYND10-AS1 | - | - |
| ZMYND11 | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; cell cycle; cell proliferation; negative regulation of I-kappaB kinase/NF-kappaB cascade; interspecies interaction between organisms; negative regulation of JNK cascade; negative regulation of extrinsic apoptotic signaling pathway | 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 cell morphogenesis; cytoskeleton organization; regulation of transcription, DNA-dependent | 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 | anatomical structure morphogenesis; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 4p16.3 |
| ZNF142 | regulation of transcription, DNA-dependent | 2q35 |
| ZNF143 | gene expression; transcription from RNA polymerase III promoter; transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase III promoter; regulation of transcription from RNA polymerase II promoter | 11p15.4 |
| ZNF146 | regulation of transcription, DNA-dependent | 19q13.1 |
| ZNF148 | negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; protein complex assembly; cellular defense response; gamete generation; negative regulation of gene expression | 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 | hemopoiesis; regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF165 | viral reproduction; regulation of transcription, DNA-dependent | 6p21.3 |
| ZNF169 | regulation of transcription, DNA-dependent | 9q22.32 |
| ZNF17 | regulation of transcription, DNA-dependent | 19q13.4 |
| ZNF174 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; viral reproduction | 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 | regulation of transcription, DNA-dependent; viral reproduction | 3p21 |
| ZNF2 | regulation of transcription, DNA-dependent | 2q11.2 |
| ZNF200 | regulation of transcription, DNA-dependent | 16p13.3 |
| ZNF202 | negative regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; lipid metabolic process; viral reproduction | 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 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 19p12 |
| ZNF256 | multicellular organismal development; regulation of transcription, DNA-dependent; negative 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 | regulation of transcription, DNA-dependent; multicellular organismal development | 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 | positive regulation of transcription, DNA-dependent; negative regulation of gene expression; negative regulation of transcription, DNA-dependent | 1q32.1 |
| ZNF282 | regulation of transcription, DNA-dependent; negative 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 | regulation of cytokine biosynthetic process; positive regulation of transcription, DNA-dependent; viral reproduction | 17p11.2 |
| ZNF292 | positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 6q14.3 |
| ZNF295-AS1 | - | 21q22.3 |
| ZNF296 | spermatogenesis; regulation of transcription, DNA-dependent | 19q13.32 |
| ZNF299P | - | 21q21.1 |
| ZNF29P | - | 17p12 |
| ZNF3 | regulation of transcription, DNA-dependent; cell differentiation; multicellular organismal development; leukocyte activation | 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 | meiosis; regulation of transcription, DNA-dependent | 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; transcription from RNA polymerase III promoter; regulation of transcription from RNA polymerase III promoter; transcription from RNA polymerase II promoter | 19q13.12 |
| ZNF346 | apoptotic process | 5q35.2 |
| ZNF347 | regulation of transcription, DNA-dependent | 19q13.42 |
| ZNF35 | regulation of transcription, DNA-dependent; spermatogenesis; cellular response to retinoic acid | 3p21.32 |
| ZNF350 | negative regulation of transcription, DNA-dependent; 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; regulation of transcription, DNA-dependent; negative regulation of intracellular estrogen receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter | 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 | nervous system development; negative regulation of transcription, DNA-dependent; positive regulation of BMP signaling pathway; multicellular organismal development; positive regulation of transcription, DNA-dependent; cell differentiation; 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 | regulation of transcription, DNA-dependent; induction of apoptosis; response to stress | 19p13.2 |
| ZNF444 | viral reproduction | 19q13.43 |
| ZNF444P1 | - | - |
| ZNF445 | viral reproduction | 3p21.32 |
| ZNF446 | viral reproduction | 19q13.43 |
| ZNF449 | viral reproduction | Xq26.3 |
| ZNF45 | regulation of transcription, DNA-dependent; multicellular organismal development; gene expression | 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 | gene expression; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; histone mRNA 3'-end processing; histone mRNA metabolic process | 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 | oligodendrocyte development; negative regulation of transcription, DNA-dependent; positive regulation of oligodendrocyte differentiation | 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 | viral reproduction; negative regulation of transcription from RNA polymerase II promoter; 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 | regulation of transcription, DNA-dependent; retina development in camera-type eye; response to stimulus; visual perception | 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 | cell differentiation; multicellular organismal development; regulation of transcription, DNA-dependent | 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 | negative regulation of neuron differentiation; negative regulation of retinoic acid receptor signaling pathway; regulation of transcription, DNA-dependent | 19q12 |
| ZNF540 | regulation of transcription, DNA-dependent | 19q13.12 |
| ZNF541 | multicellular organismal development; regulation of transcription, DNA-dependent; 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 JNK cascade; positive regulation of MAPK cascade; positive regulation of apoptotic process; positive regulation of kinase activity; induction of apoptosis by oxidative stress | 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 | RNA splicing; regulation of transcription, DNA-dependent | 2p13.1 |
| ZNF639 | negative regulation of transcription, DNA-dependent; positive regulation by host of viral transcription; negative regulation by host of viral transcription; positive regulation of cell growth; initiation of viral infection | 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 | G1 phase; regulation of mitotic cell cycle; regulation of transcription, DNA-dependent | 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 | regulation of transcription, DNA-dependent; bone resorption; 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; I-kappaB kinase/NF-kappaB cascade; negative regulation of JNK cascade; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription regulatory region DNA binding; negative regulation of interleukin-1-mediated signaling pathway; negative regulation of osteoclast differentiation | 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 | negative regulation of homotypic cell-cell adhesion; mammary gland epithelial cell differentiation; positive regulation of mammary gland epithelial cell proliferation; positive regulation of cell migration; regulation of transforming growth factor beta receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; positive regulation of cell proliferation; regulation of transcription, DNA-dependent; regulation of canonical Wnt receptor signaling pathway; adherens junction assembly; negative regulation of transcription, DNA-dependent; regulation of cell cycle | 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; regulation of transcription, DNA-dependent; protein polyubiquitination | 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 III promoter; regulation of transcription from RNA polymerase II 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 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; BMP signaling pathway | 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 | box C/D snoRNP assembly; ribosome biogenesis | 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 | binding of sperm to zona pellucida; single fertilization; intracellular protein transport; manganese ion transport; regulation of acrosome reaction | 16p12 |
| ZP3 | oocyte development; phosphatidylinositol-mediated signaling; single fertilization; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of antral ovarian follicle growth; binding of sperm to zona pellucida; positive regulation of ovarian follicle development; positive regulation of acrosomal vesicle exocytosis; negative regulation of binding of sperm to zona pellucida; positive regulation of phosphatidylinositol biosynthetic process; regulation of calcium ion transport via store-operated calcium channel activity; positive regulation of calcium ion transport via store-operated calcium channel activity; positive regulation of interferon-gamma production; positive regulation of interleukin-4 production; intracellular signal transduction; egg coat formation; positive regulation of T cell proliferation; positive regulation of protein kinase activity; positive regulation of inflammatory response; positive regulation of type IV hypersensitivity | 7q11.23 |
| ZP4 | intracellular signal transduction; positive regulation of T cell proliferation; positive regulation of protein kinase activity; protein kinase A signaling cascade; single fertilization; positive regulation of humoral immune response; acrosomal vesicle exocytosis; protein kinase C signaling cascade; positive regulation of acrosome reaction; negative regulation of binding of sperm to zona pellucida | 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 | cytoskeleton organization; 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; 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 | RNA splicing; nuclear mRNA splicing, via spliceosome; spliceosome assembly | Xp22.1 |
| ZSCAN1 | viral reproduction | 19q13.43 |
| ZSCAN10 | viral reproduction; negative regulation of transcription, DNA-dependent | 16p13.3 |
| ZSCAN12 | viral reproduction | 6p21 |
| ZSCAN12P1 | - | 6p22.1 |
| ZSCAN16 | viral reproduction | 6p22.1 |
| ZSCAN16-AS1 | - | 6p22.1 |
| ZSCAN18 | viral reproduction | 19q13.43 |
| ZSCAN2 | cell differentiation; viral reproduction; spermatogenesis; multicellular organismal development | 15q25.2 |
| ZSCAN20 | viral reproduction | 1p34.3 |
| ZSCAN21 | regulation of transcription, DNA-dependent; viral reproduction; positive 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 | DNA repair; protein stabilization; DNA recombination; double-strand break repair via homologous recombination | 17p12 |
| ZSWIM8 | - | 10q22.2 |
| ZSWIM8-AS1 | - | - |
| ZUFSP | - | 6q22.1 |
| ZW10 | protein complex assembly; cell division; protein localization to kinetochore; vesicle-mediated transport; protein transport; meiosis; regulation of exit from mitosis; mitotic cell cycle checkpoint; mitotic metaphase plate congression; ER to Golgi vesicle-mediated transport; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; mitotic sister chromatid segregation; establishment of mitotic spindle orientation | 11q23.2 |
| ZWILCH | cell division; mitotic cell cycle checkpoint; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 15q22.31 |
| ZWINT | establishment of localization in cell; mitotic sister chromatid segregation; cell division; phosphatidylinositol-mediated signaling; mitotic cell cycle checkpoint; spindle organization; cell cycle; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 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 | interspecies interaction between organisms; cell-cell signaling; signal transduction; cell adhesion | 7q32 |
| ZZEF1 | - | 17p13.2 |
| ZZZ3 | regulation of transcription, DNA-dependent | 1p31.1 |