| Name | Annotations | Location |
| A1BG | - | 19q13.4 |
| A1BG-AS1 | - | 19q13.4 |
| A1CF | protein stabilization; mRNA modification; cytidine to uridine editing; gene expression; mRNA processing | 10q11.23 |
| A2M | platelet degranulation; small GTPase mediated signal transduction; blood coagulation; blood coagulation, intrinsic pathway; platelet activation; stem cell differentiation; regulation of small GTPase mediated signal transduction; negative regulation of complement activation, lectin pathway | 12p13.31 |
| A2M-AS1 | - | 12p13.31 |
| A2ML1 | negative regulation of peptidase activity; regulation of endopeptidase activity | 12p13.31 |
| A2MP1 | - | 12p13.31 |
| A4GALT | lipid biosynthetic process; plasma membrane organization; glycosphingolipid biosynthetic process | 22q13.2 |
| A4GNT | glycoprotein biosynthetic process; protein O-linked glycosylation; carbohydrate metabolic process | 3p14.3 |
| AAAS | transmembrane transport; regulation of nucleocytoplasmic transport; small molecule metabolic process; cytokine-mediated signaling pathway; viral reproduction; glucose transport; regulation of glucose transport; carbohydrate metabolic process; nucleocytoplasmic transport; learning; hexose transport; fertilization | 12q13 |
| AACS | positive regulation of insulin secretion; cellular response to testosterone stimulus; cellular response to glucose stimulus; adipose tissue development; white fat cell differentiation; response to ethanol; response to starvation; response to drug; response to oleic acid; response to purine-containing compound; response to organic nitrogen; response to nutrient; fatty acid metabolic process; cellular response to cholesterol; lipid metabolic process; liver development | 12q24.31 |
| AACSP1 | - | 5q35.3 |
| AADAC | positive regulation of triglyceride catabolic process; metabolic process | 3q25.1 |
| AADACL2-AS1 | - | - |
| AADACL3 | metabolic process | 1p36.21 |
| AADACP1 | - | 3q25.1 |
| AADAT | glutamate metabolic process; 2-oxoglutarate metabolic process; lysine catabolic process; tryptophan catabolic process; biosynthetic process; tryptophan catabolic process to kynurenine; cellular nitrogen compound metabolic process; small molecule metabolic process; kynurenine metabolic process | 4q33 |
| AAED1 | - | 9q22.32 |
| AAGAB | protein transport | 15q22.33-q23 |
| AAK1 | protein autophosphorylation; protein stabilization; regulation of clathrin-mediated endocytosis; protein phosphorylation; positive regulation of Notch signaling pathway; regulation of protein localization; endocytosis | 2p14 |
| AAMDC | - | 11q14.1 |
| AAMP | angiogenesis; cell differentiation; smooth muscle cell migration; positive regulation of endothelial cell migration; multicellular organismal development | 2q35 |
| AANAT | response to prostaglandin E stimulus; response to cytokine stimulus; response to insulin stimulus; melatonin biosynthetic process; response to organic cyclic compound; response to zinc ion; response to light stimulus; circadian rhythm; cellular nitrogen compound metabolic process; small molecule metabolic process; indolalkylamine biosynthetic process; response to copper ion; response to corticosterone stimulus; response to cAMP; response to calcium ion | 17q25 |
| AAR2 | - | 20pter-q12 |
| AARD | lung development | 8q24.11 |
| AARS | tRNA aminoacylation for protein translation; protein folding; neuromuscular process controlling balance; negative regulation of neuron apoptosis; response to amino acid stimulus; endoplasmic reticulum unfolded protein response; skin development; cerebellar Purkinje cell layer development; gene expression; alanyl-tRNA aminoacylation; tRNA processing; hair follicle development; tRNA modification | 16q22 |
| AARS2 | tRNA aminoacylation for protein translation; alanyl-tRNA aminoacylation; gene expression | 6p21.1 |
| AARSD1 | tRNA aminoacylation; translation; alanyl-tRNA aminoacylation | 17q21.31 |
| AASDH | lipid metabolic process; fatty acid metabolic process | 4q12 |
| AASDHPPT | vitamin metabolic process; small molecule metabolic process; water-soluble vitamin metabolic process; macromolecule biosynthetic process; pantothenate metabolic process | 11q22 |
| AASS | lysine catabolic process; L-lysine catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process; protein tetramerization | 7q31.3 |
| AATBC | - | 21q22.3 |
| AATF | response to DNA damage stimulus; positive regulation of transcription from RNA polymerase II promoter; negative regulation of amyloid precursor protein biosynthetic process; ribosome biogenesis; embryonic cleavage; negative regulation of superoxide anion generation; induction of apoptosis by extracellular signals; regulation of mitotic cell cycle; cell adhesion; anti-apoptosis; apoptotic process; nerve growth factor receptor signaling pathway; negative regulation of reactive oxygen species metabolic process | 17q12 |
| AATK | protein autophosphorylation; apoptotic process | 17q25.3 |
| AATK-AS1 | - | 17q25.3 |
| ABALON | - | 20q11.21 |
| ABAT | response to iron ion; behavioral response to cocaine; negative regulation of blood pressure; response to ethanol; response to drug; neurotransmitter catabolic process; response to nicotine; gamma-aminobutyric acid catabolic process; locomotory behavior; copulation; behavior; neurotransmitter secretion; response to hypoxia; synaptic transmission | 16p13.2 |
| ABCA1 | endosome transport; positive regulation of cAMP biosynthetic process; intracellular cholesterol transport; Cdc42 protein signal transduction; cholesterol efflux; phospholipid efflux; high-density lipoprotein particle assembly; cellular response to retinoic acid; response to laminar fluid shear stress; apolipoprotein A-I-mediated signaling pathway; lipoprotein metabolic process; cholesterol homeostasis; cellular response to lipopolysaccharide; platelet dense granule organization; response to low-density lipoprotein particle stimulus; phospholipid homeostasis; interleukin-1 beta secretion; phospholipid translocation; anion transport; small molecule metabolic process; cellular lipid metabolic process; reverse cholesterol transport; positive regulation of cholesterol efflux; peptide secretion; protein lipidation; lipid metabolic process; transport; phagocytosis, engulfment; G-protein coupled receptor signaling pathway; steroid metabolic process; cholesterol metabolic process; negative regulation of macrophage der | 9q31.1 |
| ABCA10 | transport | 17q24 |
| ABCA11P | - | 4p16.3 |
| ABCA12 | cellular homeostasis; lipid transport; transport | 2q34 |
| ABCA13 | transport | 7p12.3 |
| ABCA17P | - | 16p13.3 |
| ABCA2 | ATP catabolic process; regulation of transcription from RNA polymerase II promoter; lipid metabolic process; transport; regulation of intracellular cholesterol transport; response to drug; cholesterol homeostasis; response to steroid hormone stimulus | 9q34 |
| ABCA3 | response to drug; transport; transmembrane transport | 16p13.3 |
| ABCA4 | transmembrane transport; response to stimulus; photoreceptor cell maintenance; phospholipid transfer to membrane; transport; visual perception; phototransduction, visible light | 1p22 |
| ABCA5 | reverse cholesterol transport; transport; high-density lipoprotein particle remodeling; cholesterol efflux; negative regulation of macrophage derived foam cell differentiation | 17q24.3 |
| ABCA6 | transport | 17q24.3 |
| ABCA7 | phagocytosis; phospholipid efflux; transmembrane transport | 19p13.3 |
| ABCA8 | transport; transmembrane transport | 17q24 |
| ABCA9 | transport | 17q24.2 |
| ABCB1 | stem cell proliferation; transmembrane transport; response to drug; transport; G2/M transition of mitotic cell cycle | 7q21.12 |
| ABCB10 | transport; transmembrane transport | 1q42.13 |
| ABCB10P3 | - | 15q13.1 |
| ABCB10P4 | - | 15q13.1 |
| ABCB11 | bile acid metabolic process; transport; bile acid biosynthetic process; transmembrane transport; small molecule metabolic process; canalicular bile acid transport; bile acid and bile salt transport | 2q24 |
| ABCB4 | lipid metabolic process; transport; response to drug; cellular lipid metabolic process; small molecule metabolic process; response to glucocorticoid stimulus; transmembrane transport | 7q21.1 |
| ABCB5 | transmembrane transport; regulation of membrane potential | 7p21.1 |
| ABCB6 | transport; porphyrin-containing compound biosynthetic process; cellular iron ion homeostasis; heme transport; transmembrane transport; cadmium ion transmembrane transport; detoxification of cadmium ion | 2q36 |
| ABCB7 | transmembrane transport; heme transport; transport; cellular iron ion homeostasis | Xq13.3 |
| ABCB8 | transmembrane transport; transport | 7q36 |
| ABCB9 | transmembrane transport; peptide transport; protein transport; antigen processing and presentation of peptide antigen via MHC class I; positive regulation of T cell mediated cytotoxicity | 12q24 |
| ABCC1 | transmembrane transport; small molecule metabolic process; response to drug; leukotriene biosynthetic process; transport; prostanoid metabolic process; ATP catabolic process | 16p13.1 |
| ABCC10 | transmembrane transport | 6p21.1 |
| ABCC11 | transmembrane transport | 16q12.1 |
| ABCC12 | transmembrane transport | 16q12.1 |
| ABCC13 | transmembrane transport | 21q11.2 |
| ABCC2 | transport; organic anion transport; transmembrane transport | 10q24 |
| ABCC3 | transport; bile acid metabolic process; transmembrane transport; small molecule metabolic process; bile acid and bile salt transport; organic anion transport | 17q22 |
| ABCC4 | platelet degranulation; transmembrane transport; platelet activation; blood coagulation; ion transport | 13q32 |
| ABCC5 | transport; transmembrane transport; response to insulin stimulus; response to lipopolysaccharide; organic anion transport | 3q27 |
| ABCC5-AS1 | - | - |
| ABCC6 | transmembrane transport; response to stimulus; response to drug; visual perception; transport | 16p13.1 |
| ABCC6P1 | - | 16p12.3 |
| ABCC8 | carbohydrate metabolic process; potassium ion transmembrane transport; transmembrane transport; regulation of insulin secretion; negative regulation of insulin secretion; small molecule metabolic process; positive regulation of potassium ion transport; response to drug; response to lipopolysaccharide; response to zinc ion; response to pH; synaptic transmission; potassium ion transport; energy reserve metabolic process; response to insulin stimulus | 11p15.1 |
| ABCC9 | transmembrane transport; defense response to virus; potassium ion import; synaptic transmission; potassium ion transport | 12p12.1 |
| ABCD1 | peroxisomal long-chain fatty acid import; peroxisomal membrane transport; fatty acid beta-oxidation using acyl-CoA oxidase; cellular lipid metabolic process; peroxisome organization; small molecule metabolic process; transmembrane transport; ATP catabolic process | Xq28 |
| ABCD1P2 | - | 10p11 |
| ABCD1P3 | - | 16p11 |
| ABCD1P4 | - | 22q11 |
| ABCD1P5 | - | 2p11.1 |
| ABCD2 | transmembrane transport; positive regulation of fatty acid beta-oxidation; very long-chain fatty acid metabolic process | 12q12 |
| ABCD3 | ATP catabolic process; response to drug; transmembrane transport | 1p21.3 |
| ABCD4 | transmembrane transport | 14q24.3 |
| ABCE1 | interspecies interaction between organisms; response to virus; RNA catabolic process | 4q31 |
| ABCF1 | translation; translational initiation; inflammatory response; ribosome biogenesis; positive regulation of translation | 6p21.33 |
| ABCF2 | transport | 7q36 |
| ABCF2P1 | - | 3p11.1 |
| ABCF2P2 | - | - |
| ABCF3 | - | 3q27.1 |
| ABCG1 | glycoprotein transport; cholesterol metabolic process; detection of hormone stimulus; response to organic substance; negative regulation of macrophage derived foam cell differentiation; regulation of cholesterol esterification; positive regulation of cholesterol efflux; negative regulation of cholesterol storage; phospholipid transport; intracellular cholesterol transport; cholesterol efflux; phospholipid efflux; response to lipid; low-density lipoprotein particle remodeling; high-density lipoprotein particle remodeling; lipoprotein metabolic process; cholesterol homeostasis; amyloid precursor protein catabolic process; reverse cholesterol transport; small molecule metabolic process; positive regulation of cholesterol biosynthetic process; transmembrane transport; phospholipid homeostasis; response to high density lipoprotein particle stimulus; lipid metabolic process; regulation of transcription, DNA-dependent | 21q22.3 |
| ABCG2 | cellular iron ion homeostasis; transmembrane transport; heme transport; response to drug; urate metabolic process; transport | 4q22 |
| ABCG4 | cholesterol efflux; transmembrane transport | 11q23.3 |
| ABCG5 | cholesterol efflux; intestinal cholesterol absorption; response to drug; cholesterol homeostasis; excretion; response to nutrient; lipid metabolic process; ATP catabolic process; sterol transport; negative regulation of intestinal phytosterol absorption; response to ionizing radiation; transmembrane transport; small molecule metabolic process; negative regulation of intestinal cholesterol absorption | 2p21 |
| ABCG8 | ATP catabolic process; lipid metabolic process; transmembrane transport; negative regulation of intestinal cholesterol absorption; small molecule metabolic process; cholesterol homeostasis; cholesterol efflux; intestinal cholesterol absorption; sterol transport; phospholipid transport; negative regulation of intestinal phytosterol absorption; excretion | 2p21 |
| ABHD1 | - | 2p23.3 |
| ABHD10 | proteolysis | 3q13.2 |
| ABHD11 | - | 7q11.23 |
| ABHD11-AS1 | - | 7q11.23 |
| ABHD12 | - | 20p11.21 |
| ABHD12B | - | 14q22.1 |
| ABHD13 | - | 13q33.3 |
| ABHD14A | - | 3p21.1 |
| ABHD14B | - | 3p21.2 |
| ABHD15 | - | 17q11.2 |
| ABHD16A | - | 6p21.3 |
| ABHD16B | - | 20q13.33 |
| ABHD17A | - | 19p13.3 |
| ABHD17AP3 | - | 1q41 |
| ABHD17AP4 | - | 22q11.21 |
| ABHD17AP5 | - | 22q11.22 |
| ABHD17AP6 | - | 17p11.2 |
| ABHD17B | - | 9q21.13 |
| ABHD17C | - | 15q25.1 |
| ABHD18 | - | 4q28.2 |
| ABHD2 | response to wounding; negative regulation of cell migration | 15q26.1 |
| ABHD3 | - | 18q11.2 |
| ABHD4 | lipid catabolic process | 14q11.2 |
| ABHD5 | lipid metabolic process; phospholipid biosynthetic process; positive regulation of lipoprotein lipase activity; small molecule metabolic process; cell differentiation; triglyceride catabolic process; positive regulation of triglyceride catabolic process; negative regulation of sequestering of triglyceride; phosphatidic acid biosynthetic process; fatty acid metabolic process | 3p21 |
| ABHD6 | regulation of endocannabinoid signaling pathway; long term synaptic depression; negative regulation of cell migration | 3p14.3 |
| ABHD8 | - | 19p13.11 |
| ABI1 | negative regulation of cell proliferation; actin polymerization or depolymerization; cellular component movement; somitogenesis; peptidyl-tyrosine phosphorylation; transmembrane receptor protein tyrosine kinase signaling pathway | 10p11.2 |
| ABI2 | peptidyl-tyrosine phosphorylation; cellular component movement; cytoskeleton organization; actin polymerization or depolymerization; cell migration | 2q33 |
| ABI3 | peptidyl-tyrosine phosphorylation; regulation of cell migration; cellular component movement | 17q21.3 |
| ABI3BP | extracellular matrix organization; positive regulation of cell-substrate adhesion | 3q12 |
| ABL1 | regulation of transcription, DNA-dependent; regulation of transcription involved in S phase of mitotic cell cycle; regulation of response to DNA damage stimulus; regulation of actin cytoskeleton reorganization; regulation of cell motility; negative regulation of protein serine/threonine kinase activity; positive regulation of oxidoreductase activity; positive regulation of muscle cell differentiation; positive regulation of apoptotic process; signal transduction in response to DNA damage; muscle cell differentiation; regulation of cell adhesion; regulation of endocytosis; actin cytoskeleton organization; peptidyl-tyrosine phosphorylation; regulation of autophagy; DNA damage response, signal transduction resulting in induction of apoptosis; blood coagulation; axon guidance; DNA damage induced protein phosphorylation; protein modification process; mismatch repair | 9q34.1 |
| ABL2 | regulation of actin cytoskeleton reorganization; regulation of cell motility; cellular response to retinoic acid; regulation of cell adhesion; protein modification process; protein phosphorylation; signal transduction; axon guidance; positive regulation of oxidoreductase activity; regulation of autophagy; positive regulation of neuron projection development; peptidyl-tyrosine phosphorylation; regulation of endocytosis | 1q25.2 |
| ABLIM1 | cytoskeleton organization; axon guidance; visual perception; organ morphogenesis; positive regulation of transcription from RNA polymerase II promoter | 10q25 |
| ABLIM2 | cytoskeleton organization; axon guidance | 4p16.1 |
| ABLIM3 | positive regulation of transcription from RNA polymerase II promoter; axon guidance; cytoskeleton organization | 5q32 |
| ABO | protein glycosylation; carbohydrate metabolic process | 9q34.2 |
| ABR | negative regulation of inflammatory response; regulation of small GTPase mediated signal transduction; neuromuscular process controlling balance; positive regulation of phagocytosis; nerve growth factor receptor signaling pathway; positive regulation of GTPase activity; negative regulation of neutrophil degranulation; inner ear morphogenesis; regulation of Rho protein signal transduction; apoptotic process; small GTPase mediated signal transduction; brain development; induction of apoptosis by extracellular signals; response to lipopolysaccharide; negative regulation of cell migration; actin cytoskeleton organization | 17p13.3 |
| ABRACL | - | 6q24.1 |
| ABT1 | regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; spinal cord motor neuron differentiation | 6p22.2 |
| ABTB1 | - | 3q21 |
| ABTB2 | regulation of cell growth | 11p13 |
| ACAA1 | small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; fatty acid metabolic process | 3p22.2 |
| ACAA2 | anti-apoptosis; cholesterol biosynthetic process; fatty acid beta-oxidation; fatty acid metabolic process; lipid metabolic process; acetyl-CoA metabolic process | 18q21.1 |
| ACACA | small molecule metabolic process; protein homotetramerization; lipid homeostasis; response to organic cyclic compound; cellular lipid metabolic process; response to drug; long-chain fatty-acyl-CoA biosynthetic process; tissue homeostasis; acetyl-CoA metabolic process; energy reserve metabolic process; fatty acid biosynthetic process; triglyceride biosynthetic process; positive regulation of cellular metabolic process; multicellular organismal protein metabolic process | 17q21 |
| ACACB | protein homotetramerization; regulation of fatty acid oxidation; small molecule metabolic process; cellular lipid metabolic process; positive regulation of cellular metabolic process; carnitine shuttle; fatty acid biosynthetic process; energy reserve metabolic process; acetyl-CoA metabolic process | 12q24.11 |
| ACAD10 | - | 12q24.12 |
| ACAD11 | fatty acid beta-oxidation using acyl-CoA dehydrogenase | 3q22.1 |
| ACAD8 | small molecule metabolic process; cellular nitrogen compound metabolic process; branched chain family amino acid catabolic process; lipid metabolic process; regulation of transcription, DNA-dependent | 11q25 |
| ACAD9 | - | 3q21.3 |
| ACADL | temperature homeostasis; regulation of cholesterol metabolic process; oxidation-reduction process; protein homotetramerization; negative regulation of fatty acid oxidation; small molecule metabolic process; negative regulation of fatty acid biosynthetic process; fatty acid metabolic process; fatty acid beta-oxidation; carnitine metabolic process, CoA-linked; fatty acid beta-oxidation using acyl-CoA dehydrogenase; carnitine catabolic process; long-chain fatty acid catabolic process; cellular lipid metabolic process; cellular lipid catabolic process | 2q34 |
| ACADM | carnitine biosynthetic process; medium-chain fatty acid metabolic process; medium-chain fatty acid catabolic process; oxidation-reduction process; fatty acid beta-oxidation; carnitine metabolic process, CoA-linked; fatty acid beta-oxidation using acyl-CoA dehydrogenase; small molecule metabolic process; cellular lipid metabolic process | 1p31 |
| ACADS | small molecule metabolic process; response to glucocorticoid stimulus; protein homotetramerization; butyrate catabolic process; cellular lipid metabolic process; response to starvation; fatty acid beta-oxidation using acyl-CoA dehydrogenase; fatty acid beta-oxidation; fatty acid metabolic process | 12q24.31 |
| ACADSB | cellular nitrogen compound metabolic process; lipid metabolic process; fatty acid metabolic process; acyl-CoA metabolic process; branched chain family amino acid catabolic process; small molecule metabolic process | 10q26.13 |
| ACADVL | fatty acid beta-oxidation; temperature homeostasis; regulation of cholesterol metabolic process; negative regulation of fatty acid oxidation; negative regulation of fatty acid biosynthetic process; small molecule metabolic process; cellular lipid metabolic process; very long-chain fatty acid catabolic process; fatty acid beta-oxidation using acyl-CoA dehydrogenase; endoplasmic reticulum unfolded protein response; energy derivation by oxidation of organic compounds; activation of signaling protein activity involved in unfolded protein response; fatty acid metabolic process | 17p13.1 |
| ACAN | cell adhesion; proteolysis; skeletal system development | 15q26.1 |
| ACAP1 | lipid metabolic process; protein transport; regulation of ARF GTPase activity; intracellular signal transduction | 17p13.1 |
| ACAP2 | regulation of ARF GTPase activity | 3q29 |
| ACAP2-IT1 | - | - |
| ACAP3 | filopodium assembly; regulation of ARF GTPase activity; signal transduction | - |
| ACAT1 | cellular lipid metabolic process; metanephric proximal convoluted tubule development; adipose tissue development; ketone body catabolic process; protein homooligomerization; brain development; branched chain family amino acid catabolic process; response to hormone stimulus; response to organic cyclic compound; cellular nitrogen compound metabolic process; liver development; response to starvation; small molecule metabolic process; cellular ketone body metabolic process; ketone body biosynthetic process | 11q22.3 |
| ACAT2 | lipid metabolic process | 6q25.3 |
| ACBD3 | transport; steroid biosynthetic process | 1q42.12 |
| ACBD4 | - | 17q21.31 |
| ACBD5 | transport | 10p12.1 |
| ACBD6 | - | 1q25.1 |
| ACBD7 | - | 10p13 |
| ACCS | biosynthetic process | 11p11 |
| ACCSL | biosynthetic process | 11p11.2 |
| ACD | telomere capping; skeletal system development; protein localization to chromosome, telomeric region; positive regulation of single-stranded telomeric DNA binding; positive regulation of telomerase activity; segmentation; negative regulation of telomere maintenance via telomerase; telomere assembly; protection from non-homologous end joining at telomere; embryonic limb morphogenesis; telomere maintenance; intracellular protein transport; urogenital system development | 16q22.1 |
| ACE | regulation of blood pressure; heart contraction; positive regulation of neurogenesis; positive regulation of inflammatory response; arachidonic acid secretion; peptide catabolic process; positive regulation of apoptotic process; eating behavior; hormone catabolic process; regulation of vasodilation; mononuclear cell proliferation; response to lipopolysaccharide; response to nutrient levels; sensory perception of pain; regulation of vasoconstriction; regulation of smooth muscle cell migration; proteolysis; regulation of systemic arterial blood pressure by renin-angiotensin; neutrophil mediated immunity; regulation of renal output by angiotensin; angiotensin catabolic process in blood; blood vessel remodeling; kidney development; response to hypoxia; hemopoietic stem cell differentiation | 17q23.3 |
| ACE2 | regulation of cytokine production; angiotensin catabolic process in blood; angiotensin-mediated drinking behavior; regulation of systemic arterial blood pressure by renin-angiotensin; proteolysis; response to virus; regulation of vasoconstriction; receptor biosynthetic process; regulation of cell proliferation; regulation of vasodilation; interspecies interaction between organisms; entry of virus into host cell; virion attachment, binding of host cell surface receptor; regulation of inflammatory response; positive regulation of reactive oxygen species metabolic process | Xp22 |
| ACE3P | - | 17q23.3 |
| ACER1 | ceramide catabolic process; small molecule metabolic process; sphingolipid biosynthetic process; sphingolipid metabolic process; regulation of lipid metabolic process | 19p13.3 |
| ACER2 | negative regulation of protein glycosylation in Golgi; sphingolipid biosynthetic process; response to retinoic acid; negative regulation of cell adhesion mediated by integrin; small molecule metabolic process; positive regulation of cell proliferation; ceramide metabolic process; sphingosine biosynthetic process; negative regulation of cell-matrix adhesion; lipid metabolic process; sphingolipid metabolic process | 9p22.1 |
| ACER3 | small molecule metabolic process; sphingolipid biosynthetic process; positive regulation of cell proliferation; ceramide metabolic process; sphingosine biosynthetic process; phytosphingosine biosynthetic process; sphingolipid metabolic process | 11q13.5 |
| ACHE | response to wounding; choline metabolic process; receptor internalization; negative regulation of synaptic transmission, cholinergic; synaptic transmission; neurotransmitter biosynthetic process; amyloid precursor protein metabolic process; neurotransmitter receptor biosynthetic process; regulation of dendrite morphogenesis; positive regulation of protein secretion; regulation of axonogenesis; protein tetramerization; retina development in camera-type eye; muscle organ development; acetylcholine catabolic process in synaptic cleft; regulation of receptor recycling; osteoblast development; DNA replication; acetylcholine catabolic process; cell adhesion; synaptic transmission, cholinergic; nervous system development; synapse assembly; cell proliferation | 7q22 |
| ACIN1 | positive regulation of monocyte differentiation; apoptotic chromosome condensation; erythrocyte differentiation; cellular component disassembly involved in apoptosis; apoptotic process; ATP catabolic process | 14q11.2 |
| ACKR1 | defense response; G-protein coupled receptor signaling pathway | 1q21-q22 |
| ACKR2 | - | 3p21.3 |
| ACKR3 | - | 2q37.3 |
| ACKR4 | - | 3q22 |
| ACLY | cellular carbohydrate metabolic process; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; positive regulation of cellular metabolic process; triglyceride biosynthetic process; lipid biosynthetic process; ATP catabolic process; energy reserve metabolic process; citrate metabolic process; coenzyme A metabolic process | 17q21.2 |
| ACMSD | small molecule metabolic process; tryptophan catabolic process; cellular nitrogen compound metabolic process; quinolinate metabolic process | 2q21.3 |
| ACO1 | response to iron(II) ion; intestinal absorption; regulation of gene expression; post-embryonic development; metabolic process; regulation of translation; citrate metabolic process; cellular iron ion homeostasis; tricarboxylic acid cycle | 9p21.1 |
| ACO2 | citrate metabolic process; tricarboxylic acid cycle; generation of precursor metabolites and energy; isocitrate metabolic process; small molecule metabolic process | 22q13.2 |
| ACOT1 | acyl-CoA metabolic process; lipid metabolic process; long-chain fatty acid metabolic process; very long-chain fatty acid metabolic process | 14q24.3 |
| ACOT11 | intracellular signal transduction; response to cold; response to temperature stimulus; fatty acid metabolic process | 1p32.3 |
| ACOT12 | acyl-CoA metabolic process; fatty acid metabolic process; lipid metabolic process; acetyl-CoA metabolic process | 5q14.1 |
| ACOT13 | protein homotetramerization | 6p22.3 |
| ACOT2 | very long-chain fatty acid metabolic process; long-chain fatty acid metabolic process; lipid metabolic process; acyl-CoA metabolic process | 14q24.3 |
| ACOT4 | dicarboxylic acid metabolic process; unsaturated monocarboxylic acid metabolic process; very long-chain fatty acid metabolic process; long-chain fatty acid metabolic process; short-chain fatty acid metabolic process; succinyl-CoA metabolic process; lipid metabolic process; acyl-CoA metabolic process; butyrate metabolic process; saturated monocarboxylic acid metabolic process | 14q24.3 |
| ACOT6 | - | 14q24.3 |
| ACOT7 | lipid metabolic process | 1p36 |
| ACOT8 | acyl-CoA metabolic process; interspecies interaction between organisms; small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; bile acid metabolic process; peroxisome organization; bile acid biosynthetic process | 20q13.12 |
| ACOT9 | acyl-CoA metabolic process | Xp22.11 |
| ACOX1 | generation of precursor metabolites and energy; very long-chain fatty acid metabolic process; lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; prostaglandin metabolic process; spermatogenesis; fatty acid oxidation; cellular lipid metabolic process; small molecule metabolic process | 17q25.1 |
| ACOX2 | fatty acid metabolic process; bile acid biosynthetic process; bile acid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; cellular lipid metabolic process; small molecule metabolic process | 3p14.3 |
| ACOX3 | small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; fatty acid metabolic process | 4p15.3 |
| ACOXL | fatty acid beta-oxidation | 2q13 |
| ACP1 | - | 2p25 |
| ACP2 | skeletal system development; lysosome organization; response to organic substance; dephosphorylation; autophagic cell death | 11p11.2|11p12-p11 |
| ACP5 | negative regulation of interleukin-1 beta production; response to lipopolysaccharide; negative regulation of tumor necrosis factor production; dephosphorylation; negative regulation of interleukin-12 production; negative regulation of superoxide anion generation; response to cytokine stimulus; small molecule metabolic process; negative regulation of nitric oxide biosynthetic process; bone resorption; negative regulation of inflammatory response; defense response to Gram-positive bacterium; bone morphogenesis; water-soluble vitamin metabolic process; riboflavin metabolic process; vitamin metabolic process | 19p13.2 |
| ACP6 | lipid metabolic process | 1q21 |
| ACP7 | - | 19q13.2 |
| ACPP | - | 3q22.1 |
| ACPT | - | 19q13.4 |
| ACR | response to steroid hormone stimulus; response to biotic stimulus; penetration of zona pellucida; acrosome reaction; single fertilization; activation of adenylate cyclase activity; proteolysis; acrosome matrix dispersal | 22q13.33 |
| ACRBP | - | 12p13.31 |
| ACRC | - | Xq13.1 |
| ACSBG1 | myelination; lipid metabolic process; response to glucocorticoid stimulus; very long-chain fatty acid metabolic process; long-chain fatty acid metabolic process; ovarian follicle atresia | 15q23-q24 |
| ACSBG2 | multicellular organismal development; cell differentiation; spermatogenesis; lipid metabolic process; fatty acid metabolic process | 19p13.3 |
| ACSF2 | lipid metabolic process; fatty acid metabolic process | 17q21.33 |
| ACSF3 | fatty acid biosynthetic process; lipid metabolic process; fatty acid metabolic process; malonate catabolic process | 16q24.3 |
| ACSL1 | fatty acid metabolic process; triglyceride biosynthetic process; long-chain fatty-acyl-CoA biosynthetic process; cellular lipid metabolic process; small molecule metabolic process; regulation of fatty acid oxidation | 4q35 |
| ACSL3 | brain development; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process; response to organic cyclic compound; response to nutrient; fatty acid biosynthetic process | 2q34-q35 |
| ACSL4 | positive regulation of cell growth; response to interleukin-15; dendritic spine development; embryonic process involved in female pregnancy; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process; response to nutrient; fatty acid metabolic process; lipid metabolic process | Xq22.3-q23 |
| ACSL5 | cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; cellular response to insulin stimulus; triglyceride biosynthetic process; response to sucrose stimulus; fatty acid transport; positive regulation of triglyceride biosynthetic process; positive regulation of plasma membrane long-chain fatty acid transport; response to glucose stimulus; small molecule metabolic process; response to cholesterol; response to nutrient; fatty acid metabolic process | 10q25.1-q25.2 |
| ACSL6 | acyl-CoA metabolic process; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process; neuroblast proliferation; fatty acid metabolic process | 5q31 |
| ACSM1 | butyrate metabolic process; small molecule metabolic process; fatty acid oxidation; benzoate metabolic process; energy derivation by oxidation of organic compounds; xenobiotic metabolic process; fatty acid biosynthetic process; lipid metabolic process | 16p12.3 |
| ACSM2B | small molecule metabolic process; lipid metabolic process; fatty acid metabolic process; xenobiotic metabolic process | 16p12.3 |
| ACSM3 | lipid metabolic process; regulation of blood pressure; fatty acid biosynthetic process | 16p13.11 |
| ACSM5 | fatty acid metabolic process; lipid metabolic process | 16p12.3 |
| ACSM6 | lipid metabolic process; fatty acid metabolic process | 10q23.33 |
| ACSS1 | propionate biosynthetic process; acetate biosynthetic process; xenobiotic metabolic process; acetyl-CoA biosynthetic process; ethanol oxidation; small molecule metabolic process | 20p11.23-p11.21 |
| ACSS2 | small molecule metabolic process; lipid biosynthetic process; xenobiotic metabolic process; acetyl-CoA biosynthetic process; ethanol oxidation | 20q11.22 |
| ACSS3 | - | 12q21.31 |
| ACTA1 | muscle contraction; response to mechanical stimulus; response to extracellular stimulus; response to lithium ion; cell growth; muscle filament sliding; skeletal muscle thin filament assembly; skeletal muscle fiber adaptation; response to steroid hormone stimulus; skeletal muscle fiber development | 1q42.13 |
| ACTA2 | vascular smooth muscle contraction; glomerular mesangial cell development; response to virus; muscle contraction; regulation of blood pressure | 10q23.3 |
| ACTA2-AS1 | - | 10q23.31 |
| ACTB | cellular protein metabolic process; response to calcium ion; 'de novo' posttranslational protein folding; cell-cell junction organization; adherens junction organization; cell junction assembly; blood coagulation; axon guidance; cellular component movement; protein folding | 7p22 |
| ACTBL2 | - | 5q11.2 |
| ACTBP1 | - | Xp11.3 |
| ACTBP11 | - | 1q41 |
| ACTBP13 | - | 3p21.31 |
| ACTBP14 | - | 10q22.1 |
| ACTBP2 | - | 5q14.1 |
| ACTBP7 | - | 15q15.3 |
| ACTBP8 | - | 6q15 |
| ACTBP9 | - | 18q21.33 |
| ACTC1 | apoptotic process; heart contraction; cardiac muscle tissue morphogenesis; cardiac muscle contraction; cardiac myofibril assembly; response to ethanol; response to drug; actin-myosin filament sliding; actomyosin structure organization; skeletal muscle thin filament assembly; muscle filament sliding; actin filament-based movement; ATP catabolic process | 15q14 |
| ACTG1 | cell-cell junction organization; response to calcium ion; sarcomere organization; adherens junction organization; cell junction assembly; axon guidance; cellular component movement; blood coagulation | 17q25 |
| ACTG1P1 | - | 3q23 |
| ACTG1P10 | - | Xp11.22 |
| ACTG1P12 | - | - |
| ACTG1P17 | - | 15q25.2 |
| ACTG1P20 | - | 1p36.11 |
| ACTG1P3 | - | 20p13 |
| ACTG1P9 | - | 6p12.3 |
| ACTG2 | muscle contraction | 2p13.1 |
| ACTL10 | - | 20q11.22 |
| ACTL6A | regulation of transcription from RNA polymerase II promoter; chromatin remodeling; DNA recombination; DNA repair; neural retina development; signal transduction; nervous system development; regulation of growth; histone H4 acetylation; histone H2A acetylation | 3q26.33 |
| ACTL6B | nervous system development; chromatin organization; chromatin remodeling; regulation of transcription from RNA polymerase II promoter | 7q22 |
| ACTL7B | - | 9q31 |
| ACTL8 | - | 1p36.2-p35 |
| ACTL9 | - | 19p13.2 |
| ACTN1 | platelet degranulation; blood coagulation; platelet activation; regulation of apoptotic process; focal adhesion assembly; actin filament bundle assembly; negative regulation of cellular component movement; cell junction assembly | 14q24|14q22-q24 |
| ACTN1-AS1 | - | 14q24.1 |
| ACTN2 | protein homotetramerization; focal adhesion assembly; regulation of apoptotic process; platelet activation; muscle filament sliding; microspike assembly; blood coagulation; synaptic transmission; cell adhesion; platelet degranulation | 1q42-q43 |
| ACTN3 | focal adhesion assembly; regulation of apoptotic process; muscle filament sliding | 11q13.1 |
| ACTN4 | negative regulation of cellular component movement; response to hypoxia; positive regulation of cellular component movement; actin filament bundle assembly; positive regulation of pinocytosis; regulation of apoptotic process; positive regulation of sodium:hydrogen antiporter activity; platelet activation; protein transport; blood coagulation; platelet degranulation | 19q13 |
| ACTN4P1 | - | 4q26 |
| ACTN4P2 | - | 1p34.3 |
| ACTR10 | microtubule-based movement | 14q23.1 |
| ACTR1A | vesicle-mediated transport; G2/M transition of mitotic cell cycle; mitotic cell cycle | 10q24.32 |
| ACTR1B | - | 2q11.1-q11.2 |
| ACTR2 | cellular component movement | 2p14 |
| ACTR3 | response to carbohydrate stimulus; positive regulation of filopodium assembly; cilium morphogenesis; positive regulation of lamellipodium assembly; cell projection organization; positive regulation of actin filament polymerization; regulation of myosin II filament organization; positive regulation of neuron differentiation; response to antibiotic; positive regulation of dendrite morphogenesis; cellular component movement | 2q14.1 |
| ACTR3B | regulation of actin filament polymerization | 7q36.1 |
| ACTR3BP2 | - | 2p11.1 |
| ACTR3BP4 | - | 4q24 |
| ACTR3BP6 | - | 22q11.1 |
| ACTR3C | regulation of actin filament polymerization | 7q36.1 |
| ACTR3P2 | - | Xq13.1 |
| ACTR5 | UV-damage excision repair; regulation of transcription, DNA-dependent; DNA recombination; double-strand break repair | 20q11.23 |
| ACTR6 | - | 12q23.1 |
| ACTR8 | regulation of transcription, DNA-dependent; DNA repair; cell division; DNA recombination; cell cycle; mitosis | - |
| ACTRT3 | - | 3q26.2 |
| ACVR1 | cellular response to glucocorticoid stimulus; heart development; embryo development; negative regulation of signal transduction; regulation of ossification; positive regulation of bone mineralization; BMP signaling pathway; negative regulation of activin receptor signaling pathway; negative regulation of apoptotic process; positive regulation of osteoblast differentiation; positive regulation of transcription, DNA-dependent; regulation of skeletal muscle tissue development; smooth muscle cell differentiation; pharyngeal system development; patterning of blood vessels; determination of left/right symmetry; mesoderm development; G1/S transition of mitotic cell cycle; urogenital system development; in utero embryonic development; gastrulation with mouth forming second; mesoderm formation; neural crest cell migration; acute inflammatory response; protein phosphorylation; transmembrane receptor protein serine/threonine kinase signaling pathway; transforming growth factor beta receptor signaling pathway; germ cell | 2q23-q24 |
| ACVR1B | protein autophosphorylation; positive regulation of erythrocyte differentiation; positive regulation of activin receptor signaling pathway; activin receptor signaling pathway; negative regulation of cell growth; induction of apoptosis; peptidyl-threonine phosphorylation; signal transduction; protein phosphorylation; regulation of transcription, DNA-dependent; G1/S transition of mitotic cell cycle; transmembrane receptor protein serine/threonine kinase signaling pathway | 12q13 |
| ACVR1C | cell differentiation; response to insulin stimulus; lipid storage; response to glucose stimulus; regulation of apoptotic process; negative regulation of insulin secretion; response to dietary excess; protein phosphorylation | 2q24.1 |
| ACVR2A | regulation of BMP signaling pathway; activin receptor signaling pathway; positive regulation of activin receptor signaling pathway; sperm ejaculation; penile erection; positive regulation of erythrocyte differentiation; positive regulation of osteoblast differentiation; positive regulation of follicle-stimulating hormone secretion; embryonic skeletal system development; regulation of nitric-oxide synthase activity; anterior/posterior pattern specification; Sertoli cell proliferation; positive regulation of bone mineralization; response to organic substance; BMP signaling pathway; mesoderm development; determination of left/right symmetry; spermatogenesis; transmembrane receptor protein serine/threonine kinase signaling pathway; positive regulation of protein phosphorylation; gastrulation with mouth forming second | 2q22.3 |
| ACVR2B | insulin secretion; lung development; positive regulation of bone mineralization; BMP signaling pathway; pancreas development; activation of protein kinase activity; positive regulation of activin receptor signaling pathway; organ growth; odontogenesis of dentin-containing tooth; positive regulation of osteoblast differentiation; embryonic foregut morphogenesis; skeletal system morphogenesis; palate development; post-embryonic development; gastrulation with mouth forming second; kidney development; regulation of transcription, DNA-dependent; signal transduction; transmembrane receptor protein serine/threonine kinase signaling pathway; determination of left/right symmetry; pattern specification process; mesoderm development; heart development; response to glucose stimulus; anterior/posterior pattern specification | 3p22 |
| ACVR2B-AS1 | - | 3p22.2 |
| ACVRL1 | blood circulation; regulation of blood pressure; negative regulation of cell proliferation; negative regulation of focal adhesion assembly; negative regulation of endothelial cell migration; negative regulation of cell growth; negative regulation of cell migration; positive regulation of BMP signaling pathway; wound healing, spreading of epidermal cells; regulation of blood vessel endothelial cell migration; negative regulation of endothelial cell differentiation; positive regulation of endothelial cell differentiation; positive regulation of transcription, DNA-dependent; protein heterooligomerization; protein phosphorylation; transmembrane receptor protein serine/threonine kinase signaling pathway; signal transduction; negative regulation of cell adhesion; regulation of transcription, DNA-dependent; regulation of DNA replication; blood vessel endothelial cell proliferation involved in sprouting angiogenesis; blood vessel maturation; positive regulation of endothelial cell proliferation; negative regulation o | 12q13.13 |
| ACY1 | proteolysis; metabolic process; cellular amino acid metabolic process | 3p21.1 |
| ACY3 | metabolic process; interspecies interaction between organisms | 11q13.2 |
| ACYP1 | phosphate-containing compound metabolic process | 14q24.3 |
| ACYP2 | phosphate-containing compound metabolic process | 2p16.2 |
| ADA | negative regulation of circadian sleep/wake cycle, non-REM sleep; response to hydrogen peroxide; negative regulation of apoptotic process; purine-containing compound salvage; hypoxanthine salvage; response to morphine; small molecule metabolic process; regulation of circadian sleep/wake cycle, sleep; positive regulation of smooth muscle contraction; dATP catabolic process; inosine biosynthetic process; xanthine biosynthetic process; positive regulation of alpha-beta T cell differentiation; lung alveolus development; Peyer's patch development; embryonic digestive tract development; negative regulation of inflammatory response; positive regulation of calcium-mediated signaling; positive regulation of T cell receptor signaling pathway; nucleobase-containing small molecule metabolic process; negative regulation of adenosine receptor signaling pathway; negative regulation of penile erection; negative regulation of thymocyte apoptosis; negative regulation of mucus secretion; regulation of cell-cell adhesion mediate | 20q13.12 |
| ADAD1 | cell differentiation; spermatid development; spermatogenesis; multicellular organismal development; RNA processing | 4q27 |
| ADAD2 | RNA processing | 16q24.1 |
| ADAL | nucleotide metabolic process; inosine biosynthetic process; hypoxanthine salvage; purine ribonucleoside monophosphate biosynthetic process; adenosine catabolic process | 15q15.3 |
| ADAM10 | in utero embryonic development; protein phosphorylation; proteolysis; membrane protein ectodomain proteolysis; negative regulation of cell adhesion; epidermal growth factor receptor signaling pathway; Notch signaling pathway; integrin-mediated signaling pathway; cell-cell signaling; positive regulation of cell proliferation; positive regulation of T cell chemotaxis; positive regulation of cell growth; positive regulation of cell migration; response to tumor necrosis factor; monocyte activation; PMA-inducible membrane protein ectodomain proteolysis; constitutive protein ectodomain proteolysis; Notch receptor processing | 15q22 |
| ADAM11 | proteolysis; integrin-mediated signaling pathway | 17q21.3 |
| ADAM12 | myoblast fusion; epidermal growth factor receptor signaling pathway; cell adhesion; proteolysis | 10q26.3 |
| ADAM15 | cardiac epithelial to mesenchymal transition; angiogenesis; proteolysis; cell adhesion; cell-matrix adhesion; collagen catabolic process; tissue regeneration | 1q21.3 |
| ADAM17 | T cell differentiation in thymus; regulation of mast cell apoptosis; positive regulation of chemokine production; negative regulation of interleukin-8 production; response to lipopolysaccharide; positive regulation of cyclin-dependent protein kinase activity involved in G1/S; membrane protein intracellular domain proteolysis; positive regulation of transforming growth factor beta receptor signaling pathway; positive regulation of cell migration; PMA-inducible membrane protein ectodomain proteolysis; positive regulation of cell growth; cell adhesion mediated by integrin; wound healing, spreading of epidermal cells; epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway; response to drug; positive regulation of epidermal growth factor-activated receptor activity; nerve growth factor receptor signaling pathway; spleen development; cell motility; positive regulation of cellular component movement; response to high density lipoprotein particle stimulus; JAK-STAT | 2p25 |
| ADAM18 | cell differentiation; proteolysis; spermatogenesis; multicellular organismal development | 8p11.22 |
| ADAM19 | proteolysis | 5q33.3 |
| ADAM1A | - | 12q24.13 |
| ADAM2 | proteolysis; cell adhesion; fusion of sperm to egg plasma membrane; visual learning; adult behavior | 8p11.2 |
| ADAM20 | single fertilization; proteolysis | 14q24.1 |
| ADAM20P1 | - | 14q24.2 |
| ADAM20P2 | - | - |
| ADAM21 | single fertilization; proteolysis | 14q24.1 |
| ADAM22 | proteolysis; negative regulation of cell adhesion; central nervous system development | 7q21 |
| ADAM23 | central nervous system development; cell adhesion; proteolysis | 2q33 |
| ADAM24P | - | 8p22 |
| ADAM28 | proteolysis; spermatogenesis | 8p21.2 |
| ADAM30 | proteolysis | 1p12 |
| ADAM32 | proteolysis | 8p11.22 |
| ADAM33 | proteolysis; integrin-mediated signaling pathway | 20p13 |
| ADAM3A | - | 8p11.23 |
| ADAM5 | - | 8p11.22 |
| ADAM6 | - | 14q32.33 |
| ADAM7 | proteolysis | 8p21.2 |
| ADAM8 | proteolysis; lymphocyte chemotaxis; cell morphogenesis; angiogenesis; leukocyte migration involved in inflammatory response; positive regulation of acute inflammatory response; positive regulation of leukocyte migration; positive regulation of cellular extravasation; inflammatory response; positive regulation of protein processing; regulation of cell-cell adhesion; positive regulation of cell migration; positive regulation of membrane protein ectodomain proteolysis; positive regulation of protein secretion; positive regulation of T cell differentiation in thymus; positive regulation of NF-kappaB transcription factor activity; positive regulation of protein kinase B signaling cascade; positive regulation of thymocyte apoptosis; cellular response to hypoxia; activation of MAPK activity involved in innate immune response; positive regulation of cell adhesion; positive regulation of bone resorption; negative regulation of neuron apoptosis; positive regulation of tumor necrosis factor (ligand) superfamily member 1 | 10q26.3 |
| ADAM9 | response to calcium ion; transforming growth factor beta receptor signaling pathway; cell-matrix adhesion; integrin-mediated signaling pathway; response to manganese ion; keratinocyte differentiation; cell adhesion; membrane protein ectodomain proteolysis; proteolysis; cell adhesion mediated by integrin; positive regulation of cell adhesion mediated by integrin; cell-cell adhesion mediated by integrin; positive regulation of macrophage fusion; response to tumor necrosis factor; monocyte activation; positive regulation of keratinocyte migration; response to glucocorticoid stimulus; PMA-inducible membrane protein ectodomain proteolysis; positive regulation of membrane protein ectodomain proteolysis; positive regulation of protein secretion; activation of MAPKK activity; response to hydrogen peroxide | 8p11.22 |
| ADAMDEC1 | proteolysis; immune response; negative regulation of cell adhesion | 8p21.2 |
| ADAMTS1 | kidney development; ovulation from ovarian follicle; heart trabecula formation; negative regulation of cell proliferation; integrin-mediated signaling pathway; proteolysis | 21q21.2 |
| ADAMTS10 | proteolysis; integrin-mediated signaling pathway | 19p13.2 |
| ADAMTS12 | proteolysis | 5q35 |
| ADAMTS13 | response to interferon-gamma; response to interleukin-4; peptide catabolic process; response to chemical stimulus; response to tumor necrosis factor; platelet activation; protein processing; glycoprotein metabolic process; metabolic process; proteolysis; cell-matrix adhesion; integrin-mediated signaling pathway | 9q34 |
| ADAMTS14 | proteolysis; collagen catabolic process | 10q21 |
| ADAMTS15 | proteolysis | 11q25 |
| ADAMTS16 | proteolysis | 5p15 |
| ADAMTS17 | proteolysis | 15q24 |
| ADAMTS18 | proteolysis | 16q23 |
| ADAMTS19 | proteolysis | 5q23.3 |
| ADAMTS2 | skin development; collagen catabolic process; lung development; collagen fibril organization; proteolysis; spermatogenesis; metabolic process; protein processing | 5qter |
| ADAMTS20 | negative regulation of apoptotic process; positive regulation of melanocyte differentiation; proteolysis; positive regulation of signal transduction; extracellular matrix organization; regulation of developmental pigmentation | 12q12 |
| ADAMTS3 | collagen catabolic process; collagen fibril organization; protein processing; proteolysis | 4q13.3 |
| ADAMTS4 | proteolysis; skeletal system development | 1q21-q23 |
| ADAMTS5 | proteolysis | 21q21.3 |
| ADAMTS6 | proteolysis | 5q12 |
| ADAMTS7 | proteolysis | 15q24.2 |
| ADAMTS7P1 | - | - |
| ADAMTS8 | negative regulation of cell proliferation; proteolysis | 11q25 |
| ADAMTS9 | positive regulation of melanocyte differentiation; multicellular organismal development; glycoprotein catabolic process; regulation of developmental pigmentation; proteolysis | 3p14.1 |
| ADAMTS9-AS2 | - | - |
| ADAMTSL1 | - | 9p21.3 |
| ADAMTSL2 | negative regulation of transforming growth factor beta receptor signaling pathway | 9q34.2 |
| ADAMTSL3 | - | 15q25.2 |
| ADAMTSL4 | extracellular matrix organization; positive regulation of apoptotic process | 1q21.3 |
| ADAMTSL5 | - | 19p13.3 |
| ADAP1 | cell surface receptor signaling pathway; regulation of ARF GTPase activity; regulation of GTPase activity | 7p22.3 |
| ADAP2 | heart development; positive regulation of GTPase activity; regulation of ARF GTPase activity | 17q11.2 |
| ADAR | gene expression; type I interferon-mediated signaling pathway; negative regulation of apoptotic process; gene silencing by RNA; cytokine-mediated signaling pathway; mRNA modification; base conversion or substitution editing; mRNA processing; adenosine to inosine editing | 1q21.3 |
| ADARB1 | base conversion or substitution editing; mRNA modification; gene expression; RNA processing; adenosine to inosine editing; mRNA processing | 21q22.3 |
| ADARB2 | RNA processing; mRNA processing | 10p15.3 |
| ADARB2-AS1 | - | 10p15.3 |
| ADAT1 | RNA processing; tRNA processing | 16q23.1 |
| ADAT2 | tRNA processing | 6q24.2 |
| ADAT3 | tRNA processing | 19p13.3 |
| ADCK1 | - | 14q24.3 |
| ADCK2 | - | 7q34 |
| ADCK3 | cell death | 1q42.13 |
| ADCK4 | - | 19q13.2 |
| ADCK5 | - | 8q24.3 |
| ADCY1 | long-term memory; cellular response to glucagon stimulus; transmembrane transport; nerve growth factor receptor signaling pathway; small molecule metabolic process; response to drug; intracellular signal transduction; activation of protein kinase A activity; response to lithium ion; fibroblast growth factor receptor signaling pathway; circadian rhythm; axonogenesis; activation of phospholipase C activity; energy reserve metabolic process; cAMP biosynthetic process; GTP catabolic process; water transport; signal transduction; epidermal growth factor receptor signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; synaptic transmission | 7p13-p12 |
| ADCY10 | positive regulation of apoptotic process; intracellular signal transduction; spermatogenesis; cAMP biosynthetic process | 1q24 |
| ADCY10P1 | - | 6p21.1 |
| ADCY2 | activation of protein kinase A activity; transmembrane transport; nerve growth factor receptor signaling pathway; small molecule metabolic process; intracellular signal transduction; cellular response to glucagon stimulus; fibroblast growth factor receptor signaling pathway; synaptic transmission; activation of phospholipase C activity; activation of adenylate cyclase activity by G-protein signaling pathway; epidermal growth factor receptor signaling pathway; signal transduction; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process; inhibition of adenylate cyclase activity by G-protein signaling pathway | 5p15.3 |
| ADCY3 | activation of phospholipase C activity; response to stimulus; synaptic transmission; sensory perception of smell; fibroblast growth factor receptor signaling pathway; activation of protein kinase A activity; intracellular signal transduction; small molecule metabolic process; nerve growth factor receptor signaling pathway; transmembrane transport; cellular response to glucagon stimulus; activation of adenylate cyclase activity by G-protein signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; energy reserve metabolic process; cAMP biosynthetic process; GTP catabolic process; water transport; female meiosis; signal transduction; epidermal growth factor receptor signaling pathway | 2p23.3 |
| ADCY4 | inhibition of adenylate cyclase activity by G-protein signaling pathway; fibroblast growth factor receptor signaling pathway; activation of protein kinase A activity; synaptic transmission; intracellular signal transduction; small molecule metabolic process; nerve growth factor receptor signaling pathway; transmembrane transport; epidermal growth factor receptor signaling pathway; signal transduction; cellular response to glucagon stimulus; water transport; GTP catabolic process; cAMP biosynthetic process; activation of phospholipase C activity; activation of adenylate cyclase activity by G-protein signaling pathway; energy reserve metabolic process; G-protein signaling, coupled to cAMP nucleotide second messenger | 14q12 |
| ADCY5 | cellular response to glucagon stimulus; transmembrane transport; nerve growth factor receptor signaling pathway; small molecule metabolic process; intracellular signal transduction; activation of protein kinase A activity; fibroblast growth factor receptor signaling pathway; synaptic transmission; activation of adenylate cyclase activity by G-protein signaling pathway; activation of phospholipase C activity; inhibition of adenylate cyclase activity by G-protein signaling pathway; epidermal growth factor receptor signaling pathway; signal transduction; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process | 3q21.1 |
| ADCY6 | transmembrane transport; nerve growth factor receptor signaling pathway; cellular response to glucagon stimulus; small molecule metabolic process; intracellular signal transduction; activation of protein kinase A activity; fibroblast growth factor receptor signaling pathway; synaptic transmission; activation of phospholipase C activity; activation of adenylate cyclase activity by G-protein signaling pathway; epidermal growth factor receptor signaling pathway; signal transduction; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process; inhibition of adenylate cyclase activity by G-protein signaling pathway | 12q12-q13 |
| ADCY7 | fibroblast growth factor receptor signaling pathway; synaptic transmission; positive regulation of cAMP biosynthetic process; activation of protein kinase A activity; intracellular signal transduction; small molecule metabolic process; nerve growth factor receptor signaling pathway; transmembrane transport; cellular response to ethanol; cellular response to glucagon stimulus; inhibition of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; epidermal growth factor receptor signaling pathway; signal transduction; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process; activation of phospholipase C activity | 16q12.1 |
| ADCY8 | transmembrane transport; synaptic transmission; learning or memory; fibroblast growth factor receptor signaling pathway; cellular response to glucagon stimulus; cAMP-mediated signaling; activation of protein kinase A activity; intracellular signal transduction; small molecule metabolic process; nerve growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; inhibition of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; signal transduction; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process; activation of phospholipase C activity | 8q24 |
| ADCY9 | activation of phospholipase C activity; epidermal growth factor receptor signaling pathway; synaptic transmission; fibroblast growth factor receptor signaling pathway; activation of protein kinase A activity; intracellular signal transduction; small molecule metabolic process; nerve growth factor receptor signaling pathway; transmembrane transport; cellular response to glucagon stimulus; inhibition of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity by G-protein signaling pathway; signal transduction; water transport; GTP catabolic process; cAMP biosynthetic process; energy reserve metabolic process | 16p13.3 |
| ADCYAP1 | negative regulation of cell cycle; nerve growth factor receptor signaling pathway; regulation of G-protein coupled receptor protein signaling pathway; female pregnancy; cell-cell signaling; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction; activation of adenylate cyclase activity | 18p11 |
| ADCYAP1R1 | cell differentiation; positive regulation of inositol phosphate biosynthetic process; negative regulation of cell death; nerve growth factor receptor signaling pathway; development of primary female sexual characteristics; response to ethanol; response to drug; multicellular organismal response to stress; response to estradiol stimulus; positive regulation of cAMP biosynthetic process; cAMP-mediated signaling; positive regulation of calcium ion transport into cytosol; spermatogenesis; multicellular organismal development; activation of phospholipase C activity; activation of adenylate cyclase activity; transmembrane receptor protein tyrosine kinase signaling pathway; cell surface receptor signaling pathway | 7p14 |
| ADD1 | endoplasmic reticulum unfolded protein response; actin filament bundle assembly; barbed-end actin filament capping; positive regulation of protein binding; actin cytoskeleton organization; cellular component disassembly involved in apoptosis; apoptotic process; activation of signaling protein activity involved in unfolded protein response | 4p16.3 |
| ADD2 | ion transport; actin cytoskeleton organization; hemopoiesis; positive regulation of protein binding; barbed-end actin filament capping; actin filament bundle assembly | 2p13.3 |
| ADD3 | response to drug | 10q25.2 |
| ADD3-AS1 | - | - |
| ADGB | proteolysis; oxygen transport | 6q24.3 |
| ADGRA1 | G-protein coupled receptor signaling pathway; signal transduction | 10q26 |
| ADGRA2 | regulation of chemotaxis; endothelial cell migration; regulation of angiogenesis; central nervous system development; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; sprouting angiogenesis | 8p11.23 |
| ADGRA3 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 4p15.2 |
| ADGRB1 | signal transduction; negative regulation of angiogenesis; negative regulation of cell proliferation; peripheral nervous system development; axonogenesis; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; cell adhesion | 8q24.3 |
| ADGRB2 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; negative regulation of angiogenesis | 1p35 |
| ADGRB3 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; negative regulation of angiogenesis | 6q12 |
| ADGRD1 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 12q24.33 |
| ADGRE1 | G-protein coupled receptor signaling pathway; cell adhesion; neuropeptide signaling pathway | 19p13.3 |
| ADGRE2 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; cell adhesion | 19p13.1 |
| ADGRE3 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 19p13.1 |
| ADGRE4P | - | 19p13.3 |
| ADGRE5 | cellular component movement; inflammatory response; immune response; cell adhesion; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; cell-cell signaling | 19p13 |
| ADGRF1 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 6p12.3 |
| ADGRF2 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 6p12.3 |
| ADGRF3 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 2p23.3 |
| ADGRF4 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 6p12.3 |
| ADGRF5 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 6p12.3 |
| ADGRG1 | brain development; cell-cell signaling; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; cell adhesion | 16q13 |
| ADGRG2 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; spermatogenesis | Xp22.13 |
| ADGRG3 | neuropeptide signaling pathway | 16q21 |
| ADGRG4 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | Xq26.3 |
| ADGRG5 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 16q21 |
| ADGRG6 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 6q24.1 |
| ADGRG7 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 3q12.2 |
| ADGRL1 | neuropeptide signaling pathway; brain development; G-protein coupled receptor signaling pathway | 19p13.2 |
| ADGRL2 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 1p31.1 |
| ADGRL3 | neuropeptide signaling pathway; G-protein coupled receptor signaling pathway | 4q13.1 |
| ADGRL4 | G-protein coupled receptor signaling pathway; neuropeptide signaling pathway | 1p33-p32 |
| ADGRV1 | maintenance of organ identity; inner ear receptor stereocilium organization; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; nervous system development; sensory perception of sound; cell-cell adhesion; sensory perception of light stimulus; photoreceptor cell maintenance; detection of mechanical stimulus involved in sensory perception of sound; response to stimulus; neurological system process; inner ear development | 5q13 |
| ADH1A | xenobiotic metabolic process; transcription, DNA-dependent; ethanol oxidation; alcohol metabolic process; small molecule metabolic process | 4q23 |
| ADH1B | xenobiotic metabolic process; ethanol oxidation; small molecule metabolic process | 4q23 |
| ADH1C | ethanol oxidation; xenobiotic metabolic process; small molecule metabolic process | 4q23 |
| ADH5 | response to redox state; response to nitrosative stress; formaldehyde catabolic process; positive regulation of blood pressure; retinoid metabolic process; respiratory system process; ethanol catabolic process; ethanol oxidation; aging; peptidyl-cysteine S-nitrosylation; response to lipopolysaccharide | 4q23 |
| ADH5P2 | - | 1p31.1 |
| ADH5P3 | - | 1q43 |
| ADH5P4 | - | 6q12 |
| ADH6 | response to ethanol; small molecule metabolic process; xenobiotic metabolic process; ethanol oxidation | 4q23 |
| ADH7 | oxidation-reduction process; retinoid metabolic process; ethanol oxidation; xenobiotic metabolic process; response to bacterium; negative regulation of signal transduction; fatty acid omega-oxidation; small molecule metabolic process; response to ethanol | 4q23-q24 |
| ADHFE1 | molecular hydrogen transport; 2-oxoglutarate metabolic process; small molecule metabolic process | 8q13.1 |
| ADI1 | L-methionine salvage from methylthioadenosine; oxidation-reduction process; small molecule metabolic process; methionine biosynthetic process; cellular amino acid biosynthetic process; cellular nitrogen compound metabolic process; polyamine metabolic process; sulfur amino acid metabolic process | 2p25.3 |
| ADIG | positive regulation of fat cell differentiation; brown fat cell differentiation; white fat cell differentiation | 20q11.23 |
| ADIPOQ-AS1 | - | - |
| ADIPOR1 | lipid metabolic process; fatty acid oxidation; hormone-mediated signaling pathway | 1q32.1 |
| ADIPOR2 | fatty acid oxidation; hormone-mediated signaling pathway; lipid metabolic process | 12p13.31 |
| ADIRF | - | 10q23.2 |
| ADIRF-AS1 | - | 10q23.2 |
| ADK | purine-containing compound salvage; positive regulation of T cell proliferation; ribonucleoside monophosphate biosynthetic process; dATP biosynthetic process; AMP biosynthetic process; purine ribonucleoside salvage; purine base metabolic process; small molecule metabolic process; adenosine metabolic process; nucleobase-containing small molecule metabolic process | 10q22|10q11-q24 |
| ADM | neuron projection regeneration; receptor internalization; response to lipopolysaccharide; organ regeneration; response to insulin stimulus; negative regulation of cell proliferation; response to cold; response to wounding; response to organic substance; positive regulation of heart rate; cAMP-mediated signaling; positive regulation of cAMP biosynthetic process; odontogenesis of dentin-containing tooth; response to starvation; positive regulation of anti-apoptosis; negative regulation of vasoconstriction; spongiotrophoblast layer development; branching involved in embryonic placenta morphogenesis; calcium ion homeostasis; response to glucocorticoid stimulus; developmental growth; hormone secretion; neural tube closure; positive regulation of vasodilation; androgen metabolic process; positive regulation of cell proliferation; vasculogenesis; response to hypoxia; regulation of the force of heart contraction; G-protein coupled receptor internalization; cAMP biosynthetic process; progesterone biosynthetic process; | 11p15.4 |
| ADM2 | protein phosphorylation; negative regulation of blood pressure; positive regulation of angiogenesis; positive regulation of gene expression; feeding behavior; digestion; activation of adenylate cyclase activity by G-protein signaling pathway; angiogenesis | 22q13.33 |
| ADM5 | - | 19q13.33 |
| ADNP | neuroprotection; nitric oxide homeostasis; estrous cycle phase; positive regulation of synapse assembly; negative regulation of synaptic transmission; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of axon extension; response to carbohydrate stimulus; short-term memory; negative regulation of neuron apoptosis; activation of protein kinase activity; negative regulation of protein binding; cellular response to extracellular stimulus; positive regulation of cGMP biosynthetic process; positive regulation of neuron projection development; regulation of protein ADP-ribosylation; negative regulation of gene expression; response to inorganic substance | 20q13.13 |
| ADNP2 | neuron differentiation; positive regulation of cell growth; cellular response to retinoic acid; negative regulation of cell death; cellular response to oxidative stress | 18q23 |
| ADO | - | 10q21.3 |
| ADORA1 | negative regulation of glutamate secretion; negative regulation of blood pressure; positive regulation of epidermal growth factor-activated receptor activity; positive regulation of blood pressure; positive regulation of potassium ion transport; negative regulation of apoptotic process; negative regulation of circadian sleep/wake cycle, non-REM sleep; negative regulation of renal sodium excretion; positive regulation of protein dephosphorylation; positive regulation of nucleoside transport; negative regulation of synaptic transmission, GABAergic; negative regulation of neurotrophin production; negative regulation of heart contraction; negative regulation of vasodilation; negative regulation of hormone secretion; regulation of synaptic plasticity; cognition; detection of temperature stimulus involved in sensory perception of pain; negative regulation of lipid catabolic process; negative regulation of synaptic transmission, glutamatergic; negative regulation of cardiac muscle contraction; regulation of excitato | 1q32.1 |
| ADORA2A | inflammatory response; cellular defense response; transmembrane receptor protein tyrosine kinase signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of adenylate cyclase activity; cell-cell signaling; central nervous system development; blood coagulation; sensory perception; blood circulation; nerve growth factor receptor signaling pathway; apoptotic process; phagocytosis; cAMP biosynthetic process | 22q11.23 |
| ADORA2B | cellular response to extracellular stimulus; positive regulation of cGMP biosynthetic process; positive regulation of cAMP biosynthetic process; positive regulation of steroid biosynthetic process; positive regulation of norepinephrine secretion; positive regulation vascular endothelial growth factor production; negative regulation of cell proliferation; positive regulation of cell proliferation; positive regulation of guanylate cyclase activity; positive regulation of chemokine production; positive regulation of interleukin-6 production; negative regulation of collagen biosynthetic process; positive regulation of mast cell degranulation; regulation of angiogenesis; positive regulation of vasodilation; relaxation of vascular smooth muscle; JNK cascade; activation of adenylate cyclase activity; activation of adenylate cyclase activity by G-protein signaling pathway; G-protein coupled receptor signaling pathway; cellular defense response; positive regulation of chronic inflammatory response to non-antigenic sti | 17p12 |
| ADORA3 | signal transduction; inflammatory response; activation of adenylate cyclase activity; regulation of heart contraction; response to wounding | 1p13.2 |
| ADPGK | glycolysis; carbohydrate metabolic process | 15q24.1 |
| ADPRH | protein modification process; protein de-ADP-ribosylation | 3q13.31-q13.33 |
| ADPRHL1 | protein de-ADP-ribosylation | 13q34 |
| ADPRHL2 | - | 1p34.3 |
| ADPRM | - | 17p13.1 |
| ADRA1A | cell-cell signaling; elevation of cytosolic calcium ion concentration; aging; intracellular protein kinase cascade; activation of phospholipase C activity; G-protein coupled receptor signaling pathway; signal transduction; response to stress; smooth muscle contraction; apoptotic process; response to hormone stimulus; positive regulation of protein kinase C signaling cascade; positive regulation of ERK1 and ERK2 cascade; positive regulation of cardiac muscle contraction; calcium ion transport into cytosol; positive regulation of vasoconstriction; positive regulation of action potential; response to drug; negative regulation of cell proliferation; negative regulation of Rho protein signal transduction; negative regulation of synaptic transmission, GABAergic | 8p21.2 |
| ADRA1B | G-protein signaling, coupled to cAMP nucleotide second messenger; multicellular organismal development; cell-cell signaling; adult heart development; intracellular protein kinase cascade; blood vessel remodeling; response to amphetamine; vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure; positive regulation of heart rate by epinephrine-norepinephrine; positive regulation of the force of heart contraction by epinephrine-norepinephrine; G-protein coupled receptor signaling pathway; locomotory behavior; cell proliferation; visual learning; cell growth; organ growth; glucose homeostasis; response to morphine; negative regulation of glycogen catabolic process; positive regulation of glycogen catabolic process; behavioral response to cocaine | 5q33.3 |
| ADRA1D | cell proliferation; multicellular organismal development; cell-cell signaling; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein coupled receptor signaling pathway; DNA metabolic process; norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure; negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure; positive regulation of cell proliferation | 20p13 |
| ADRA2A | negative regulation of norepinephrine secretion; intestinal absorption; negative regulation of lipid catabolic process; positive regulation of membrane protein ectodomain proteolysis; negative regulation of calcium ion transport via voltage-gated calcium channel activity; negative regulation of insulin secretion involved in cellular response to glucose stimulus; negative regulation of adrenergic receptor signaling pathway; inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway; activation of phospholipase C activity by adrenergic receptor signaling pathway; activation of MAPK activity by adrenergic receptor signaling pathway; positive regulation of wound healing; actin cytoskeleton organization; small molecule metabolic process; positive regulation of cell proliferation; blood coagulation; Rho protein signal transduction; Ras protein signal transduction; regulation of insulin secretion; negative regulation of insulin secretion; negative regulation of calcium ion-dependent exocytosis | 10q25.2 |
| ADRA2B | positive regulation of uterine smooth muscle contraction; MAPK cascade; positive regulation of blood pressure; positive regulation of neuron differentiation; epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway; negative regulation of epinephrine secretion; activation of protein kinase B activity; platelet activation; negative regulation of norepinephrine secretion; blood coagulation; cell-cell signaling; G-protein coupled receptor signaling pathway; regulation of vascular smooth muscle contraction; angiogenesis; activation of MAPK activity by adrenergic receptor signaling pathway | 2q11.1 |
| ADRA2C | energy reserve metabolic process; G-protein coupled receptor signaling pathway; cell-cell signaling; blood coagulation; negative regulation of norepinephrine secretion; platelet activation; activation of protein kinase B activity; negative regulation of epinephrine secretion; epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway; positive regulation of neuron differentiation; regulation of insulin secretion; activation of MAPK activity by adrenergic receptor signaling pathway; small molecule metabolic process | 4p16 |
| ADRB1 | sensory perception of pain; positive regulation of heart rate by epinephrine-norepinephrine; diet induced thermogenesis; vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure; positive regulation of the force of heart contraction by norepinephrine; positive regulation of systemic arterial blood pressure; glycogen catabolic process; apoptotic process; activation of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity; Rho protein signal transduction; aging; memory; response to cold; positive regulation of cAMP biosynthetic process; heat generation; negative regulation of urine volume; negative regulation of multicellular organism growth; wound healing; fear response; negative regulation of smooth muscle contraction; positive regulation of saliva secretion; brown fat cell differentiation; positive regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of inhibitory postsynaptic memb | 10q25.3 |
| ADRB2 | vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure; positive regulation of sodium ion transport; positive regulation of heart contraction; bone resorption; positive regulation of MAPK cascade; positive regulation of potassium ion transport; positive regulation of apoptotic process; wound healing; negative regulation of multicellular organism growth; negative regulation of urine volume; synaptic transmission, glutamatergic; heat generation; positive regulation of bone mineralization; negative regulation of ossification; positive regulation of vasodilation; response to cold; endosome to lysosome transport; positive regulation of cell proliferation; activation of adenylate cyclase activity; activation of adenylate cyclase activity by G-protein signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of transmembrane receptor protein tyrosine kinase activity; cell surface receptor signaling pathway; receptor-mediated endocyt | 5q31-q32 |
| ADRBK1 | heart development; cardiac muscle contraction; nerve growth factor receptor signaling pathway; regulation of the force of heart contraction; desensitization of G-protein coupled receptor protein signaling pathway; negative regulation of the force of heart contraction by chemical signal; response to oxidative stress; signal transduction; epidermal growth factor receptor signaling pathway; activation of phospholipase C activity; G-protein coupled acetylcholine receptor signaling pathway; tachykinin receptor signaling pathway; aging; fibroblast growth factor receptor signaling pathway; response to organic cyclic compound; peptidyl-serine phosphorylation; peptidyl-threonine phosphorylation; receptor internalization; positive regulation of catecholamine secretion; termination of G-protein coupled receptor signaling pathway; response to hydrogen peroxide; follicle-stimulating hormone signaling pathway; negative regulation of striated muscle contraction | 11q13.1 |
| ADRBK2 | protein phosphorylation; signal transduction; receptor internalization; termination of G-protein coupled receptor signaling pathway | 22q12.1 |
| ADRM1 | transcription elongation from RNA polymerase II promoter; positive regulation of endopeptidase activity; proteasome assembly | 20q13.33 |
| ADSL | protein tetramerization; nucleobase-containing small molecule metabolic process; small molecule metabolic process; purine ribonucleoside monophosphate biosynthetic process; aerobic respiration; response to nutrient; AMP biosynthetic process; purine nucleotide biosynthetic process; purine base metabolic process; response to hypoxia | 22q13.2 |
| ADSS | immune system process; purine base metabolic process; purine nucleotide biosynthetic process; AMP biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 1q44 |
| ADSSL1 | nucleobase-containing small molecule metabolic process; small molecule metabolic process; purine ribonucleoside monophosphate biosynthetic process; AMP biosynthetic process; purine nucleotide biosynthetic process; purine base metabolic process; immune system process | 14q32.33 |
| ADTRP | - | 6p24.1 |
| AEBP1 | regulation of transcription, DNA-dependent; muscle organ development; cell adhesion; proteolysis; skeletal system development | 7p13 |
| AEBP2 | regulation of transcription, DNA-dependent; chromatin modification | 12p12.3 |
| AEN | apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; response to DNA damage stimulus; response to ionizing radiation | 15q26.1 |
| AES | negative regulation of transcription, DNA-dependent; cellular response to extracellular stimulus; negative regulation of protein binding; Wnt receptor signaling pathway; organ morphogenesis; multicellular organismal development; regulation of transcription from RNA polymerase II promoter; skeletal system development; regulation of growth; negative regulation of transcription from RNA polymerase II promoter; negative regulation of canonical Wnt receptor signaling pathway; response to interleukin-1; negative regulation of response to cytokine stimulus | 19p13.3 |
| AF357530 | - | 4q21.1 |
| AFAP1 | - | 4p16 |
| AFAP1-AS1 | - | 4p16.1 |
| AFAP1L1 | - | 5q32 |
| AFAP1L2 | positive regulation of protein tyrosine kinase activity; positive regulation of transcription, DNA-dependent; positive regulation of epidermal growth factor receptor signaling pathway; positive regulation of interleukin-8 production; regulation of interleukin-6 production; regulation of mitotic cell cycle; inflammatory response | 10q25.3 |
| AFF1 | regulation of transcription, DNA-dependent | 4q21 |
| AFF2 | mRNA processing; brain development; regulation of RNA splicing; learning or memory | Xq28 |
| AFF3 | embryonic hindlimb morphogenesis; response to tumor necrosis factor; regulation of transcription, DNA-dependent | 2q11.2-q12 |
| AFF4 | spermatid development; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 5q31 |
| AFG3L1P | - | 16q24.3 |
| AFG3L2 | nerve development; proteolysis; axonogenesis; neuromuscular junction development; cell death; righting reflex; muscle fiber development; myelination; regulation of multicellular organism growth; protein catabolic process | 18p11 |
| AFG3L2P1 | - | 8p11.1 |
| AFM | vitamin transport | 4q13.3 |
| AFMID | small molecule metabolic process; tryptophan catabolic process; tryptophan catabolic process to kynurenine; cellular nitrogen compound metabolic process | 17q25.3 |
| AFP | sexual reproduction; pancreas development; organ regeneration; progesterone metabolic process; SMAD protein signal transduction; response to organic substance; transport; liver development; ovulation from ovarian follicle | 4q13.3 |
| AFTPH | protein transport | 2p14 |
| AGA | asparagine catabolic process via L-aspartate; protein maturation; protein deglycosylation | 4q34.3 |
| AGAP1 | protein transport; regulation of ARF GTPase activity; small GTPase mediated signal transduction | 2q37 |
| AGAP1-IT1 | - | 2q37.2 |
| AGAP10 | regulation of ARF GTPase activity | 10q11.22 |
| AGAP11 | regulation of ARF GTPase activity | 10q23.2 |
| AGAP2 | small GTPase mediated signal transduction; negative regulation of protein catabolic process; axon guidance; protein transport; negative regulation of neuron apoptosis; regulation of ARF GTPase activity | 12q14.1 |
| AGAP2-AS1 | - | 12q14.1 |
| AGAP3 | signal transduction; small GTPase mediated signal transduction; regulation of ARF GTPase activity | 7q36.1 |
| AGAP4 | regulation of ARF GTPase activity | 10q11.22 |
| AGAP5 | regulation of ARF GTPase activity | 10q22.2 |
| AGAP6 | regulation of ARF GTPase activity | 10q11.23 |
| AGAP7P | regulation of ARF GTPase activity | 10q11.23 |
| AGAP9 | regulation of ARF GTPase activity | 10q11.22 |
| AGBL1 | protein side chain deglutamylation; C-terminal protein deglutamylation; proteolysis | 15q25.3 |
| AGBL2 | proteolysis | 11p11.2 |
| AGBL3 | proteolysis | 7q33 |
| AGBL4 | C-terminal protein deglutamylation; protein side chain deglutamylation; proteolysis | 1p33 |
| AGBL5 | protein deglutamylation; protein branching point deglutamylation; proteolysis | 2p23.3 |
| AGBL5-AS1 | - | - |
| AGER | positive regulation of inflammatory response; positive regulation of smooth muscle cell proliferation; innate immune response; positive regulation of apoptotic process; induction of positive chemotaxis; positive regulation of NF-kappaB transcription factor activity; response to hyperoxia; calcium ion homeostasis; lung development; positive regulation of fibroblast migration; response to wounding; inflammatory response; cell surface receptor signaling pathway; JAK-STAT cascade; brain development; neuron projection development | 6p21.3 |
| AGFG1 | regulation of ARF GTPase activity; cell differentiation; spermatogenesis; multicellular organismal development; transport; mRNA export from nucleus | 2q36.3 |
| AGFG2 | regulation of ARF GTPase activity | 7q22.1 |
| AGGF1 | positive regulation of endothelial cell proliferation; vasculogenesis; RNA processing; cell adhesion; multicellular organismal development; positive regulation of angiogenesis | 5q13.3 |
| AGGF1P1 | - | 4q35.2 |
| AGGF1P4 | - | 16p11.1 |
| AGK | ceramide biosynthetic process; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; metabolic process | 7q34 |
| AGKP1 | - | Yq11.21 |
| AGL | glucose metabolic process; response to nutrient; response to hormone stimulus; small molecule metabolic process; response to glucocorticoid stimulus; glycogen catabolic process; glycogen biosynthetic process; carbohydrate metabolic process | 1p21 |
| AGMAT | cellular nitrogen compound metabolic process; small molecule metabolic process; agmatine biosynthetic process; polyamine metabolic process; putrescine biosynthetic process; spermidine biosynthetic process | 1p36.21 |
| AGMO | membrane lipid metabolic process; fatty acid biosynthetic process; ether lipid metabolic process | 7p21.2 |
| AGO1 | - | 1p34.3 |
| AGO2 | - | 8q24 |
| AGO3 | - | 1p34 |
| AGO4 | - | 1p34 |
| AGPAT1 | cellular lipid metabolic process; positive regulation of cellular metabolic process; triglyceride biosynthetic process; phospholipid biosynthetic process; metabolic process; phosphatidic acid biosynthetic process; phospholipid metabolic process; energy reserve metabolic process; positive regulation of cytokine-mediated signaling pathway; positive regulation of cytokine production; small molecule metabolic process | 6p21.3 |
| AGPAT2 | triglyceride biosynthetic process; positive regulation of cytokine production; positive regulation of cytokine-mediated signaling pathway; phospholipid metabolic process; cellular lipid metabolic process; phosphatidic acid biosynthetic process; epidermis development; phospholipid biosynthetic process; small molecule metabolic process | 9q34.3 |
| AGPAT3 | metabolic process; phospholipid biosynthetic process | 21q22.3 |
| AGPAT4 | metabolic process; phospholipid biosynthetic process | 6q26 |
| AGPAT4-IT1 | - | 6q26 |
| AGPAT5 | acylglycerol metabolic process; metabolic process; phospholipid biosynthetic process | 8p23.1 |
| AGPAT5P1 | - | Yp11.2 |
| AGPS | ether lipid biosynthetic process; response to chemical stimulus; lipid biosynthetic process; cellular lipid metabolic process; small molecule metabolic process | 2q31.2 |
| AGR2 | mucus secretion | 7p21.3 |
| AGR3 | - | 7p21.1 |
| AGRN | positive regulation of neuron apoptosis; positive regulation of transcription from RNA polymerase II promoter; plasma membrane organization; signal transduction; G-protein coupled acetylcholine receptor signaling pathway; clustering of voltage-gated sodium channels; synapse organization; multicellular organismal development; neurotransmitter receptor metabolic process; axon guidance; receptor clustering; cell differentiation; regulation of receptor activity; regulation of synaptic growth at neuromuscular junction; neuromuscular junction development; synapse assembly | 1p36.33 |
| AGT | positive regulation of endothelial cell migration; regulation of blood volume by renin-angiotensin; nitric oxide mediated signal transduction; activation of NF-kappaB-inducing kinase activity; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; ovarian follicle rupture; regulation of cell growth; blood vessel development; positive regulation of cytokine production; kidney development; blood vessel remodeling; angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure; renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure; cell-cell signaling; renin-angiotensin regulation of aldosterone production; regulation of renal output by angiotensin; regulation of blood vessel size by renin-angiotensin; angiotensin-mediated drinking behavior; positive regulation of extracellular matrix constituent secretion; cellular sodium ion homeostasis; indu | 1q42.2 |
| AGTPBP1 | neuromuscular process; eye photoreceptor cell differentiation; proteolysis; mitochondrion organization; cerebellar Purkinje cell layer development; cerebellar Purkinje cell differentiation; olfactory bulb development; C-terminal protein deglutamylation; protein side chain deglutamylation; neurotransmitter metabolic process; retina development in camera-type eye | 9q21.33 |
| AGTR1 | positive regulation of cellular protein metabolic process; G-protein coupled receptor signaling pathway; positive regulation of phospholipase A2 activity; positive regulation of NAD(P)H oxidase activity; low-density lipoprotein particle remodeling; regulation of renal sodium excretion; regulation of cell proliferation; regulation of vasodilation; regulation of inflammatory response; positive regulation of inflammatory response; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; cell chemotaxis; positive regulation of reactive oxygen species metabolic process; regulation of vasoconstriction; regulation of cell growth; kidney development; renin-angiotensin regulation of aldosterone production; regulation of blood vessel size by renin-angiotensin; regulation of systemic arterial blood pressure by renin-angiotensin; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; elevation | 3q24 |
| AGTR2 | cell surface receptor signaling pathway; blood vessel remodeling; regulation of systemic arterial blood pressure by circulatory renin-angiotensin; vasodilation by angiotensin involved in regulation of systemic arterial blood pressure; brain renin-angiotensin system; inflammatory response; G-protein signaling, coupled to cGMP nucleotide second messenger; G-protein coupled receptor signaling pathway; positive regulation of branching involved in ureteric bud morphogenesis; positive regulation of metanephric glomerulus development; negative regulation of nerve growth factor receptor signaling pathway; positive regulation of nitric-oxide synthase activity; positive regulation of vasodilation; positive regulation of transcription, DNA-dependent; positive regulation of nitric oxide biosynthetic process; negative regulation of blood vessel endothelial cell migration; positive regulation of apoptotic process; regulation of metanephros size; positive regulation of phosphoprotein phosphatase activity; negative regulatio | Xq22-q23 |
| AGTRAP | regulation of blood pressure; G-protein coupled receptor signaling pathway; response to hypoxia | 1p36.22 |
| AGXT | response to cAMP; response to glucocorticoid stimulus; oxalic acid secretion; glyoxylate metabolic process; small molecule metabolic process; L-alanine catabolic process; cellular nitrogen compound metabolic process; glycine biosynthetic process, by transamination of glyoxylate; glyoxylate catabolic process; pyruvate biosynthetic process; protein targeting to peroxisome | 2q37.3 |
| AGXT2 | glyoxylate metabolic process; nucleobase-containing small molecule metabolic process; pyrimidine nucleoside catabolic process; small molecule metabolic process; pyrimidine base metabolic process; cellular nitrogen compound metabolic process | 5p13 |
| AHCTF1 | nuclear pore complex assembly; mRNA transport; protein transport; cytokinesis; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 1q44 |
| AHCTF1P1 | - | 2q24.2 |
| AHCY | xenobiotic metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; methylation; one-carbon metabolic process; sulfur amino acid metabolic process | 20q11.22 |
| AHCYL1 | regulation of anion transport; regulation of ion transmembrane transporter activity; regulation of mRNA 3'-end processing; positive regulation of sodium ion transport; one-carbon metabolic process; protein export from nucleus; mRNA polyadenylation | 1p13.2 |
| AHCYL2 | one-carbon metabolic process | 7q32.1 |
| AHCYP2 | - | 9q33.2 |
| AHCYP3 | - | 2q12.1 |
| AHCYP4 | - | 2q22.1 |
| AHCYP5 | - | 2q32.3 |
| AHCYP7 | - | 15q21.2 |
| AHDC1 | - | 1p36.13 |
| AHI1 | morphogenesis of a polarized epithelium; heart looping; transmembrane receptor protein tyrosine kinase signaling pathway; positive regulation of receptor internalization; specification of axis polarity; pronephric duct morphogenesis; pronephric nephron tubule morphogenesis; photoreceptor cell outer segment organization; cloaca development; cellular protein localization; protein localization to organelle; hindbrain development; cilium assembly; negative regulation of apoptotic process; positive regulation of transcription from RNA polymerase II promoter; regulation of behavior; cilium morphogenesis; Kupffer's vesicle development; positive regulation of polarized epithelial cell differentiation; cell projection organization; vesicle-mediated transport; retina layer formation; central nervous system development; left/right axis specification; otic vesicle development | 6q23.3 |
| AHNAK | nervous system development | 11q12.2 |
| AHNAK2 | - | 14q32.33 |
| AHR | intracellular receptor mediated signaling pathway; embryonic hemopoiesis; response to estradiol stimulus; regulation of B cell proliferation; post-embryonic hemopoiesis; positive regulation of growth rate; camera-type eye development; T cell homeostasis; positive regulation of cell size; positive regulation of transcription, DNA-dependent; prostate gland development; positive regulation of RNA polymerase II transcriptional preinitiation complex assembly; negative regulation of vasoconstriction; blood vessel morphogenesis; spleen development; smooth muscle tissue development; regulation of blood vessel size; negative regulation of necrotic cell death; venous blood vessel development; kidney morphogenesis; common bile duct development; cellular response to glucocorticoid stimulus; glomerulus morphogenesis; blood vessel remodeling; regulation of gene expression; negative regulation of transcription from RNA polymerase II promoter; cell morphogenesis; ovarian follicle development; blood vessel development; patter | 7p15 |
| AHRR | regulation of transcription, DNA-dependent | 5p15.3 |
| AHSA1 | positive regulation of ATPase activity; protein folding; response to stress | 14q24 |
| AHSA2 | response to stress | 2p15 |
| AHSG | negative regulation of phosphorylation; cellular response to insulin stimulus; organ regeneration; negative regulation of bone mineralization; regulation of bone mineralization; negative regulation of cell growth; cerebral cortex development; male gonad development; acute-phase response; pinocytosis; ossification; skeletal system development; positive regulation of phagocytosis; regulation of inflammatory response; negative regulation of insulin receptor signaling pathway; positive regulation of bone resorption | 3q27 |
| AHSP | protein stabilization; hemopoiesis; hemoglobin metabolic process; protein folding | 16p11.2 |
| AIDA | negative regulation of JUN kinase activity; regulation of protein homodimerization activity; multicellular organismal development; dorsal/ventral pattern formation; negative regulation of JNK cascade | 1q41 |
| AIF1 | cellular response to extracellular stimulus; response to electrical stimulus; actin filament bundle assembly; response to axon injury; positive regulation of smooth muscle cell proliferation; positive regulation of nitric oxide biosynthetic process; negative regulation of apoptotic process; positive regulation of T cell proliferation; response to cytokine stimulus; cellular response to hormone stimulus; cellular response to interferon-gamma; positive regulation of cell migration; actin filament polymerization; Rac protein signal transduction; positive regulation of muscle hyperplasia; negative regulation of gene expression; inflammatory response; phagocytosis, engulfment; positive regulation of protein phosphorylation; microglial cell activation; positive regulation of T cell migration; cellular response to chemical stimulus; regulation of G1/S transition of mitotic cell cycle; ruffle assembly; positive regulation of monocyte chemotaxis; positive regulation of smooth muscle cell chemotaxis | 6p21.3 |
| AIF1L | - | 9q34.13-q34.3 |
| AIFM1 | neuron apoptosis; cell redox homeostasis; activation of cysteine-type endopeptidase activity involved in apoptotic process; DNA fragmentation involved in apoptotic nuclear change; apoptosis in response to endoplasmic reticulum stress | Xq26.1 |
| AIFM1P1 | - | 10p12.31 |
| AIFM2 | induction of apoptosis; apoptotic mitochondrial changes; chromosome condensation | 10q22.1 |
| AIFM3 | activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; apoptotic process; transport; induction of apoptosis; electron transport chain; cell redox homeostasis; mitochondrial depolarization | 22q11.21 |
| AIG1 | - | 6q24.2 |
| AIM1 | - | 6q21 |
| AIM1L | - | 1p36.11 |
| AIM2 | cellular response to drug; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; cellular response to interferon-beta; immune response; innate immune response; interleukin-1 beta secretion | 1q22 |
| AIMP1 | inflammatory response; leukocyte migration; gene expression; response to wounding; cell-cell signaling; signal transduction; cell adhesion; chemotaxis; apoptotic process; tRNA aminoacylation for protein translation; carbohydrate metabolic process; negative regulation of endothelial cell proliferation; angiogenesis; glucose metabolic process | 4q24 |
| AIMP1P1 | - | 20p12.1 |
| AIMP2 | gene expression; cell differentiation; tRNA aminoacylation for protein translation; apoptotic process; multicellular organismal development | 7p22 |
| AIP | xenobiotic metabolic process; signal transduction; regulation of protein kinase A signaling cascade; protein maturation by protein folding; negative regulation of cyclic-nucleotide phosphodiesterase activity; protein targeting to mitochondrion | 11q13.3 |
| AIPL1 | protein folding; retina homeostasis; response to stimulus; negative regulation of apoptotic process; regulation of cGMP metabolic process; protein farnesylation; phototransduction, visible light; visual perception | 17p13.1 |
| AIRE | immune response; humoral immune response; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent | 21q22.3 |
| AJAP1 | cell adhesion | 1p36.32 |
| AJUBA | cell cycle; positive regulation of cellular biosynthetic process; cell adhesion; calcium-dependent cell-cell adhesion; lamellipodium assembly; regulation of cell migration; positive regulation of protein complex assembly; positive regulation of kinase activity; negative regulation of transcription from RNA polymerase II promoter; gene silencing by miRNA; wound healing, spreading of epidermal cells; regulation of GTPase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of MAP kinase activity; glycerophospholipid biosynthetic process; focal adhesion assembly; negative regulation of kinase activity; cellular protein localization | 14q11.2 |
| AK1 | nucleobase-containing compound metabolic process; nucleobase-containing small molecule interconversion; small molecule metabolic process; ATP metabolic process; nucleobase-containing small molecule metabolic process | 9q34.1 |
| AK2 | nucleobase-containing small molecule metabolic process; small molecule metabolic process; nucleobase-containing small molecule interconversion | 1p34 |
| AK2P1 | - | 1p32.1 |
| AK2P2 | - | 2p23.1 |
| AK3 | nucleobase-containing compound metabolic process; AMP phosphorylation; blood coagulation | 9p24.1 |
| AK3P2 | - | 8q24.3 |
| AK3P3 | - | - |
| AK3P5 | - | 10p11.22 |
| AK4P2 | - | 5q11.2 |
| AK4P3 | - | 12p11.21 |
| AK4P4 | - | 9p24.1 |
| AK5 | ATP metabolic process; ADP biosynthetic process; dADP biosynthetic process; signal transduction; nucleotide biosynthetic process; pyrimidine ribonucleotide biosynthetic process; nucleobase-containing small molecule metabolic process; nucleobase-containing small molecule interconversion; small molecule metabolic process | 1p31 |
| AK7 | cell projection organization; nucleobase-containing compound metabolic process | 14q32.2 |
| AK8 | nucleobase-containing compound metabolic process | 9q34.13 |
| AK9 | - | 6q21 |
| AKAP1 | cellular response to insulin stimulus; blood coagulation; cellular response to chemical stimulus; negative regulation of NFAT protein import into nucleus; negative regulation of protein dephosphorylation; negative regulation of cardiac muscle hypertrophy | 17q22 |
| AKAP10 | protein localization; signal transduction; blood coagulation; termination of G-protein coupled receptor signaling pathway | 17p11.1 |
| AKAP11 | intracellular protein kinase cascade; regulation of protein kinase A signaling cascade | 13q14.11 |
| AKAP12 | positive regulation of cAMP biosynthetic process; positive regulation of protein kinase A signaling cascade; G-protein coupled receptor signaling pathway; signal transduction; protein targeting | 6q24-q25 |
| AKAP13 | small GTPase mediated signal transduction; apoptotic process; induction of apoptosis by extracellular signals; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction | 15q24-q25 |
| AKAP14 | spermatogenesis | Xq24 |
| AKAP16BP | - | Xq24 |
| AKAP17A | mRNA processing; regulation of RNA splicing; B cell activation; signal transduction; regulation of transcription, DNA-dependent | Xp22.33 and Yp11.32 |
| AKAP2 | - | 9q31.3 |
| AKAP3 | cellular component movement; protein localization; acrosome reaction; transmembrane receptor protein serine/threonine kinase signaling pathway; single fertilization | 12p13.3 |
| AKAP4 | single fertilization; cellular component movement; signal transduction; transmembrane receptor protein serine/threonine kinase signaling pathway; sperm motility; protein localization; cell projection organization | Xp11.2 |
| AKAP5 | signal transduction; protein targeting; energy reserve metabolic process; synaptic transmission; positive regulation of protein kinase A signaling cascade; positive regulation of cAMP biosynthetic process; small molecule metabolic process; regulation of insulin secretion | 14q23.3 |
| AKAP6 | protein targeting; positive regulation of protein phosphatase type 2B activity; regulation of protein kinase A signaling cascade | 14q12 |
| AKAP7 | ion transport; protein localization; intracellular signal transduction; RNA metabolic process; regulation of protein kinase A signaling cascade | 6q23 |
| AKAP8 | mitosis; mitotic chromosome condensation; signal transduction | 19p13.1 |
| AKAP8L | - | 19p13.12 |
| AKAP9 | transport; G2/M transition of mitotic cell cycle; mitotic cell cycle; signal transduction; synaptic transmission | 7q21-q22 |
| AKIP1 | substrate adhesion-dependent cell spreading | 11p15.3 |
| AKIRIN1 | - | 1p34.3 |
| AKIRIN2 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; innate immune response; positive regulation of interleukin-6 production; positive regulation of cell proliferation; embryo development; response to lipopolysaccharide | 6q15 |
| AKNA | regulation of transcription, DNA-dependent | 9q32 |
| AKNAD1 | - | 1p13.3 |
| AKR1A1 | glucose metabolic process; cellular aldehyde metabolic process; L-ascorbic acid biosynthetic process; D-glucuronate catabolic process; aldehyde catabolic process | 1p33-p32 |
| AKR1B1 | small molecule metabolic process; steroid metabolic process; antibiotic metabolic process; response to stress; C21-steroid hormone biosynthetic process; carbohydrate metabolic process | 7q35 |
| AKR1B10 | cellular aldehyde metabolic process; digestion; steroid metabolic process; farnesol catabolic process; antibiotic metabolic process | 7q33 |
| AKR1B10P1 | - | 10q21.3 |
| AKR1B10P2 | - | 18q22.1 |
| AKR1B15 | - | 7q33 |
| AKR1B1P1 | - | 1q42.12 |
| AKR1B1P3 | - | 11p15.1 |
| AKR1B1P4 | - | 13q14.13 |
| AKR1B1P5 | - | 14q23.1 |
| AKR1B1P6 | - | 18p11.22 |
| AKR1B1P7 | - | 19q13.11 |
| AKR1B1P8 | - | Xq23 |
| AKR1C1 | progesterone metabolic process; xenobiotic metabolic process; digestion; bile acid metabolic process; bile acid and bile salt transport; antibiotic metabolic process; intestinal cholesterol absorption; retinal metabolic process; cholesterol homeostasis; response to organophosphorus; protein homooligomerization; oxidation-reduction process; cellular response to jasmonic acid stimulus | 10p15-p14 |
| AKR1C2 | oxidation-reduction process; digestion; steroid metabolic process; positive regulation of cell proliferation; antibiotic metabolic process; response to prostaglandin stimulus; progesterone metabolic process; positive regulation of protein kinase B signaling cascade; cellular response to jasmonic acid stimulus; G-protein coupled receptor signaling pathway; prostaglandin metabolic process | 10p15-p14 |
| AKR1C3 | cellular response to starvation; retinal metabolic process; oxidation-reduction process; male gonad development; positive regulation of cell proliferation; multicellular organismal macromolecule metabolic process; regulation of retinoic acid receptor signaling pathway; positive regulation of protein kinase B signaling cascade; protein import into nucleus, translocation; retinoic acid biosynthetic process; G-protein coupled receptor signaling pathway; response to nutrient; positive regulation of reactive oxygen species metabolic process; positive regulation of endothelial cell apoptosis; regulation of testosterone biosynthetic process; cellular response to jasmonic acid stimulus; cellular response to corticosteroid stimulus; cellular response to prostaglandin stimulus; cellular response to calcium ion; cellular response to cadmium ion; testosterone biosynthetic process; positive regulation of cell death; farnesol catabolic process; antibiotic metabolic process; keratinocyte differentiation; cellular response t | 10p15-p14 |
| AKR1C4 | antibiotic metabolic process; cellular response to jasmonic acid stimulus; small molecule metabolic process; bile acid and bile salt transport; androgen metabolic process; bile acid metabolic process; steroid metabolic process; bile acid biosynthetic process | 10p15.1 |
| AKR1C5P | - | - |
| AKR1C6P | - | 10p15.1 |
| AKR1C7P | - | 10p15.1 |
| AKR1C8P | - | 10p15.1 |
| AKR1D1 | bile acid biosynthetic process; cholesterol catabolic process; digestion; bile acid metabolic process; C21-steroid hormone metabolic process; androgen metabolic process; bile acid catabolic process; small molecule metabolic process; oxidation-reduction process | 7q32-q33 |
| AKR1E2 | - | 10p15.1 |
| AKR7A2 | carbohydrate metabolic process; cellular aldehyde metabolic process; antibiotic metabolic process | 1p36.13 |
| AKR7A2P1 | - | 1p12 |
| AKR7A3 | cellular aldehyde metabolic process | 1p36.13 |
| AKR7L | - | 1p36.13|1p35-p36.1 |
| AKT1 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; intracellular signal transduction; response to fluid shear stress; positive regulation of blood vessel endothelial cell migration; small molecule metabolic process; positive regulation of nitric-oxide synthase activity; positive regulation of peptidyl-serine phosphorylation; cellular response to insulin stimulus; positive regulation of cellular protein metabolic process; negative regulation of fatty acid beta-oxidation; positive regulation of cyclin-dependent protein kinase activity involved in G1/S; nitric oxide metabolic process; T cell costimulation; regulation of nitric-oxide synthase activity; positive regulation of anti-apoptosis; positive regulation of glycogen biosynthetic process; positive regulation of glucose import; protein autophosphorylation; positive regulation of lipid biosynthetic process; insulin-like growth factor receptor signaling pathway; nerve growth facto | 14q32.32 |
| AKT1S1 | negative regulation of protein kinase activity; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; negative regulation of TOR signaling cascade; neuroprotection; negative regulation of cell size; regulation of survival gene product expression; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling | 19q13.33 |
| AKT2 | positive regulation of sodium ion transport; positive regulation of peptidyl-serine phosphorylation; negative regulation of RNA splicing; cellular response to hormone stimulus; cellular response to insulin stimulus; positive regulation of fatty acid beta-oxidation; positive regulation of cell migration; regulation of cell migration; phosphorylation; response to muscle activity; positive regulation of glucose metabolic process; negative regulation of apoptotic process; negative regulation of plasma membrane long-chain fatty acid transport; positive regulation of gene expression; positive regulation of signal transduction; carbohydrate transport; insulin receptor signaling pathway; multicellular organismal development; signal transduction; response to osmotic stress; transport; protein modification process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; carbohydrate metabolic process; regulation of translation; positive regulation of cell motility; regulation of cell | 19q13.1-q13.2 |
| AKT3 | mitochondrial genome maintenance; protein phosphorylation; signal transduction | 1q44 |
| AKTIP | positive regulation of protein phosphorylation; apoptotic process; endosome to lysosome transport; endosome organization; lysosome organization; protein transport; early endosome to late endosome transport; positive regulation of protein binding | 16q12.2 |
| ALAD | porphyrin-containing compound metabolic process; heme biosynthetic process; small molecule metabolic process; protein homooligomerization | 9q33.1 |
| ALAS1 | tetrapyrrole biosynthetic process; cellular lipid metabolic process; small molecule metabolic process; heme biosynthetic process; biosynthetic process; porphyrin-containing compound metabolic process | 3p21.1 |
| ALAS2 | tetrapyrrole biosynthetic process; small molecule metabolic process; hemoglobin biosynthetic process; oxygen homeostasis; erythrocyte differentiation; biosynthetic process; cellular iron ion homeostasis; heme biosynthetic process; porphyrin-containing compound metabolic process; response to hypoxia | Xp11.21 |
| ALB | response to mercury ion; positive regulation of circadian sleep/wake cycle, non-REM sleep; small molecule metabolic process; sodium-independent organic anion transport; negative regulation of programmed cell death; negative regulation of apoptotic process; lipoprotein metabolic process; platelet activation; hemolysis by symbiont of host erythrocytes; bile acid and bile salt transport; response to organic substance; cellular response to starvation; bile acid metabolic process; blood coagulation; response to nutrient; response to stress; transport; lipid metabolic process; platelet degranulation; maintenance of mitochondrion location; transmembrane transport; response to platinum ion | 4q13.3 |
| ALCAM | cell adhesion; signal transduction; axon guidance; motor axon guidance | 3q13.1 |
| ALDH16A1 | - | 19q13.33 |
| ALDH18A1 | small molecule metabolic process; cellular nitrogen compound metabolic process; cellular amino acid biosynthetic process; proline biosynthetic process | 10q24.3 |
| ALDH1A1 | positive regulation of Ras GTPase activity; small molecule metabolic process; xenobiotic metabolic process; cellular aldehyde metabolic process; ethanol oxidation | 9q21.13 |
| ALDH1A2 | liver development; determination of bilateral symmetry; neuron differentiation; pituitary gland development; neural tube development; morphogenesis of embryonic epithelium; neural crest cell development; positive regulation of gene expression; proximal/distal pattern formation; anterior/posterior pattern specification; blood vessel development; negative regulation of cell proliferation; positive regulation of cell proliferation; midgut development; vitamin A metabolic process; heart morphogenesis; regulation of endothelial cell proliferation; kidney development; forebrain development; cellular response to retinoic acid; face development; embryonic digestive tract development; retinoic acid receptor signaling pathway; positive regulation of apoptotic process; 9-cis-retinoic acid biosynthetic process; retinal metabolic process; retinoic acid metabolic process; embryonic forelimb morphogenesis; response to cytokine stimulus; response to vitamin A; response to estradiol stimulus; embryonic camera-type eye develop | 15q21.3 |
| ALDH1A3 | olfactory pit development; response to drug; face development; embryonic eye morphogenesis; positive regulation of apoptotic process; retinal metabolic process; retinoic acid metabolic process; embryonic camera-type eye development; pituitary gland development; nucleus accumbens development; retinoic acid biosynthetic process; optic cup morphogenesis involved in camera-type eye development; kidney development | 15q26.3 |
| ALDH1B1 | carbohydrate metabolic process | 9p11.1 |
| ALDH1L1 | biosynthetic process; 10-formyltetrahydrofolate catabolic process | 3q21.3 |
| ALDH1L2 | biosynthetic process; 10-formyltetrahydrofolate catabolic process | 12q23.3 |
| ALDH2 | carbohydrate metabolic process; alcohol metabolic process; ethanol oxidation; xenobiotic metabolic process; synaptic transmission; neurotransmitter biosynthetic process; small molecule metabolic process | 12q24.2 |
| ALDH3A1 | response to nutrient; response to hypoxia; aging; positive regulation of cell proliferation; response to organic cyclic compound; response to drug; response to glucocorticoid stimulus; response to cAMP; oxidation-reduction process; cellular aldehyde metabolic process | 17p11.2 |
| ALDH3A2 | oxidation-reduction process; cellular aldehyde metabolic process | 17p11.2 |
| ALDH3B1 | alcohol metabolic process; lipid metabolic process; cellular response to oxidative stress; aldehyde catabolic process; oxidation-reduction process | 11q13 |
| ALDH3B2 | lipid metabolic process; alcohol metabolic process; cellular aldehyde metabolic process | 11q13 |
| ALDH4A1 | proline metabolic process; cellular nitrogen compound metabolic process; proline biosynthetic process; proline catabolic process; small molecule metabolic process | 1p36 |
| ALDH5A1 | glucose metabolic process; acetate metabolic process; succinate metabolic process; synaptic transmission; glutamate metabolic process; glutamine metabolic process; glycerophospholipid metabolic process; galactosylceramide metabolic process; glutathione metabolic process; neurotransmitter secretion; central nervous system development; gamma-aminobutyric acid catabolic process; respiratory electron transport chain; neurotransmitter catabolic process; short-chain fatty acid metabolic process; protein homotetramerization | 6p22 |
| ALDH6A1 | valine metabolic process; branched chain family amino acid catabolic process; thymine metabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 14q24.3 |
| ALDH7A1 | cellular aldehyde metabolic process; lysine catabolic process; sensory perception of sound; cellular nitrogen compound metabolic process; small molecule metabolic process | 5q31 |
| ALDH7A1P1 | - | 5q14 |
| ALDH7A1P3 | - | 7q36 |
| ALDH8A1 | retinoic acid metabolic process; 9-cis-retinoic acid biosynthetic process; retinal metabolic process | 6q23.2 |
| ALDH9A1 | kidney development; liver development; cellular aldehyde metabolic process; cellular nitrogen compound metabolic process; neurotransmitter biosynthetic process; hormone metabolic process; small molecule metabolic process; carnitine biosynthetic process; oxidation-reduction process | 1q23.1 |
| ALDOA | glucose metabolic process; small molecule metabolic process; gluconeogenesis; glycolysis; ATP biosynthetic process; striated muscle contraction; actin filament organization; blood coagulation; fructose metabolic process; carbohydrate metabolic process; platelet degranulation; platelet activation; fructose 1,6-bisphosphate metabolic process; regulation of cell shape; muscle cell homeostasis; protein homotetramerization | 16p11.2 |
| ALDOAP2 | - | 10q26.13 |
| ALDOB | fructose 1,6-bisphosphate metabolic process; gluconeogenesis; glycolysis; glucose metabolic process; fructose catabolic process; fructose metabolic process; carbohydrate metabolic process; NADH oxidation; positive regulation of ATPase activity; small molecule metabolic process; vacuolar proton-transporting V-type ATPase complex assembly | 9q21.3-q22.2 |
| ALDOC | gluconeogenesis; response to hypoxia; carbohydrate metabolic process; fructose metabolic process; protein heterotetramerization; protein homotetramerization; organ regeneration; fructose 1,6-bisphosphate metabolic process; glucose metabolic process; response to organic cyclic compound; glycolysis; apoptotic process; response to organic nitrogen; aging; small molecule metabolic process | 17cen-q12 |
| ALG1 | lipopolysaccharide biosynthetic process; cellular protein metabolic process; protein glycosylation; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification | 16p13.3 |
| ALG10 | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; dolichol-linked oligosaccharide biosynthetic process | 12p11.1 |
| ALG10B | post-translational protein modification; cellular protein metabolic process; protein N-linked glycosylation via asparagine; dolichol-linked oligosaccharide biosynthetic process | 12q12 |
| ALG11 | dolichol-linked oligosaccharide biosynthetic process; biosynthetic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 13q14.2 |
| ALG12 | dolichol-linked oligosaccharide biosynthetic process; GPI anchor biosynthetic process; cellular protein metabolic process; protein N-linked glycosylation; protein folding; post-translational protein modification; protein N-linked glycosylation via asparagine | 22q13.33 |
| ALG13 | carbohydrate metabolic process; cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine; lipid glycosylation; post-translational protein modification | Xq23 |
| ALG14 | dolichol-linked oligosaccharide biosynthetic process; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine | 1p21.3 |
| ALG1L | - | 3q21.2 |
| ALG1L15P | - | 3q25.31 |
| ALG1L2 | - | 3q22.1 |
| ALG1L3P | - | 4p16.1 |
| ALG1L5P | - | 7p22.1 |
| ALG1L6P | - | 3p12.3 |
| ALG1L9P | - | 11q13.4 |
| ALG2 | response to calcium ion; dolichol-linked oligosaccharide biosynthetic process; biosynthetic process; protein N-linked glycosylation via asparagine; cellular protein metabolic process; protein glycosylation in endoplasmic reticulum; post-translational protein modification | 9q22.33 |
| ALG3 | protein glycosylation; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine; cellular protein metabolic process; post-translational protein modification | 3q27.1 |
| ALG3P1 | - | 5p15.32 |
| ALG5 | protein N-linked glycosylation via asparagine; post-translational protein modification; determination of left/right symmetry; dolichol-linked oligosaccharide biosynthetic process; cellular protein metabolic process; protein glycosylation | 13q13.3 |
| ALG6 | post-translational protein modification; cellular protein metabolic process; protein N-linked glycosylation; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation via asparagine | 1p31.3 |
| ALG8 | cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation; protein N-linked glycosylation via asparagine; post-translational protein modification | 11q14.1 |
| ALG9 | protein N-linked glycosylation via asparagine; dolichol-linked oligosaccharide biosynthetic process; cellular protein metabolic process; GPI anchor biosynthetic process; post-translational protein modification | 11q23 |
| ALK | transmembrane receptor protein tyrosine kinase signaling pathway; positive regulation of NF-kappaB transcription factor activity; neuron development; protein autophosphorylation; regulation of apoptotic process; NIK/NF-kappaB cascade; phosphorylation; cell proliferation; signal transduction; activation of MAPK activity | 2p23 |
| ALKBH1 | neuron migration; placenta development; DNA repair; DNA dealkylation involved in DNA repair; regulation of gene expression; cell differentiation; neuron projection development; RNA repair; neuroprotection; in utero embryonic development; developmental growth; oxidative demethylation; DNA demethylation | 14q24.3 |
| ALKBH2 | oxidative DNA demethylation; DNA repair; DNA demethylation; oxidative demethylation; DNA dealkylation involved in DNA repair | 12q24.11 |
| ALKBH3 | oxidative single-stranded DNA demethylation; DNA repair; DNA dealkylation involved in DNA repair; DNA demethylation | 11p11.2 |
| ALKBH4 | - | 7q22.1 |
| ALKBH5 | - | 17p11.2|17p11.2 |
| ALKBH6 | - | 19q13.12 |
| ALKBH7 | - | 19p13.3 |
| ALKBH8 | response to DNA damage stimulus; tRNA methylation | 11q22.3 |
| ALLC | - | 2q35 |
| ALMS1 | sensory perception of sound; epithelial cell proliferation; G2/M transition of mitotic cell cycle; mitotic cell cycle; lipid metabolic process; triglyceride metabolic process; apoptotic process; developmental growth; retinal rod cell development; regulation of fat cell differentiation; cholesterol homeostasis; glucose homeostasis; cilium assembly; calcium-mediated signaling; spermatid development | 2p13 |
| ALMS1-IT1 | - | - |
| ALMS1P | - | 2p13.1 |
| ALOX12 | negative regulation of cell killing; positive regulation of cell growth; positive regulation of mitochondrial depolarization; fatty acid oxidation; positive regulation of cell killing; superoxide anion generation; positive regulation of apoptotic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of endothelial cell differentiation; positive regulation of cell adhesion; reactive oxygen species metabolic process; positive regulation of gene expression; positive regulation of endothelial cell migration; positive regulation of cell proliferation; cellular component movement; anti-apoptosis; leukotriene biosynthetic process | 17p13.1 |
| ALOX12-AS1 | - | - |
| ALOX12B | leukotriene biosynthetic process; epidermis development; lipid metabolic process | 17p13.1 |
| ALOX12P1 | - | 17q11 |
| ALOX12P2 | - | 17p13 |
| ALOX15 | lipoxygenase pathway; bone mineralization; leukotriene biosynthetic process; inflammatory response; lipid metabolic process | 17p13.3 |
| ALOX15B | negative regulation of growth; negative regulation of cell cycle; regulation of epithelial cell differentiation; prostate gland development; negative regulation of cell migration; leukotriene biosynthetic process; negative regulation of cell proliferation; induction of apoptosis; fatty acid metabolic process; lipid metabolic process | 17p13.1 |
| ALOX15P2 | - | 9q22.31 |
| ALOX5 | prostanoid metabolic process; acute inflammatory response; leukotriene production involved in inflammatory response; leukotriene metabolic process; response to nutrient; sensory perception of pain; arachidonic acid metabolic process; leukotriene biosynthetic process; lipoxygenase pathway; small molecule metabolic process; positive regulation of vasoconstriction; response to hyperoxia | 10q11.2 |
| ALOX5AP | cellular response to calcium ion; leukotriene production involved in inflammatory response; leukotriene biosynthetic process; protein homotrimerization | 13q12 |
| ALOXE3 | leukotriene biosynthetic process | 17p13.1 |
| ALPI | phosphorylation | 2q37.1 |
| ALPK1 | protein phosphorylation | 4q25 |
| ALPK2 | protein phosphorylation | 18q21.31 |
| ALPK3 | heart development; multicellular organismal development; protein phosphorylation | 15q25.2 |
| ALPL | response to lipopolysaccharide; response to vitamin D; response to antibiotic; response to glucocorticoid stimulus; cellular response to organic cyclic compound; cementum mineralization; skeletal system development; biomineral tissue development | 1p36.12 |
| ALPP | - | 2q37 |
| ALS2 | positive regulation of Rac GTPase activity; in utero embryonic development; endosome organization; axonogenesis; cell death; positive regulation of Rac protein signal transduction; regulation of Rho protein signal transduction; positive regulation of protein kinase activity; neuron projection morphogenesis; regulation of endosome size; positive regulation of protein serine/threonine kinase activity | 2q33.1 |
| ALS2CL | endosome organization; regulation of Rho protein signal transduction | 3p21.31 |
| ALS2CR11 | - | 2q33.1 |
| ALS2CR12 | regulation of GTPase activity | 2q33.1 |
| ALX1 | negative regulation of transcription from RNA polymerase II promoter; cartilage condensation; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; multicellular organismal development; brain development; positive regulation of transcription, DNA-dependent | 12q21.31 |
| ALX3 | multicellular organismal development | 1p13.3 |
| ALX4 | palate development; embryonic skeletal system morphogenesis; positive regulation of transcription from RNA polymerase II promoter; regulation of apoptotic process; embryonic digit morphogenesis; embryonic hindlimb morphogenesis; embryonic forelimb morphogenesis; limb morphogenesis; anterior/posterior pattern specification; post-embryonic development; skeletal system development; digestive tract development; hair follicle development; muscle organ development; pattern specification process | 11p11.2 |
| ALYREF | transport; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA export from nucleus; RNA splicing; gene expression; mRNA 3'-end processing; interspecies interaction between organisms; intronless viral mRNA export from host nucleus | 17q25.3 |
| AMACR | bile acid biosynthetic process; bile acid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; cellular lipid metabolic process; small molecule metabolic process | 5p13 |
| AMBN | cell adhesion; cell proliferation; bone mineralization; odontogenesis of dentin-containing tooth | 4q21 |
| AMBP | negative regulation of immune response; negative regulation of JNK cascade; interspecies interaction between organisms; heme catabolic process; protein-chromophore linkage; female pregnancy; cell adhesion | 9q32-q33 |
| AMBRA1 | multicellular organismal development; nervous system development; autophagy; cell differentiation | 11p11.2 |
| AMD1 | small molecule metabolic process; cellular nitrogen compound metabolic process; spermidine biosynthetic process; spermine biosynthetic process; polyamine metabolic process | 6q21 |
| AMDHD1 | small molecule metabolic process; cellular nitrogen compound metabolic process; histidine catabolic process; histidine catabolic process to glutamate and formamide | 12q23.1 |
| AMDHD2 | N-acetylglucosamine metabolic process; carbohydrate metabolic process | 16p13.3 |
| AMER1 | - | Xq11.2 |
| AMER2 | - | 13q12.13 |
| AMER3 | - | 2q21.1 |
| AMFR | protein polyubiquitination; protein oligomerization; endoplasmic reticulum unfolded protein response; ER-associated protein catabolic process; protein ubiquitination; learning or memory; aging; signal transduction; cellular component movement; ubiquitin-dependent protein catabolic process | 16q21 |
| AMH | cell-cell signaling; positive regulation of NF-kappaB transcription factor activity; response to drug; cell differentiation; response to organic cyclic compound; positive regulation of gene expression; aging; sex determination; gonadal mesoderm development; Mullerian duct regression; urogenital system development; preantral ovarian follicle growth; sex differentiation | 19p13.3 |
| AMHR2 | Mullerian duct regression; signal transduction; transforming growth factor beta receptor signaling pathway; sex differentiation | 12q13 |
| AMIGO1 | myelination; positive regulation of axonogenesis; cell differentiation; axonal fasciculation; nervous system development; multicellular organismal development; heterophilic cell-cell adhesion; homophilic cell adhesion; cell adhesion | 1p13.3 |
| AMIGO2 | heterophilic cell-cell adhesion; homophilic cell adhesion; negative regulation of programmed cell death; anti-apoptosis; cell adhesion | 12q13.11 |
| AMIGO3 | heterophilic cell-cell adhesion; cell adhesion | 3p21 |
| AMMECR1 | - | Xq22.3 |
| AMMECR1L | - | 2q21 |
| AMMECR1LP1 | - | - |
| AMN | lipoprotein metabolic process; multicellular organismal development; lipid metabolic process; excretion; protein localization; small molecule metabolic process | 14q32.3 |
| AMN1 | - | 12p11.21 |
| AMOT | hippo signaling cascade; negative regulation of vascular permeability; positive regulation of blood vessel endothelial cell migration; cell migration involved in gastrulation; positive regulation of cell size; positive regulation of embryonic development; positive regulation of stress fiber assembly; negative regulation of angiogenesis; in utero embryonic development; gastrulation with mouth forming second; vasculogenesis; chemotaxis; cell-cell junction assembly; actin cytoskeleton organization; regulation of cell migration; cellular protein localization | Xq23 |
| AMOTL1 | - | 11q14.3 |
| AMOTL2 | - | 3q21-q22 |
| AMPD1 | nucleotide metabolic process; nucleobase-containing small molecule metabolic process; small molecule metabolic process; purine-containing compound salvage; IMP biosynthetic process; purine base metabolic process | 1p13 |
| AMPD2 | purine base metabolic process; purine nucleotide metabolic process; IMP biosynthetic process; purine-containing compound salvage; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 1p13.3 |
| AMPD3 | purine-containing compound salvage; small molecule metabolic process; nucleobase-containing small molecule metabolic process; nucleotide metabolic process; IMP biosynthetic process; purine base metabolic process; AMP catabolic process | 11p15 |
| AMPH | endocytosis; synaptic transmission; learning; positive regulation of GTPase activity; positive regulation of endocytosis; synaptic vesicle endocytosis | 7p14-p13 |
| AMT | glycine catabolic process | 3p21.2-p21.1 |
| AMTN | odontogenesis of dentin-containing tooth; biomineral tissue development; cell adhesion | 4q13.3 |
| AMY1A | - | 1p21 |
| AMY1B | carbohydrate metabolic process | 1p21 |
| AMY2A | carbohydrate metabolic process; carbohydrate catabolic process; polysaccharide digestion; small molecule metabolic process | 1p21 |
| AMZ1 | proteolysis | 7p22.3 |
| AMZ2 | proteolysis | 17q24.2 |
| AMZ2P1 | - | 17q24.1 |
| ANAPC1 | cell cycle checkpoint; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mitotic cell cycle spindle assembly checkpoint; mitotic cell cycle; mitosis | 2q12.1 |
| ANAPC10 | ubiquitin-dependent protein catabolic process; mitotic cell cycle; mitotic anaphase; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell cycle checkpoint; mitosis; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; mitotic cell cycle spindle assembly checkpoint; protein ubiquitination; regulation of mitotic metaphase/anaphase transition; protein K11-linked ubiquitination; G2/M transition of mitotic cell cycle | 4q31 |
| ANAPC11 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell cycle checkpoint; mitotic cell cycle; mitosis; mitotic cell cycle spindle assembly checkpoint; protein ubiquitination; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell division; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination | 17q25.3 |
| ANAPC13 | cell division; cell cycle; mitosis; protein K11-linked ubiquitination | 3q22.2 |
| ANAPC15 | - | 11q13.4 |
| ANAPC16 | cell division; cell cycle; mitosis; protein ubiquitination | 10q22.1 |
| ANAPC1P1 | - | 2p11.2 |
| ANAPC2 | nervous system development; cyclin catabolic process; mitotic cell cycle spindle assembly checkpoint; mitosis; ubiquitin-dependent protein catabolic process; mitotic cell cycle; protein ubiquitination; cell differentiation; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of synaptic plasticity; positive regulation of axon extension; positive regulation of dendrite morphogenesis; cell division; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; positive regulation of synapse maturation; regulation of cyclin-dependent protein kinase activity; cell cycle checkpoint | 9q34.3 |
| ANAPC4 | cell cycle checkpoint; mitotic anaphase; protein K11-linked ubiquitination; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; G2/M transition of mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; regulation of mitotic metaphase/anaphase transition; protein ubiquitination; mitotic cell cycle spindle assembly checkpoint; mitosis; mitotic cell cycle; ubiquitin-dependent protein catabolic process | 4p15.2 |
| ANAPC5 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; cell division; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; mitotic cell cycle spindle assembly checkpoint; ubiquitin-dependent protein catabolic process; mitotic cell cycle; mitotic anaphase; G2/M transition of mitotic cell cycle; cell cycle checkpoint | 12q24.31 |
| ANAPC7 | cell division; mitotic cell cycle; mitosis; mitotic cell cycle spindle assembly checkpoint; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell cycle checkpoint | 12q24.11 |
| ANG | multicellular organismal development; homeostatic process; metabolic process; cell death; rRNA transcription; positive regulation of protein secretion; response to hormone stimulus; cell migration; negative regulation of translation; actin filament polymerization; placenta development; negative regulation of smooth muscle cell proliferation; cell differentiation; activation of protein kinase B activity; activation of phospholipase A2 activity; positive regulation of phosphorylation; cell communication; activation of phospholipase C activity; angiogenesis; ovarian follicle development; oocyte maturation; response to hypoxia; positive regulation of endothelial cell proliferation; diacylglycerol biosynthetic process | 14q11.1-q11.2 |
| ANGEL1 | - | 14q24.3 |
| ANGEL2 | - | 1q32.3 |
| ANGPT1 | regulation of satellite cell proliferation; positive regulation of endothelial cell migration; blood coagulation; multicellular organismal development; activation of transmembrane receptor protein tyrosine kinase activity; signal transduction; negative regulation of cell adhesion; anti-apoptosis; positive regulation of receptor internalization; sprouting angiogenesis; regulation of endothelial cell proliferation; negative regulation of endothelial cell apoptosis; negative regulation of vascular permeability; negative regulation of apoptotic process; protein localization at cell surface; positive regulation of protein ubiquitination; heparin biosynthetic process; cell differentiation; Tie receptor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; leukocyte migration; positive chemotaxis; positive regulation of protein kinase B signaling cascade; positive regulation of ERK1 and ERK2 cascade; positive regulation of blood vessel endothelial cell migration | 8q23.1 |
| ANGPT2 | response to activity; response to organic cyclic compound; negative regulation of angiogenesis; cell differentiation; organ regeneration; negative regulation of blood vessel endothelial cell migration; positive regulation of angiogenesis; Tie receptor signaling pathway; leukocyte migration; negative regulation of positive chemotaxis; maternal process involved in female pregnancy; negative regulation of cell-substrate adhesion; response to glucose stimulus; response to mechanical stimulus; response to radiation; blood coagulation; germ cell development; multicellular organismal development; signal transduction; response to hypoxia | 8p23.1 |
| ANGPT4 | anti-apoptosis; signal transduction; blood coagulation; positive regulation of endothelial cell migration; negative regulation of angiogenesis; negative regulation of apoptotic process; positive regulation of blood vessel endothelial cell migration; negative regulation of blood vessel endothelial cell migration; positive regulation of angiogenesis; positive regulation of peptidyl-tyrosine phosphorylation; leukocyte migration; cellular response to hypoxia; activation of transmembrane receptor protein tyrosine kinase activity; endothelial cell proliferation | 20p13 |
| ANGPTL1 | transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction | 1q25.2 |
| ANGPTL2 | signal transduction; multicellular organismal development | 9q34 |
| ANGPTL3 | triglyceride homeostasis; glycerol metabolic process; phospholipid homeostasis; acylglycerol homeostasis; lipid homeostasis; negative regulation of lipoprotein lipase activity; positive regulation of lipid catabolic process; artery morphogenesis; positive regulation of angiogenesis; negative regulation of catalytic activity; cholesterol homeostasis; positive regulation of cell migration; lipid storage; negative regulation of phospholipase activity; response to hormone stimulus; phospholipid catabolic process; cholesterol metabolic process; integrin-mediated signaling pathway; signal transduction; cell-matrix adhesion; phospholipid metabolic process; fatty acid metabolic process | 1p31.3 |
| ANGPTL4 | protein homooligomerization; signal transduction; multicellular organismal development; triglyceride homeostasis; cell differentiation; response to hypoxia; cellular lipid metabolic process; negative regulation of lipoprotein lipase activity; negative regulation of catalytic activity; negative regulation of apoptotic process; small molecule metabolic process; positive regulation of angiogenesis | 19p13.3 |
| ANGPTL5 | signal transduction | 11q22.1 |
| ANGPTL6 | angiogenesis; signal transduction; multicellular organismal development; cell differentiation | 19p13.2 |
| ANGPTL7 | signal transduction; response to oxidative stress | 1p36 |
| ANGPTL8 | - | 19p13.2 |
| ANHX | - | 12q24.33 |
| ANK1 | exocytosis; cytoskeleton organization; signal transduction; axon guidance; maintenance of epithelial cell apical/basal polarity | 8p11.1 |
| ANK2 | signal transduction; axon guidance | 4q25-q27 |
| ANK3 | signal transduction; establishment of protein localization | 10q21 |
| ANKAR | - | 2q32.2 |
| ANKDD1A | signal transduction | 15q22.31 |
| ANKDD1B | signal transduction | 5q13.3 |
| ANKEF1 | - | 20p12.2 |
| ANKFN1 | - | 17q22 |
| ANKFY1 | - | 17p13.3 |
| ANKH | skeletal system development; transport; locomotory behavior; regulation of bone mineralization; inorganic diphosphate transport | 5p15.1 |
| ANKHD1 | - | 5q31.3 |
| ANKHD1-EIF4EBP3 | - | 5q31.3 |
| ANKIB1 | - | 7q21.2 |
| ANKK1 | - | 11q23.2 |
| ANKLE1 | - | 19p13.11 |
| ANKLE2 | - | 12q24.33 |
| ANKMY1 | - | 2q37.3 |
| ANKMY2 | - | 7p21 |
| ANKRA2 | - | 5q12-q13 |
| ANKRD1 | cellular response to mechanical stimulus; response to muscle stretch; positive regulation of apoptotic process; positive regulation of DNA damage response, signal transduction by p53 class mediator; cellular lipid metabolic process; small molecule metabolic process; sarcomere organization; positive regulation of transcription from RNA polymerase II promoter; positive regulation of protein secretion; cardiac muscle tissue morphogenesis; cellular response to lipopolysaccharide; cellular response to interleukin-1; cellular response to tumor necrosis factor; cellular response to transforming growth factor beta stimulus; negative regulation of DNA biosynthetic process | 10q23.31 |
| ANKRD10 | - | 13q34 |
| ANKRD10-IT1 | - | - |
| ANKRD11 | head morphogenesis; skeletal system morphogenesis; multicellular organism growth; tissue homeostasis; bone development; in utero embryonic development | 16q24.3 |
| ANKRD12 | - | 18p11.22 |
| ANKRD13A | - | 12q24.11 |
| ANKRD13B | - | 17q11.2 |
| ANKRD13C | protein retention in ER lumen; regulation of receptor biosynthetic process; regulation of anoikis | 1p32.3-p31.3 |
| ANKRD13D | - | 11q13.2 |
| ANKRD16 | - | 10p15.1 |
| ANKRD17 | interspecies interaction between organisms | 4q13.3 |
| ANKRD18A | - | 9p13.1 |
| ANKRD18B | - | 9p13.3 |
| ANKRD18CP | - | 9q22.33 |
| ANKRD18DP | - | 3q29 |
| ANKRD18EP | - | 6p21.2 |
| ANKRD19P | - | 9q22.31 |
| ANKRD2 | muscle organ development; muscle contraction | 10q23 |
| ANKRD20A1 | - | 9q13 |
| ANKRD20A10P | - | - |
| ANKRD20A11P | - | 21q11.2 |
| ANKRD20A12P | - | - |
| ANKRD20A19P | - | 13q12.12 |
| ANKRD20A2 | - | 9p12 |
| ANKRD20A20P | - | 9q21.11 |
| ANKRD20A3 | - | 9p12 |
| ANKRD20A4 | - | 9q21.11 |
| ANKRD20A5P | - | 18p11.21 |
| ANKRD20A6P | - | Yq11.1 |
| ANKRD20A7P | - | 9p11.2 |
| ANKRD20A8P | - | 2q11.1 |
| ANKRD20A9P | - | 13q11 |
| ANKRD22 | - | 10q23.31 |
| ANKRD23 | fatty acid metabolic process | 2q11.2 |
| ANKRD24 | - | 19p13.3 |
| ANKRD26 | - | 10p12.1 |
| ANKRD26P1 | - | 16q11.2 |
| ANKRD26P3 | - | 13q12.11 |
| ANKRD26P4 | - | - |
| ANKRD27 | early endosome to late endosome transport | 19q13.11 |
| ANKRD28 | - | 3p25.1 |
| ANKRD29 | - | 18q11.2 |
| ANKRD30A | regulation of transcription, DNA-dependent | 10p11.21 |
| ANKRD30B | - | 18p11.21 |
| ANKRD30BP2 | - | 21q11.2 |
| ANKRD30BP3 | - | 10q11.21 |
| ANKRD31 | - | 5q13.3 |
| ANKRD33 | - | 12q13.13 |
| ANKRD33B | - | 5p15.2 |
| ANKRD34A | - | 1q21.1 |
| ANKRD34B | - | 5q14.1 |
| ANKRD34C | - | 15q25.1 |
| ANKRD34C-AS1 | - | 15q25.1 |
| ANKRD35 | - | 1q21.1 |
| ANKRD36 | - | 2q11.2 |
| ANKRD36B | - | 2q11.2 |
| ANKRD36BP1 | - | 1q24.2 |
| ANKRD36BP2 | - | 2p11.2 |
| ANKRD36C | - | 2q11.1 |
| ANKRD36P1 | - | Yq11.23 |
| ANKRD37 | - | 4q35.1 |
| ANKRD39 | - | 2q11.2 |
| ANKRD40 | - | 17q21.33 |
| ANKRD42 | - | 11q14.1 |
| ANKRD44 | - | 2q33.1 |
| ANKRD44-IT1 | - | - |
| ANKRD45 | - | 1q25.1 |
| ANKRD46 | - | 8q22.2 |
| ANKRD49 | positive regulation of transcription, DNA-dependent | 11q21 |
| ANKRD50 | - | 4q28.1 |
| ANKRD52 | - | 12q13.3 |
| ANKRD53 | - | 2p13.3 |
| ANKRD54 | nucleocytoplasmic transport; cell cycle; regulation of intracellular protein kinase cascade; positive regulation of erythrocyte differentiation; regulation of protein kinase activity | 22q13.1 |
| ANKRD55 | - | 5q11.2 |
| ANKRD6 | - | 6q14.2-q16.1 |
| ANKRD62 | - | 18p11.21 |
| ANKRD62P1-PARP4P3 | - | 22q11.1 |
| ANKRD65 | - | 1p36.33 |
| ANKRD7 | male gonad development | 7q31 |
| ANKRD9 | - | 14q32.31 |
| ANKS1A | ephrin receptor signaling pathway; substrate-dependent cell migration; neuron remodeling | 6p21.31 |
| ANKS1B | - | 12q23.1 |
| ANKS3 | - | 16p13.3 |
| ANKS4B | - | 16p12.2 |
| ANKS6 | - | 9q22.33 |
| ANKUB1 | - | 3q25.1 |
| ANKZF1 | - | 2q35 |
| ANLN | regulation of exit from mitosis; cytokinesis; septin ring assembly; cell cycle; mitosis | 7p15-p14 |
| ANO1 | chloride transport; multicellular organismal development; trachea development; ion transmembrane transport | 11q13.3 |
| ANO1-AS1 | - | - |
| ANO10 | ion transport; cell death | 3p22.1 |
| ANO2 | chloride transport; ion transport; ion transmembrane transport | 12p13.3 |
| ANO3 | ion transport | 11p14.2 |
| ANO4 | ion transport | 12q23.1 |
| ANO5 | ion transport | 11p14.3 |
| ANO6 | activation of blood coagulation via clotting cascade; ion transport; phosphatidylserine exposure on blood platelet | 12q12 |
| ANO7 | ion transport | 2q37.3 |
| ANO8 | ion transport | 19p13.11 |
| ANO9 | ion transport | 11p15.5 |
| ANOS1 | cell adhesion; cellular component movement; chemotaxis; axon guidance | Xp22.32 |
| ANP32A | intracellular signal transduction; mRNA metabolic process; RNA metabolic process; gene expression; nucleocytoplasmic transport; regulation of transcription, DNA-dependent | 15q23 |
| ANP32A-IT1 | - | 15q23 |
| ANP32AP1 | - | 15q14 |
| ANP32B | - | 9q22.32 |
| ANP32BP2 | - | 22q13.31 |
| ANP32D | - | 12q13.11 |
| ANP32E | negative regulation of catalytic activity | 1q21.2 |
| ANPEP | interspecies interaction between organisms; negative regulation of renal sodium excretion; cell differentiation; metabolic process; multicellular organismal development; cellular aromatic compound metabolic process; proteolysis; angiogenesis | 15q25-q26 |
| ANTXR1 | actin cytoskeleton reorganization; substrate adhesion-dependent cell spreading | 2p13.1 |
| ANTXR2 | - | 4q21.21 |
| ANTXRL | - | 10q11.22 |
| ANTXRLP1 | - | 10q11.22 |
| ANXA1 | peptide cross-linking; cell cycle; insulin secretion; keratinocyte differentiation; response to interleukin-1; endocrine pancreas development; positive regulation of vesicle fusion; positive regulation of prostaglandin biosynthetic process; response to estradiol stimulus; gliogenesis; regulation of cell proliferation; response to drug; positive regulation of apoptotic process; negative regulation of apoptotic process; response to peptide hormone stimulus; alpha-beta T cell differentiation; arachidonic acid secretion; negative regulation of protein secretion; response to glucocorticoid stimulus; estrous cycle phase; cellular response to hydrogen peroxide; hepatocyte differentiation; response to X-ray; response to organic cyclic compound; negative regulation of acute inflammatory response; lipid metabolic process; anti-apoptosis; cellular component movement; inflammatory response; signal transduction; cell surface receptor signaling pathway | 9q21.13 |
| ANXA10 | - | 4q33 |
| ANXA11 | response to calcium ion; cell division; cytokinesis, completion of separation; phagocytosis; cell cycle | 10q23 |
| ANXA13 | cell differentiation | 8q24.13 |
| ANXA2 | angiogenesis; cellular response to acid; body fluid secretion; collagen fibril organization; positive regulation of vesicle fusion; fibrinolysis; positive regulation of binding; skeletal system development | 15q22.2 |
| ANXA2P1 | - | 4q31.3 |
| ANXA2P2 | angiogenesis; body fluid secretion; collagen fibril organization; fibrinolysis; positive regulation of binding; cellular response to acid | 9p13 |
| ANXA2P3 | - | 10q21.3 |
| ANXA2R | - | 5p12 |
| ANXA3 | positive regulation of endothelial cell migration; response to growth factor stimulus; response to glucocorticoid stimulus; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of DNA metabolic process; positive regulation of angiogenesis; neutrophil degranulation; defense response to bacterium; organ regeneration; hippocampus development; phagocytosis | 4q21.21 |
| ANXA4 | anti-apoptosis; signal transduction; negative regulation of coagulation | 2p13 |
| ANXA5 | blood coagulation; response to organic substance; positive regulation of apoptotic process; negative regulation of coagulation; protein homooligomerization; anti-apoptosis; signal transduction | 4q27 |
| ANXA6 | regulation of muscle contraction; calcium ion transport | 5q33.1 |
| ANXA7 | hemostasis; cell proliferation; regulation of cell shape; response to salt stress; cellular water homeostasis; social behavior; cellular calcium ion homeostasis | 10q22.2 |
| ANXA8 | blood coagulation | 10q11.22 |
| ANXA8L1 | - | 10q11.22 |
| ANXA9 | cell-cell adhesion | 1q21 |
| AOAH | lipid metabolic process; inflammatory response; lipopolysaccharide metabolic process; negative regulation of inflammatory response | 7p14-p12 |
| AOC1 | - | 7q36.1 |
| AOC2 | catecholamine metabolic process; visual perception; amine metabolic process | 17q21 |
| AOC3 | inflammatory response; cell adhesion; amine metabolic process; response to antibiotic | 17q21 |
| AOC4P | - | 17q21.31 |
| AOX1 | inflammatory response; reactive oxygen species metabolic process | 2q33 |
| AOX2P | - | 2q33.1 |
| AP1AR | protein transport | 4q25 |
| AP1B1 | intracellular protein transport; post-Golgi vesicle-mediated transport; endocytosis; viral reproduction; cellular membrane organization; regulation of defense response to virus by virus | 22q12.2 |
| AP1B1P1 | - | 22q12.3 |
| AP1B1P2 | - | 22q12.3 |
| AP1G1 | regulation of defense response to virus by virus; intracellular protein transport; post-Golgi vesicle-mediated transport; endocytosis; viral reproduction; cellular membrane organization | 16q23 |
| AP1G2 | interspecies interaction between organisms; vesicle-mediated transport; intracellular protein transport | 14q11.2 |
| AP1M1 | cellular membrane organization; interspecies interaction between organisms; endosome to melanosome transport; melanosome organization; vesicle-mediated transport; regulation of defense response to virus by virus; viral reproduction; post-Golgi vesicle-mediated transport; intracellular protein transport | 19p13.12 |
| AP1M2 | regulation of defense response to virus by virus; cellular membrane organization; viral reproduction; vesicle targeting; post-Golgi vesicle-mediated transport; protein targeting | 19p13.2 |
| AP1S1 | regulation of defense response to virus by virus; cellular membrane organization; viral reproduction; response to virus; receptor-mediated endocytosis; post-Golgi vesicle-mediated transport; intracellular protein transport | 7q22.1 |
| AP1S2 | post-Golgi vesicle-mediated transport; endocytosis; viral reproduction; cellular membrane organization; regulation of defense response to virus by virus; intracellular protein transport | Xp22.2 |
| AP1S3 | endocytosis; regulation of defense response to virus by virus; viral reproduction; cellular membrane organization; post-Golgi vesicle-mediated transport; intracellular protein transport | 2q36.1 |
| AP2A1 | intracellular protein transport; Golgi to endosome transport; endocytosis; epidermal growth factor receptor signaling pathway; synaptic transmission; axon guidance; viral reproduction; negative regulation of epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; regulation of defense response to virus by virus | 19q13.33 |
| AP2A2 | endocytosis; intracellular protein transport; epidermal growth factor receptor signaling pathway; synaptic transmission; axon guidance; viral reproduction; negative regulation of epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; regulation of defense response to virus by virus | 11p15.5 |
| AP2B1 | intracellular protein transport; regulation of defense response to virus by virus; nerve growth factor receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; vesicle-mediated transport; viral reproduction; axon guidance; synaptic transmission; epidermal growth factor receptor signaling pathway | 17q11.2-q12 |
| AP2M1 | synaptic transmission; regulation of defense response to virus by virus; nerve growth factor receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; vesicle-mediated transport; cellular membrane organization; viral reproduction; axon guidance; epidermal growth factor receptor signaling pathway; intracellular protein transport; transport | 3q28 |
| AP2S1 | protein transport; transport; intracellular protein transport; epidermal growth factor receptor signaling pathway; axon guidance; synaptic transmission; viral reproduction; vesicle-mediated transport; regulation of endocytosis; negative regulation of epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; clathrin coat assembly; regulation of defense response to virus by virus | 19q13.2-q13.3 |
| AP3B1 | endocytosis; antigen processing and presentation; melanosome organization; antigen processing and presentation, exogenous lipid antigen via MHC class Ib; positive regulation of NK T cell differentiation; intracellular protein transport; protein targeting to lysosome; blood coagulation | 5q14.1 |
| AP3B2 | intracellular protein transport; post-Golgi vesicle-mediated transport; endocytosis | 15q |
| AP3D1 | antigen processing and presentation; eye pigment biosynthetic process; intracellular protein transport; vesicle-mediated transport; protein localization to organelle; antigen processing and presentation, exogenous lipid antigen via MHC class Ib; synaptic vesicle membrane organization; positive regulation of NK T cell differentiation; regulation of sequestering of zinc ion | 19p13.3 |
| AP3M1 | protein targeting to lysosome; intracellular protein transport; vesicle-mediated transport | 10q22.2 |
| AP3M2 | vesicle-mediated transport; intracellular protein transport | 8p11.2 |
| AP3S1 | insulin receptor signaling pathway; vesicle-mediated transport; intracellular protein transport; transport | 5q22 |
| AP3S2 | intracellular protein transport; vesicle-mediated transport | 15q26.1 |
| AP4B1 | vesicle-mediated transport; intracellular protein transport; transport | 1p13.2 |
| AP4B1-AS1 | - | 1p13.2 |
| AP4E1 | vesicle-mediated transport; intracellular protein transport | 15q21.2 |
| AP4M1 | vesicle-mediated transport; intracellular protein transport | 7q22.1 |
| AP4S1 | transport | 14q12 |
| AP5B1 | protein transport | 11q13.1 |
| AP5M1 | vesicle-mediated transport; intracellular protein transport | 14q22.3 |
| AP5S1 | double-strand break repair via homologous recombination; DNA repair | 20p13 |
| AP5Z1 | cell death; DNA repair; double-strand break repair via homologous recombination | 7p22.2 |
| APAF1 | regulation of apoptotic process; intrinsic apoptotic signaling pathway; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; induction of apoptosis by intracellular signals; nervous system development; defense response; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process | 12q23 |
| APBA1 | locomotory behavior; protein complex assembly; intracellular protein transport; cell adhesion; synaptic transmission; in utero embryonic development; nervous system development; axon cargo transport; regulation of gene expression; glutamate secretion; gamma-aminobutyric acid secretion; multicellular organism growth | 9q13-q21.1 |
| APBA2 | nervous system development; protein transport | 15q11-q12 |
| APBA3 | intracellular signal transduction; protein transport; regulation of gene expression; synaptic transmission; in utero embryonic development | 19p13.3 |
| APBB1 | negative regulation of S phase of mitotic cell cycle; regulation of transcription, DNA-dependent; response to DNA damage stimulus; cell cycle arrest; signal transduction; axonogenesis; chromatin modification; negative regulation of cell growth; positive regulation of apoptotic process; histone H4 acetylation; positive regulation of transcription, DNA-dependent; negative regulation of thymidylate synthase biosynthetic process | 11p15 |
| APBB1IP | platelet activation; blood coagulation; signal transduction | 10p12.1 |
| APBB2 | cell cycle arrest; negative regulation of cell growth; regulation of transcription, DNA-dependent; intracellular signal transduction; negative regulation of S phase of mitotic cell cycle | 4p13 |
| APC | negative regulation of epithelial cell proliferation involved in prostate gland development; regulation of microtubule-based process; tight junction assembly; regulation of osteoblast differentiation; skin development; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of MAPK cascade; negative regulation of apoptotic process; positive regulation of apoptotic process; response to drug; negative regulation of odontogenesis; somatic stem cell maintenance; T cell differentiation in thymus; canonical Wnt receptor signaling pathway; retina development in camera-type eye; regulation of attachment of spindle microtubules to kinetochore; positive regulation of cell division; regulation of cell cycle; chromosome organization; regulation of nitrogen compound metabolic process; thymus development; muscle cell homeostasis; positive regulation of cell adhesion; negative regulation of cyclin-dependent protein kinase activity; positive regulation of protein catabolic process; regulation of | 5q21-q22 |
| APC2 | negative regulation of canonical Wnt receptor signaling pathway; negative regulation of catenin import into nucleus; Wnt receptor signaling pathway | 19p13.3 |
| APCDD1 | hair follicle development; negative regulation of Wnt receptor signaling pathway | 18p11.22 |
| APCDD1L | - | 20q13.32 |
| APCDD1L-AS1 | - | 20q13.32 |
| APEH | proteolysis | 3p21.31 |
| APELA | - | 4q32 |
| APEX1 | DNA repair; base-excision repair; DNA recombination; regulation of transcription, DNA-dependent; regulation of mRNA stability; positive regulation of DNA repair; positive regulation of anti-apoptosis; oxidation-reduction process; DNA demethylation | 14q11.2 |
| APEX2 | cell cycle; DNA repair; DNA recombination | Xp11.21 |
| APH1A | positive regulation of catalytic activity; nerve growth factor receptor signaling pathway; membrane protein intracellular domain proteolysis; protein processing; metanephros development; membrane protein ectodomain proteolysis; apoptotic process; Notch signaling pathway; induction of apoptosis by extracellular signals; metabolic process; Notch receptor processing; amyloid precursor protein catabolic process | 1p36.13-q31.3 |
| APH1B | nerve growth factor receptor signaling pathway; membrane protein intracellular domain proteolysis; positive regulation of catalytic activity; induction of apoptosis by extracellular signals; Notch receptor processing; Notch signaling pathway; apoptotic process; protein processing | 15q22.2 |
| API5 | apoptotic process; anti-apoptosis | 11p11.2 |
| API5P1 | - | Xq24 |
| API5P2 | - | 2q31.2 |
| APIP | polyamine metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; apoptotic process; cellular amino acid biosynthetic process; L-methionine salvage from methylthioadenosine; methionine biosynthetic process; sulfur amino acid metabolic process | 11p13 |
| APLF | single strand break repair; double-strand break repair; response to DNA damage stimulus | 2p13.3 |
| APLN | lactation; regulation of the force of heart contraction; immune response; signal transduction; positive regulation of corticotropin-releasing hormone secretion; positive regulation of corticotropin secretion; regulation of body fluid levels; positive regulation of vasodilation; negative regulation of blood pressure; regulation of respiratory gaseous exchange; drinking behavior; positive regulation of phosphorylation; positive regulation of heat generation; positive regulation of cell proliferation; negative regulation of vasoconstriction | Xq25 |
| APLNR | G-protein coupled receptor signaling pathway; regulation of body fluid levels | 11q12 |
| APLP1 | apoptotic process; negative regulation of cAMP biosynthetic process; forebrain development; cellular response to norepinephrine stimulus; extracellular matrix organization; organ morphogenesis; cell death; mRNA polyadenylation; regulation of translation; endocytosis; cell adhesion; inhibition of adenylate cyclase activity by G-protein signaling pathway; nervous system development | 19q13.1 |
| APLP2 | cellular copper ion homeostasis; regulation of epidermal growth factor-activated receptor activity; G-protein coupled receptor signaling pathway; mating behavior; suckling behavior; locomotory behavior; embryo development; extracellular matrix organization; forebrain development; midbrain development; neuromuscular process controlling balance | 11q24 |
| APMAP | - | 20p11.2 |
| APOA1 | cholesterol homeostasis; blood vessel endothelial cell migration; reverse cholesterol transport; lipoprotein biosynthetic process; lipoprotein metabolic process; high-density lipoprotein particle remodeling; high-density lipoprotein particle clearance; cellular lipid metabolic process; small molecule metabolic process; negative regulation of interleukin-1 beta secretion; protein stabilization; positive regulation of hydrolase activity; negative regulation of hydrolase activity; positive regulation of transferase activity; transmembrane transport; cholesterol import; high-density lipoprotein particle assembly; regulation of protein phosphorylation; endothelial cell proliferation; platelet degranulation; negative regulation of cytokine secretion involved in immune response; lipid metabolic process; phospholipid metabolic process; phosphatidylcholine biosynthetic process; cholesterol biosynthetic process; G-protein coupled receptor signaling pathway; blood coagulation; steroid metabolic process; cholesterol meta | 11q23-q24 |
| APOA1BP | - | 1q21 |
| APOA2 | response to estrogen stimulus; reverse cholesterol transport; cellular lipid metabolic process; cholesterol homeostasis; small molecule metabolic process; interspecies interaction between organisms; positive regulation of interleukin-8 biosynthetic process; diacylglycerol catabolic process; negative regulation of lipid catabolic process; positive regulation of lipid catabolic process; response to glucocorticoid stimulus; negative regulation of lipase activity; negative regulation of cholesterol import; negative regulation of cholesterol transporter activity; regulation of intestinal cholesterol absorption; acute inflammatory response; phospholipid catabolic process; response to drug; transport; phosphatidylcholine biosynthetic process; triglyceride metabolic process; lipid metabolic process; protein folding; cholesterol metabolic process; negative regulation of cytokine secretion involved in immune response; response to glucose stimulus; positive regulation of cholesterol esterification; organ regeneration; l | 1q23.3 |
| APOA4 | multicellular organismal lipid catabolic process; reverse cholesterol transport; hydrogen peroxide catabolic process; cholesterol homeostasis; phospholipid efflux; lipoprotein metabolic process; small molecule metabolic process; positive regulation of fatty acid biosynthetic process; phosphatidylcholine metabolic process; positive regulation of lipoprotein lipase activity; lipid homeostasis; protein-lipid complex assembly; negative regulation of plasma lipoprotein particle oxidation; innate immune response in mucosa; lipid metabolic process; transport; lipid transport; response to lipid hydroperoxide; leukocyte cell-cell adhesion; cholesterol metabolic process; positive regulation of cholesterol esterification; positive regulation of triglyceride catabolic process; removal of superoxide radicals; regulation of intestinal cholesterol absorption; regulation of cholesterol transport; cholesterol efflux; chylomicron remodeling; very-low-density lipoprotein particle remodeling; high-density lipoprotein particle re | 11q23 |
| APOA5 | cellular lipid metabolic process; triglyceride homeostasis; cholesterol homeostasis; tissue regeneration; acylglycerol homeostasis; small molecule metabolic process; positive regulation of fatty acid biosynthetic process; positive regulation of lipoprotein lipase activity; positive regulation of lipid catabolic process; positive regulation of receptor-mediated endocytosis; lipid transport; lipoprotein metabolic process; triglyceride-rich lipoprotein particle remodeling; triglyceride metabolic process; transport; organ regeneration; triglyceride catabolic process; positive regulation of very-low-density lipoprotein particle remodeling; positive regulation of triglyceride catabolic process; response to hormone stimulus | 11q23 |
| APOB | very-low-density lipoprotein particle assembly; sperm motility; response to lipopolysaccharide; low-density lipoprotein particle remodeling; positive regulation of cholesterol storage; cholesterol transport; triglyceride catabolic process; lipid catabolic process; regulation of cholesterol biosynthetic process; low-density lipoprotein particle clearance; lipoprotein metabolic process; lipoprotein biosynthetic process; lipoprotein catabolic process; cholesterol homeostasis; lipoprotein transport; small molecule metabolic process; transport; positive regulation of lipid storage; positive regulation of macrophage derived foam cell differentiation; response to selenium ion; post-embryonic development; response to carbohydrate stimulus; response to virus; fertilization; cholesterol metabolic process; steroid metabolic process; blood coagulation; nervous system development; spermatogenesis; receptor-mediated endocytosis; in utero embryonic development; lipid metabolic process; triglyceride mobilization; leukocyte m | 2p24-p23 |
| APOBEC1 | lipoprotein transport; negative regulation of methylation-dependent chromatin silencing; DNA demethylation; defense response to virus; response to calcium ion; mRNA stabilization; response to ethanol; response to drug; lipoprotein biosynthetic process; regulation of cell proliferation; mRNA modification; RNA processing; mRNA processing; lipid metabolic process; response to osmotic stress; cytidine deamination; response to zinc ion; response to gamma radiation; gene expression; cytidine to uridine editing; cellular response to insulin stimulus | 12p13.1 |
| APOBEC2 | mRNA modification; mRNA processing; cytidine deamination; DNA demethylation | 6p21 |
| APOBEC3A | DNA cytosine deamination; DNA demethylation; cellular response to xenobiotic stimulus; defense response to virus; cytidine deamination; negative regulation of transposition; clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine; negative regulation of viral genome replication; innate immune response | 22q13.1-q13.2 |
| APOBEC3B | negative regulation of transposition | 22q13.1-q13.2 |
| APOBEC3C | response to virus; negative regulation of transposition; interspecies interaction between organisms; DNA demethylation | 22q13.1 |
| APOBEC3D | negative regulation of transposition | 22q13.1 |
| APOBEC3F | cytidine deamination; negative regulation of transposition; response to virus; positive regulation of defense response to virus by host; base conversion or substitution editing; negative regulation of viral genome replication; innate immune response; negative regulation of viral reproduction; negative regulation of retroviral genome replication; DNA demethylation | 22q13.1 |
| APOBEC3G | positive regulation of defense response to virus by host; innate immune response; negative regulation of retroviral genome replication; negative regulation of viral reproduction; DNA cytosine deamination; negative regulation of viral genome replication; interspecies interaction between organisms; base conversion or substitution editing; response to virus; cytidine deamination; negative regulation of transposition; viral reproduction | 22q13.1-q13.2 |
| APOBEC3H | negative regulation of transposition; negative regulation of retroviral genome replication; negative regulation of viral reproduction; DNA cytosine deamination; cytidine deamination; response to virus | 22q13.1 |
| APOBEC4 | mRNA processing | 1q25.3 |
| APOBR | cholesterol metabolic process; steroid metabolic process; lipid transport; transport; triglyceride metabolic process | 16p11 |
| APOC1 | negative regulation of lipoprotein lipase activity; negative regulation of lipid catabolic process; negative regulation of receptor-mediated endocytosis; negative regulation of lipid metabolic process; negative regulation of fatty acid biosynthetic process; lipoprotein metabolic process; very-low-density lipoprotein particle clearance; chylomicron remnant clearance; very-low-density lipoprotein particle assembly; high-density lipoprotein particle remodeling; plasma lipoprotein particle remodeling; cholesterol efflux; phospholipid efflux; lipid metabolic process; triglyceride metabolic process; transport; cholesterol metabolic process; positive regulation of cholesterol esterification; negative regulation of very-low-density lipoprotein particle clearance; regulation of lipid transport; regulation of cholesterol transport; negative regulation of cholesterol transport; negative regulation of phosphatidylcholine catabolic process | 19q13.2 |
| APOC1P1 | - | 19q13.2 |
| APOC2 | chylomicron remodeling; very-low-density lipoprotein particle remodeling; chylomicron remnant clearance; high-density lipoprotein particle clearance; lipoprotein metabolic process; response to drug; cholesterol homeostasis; lipoprotein transport; reverse cholesterol transport; small molecule metabolic process; positive regulation of fatty acid biosynthetic process; negative regulation of lipid metabolic process; negative regulation of receptor-mediated endocytosis; positive regulation of lipoprotein lipase activity; positive regulation of phospholipid catabolic process; triglyceride homeostasis; phospholipid efflux; triglyceride-rich lipoprotein particle remodeling; lipid metabolic process; transport; lipid transport; positive regulation of phospholipase activity; positive regulation of triglyceride catabolic process; positive regulation of very-low-density lipoprotein particle remodeling; negative regulation of very-low-density lipoprotein particle clearance; lipid catabolic process; negative regulation of c | 19q13.2 |
| APOC3 | Cdc42 protein signal transduction; cholesterol efflux; phospholipid efflux; high-density lipoprotein particle remodeling; very-low-density lipoprotein particle assembly; chylomicron remnant clearance; lipoprotein metabolic process; cholesterol homeostasis; reverse cholesterol transport; transport; small molecule metabolic process; negative regulation of fatty acid biosynthetic process; negative regulation of lipid metabolic process; triglyceride homeostasis; negative regulation of cholesterol import; negative regulation of lipoprotein lipase activity; negative regulation of lipid catabolic process; negative regulation of receptor-mediated endocytosis; negative regulation of low-density lipoprotein particle clearance; triglyceride catabolic process; lipid metabolic process; triglyceride metabolic process; triglyceride mobilization; lipid transport; G-protein coupled receptor signaling pathway; cholesterol metabolic process; negative regulation of triglyceride catabolic process; negative regulation of very-low- | 11q23.3 |
| APOD | negative regulation of lipoprotein lipid oxidation; tissue regeneration; negative regulation of protein import into nucleus; response to drug; peripheral nervous system axon regeneration; negative regulation of smooth muscle cell proliferation; response to axon injury; negative regulation of focal adhesion assembly; negative regulation of monocyte chemotactic protein-1 production; negative regulation of cytokine production involved in inflammatory response; negative regulation of smooth muscle cell-matrix adhesion; negative regulation of T cell migration; aging; negative regulation of platelet-derived growth factor receptor signaling pathway; response to reactive oxygen species; angiogenesis; glucose metabolic process; lipid metabolic process; lipid transport; brain development | 3q26.2-qter |
| APOE | aging; low-density lipoprotein particle remodeling; cholesterol metabolic process; cell death; regulation of gene expression; negative regulation of platelet activation; positive regulation of cholesterol esterification; positive regulation of cholesterol efflux; peripheral nervous system axon regeneration; cGMP-mediated signaling; negative regulation of blood coagulation; regulation of axon extension; positive regulation of cGMP biosynthetic process; Cdc42 protein signal transduction; positive regulation of low-density lipoprotein particle receptor catabolic process; cholesterol efflux; phospholipid efflux; very-low-density lipoprotein particle remodeling; triglyceride metabolic process; very-low-density lipoprotein particle clearance; high-density lipoprotein particle clearance; chylomicron remnant clearance; high-density lipoprotein particle assembly; high-density lipoprotein particle remodeling; response to reactive oxygen species; negative regulation of endothelial cell proliferation; response to dietary | 19q13.2 |
| APOH | plasminogen activation; negative regulation of fibrinolysis; regulation of fibrinolysis; positive regulation of lipoprotein lipase activity; negative regulation of smooth muscle cell apoptosis; negative regulation of myeloid cell apoptosis; triglyceride transport; organ regeneration; negative regulation of blood coagulation; positive regulation of blood coagulation; negative regulation of endothelial cell proliferation; triglyceride metabolic process; blood coagulation, intrinsic pathway; negative regulation of endothelial cell migration; negative regulation of angiogenesis | 17q24.2 |
| APOL1 | lipid transport; steroid metabolic process; cholesterol metabolic process; cytolysis; killing of cells of other organism; lipoprotein metabolic process; innate immune response; chloride transport; transport | 22q13.1 |
| APOL2 | lipoprotein metabolic process; lipid metabolic process; transport; lipid transport; acute-phase response; multicellular organismal development; cholesterol metabolic process; maternal process involved in female pregnancy | 22q12 |
| APOL3 | signal transduction; lipoprotein metabolic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; transport; inflammatory response; lipid transport | 22q13.1 |
| APOL4 | transport; lipid transport; lipoprotein metabolic process; lipid metabolic process | 22q11.2-q13.2 |
| APOL5 | lipoprotein metabolic process; transport; lipid metabolic process; lipid transport | 22q12.3 |
| APOL6 | transport; lipoprotein metabolic process; lipid transport | 22q12.3 |
| APOLD1 | multicellular organismal development; lipid transport; response to hypoxia; angiogenesis; cell differentiation; endothelial cell activation; lipoprotein metabolic process; regulation of endothelial cell differentiation | 12p13.1 |
| APOM | negative regulation of plasma lipoprotein particle oxidation; lipoprotein metabolic process; cholesterol homeostasis; high-density lipoprotein particle clearance; reverse cholesterol transport; high-density lipoprotein particle assembly; high-density lipoprotein particle remodeling; cholesterol efflux; response to glucose stimulus; transport | 6p21.33 |
| APOO | transport; lipid transport | Xp22.11 |
| APOOL | - | Xq21.1 |
| APOOP1 | - | 5q33.3 |
| APOPT1 | positive regulation of smooth muscle cell apoptosis; induction of apoptosis by intracellular signals; positive regulation of release of cytochrome c from mitochondria; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 14q32.33 |
| APP | platelet activation; extracellular matrix organization; forebrain development; neuron projection development; ionotropic glutamate receptor signaling pathway; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; regulation of multicellular organism growth; innate immune response; negative regulation of neuron differentiation; positive regulation of mitotic cell cycle; positive regulation of transcription from RNA polymerase II promoter; collateral sprouting in absence of injury; regulation of synapse structure and activity; neuromuscular process controlling balance; synaptic growth at neuromuscular junction; neuron apoptosis; smooth endoplasmic reticulum calcium ion homeostasis; regulation of gene expression; cell adhesion; dendrite development; suckling behavior; platelet degranulation; mRNA polyadenylation; regulation of translation; protein phosphorylation; cellular copper ion homeostasis; endocytosis; induction of apoptosis; regulation of epidermal growth factor-activated | 21q21.3 |
| APPBP2 | intracellular protein transport; intracellular transport | 17q23.2 |
| APPL1 | regulation of establishment of protein localization in plasma membrane; cell cycle; signal transduction; cell proliferation; insulin receptor signaling pathway; regulation of apoptotic process; regulation of glucose import; apoptotic process | 3p21.1-p14.3 |
| APPL2 | cell proliferation; signal transduction; cell cycle | 12q24.1 |
| APRT | grooming behavior; nucleobase-containing small molecule metabolic process; small molecule metabolic process; purine-containing compound salvage; nucleoside metabolic process; adenine salvage; purine ribonucleoside salvage; purine base metabolic process; lactation | 16q24 |
| APTR | - | - |
| APTX | response to hydrogen peroxide; regulation of protein stability; cell death; response to DNA damage stimulus; double-strand break repair; single strand break repair | 9p13.3 |
| AQP1 | response to drug; negative regulation of apoptotic process; positive regulation of angiogenesis; positive regulation of saliva secretion; positive regulation of fibroblast proliferation; multicellular organismal water homeostasis; transmembrane transport; cellular response to hydrogen peroxide; cellular response to inorganic substance; cellular response to mechanical stimulus; cellular response to copper ion; cellular response to mercury ion; cellular response to retinoic acid; cellular response to cAMP; cellular response to hypoxia; potassium ion transport; cellular response to salt stress; cellular hyperosmotic response; cellular response to dexamethasone stimulus; cellular response to nitric oxide; potassium ion transmembrane transport; maintenance of symbiont-containing vacuole via substance secreted by host; carbon dioxide transmembrane transport; odontogenesis; renal water transport; cGMP biosynthetic process; water transport; cell volume homeostasis; carbon dioxide transport; ammonium transport; glycer | 7p14 |
| AQP10 | water transport; response to toxin; transmembrane transport | 1q21.3 |
| AQP11 | ion transport; protein homooligomerization; endosomal lumen acidification; urea transport; glycerol transport; water transport; kidney development | 11q14.1 |
| AQP12B | - | 2q37.3 |
| AQP2 | response to lithium ion; glycerol transport; actin filament depolymerization; response to lipopolysaccharide; response to glucagon stimulus; response to starvation; cellular response to water deprivation; response to calcium ion; positive regulation of calcium ion transport; transmembrane transport; cellular response to copper ion; cellular response to mercury ion; metanephric collecting duct development; response to salt stress; response to hormone stimulus; renal water transport; water transport; cell volume homeostasis; apoptotic process; hyperosmotic response; female pregnancy; aging; excretion | 12q12-q13 |
| AQP3 | renal water absorption; transmembrane transport; response to calcium ion; regulation of keratinocyte differentiation; odontogenesis; response to vitamin D; response to retinoic acid; urea transport; excretion; glycerol transport; positive regulation of immune system process; transport; water transport | 9p13 |
| AQP4 | transport; water transport; nervous system development; excretion; multicellular organismal water homeostasis; transmembrane transport; cellular response to interferon-gamma | 18q11.2-q12.1 |
| AQP4-AS1 | - | 18q11.2 |
| AQP5 | transmembrane transport; camera-type eye morphogenesis; saliva secretion; odontogenesis; pancreatic juice secretion; excretion; carbon dioxide transport; water transport | 12q13 |
| AQP6 | transport; water transport; excretion; odontogenesis; transmembrane transport | 12q13 |
| AQP7 | renal water absorption; transmembrane transport; response to drug; urea transport; generation of precursor metabolites and energy; water transport; spermatogenesis; excretion; glycerol transport | 9p13 |
| AQP7P1 | - | 9q13 |
| AQP7P2 | - | 9q21.11 |
| AQP8 | transmembrane transport; canalicular bile acid transport; water transport; transport; cellular response to cAMP | 16p12 |
| AQP9 | pyrimidine base transport; cellular response to cAMP; transmembrane transport; carboxylic acid transport; response to mercury ion; water homeostasis; amine transport; glycerol transport; polyol transport; response to organic substance; metabolic process; canalicular bile acid transport; excretion; response to osmotic stress; immune response; purine base transport; water transport; transport | 15q |
| AQR | nuclear mRNA splicing, via spliceosome; RNA splicing | 15q14 |
| AR | negative regulation of epithelial cell proliferation; male genitalia morphogenesis; organ formation; regulation of developmental growth; male sex differentiation; positive regulation of transcription from RNA polymerase III promoter; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of integrin biosynthetic process; regulation of establishment of protein localization in plasma membrane; negative regulation of integrin biosynthetic process; regulation of catalytic activity; positive regulation of NF-kappaB transcription factor activity; activation of prostate induction by androgen receptor signaling pathway; morphogenesis of an epithelial fold; lateral sprouting involved in mammary gland duct morphogenesis; regulation of prostatic bud formation; prostate gland growth; prostate gland epithelium morphogenesis; epithelial cell differentiation involved in prostate gland development; tertiary branching involved in mammary g | Xq12 |
| ARAF | protein modification process; protein phosphorylation; positive regulation of peptidyl-serine phosphorylation; intracellular signal transduction; negative regulation of apoptotic process | Xp11.4-p11.2 |
| ARAP1 | negative regulation of stress fiber assembly; actin filament reorganization involved in cell cycle; regulation of cellular component movement; regulation of ARF GTPase activity; regulation of cell shape; small GTPase mediated signal transduction; signal transduction; positive regulation of Cdc42 GTPase activity; regulation of small GTPase mediated signal transduction; positive regulation of filopodium assembly | 11q13.4 |
| ARAP3 | negative regulation of Rho protein signal transduction; positive regulation of Rho GTPase activity; negative regulation of Rac protein signal transduction; regulation of ARF GTPase activity; cytoskeleton organization; negative regulation of cell migration; vesicle-mediated transport; regulation of cell shape; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 5q31.3 |
| ARC | anterior/posterior pattern specification; cell migration; endocytosis; cytoskeleton organization; multicellular organismal development; endoderm development; regulation of cell morphogenesis; regulation of neuronal synaptic plasticity; learning | 8q24.3 |
| ARCN1 | COPI coating of Golgi vesicle; vesicle-mediated transport; cellular membrane organization; retrograde vesicle-mediated transport, Golgi to ER; intracellular protein transport; transport | 11q23.3 |
| AREG | - | 4q13.3 |
| AREL1 | - | 14q24.3 |
| ARF1 | regulation of defense response to virus by virus; GTP catabolic process; cellular copper ion homeostasis; retrograde vesicle-mediated transport, Golgi to ER; post-Golgi vesicle-mediated transport; small GTPase mediated signal transduction; protein transport; viral reproduction; cellular membrane organization; vesicle-mediated transport; COPI coating of Golgi vesicle | 1q42 |
| ARF1P3 | - | 8q24.13 |
| ARF3 | vesicle-mediated transport; GTP catabolic process; small GTPase mediated signal transduction; protein transport | 12q13 |
| ARF4 | GTP catabolic process; epidermal growth factor receptor signaling pathway; small GTPase mediated signal transduction; brain development; protein transport; vesicle-mediated transport; response to axon injury | 3p21.2-p21.1 |
| ARF4P3 | - | 13q32.3 |
| ARF4P4 | - | 13q31.1 |
| ARF5 | small GTPase mediated signal transduction; GTP catabolic process; protein transport; vesicle-mediated transport | 7q31.3 |
| ARF6 | positive regulation of actin filament polymerization; ruffle organization; cortical actin cytoskeleton organization; nervous system development; protein localization at cell surface; regulation of Rac protein signal transduction; negative regulation of receptor-mediated endocytosis; regulation of filopodium assembly; regulation of dendritic spine development; positive regulation of establishment of protein localization in plasma membrane; cell differentiation; vesicle-mediated transport; protein transport; liver development; GTP catabolic process; apoptotic process; cellular component movement; cell adhesion; small GTPase mediated signal transduction | 14q21.3 |
| ARFGAP1 | COPI coating of Golgi vesicle; regulation of ARF GTPase activity; endoplasmic reticulum unfolded protein response; vesicle-mediated transport; retrograde vesicle-mediated transport, Golgi to ER; activation of signaling protein activity involved in unfolded protein response; protein transport; cellular membrane organization | 20q13.33 |
| ARFGAP2 | protein transport; vesicle-mediated transport; regulation of ARF GTPase activity | 11p11.2-p11.12 |
| ARFGAP3 | vesicle-mediated transport; protein secretion; regulation of ARF GTPase activity; intracellular protein transport | 22q13.2 |
| ARFGEF1 | exocytosis; regulation of ARF protein signal transduction | 8q13 |
| ARFGEF2 | vesicle-mediated transport; regulation of ARF protein signal transduction; intracellular signal transduction; exocytosis | 20q13.13 |
| ARFGEF3 | negative regulation of phosphatase activity; regulation of ARF protein signal transduction | 6q23.3 |
| ARFIP1 | regulation of protein secretion; intracellular protein transport | 4q31.3 |
| ARFIP2 | ruffle organization; actin cytoskeleton organization; lamellipodium assembly; small GTPase mediated signal transduction; cellular component movement | 11p15 |
| ARFRP1 | protein localization in Golgi apparatus; retrograde transport, endosome to Golgi; Golgi to plasma membrane protein transport; gastrulation; small GTPase mediated signal transduction; signal transduction; GTP catabolic process | 20q13.3 |
| ARG1 | cellular response to lipopolysaccharide; urea cycle; liver development; positive regulation of endothelial cell proliferation; arginine catabolic process; response to herbicide; response to manganese ion; response to selenium ion; cellular response to transforming growth factor beta stimulus; cellular response to dexamethasone stimulus; response to zinc ion; cellular response to glucagon stimulus; cellular response to hydrogen peroxide; protein homotrimerization; maternal process involved in female pregnancy; mammary gland involution; response to methylmercury; response to axon injury; response to steroid hormone stimulus; small molecule metabolic process; response to peptide hormone stimulus; response to amino acid stimulus; response to drug; cellular nitrogen compound metabolic process; response to vitamin E; response to cadmium ion; regulation of L-arginine import; lung development; collagen biosynthetic process; response to vitamin A | 6q23 |
| ARG2 | response to hypoxia; ureteric bud development; urea cycle; nitric oxide biosynthetic process; regulation of nitric oxide biosynthetic process; negative regulation of striated muscle contraction; response to cadmium ion; response to mercury ion; response to axon injury; negative regulation of nitric-oxide synthase activity; maternal process involved in female pregnancy; cellular response to lipopolysaccharide; cellular response to interferon-gamma; cellular response to dexamethasone stimulus; arginine metabolic process; small molecule metabolic process; response to amino acid stimulus; response to drug; cellular nitrogen compound metabolic process; response to vitamin E; lung development; regulation of L-arginine import; response to selenium ion; response to hormone stimulus; response to herbicide; response to nutrient; midgut development; apoptotic process; response to glucose stimulus | 14q24.1 |
| ARGLU1 | regulation of transcription, DNA-dependent | 13q33.3 |
| ARHGAP1 | Rho protein signal transduction; regulation of small GTPase mediated signal transduction; regulation of GTPase activity; positive regulation of Rho GTPase activity; small GTPase mediated signal transduction; signal transduction | 11p11.2 |
| ARHGAP10 | regulation of small GTPase mediated signal transduction; filopodium assembly; regulation of apoptotic process; small GTPase mediated signal transduction; signal transduction; cytoskeleton organization; apoptotic process | 4q31.23 |
| ARHGAP11A | regulation of small GTPase mediated signal transduction; signal transduction; small GTPase mediated signal transduction | 15q13.2 |
| ARHGAP12 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 10p11.22 |
| ARHGAP15 | small GTPase mediated signal transduction; positive regulation of Rac GTPase activity; signal transduction; regulation of small GTPase mediated signal transduction; regulation of cell shape | 2q22.2-q22.3 |
| ARHGAP16P | - | 14q21.2 |
| ARHGAP17 | regulation of small GTPase mediated signal transduction; calcium ion-dependent exocytosis; small GTPase mediated signal transduction; signal transduction; actin filament organization | 16p12.1 |
| ARHGAP18 | small GTPase mediated signal transduction; signal transduction; regulation of small GTPase mediated signal transduction | 6q22.33 |
| ARHGAP19 | regulation of small GTPase mediated signal transduction; signal transduction; small GTPase mediated signal transduction | 10q24.1 |
| ARHGAP20 | small GTPase mediated signal transduction; signal transduction; regulation of small GTPase mediated signal transduction | 11q23.1 |
| ARHGAP21 | signal transduction | 10p12.1|10p12.3 |
| ARHGAP22 | signal transduction; regulation of small GTPase mediated signal transduction; cell differentiation; multicellular organismal development; small GTPase mediated signal transduction; regulation of transcription, DNA-dependent; angiogenesis | 10q11.22 |
| ARHGAP22-IT1 | - | 10q11.22 |
| ARHGAP23 | signal transduction | 17q12 |
| ARHGAP24 | cell differentiation; angiogenesis; multicellular organismal development; signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 4q22.1 |
| ARHGAP25 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 2p13.3 |
| ARHGAP26 | signal transduction; small GTPase mediated signal transduction; nervous system development; actin cytoskeleton organization; positive regulation of Rho GTPase activity; filopodium assembly; regulation of small GTPase mediated signal transduction | 5q31 |
| ARHGAP26-IT1 | - | - |
| ARHGAP27 | positive regulation of Cdc42 GTPase activity; positive regulation of Rac GTPase activity; signal transduction; receptor-mediated endocytosis | 17q21.31 |
| ARHGAP28 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 18p11.31 |
| ARHGAP29 | Rho protein signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; positive regulation of Rho GTPase activity | 1p22.1 |
| ARHGAP30 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 1q23.3 |
| ARHGAP31 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 3q13.33 |
| ARHGAP32 | signal transduction; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction | 11q24.3 |
| ARHGAP33 | protein transport; signal transduction | 19q13.12 |
| ARHGAP35 | signal transduction; transcription, DNA-dependent; small GTPase mediated signal transduction; axon guidance; positive regulation of Rho GTPase activity; regulation of small GTPase mediated signal transduction; negative regulation of transcription, DNA-dependent | 19q13.3 |
| ARHGAP36 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | Xq26.1 |
| ARHGAP39 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; axon guidance | 8q24.3 |
| ARHGAP4 | regulation of small GTPase mediated signal transduction; apoptotic process; cytoskeleton organization; signal transduction; small GTPase mediated signal transduction; Rho protein signal transduction; induction of apoptosis by extracellular signals; positive regulation of Rho GTPase activity; nerve growth factor receptor signaling pathway | Xq28 |
| ARHGAP40 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 20q11.23 |
| ARHGAP42 | filopodium assembly; signal transduction | 11q22.1 |
| ARHGAP42P1 | - | - |
| ARHGAP42P2 | - | 2q21.1 |
| ARHGAP42P4 | - | 14q11.2 |
| ARHGAP44 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction | 17p12 |
| ARHGAP5 | signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; Rho protein signal transduction; positive regulation of Rho GTPase activity; GTP catabolic process; cell adhesion | 14q12 |
| ARHGAP5-AS1 | - | 14q12 |
| ARHGAP6 | actin filament organization; signal transduction; activation of phospholipase C activity; small GTPase mediated signal transduction; Rho protein signal transduction; positive regulation of phospholipase activity; actin filament polymerization; positive regulation of Rho GTPase activity; regulation of GTPase activity; regulation of small GTPase mediated signal transduction; negative regulation of stress fiber assembly; negative regulation of focal adhesion assembly | Xp22.3 |
| ARHGAP8 | positive regulation of Rho GTPase activity; signal transduction; small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction; positive regulation of ERK1 and ERK2 cascade | 22q13.31 |
| ARHGAP9 | small GTPase mediated signal transduction; signal transduction; regulation of small GTPase mediated signal transduction; positive regulation of GTPase activity | 12q13.3 |
| ARHGDIA | regulation of protein localization; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of axonogenesis; negative regulation of axonogenesis; positive regulation of axonogenesis; regulation of catalytic activity; Rho protein signal transduction; small GTPase mediated signal transduction; negative regulation of cell adhesion; cellular component movement; anti-apoptosis | 17q25.3 |
| ARHGDIB | small GTPase mediated signal transduction; actin cytoskeleton organization; negative regulation of cell adhesion; Rho protein signal transduction; multicellular organismal development; immune response; cellular component movement; regulation of small GTPase mediated signal transduction | 12p12.3 |
| ARHGDIG | regulation of small GTPase mediated signal transduction; Rho protein signal transduction; regulation of protein localization; regulation of catalytic activity; negative regulation of cell adhesion; small GTPase mediated signal transduction | 16p13.3 |
| ARHGEF1 | Rho protein signal transduction; termination of G-protein coupled receptor signaling pathway; regulation of Rho protein signal transduction; negative regulation of axonogenesis; nerve growth factor receptor signaling pathway; cell proliferation; regulation of axonogenesis | 19q13.13 |
| ARHGEF10 | myelination in peripheral nervous system; spindle assembly involved in mitosis; positive regulation of stress fiber assembly; centrosome duplication; regulation of Rho protein signal transduction; positive regulation of GTP catabolic process | 8p23 |
| ARHGEF10L | positive regulation of stress fiber assembly; positive regulation of transcription via sterol regulatory element binding; regulation of Rho protein signal transduction; positive regulation of Rho GTPase activity | 1p36.13 |
| ARHGEF11 | Rho protein signal transduction; apoptotic process; regulation of cell growth; cytokinesis; cellular component movement; striated muscle contraction; small GTPase mediated signal transduction; actin cytoskeleton organization; regulation of Rho protein signal transduction; termination of G-protein coupled receptor signaling pathway; positive regulation of transcription, DNA-dependent; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; establishment of cell polarity; induction of apoptosis by extracellular signals; axon guidance; G-protein coupled receptor signaling pathway | 1q21 |
| ARHGEF12 | apoptotic process; G-protein coupled receptor signaling pathway; small GTPase mediated signal transduction; axon guidance; induction of apoptosis by extracellular signals; regulation of Rho protein signal transduction; termination of G-protein coupled receptor signaling pathway; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction | 11q23.3 |
| ARHGEF15 | regulation of catalytic activity; regulation of Rho protein signal transduction; positive regulation of stress fiber assembly; negative regulation of synapse maturation | 17p13.1 |
| ARHGEF16 | positive regulation of establishment of protein localization in plasma membrane; nerve growth factor receptor signaling pathway; apoptotic process; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; regulation of Rho protein signal transduction; activation of Cdc42 GTPase activity; regulation of small GTPase mediated signal transduction; activation of Rac GTPase activity; cell chemotaxis | 1p36.3 |
| ARHGEF17 | regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; induction of apoptosis by extracellular signals; small GTPase mediated signal transduction; apoptotic process; actin cytoskeleton organization | 11q13.4 |
| ARHGEF18 | regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; apoptotic process; small GTPase mediated signal transduction; regulation of cell shape; induction of apoptosis by extracellular signals; actin cytoskeleton organization; regulation of Rho protein signal transduction | 19p13.3 |
| ARHGEF19 | regulation of Rho protein signal transduction; wound healing; positive regulation of Rho GTPase activity; regulation of actin cytoskeleton organization | 1p36.13 |
| ARHGEF2 | induction of apoptosis by extracellular signals; regulation of cell proliferation; intracellular signal transduction; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; negative regulation of neurogenesis; regulation of small GTPase mediated signal transduction; positive regulation of NF-kappaB transcription factor activity; cell division; establishment of mitotic spindle orientation; cell morphogenesis; intracellular protein transport; small GTPase mediated signal transduction; mitosis; cell cycle; negative regulation of microtubule depolymerization; apoptotic process; actin filament organization | 1q21-q22 |
| ARHGEF25 | regulation of Rho protein signal transduction | 12q13.3 |
| ARHGEF26 | regulation of Rho protein signal transduction | 3q25.2 |
| ARHGEF28 | - | 5q13.2 |
| ARHGEF3 | nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; induction of apoptosis by extracellular signals; apoptotic process; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; Rho protein signal transduction | 3p14.3 |
| ARHGEF33 | regulation of Rho protein signal transduction | 2p22.1 |
| ARHGEF34P | - | 7q35 |
| ARHGEF35 | - | 7q35 |
| ARHGEF37 | regulation of Rho protein signal transduction | 5q32 |
| ARHGEF38 | regulation of Rho protein signal transduction | 4q24 |
| ARHGEF39 | - | 9p13.3 |
| ARHGEF4 | regulation of Rho protein signal transduction; apoptotic process; small GTPase mediated signal transduction; induction of apoptosis by extracellular signals; lamellipodium assembly; intracellular signal transduction; filopodium assembly; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction | 2q22 |
| ARHGEF40 | regulation of Rho protein signal transduction | 14q11.2 |
| ARHGEF5 | regulation of Rho protein signal transduction; intracellular signal transduction | 7q35 |
| ARHGEF6 | induction of apoptosis by extracellular signals; nerve growth factor receptor signaling pathway; positive regulation of GTPase activity; regulation of Rho protein signal transduction; cell junction assembly; regulation of small GTPase mediated signal transduction; apoptotic process; JNK cascade; small GTPase mediated signal transduction | Xq26.3 |
| ARHGEF7 | positive regulation of apoptotic process; negative regulation of epidermal growth factor receptor signaling pathway; regulation of Rho protein signal transduction; nervous system development; induction of apoptosis by extracellular signals; epidermal growth factor receptor signaling pathway; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; signal transduction; apoptotic process | 13q34 |
| ARHGEF7-AS2 | - | - |
| ARHGEF7-IT1 | - | - |
| ARHGEF9 | transmembrane transport; apoptotic process; small GTPase mediated signal transduction; synaptic transmission; induction of apoptosis by extracellular signals; ion transmembrane transport; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction | Xq11.1 |
| ARHGEF9-IT1 | - | - |
| ARID1A | chromatin-mediated maintenance of transcription; chromatin organization; nucleosome disassembly; intracellular estrogen receptor signaling pathway; nervous system development; regulation of transcription from RNA polymerase II promoter; androgen receptor signaling pathway; nucleosome mobilization; glucocorticoid receptor signaling pathway; positive regulation of transcription, DNA-dependent; chromatin remodeling | 1p35.3 |
| ARID1B | regulation of transcription, DNA-dependent; nervous system development; chromatin modification; chromatin-mediated maintenance of transcription | 6q25.1 |
| ARID2 | nucleosome disassembly; regulation of transcription, DNA-dependent; chromatin modification | 12q12 |
| ARID3A | regulation of transcription, DNA-dependent | 19p13.3 |
| ARID3B | regulation of transcription, DNA-dependent | 15q24 |
| ARID3C | regulation of transcription, DNA-dependent | 9p13.3 |
| ARID4A | negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 14q23.1 |
| ARID4B | regulation of transcription, DNA-dependent | 1q42.1-q43 |
| ARID5A | negative regulation of transcription, DNA-dependent | 2q11.2 |
| ARID5B | muscle organ morphogenesis; positive regulation of sequence-specific DNA binding transcription factor activity; kidney development; liver development; nitrogen compound metabolic process; male gonad development; female gonad development; post-embryonic development; fibroblast migration; adrenal gland development; multicellular organism growth; skeletal system morphogenesis; palate development; adipose tissue development; face morphogenesis; fat pad development; negative regulation of transcription, DNA-dependent; platelet-derived growth factor receptor signaling pathway; cell development; fat cell differentiation | 10q21.2 |
| ARIH1 | ubiquitin-dependent protein catabolic process; protein ubiquitination; cytokine-mediated signaling pathway | 15q24 |
| ARIH2 | protein K63-linked ubiquitination; protein K48-linked ubiquitination; hemopoietic stem cell proliferation; developmental cell growth; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; multicellular organismal development; protein polyubiquitination | 3p21 |
| ARIH2OS | - | 3p21.31 |
| ARIH2P1 | - | 18q12.1 |
| ARL1 | toxin metabolic process; Golgi vesicle transport; retrograde transport, endosome to Golgi; protein localization in Golgi apparatus; activation of phospholipase D activity; small GTPase mediated signal transduction; Golgi organization; GTP catabolic process | 12q23.2 |
| ARL10 | small GTPase mediated signal transduction | 5q35.2 |
| ARL11 | small GTPase mediated signal transduction | 13q14.2 |
| ARL13A | small GTPase mediated signal transduction | Xq22.1 |
| ARL13B | small GTPase mediated signal transduction | 3q11.1 |
| ARL14 | small GTPase mediated signal transduction | 3q25.33 |
| ARL14EP | - | 11p14.1 |
| ARL14EPL | - | 5q23.1 |
| ARL15 | small GTPase mediated signal transduction | 5p15.2 |
| ARL16 | small GTPase mediated signal transduction | 17q25.3 |
| ARL17A | - | 17q21.31 |
| ARL17B | vesicle-mediated transport; protein transport; small GTPase mediated signal transduction | 17q21.31 |
| ARL2 | positive regulation of microtubule polymerization; centrosome organization; maintenance of protein location in nucleus; negative regulation of GTPase activity; tight junction assembly; regulation of microtubule polymerization; acetylcholine transport; small GTPase mediated signal transduction; cell cycle; tubulin complex assembly; GTP catabolic process; positive regulation of cell-substrate adhesion | 11q13 |
| ARL2BP | signal transduction; maintenance of protein location in nucleus; positive regulation of tyrosine phosphorylation of Stat3 protein | 16q13 |
| ARL2BPP4 | - | 5q23.3 |
| ARL3 | small GTPase mediated signal transduction; cilium morphogenesis; photoreceptor cell development; protein transport; cell cycle; kidney development; cytokinesis | 10q23.3 |
| ARL4A | brown fat cell differentiation; small GTPase mediated signal transduction | 7p21.3 |
| ARL4C | endocytic recycling; small GTPase mediated signal transduction; transport; GTP catabolic process | 2q37.1 |
| ARL4D | protein secretion; small GTPase mediated signal transduction; GTP catabolic process | 17q21.31 |
| ARL4P2 | - | 4p14 |
| ARL5A | small GTPase mediated signal transduction | 2q23.3 |
| ARL5AP2 | - | 10q24.2 |
| ARL5AP4 | - | 22q11.2 |
| ARL5B | small GTPase mediated signal transduction | 10p12.31 |
| ARL5B-AS1 | - | - |
| ARL5C | small GTPase mediated signal transduction | 17q12 |
| ARL6 | protein targeting to membrane; cell projection organization; melanosome transport; cilium assembly; response to stimulus; protein polymerization; Wnt receptor signaling pathway; visual perception; determination of left/right symmetry; small GTPase mediated signal transduction | 3q11.2 |
| ARL6IP1 | cotranslational protein targeting to membrane | 16p12-p11.2 |
| ARL6IP4 | RNA splicing | 12q24.31 |
| ARL6IP5 | negative regulation of transport; L-glutamate transport | 3p14 |
| ARL6IP6 | - | 2q23.3 |
| ARL8A | cell division; GTP catabolic process; cell cycle; chromosome segregation; mitosis; small GTPase mediated signal transduction | 1q32.1 |
| ARL8B | small GTPase mediated signal transduction; cell division; chromosome segregation; cell cycle; GTP catabolic process | 3p26.1 |
| ARL9 | small GTPase mediated signal transduction | 4q12 |
| ARMC1 | metal ion transport | 8q13.1 |
| ARMC10 | regulation of growth | 7q22.1 |
| ARMC10P1 | - | 3q11.2 |
| ARMC12 | - | 6p21.31 |
| ARMC2 | - | 6q21 |
| ARMC3 | - | 10p12.31 |
| ARMC4 | - | 10p12.1-p11.23 |
| ARMC5 | - | 16p11.2 |
| ARMC6 | - | 19p13.11 |
| ARMC7 | - | 17q25.1 |
| ARMC8 | - | 3q22.3 |
| ARMC9 | - | 2q37.1 |
| ARMCX1 | - | Xq21.33-q22.2 |
| ARMCX2 | - | Xq21.33-q22.2 |
| ARMCX3 | - | Xq22.1 |
| ARMCX4 | - | Xq22.1 |
| ARMCX5 | - | Xq22.1-q22.3 |
| ARMCX6 | - | Xq21.33-q22.3 |
| ARMT1 | - | 6q25.1 |
| ARNT | response to hypoxia; embryonic placenta development; positive regulation of endothelial cell proliferation; transcription, DNA-dependent; regulation of transcription, DNA-dependent; positive regulation vascular endothelial growth factor production; cell differentiation; positive regulation of vascular endothelial growth factor receptor signaling pathway; mRNA transcription from RNA polymerase II promoter; positive regulation of protein sumoylation; positive regulation of hormone biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of glycolysis; positive regulation of erythrocyte differentiation; regulation of transcription from RNA polymerase II promoter in response to oxidative stress | 1q21 |
| ARNT2 | response to hypoxia; in utero embryonic development; regulation of transcription, DNA-dependent; central nervous system development; positive regulation of cell proliferation; response to estradiol stimulus; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of apoptotic process | 15q24 |
| ARNTL | circadian rhythm; positive regulation of transcription from RNA polymerase II promoter | 11p15 |
| ARNTL2 | regulation of transcription, DNA-dependent; entrainment of circadian clock; circadian rhythm; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter | 12p12.2-p11.2 |
| ARNTL2-AS1 | - | 12p11.23 |
| ARPC1A | regulation of actin filament polymerization; actin cytoskeleton organization | 7q22.1 |
| ARPC1B | regulation of actin filament polymerization; cellular component movement | 7q22.1 |
| ARPC2 | cellular component movement; positive regulation of actin filament polymerization | 2q36.1 |
| ARPC3 | cellular component movement; regulation of actin filament polymerization | 12q24.11 |
| ARPC3P1 | - | 20q13.13 |
| ARPC3P5 | - | 6p22.3 |
| ARPC4 | actin nucleation; actin filament polymerization | 3p25.3 |
| ARPC5 | regulation of actin filament polymerization; actin cytoskeleton organization; cellular component movement | 1q25.3 |
| ARPC5L | regulation of actin filament polymerization | 9q33.3 |
| ARPIN | - | 15q26.1 |
| ARPP19 | positive regulation of gluconeogenesis; cell cycle; G2/M transition of mitotic cell cycle; mitosis; positive regulation of glucose import; cell division | 15q21.2 |
| ARPP21 | cellular response to heat | 3p22.3 |
| ARR3 | regulation of protein phosphorylation; endocytosis; signal transduction; visual perception; response to stimulus | Xcen-q21 |
| ARRB1 | post-Golgi vesicle-mediated transport; negative regulation of signal transduction; blood coagulation; cellular membrane organization; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; G-protein coupled receptor internalization; protein transport; protein ubiquitination; positive regulation of ERK1 and ERK2 cascade; positive regulation of transcription from RNA polymerase II promoter; histone H4 acetylation; positive regulation of GTPase activity; proteasomal ubiquitin-dependent protein catabolic process; stress fiber assembly; negative regulation of catalytic activity; positive regulation of histone acetylation; positive regulation of Rho protein signal transduction; negative regulation of interleukin-8 production; negative regulation of interleukin-6 production; negative regulation of NF-kappaB transcription factor activity; negative regulation of protein ubiquitination; platelet activation | 11q13 |
| ARRB2 | blood coagulation; G-protein coupled receptor internalization; desensitization of G-protein coupled receptor protein signaling pathway by arrestin; transcription from RNA polymerase II promoter; signal transduction; negative regulation of NF-kappaB transcription factor activity; platelet activation; negative regulation of protein ubiquitination; protein ubiquitination; protein transport; negative regulation of signal transduction; transforming growth factor beta receptor signaling pathway; receptor internalization; proteasomal ubiquitin-dependent protein catabolic process; negative regulation of natural killer cell mediated cytotoxicity; cell chemotaxis; positive regulation of ERK1 and ERK2 cascade | 17p13 |
| ARRDC1 | - | 9q34.3 |
| ARRDC1-AS1 | - | 9q34.3 |
| ARRDC2 | - | 19p13.11 |
| ARRDC3 | signal transduction | 5q14.3 |
| ARRDC3-AS1 | - | 5q14.3 |
| ARRDC4 | signal transduction | 15q26.3 |
| ARRDC5 | signal transduction | 19p13.3 |
| ARSA | glycosphingolipid metabolic process; binding of sperm to zona pellucida; small molecule metabolic process; sphingolipid metabolic process | 22q13.33 |
| ARSB | response to nutrient; response to pH; response to estrogen stimulus; response to methylmercury; lysosomal transport; central nervous system development; lysosome organization; autophagy | 5q14.1 |
| ARSD | - | Xp22.3 |
| ARSD-AS1 | - | - |
| ARSDP1 | - | Yq11.21 |
| ARSE | skeletal system development | Xp22.3 |
| ARSEP1 | - | Yq11.21 |
| ARSF | - | Xp22.3 |
| ARSG | sulfur compound metabolic process | 17q24.2 |
| ARSH | - | Xp22.33 |
| ARSI | - | 5q32 |
| ARSJ | - | 4q26 |
| ARSK | - | 5q15 |
| ART1 | innate immune response; protein ADP-ribosylation | 11p15 |
| ART3 | protein ADP-ribosylation | 4q21.1|4p15.1-p14 |
| ART4 | arginine metabolic process; protein ADP-ribosylation | 12p13-p12 |
| ARTN | neuroblast proliferation; axon guidance; signal transduction | 1p33-p32 |
| ARV1 | sphingolipid metabolic process; lipid metabolic process | 1q42.2 |
| ARVCF | cell adhesion; multicellular organismal development | 22q11.21 |
| ARVP6125 | - | 3q22.1 |
| ARX | cell proliferation in forebrain; positive regulation of organ growth; regulation of cell proliferation; cell differentiation; neuron migration; multicellular organismal development; nervous system development; axon guidance; globus pallidus development; olfactory bulb development; cerebral cortex tangential migration; embryonic olfactory bulb interneuron precursor migration; cerebral cortex GABAergic interneuron migration | Xp21.3 |
| AS3MT | response to arsenic-containing substance; arsonoacetate metabolic process; toxin metabolic process | 10q24.32 |
| ASAH1 | sphingolipid metabolic process; glycosphingolipid metabolic process; ceramide metabolic process; lipid metabolic process; small molecule metabolic process | 8p22 |
| ASAH2 | small molecule metabolic process; sphingolipid metabolic process; lipid metabolic process; glycosphingolipid metabolic process; ceramide metabolic process; apoptotic process; signal transduction | 10q11.21 |
| ASAH2B | - | 10q11.23 |
| ASAP1 | filopodium assembly; cilium morphogenesis; regulation of ARF GTPase activity; cell projection organization; signal transduction | 8q24.1-q24.2 |
| ASAP1-IT1 | - | 8q24.21 |
| ASAP1-IT2 | - | - |
| ASAP2 | positive regulation of catalytic activity; regulation of ARF GTPase activity | 2p25|2p24 |
| ASAP3 | regulation of ARF GTPase activity | 1p36.12 |
| ASB1 | multicellular organismal development; male genitalia development; intracellular signal transduction; negative regulation of cytokine biosynthetic process | 2q37 |
| ASB10 | intracellular signal transduction | 7q36.1 |
| ASB11 | intracellular signal transduction | Xp22.31 |
| ASB12 | intracellular signal transduction | Xq11.2 |
| ASB13 | intracellular signal transduction | 10p15.1 |
| ASB14 | intracellular signal transduction | 3p21.1 |
| ASB15 | intracellular signal transduction | 7q31.31 |
| ASB16 | intracellular signal transduction | 17q21.31 |
| ASB16-AS1 | - | 17q21.31 |
| ASB17 | intracellular signal transduction | 1p31.1 |
| ASB18 | intracellular signal transduction | 2q37.2 |
| ASB2 | intracellular signal transduction; signal transduction | 14q31-q32 |
| ASB3 | intracellular signal transduction | 2p16.2 |
| ASB4 | intracellular signal transduction | 7q21-q22 |
| ASB5 | intracellular signal transduction | 4q34.2 |
| ASB6 | intracellular signal transduction | 9q34.13 |
| ASB7 | intracellular signal transduction | 15q26.3 |
| ASB8 | intracellular signal transduction | 12q13.11 |
| ASB9 | protein ubiquitination; intracellular signal transduction; positive regulation of protein catabolic process | Xp22.2 |
| ASCC1 | regulation of transcription, DNA-dependent | 10pter-q25.3 |
| ASCC2 | regulation of transcription, DNA-dependent | 22q12.1 |
| ASCC3 | regulation of transcription, DNA-dependent | 6q16 |
| ASCL1 | negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sympathetic nervous system development; positive regulation of neuron apoptosis; neuron fate specification; positive regulation of neurogenesis; response to folic acid; subpallium neuron fate commitment; regulation of timing of subpallium neuron differentiation; olfactory pit development; lung epithelial cell differentiation; lung neuroendocrine cell differentiation; stomach neuroendocrine cell differentiation; carotid body glomus cell differentiation; adrenal chromaffin cell differentiation; response to epidermal growth factor stimulus; cellular response to magnetism; positive regulation of neuron differentiation; neuron migration; noradrenergic neuron fate commitment; Notch signaling pathway; pattern specification process; neuroblast fate determination; positive regulation of Notch signaling pathway; neuroblast proliferation; response to lithium ion; oligodendrocyte development; spinal | 12q23.2 |
| ASCL2 | central nervous system development; spongiotrophoblast layer development; spongiotrophoblast differentiation; somatic stem cell maintenance; negative regulation of Schwann cell proliferation; peripheral nervous system development; negative regulation of transcription from RNA polymerase II promoter; response to hypoxia; in utero embryonic development; placenta development; transcription, DNA-dependent; cell differentiation; regulation of transcription, DNA-dependent; multicellular organismal development | 11p15.5 |
| ASF1A | negative regulation of chromatin silencing; DNA repair; chromatin modification; chromatin assembly or disassembly; regulation of transcription, DNA-dependent; nucleosome assembly | 6q22.31 |
| ASF1B | nucleosome assembly; chromatin assembly or disassembly; regulation of transcription, DNA-dependent; multicellular organismal development; spermatogenesis; chromatin modification; cell differentiation | 19p13.12 |
| ASGR1 | receptor-mediated endocytosis; cellular response to extracellular stimulus | 17p13.2 |
| ASGR2 | regulation of protein stability; lipid homeostasis; bone mineralization; glycoprotein metabolic process; cell surface receptor signaling pathway; endocytosis | 17p |
| ASH1L | regulation of transcription, DNA-dependent; DNA packaging; transcription from RNA polymerase II promoter; cell-cell signaling; chromatin modification | 1q22 |
| ASH1L-AS1 | - | 1q22 |
| ASH2L | positive regulation of transcription from RNA polymerase II promoter; histone H3-K4 methylation; transcription, DNA-dependent; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; response to DNA damage stimulus; positive regulation of cell proliferation; chromatin modification; hemopoiesis; response to estrogen stimulus | 8p11.2 |
| ASIC1 | signal transduction; response to pH; calcium ion transport; sodium ion transport; ion transport; transport | 12q12 |
| ASIC2 | ion transport; synaptic transmission; central nervous system development; peripheral nervous system development; monovalent inorganic cation transport | 17q12 |
| ASIC3 | transport; ion transport; signal transduction; sensory perception; sodium ion transmembrane transport | 7q35 |
| ASIC4 | sodium ion export; ion transport; transport | 2q35 |
| ASIC5 | ion transport | 4q32.1 |
| ASIP | melanosome transport; genetic imprinting; pigmentation; regulation of molecular function, epigenetic; melanin biosynthetic process; melanosome organization; hormone-mediated signaling pathway; adult feeding behavior; cell-cell signaling; signal transduction; generation of precursor metabolites and energy | 20q11.2-q12 |
| ASL | cellular response to dexamethasone stimulus; cellular response to hypoxia; cellular response to glucagon stimulus; cellular response to tumor necrosis factor; cellular response to interferon-gamma; cellular response to cAMP; cellular response to ammonium ion; diaphragm development; response to growth hormone stimulus; response to steroid hormone stimulus; small molecule metabolic process; response to drug; arginine biosynthetic process via ornithine; response to lipopolysaccharide; urea cycle; argininosuccinate metabolic process; response to acid; kidney development; liver development; internal protein amino acid acetylation; arginine catabolic process; midgut development; aging; response to nutrient; locomotory behavior; cellular amino acid biosynthetic process; post-embryonic development; response to zinc ion; response to amine stimulus; ammonia assimilation cycle; cellular nitrogen compound metabolic process | 7q11.21 |
| ASMT | indolalkylamine biosynthetic process; translation; melatonin biosynthetic process; cellular nitrogen compound metabolic process; small molecule metabolic process | Xp22.3 or Yp11.3 |
| ASMTL | - | Xp22.3; Yp11.3 |
| ASMTL-AS1 | - | Xp22.33; Yp11.32 |
| ASNA1 | detoxification of arsenic-containing substance; transport; arsenite transport | 19q13.3 |
| ASNS | cellular response to glucose starvation; positive regulation of mitotic cell cycle; small molecule metabolic process; response to amino acid stimulus; negative regulation of apoptotic process; cellular nitrogen compound metabolic process; response to follicle-stimulating hormone stimulus; liver development; asparagine biosynthetic process; glutamine metabolic process; activation of signaling protein activity involved in unfolded protein response; cellular amino acid biosynthetic process; response to light stimulus; response to mechanical stimulus; response to toxin; endoplasmic reticulum unfolded protein response; response to methotrexate; response to nutrient levels; cellular response to hormone stimulus | 7q21.3 |
| ASNSD1 | asparagine biosynthetic process; glutamine metabolic process; cellular amino acid biosynthetic process | 2p24.3-q21.3 |
| ASNSP1 | - | 8q11.1 |
| ASNSP3 | - | 13q32 |
| ASPA | metabolic process; central nervous system myelination; positive regulation of oligodendrocyte differentiation; aspartate catabolic process | 17p13.3 |
| ASPDH | NADP catabolic process; NAD biosynthetic process; pyridine nucleotide biosynthetic process | 19q13.33 |
| ASPG | cellular amino acid metabolic process; lipid catabolic process | 14q32.33 |
| ASPH | pattern specification process; palate development; peptidyl-aspartic acid hydroxylation; limb morphogenesis; peptidyl-amino acid modification; negative regulation of cell proliferation; face morphogenesis; muscle contraction | 8q12.1 |
| ASPHD1 | peptidyl-amino acid modification | 16p11.2 |
| ASPHD2 | peptidyl-amino acid modification | 22q12.1 |
| ASPM | cell division; cell cycle; mitosis; forebrain neuroblast division; negative regulation of neuron differentiation; negative regulation of asymmetric cell division; maintenance of centrosome location | 1q31 |
| ASPN | bone mineralization; negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of tooth mineralization | 9q22 |
| ASPRV1 | skin development; proteolysis; protein processing | 2p13.3 |
| ASPSCR1 | intracellular protein transport; glucose homeostasis; regulation of glucose import | 17q25.3 |
| ASRGL1 | protein maturation; asparagine catabolic process via L-aspartate | 11q12.3 |
| ASS1 | response to growth hormone stimulus; diaphragm development; response to fatty acid; cellular response to lipopolysaccharide; cellular response to amino acid stimulus; cellular response to ammonium ion; cellular response to cAMP; cellular response to interferon-gamma; cellular response to tumor necrosis factor; cellular response to glucagon stimulus; cellular response to oleic acid; cellular response to dexamethasone stimulus; small molecule metabolic process; response to steroid hormone stimulus; urea cycle; argininosuccinate metabolic process; kidney development; liver development; arginine biosynthetic process; acute-phase response; midgut development; aging; response to nutrient; response to biotic stimulus; response to glucocorticoid stimulus; response to drug; cellular nitrogen compound metabolic process; response to estradiol stimulus; response to mycotoxin; cellular amino acid biosynthetic process; response to zinc ion | 9q34.1 |
| ASS1P1 | - | 6p22.3 |
| ASS1P10 | - | 5q32 |
| ASS1P11 | - | 7p15.3 |
| ASS1P12 | - | 9p21.1 |
| ASS1P13 | - | 11q22.3 |
| ASS1P2 | - | 2p22.1 |
| ASS1P4 | - | Xp22.33 |
| ASS1P5 | - | Xq23 |
| ASS1P6 | - | Yq11.21 |
| ASS1P7 | - | 3q26.32 |
| ASS1P8 | - | 4q31.22 |
| ASS1P9 | - | 5q11.2 |
| ASTE1 | DNA repair | 3q22.1 |
| ASTL | proteolysis | 2q11.1 |
| ASTN1 | cell migration; neuron cell-cell adhesion; cell adhesion | 1q25.2 |
| ASTN2 | - | 9q33.1 |
| ASTN2-AS1 | - | 9q33.1 |
| ASUN | regulation of mitotic cell cycle; sperm motility; cell division; regulation of fertilization; cell cycle; mitosis | 12p11.23 |
| ASXL1 | regulation of transcription, DNA-dependent; chromatin modification | 20q11 |
| ASXL2 | regulation of transcription, DNA-dependent | 2p24.1 |
| ASXL3 | regulation of transcription, DNA-dependent | 18q11 |
| ASZ1 | multicellular organismal development; spermatogenesis; cell differentiation; gene silencing by RNA; piRNA metabolic process; signal transduction; male meiosis; DNA methylation involved in gamete generation | 7q31.2 |
| ATAD1 | negative regulation of synaptic transmission, glutamatergic; positive regulation of receptor internalization; ATP catabolic process; learning; memory | 10q23.31 |
| ATAD2 | regulation of transcription, DNA-dependent | 8q24.13 |
| ATAD2B | - | 2p24.1-p23.3 |
| ATAD3A | cell growth; negative regulation of apoptotic process | 1p36.33 |
| ATAD3B | - | 1p36.33 |
| ATAD3C | - | 1p36.33 |
| ATAD5 | response to DNA damage stimulus | 17q11.2 |
| ATAT1 | - | 6p21.33 |
| ATCAY | transport | 19p13.3 |
| ATE1 | protein arginylation | 10q26.13 |
| ATF1 | stress-activated MAPK cascade; response to cobalt ion; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 4 signaling pathway; TRIF-dependent toll-like receptor signaling pathway; cellular protein complex assembly; innate immune response; positive regulation of DNA replication; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; response to organic cyclic compound; positive regulation of neuron projection development; Toll signaling pathway; regulation of transcription, DNA-dependent; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway | 12q13 |
| ATF2 | regulation of transcription from RNA polymerase II promoter; stress-activated MAPK cascade; regulation of sequence-specific DNA binding transcription factor activity; fat cell differentiation; innate immune response; TRIF-dependent toll-like receptor signaling pathway; adipose tissue development; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; positive regulation of transforming growth factor beta2 production; Toll signaling pathway; response to osmotic stress; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; outflow tract morphogenesis; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway | 2q32 |
| ATF3 | gluconeogenesis; regulation of transcription, DNA-dependent; positive regulation of cell proliferation; endoplasmic reticulum unfolded protein response; negative regulation of transcription, DNA-dependent; activation of signaling protein activity involved in unfolded protein response | 1q32.3 |
| ATF4 | gluconeogenesis; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; cellular amino acid metabolic process; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response; response to endoplasmic reticulum stress; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 22q13.1 |
| ATF4P3 | - | 17q25.1 |
| ATF5 | negative regulation of astrocyte differentiation; negative regulation of neurogenesis; regulation of transcription from RNA polymerase II promoter; anti-apoptosis | 19q13.3 |
| ATF6 | regulation of transcription from RNA polymerase II promoter; protein folding; response to stress; endoplasmic reticulum unfolded protein response; signal transduction; positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response; activation of signaling protein activity involved in unfolded protein response; response to unfolded protein | 1q22-q23 |
| ATF6B | transcription, DNA-dependent; regulation of transcription, DNA-dependent; response to unfolded protein; signal transduction | 6p21.3 |
| ATF7 | regulation of transcription, DNA-dependent; interspecies interaction between organisms | 12q13 |
| ATF7IP | interspecies interaction between organisms; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; DNA methylation; regulation of RNA polymerase II transcriptional preinitiation complex assembly; negative regulation of transcription from RNA polymerase II promoter | 12p13.1 |
| ATF7IP2 | regulation of transcription, DNA-dependent | 16p13.13 |
| ATG10 | protein lipidation; autophagy in response to ER overload; protein modification by small protein conjugation; autophagy; positive regulation of protein modification process; protein transport | 5q14.1 |
| ATG101 | autophagic vacuole assembly; autophagy | 12q13.13 |
| ATG12 | autophagy; autophagic vacuole assembly; innate immune response; negative regulation of type I interferon production | 5q21-q22 |
| ATG12P1 | - | 17q25.1 |
| ATG12P2 | - | - |
| ATG13 | autophagic vacuole assembly; autophagy | 11p11.2 |
| ATG14 | autophagic vacuole assembly; positive regulation of autophagy | 14q22.3 |
| ATG16L1 | autophagic vacuole assembly; autophagy; protein transport; protein homooligomerization | 2q37.1 |
| ATG16L2 | autophagy; protein transport | 11q13.4 |
| ATG2A | - | 11q13.1 |
| ATG2B | - | 14q32.2 |
| ATG3 | mitochondrial fragmentation involved in apoptosis; protein ubiquitination; protein transport; autophagy; protein targeting to membrane; protein modification process; autophagic vacuole assembly | 3q13.2 |
| ATG4A | proteolysis; autophagy; protein transport | Xq22.1-q22.3 |
| ATG4B | protein transport; autophagy; proteolysis; autophagic vacuole assembly | 2q37.3 |
| ATG4C | autophagic vacuole assembly; proteolysis; autophagy; protein transport; protein targeting to membrane | 1p31.3 |
| ATG4D | proteolysis; autophagy; protein transport | 19p13.2 |
| ATG5 | otolith development; autophagic vacuole assembly; response to drug; vasodilation; negative regulation of type I interferon production; blood vessel remodeling; negative regulation of apoptotic process; post-translational protein modification; innate immune response; ventricular cardiac muscle cell development; heart contraction; autophagy; negative regulation of protein ubiquitination | 6q21 |
| ATG7 | neurological system process; negative regulation of apoptotic process; response to starvation; cardiac muscle cell development; central nervous system neuron axonogenesis; pyramidal neuron development; cerebral cortex development; protein catabolic process; neuron projection development; regulation of protein ubiquitination; positive regulation of protein modification process; protein modification by small protein conjugation; cerebellar Purkinje cell layer development; protein modification process; protein transport; adult walking behavior; organelle organization; cellular membrane fusion; autophagy; cellular amino acid metabolic process; protein lipidation; liver development; post-embryonic development | 3p25.3 |
| ATG9A | autophagic vacuole assembly; autophagy; protein transport | 2q35 |
| ATG9B | autophagy; autophagic vacuole assembly | 7q36.1 |
| ATHL1 | carbohydrate metabolic process | 11p15.5 |
| ATIC | small molecule metabolic process; organ regeneration; purine ribonucleoside monophosphate biosynthetic process; purine nucleotide biosynthetic process; purine base metabolic process; nucleobase-containing compound metabolic process; nucleobase-containing small molecule metabolic process | 2q35 |
| ATL1 | endoplasmic reticulum organization; GTP catabolic process; protein homooligomerization; cell death; axonogenesis | 14q22.1 |
| ATL2 | GTP catabolic process; protein homooligomerization; Golgi organization; ER to Golgi vesicle-mediated transport; endoplasmic reticulum organization | 2p22.3 |
| ATL3 | endoplasmic reticulum organization; protein homooligomerization; Golgi organization; GTP catabolic process; ER to Golgi vesicle-mediated transport | 11q13.1 |
| ATM | response to ionizing radiation; peptidyl-serine phosphorylation; negative regulation of B cell proliferation; female gamete generation; G2/M transition DNA damage checkpoint; DNA damage response, signal transduction resulting in induction of apoptosis; cell death; heart development; brain development; DNA repair; phosphatidylinositol-3-phosphate biosynthetic process; lipoprotein catabolic process; positive regulation of apoptotic process; negative regulation of apoptotic process; positive regulation of DNA damage response, signal transduction by p53 class mediator; positive regulation of neuron apoptosis; protein autophosphorylation; regulation of cell cycle; histone mRNA catabolic process; cellular response to gamma radiation; reciprocal meiotic recombination; replicative senescence; cell cycle checkpoint; double-strand break repair via homologous recombination; response to hypoxia; somitogenesis; pre-B cell allelic exclusion; double-strand break repair; response to DNA damage stimulus; DNA damage induced pr | 11q22-q23 |
| ATMIN | response to DNA damage stimulus | 16q23.2 |
| ATN1 | cell migration; maintenance of cell polarity; regulation of neuron differentiation; toxin metabolic process; cell death; central nervous system development; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; neuron apoptosis | 12p13.31 |
| ATOH1 | transcription from RNA polymerase II promoter; axon guidance; multicellular organismal development; apoptotic process; auditory receptor cell fate determination; central nervous system development; brain development; cerebral cortex development; inner ear morphogenesis; auditory receptor cell fate specification; regulation of transcription, DNA-dependent; neuron migration; positive regulation of auditory receptor cell differentiation; positive regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter | 4q22 |
| ATOH8 | multicellular organismal development; regulation of transcription, DNA-dependent; cell differentiation; nervous system development | 2p11.2 |
| ATOX1 | ion transport; copper ion transport; cellular copper ion homeostasis; response to oxidative stress; metal ion transport | 5q32 |
| ATP10A | transmembrane transport; cation transport; phospholipid translocation; ion transmembrane transport; regulation of cell shape | 15q11.2 |
| ATP10B | phospholipid translocation; cation transport | 5q34 |
| ATP10D | ion transmembrane transport; phospholipid translocation; transmembrane transport; cation transport | 4p12 |
| ATP11A | cation transport; phospholipid translocation | 13q34 |
| ATP11A-AS1 | - | - |
| ATP11B | ion transmembrane transport; phospholipid translocation; transmembrane transport; aminophospholipid transport; ion transport; cation transport | 3q27 |
| ATP11C | phospholipid translocation; ion transmembrane transport; cation transport; transmembrane transport | Xq27.1 |
| ATP12A | potassium ion transport; transmembrane transport; ion transmembrane transport; proton transport; ATP biosynthetic process | 13q12.12|13q12.1-q12.3 |
| ATP13A1 | cation transport | 19p13.11 |
| ATP13A2 | cation transport | 1p36 |
| ATP13A3 | cation transport | 3q29 |
| ATP13A4 | cation transport; ATP biosynthetic process | 3q29 |
| ATP13A5 | cation transport; ATP biosynthetic process | 3q29 |
| ATP13A5-AS1 | - | - |
| ATP1A1 | ATP biosynthetic process; transmembrane transport; positive regulation of striated muscle contraction; positive regulation of heart contraction; negative regulation of heart contraction; response to drug; ion transmembrane transport; negative regulation of glucocorticoid biosynthetic process; dephosphorylation; regulation of blood pressure; potassium ion transport; ATP catabolic process; regulation of sodium ion transport; regulation of the force of heart contraction; sodium ion export | 1p21 |
| ATP1A1-AS1 | - | 1p13.1 |
| ATP1A2 | regulation of vasoconstriction; ATP hydrolysis coupled proton transport; regulation of blood pressure; visual learning; adult locomotory behavior; negative regulation of striated muscle contraction; ion transmembrane transport; locomotion; negative regulation of heart contraction; transmembrane transport; reduction of cytosolic calcium ion concentration; regulation of smooth muscle contraction; sodium ion transport; potassium ion transport; ATP biosynthetic process; regulation of respiratory gaseous exchange by neurological system process; regulation of the force of heart contraction; neurotransmitter uptake; regulation of striated muscle contraction | 1q23.2 |
| ATP1A4 | transmembrane transport; ion transmembrane transport; regulation of cellular pH; sperm motility; ATP hydrolysis coupled proton transport; sodium ion transport; potassium ion transport; ATP biosynthetic process | 1q23.2 |
| ATP1B1 | response to hypoxia; ATP biosynthetic process; transport; potassium ion transport; sodium ion transport; leukocyte migration; ion transmembrane transport; blood coagulation; transmembrane transport | 1q24 |
| ATP1B1P1 | - | 4p13 |
| ATP1B2 | transmembrane transport; leukocyte migration; ATP metabolic process; ion transmembrane transport; blood coagulation; sodium ion transport; potassium ion transport; transport | 17p13.1 |
| ATP1B3 | transport; potassium ion transport; sodium ion transport; blood coagulation; ion transmembrane transport; ATP metabolic process; leukocyte migration; transmembrane transport | 3q23 |
| ATP1B3P1 | - | 2p16.1 |
| ATP1B4 | regulation of transcription, DNA-dependent; transport; potassium ion transport; sodium ion transport; monovalent inorganic cation transport; ATP metabolic process | Xq24 |
| ATP2A1 | blood coagulation; reduction of endoplasmic reticulum calcium ion concentration; elevation of endoplasmic reticulum calcium ion concentration; positive regulation of fast-twitch skeletal muscle fiber contraction; apoptotic mitochondrial changes; ATP catabolic process; ATP biosynthetic process; cation transport; calcium ion transport; regulation of striated muscle contraction; ion transmembrane transport; response to endoplasmic reticulum stress; negative regulation of striated muscle contraction; elevation of mitochondrial calcium ion concentration; maintenance of mitochondrion location; transmembrane transport; apoptosis in response to endoplasmic reticulum stress; calcium ion import; relaxation of skeletal muscle | 16p12.1 |
| ATP2A1-AS1 | - | 16p11.2 |
| ATP2A2 | ATP biosynthetic process; ion transmembrane transport; transport; cation transport; cell adhesion; blood coagulation; epidermis development; transmembrane transport; sarcoplasmic reticulum calcium ion transport | 12q24.11 |
| ATP2A3 | transport; transmembrane transport; ion transmembrane transport; blood coagulation; calcium ion transport; cation transport; ATP biosynthetic process | 17p13.3 |
| ATP2B1 | calcium ion transmembrane transport; transmembrane transport; ion transmembrane transport; blood coagulation; cation transport; transport; ATP biosynthetic process | 12q21.3 |
| ATP2B2 | blood coagulation; cation transport; calcium ion transport; organelle organization; brain development; lactation; cell morphogenesis; sensory perception of sound; locomotory behavior; regulation of cell size; cerebellum development; cerebellar Purkinje cell layer morphogenesis; cerebellar Purkinje cell differentiation; cerebellar granule cell differentiation; neuron differentiation; ion transmembrane transport; locomotion; serotonin metabolic process; inner ear morphogenesis; ATP biosynthetic process; cochlea development; calcium ion transmembrane transport; inner ear receptor cell differentiation; auditory receptor cell stereocilium organization; transmembrane transport; positive regulation of calcium ion transport; cytosolic calcium ion homeostasis; detection of mechanical stimulus involved in sensory perception of sound; neuromuscular process controlling balance; synapse organization; regulation of synaptic plasticity; cGMP metabolic process; otolith mineralization; neural retina development; ATP catabolic | 3p25.3 |
| ATP2B2-IT2 | - | - |
| ATP2B3 | transport; ATP biosynthetic process; cation transport; blood coagulation; ion transmembrane transport; transmembrane transport; calcium ion transmembrane transport | Xq28 |
| ATP2B4 | neural retina development; ATP biosynthetic process; transport; cation transport; blood coagulation; ion transmembrane transport; transmembrane transport; calcium ion transmembrane transport | 1q32.1 |
| ATP2C1 | signal transduction; Golgi calcium ion transport; ion transmembrane transport; positive regulation of I-kappaB kinase/NF-kappaB cascade; transmembrane transport; Golgi calcium ion homeostasis; manganese ion transport; calcium ion transport; cation transport; ATP biosynthetic process; cellular calcium ion homeostasis; epidermis development; calcium-dependent cell-cell adhesion; cellular manganese ion homeostasis; actin cytoskeleton reorganization | 3q22.1 |
| ATP2C2 | cation transport; transmembrane transport; ion transmembrane transport; calcium ion transport; ATP biosynthetic process | 16q24.1 |
| ATP4A | ATP catabolic process; ATP biosynthetic process; transport; potassium ion transport; regulation of proton transport; ATP hydrolysis coupled proton transport; ion transmembrane transport; response to drug; pH reduction; transmembrane transport | 19q13.1 |
| ATP4B | potassium ion transport; sodium ion transport; response to organic nitrogen; proton transport; response to lipopolysaccharide; ion transmembrane transport; ATP metabolic process; transmembrane transport | 13q34 |
| ATP5A1 | negative regulation of endothelial cell proliferation; ADP biosynthetic process; ATP catabolic process; lipid metabolic process; ATP biosynthetic process; embryo development; ATP hydrolysis coupled proton transport; proton transport; respiratory electron transport chain; ion transmembrane transport; mitochondrial ATP synthesis coupled proton transport; small molecule metabolic process | 18q21 |
| ATP5A1P2 | - | 2q24.1 |
| ATP5A1P3 | - | 16q22.2 |
| ATP5B | generation of precursor metabolites and energy; angiogenesis; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; proton transport; ATP hydrolysis coupled proton transport; regulation of intracellular pH; negative regulation of cell adhesion involved in substrate-bound cell migration; receptor-mediated endocytosis; ion transport; transport; ATP biosynthetic process; lipid metabolic process; ATP catabolic process; ADP biosynthetic process | 12q13.13 |
| ATP5BP1 | - | 2q11.2 |
| ATP5C1 | oxidative phosphorylation; ATP catabolic process; ATP biosynthetic process; ion transport; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; proton transport | 10p15.1 |
| ATP5C1P1 | - | 14q22.2 |
| ATP5D | mitochondrial ATP synthesis coupled proton transport; small molecule metabolic process; respiratory electron transport chain; oxidative phosphorylation; ADP biosynthetic process; ATP catabolic process; ATP biosynthetic process; ion transport; proton transport; response to copper ion | 19p13.3 |
| ATP5E | ATP catabolic process; ion transport; proton transport; respiratory electron transport chain; mitochondrial ATP synthesis coupled proton transport; small molecule metabolic process | 20q13.32 |
| ATP5EP2 | proton transport; ion transport; ATP synthesis coupled proton transport | 13q12 |
| ATP5F1 | ATP catabolic process; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; ATP synthesis coupled proton transport; ion transport | 1p13.2 |
| ATP5F1P5 | - | 11q24.1 |
| ATP5F1P6 | - | 6q24.1 |
| ATP5F1P7 | - | 16q23.1 |
| ATP5G1 | respiratory electron transport chain; transport; ion transport; ATP hydrolysis coupled proton transport; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport | 17q21.32 |
| ATP5G1P1 | - | 14q32.33 |
| ATP5G1P4 | - | 3q26.31 |
| ATP5G1P5 | - | 13q33.3 |
| ATP5G1P6 | - | 18q21.3 |
| ATP5G1P7 | - | 10q22.1 |
| ATP5G1P8 | - | 10q22.3 |
| ATP5G2 | transport; ion transport; ATP synthesis coupled proton transport; ATP hydrolysis coupled proton transport | 12q13.13 |
| ATP5G2P1 | - | 1q32.2 |
| ATP5G2P3 | - | 2q33.1 |
| ATP5G2P4 | - | Xp11.4 |
| ATP5G3 | ATP hydrolysis coupled proton transport; response to ethanol; ATP synthesis coupled proton transport; aging; ion transport; transport | 2q31.1 |
| ATP5H | ion transport; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; ATP catabolic process | 17q25 |
| ATP5HP1 | - | 15q15.2 |
| ATP5I | ATP catabolic process; ion transport; respiratory electron transport chain; mitochondrial ATP synthesis coupled proton transport; small molecule metabolic process | 4p16.3 |
| ATP5J | ATP catabolic process; transport; ion transport; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; small molecule metabolic process | 21q21.1 |
| ATP5J2 | ATP biosynthetic process; proton transport; ion transport; small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; ATP catabolic process; respiratory electron transport chain | 7q22.1 |
| ATP5J2LP | - | 21q22.13 |
| ATP5J2P3 | - | 9q21.2 |
| ATP5JP1 | - | Yp11.2 |
| ATP5L | small molecule metabolic process; mitochondrial ATP synthesis coupled proton transport; respiratory electron transport chain; ion transport; ATP catabolic process | 11q23.3 |
| ATP5L2 | ATP synthesis coupled proton transport; ion transport | 22q13.2 |
| ATP5LP1 | - | 11q13.1 |
| ATP5LP2 | - | 6q22.31 |
| ATP5LP6 | - | - |
| ATP5O | ATP catabolic process; ATP biosynthetic process; ion transport; proton transport; respiratory electron transport chain; mitochondrial ATP synthesis coupled proton transport; small molecule metabolic process; transmembrane transport | 21q22.11 |
| ATP5S | proton transport; ATP biosynthetic process; ion transport | 14q21.3 |
| ATP5SL | - | 19q13.2 |
| ATP6 | - | - |
| ATP6AP1 | ion transport; proton transport; ATP hydrolysis coupled proton transport; cell death; aging | Xq28 |
| ATP6AP1L | ATP hydrolysis coupled proton transport | 5q14.2 |
| ATP6AP2 | angiotensin maturation; positive regulation of transforming growth factor beta1 production; regulation of MAPK cascade | Xp11.4 |
| ATP6V0A1 | ion transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; transmembrane transport; transferrin transport | 17q21 |
| ATP6V0A2 | transmembrane transport; transferrin transport; insulin receptor signaling pathway; immune response; cellular iron ion homeostasis; ion transport; ATP hydrolysis coupled proton transport | 12q24.31 |
| ATP6V0A4 | insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; transferrin transport; transmembrane transport; sensory perception of sound; excretion; regulation of pH; cellular iron ion homeostasis; ion transport; ossification | 7q34 |
| ATP6V0B | ion transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; transferrin transport; transmembrane transport | 1p32.3 |
| ATP6V0C | ATP hydrolysis coupled proton transport; transmembrane transport; interspecies interaction between organisms; transferrin transport; proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; ion transport | 16p13.3 |
| ATP6V0D1 | proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; brain development; activation of signaling protein activity involved in unfolded protein response; cellular iron ion homeostasis; ATP catabolic process; transmembrane transport; ion transmembrane transport; transferrin transport; endoplasmic reticulum unfolded protein response | 16q22.1 |
| ATP6V0D2 | ion transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; transferrin transport; transmembrane transport | - |
| ATP6V0E1 | cellular iron ion homeostasis; ion transport; transport; insulin receptor signaling pathway; transmembrane transport; transferrin transport; cell growth; proton transport; ATP hydrolysis coupled proton transport; vacuolar acidification | 5q35.1 |
| ATP6V0E2 | cellular iron ion homeostasis; vacuolar acidification; transmembrane transport; transferrin transport; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; cell growth; ion transport | 7q36.1 |
| ATP6V0E2-AS1 | - | 7q36.1 |
| ATP6V1A | insulin receptor signaling pathway; ATP metabolic process; transmembrane transport; transferrin transport; transport; ion transport; cellular iron ion homeostasis; ATP hydrolysis coupled proton transport; proton transport | 3q13.31 |
| ATP6V1B1 | transmembrane transport; calcium ion homeostasis; ATP metabolic process; insulin receptor signaling pathway; pH reduction; inner ear morphogenesis; ion transmembrane transport; transferrin transport; sensory perception of sound; excretion; regulation of pH; cellular iron ion homeostasis; ossification; proton transport; ATP hydrolysis coupled proton transport | 2p13.1 |
| ATP6V1B2 | transmembrane transport; ATP metabolic process; transferrin transport; proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; ion transport | 8p21.3 |
| ATP6V1C1 | insulin receptor signaling pathway; transmembrane transport; ion transmembrane transport; ATP catabolic process; transport; cellular iron ion homeostasis; ATP hydrolysis coupled proton transport; proton transport; transferrin transport | 8q22.3 |
| ATP6V1C2 | ATP catabolic process; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; transferrin transport; ion transmembrane transport; transmembrane transport | - |
| ATP6V1D | transmembrane transport; proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; ion transport; transferrin transport | 14q23-q24.2 |
| ATP6V1E1 | ion transport; transferrin transport; proton transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; transmembrane transport | 22q11.1 |
| ATP6V1E1P1 | - | 1p34.2 |
| ATP6V1E2 | transferrin transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; ion transport; transmembrane transport | 2p21 |
| ATP6V1F | transferrin transport; transmembrane transport; ion transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport | 7q32 |
| ATP6V1G1 | transmembrane transport; ion transmembrane transport; proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis; transferrin transport | 9q32 |
| ATP6V1G2 | cellular iron ion homeostasis; transmembrane transport; transferrin transport; proton transport; insulin receptor signaling pathway; ion transport | 6p21.3 |
| ATP6V1G3 | ATP catabolic process; cellular iron ion homeostasis; insulin receptor signaling pathway; proton transport; transferrin transport; transmembrane transport; ion transmembrane transport | 1q31.3 |
| ATP6V1H | ATP catabolic process; ion transport; cellular iron ion homeostasis; endocytosis; vacuolar acidification; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport; proton transport; transmembrane transport; regulation of catalytic activity; viral reproduction; regulation of defense response to virus by virus; transferrin transport; interspecies interaction between organisms | 8q11.2 |
| ATP7A | T-helper cell differentiation; epinephrine metabolic process; norepinephrine metabolic process; peptidyl-lysine modification; dopamine metabolic process; hindlimb morphogenesis; ion transmembrane transport; hair follicle morphogenesis; collagen fibril organization; extracellular matrix organization; metal ion transport; central nervous system neuron development; pyramidal neuron development; cerebellar Purkinje cell differentiation; removal of superoxide radicals; elastin biosynthetic process; norepinephrine biosynthetic process; serotonin metabolic process; positive regulation of catalytic activity; pigmentation; neuroprotection; skin development; ATP metabolic process; elastic fiber assembly; lung alveolus development; negative regulation of metalloenzyme activity; positive regulation of metalloenzyme activity; neuron projection morphogenesis; dendrite morphogenesis; cartilage development; positive regulation of oxidoreductase activity; regulation of gene expression; copper ion export; transmembrane transpo | Xq21.1 |
| ATP7B | ATP catabolic process; ATP biosynthetic process; copper ion transport; cellular copper ion homeostasis; cellular zinc ion homeostasis; lactation; copper ion import; intracellular copper ion transport; metal ion transport; ion transmembrane transport; response to copper ion; sequestering of calcium ion; transmembrane transport; copper ion export | 13q14.3 |
| ATP8A1 | ion transmembrane transport; cation transport; aminophospholipid transport; phospholipid translocation; transmembrane transport | 4p13 |
| ATP8A2 | phospholipid transport; negative regulation of cell proliferation; cation transport | 13q12 |
| ATP8A2P1 | - | - |
| ATP8A2P3 | - | - |
| ATP8B1 | transmembrane transport; ATP catabolic process; cation transport; bile acid metabolic process; bile acid and bile salt transport; ion transmembrane transport; phospholipid translocation; negative regulation of transcription, DNA-dependent | 18q21.31 |
| ATP8B2 | transmembrane transport; ATP catabolic process; cation transport; phospholipid transport; ion transmembrane transport | 1q21.3 |
| ATP8B3 | cation transport; binding of sperm to zona pellucida; phospholipid transport; phospholipid translocation; ATP catabolic process | 19p13.3 |
| ATP8B4 | phospholipid transport; cation transport | 15q21.2 |
| ATP8B5P | - | 9p13.3 |
| ATP9A | phospholipid translocation; cation transport | 20q13.2 |
| ATP9B | establishment of protein localization in Golgi; cation transport; aminophospholipid transport; phospholipid translocation | 18q23 |
| ATPAF1 | protein complex assembly | 1p33-p32.3 |
| ATPAF2 | proton-transporting ATP synthase complex assembly | 17p11.2 |
| ATPIF1 | negative regulation of catalytic activity; regulation of apoptotic process; generation of precursor metabolites and energy; negative regulation of endothelial cell proliferation; angiogenesis; negative regulation of nucleotide metabolic process; protein homooligomerization; protein homotetramerization; negative regulation of hydrolase activity; reactive oxygen species metabolic process | 1p35.3 |
| ATR | cell cycle checkpoint; regulation of protein binding; positive regulation of DNA damage response, signal transduction by p53 class mediator; protein autophosphorylation; replicative senescence; cellular response to UV; cellular response to gamma radiation; DNA damage checkpoint; peptidyl-serine phosphorylation; negative regulation of DNA replication; multicellular organismal development; cell cycle; response to DNA damage stimulus; protein phosphorylation; DNA repair; DNA replication | 3q23 |
| ATRAID | - | 2p23.3 |
| ATRIP | DNA repair; DNA replication; DNA damage checkpoint; cell cycle checkpoint | 3p21.31 |
| ATRN | pigmentation; inflammatory response; response to oxidative stress; regulation of multicellular organism growth | 20p13 |
| ATRNL1 | G-protein coupled receptor signaling pathway | 10q26 |
| ATRX | DNA duplex unwinding; forebrain development; regulation of transcription, DNA-dependent; DNA recombination; DNA methylation; DNA repair | Xq21.1 |
| ATXN1 | adult locomotory behavior; regulation of excitatory postsynaptic membrane potential; nuclear export; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative regulation of insulin-like growth factor receptor signaling pathway; negative regulation of phosphorylation; visual learning; cell death; RNA processing | 6p23 |
| ATXN10 | neuron projection development; cell death; nervous system development | 22q13.31 |
| ATXN1L | regulation of transcription, DNA-dependent | 16q22.2 |
| ATXN2 | homeostasis of number of cells; RNA transport; neuromuscular process; neuron projection morphogenesis; negative regulation of multicellular organism growth; stress granule assembly; cerebellar Purkinje cell differentiation; RNA metabolic process; regulation of translation; cell death; cytoplasmic mRNA processing body assembly | 12q24.1 |
| ATXN2L | - | 16p11 |
| ATXN3 | synaptic transmission; intermediate filament cytoskeleton organization; actin cytoskeleton organization; regulation of cell-substrate adhesion; cell death; nervous system development; proteolysis; regulation of transcription, DNA-dependent; nucleotide-excision repair; microtubule cytoskeleton organization | 14q21 |
| ATXN3L | regulation of transcription, DNA-dependent; proteolysis; protein deubiquitination | Xp22.2 |
| ATXN7 | regulation of transcription, DNA-dependent; nucleus organization; visual perception; cell death; histone deubiquitination; negative regulation of phosphorylation; negative regulation of insulin-like growth factor receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter | 3p21.1-p12 |
| ATXN7L1 | - | 7q22.3 |
| ATXN7L2 | - | 1p13.3 |
| ATXN7L3 | histone deubiquitination; chromatin modification; positive regulation of transcription, DNA-dependent | 17q21.31 |
| ATXN7L3B | - | 12q21 |
| AUH | mRNA catabolic process; branched chain family amino acid catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 9q22.31 |
| AUNIP | - | 1p36.11 |
| AUP1 | - | 2p13 |
| AURKA | phosphatidylinositol-mediated signaling; protein autophosphorylation; regulation of centrosome cycle; positive regulation of mitosis; response to estradiol stimulus; regulation of protein stability; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell projection organization; mitosis; spindle organization; cell cycle; protein phosphorylation; mitotic cell cycle; cell division | 20q13 |
| AURKAIP1 | positive regulation of proteolysis; negative regulation of mitosis | 1p36.33 |
| AURKAPS1 | - | 1q41 |
| AURKB | positive regulation of cell cycle cytokinesis; M phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; mitotic prometaphase; mitotic cell cycle; cytokinesis; negative regulation of B cell apoptosis; aging; cell proliferation; attachment of spindle microtubules to kinetochore; histone modification; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; protein localization to kinetochore; cellular response to UV; protein autophosphorylation; spindle midzone assembly involved in mitosis; regulation of chromosome segregation | 17p13.1 |
| AURKC | cell cycle; positive regulation of cell cycle cytokinesis; spindle midzone assembly involved in mitosis; histone modification; attachment of spindle microtubules to kinetochore; meiosis; cytokinesis; protein phosphorylation; mitosis | 19q13.43 |
| AUTS2 | - | 7q11.22 |
| AVEN | anti-apoptosis; apoptotic process | 15q13.1 |
| AVIL | response to stress; cytoskeleton organization; nervous system development; positive regulation of neuron projection development; actin filament capping; cilium morphogenesis | 12q14.1 |
| AVL9 | - | 7p14.3 |
| AVPI1 | activation of MAPK activity; cell cycle | 10q24.2 |
| AVPR1A | G-protein coupled receptor signaling pathway; response to stress; positive regulation of vasoconstriction; generation of precursor metabolites and energy; calcium-mediated signaling; penile erection; sperm ejaculation; maternal behavior; cellular response to water deprivation; positive regulation of renal sodium excretion; social behavior; positive regulation of cellular pH reduction; positive regulation of prostaglandin biosynthetic process; positive regulation of cell growth; telencephalon development; activation of phospholipase C activity; myotube differentiation; positive regulation of glutamate secretion; positive regulation of heart rate; response to inorganic substance; response to organic substance; positive regulation of cell proliferation; blood circulation; grooming behavior; negative regulation of female receptivity; elevation of cytosolic calcium ion concentration; maternal aggressive behavior; regulation of systemic arterial blood pressure by vasopressin; response to corticosterone stimulus; ne | 12q14-q15 |
| AVPR2 | positive regulation of systemic arterial blood pressure; water transport; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of adenylate cyclase activity; I-kappaB kinase/NF-kappaB cascade; excretion; hemostasis; positive regulation of cell proliferation; positive regulation of gene expression; telencephalon development; response to cytokine stimulus; negative regulation of urine volume; negative regulation of renal sodium excretion; transmembrane transport; interferon-gamma production | Xq28 |
| AWAT1 | lipid biosynthetic process | Xq13.1 |
| AWAT2 | wax biosynthetic process; lipid biosynthetic process | Xq13.1 |
| AXDND1 | - | 1q25.2 |
| AXIN1 | cytoplasmic microtubule organization; protein polyubiquitination; in utero embryonic development; optic placode formation; positive regulation of protein phosphorylation; nucleocytoplasmic transport; apoptotic process; signal transduction; activation of JUN kinase activity; erythrocyte homeostasis; positive regulation of peptidyl-serine phosphorylation; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; activation of protein kinase activity; positive regulation of protein ubiquitination; cell death; olfactory placode formation; positive regulation of transforming growth factor beta receptor signaling pathway; multicellular organismal development; determination of left/right symmetry; negative regulation of Wnt receptor signaling pathway; sensory perception of sound; positive regulation of protein catabolic process; Wnt receptor signaling pathway involved in forebrain neuron fate commitment; forebrain anterior/posterior pattern specification; hemoglobin metabolic process; positiv | 16p13.3 |
| AXIN2 | Wnt receptor signaling pathway involved in somitogenesis; positive regulation of protein kinase activity; negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification; mRNA stabilization; regulation of chondrocyte development; regulation of centromeric sister chromatid cohesion; cellular response to organic cyclic compound; negative regulation of canonical Wnt receptor signaling pathway; regulation of Wnt receptor signaling pathway; chondrocyte differentiation involved in endochondral bone morphogenesis; intramembranous ossification; positive regulation of protein phosphorylation; multicellular organismal development; negative regulation of cell proliferation; dorsal/ventral axis specification; positive regulation of epithelial to mesenchymal transition; positive regulation of cell death; bone mineralization; regulation of mismatch repair; cellular protein localization; negative regulation of catenin import into nucleus; termination of G-protein coupled receptor signalin | 17q23-q24 |
| AXL | protein kinase B signaling cascade; apoptotic cell clearance; ovulation cycle; substrate adhesion-dependent cell spreading; erythrocyte homeostasis; secretion by cell; negative regulation of tumor necrosis factor production; cellular response to extracellular stimulus; platelet activation; cell differentiation; forebrain cell migration; spermatogenesis; enzyme linked receptor protein signaling pathway; signal transduction; inflammatory response; blood vessel remodeling; natural killer cell differentiation; neuron migration; innate immune response; negative regulation of lymphocyte activation; vagina development; negative regulation of neuron apoptosis | 19q13.1 |
| AZGP1 | immune response; cell adhesion; negative regulation of cell proliferation; lipid catabolic process; antigen processing and presentation | 7q22.1 |
| AZGP1P1 | - | 7q22.1 |
| AZGP1P2 | - | 7q22.1 |
| AZI2 | I-kappaB kinase/NF-kappaB cascade | 3p24.1 |
| AZIN1 | polyamine biosynthetic process; small molecule metabolic process; negative regulation of catalytic activity; positive regulation of catalytic activity; cellular nitrogen compound metabolic process; regulation of cellular amino acid metabolic process | 8q22.3 |
| AZIN2 | small molecule metabolic process; ornithine metabolic process; polyamine metabolic process; polyamine biosynthetic process; spermatogenesis; agmatine biosynthetic process; cellular nitrogen compound metabolic process; positive regulation of catalytic activity | 1p35.1 |
| AZU1 | macrophage chemotaxis; positive regulation of cell adhesion; positive regulation of MHC class II biosynthetic process; cellular extravasation; regulation of vascular permeability; positive regulation of tumor necrosis factor biosynthetic process; monocyte activation; glial cell migration; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; inflammatory response; chemotaxis; anti-apoptosis; proteolysis; microglial cell activation; positive regulation of fractalkine biosynthetic process; positive regulation of phagocytosis; defense response to Gram-negative bacterium; induction of positive chemotaxis; positive regulation of interleukin-1 beta biosynthetic process | 19p13.3 |
| B2M | antigen processing and presentation of exogenous peptide antigen via MHC class I; interferon-gamma-mediated signaling pathway; regulation of immune response; regulation of defense response to virus by virus; cytokine-mediated signaling pathway; viral reproduction; immune response; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I | 15q21-q22.2 |
| B3GALNT1 | oligosaccharide biosynthetic process; protein glycosylation | 3q25 |
| B3GALNT2 | protein glycosylation | 1q42.3 |
| B3GALT1 | protein glycosylation; oligosaccharide biosynthetic process; lipid glycosylation | 2q24.3 |
| B3GALT2 | oligosaccharide biosynthetic process; protein glycosylation | 1q31 |
| B3GALT4 | protein glycosylation | 6p21.3 |
| B3GALT5 | protein glycosylation | 21q22.3 |
| B3GALT5-AS1 | - | 21q22.2 |
| B3GALT6 | protein glycosylation; glycosaminoglycan biosynthetic process | 1p36.33 |
| B3GAT1 | metabolic process; carbohydrate metabolic process | 11q25 |
| B3GAT2 | - | 6q13 |
| B3GAT3 | glycosaminoglycan biosynthetic process | 11q12.3 |
| B3GLCT | fucose metabolic process; carbohydrate metabolic process | 13q12.3 |
| B3GNT2 | protein glycosylation; axon guidance; sensory perception of smell; O-glycan processing; post-translational protein modification; cellular protein metabolic process | 2p15 |
| B3GNT3 | post-translational protein modification; protein glycosylation; cellular protein metabolic process; O-glycan processing | 19p13.1 |
| B3GNT4 | O-glycan processing; post-translational protein modification; cellular protein metabolic process; protein glycosylation | 12q24 |
| B3GNT5 | glycolipid biosynthetic process; post-translational protein modification; protein glycosylation; multicellular organismal development; central nervous system development; O-glycan processing; cellular protein metabolic process; metabolic process | 3q28 |
| B3GNT6 | glycoprotein biosynthetic process; cellular protein metabolic process; post-translational protein modification; O-glycan processing, core 3; protein glycosylation; O-glycan processing | 11q13.4 |
| B3GNT7 | O-glycan processing; post-translational protein modification; cellular protein metabolic process; protein glycosylation | 2q37.1 |
| B3GNT8 | post-translational protein modification; cellular protein metabolic process; protein glycosylation; O-glycan processing; poly-N-acetyllactosamine biosynthetic process | 19q13.2 |
| B3GNT9 | protein glycosylation | 16q22.1 |
| B3GNTL1 | - | 17q25.3 |
| B4GALNT1 | lipid glycosylation; ganglioside biosynthetic process; carbohydrate metabolic process; glycosphingolipid metabolic process; spermatogenesis; lipid storage | 12q13.3 |
| B4GALNT2 | UDP-N-acetylglucosamine metabolic process; protein glycosylation; UDP-N-acetylgalactosamine metabolic process; negative regulation of cell-cell adhesion; lipid glycosylation | 17q21.32 |
| B4GALNT3 | - | 12p13.33 |
| B4GALNT4 | - | 11p15.5 |
| B4GALT1 | post-translational protein modification; development of secondary sexual characteristics; mammary gland development; extracellular matrix organization; protein N-linked glycosylation via asparagine; oligosaccharide biosynthetic process; negative regulation of cell proliferation; penetration of zona pellucida; binding of sperm to zona pellucida; cell adhesion; protein glycosylation; galactose metabolic process; lactose biosynthetic process; carbohydrate metabolic process; acute inflammatory response; epithelial cell development; branching morphogenesis of a tube; leukocyte migration; regulation of cellular component movement; regulation of acrosome reaction; positive regulation of epithelial cell proliferation involved in wound healing; angiogenesis involved in wound healing; positive regulation of apoptosis involved in mammary gland involution; cellular protein metabolic process | 9p13 |
| B4GALT1-AS1 | - | - |
| B4GALT2 | cellular protein metabolic process; post-translational protein modification; carbohydrate metabolic process; protein N-linked glycosylation via asparagine | 1p34-p33 |
| B4GALT3 | carbohydrate metabolic process; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 1q21-q23 |
| B4GALT4 | protein N-linked glycosylation via asparagine; carbohydrate metabolic process; cellular protein metabolic process; post-translational protein modification; membrane lipid metabolic process | 3q13.3 |
| B4GALT4-AS1 | - | - |
| B4GALT5 | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; O-glycan processing; carbohydrate metabolic process | 20q13.1-q13.2 |
| B4GALT6 | cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine; carbohydrate metabolic process | 18q11 |
| B4GALT7 | negative regulation of fibroblast proliferation; carbohydrate metabolic process; fibril organization; glycosaminoglycan biosynthetic process; protein modification process; proteoglycan metabolic process | 5q35.2-q35.3 |
| B9D1 | smoothened signaling pathway; cell projection organization; cilium assembly; cilium morphogenesis | 17p11.2 |
| B9D2 | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; cell projection organization; cilium assembly | 19q13.2 |
| BAALC | - | 8q22.3 |
| BAALC-AS1 | - | 8q22.3 |
| BAALC-AS2 | - | 8q22.3 |
| BAAT | liver development; bile acid conjugation; glycine metabolic process; lipid metabolic process; fatty acid metabolic process; acyl-CoA metabolic process; bile acid biosynthetic process; bile acid metabolic process; taurine metabolic process; organ regeneration; small molecule metabolic process; bile acid and bile salt transport | 9q22.3 |
| BAATP1 | - | 9q31.1 |
| BABAM1 | response to ionizing radiation; chromatin modification; G2/M transition DNA damage checkpoint; positive regulation of DNA repair; protein K63-linked deubiquitination; double-strand break repair | 19p13.11 |
| BACE1 | proteolysis; membrane protein ectodomain proteolysis; beta-amyloid metabolic process | 11q23.2-q23.3 |
| BACE1-AS | - | 11q23.3 |
| BACE2 | negative regulation of amyloid precursor protein biosynthetic process; peptide hormone processing; membrane protein ectodomain proteolysis; proteolysis | 21q22.3 |
| BACH1 | regulation of transcription involved in G1/S phase of mitotic cell cycle; regulation of transcription involved in G2/M-phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter in response to hypoxia | 21q22.11 |
| BACH1-IT2 | - | - |
| BACH1-IT3 | - | 21q22.11 |
| BACH2 | - | 6q15 |
| BAD | glucose homeostasis; positive regulation of insulin secretion involved in cellular response to glucose stimulus; positive regulation of glucokinase activity; positive regulation of insulin secretion; cytokine-mediated signaling pathway; positive regulation of mitochondrial membrane potential; activation of pro-apoptotic gene products; induction of apoptosis by intracellular signals; induction of apoptosis by extracellular signals; fibroblast growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; apoptotic process; glucose catabolic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of type B pancreatic cell development; positive regulation of release of cytochrome c from mitochondria; cellular response to hypoxia; cellular response to lipid; cellular response to nicotine; cellular response to mechan | 11q13.1 |
| BAG1 | anti-apoptosis; response to stress; cell surface receptor signaling pathway; response to lithium ion; response to nicotine; response to drug; positive regulation of neuron apoptosis; positive regulation of transcription from RNA polymerase II promoter; chaperone cofactor-dependent protein refolding; neuron differentiation | 9p12 |
| BAG2 | protein folding; protein metabolic process | 6p12.1-p11.2 |
| BAG3 | brain development; spinal cord development; protein folding; anti-apoptosis | 10q25.2-q26.2 |
| BAG4 | cellular response to tumor necrosis factor; protein folding; anti-apoptosis | 8p11.23 |
| BAG5 | neuron death; negative regulation of protein refolding; negative regulation of ubiquitin-protein ligase activity; negative regulation of protein ubiquitination; protein folding; regulation of inclusion body assembly | 14q32.33 |
| BAG6 | lung development; synaptonemal complex assembly; transport; ubiquitin-dependent protein catabolic process; kidney development; spermatogenesis; brain development; embryo development; chromatin modification; internal peptidyl-lysine acetylation; cell differentiation; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; regulation of cell proliferation; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; negative regulation of proteolysis; protein stabilization; apoptosis in response to endoplasmic reticulum stress; tail-anchored membrane protein insertion into ER membrane | 6p21.3 |
| BAGE | - | 21p11.1 |
| BAGE2 | - | 21p |
| BAHCC1 | - | 17q25.3 |
| BAHD1 | negative regulation of transcription, DNA-dependent; heterochromatin assembly; chromatin modification | 15q15.1 |
| BAIAP2 | response to bacterium; filopodium assembly; signal transduction; axonogenesis; insulin receptor signaling pathway; regulation of actin cytoskeleton organization | 17q25 |
| BAIAP2-AS1 | - | 17q25.3 |
| BAIAP2L1 | positive regulation of actin filament polymerization; filopodium assembly; response to bacterium; signal transduction; positive regulation of actin cytoskeleton reorganization | 7q22.1 |
| BAIAP2L2 | filopodium assembly; signal transduction; cellular membrane organization | 22q13.1 |
| BAIAP3 | neurotransmitter secretion; G-protein coupled receptor signaling pathway | 16p13.3 |
| BAK1 | B cell apoptosis; vagina development; release of cytochrome c from mitochondria; blood vessel remodeling; myeloid cell homeostasis; B cell negative selection; apoptotic process; brain development; aging; mitochondrial fusion; negative regulation of cell proliferation; induction of apoptosis by extracellular signals; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; response to fungus; response to mycotoxin; limb morphogenesis; regulation of mitochondrial membrane potential; regulation of cell cycle; post-embryonic camera-type eye morphogenesis; regulation of mitochondrial membrane permeability; response to ethanol; regulation of protein heterodimerization activity; regulation of protein homodimerization activity; positive regulation of apoptotic process; response to hydrogen peroxide; response to drug; response to UV-C; cellular response to UV; negative regulation of pept | 6p21.3 |
| BAK1P1 | - | 20q11.21 |
| BAMBI | cell migration; negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of protein binding; positive regulation of catenin import into nucleus; positive regulation of cell proliferation; regulation of cell shape; positive regulation of epithelial to mesenchymal transition; positive regulation of transcription, DNA-dependent; positive regulation of canonical Wnt receptor signaling pathway | 10p12.3-p11.2 |
| BANCR | - | - |
| BANF1 | response to virus; viral reproduction; provirus integration; initiation of viral infection; interspecies interaction between organisms | 11q13.1 |
| BANF1P2 | - | 10q26.3 |
| BANF1P3 | - | - |
| BANF1P4 | - | - |
| BANF1P5 | - | 7q22.3 |
| BANF2 | - | 20p12.1 |
| BANK1 | B cell activation | 4q24 |
| BANP | chromatin modification; regulation of transcription, DNA-dependent; multicellular organismal development; cell cycle | 16q24 |
| BAP1 | ubiquitin-dependent protein catabolic process; negative regulation of cell proliferation; protein K48-linked deubiquitination; regulation of cell cycle; monoubiquitinated histone H2A deubiquitination; protein deubiquitination; chromatin modification; regulation of cell growth; protein modification process; proteolysis | 3p21.31-p21.2 |
| BARD1 | protein K6-linked ubiquitination; negative regulation of protein export from nucleus; positive regulation of protein catabolic process; negative regulation of apoptotic process; positive regulation of apoptotic process; regulation of phosphorylation; negative regulation of mRNA 3'-end processing; protein ubiquitination; spermatogenesis; cell cycle arrest; response to DNA damage stimulus; DNA repair; tissue homeostasis | 2q34-q35 |
| BARHL1 | negative regulation of neuron apoptosis; neuron migration; midbrain development; sensory perception of sound | 9q34 |
| BARHL2 | nervous system development; positive regulation of translation; regulation of axon extension; neuron differentiation; regulation of transcription from RNA polymerase II promoter; neuron migration; cell fate determination | 1p22.2 |
| BARX1 | regulation of transcription, DNA-dependent; negative regulation of Wnt receptor signaling pathway; epithelial cell differentiation; organ development; spleen development; digestive system development; anterior/posterior pattern specification; cell-cell signaling; multicellular organismal development; tissue development | 9q12 |
| BARX2 | myotube differentiation; catagen; negative regulation of transcription from RNA polymerase II promoter; cartilage condensation; positive regulation of transcription from RNA polymerase II promoter | 11q25 |
| BASP1 | diaphragm development; positive regulation of heart growth; metanephric mesenchyme development; glomerular visceral epithelial cell differentiation; mesenchymal to epithelial transition; negative regulation of transcription, DNA-dependent; gonad development; positive regulation of metanephric ureteric bud development; thorax and anterior abdomen determination | 5p15.1 |
| BASP1P1 | - | 13q12.12 |
| BATF | regulation of transcription, DNA-dependent | 14q24.3 |
| BATF2 | - | 11q13.1 |
| BATF3 | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 1q32.3 |
| BAX | nuclear fragmentation involved in apoptotic nuclear change; cleavage of lamin; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; apoptotic process; DNA fragmentation involved in apoptotic nuclear change; release of cytochrome c from mitochondria; B cell apoptosis; positive regulation of protein oligomerization; negative regulation of protein binding; transformed cell apoptosis; establishment or maintenance of transmembrane electrochemical gradient; response to toxin; apoptotic mitochondrial changes; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; negative regulation of survival gene product expression; activation of pro-apoptotic gene products; induction of apoptosis by intracellular signals; induction of apoptosis by extracellular signals; mitochondrial fusion; positive regulation of apoptotic process; release of matrix enzymes from mitochondria; positive regulation of intrinsic apoptotic signaling pathw | 19q13.3-q13.4 |
| BAZ1A | regulation of transcription, DNA-dependent; transcription, DNA-dependent; chromatin remodeling; DNA-dependent DNA replication | 14q13.2 |
| BAZ1B | double-strand break repair; nucleosome disassembly; transcription, DNA-dependent; chromatin assembly or disassembly; heart morphogenesis; chromatin-mediated maintenance of transcription; regulation of transcription, DNA-dependent; response to DNA damage stimulus; histone phosphorylation; DNA replication-dependent nucleosome disassembly; regulation of gene expression, epigenetic; ATP-dependent chromatin remodeling | 7q11.23 |
| BAZ2A | transcription, DNA-dependent; regulation of transcription, DNA-dependent; chromatin remodeling; DNA methylation; chromatin silencing at rDNA; histone deacetylation | 12q13.3 |
| BAZ2B | regulation of transcription, DNA-dependent; transcription, DNA-dependent | 2q24.2 |
| BBC3 | release of cytochrome c from mitochondria; activation of cysteine-type endopeptidase activity involved in apoptotic process; determination of adult lifespan; induction of apoptosis; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; positive regulation of thymocyte apoptosis; positive regulation of protein homooligomerization; cellular response to hypoxia; protein insertion into mitochondrial membrane involved in induction of apoptosis; reduction of endoplasmic reticulum calcium ion concentration; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; negative regulation of growth; release of sequestered calcium ion into cytosol; apoptotic process; positive regulation of intrinsic apoptotic signaling pathway; positive regulation of release of cytochrome c from mitochondria | 19q13.3-q13.4 |
| BBIP1 | cilium assembly | 10q25.2 |
| BBOF1 | - | 14q24.3 |
| BBOX1 | cellular nitrogen compound metabolic process; small molecule metabolic process; carnitine biosynthetic process | 11p14.2 |
| BBS1 | response to stimulus; photoreceptor cell maintenance; Golgi to plasma membrane protein transport; nonmotile primary cilium assembly; retina homeostasis; cilium assembly | 11q13 |
| BBS10 | response to stimulus; chaperone-mediated protein complex assembly; nonmotile primary cilium assembly; photoreceptor cell maintenance; cellular protein metabolic process; retina homeostasis | 12q21.2 |
| BBS12 | cellular protein metabolic process; chaperone-mediated protein complex assembly | 4q27 |
| BBS2 | cilium morphogenesis; response to stimulus; brain morphogenesis; photoreceptor cell maintenance; fat cell differentiation; Golgi to plasma membrane protein transport; negative regulation of multicellular organism growth; protein localization to organelle; leptin-mediated signaling pathway; melanosome transport; negative regulation of appetite; adult behavior; cerebral cortex development; hippocampus development; striatum development; protein localization; sperm axoneme assembly; regulation of cilium beat frequency involved in ciliary motility | 16q21 |
| BBS4 | microtubule anchoring at centrosome; microtubule cytoskeleton organization; nonmotile primary cilium assembly; cilium assembly; fat cell differentiation; photoreceptor cell maintenance; positive regulation of flagellum assembly; retinal rod cell development; intracellular transport; brain morphogenesis; sensory processing; response to stimulus; centrosome organization; maintenance of protein location in nucleus; pigment granule aggregation in cell center; convergent extension involved in gastrulation; cilium morphogenesis; regulation of cilium beat frequency involved in ciliary motility; leptin-mediated signaling pathway; neural tube closure; retina homeostasis; heart looping; spermatid development; sensory perception of smell; dendrite development; regulation of lipid metabolic process; striatum development; cerebral cortex development; adult behavior; negative regulation of appetite; melanosome transport; regulation of cytokinesis; cell cycle cytokinesis; protein localization to organelle; hippocampus devel | 15q22.3-q23 |
| BBS5 | visual perception; flagellum assembly; melanosome transport; cilium assembly; heart looping; response to stimulus | 2q31.1 |
| BBS7 | digestive tract morphogenesis; cilium morphogenesis; pigment granule aggregation in cell center; response to stimulus; heart looping; determination of left/right symmetry; visual perception; melanosome transport; fat cell differentiation | 4q27 |
| BBS9 | visual perception; response to stimulus; fat cell differentiation | 7p14 |
| BBX | regulation of transcription, DNA-dependent | 3q13.1 |
| BCAM | cell adhesion; cell-matrix adhesion; signal transduction | 19q13.2 |
| BCAN | regulation of neuronal synaptic plasticity; hippocampus development; cell adhesion | 1q31 |
| BCAP29 | intracellular protein transport; apoptotic process; vesicle-mediated transport | 7q22.3 |
| BCAP31 | reduction of endoplasmic reticulum calcium ion concentration; intracellular protein transport; calcium-mediated signaling using intracellular calcium source; vesicle-mediated transport; elevation of cytosolic calcium ion concentration; immune response; cellular component disassembly involved in apoptosis; antigen processing and presentation of peptide antigen via MHC class I; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; elevation of mitochondrial calcium ion concentration; positive regulation of intrinsic apoptotic signaling pathway; apoptotic process | Xq28 |
| BCAR1 | integrin-mediated signaling pathway; G-protein coupled receptor signaling pathway; epidermal growth factor receptor signaling pathway; cell chemotaxis; cell division; B cell receptor signaling pathway; T cell receptor signaling pathway; antigen receptor-mediated signaling pathway; signal transduction; cell adhesion; hepatocyte growth factor receptor signaling pathway; actin filament organization; regulation of cell growth; nerve growth factor receptor signaling pathway; vascular endothelial growth factor receptor signaling pathway; platelet-derived growth factor receptor signaling pathway; regulation of apoptotic process; cellular response to hepatocyte growth factor stimulus; positive regulation of cell migration; platelet activation; cell migration; insulin receptor signaling pathway; cell proliferation; blood coagulation | 16q23.1 |
| BCAR3 | response to drug; signal transduction; small GTPase mediated signal transduction | 1p22.1 |
| BCAR4 | - | 16p13.13 |
| BCAS1 | - | 20q13.2 |
| BCAS2 | RNA splicing, via transesterification reactions; mRNA processing; RNA splicing | 1p13.2 |
| BCAS2P2 | - | - |
| BCAS2P3 | - | 13q31.1 |
| BCAS3 | - | 17q23 |
| BCAS4 | - | 20q13.13 |
| BCAT1 | branched chain family amino acid catabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; branched chain family amino acid biosynthetic process; cell proliferation; G1/S transition of mitotic cell cycle | 12p12.1 |
| BCAT2 | isoleucine catabolic process; valine metabolic process; lactation; branched chain family amino acid biosynthetic process; branched chain family amino acid catabolic process; leucine biosynthetic process; regulation of hormone levels; cellular nitrogen compound metabolic process; small molecule metabolic process | 19q13 |
| BCCIP | neuroendocrine cell differentiation; cell cycle; DNA repair; regulation of cyclin-dependent protein kinase activity | 10q26.1 |
| BCDIN3D | - | 12q13.12 |
| BCHE | synaptic transmission, cholinergic; response to folic acid; response to glucocorticoid stimulus; negative regulation of synaptic transmission; cocaine metabolic process; response to alkaloid; response to drug; choline metabolic process; metabolic process; learning; response to nutrient | 3q26.1-q26.2 |
| BCKDHA | branched chain family amino acid catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 19q13.1-q13.2 |
| BCKDHB | cellular nitrogen compound metabolic process; response to cAMP; response to glucocorticoid stimulus; branched chain family amino acid catabolic process; response to nutrient; small molecule metabolic process | 6q14.1 |
| BCKDK | phosphorylation; peptidyl-histidine phosphorylation; branched chain family amino acid catabolic process; cellular amino acid catabolic process | 16p11.2 |
| BCL10 | neural tube closure; toll-like receptor signaling pathway; response to molecule of bacterial origin; adaptive immune response; negative regulation of mature B cell apoptosis; apoptotic process; induction of apoptosis; cellular defense response; cell death; response to fungus; immunoglobulin mediated immune response; positive regulation of mast cell cytokine production; cellular response to mechanical stimulus; protein homooligomerization; positive regulation of protein ubiquitination; protein oligomerization; positive regulation of NF-kappaB transcription factor activity; positive regulation of T cell activation; regulation of T cell receptor signaling pathway; T cell receptor signaling pathway; positive regulation of transcription, DNA-dependent; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; positive regulation of phosphorylation; interleukin-6 biosynthetic process; response to chemical stimulus; lymphotoxin A biosynthetic process; positive | 1p22 |
| BCL11A | negative regulation of protein homooligomerization; negative regulation of gene expression; negative regulation of dendrite development; regulation of dendrite development; positive regulation of collateral sprouting; negative regulation of collateral sprouting; positive regulation of transcription from RNA polymerase II promoter; negative regulation of axon extension; B cell differentiation; T cell differentiation; hemopoiesis; protein sumoylation; negative regulation of neuron projection development; positive regulation of neuron projection development; regulation of transcription, DNA-dependent | 2p16.1 |
| BCL11B | negative regulation of apoptotic process; keratinocyte development; alpha-beta T cell differentiation; thymus development; positive regulation of transcription from RNA polymerase II promoter; epithelial cell morphogenesis; regulation of lipid metabolic process; regulation of keratinocyte proliferation; central nervous system neuron differentiation; post-embryonic camera-type eye development; striatal medium spiny neuron differentiation; T cell differentiation in thymus; T cell receptor V(D)J recombination; odontogenesis of dentin-containing tooth; regulation of transcription, DNA-dependent; positive T cell selection; skin development; negative regulation of cell proliferation; axonogenesis | 14q32.2 |
| BCL2 | response to L-ascorbic acid; metanephros development; ovarian follicle development; cell morphogenesis; protein polyubiquitination; G1/S transition of mitotic cell cycle; negative regulation of myeloid cell apoptosis; T cell differentiation in thymus; positive regulation of peptidyl-serine phosphorylation; negative regulation of osteoblast proliferation; response to cytokine stimulus; glial cell apoptosis; regulation of protein localization; response to nicotine; ureteric bud development; branching involved in ureteric bud morphogenesis; behavioral fear response; response to hypoxia; B cell homeostasis; release of cytochrome c from mitochondria; regulation of cell-matrix adhesion; lymphoid progenitor cell differentiation; B cell lineage commitment; T cell lineage commitment; immune system development; renal system process; protein dephosphorylation; melanin metabolic process; regulation of nitrogen utilization; negative regulation of ossification; regulation of gene expression; negative regulation of calcium | 18q21.3 |
| BCL2A1 | anti-apoptosis; regulation of apoptotic process | 15q24.3 |
| BCL2L1 | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; growth; positive regulation of apoptotic process; negative regulation of apoptotic process; negative regulation of neuron apoptosis; innate immune response; positive regulation of anti-apoptosis; response to cycloheximide; regulation of mitochondrial membrane permeability; regulation of mitochondrial membrane potential; cellular process regulating host cell cycle in response to virus; cellular response to amino acid stimulus; cellular response to alkaloid; cellular response to gamma radiation; mitotic cell cycle G2/M transition checkpoint; negative regulation of establishment of protein localization in plasma membrane; response to cytokine stimulus; fertilization; response to radiation; apoptotic mitochondrial changes; negative regulation of survival gene product expression; induction of apoptosis by intracellular signals; male gonad development; positive regulation of cell proliferation; spermatogenesis; germ cell developme | 20q11.21 |
| BCL2L10 | regulation of apoptotic process; female gamete generation; spermatogenesis; activation of cysteine-type endopeptidase activity involved in apoptotic process; anti-apoptosis | 15q21 |
| BCL2L11 | thymus development; positive regulation of intrinsic apoptotic signaling pathway; positive regulation of release of cytochrome c from mitochondria; cellular process regulating host cell cycle in response to virus; post-embryonic organ morphogenesis; spleen development; regulation of developmental pigmentation; nerve growth factor receptor signaling pathway; regulation of organ growth; ear development; activation of cysteine-type endopeptidase activity involved in apoptotic process; cell-matrix adhesion; spermatogenesis; male gonad development; induction of apoptosis by extracellular signals; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; post-embryonic development; positive regulation of cell cycle; induction of apoptosis; apoptotic process; myeloid cell homeostasis; mammary gland development; positive regulation of neuron apoptosis; kidney development; B cell apoptosis; B cell homeostasis; positive regulation of protein homooligomerization; tube formation; odontog | 2q13 |
| BCL2L12 | apoptotic process | 19q13.3 |
| BCL2L13 | regulation of apoptotic process; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process | 22q11.1 |
| BCL2L14 | apoptotic process; regulation of apoptotic process | 12p13-p12 |
| BCL2L15 | apoptotic process | 1p13.2 |
| BCL2L2 | anti-apoptosis; spermatogenesis; negative regulation of apoptotic process; Sertoli cell proliferation | 14q11.2-q12 |
| BCL3 | negative regulation of tumor necrosis factor biosynthetic process; regulation of apoptotic process; defense response to bacterium; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; defense response to protozoan; negative regulation of apoptotic process; T-helper 2 cell differentiation; positive regulation of interleukin-10 biosynthetic process; negative regulation of interleukin-8 biosynthetic process; positive regulation of translation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; spleen development; regulation of DNA binding; maintenance of protein location in nucleus; T-helper 1 type immune response; protein import into nucleus, translocation; follicular dendritic cell differentiation; marginal zone B cell differentiation; humoral immune response mediated by circulating immunoglobulin; germinal center formation; transcription, D | 19q13.1-q13.2 |
| BCL6 | negative regulation of mast cell cytokine production; negative regulation of Rho protein signal transduction; positive regulation of apoptotic process; negative regulation of apoptotic process; regulation of memory T cell differentiation; negative regulation of cell differentiation; negative regulation of T-helper 2 cell differentiation; negative regulation of S phase of mitotic cell cycle; negative regulation of transcription, DNA-dependent; negative regulation of isotype switching to IgE isotypes; erythrocyte development; regulation of inflammatory response; regulation of immune response; positive regulation of cellular component movement; negative regulation of type 2 immune response; response to DNA damage stimulus; regulation of Rho GTPase activity; protein import into nucleus, translocation; negative regulation of transcription from RNA polymerase II promoter; cell morphogenesis; negative regulation of cell-matrix adhesion; regulation of germinal center formation; negative regulation of B cell apoptosis | 3q27 |
| BCL6B | negative regulation of transcription from RNA polymerase II promoter | 17p13.1 |
| BCL7A | negative regulation of transcription, DNA-dependent | 12q24.13 |
| BCL7B | - | 7q11.23 |
| BCL7C | apoptotic process | 16p11 |
| BCL9 | regulation of transforming growth factor beta receptor signaling pathway; Wnt receptor signaling pathway | 1q21 |
| BCL9L | negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; regulation of cell morphogenesis; positive regulation of epithelial to mesenchymal transition; regulation of transcription, DNA-dependent | 11q23.3 |
| BCLAF1 | induction of apoptosis; positive regulation of apoptotic process; regulation of DNA-dependent transcription in response to stress; positive regulation of transcription initiation, DNA-dependent; positive regulation of response to DNA damage stimulus; negative regulation of transcription, DNA-dependent; positive regulation of intrinsic apoptotic signaling pathway | 6q22-q23 |
| BCO1 | retinoid metabolic process; steroid metabolic process; small molecule metabolic process | 16q23.2 |
| BCO2 | retinal metabolic process; carotene metabolic process; retinoic acid metabolic process | 11q23.1 |
| BCOR | heart development; negative regulation of histone H3-K36 methylation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of bone mineralization; histone H2A monoubiquitination; odontogenesis; negative regulation of transcription, DNA-dependent; negative regulation of histone H3-K4 methylation; palate development; specification of axis polarity; negative regulation of tooth mineralization; chromatin modification | Xp11.4 |
| BCORL1 | regulation of transcription, DNA-dependent; chromatin modification | Xq25-q26.1 |
| BCORP1 | - | Yq11.222 |
| BCR | inner ear morphogenesis; protein phosphorylation; signal transduction; small GTPase mediated signal transduction; brain development; actin cytoskeleton organization; negative regulation of cell migration; response to lipopolysaccharide; regulation of Rho protein signal transduction; negative regulation of neutrophil degranulation; positive regulation of GTPase activity; negative regulation of inflammatory response; positive regulation of phagocytosis; neuromuscular process controlling balance; regulation of small GTPase mediated signal transduction; regulation of cell cycle | 22q11.23 |
| BCRP1 | - | 22q11.23 |
| BCRP2 | - | 22q11.21 |
| BCRP5 | - | 22q11.21 |
| BCRP8 | - | 22q11.23 |
| BCS1L | mitochondrion organization; mitochondrial respiratory chain complex I assembly; mitochondrial respiratory chain complex IV assembly; mitochondrial respiratory chain complex III assembly | 2q33 |
| BCYRN1 | - | 2p21 |
| BDH1 | metabolic process; liver development; brain development; response to nutrient; adipose tissue development; response to growth hormone stimulus; response to corticosterone stimulus; ketone body catabolic process; ketone body biosynthetic process; cellular ketone body metabolic process; response to cadmium ion; response to ethanol; small molecule metabolic process; cellular lipid metabolic process; response to starvation; response to drug; response to insulin stimulus; response to estradiol stimulus; response to hormone stimulus; response to toxin | 3q29 |
| BDH2 | iron ion homeostasis; siderophore biosynthetic process; fatty acid beta-oxidation; heme metabolic process | 4q24 |
| BDH2P1 | - | 6q16.2 |
| BDKRB1 | response to lipopolysaccharide; positive regulation of release of sequestered calcium ion into cytosol; negative regulation of blood pressure; negative regulation of cell growth; negative regulation of protein phosphorylation; positive regulation of leukocyte migration; inflammatory response; elevation of cytosolic calcium ion concentration; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; cell migration; sensory perception of pain | 14q32.1-q32.2 |
| BDKRB2 | regulation of vasoconstriction; smooth muscle contraction; inflammatory response; cell surface receptor signaling pathway; transmembrane receptor protein tyrosine kinase signaling pathway; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration; arachidonic acid secretion; regulation of vascular permeability; blood circulation | 14q32.1-q32.2 |
| BDNF | inner ear development; feeding behavior; regulation of synaptic plasticity; regulation of retinal cell programmed cell death; positive regulation of neuron differentiation; negative regulation of neuron apoptosis; fear response; response to drug; nerve development; ureteric bud development; anti-apoptosis; nervous system development; negative regulation of neuroblast proliferation; axon guidance; axon target recognition; mechanoreceptor differentiation; regulation of metabolic process; dendrite development; glutamate secretion; neuron recognition; learning or memory | 11p13 |
| BDNF-AS | - | 11p14.1 |
| BDP1 | regulation of transcription, DNA-dependent; gene expression; transcription from RNA polymerase III promoter | 5q13 |
| BEAN1 | cell death | 16q21 |
| BECN1 | anti-apoptosis; positive regulation of macroautophagy; response to virus; negative regulation of cell proliferation; cell cycle; cellular defense response; autophagy; cytokinesis; autophagic vacuole assembly | 17q21 |
| BEGAIN | - | 14q32.2 |
| BEND2 | - | Xp22.13 |
| BEND3 | - | 6q21 |
| BEND3P3 | - | 10q22.3 |
| BEND4 | - | 4p13 |
| BEND5 | - | 1p33 |
| BEND6 | - | 6p12.1 |
| BEND7 | - | 10p13 |
| BEST1 | ion transport; transepithelial chloride transport; visual perception; chloride transport; response to stimulus | 11q13 |
| BEST2 | chloride transport; sensory perception of smell; membrane depolarization; ion transport | 19p13.2 |
| BEST3 | ion transmembrane transport; negative regulation of ion transport | 12q14.2-q15 |
| BEST4 | ion transport | 1p33-p32.3 |
| BET1 | vesicle fusion with Golgi apparatus; vesicle-mediated transport; protein transport; ER to Golgi vesicle-mediated transport | 7q21.1-q22 |
| BET1L | retrograde transport, endosome to Golgi; protein transport | 11p15.5 |
| BEX1 | cell differentiation; nervous system development; multicellular organismal development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of sequence-specific DNA binding transcription factor activity | Xq22.1|Xq22 |
| BEX2 | regulation of apoptotic process; regulation of cell cycle | Xq22 |
| BEX4 | - | Xq22.1-q22.3 |
| BEX5 | - | Xq22.1 |
| BFAR | anti-apoptosis; apoptotic process | 16p13.12 |
| BFSP1 | lens fiber cell development; cell maturation | 20p12.1 |
| BFSP2 | cell maturation; response to stimulus; intermediate filament cytoskeleton organization; lens fiber cell development; visual perception | 3q22.1 |
| BGLAP | response to nutrient levels; cellular response to vitamin D; bone development; response to glucocorticoid stimulus; regulation of osteoclast differentiation; response to ethanol; regulation of bone resorption; response to estrogen stimulus; response to drug; odontogenesis; response to hydroxyisoflavone; response to testosterone stimulus; response to vitamin D; response to mechanical stimulus; regulation of bone mineralization; bone mineralization; response to activity; skeletal system development; osteoblast differentiation; osteoblast development; cell adhesion; cell aging; response to zinc ion; response to inorganic substance; response to gravity | 1q22 |
| BGLT3 | - | 11p15.4 |
| BGN | peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; blood vessel remodeling | Xq28 |
| BHLHA15 | intracellular distribution of mitochondria; regulation of transcription, DNA-dependent; cell maturation; cell-cell signaling; positive regulation of transcription from RNA polymerase II promoter; glucose homeostasis; calcium-mediated signaling; mitochondrial calcium ion transport; Golgi organization; G-protein coupled receptor signaling pathway | 7q21.3 |
| BHLHA9 | regulation of transcription, DNA-dependent | 17p13.3 |
| BHLHB9 | - | Xq23 |
| BHLHE23 | regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of retinal cell programmed cell death; post-embryonic eye morphogenesis | 20q13.33 |
| BHLHE40 | negative regulation of sequence-specific DNA binding transcription factor activity; entrainment of circadian clock by photoperiod; circadian regulation of gene expression; response to light stimulus; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; regulation of neuronal synaptic plasticity | 3p26 |
| BHLHE40-AS1 | - | 3p26 |
| BHLHE41 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; circadian rhythm; cell proliferation; organ morphogenesis; negative regulation of myotube differentiation; negative regulation of transcription by competitive promoter binding; cell differentiation | 12p12.1 |
| BHMG1 | - | 19q13.32 |
| BHMT | cellular nitrogen compound metabolic process; methionine biosynthetic process; protein methylation; sulfur amino acid metabolic process; regulation of homocysteine metabolic process; small molecule metabolic process | 5q14.1 |
| BHMT2 | methionine biosynthetic process | 5q13 |
| BICC1 | multicellular organismal development; negative regulation of canonical Wnt receptor signaling pathway | 10q21.1 |
| BICD1 | anatomical structure morphogenesis; intracellular mRNA localization; transport; RNA processing; microtubule anchoring at microtubule organizing center; minus-end-directed organelle transport along microtubule; positive regulation of receptor-mediated endocytosis; stress granule assembly; protein localization to organelle; viral reproduction | 12p11.2-p11.1 |
| BICD2 | transport; microtubule anchoring at microtubule organizing center; minus-end-directed organelle transport along microtubule | 9q22.31 |
| BID | regulation of G1/S transition of mitotic cell cycle; positive regulation of release of cytochrome c from mitochondria; establishment of protein localization in membrane; neuron apoptosis; regulation of mitochondrial membrane permeability; positive regulation of apoptotic process; regulation of cell proliferation; positive regulation of protein homooligomerization; apoptotic process; brain development; protein targeting to mitochondrion; glial cell apoptosis; release of cytochrome c from mitochondria; induction of apoptosis via death domain receptors; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; apoptotic mitochondrial changes; response to estradiol stimulus; positive regulation of protein oligomerization | 22q11.1 |
| BIK | induction of apoptosis; spermatogenesis; male gonad development; positive regulation of protein homooligomerization; regulation of apoptotic process; positive regulation of release of cytochrome c from mitochondria | 22q13.31 |
| BIN1 | positive regulation of endocytosis; cell proliferation; muscle cell differentiation; positive regulation of GTPase activity; multicellular organismal development; interspecies interaction between organisms | 2q14 |
| BIN2 | - | 12q13 |
| BIN2P1 | - | 4q21.22 |
| BIN3 | protein localization; unidimensional cell growth; cytokinesis; barrier septum assembly; actin filament organization; cell cycle | 8p21.3 |
| BIN3-IT1 | - | 8p21.3 |
| BIRC2 | regulation of innate immune response; protein polyubiquitination; placenta development; apoptotic process; anti-apoptosis; cellular component disassembly involved in apoptosis; cell surface receptor signaling pathway; regulation of toll-like receptor signaling pathway; NIK/NF-kappaB cascade; regulation of RIG-I signaling pathway; regulation of cell proliferation; negative regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; proteasomal ubiquitin-dependent protein catabolic process; regulation of cysteine-type endopeptidase activity; regulation of nucleotide-binding oligomerization domain containing signaling pathway; regulation of cell cycle; regulation of inflammatory response; regulation of cell differentiation | 11q22 |
| BIRC3 | regulation of RIG-I signaling pathway; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; NIK/NF-kappaB cascade; regulation of toll-like receptor signaling pathway; cell surface receptor signaling pathway; anti-apoptosis; regulation of innate immune response; regulation of inflammatory response; regulation of nucleotide-binding oligomerization domain containing signaling pathway; regulation of cysteine-type endopeptidase activity | 11q22 |
| BIRC5 | G2/M transition of mitotic cell cycle; establishment of chromosome localization; cell division; positive regulation of mitotic cell cycle; negative regulation of transcription, DNA-dependent; regulation of apoptotic process; cytokinesis; protein phosphorylation; anti-apoptosis; chromosome segregation; mitosis; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of cell proliferation; protein complex localization; positive regulation of exit from mitosis; spindle checkpoint | 17q25 |
| BIRC6 | spongiotrophoblast layer development; apoptotic process; protein phosphorylation; labyrinthine layer development; anti-apoptosis; positive regulation of cell proliferation; protein ubiquitination; regulation of cytokinesis; regulation of cell proliferation | 2p22.3 |
| BIRC6-AS1 | - | - |
| BIRC7 | regulation of natural killer cell apoptosis; apoptotic process; DNA fragmentation involved in apoptotic nuclear change; anti-apoptosis; activation of JUN kinase activity; protein ubiquitination; regulation of cell proliferation | 20q13.3 |
| BIVM | - | 13q33.1 |
| BLACAT1 | - | 1q32.1 |
| BLACE | - | 7q36 |
| BLCAP | apoptotic process; cell cycle | 20q11.23 |
| BLID | apoptotic process | 11q24.1 |
| BLK | positive regulation of insulin secretion; B cell receptor signaling pathway; intracellular protein kinase cascade | 8p23-p22 |
| BLM | negative regulation of cell division; chromosome organization; protein oligomerization; regulation of binding; replication fork protection; positive regulation of alpha-beta T cell proliferation; alpha-beta T cell differentiation; negative regulation of mitotic recombination; negative regulation of DNA recombination; positive regulation of transcription, DNA-dependent; G2/M transition DNA damage checkpoint; regulation of cyclin-dependent protein kinase activity; G2 phase of mitotic cell cycle; telomere maintenance; double-strand break repair via homologous recombination; DNA strand renaturation; ATP catabolic process; DNA replication; response to DNA damage stimulus; response to X-ray; replication fork processing; cellular metabolic process; DNA recombination; DNA repair | 15q26.1 |
| BLMH | proteolysis; metabolic process; response to toxin; response to drug; antigen processing and presentation of peptide antigen via MHC class I; protein polyubiquitination | 17q11.2 |
| BLNK | intracellular signal transduction; inflammatory response; humoral immune response; transmembrane receptor protein tyrosine kinase signaling pathway; B cell differentiation | 10q23.2-q23.33 |
| BLOC1S1 | post-Golgi vesicle-mediated transport; cellular membrane organization; melanosome organization; platelet dense granule organization | 12q13-q14 |
| BLOC1S2 | platelet dense granule organization; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of apoptotic process; melanosome organization; positive regulation of cell proliferation; microtubule nucleation | 10q24.31 |
| BLOC1S3 | cellular membrane organization; eye development; post-Golgi vesicle-mediated transport; platelet activation; melanosome organization; positive regulation of natural killer cell activation; secretion of lysosomal enzymes; response to drug; pigmentation; developmental pigmentation; platelet dense granule organization | 19q13.32 |
| BLOC1S4 | - | 4p16.1 |
| BLOC1S5 | - | 6p25.1-p24.3 |
| BLOC1S6 | - | 15q21.1 |
| BLVRA | small molecule metabolic process; oxidation-reduction process; heme catabolic process; porphyrin-containing compound metabolic process | 7p13 |
| BLVRB | porphyrin-containing compound metabolic process; heme catabolic process; small molecule metabolic process | 19q13.1-q13.2 |
| BLZF1 | Golgi to plasma membrane protein transport; protein transport; cell proliferation; Golgi organization; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; regulation of cell growth; vesicle-mediated transport | 1q24 |
| BLZF2P | - | 14q24.1 |
| BMF | activation of pro-apoptotic gene products; induction of apoptosis by intracellular signals; apoptotic process; regulation of apoptotic process; positive regulation of release of cytochrome c from mitochondria; positive regulation of protein homooligomerization | 15q14 |
| BMI1 | positive regulation of immature T cell proliferation in thymus; humoral immune response; segment specification; brain development; regulation of gene expression; chromatin modification; histone acetylation; histone ubiquitination; rostrocaudal neural tube patterning; hemopoiesis; positive regulation of B cell proliferation; regulation of transcription, DNA-dependent; in utero embryonic development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process; somatic stem cell division; positive regulation of fibroblast proliferation; embryonic skeletal system morphogenesis; positive regulation of ubiquitin-protein ligase activity | 10p11.23 |
| BMP1 | positive regulation of cartilage development; small molecule metabolic process; lipoprotein metabolic process; cell differentiation; multicellular organismal development; lipid metabolic process; proteolysis; ossification; cartilage condensation; skeletal system development | 8p21.3 |
| BMP10 | ventricular cardiac muscle cell development; adult heart development; positive regulation of pathway-restricted SMAD protein phosphorylation; negative regulation of cell growth; negative regulation of cell migration; BMP signaling pathway; activin receptor signaling pathway; growth; sarcomere organization; positive regulation of transcription, DNA-dependent; atrial cardiac muscle tissue morphogenesis; Notch signaling pathway; multicellular organismal development; negative regulation of endothelial cell migration; positive regulation of cardiac muscle hypertrophy; negative regulation of cardiac muscle hypertrophy; ventricular cardiac muscle tissue morphogenesis; cardiac muscle cell proliferation; positive regulation of cardiac muscle cell proliferation; pathway-restricted SMAD protein phosphorylation; heart trabecula formation | 2p13.3 |
| BMP15 | granulosa cell development; female gamete generation; ovarian follicle development | Xp11.2 |
| BMP2 | positive regulation of apoptotic process; cellular response to growth factor stimulus; cellular response to organic cyclic compound; mesenchymal cell proliferation involved in ureteric bud development; positive regulation of ossification; positive regulation of osteoblast differentiation; positive regulation of neuron differentiation; positive regulation of fat cell differentiation; cell fate commitment; positive regulation of cartilage development; ovulation cycle; regulation of odontogenesis of dentin-containing tooth; positive regulation of odontogenesis; odontogenesis of dentin-containing tooth; bone mineralization involved in bone maturation; embryonic heart tube anterior/posterior pattern specification; cardiac cell differentiation; positive regulation of osteoblast proliferation; cardiac muscle tissue morphogenesis; negative regulation of cell cycle; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA po | 20p12 |
| BMP2K | regulation of bone mineralization; regulation of catalytic activity | 4q21.21 |
| BMP3 | skeletal system development; ossification; cell-cell signaling; multicellular organismal development; cell differentiation; growth; positive regulation of transcription from RNA polymerase II promoter; cartilage development | 4q21 |
| BMP4 | negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; negative regulation of phosphorylation; monocyte differentiation; macrophage differentiation; positive regulation of bone mineralization; BMP signaling pathway; positive regulation of BMP signaling pathway; positive regulation of collagen biosynthetic process; negative regulation of T cell differentiation in thymus; negative regulation of immature T cell proliferation in thymus; protein localization to nucleus; tendon cell differentiation; deltoid tuberosity development; growth; telencephalon development; odontogenesis; positive regulation of apoptotic process; negative regulation of apoptotic process; steroid hormone mediated signaling pathway; negative regulation of MAP kinase activity; negative regulation of myoblast differentiation; positive regulation of osteoblast differentiation; positive regulation of ossification; negative regulation of cell cycle; negative regulation of mitosis; negative regulat | 14q22-q23 |
| BMP5 | cell differentiation; cartilage development; growth; male genitalia development; pattern specification process; ossification; skeletal system development | 6p12.1 |
| BMP6 | positive regulation of transcription from RNA polymerase II promoter; SMAD protein signal transduction; cartilage development; positive regulation of osteoblast differentiation; positive regulation of neuron differentiation; positive regulation of endothelial cell differentiation; growth; positive regulation of aldosterone biosynthetic process; male genitalia development; BMP signaling pathway; positive regulation of pathway-restricted SMAD protein phosphorylation; positive regulation of bone mineralization; skeletal system development; eye development; kidney development; positive regulation of endothelial cell proliferation; endochondral ossification; inflammatory response; immune response; multicellular organismal development | 6p24-p23 |
| BMP7 | negative regulation of Notch signaling pathway; negative regulation of neurogenesis; neuron projection morphogenesis; mesenchymal cell differentiation; cartilage development; branching morphogenesis of a tube; anatomical structure formation involved in morphogenesis; embryonic camera-type eye morphogenesis; cell development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of mitosis; negative regulation of cell cycle; positive regulation of apoptotic process; embryonic skeletal joint morphogenesis; pathway-restricted SMAD protein phosphorylation; SMAD protein signal transduction; branching involved in salivary gland morphogenesis; mesenchyme development; negative regulation of cell death; negative regulation of prostatic bud formation; regulation of branching involved in prostate gland morphogenesis; monocyte aggregation; cellular response to hypoxia; negative reg | 20q13 |
| BMP8A | ossification; multicellular organismal development; cell differentiation; growth; cartilage development | 1p34.3 |
| BMP8B | ossification; skeletal system development; cell differentiation; growth; cartilage development; multicellular organismal development | 1p35-p32 |
| BMPER | negative regulation of BMP signaling pathway; regulation of endothelial cell migration; blood vessel endothelial cell proliferation involved in sprouting angiogenesis; ureteric bud development; endothelial cell activation; regulation of pathway-restricted SMAD protein phosphorylation; positive regulation of ERK1 and ERK2 cascade | 7p14.3 |
| BMPR1A | BMP signaling pathway; lateral mesoderm development; hindlimb morphogenesis; odontogenesis of dentin-containing tooth; embryonic digit morphogenesis; positive regulation of osteoblast differentiation; paraxial mesoderm development; paraxial mesoderm structural organization; regulation of lateral mesodermal cell fate specification; mesendoderm development; embryonic organ development; developmental growth; positive regulation of epithelial cell proliferation; negative regulation of neurogenesis; cartilage development; palate development; positive regulation of SMAD protein import into nucleus; neural plate pattern specification; heart formation; lung development; in utero embryonic development; mesoderm formation; somitogenesis; Mullerian duct regression; positive regulation of mesenchymal cell proliferation; endocardial cushion formation; protein phosphorylation; immune response; transforming growth factor beta receptor signaling pathway; ectoderm development; nervous system development; dorsal/ventral axis s | 10q22.3 |
| BMPR1APS1 | - | 6q22.33 |
| BMPR1B | ovarian cumulus expansion; positive regulation of osteoblast differentiation; positive regulation of cell differentiation; ovulation cycle; limb morphogenesis; BMP signaling pathway; positive regulation of bone mineralization; transmembrane receptor protein serine/threonine kinase signaling pathway; protein phosphorylation; eye development; cartilage condensation; skeletal system development | 4q22-q24 |
| BMPR2 | positive regulation of pathway-restricted SMAD protein phosphorylation; negative regulation of cell growth; regulation of lung blood pressure; positive regulation of bone mineralization; BMP signaling pathway; positive regulation of BMP signaling pathway; regulation of cell proliferation; positive regulation of osteoblast differentiation; negative regulation of vasoconstriction; retina development in camera-type eye; lung alveolus development; vascular endothelial growth factor receptor signaling pathway; positive regulation of endothelial cell migration; anterior/posterior pattern specification; positive regulation of epithelial cell migration; mesoderm formation; positive regulation of endothelial cell proliferation; negative regulation of systemic arterial blood pressure; transmembrane receptor protein serine/threonine kinase signaling pathway; brain development; cellular response to starvation; transcription from RNA polymerase II promoter | 2q33-q34 |
| BMS1 | ribosome assembly | 10q11.21 |
| BMS1P1 | - | 10q11.22 |
| BMS1P2 | - | 10q11.22 |
| BMS1P20 | - | 22q11.22 |
| BMS1P4 | - | 10q22.2 |
| BMS1P5 | - | 10q11.22 |
| BMS1P6 | - | 10q11.22 |
| BMS1P7 | - | 10q11.22 |
| BMX | intracellular signal transduction; protein autophosphorylation; mesoderm development; signal transduction; cell adhesion; response to stress; apoptotic process; protein phosphorylation; cellular component disassembly involved in apoptosis | Xp22.2 |
| BNC1 | epidermis development; positive regulation of cell proliferation; regulation of transcription, DNA-dependent | 15q25.2 |
| BNC2 | regulation of transcription, DNA-dependent | 9p22.2 |
| BNIP1 | anti-apoptosis; endoplasmic reticulum membrane fusion; vesicle-mediated transport; endoplasmic reticulum organization; induction of apoptosis; apoptotic process; autophagy | 5q33-q34 |
| BNIP2 | positive regulation of muscle cell differentiation; striated muscle cell differentiation; positive regulation of small GTPase mediated signal transduction; positive regulation of neuron differentiation; positive regulation of MAPK cascade; muscle cell differentiation; anti-apoptosis; apoptotic process; positive regulation of GTPase activity | 15q22.2 |
| BNIP3 | negative regulation of membrane potential; positive regulation of mitochondrial fission; regulation of mitochondrial membrane permeability; autophagic cell death; brown fat cell differentiation; neuron apoptosis; defense response to virus; response to hyperoxia; cellular response to hydrogen peroxide; cellular response to mechanical stimulus; cellular response to cobalt ion; cellular response to hypoxia; reactive oxygen species metabolic process; interspecies interaction between organisms; mitochondrial fragmentation involved in apoptosis; positive regulation of protein complex disassembly; negative regulation of mitochondrial fusion; negative regulation of survival gene product expression; induction of apoptosis by intracellular signals; cell death; induction of apoptosis; anti-apoptosis; apoptotic process; chromatin remodeling; DNA fragmentation involved in apoptotic nuclear change; response to hypoxia; positive regulation of release of cytochrome c from mitochondria | 10q26.3 |
| BNIP3L | induction of apoptosis; negative regulation of survival gene product expression; mitochondrial protein catabolic process; negative regulation of apoptotic process; interspecies interaction between organisms; defense response to virus | 8p21 |
| BNIP3P1 | - | 14q12 |
| BNIPL | apoptotic process; regulation of growth rate; negative regulation of cell proliferation; induction of apoptosis | 1q21.3 |
| BOC | positive regulation of myoblast differentiation; positive regulation of muscle cell differentiation; muscle cell differentiation; cell adhesion | 3q13.2 |
| BOD1 | cell cycle; mitosis; cell division | 5q35.2 |
| BOD1L1 | - | 4p16.1 |
| BOK | induction of apoptosis; apoptotic process; signal transduction by p53 class mediator resulting in induction of apoptosis; oligodendrocyte differentiation; male gonad development; cell proliferation; brain development; activation of cysteine-type endopeptidase activity involved in apoptotic process | 2q37.3 |
| BOK-AS1 | - | 2q37.3 |
| BOLA1 | - | 1q21 |
| BOLA2 | - | 16p11.2 |
| BOLA2B | - | 16p11.2 |
| BOLA3 | - | 2p13.1 |
| BOLA3-AS1 | - | - |
| BOLL | positive regulation of translational initiation; cell differentiation; spermatogenesis; multicellular organismal development; meiosis; regulation of translation | 2q33 |
| BORA | regulation of mitosis; cell division; regulation of mitotic spindle organization; regulation of protein localization; cell cycle | 13q22.1 |
| BORCS5 | - | 12p12 |
| BORCS6 | - | 17p13.1 |
| BORCS7 | - | 10q24.32 |
| BORCS8 | heart development | 19p13.11 |
| BPGM | carbohydrate metabolic process; glycolysis; respiratory gaseous exchange; erythrocyte development | 7q33 |
| BPHL | cellular amino acid metabolic process; response to toxin | 6p25 |
| BPIFA1 | innate immune response | 20q11.2 |
| BPIFA2 | - | 20q11.21 |
| BPIFA3 | - | 20q11.21 |
| BPIFA4P | - | 20q11.21 |
| BPIFB1 | - | 20q11.21 |
| BPIFB2 | - | 20q11.21 |
| BPIFB3 | innate immune response | 20q11.21 |
| BPIFB4 | - | 20q11.21 |
| BPIFB5P | - | - |
| BPIFB6 | - | 20q11.21 |
| BPIFB9P | - | 20q11.21 |
| BPIFC | - | 22q12.3 |
| BPNT1 | nervous system development; xenobiotic metabolic process; nucleobase-containing compound metabolic process; dephosphorylation; small molecule metabolic process; phosphatidylinositol phosphorylation; 3'-phosphoadenosine 5'-phosphosulfate metabolic process | 1q41 |
| BPTF | negative regulation of transcription from RNA polymerase II promoter; chromatin remodeling; transcription, DNA-dependent; regulation of transcription, DNA-dependent; brain development; positive regulation of transcription, DNA-dependent | 17q24.3 |
| BPY2C | spermatogenesis; single fertilization | Yq11.223 |
| BRAF | nerve growth factor receptor signaling pathway; activation of MAPKK activity; protein phosphorylation; anti-apoptosis; small GTPase mediated signal transduction; synaptic transmission; fibroblast growth factor receptor signaling pathway; organ morphogenesis; positive regulation of peptidyl-serine phosphorylation; positive regulation of ERK1 and ERK2 cascade; response to cAMP; negative regulation of neuron apoptosis; negative regulation of apoptotic process; positive regulation of gene expression; response to peptide hormone stimulus | 7q34 |
| BRAFP1 | - | Xq13.3 |
| BRAP | protein ubiquitination; MAPK cascade; Ras protein signal transduction; negative regulation of signal transduction | 12q24 |
| BRAT1 | response to ionizing radiation | 7p22.3 |
| BRCA1 | positive regulation of histone H4-K20 methylation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of centriole replication; positive regulation of histone H3-K4 methylation; negative regulation of histone H3-K4 methylation; negative regulation of histone H3-K9 methylation; positive regulation of histone H3-K9 methylation; protein autoubiquitination; positive regulation of cell cycle arrest; protein K6-linked ubiquitination; regulation of cell motility; positive regulation of histone H3-K9 acetylation; positive regulation of histone H4-K16 acetylation; cellular response to indole-3-methanol; regulation of transcription from RNA polymerase II promoter; response to nutrient; brain development; centrosome cycle; chromosome segregation; cell cycle; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; response to DNA damage stimulus; apoptotic process; regulatio | 17q21 |
| BRCA2 | DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; multicellular organism growth; negative regulation of mammary gland epithelial cell proliferation; cell cycle cytokinesis; regulation of cytokinesis; response to estradiol stimulus; homologous chromosome orientation involved in meiotic metaphase I plate congression; mammary gland development; hemopoiesis; chordate embryonic development; histone H3 acetylation; histone H4 acetylation; positive regulation of transcription, DNA-dependent; positive regulation of mitotic cell cycle; replication fork protection; inner cell mass cell proliferation; chromosome organization; centrosome duplication; response to UV-C; double-strand break repair via homologous recombination; oocyte maturation; DNA repair; nucleotide-excision repair; double-strand break repair; DNA recombination; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; cell cycle; regulation of S phase | 13q12.3 |
| BRCC3 | histone H2A K63-linked deubiquitination; double-strand break repair; proteolysis; response to X-ray; chromatin modification; G2/M transition DNA damage checkpoint; positive regulation of DNA repair; protein K63-linked deubiquitination; response to ionizing radiation; regulation of catalytic activity | Xq28 |
| BRD1 | chromatin modification; histone H3 acetylation | 22q13.33 |
| BRD2 | spermatogenesis | 6p21.3 |
| BRD3 | - | 9q34 |
| BRD4 | regulation of transcription involved in G1 phase of mitotic cell cycle; positive regulation of DNA binding; histone H4-K12 acetylation; histone H3-K14 acetylation; interspecies interaction between organisms; positive regulation of transcription elongation from RNA polymerase II promoter; inner cell mass cell proliferation; positive regulation of G2/M transition of mitotic cell cycle; protein phosphorylation; chromosome segregation | 19p13.1 |
| BRD7 | negative regulation of G1/S transition of mitotic cell cycle; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of histone acetylation; regulation of transcription from RNA polymerase II promoter; cell cycle; Wnt receptor signaling pathway; negative regulation of cell proliferation | 16q12 |
| BRD7P1 | - | 14q11.2 |
| BRD7P2 | - | 3q25.33 |
| BRD7P3 | - | 6q22.31 |
| BRD7P4 | - | 6q21 |
| BRD7P5 | - | 13q32.1 |
| BRD8 | regulation of growth; regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; signal transduction; cell surface receptor signaling pathway; chromatin modification; histone H4 acetylation; histone H2A acetylation | 5q31 |
| BRD9 | - | 5p15.33 |
| BRDT | chromatin remodeling; regulation of transcription, DNA-dependent | 1p22.1 |
| BRDTP1 | - | Xq21.33 |
| BRE | G2/M transition DNA damage checkpoint; positive regulation of DNA repair; positive regulation of anti-apoptosis; chromatin modification; response to ionizing radiation; signal transduction; response to DNA damage stimulus; double-strand break repair; apoptotic process | 2p23.2 |
| BRE-AS1 | - | 2p23 |
| BRF1 | regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; gene expression; tRNA transcription; rRNA transcription; transcription initiation from RNA polymerase III promoter; transcription from RNA polymerase III promoter; transcription initiation, DNA-dependent | 14q |
| BRF2 | transcription initiation, DNA-dependent; regulation of transcription, DNA-dependent; transcription from RNA polymerase III promoter; gene expression | 8p11.23 |
| BRI3 | - | 7q21.3 |
| BRI3BP | - | 12q24.31 |
| BRICD5 | - | 16p13.3 |
| BRINP1 | negative regulation of cell cycle; cell death; cell cycle arrest | 9q32-q33 |
| BRINP2 | nervous system development; negative regulation of cell cycle | 1q24 |
| BRINP3 | negative regulation of cell cycle; nervous system development | 1q31.1 |
| BRIP1 | regulation of transcription from RNA polymerase II promoter; double-strand break repair; nucleobase-containing compound metabolic process; DNA damage checkpoint | 17q22.2 |
| BRIX1 | ribosome biogenesis | 5p13.2 |
| BRK1 | - | 3p25.3 |
| BRK1P2 | - | - |
| BRMS1 | negative regulation of anti-apoptosis; negative regulation of transcription, DNA-dependent; positive regulation of protein deacetylation; positive regulation of anoikis; apoptotic process; negative regulation of NF-kappaB transcription factor activity | 11q13-q13.2 |
| BRMS1L | regulation of growth; regulation of transcription, DNA-dependent | 14q13.2 |
| BROX | - | 1q41 |
| BRPF1 | positive regulation of transcription, DNA-dependent; chromatin modification; histone H3 acetylation | 3p26-p25 |
| BRPF3 | platelet degranulation; blood coagulation; chromatin modification; platelet activation; histone H3 acetylation | 6p21 |
| BRS3 | bombesin receptor signaling pathway; glucose metabolic process; regulation of blood pressure; adult feeding behavior | Xq26.3 |
| BRSK1 | axonogenesis; cell cycle; response to UV; response to DNA damage stimulus; protein phosphorylation; nervous system development; response to ionizing radiation; establishment of cell polarity; neuron differentiation; G2/M transition DNA damage checkpoint; centrosome duplication; neurotransmitter secretion | 19q13.4 |
| BRSK2 | protein phosphorylation; nervous system development; axonogenesis; neuron differentiation; establishment of cell polarity | 11p15.5 |
| BRWD1 | cytoskeleton organization; regulation of transcription from RNA polymerase II promoter; regulation of cell shape | 21q22.2 |
| BRWD1-AS1 | - | - |
| BRWD1-IT2 | - | 21q22.2 |
| BRWD3 | regulation of cell shape; cytoskeleton organization | Xq21.1 |
| BSCL2 | cell death | 11q13 |
| BSDC1 | - | 1p35.1 |
| BSG | pyruvate metabolic process; cell surface receptor signaling pathway; response to cAMP; leukocyte migration; decidualization; response to mercury ion; embryo implantation; small molecule metabolic process; response to peptide hormone stimulus; odontogenesis of dentin-containing tooth; lactate transmembrane transport; blood coagulation | 19p13.3 |
| BSN | synaptic transmission | 3p21.31 |
| BSND | chloride transport | 1p32.1 |
| BSPRY | calcium ion transport; ion transport | 9q32 |
| BST1 | multicellular organismal development; humoral immune response | 4p15 |
| BST2 | defense response to virus; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; B cell activation; cell proliferation; humoral immune response; multicellular organismal development; cell-cell signaling; signal transduction | 19p13.1 |
| BSX | locomotory behavior; eating behavior; positive regulation of transcription from RNA polymerase II promoter; mammary gland involution | 11q24.1 |
| BTAF1 | negative regulation of transcription, DNA-dependent | 10q22-q23 |
| BTBD1 | regulation of protein binding | 15q24 |
| BTBD10 | - | 11p15.2 |
| BTBD11 | - | 12q23.3 |
| BTBD16 | - | 10q26.13 |
| BTBD18 | - | 11q12.1 |
| BTBD19 | - | 1p34.1 |
| BTBD2 | - | 19p13.3 |
| BTBD3 | - | 20p12.2 |
| BTBD6 | - | 14q32 |
| BTBD7 | - | 14q32.12 |
| BTBD8 | - | 1p22.1 |
| BTBD9 | cell adhesion | 6p21 |
| BTC | positive regulation of cell proliferation; negative regulation of apoptotic process; positive regulation of cell division | 4q13.3 |
| BTD | nitrogen compound metabolic process; central nervous system development; epidermis development | 3p25 |
| BTF3 | transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; in utero embryonic development | 5q13.2 |
| BTF3L4 | - | 1p32.3 |
| BTF3L4P1 | - | - |
| BTF3L4P3 | - | 6q23.3 |
| BTF3L4P4 | - | 4q32.3 |
| BTF3P10 | - | 6q25.1 |
| BTF3P11 | - | 13q22 |
| BTF3P12 | - | 8q13.3 |
| BTF3P4 | - | 9q21.13 |
| BTF3P5 | - | 2p16.1 |
| BTF3P7 | - | 6p25.1 |
| BTG1 | positive regulation of angiogenesis; regulation of transcription, DNA-dependent; negative regulation of cell proliferation; cell migration; negative regulation of cell growth; regulation of apoptotic process; positive regulation of endothelial cell differentiation; positive regulation of myoblast differentiation | 12q22 |
| BTG1P1 | - | 12p13.31 |
| BTG2 | negative regulation of cell proliferation; negative regulation of apoptotic process; DNA repair; regulation of transcription, DNA-dependent; protein methylation; negative regulation of neural precursor cell proliferation; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening; response to electrical stimulus; positive regulation of anti-apoptosis; response to DNA damage stimulus; response to organic cyclic compound; associative learning; response to mechanical stimulus; anterior/posterior pattern specification; response to organic nitrogen; response to peptide hormone stimulus; neuron projection development; neuron differentiation; central nervous system neuron development; dentate gyrus development | 1q32 |
| BTG3 | negative regulation of cell proliferation; negative regulation of mitotic cell cycle | 21q21.1 |
| BTG4 | neuron differentiation; negative regulation of mitotic cell cycle; negative regulation of cell proliferation; cell cycle arrest | 11q23 |
| BTK | protein phosphorylation; apoptotic process; regulation of B cell cytokine production; I-kappaB kinase/NF-kappaB cascade; mesoderm development; induction of apoptosis by extracellular signals; peptidyl-tyrosine phosphorylation; calcium-mediated signaling; intracellular signal transduction; adaptive immune response; B cell activation; innate immune response; positive regulation of B cell differentiation; cell maturation; B cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; regulation of transcription, DNA-dependent; regulation of B cell apoptosis | Xq21.33-q22 |
| BTLA | T cell costimulation | 3q13.2 |
| BTN1A1 | negative regulation of cytokine secretion; negative regulation of activated T cell proliferation; negative regulation of cellular metabolic process | 6p22.1 |
| BTN2A1 | lipid metabolic process | 6p22.1 |
| BTN2A2 | negative regulation of cellular metabolic process; negative regulation of activated T cell proliferation; negative regulation of cytokine secretion | 6p22.1 |
| BTN2A3P | - | 6p22.1 |
| BTN3A1 | lipid metabolic process | 6p22.1 |
| BTN3A2 | - | 6p22.1 |
| BTN3A3 | - | 6p21.3 |
| BTNL3 | lipid metabolic process | 5q35.3 |
| BTNL8 | - | 5q35.3 |
| BTNL9 | - | 5q35.3 |
| BTRC | positive regulation of transcription, DNA-dependent; regulation of proteasomal protein catabolic process; cellular response to organic cyclic compound; protein catabolic process; negative regulation of sequence-specific DNA binding transcription factor activity; interspecies interaction between organisms; positive regulation of proteolysis; negative regulation of smoothened signaling pathway; negative regulation of transcription, DNA-dependent; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of circadian rhythm; mammary gland epithelial cell proliferation; protein destabilization; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; branching involved in mammary gland duct morphogenesis; protein ubiquitination; Wnt receptor signaling pathway; viral reprod | 10q24.32 |
| BUB1 | interspecies interaction between organisms; spindle assembly checkpoint; regulation of chromosome segregation; cell division; embryo development; cell proliferation; mitotic cell cycle spindle assembly checkpoint; mitotic cell cycle checkpoint; regulation of sister chromatid cohesion; apoptotic process; protein phosphorylation; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 2q14 |
| BUB1B | cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; protein localization to kinetochore; cell cycle checkpoint; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; protein phosphorylation; apoptotic process; spindle organization; mitosis; mitotic metaphase/anaphase transition; mitotic cell cycle checkpoint; mitotic cell cycle spindle assembly checkpoint; cell proliferation; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; phosphatidylinositol-mediated signaling | 15q15 |
| BUB3 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; mitotic cell cycle; mitotic cell cycle spindle assembly checkpoint; meiosis; attachment of spindle microtubules to kinetochore; cell division; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of chromosome segregation; spindle assembly checkpoint; mitotic sister chromatid segregation; cell cycle checkpoint; M phase of mitotic cell cycle; mitotic prometaphase | 10q26 |
| BUD13 | mRNA export from nucleus; nuclear mRNA splicing, via spliceosome | 11q23.3 |
| BUD31 | regulation of transcription from RNA polymerase II promoter | 7q22.1 |
| BVES | regulation of Cdc42 GTPase activity; muscle organ development; multicellular organismal development; cell adhesion; positive regulation of receptor recycling; substrate adhesion-dependent cell spreading; regulation of Rac GTPase activity; vesicle-mediated transport; epithelial cell-cell adhesion; regulation of cell shape; positive regulation of locomotion | 6q21 |
| BVES-AS1 | - | 6q21 |
| BYSL | ribosome biogenesis; female pregnancy; cell adhesion | 6p21.1 |
| BZRAP1 | - | 17q22-q23 |
| BZRAP1-AS1 | - | - |
| BZW1 | regulation of transcription, DNA-dependent; RNA metabolic process | 2q33 |
| BZW1P1 | - | 3q26.31 |
| BZW2 | RNA metabolic process; cell differentiation; nervous system development; multicellular organismal development | 7p21.1 |
| C10orf10 | - | 10q11.21 |
| C10orf107 | - | 10q21.2 |
| C10orf11 | - | 10q22.3 |
| C10orf111 | - | 10p13 |
| C10orf112 | - | 10p12.31 |
| C10orf113 | - | 10p12.31 |
| C10orf12 | - | 10q24.1 |
| C10orf120 | - | 10q26.13 |
| C10orf128 | - | 10q11.23 |
| C10orf131 | - | 10q24.1 |
| C10orf2 | DNA unwinding involved in replication; transcription from mitochondrial promoter; cell death; protein hexamerization; protein homooligomerization; mitochondrial DNA replication; DNA replication | 10q24 |
| C10orf25 | - | 10q11.21 |
| C10orf35 | - | 10q22.1 |
| C10orf54 | - | 10q22.1 |
| C10orf55 | - | 10q22.2 |
| C10orf62 | - | 10q24.2 |
| C10orf67 | - | 10p12.2 |
| C10orf71 | - | 10q11.23 |
| C10orf71-AS1 | - | - |
| C10orf76 | - | 10q24.32 |
| C10orf82 | - | 10q25.3 |
| C10orf85 | - | 10q26.12 |
| C10orf88 | - | 10q26.13 |
| C10orf90 | mitotic cell cycle G2/M transition DNA damage checkpoint; response to DNA damage stimulus; protein stabilization; negative regulation of cell growth; response to ionizing radiation; response to UV | 10q26.2 |
| C10orf91 | - | 10q26.3 |
| C10orf99 | - | 10q23.1 |
| C11orf1 | - | 11q23.1 |
| C11orf16 | - | 11p15.3 |
| C11orf21 | - | 11p15.5 |
| C11orf24 | - | 11q13 |
| C11orf31 | cell redox homeostasis | 11q12.1 |
| C11orf39 | - | 11q25 |
| C11orf44 | - | 11q24.3 |
| C11orf45 | - | 11q24.3 |
| C11orf49 | - | 11p11.2 |
| C11orf52 | - | 11q23.1 |
| C11orf53 | - | 11q23.1 |
| C11orf54 | - | 11q21 |
| C11orf57 | - | 11q23.1 |
| C11orf58 | - | 11p15.1 |
| C11orf63 | - | 11q24.1 |
| C11orf65 | - | 11q22.3 |
| C11orf68 | - | 11q13.1 |
| C11orf70 | - | 11q22.1 |
| C11orf71 | - | 11q23.2 |
| C11orf73 | multicellular organismal development; Golgi organization; lung development | 11q14.2 |
| C11orf74 | - | 11p12 |
| C11orf80 | - | 11q13.2 |
| C11orf84 | - | 11q13.1 |
| C11orf85 | - | 11q13.1 |
| C11orf86 | - | 11q13.2 |
| C11orf87 | - | 11q22.3 |
| C11orf88 | - | 11q23.1 |
| C11orf95 | - | 11q13 |
| C11orf96 | - | 11p11.2 |
| C12orf10 | pigmentation | 12q13 |
| C12orf29 | - | 12q21.32 |
| C12orf4 | - | 12p13.3 |
| C12orf40 | - | 12q12 |
| C12orf42 | - | 12q23.2 |
| C12orf43 | - | 12q |
| C12orf45 | - | 12q23.3 |
| C12orf49 | - | 12q24.22 |
| C12orf50 | - | 12q21.32 |
| C12orf54 | - | 12q13.11 |
| C12orf55 | - | 12q23.1 |
| C12orf56 | - | 12q14.2 |
| C12orf57 | - | 12p13.31 |
| C12orf60 | - | 12p12.3 |
| C12orf65 | translational termination | 12q24.31 |
| C12orf66 | - | 12q14.2 |
| C12orf73 | - | 12q23.3 |
| C12orf75 | - | 12q23.3 |
| C12orf76 | - | 12q24.11 |
| C12orf80 | - | 12q13.13 |
| C14orf1 | sterol biosynthetic process | 14q24.3 |
| C14orf105 | - | 14q22.3 |
| C14orf119 | - | 14q11.2 |
| C14orf132 | - | 14q32.2 |
| C14orf142 | - | 14q32.12 |
| C14orf144 | - | 14q32.33 |
| C14orf159 | - | 14q32.11 |
| C14orf166 | positive regulation of transcription from RNA polymerase II promoter | 14q22.1 |
| C14orf169 | negative regulation of transcription, DNA-dependent; chromatin modification; histone H3-K4 demethylation; negative regulation of osteoblast differentiation; histone H3-K36 demethylation | 14q24.3 |
| C14orf2 | - | 14q32.33 |
| C14orf28 | - | 14q21.2 |
| C14orf37 | - | 14q23.1 |
| C14orf39 | regulation of sequence-specific DNA binding transcription factor activity; multicellular organismal development | 14q23.1 |
| C14orf79 | - | 14q32.33 |
| C14orf80 | - | 14q32.33 |
| C14orf93 | - | 14q11.2 |
| C15orf39 | - | 15q24.2 |
| C15orf40 | - | 15q25.2 |
| C15orf41 | - | 15q14 |
| C15orf48 | - | 15q21.1 |
| C15orf52 | - | 15q15.1 |
| C15orf53 | - | 15q14 |
| C15orf54 | - | 15q14 |
| C15orf56 | - | 15q15.1 |
| C15orf57 | - | 15q15.1 |
| C15orf59 | - | 15q24.1 |
| C15orf61 | - | 15q23 |
| C15orf62 | - | 15q15.1 |
| C15orf65 | - | 15q21.3 |
| C16orf13 | - | 16p13.3 |
| C16orf45 | - | 16p13.11 |
| C16orf46 | - | 16q23.2 |
| C16orf47 | - | 16q22.3 |
| C16orf52 | - | 16p12.2 |
| C16orf54 | - | 16p11.2 |
| C16orf58 | - | 16p11.2 |
| C16orf59 | - | 16p13.3 |
| C16orf62 | - | 16p12.3 |
| C16orf70 | Golgi to plasma membrane protein transport | 16q22.1 |
| C16orf71 | - | 16p13.3 |
| C16orf72 | - | 16p13.2 |
| C16orf74 | - | 16q24.1 |
| C16orf78 | - | 16q12.1 |
| C16orf82 | - | 16p12.1 |
| C16orf86 | - | 16q22.1 |
| C16orf87 | - | 16q11.2 |
| C16orf89 | - | 16p13.3 |
| C16orf90 | - | 16p13.3 |
| C16orf91 | - | 16p13.3 |
| C16orf92 | - | 16p11.2 |
| C16orf95 | - | 16q24.2 |
| C16orf96 | - | 16p13.3 |
| C16orf97 | - | 16q12.1 |
| C17orf100 | - | 17p13.1 |
| C17orf105 | - | 17q21.31 |
| C17orf107 | - | 17p13.2 |
| C17orf112 | - | - |
| C17orf47 | - | 17q22 |
| C17orf49 | chromatin modification | 17p13.1 |
| C17orf50 | - | 17q12 |
| C17orf51 | - | 17p11.2 |
| C17orf53 | - | 17q21.31 |
| C17orf58 | - | 17q24.2 |
| C17orf62 | - | 17q25.3 |
| C17orf64 | - | 17q23.2 |
| C17orf67 | - | 17q22 |
| C17orf74 | - | 17p13.1 |
| C17orf75 | spermatogenesis | 17q11.2 |
| C17orf77 | - | 17q25.1 |
| C17orf78 | - | 17q12 |
| C17orf80 | - | 17q25.1 |
| C17orf89 | - | 17q25.3 |
| C17orf96 | - | 17q12 |
| C17orf97 | - | 17p13.3 |
| C17orf99 | - | 17q25.3 |
| C18orf12 | - | 18q21.1 |
| C18orf15 | - | 18p11.21 |
| C18orf21 | - | 18q12.2 |
| C18orf25 | - | 18q21.1 |
| C18orf32 | signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 18q21.1 |
| C18orf42 | - | 18p11.31 |
| C18orf54 | - | 18q21.2 |
| C18orf61 | - | 18p11.22 |
| C18orf63 | - | 18q22.3 |
| C18orf65 | - | 18q23 |
| C18orf8 | - | 18q11.2 |
| C19orf12 | cell death | 19q12 |
| C19orf18 | - | 19q13.43 |
| C19orf24 | - | 19p13.3 |
| C19orf25 | - | 19p13.3 |
| C19orf33 | - | 19q13.2 |
| C19orf38 | - | 19p13.2 |
| C19orf43 | - | 19p13.2 |
| C19orf44 | - | 19p13.11 |
| C19orf45 | - | 19p13.2 |
| C19orf47 | - | 19q13.2 |
| C19orf48 | - | 19q13.33 |
| C19orf52 | - | 19p13.2 |
| C19orf53 | - | 19p13.2 |
| C19orf54 | - | 19q13.2 |
| C19orf57 | multicellular organismal development | 19p13.12 |
| C19orf60 | - | 19p13.11 |
| C19orf66 | - | 19p13.2 |
| C19orf67 | - | 19p13.12 |
| C19orf68 | - | 19q13.33 |
| C19orf70 | - | 19p13.3 |
| C19orf71 | - | 19p13.3 |
| C19orf81 | - | 19q13.33 |
| C1D | negative regulation of transcription, DNA-dependent; maturation of 5.8S rRNA; apoptotic process | 2p13-p12 |
| C1DP1 | - | 10p11.22 |
| C1DP2 | - | 10q22.3 |
| C1DP3 | - | 10q22.3 |
| C1GALT1 | cellular protein metabolic process; O-glycan processing; multicellular organismal development; kidney development; angiogenesis; cell differentiation; post-translational protein modification | 7p21.3 |
| C1GALT1C1 | O-glycan processing; post-translational protein modification; cellular protein metabolic process | Xq24 |
| C1GALT1C1L | - | 2p21 |
| C1orf101 | - | 1q44 |
| C1orf105 | - | 1q24.3 |
| C1orf106 | - | 1q32.1 |
| C1orf109 | - | 1p34.3 |
| C1orf112 | - | 1q24.2 |
| C1orf115 | - | 1q41 |
| C1orf116 | - | 1q32.1 |
| C1orf122 | - | 1p34.3 |
| C1orf123 | - | 1p32.3 |
| C1orf127 | - | 1p36.22 |
| C1orf131 | - | 1q42.2 |
| C1orf132 | - | 1q32.2 |
| C1orf138 | - | 1q21.2 |
| C1orf140 | - | 1q41 |
| C1orf141 | - | 1p31.3 |
| C1orf143 | - | 1q41 |
| C1orf145 | - | 1q42.13 |
| C1orf148 | - | 1q42.13 |
| C1orf158 | - | 1p36.21 |
| C1orf159 | - | 1p36.33 |
| C1orf162 | - | 1p13.2 |
| C1orf167 | - | 1p36.22 |
| C1orf168 | - | 1p32.2 |
| C1orf174 | - | 1p36.32 |
| C1orf185 | - | 1p32.3 |
| C1orf186 | - | 1q32.1 |
| C1orf191 | - | 1p32.3 |
| C1orf194 | - | 1p13.3 |
| C1orf195 | - | 1p36.21 |
| C1orf198 | - | 1q42.2 |
| C1orf204 | - | 1q23.2 |
| C1orf21 | - | 1q25 |
| C1orf210 | - | 1p34.2 |
| C1orf216 | - | 1p34.3 |
| C1orf220 | - | 1q25.2 |
| C1orf222 | - | 1p36.33 |
| C1orf226 | - | 1q23.3 |
| C1orf228 | - | 1p34.1 |
| C1orf233 | - | 1p36.33 |
| C1orf234 | - | 1p36.12 |
| C1orf27 | - | 1q25 |
| C1orf35 | - | 1q42.13 |
| C1orf43 | - | 1q21.2 |
| C1orf50 | - | 1p34.2 |
| C1orf52 | - | 1p22.3 |
| C1orf53 | - | 1q31.3 |
| C1orf54 | - | 1q21.2 |
| C1orf56 | - | 1q21.3 |
| C1orf61 | - | 1q22 |
| C1orf64 | - | 1p36.13 |
| C1orf68 | epidermis development | 1q21.3 |
| C1orf74 | - | 1q32.2 |
| C1orf87 | - | 1p32.1 |
| C1orf94 | - | 1p34.3 |
| C1QB | aging; complement activation, classical pathway; complement activation; brain development; response to glucocorticoid stimulus; innate immune response; response to organic substance | 1p36.12 |
| C1QBP | interspecies interaction between organisms; blood coagulation, intrinsic pathway; blood coagulation; immune response | 17p13.3 |
| C1QBPP | - | 21q21.1 |
| C1QC | negative regulation of granulocyte differentiation; complement activation, classical pathway; immune response; complement activation; negative regulation of macrophage differentiation; innate immune response | 1p36.11 |
| C1QL1 | locomotory behavior | 17q21 |
| C1QL3 | - | 10p13 |
| C1QL4 | - | 12q13.12 |
| C1QTNF1 | protein homooligomerization | 17q25.3 |
| C1QTNF1-AS1 | - | - |
| C1QTNF2 | positive regulation of fatty acid oxidation; positive regulation of glycogen biosynthetic process; activation of MAPK activity; positive regulation of glucose import; protein homooligomerization | 5q33.3 |
| C1QTNF3 | negative regulation of gluconeogenesis | 5p13 |
| C1QTNF5 | - | 11q23.3 |
| C1QTNF6 | - | 22q13.1 |
| C1QTNF9 | - | 13q12.12 |
| C1QTNF9-AS1 | - | - |
| C1QTNF9B | - | 13q12.12 |
| C1QTNF9B-AS1 | - | 13q12 |
| C1R | innate immune response; complement activation, classical pathway; complement activation; immune response; proteolysis | 12p13 |
| C1RL | innate immune response; proteolysis; complement activation, classical pathway | 12p13.31 |
| C1RL-AS1 | - | 12p13.31 |
| C1S | complement activation, classical pathway; glial cell differentiation; innate immune response; response to cAMP; complement activation; proteolysis | 12p13 |
| C2 | complement activation; innate immune response; complement activation, classical pathway; proteolysis | 6p21.3 |
| C20orf141 | - | 20p13 |
| C20orf144 | - | 20q11.22 |
| C20orf166-AS1 | - | 20q13.33 |
| C20orf173 | - | 20q11.22 |
| C20orf181 | - | 20q13.33 |
| C20orf187 | - | 20p12.2 |
| C20orf194 | - | 20p13 |
| C20orf195 | - | 20q13.33 |
| C20orf196 | - | 20p12.3 |
| C20orf197 | - | 20q13.33 |
| C20orf202 | - | 20p13 |
| C20orf203 | - | 20q11.21 |
| C20orf24 | - | 20q11.23 |
| C20orf27 | - | 20p13 |
| C20orf57 | - | 20q11.21 |
| C20orf96 | - | 20p13 |
| C21orf15 | - | 21q11 |
| C21orf2 | cytoskeleton organization; regulation of cell shape | 21q22.3 |
| C21orf33 | - | 21q22.3 |
| C21orf58 | - | 21q22.3 |
| C21orf59 | - | 21q22.1 |
| C21orf62 | - | 21q22.11 |
| C21orf62-AS1 | - | 21q22.11 |
| C21orf91 | - | 21q21.1 |
| C21orf91-OT1 | - | 21q21.1 |
| C22orf15 | - | 22q11.23 |
| C22orf23 | - | 22q13.1 |
| C22orf24 | - | 22q12.1-q12.3 |
| C22orf29 | - | 22q11.21 |
| C22orf34 | - | 22q13.33 |
| C22orf39 | - | 22q11.21 |
| C22orf42 | - | 22q12.3 |
| C22orf46 | - | 22q13.2 |
| C2CD2 | - | 21q22.3 |
| C2CD2L | - | 11q23.3 |
| C2CD3 | - | 11q13.4 |
| C2CD4A | - | 15q22.2 |
| C2CD4B | - | 15q22.2 |
| C2CD4C | - | 19p13.3 |
| C2CD4D | - | 1q21.3 |
| C2CD5 | - | 12p12.1 |
| C2orf15 | - | 2q11.2 |
| C2orf16 | - | 2p23.3 |
| C2orf27A | - | 2q21.2 |
| C2orf40 | cyclin catabolic process; G1 to G0 transition; cellular senescence | 2q12.2 |
| C2orf42 | - | 2p13.3 |
| C2orf44 | - | 2p23.3 |
| C2orf47 | - | 2q33.1 |
| C2orf48 | - | 2p25.1 |
| C2orf49 | embryonic morphogenesis | 2q12.1 |
| C2orf50 | - | 2p25.1 |
| C2orf54 | - | 2q37.3 |
| C2orf61 | - | 2p21 |
| C2orf66 | - | 2q33.1 |
| C2orf68 | - | 2p11.2 |
| C2orf69 | - | 2q33.1 |
| C2orf70 | - | 2p23.3 |
| C2orf71 | visual perception; response to stimulus | 2p23.2 |
| C2orf72 | - | 2q37.1 |
| C2orf73 | - | 2p16.2 |
| C2orf74 | - | 2p15 |
| C2orf76 | - | 2q14.2 |
| C2orf78 | - | 2p13.1 |
| C2orf80 | - | 2q34 |
| C2orf81 | - | 2p13.1 |
| C2orf82 | - | 2q37.1 |
| C2orf88 | - | 2q32.2 |
| C2orf90 | - | 2p25.3 |
| C2orf91 | - | 2p21 |
| C3 | immune response; regulation of immune response; positive regulation of phagocytosis; positive regulation of angiogenesis; innate immune response; positive regulation vascular endothelial growth factor production; G-protein coupled receptor signaling pathway; signal transduction; complement activation, classical pathway; complement activation, alternative pathway; complement activation; inflammatory response; positive regulation of activation of membrane attack complex; positive regulation of type IIa hypersensitivity | 19p13.3-p13.2 |
| C3AR1 | chemotaxis; positive regulation of neutrophil chemotaxis; complement receptor mediated signaling pathway; tolerance induction to nonself antigen; inflammatory response; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration; blood circulation; regulation of blood pressure; positive regulation vascular endothelial growth factor production; positive regulation of macrophage chemotaxis; positive regulation of cell migration; positive regulation of angiogenesis | 12p13.31 |
| C3orf14 | - | 3p14.2 |
| C3orf17 | - | 3q13.2 |
| C3orf18 | - | 3p21.3 |
| C3orf20 | - | 3p25.1 |
| C3orf22 | - | 3q21.3 |
| C3orf33 | - | 3q25.31 |
| C3orf35 | - | 3p22.2 |
| C3orf36 | - | 3q22.1 |
| C3orf38 | apoptotic process | 3p11.1 |
| C3orf49 | - | 3p14.1 |
| C3orf52 | - | 3q13.2 |
| C3orf56 | - | 3q21.3 |
| C3orf58 | - | 3q24 |
| C3orf62 | - | 3p21.31 |
| C3orf67 | - | 3p14.2 |
| C3orf67-AS1 | - | - |
| C3orf70 | - | 3q27.2 |
| C3orf80 | - | 3q25.33 |
| C3orf84 | - | 3p21.31 |
| C3P1 | - | 19p13.2 |
| C4BPA | innate immune response; complement activation, classical pathway | 1q32 |
| C4BPAP1 | - | 1q32.2 |
| C4BPB | innate immune response; blood coagulation; complement activation, classical pathway | 1q32 |
| C4orf17 | - | 4q23 |
| C4orf19 | - | 4p14 |
| C4orf22 | - | 4q21.21 |
| C4orf26 | - | 4q21.1 |
| C4orf27 | - | 4q33 |
| C4orf3 | - | 4q26 |
| C4orf32 | - | 4q25 |
| C4orf33 | - | 4q28.2 |
| C4orf45 | - | 4q32.1 |
| C4orf46 | - | 4q32.1 |
| C4orf47 | - | 4q35.1 |
| C4orf48 | - | 4p16.3 |
| C4orf50 | - | 4p16.2 |
| C4orf51 | - | 4q31.21 |
| C5 | induction of apoptosis; cellular calcium ion homeostasis; leukocyte migration involved in inflammatory response; in utero embryonic development; chemotaxis; response to stress; inflammatory response; activation of MAPK activity; complement activation, alternative pathway; negative regulation of norepinephrine secretion; negative regulation of macrophage chemotaxis; cytolysis; negative regulation of dopamine secretion; glucose homeostasis; innate immune response; positive regulation of angiogenesis; positive regulation of chemotaxis; positive regulation of chemokine secretion; complement activation; positive regulation vascular endothelial growth factor production; G-protein coupled receptor signaling pathway; cell surface receptor signaling pathway; complement activation, classical pathway | 9q33-q34 |
| C5AR1 | chemotaxis; activation of MAPK activity; immune response; cellular defense response; signal transduction; activation of phospholipase C activity; elevation of cytosolic calcium ion concentration; sensory perception of chemical stimulus; neutrophil chemotaxis; response to peptidoglycan; defense response to Gram-positive bacterium | 19q13.3-q13.4 |
| C5AR2 | - | 19q13.33 |
| C5orf15 | - | 5q31.1 |
| C5orf17 | - | 5p14.2 |
| C5orf22 | - | 5p13.3 |
| C5orf24 | - | 5q31.1 |
| C5orf28 | - | 5p12 |
| C5orf30 | protein transport; cilium morphogenesis; cell projection organization | 5q21.1 |
| C5orf34 | - | 5p12 |
| C5orf38 | - | 5p15.33 |
| C5orf42 | - | 5p13.2 |
| C5orf45 | - | 5q35.3 |
| C5orf46 | - | 5q32 |
| C5orf47 | - | 5q35.2 |
| C5orf49 | - | 5p15.31 |
| C5orf50 | - | 5q35.1 |
| C5orf51 | - | 5p13.1 |
| C5orf52 | - | 5q33.3 |
| C5orf56 | - | 5q31.1 |
| C5orf58 | - | 5q35.1 |
| C5orf60 | - | 5q35.3 |
| C5orf63 | electron transport chain; transport | 5q23.2 |
| C5orf64 | - | 5q12.1 |
| C5orf66 | - | - |
| C5orf66-AS1 | - | 5q31.1 |
| C5orf66-AS2 | - | 5q31.2 |
| C6 | positive regulation of angiogenesis; innate immune response; cytolysis; complement activation, classical pathway; complement activation; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; positive regulation of activation of membrane attack complex; in utero embryonic development | 5p13 |
| C6orf1 | - | 6p21.31 |
| C6orf10 | - | 6p21.3 |
| C6orf100 | - | 6p22.1 |
| C6orf106 | - | 6p21.31 |
| C6orf118 | - | 6q27 |
| C6orf120 | - | 6q27 |
| C6orf132 | - | 6p21.1 |
| C6orf136 | - | 6p21.33 |
| C6orf141 | - | 6p12.3 |
| C6orf15 | extracellular matrix organization | 6p21.3 |
| C6orf163 | - | 6q15 |
| C6orf183 | - | 6q21 |
| C6orf201 | - | 6p25.2 |
| C6orf203 | - | 6q21 |
| C6orf222 | - | 6p21.31 |
| C6orf223 | - | 6p21.1 |
| C6orf226 | - | 6p21.1 |
| C6orf229 | - | - |
| C6orf25 | - | 6p21.33 |
| C6orf47 | - | 6p21.3 |
| C6orf48 | - | 6p21.3 |
| C6orf52 | - | 6p24.1 |
| C6orf58 | - | 6q22.33 |
| C6orf62 | - | 6p22.3 |
| C6orf89 | wound healing; positive regulation of cell cycle; epithelial cell proliferation | 6p21.2 |
| C6orf99 | - | 6q25.3 |
| C7 | immune response; complement activation; innate immune response; cytolysis; complement activation, classical pathway; complement activation, alternative pathway | 5p13 |
| C7orf13 | - | 7q36.3 |
| C7orf25 | - | 7p14.1 |
| C7orf26 | - | 7p22.1 |
| C7orf31 | - | 7p15.3 |
| C7orf34 | - | 7q34 |
| C7orf43 | - | 7q22.1 |
| C7orf49 | - | 7q33 |
| C7orf50 | - | 7p22.3 |
| C7orf55 | - | 7q34 |
| C7orf57 | - | 7p12.3 |
| C7orf60 | - | 7q31.1 |
| C7orf61 | - | 7q22.1 |
| C7orf62 | - | 7q21.13 |
| C7orf65 | - | 7p12.3 |
| C7orf66 | - | 7q31.1 |
| C7orf69 | - | 7p12.3 |
| C7orf71 | - | 7p15.2 |
| C7orf72 | - | 7p12.2 |
| C7orf73 | - | 7q33 |
| C7orf76 | - | 7q21.3 |
| C7orf77 | - | 7q31.33 |
| C8A | immune response; innate immune response; cytolysis; complement activation, classical pathway; complement activation, alternative pathway; complement activation | 1p32 |
| C8B | immune response; complement activation; complement activation, alternative pathway; complement activation, classical pathway; cytolysis; innate immune response | 1p32.2 |
| C8G | complement activation, alternative pathway; cytolysis; innate immune response; complement activation, classical pathway | 9q34.3 |
| C8orf22 | - | 8q11 |
| C8orf31 | - | 8q24.3 |
| C8orf33 | - | 8q24.3 |
| C8orf34 | signal transduction | 8q13 |
| C8orf34-AS1 | - | 8q13.1 |
| C8orf37 | - | 8q22.1 |
| C8orf37-AS1 | - | - |
| C8orf4 | apoptotic process | 8p11.2 |
| C8orf44 | - | 8q13.1 |
| C8orf46 | - | 8q13.1 |
| C8orf48 | - | 8p22 |
| C8orf49 | - | 8p23.1 |
| C8orf58 | - | 8p21 |
| C8orf59 | - | 8q21.2 |
| C8orf60 | - | 8q24.3 |
| C8orf66 | - | 8q24.3 |
| C8orf74 | - | 8p23.1 |
| C8orf76 | - | 8q24.13 |
| C8orf82 | - | 8q24 |
| C8orf87 | - | 8q22.1 |
| C8orf88 | - | 8q21.3 |
| C9 | activation of cysteine-type endopeptidase activity involved in apoptotic process; innate immune response; hemolysis by symbiont of host erythrocytes; cytolysis; blood coagulation; complement activation, classical pathway; complement activation, alternative pathway; induction of apoptosis | 5p14-p12 |
| C9orf106 | - | 9q34.11 |
| C9orf114 | - | 9q34.11 |
| C9orf116 | - | 9q34.3 |
| C9orf131 | - | 9p13.3 |
| C9orf135 | - | 9q21.12 |
| C9orf139 | - | 9q34.3 |
| C9orf142 | - | 9q34.3 |
| C9orf147 | - | 9q32 |
| C9orf152 | - | 9q31.3 |
| C9orf153 | - | 9q21.33 |
| C9orf16 | - | 9q34.1 |
| C9orf170 | - | 9q21.33 |
| C9orf172 | - | 9q34.3 |
| C9orf173-AS1 | - | 9q34.3 |
| C9orf24 | cellular protein complex assembly | 9p13.3 |
| C9orf3 | proteolysis; leukotriene biosynthetic process | 9q22.32 |
| C9orf40 | - | 9q21.13 |
| C9orf43 | - | 9q32 |
| C9orf47 | - | 9q22.1 |
| C9orf50 | - | 9q34.11 |
| C9orf57 | - | 9q21.13 |
| C9orf62 | - | 9q34.3 |
| C9orf64 | - | 9q21.32 |
| C9orf66 | - | 9p24.3 |
| C9orf69 | - | 9q34.3 |
| C9orf72 | cell death | 9p21.2 |
| C9orf78 | - | 9q34.11 |
| C9orf84 | - | 9q31.3 |
| C9orf85 | - | 9q21.13 |
| C9orf9 | - | 9q34 |
| C9orf91 | - | 9q32 |
| CA1 | one-carbon metabolic process | 8q21.2 |
| CA10 | brain development | 17q21.33 |
| CA11 | - | 19q13.3 |
| CA12 | one-carbon metabolic process | 15q22 |
| CA13 | one-carbon metabolic process | 8q21.2 |
| CA14 | - | 1q21 |
| CA15P1 | - | - |
| CA2 | response to stress; kidney development; morphogenesis of an epithelium; one-carbon metabolic process; response to pH; response to organic substance; response to zinc ion; positive regulation of cellular pH reduction; odontogenesis of dentin-containing tooth; carbon dioxide transport; response to estrogen stimulus; positive regulation of osteoclast differentiation; positive regulation of bone resorption; secretion | 8q22 |
| CA3 | one-carbon metabolic process; response to oxidative stress | 8q21.2 |
| CA4 | response to steroid hormone stimulus; organ development; response to drug; bicarbonate transport; one-carbon metabolic process | 17q23 |
| CA5AP1 | - | 16p11.2 |
| CA5B | one-carbon metabolic process; metabolic process | Xp21.1 |
| CA5BP1 | - | Xp22.2 |
| CA6 | one-carbon metabolic process | 1p36.2 |
| CA7 | one-carbon metabolic process | 16q22.1 |
| CA8 | phosphatidylinositol-mediated signaling; one-carbon metabolic process | 8q12.1 |
| CA9 | secretion; morphogenesis of an epithelium; one-carbon metabolic process | 9p13.3 |
| CAAP1 | apoptotic process | 9p21.2 |
| CAB39 | protein heterooligomerization; positive regulation of protein phosphorylation; cell cycle arrest; insulin receptor signaling pathway; regulation of fatty acid oxidation | 2q37.1 |
| CAB39L | cell cycle arrest; insulin receptor signaling pathway; regulation of fatty acid oxidation | 13q14.2 |
| CABIN1 | cell surface receptor signaling pathway; chromatin modification; negative regulation of cell death | 22q11.23 |
| CABLES1 | nervous system development; blood coagulation; regulation of cell division; regulation of cell cycle | 18q11.2 |
| CABLES2 | regulation of cell division; regulation of cell cycle | 20q13.33 |
| CABP1 | negative regulation of catalytic activity | 12q24.31 |
| CABP4 | phototransduction; visual perception; signal transduction; photoreceptor cell morphogenesis; retinal cone cell development; retinal bipolar neuron differentiation | 11q13.2 |
| CABP5 | signal transduction | 19q13.33 |
| CABP7 | - | 22q12.2 |
| CABS1 | spermatogenesis | 4q13.3 |
| CABYR | sperm capacitation; ciliary or flagellar motility; signal transduction | 18q11.2 |
| CACFD1 | synaptic vesicle endocytosis | 9q34 |
| CACHD1 | calcium ion transport; ion transport | 1p31.3 |
| CACNA1A | neurotransmitter metabolic process; cerebellar molecular layer development; adult walking behavior; cerebellar Purkinje cell layer development; cerebellar Purkinje cell differentiation; vestibular nucleus development; neuromuscular process controlling balance; musculoskeletal movement, spinal reflex action; cellular chloride ion homeostasis; negative regulation of hormone biosynthetic process; synaptic transmission, glutamatergic; cell death; thyroid hormone metabolic process; receptor clustering; negative regulation of neuron apoptosis; small molecule metabolic process; behavioral response to pain; calcium ion-dependent exocytosis of neurotransmitter; dendrite morphogenesis; regulation of axonogenesis; regulation of insulin secretion; cerebellum maturation; transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; gamma-aminobutyric acid secretion; membrane depolarization; regulation of acetylcholine secretion; cell growth; regulation of calcium ion-dependent ex | 19p13 |
| CACNA1B | transport; ion transport; calcium ion transport; transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; membrane depolarization; synaptic transmission | 9q34 |
| CACNA1C | regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of insulin secretion; calcium ion transport into cytosol; transmembrane transport; ion transport; elevation of cytosolic calcium ion concentration; energy reserve metabolic process; axon guidance; small molecule metabolic process | 12p13.3 |
| CACNA1C-AS1 | - | - |
| CACNA1C-IT3 | - | - |
| CACNA1D | axon guidance; small molecule metabolic process; regulation of insulin secretion; regulation of calcium ion transport via voltage-gated calcium channel activity; transmembrane transport; energy reserve metabolic process; ion transport; calcium ion transport | 3p14.3 |
| CACNA1E | behavioral response to pain; regulation of somatostatin secretion; regulation of insulin secretion involved in cellular response to glucose stimulus; transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; membrane depolarization; regulation of insulin secretion; energy reserve metabolic process; small molecule metabolic process; glucose homeostasis; sperm motility; sensory perception of pain; visual learning; locomotory behavior; synaptic transmission; ion transport; transport; behavioral fear response; regulation of heart rate | 1q25.3 |
| CACNA1F | regulation of calcium ion transport via voltage-gated calcium channel activity; cellular calcium ion homeostasis; axon guidance; visual perception; dendrite morphogenesis; response to stimulus; detection of light stimulus involved in visual perception; transmembrane transport; retina development in camera-type eye; ion transport | Xp11.23 |
| CACNA1G | transmembrane transport; response to nickel cation; axon guidance; synaptic transmission; regulation of atrial cardiomyocyte membrane depolarization; regulation of heart rate; transport; ion transport; calcium ion transport | 17q22 |
| CACNA1G-AS1 | - | 17q21.33 |
| CACNA1H | axon guidance; cortisol biosynthetic process; cellular response to hormone stimulus; cellular response to potassium ion; aldosterone biosynthetic process; regulation of heart contraction; myoblast fusion; muscle organ development; muscle contraction; ion transport; transport; positive regulation of acrosome reaction; transmembrane transport | 16p13.3 |
| CACNA1I | transport; transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; axon guidance; signal transduction; calcium ion transport; ion transport | 22q13.1 |
| CACNA1S | muscle cell development; transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; skeletal muscle adaptation; neuromuscular junction development; myoblast fusion; axon guidance; striated muscle contraction; muscle contraction; calcium ion transport; ion transport; endoplasmic reticulum organization; extraocular skeletal muscle development; skeletal system development | 1q32 |
| CACNA2D1 | ion transport; calcium ion transport; regulation of calcium ion transport via voltage-gated calcium channel activity | 7q21-q22 |
| CACNA2D2 | regulation of multicellular organism growth; neuromuscular junction development; positive regulation of organ growth; muscle fiber development; regulation of insulin secretion; small molecule metabolic process; rhythmic synaptic transmission; ion transport; energy reserve metabolic process | 3p21.3 |
| CACNA2D3 | ion transport | 3p21.1 |
| CACNA2D3-AS1 | - | - |
| CACNA2D4 | ion transport | 12p13.33 |
| CACNB1 | ion transport; axon guidance; regulation of calcium ion transport via voltage-gated calcium channel activity; protein targeting to membrane; transport | 17q21-q22 |
| CACNB2 | transport; ion transport; calcium ion transport; synaptic transmission; calcium ion transmembrane transport; regulation of calcium ion transport via voltage-gated calcium channel activity; visual perception; neuromuscular junction development; axon guidance | 10p12 |
| CACNB3 | membrane depolarization; transport; ion transport; calcium ion transport; synaptic transmission; axon guidance; regulation of calcium ion transport via voltage-gated calcium channel activity | 12q13 |
| CACNB4 | ion transport; transport; synaptic transmission; axon guidance; membrane depolarization; regulation of calcium ion transport via voltage-gated calcium channel activity | 2q22-q23 |
| CACNG1 | regulation of calcium ion transport via voltage-gated calcium channel activity; transport; ion transport; muscle contraction | 17q24 |
| CACNG2 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; membrane hyperpolarization; regulation of calcium ion transport via voltage-gated calcium channel activity; membrane depolarization; transport; ion transport; synaptic transmission; neuromuscular junction development | 22q13.1 |
| CACNG4 | membrane depolarization; regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; synaptic transmission; ion transport; transport | 17q24 |
| CACNG5 | regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; transport; ion transmembrane transport | 17q24 |
| CACNG6 | ion transport; calcium ion transport; regulation of calcium ion transport via voltage-gated calcium channel activity | 19q13.4 |
| CACNG7 | ion transport; calcium ion transport; regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity | 19q13.4 |
| CACNG8 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; regulation of calcium ion transport via voltage-gated calcium channel activity; calcium ion transport; ion transport; synaptic transmission | 19q13.4 |
| CACTIN | - | 19p13.3 |
| CACUL1 | - | 10q26.11 |
| CACYBP | aging; cellular response to calcium ion; negative regulation of cell death; response to growth hormone stimulus; cardiac muscle cell differentiation; positive regulation of DNA replication; heart development | 1q24-q25 |
| CACYBPP2 | - | 2q32.1 |
| CAD | response to caffeine; nitrogen compound metabolic process; glutamine catabolic process; glutamine metabolic process; cellular amino acid metabolic process; pyrimidine nucleotide biosynthetic process; 'de novo' pyrimidine base biosynthetic process; pyrimidine base metabolic process; female pregnancy; embryo development; response to amine stimulus; drug metabolic process; peptidyl-threonine phosphorylation; organ regeneration; response to testosterone stimulus; small molecule metabolic process; pyrimidine nucleoside biosynthetic process; protein autophosphorylation; nucleobase-containing small molecule metabolic process; carbamoyl phosphate biosynthetic process | 2p22-p21 |
| CADM1 | detection of stimulus; activated T cell proliferation; positive regulation of cytokine secretion; positive regulation of natural killer cell mediated cytotoxicity; cell-cell junction organization; susceptibility to natural killer cell mediated cytotoxicity; adherens junction organization; cell junction assembly; cell differentiation; cell recognition; spermatogenesis; multicellular organismal development; heterophilic cell-cell adhesion; homophilic cell adhesion; cell adhesion; apoptotic process; T cell mediated cytotoxicity | 11q23.2 |
| CADM2 | cell junction assembly; adherens junction organization; cell-cell junction organization | 3p12.1 |
| CADM3 | cell adhesion; homophilic cell adhesion; cell-cell junction organization; heterophilic cell-cell adhesion; cell junction assembly; adherens junction organization | 1q21.2-q22 |
| CADM3-AS1 | - | 1q23.2 |
| CADM4 | cell adhesion | 19q13.31 |
| CADPS | catecholamine secretion; positive regulation of calcium ion-dependent exocytosis; synaptic vesicle priming; exocytosis; protein transport; vesicle organization | 3p14.2 |
| CADPS2 | positive regulation of exocytosis; synaptic vesicle priming; protein transport | 7q31.3 |
| CAGE1 | - | 6p24.3 |
| CALB1 | locomotory behavior; learning or memory; retina layer formation; metanephric ureteric bud development; regulation of synaptic plasticity; retina development in camera-type eye; metanephric collecting duct development; metanephric distal convoluted tubule development; metanephric connecting tubule development | 8q21.3 |
| CALB2 | - | 16q22.2 |
| CALCA | cell-cell signaling; neuropeptide signaling pathway; elevation of cytosolic calcium ion concentration; activation of adenylate cyclase activity; activation of adenylate cyclase activity by G-protein signaling pathway; leukocyte cell-cell adhesion; positive regulation of macrophage differentiation; cellular calcium ion homeostasis; embryo implantation; aging; feeding behavior; regulation of blood pressure; response to heat; negative regulation of calcium ion transport into cytosol; negative regulation of ossification; positive regulation of cAMP biosynthetic process; receptor internalization; negative regulation of neurological system process; activation of protein kinase activity; positive regulation of interleukin-1 alpha production; positive regulation of interleukin-8 production; endothelial cell migration; monocyte chemotaxis; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; cytosolic calcium ion homeostasis; detection of temperature stimulu | 11p15.2 |
| CALCB | cellular calcium ion homeostasis; signal transduction; vasodilation | 11p15.2-p15.1 |
| CALCOCO1 | Wnt receptor signaling pathway; positive regulation of transcription, DNA-dependent; intracellular steroid hormone receptor signaling pathway; signal transduction; transcription, DNA-dependent | 12q13.13 |
| CALCOCO2 | response to interferon-gamma; viral reproduction | 17q21.32 |
| CALCP | - | 11p15.1 |
| CALCR | activation of adenylate cyclase activity by G-protein signaling pathway; activation of adenylate cyclase activity; activation of phospholipase C activity; elevation of cytosolic calcium ion concentration; protein transport; positive regulation of cAMP biosynthetic process; receptor internalization; positive regulation of adenylate cyclase activity; response to glucocorticoid stimulus; protein localization in plasma membrane | 7q21.3 |
| CALCRL | G-protein signaling, coupled to cyclic nucleotide second messenger; positive regulation of smooth muscle cell proliferation; regulation of muscle contraction; calcium ion transport; negative regulation of inflammatory response; cellular response to sucrose stimulus; angiogenesis; positive regulation of cAMP biosynthetic process; protein transport; cAMP biosynthetic process; heart development; activation of adenylate cyclase activity by G-protein signaling pathway; receptor internalization | 2q32.1 |
| CALD1 | cellular component movement; muscle contraction; positive regulation of protein binding; actin filament bundle assembly | 7q33 |
| CALHM1 | ion transport | 10q24.33 |
| CALHM2 | - | 10q24.33 |
| CALHM3 | - | 10q24.33 |
| CALM1 | - | 14q32.11 |
| CALM1P1 | - | Xq21.33 |
| CALM2P2 | - | 10q22.1 |
| CALM3 | platelet degranulation; carbohydrate metabolic process; glycogen catabolic process; glucose metabolic process; muscle contraction; signal transduction; epidermal growth factor receptor signaling pathway; G-protein coupled receptor signaling pathway; activation of phospholipase C activity; synaptic transmission; blood coagulation; fibroblast growth factor receptor signaling pathway; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; platelet activation; regulation of cytokinesis; small molecule metabolic process; nitric oxide metabolic process; nerve growth factor receptor signaling pathway; regulation of nitric-oxide synthase activity; response to calcium ion; negative regulation of ryanodine-sensitive calcium-release channel activity; positive regulation of ryanodine-sensitive calcium-release channel activity | 19q13.2-q13.3 |
| CALML3 | - | 10p15.1 |
| CALML3-AS1 | - | 10p15.1 |
| CALML4 | - | 15q23 |
| CALML5 | epidermis development; signal transduction | 10p15.1 |
| CALML6 | - | 1p36.33 |
| CALN1 | - | 7q11 |
| CALR | positive regulation of cell proliferation; spermatogenesis; cell cycle arrest; activation of signaling protein activity involved in unfolded protein response; cellular calcium ion homeostasis; glucocorticoid receptor signaling pathway; protein export from nucleus; positive regulation of gene expression; negative regulation of translation; protein N-linked glycosylation via asparagine; protein maturation by protein folding; cortical actin cytoskeleton organization; endoplasmic reticulum unfolded protein response; response to estradiol stimulus; negative regulation of intracellular steroid hormone receptor signaling pathway; response to testosterone stimulus; protein localization to nucleus; regulation of meiosis; response to drug; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular senescence; positive regulation of cell cycle; cellular response to organic substance; cellular response to lithium ion; cardiac muscle cell differentiation; sequestering of calcium ion; protei | 19p13.3-p13.2 |
| CALR3 | cell differentiation; spermatogenesis; protein folding | 19p13.11 |
| CALU | platelet activation; blood coagulation; platelet degranulation | 7q32.1 |
| CALY | clathrin coat assembly; positive regulation of endocytosis; dopamine receptor signaling pathway | 10q26.3 |
| CAMK1 | positive regulation of neuron projection development; cell differentiation; regulation of protein localization; positive regulation of protein serine/threonine kinase activity; nervous system development; multicellular organismal development; signal transduction; cell cycle; nucleocytoplasmic transport; protein phosphorylation; positive regulation of dendritic spine development; positive regulation of synapse structural plasticity; regulation of protein binding; positive regulation of muscle cell differentiation; regulation of muscle cell differentiation; positive regulation of protein export from nucleus | 3p25.3 |
| CAMK1D | positive regulation of neuron projection development; positive regulation of neutrophil chemotaxis; nervous system development; regulation of granulocyte chemotaxis; positive regulation of respiratory burst; regulation of dendrite development; inflammatory response; positive regulation of phagocytosis; regulation of apoptotic process; positive regulation of CREB transcription factor activity | 10p13 |
| CAMK1G | - | 1q32.2 |
| CAMK2A | interferon-gamma-mediated signaling pathway; positive regulation of NF-kappaB transcription factor activity; cytokine-mediated signaling pathway; synaptic transmission; protein phosphorylation | 5q32 |
| CAMK2B | peptidyl-serine phosphorylation; regulation of calcium ion transport; regulation of skeletal muscle adaptation; positive regulation of neuron projection development; nervous system development; multicellular organismal development; synaptic transmission; signal transduction; protein phosphorylation; positive regulation of synapse maturation; cytokine-mediated signaling pathway; cell differentiation; induction of apoptosis in response to chemical stimulus; regulation of synaptic transmission, cholinergic; response to cadmium ion; protein autophosphorylation; regulation of long-term neuronal synaptic plasticity; neuromuscular process controlling balance; regulation of synapse structural plasticity; activation of meiosis involved in egg activation; regulation of dendritic spine development; positive regulation of dendritic spine morphogenesis; interferon-gamma-mediated signaling pathway; inhibitory G-protein coupled receptor phosphorylation; G1/S transition of mitotic cell cycle | 7p14.3-p14.1 |
| CAMK2D | cardiac muscle contraction; protein autophosphorylation; cytokine-mediated signaling pathway; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; positive regulation of cardiac muscle hypertrophy; regulation of heart contraction; synaptic transmission; calcium ion transport; protein phosphorylation; regulation of cell growth; G1/S transition of mitotic cell cycle; regulation of ryanodine-sensitive calcium-release channel activity; regulation of cellular localization; interferon-gamma-mediated signaling pathway | 4q26 |
| CAMK2G | multicellular organismal development; interferon-gamma-mediated signaling pathway; regulation of calcium ion transport; cell differentiation; insulin secretion; cytokine-mediated signaling pathway; regulation of skeletal muscle adaptation; nervous system development; synaptic transmission; protein phosphorylation | 10q22 |
| CAMK2N1 | negative regulation of phosphorylation; negative regulation of catalytic activity | 1p36.12 |
| CAMK2N2 | - | 3q27.1 |
| CAMK4 | myeloid dendritic cell cytokine production; protein phosphorylation; inflammatory response; signal transduction; epidermal growth factor receptor signaling pathway; synaptic transmission; activation of phospholipase C activity; fibroblast growth factor receptor signaling pathway; regulation of T cell differentiation in thymus; myeloid dendritic cell differentiation; regulation of osteoclast differentiation; positive regulation of transcription, DNA-dependent; nerve growth factor receptor signaling pathway; long-term memory | 5q21.3 |
| CAMKK1 | synaptic transmission | 17p13.2 |
| CAMKK2 | protein autophosphorylation; positive regulation of transcription, DNA-dependent; regulation of protein kinase activity; calcium-mediated signaling; protein phosphorylation; MAPK cascade | 12q24.2 |
| CAMKMT | - | 2p21 |
| CAMKV | - | 3p21.31 |
| CAMLG | receptor recycling; defense response; signal transduction; epidermal growth factor receptor signaling pathway | 5q23 |
| CAMP | defense response to Gram-positive bacterium; killing by host of symbiont cells; defense response to bacterium; negative regulation of growth of symbiont in host; negative regulation of growth of symbiont on or near host surface; defense response to Gram-negative bacterium | 3p21.3 |
| CAMSAP1 | regulation of cell morphogenesis; cytoskeleton organization | 9q34.3 |
| CAMSAP2 | - | 1q32.1 |
| CAMSAP3 | negative regulation of phosphatase activity; microtubule anchoring; epithelial cell-cell adhesion; regulation of microtubule cytoskeleton organization; zonula adherens maintenance | 19p13.2 |
| CAMTA1 | regulation of transcription, DNA-dependent | 1p36.31-p36.23 |
| CAMTA1-IT1 | - | - |
| CAMTA2 | positive regulation of transcription from RNA polymerase II promoter; cardiac muscle hypertrophy in response to stress; regulation of transcription from RNA polymerase II promoter | 17p13.2 |
| CAND1 | regulation of transcription, DNA-dependent; protein ubiquitination; negative regulation of catalytic activity; cell differentiation | 12q14 |
| CAND1.11 | - | 11p15.4 |
| CAND2 | positive regulation of transcription, DNA-dependent | 3p25.2 |
| CANT1 | signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 17q25.3 |
| CANX | antigen processing and presentation of peptide antigen via MHC class I; protein folding; protein secretion; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 5q35 |
| CAP1 | establishment or maintenance of cell polarity; cytoskeleton organization; receptor-mediated endocytosis; platelet degranulation; ameboidal cell migration; cell morphogenesis; signal transduction; activation of adenylate cyclase activity; axon guidance; blood coagulation; actin cytoskeleton organization; platelet activation | 1p34.2 |
| CAP1P1 | - | 3p12.3 |
| CAP1P2 | - | 10q11.21 |
| CAP2 | activation of adenylate cyclase activity; axon guidance; cell morphogenesis; cytoskeleton organization; establishment or maintenance of cell polarity; signal transduction | 6p22.3 |
| CAP2P1 | - | 14q31.3 |
| CAPG | protein complex assembly; cell projection assembly; barbed-end actin filament capping | 2p11.2 |
| CAPN1 | proteolysis; positive regulation of cell proliferation | 11q13 |
| CAPN10 | positive regulation of insulin secretion; positive regulation of intracellular transport; cellular response to insulin stimulus; actin cytoskeleton reorganization; positive regulation of apoptotic process; positive regulation of glucose import; proteolysis | 2q37.3 |
| CAPN10-AS1 | - | 2q37.3 |
| CAPN11 | proteolysis | 6p12 |
| CAPN12 | proteolysis | 19q13.2 |
| CAPN13 | proteolysis | 2p22-p21 |
| CAPN14 | proteolysis | 2p23.1-p21 |
| CAPN15 | - | 16p13.3 |
| CAPN2 | response to hypoxia; blastocyst development; proteolysis; myoblast fusion | 1q41-q42 |
| CAPN3 | sarcomere organization; regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of apoptotic process; response to drug; negative regulation of protein sumoylation; myofibril assembly; positive regulation of proteolysis; response to muscle activity; cellular response to calcium ion; protein localization in membrane; cellular response to salt stress; muscle structure development; response to calcium ion; positive regulation of release of sequestered calcium ion into cytosol; positive regulation of NF-kappaB transcription factor activity; regulation of catalytic activity; muscle cell homeostasis; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; muscle organ development; signal transduction; apoptotic process; proteolysis; protein complex assembly; autolysis; positive regulation of satellite cell activation involved in skeletal muscle regeneration | 15q15.1 |
| CAPN5 | luteinization; granulosa cell differentiation; signal transduction; proteolysis; ovarian follicle development | 11q14 |
| CAPN6 | regulation of cytoskeleton organization; microtubule bundle formation; proteolysis | Xq23 |
| CAPN7 | proteolysis | 3p24 |
| CAPN8 | proteolysis | 1q41 |
| CAPN9 | proteolysis; digestion | 1q42.11-q42.3 |
| CAPNS1 | proteolysis; metabolic process; positive regulation of cell proliferation | 19q13.12 |
| CAPNS1P1 | - | 1p22.2 |
| CAPNS2 | - | 16q12.2 |
| CAPRIN1 | negative regulation of translation; cell differentiation; positive regulation of dendrite morphogenesis; positive regulation of dendritic spine morphogenesis | 11p13 |
| CAPRIN2 | cell differentiation; positive regulation of canonical Wnt receptor signaling pathway; positive regulation of dendritic spine morphogenesis; positive regulation of dendrite morphogenesis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of cell growth; positive regulation of protein binding; positive regulation of peptidyl-serine phosphorylation; negative regulation of translation; regulation of growth | 12p11 |
| CAPS | intracellular signal transduction | 19p13.3 |
| CAPS2 | - | 12q14.1 |
| CAPSL | - | 5p13.2 |
| CAPZA1 | innate immune response; actin cytoskeleton organization; blood coagulation; cellular component movement; protein complex assembly; actin filament capping | 1p13.2 |
| CAPZA1P | - | Xq21.3 |
| CAPZA2 | actin filament capping; innate immune response; actin cytoskeleton organization; cellular component movement; blood coagulation; protein complex assembly | 7q31.2-q31.3 |
| CAPZB | cellular component movement; cytoskeleton organization; blood coagulation; regulation of cell morphogenesis; cell projection organization; lamellipodium assembly; actin cytoskeleton organization; actin filament capping | 1p36.1 |
| CARD10 | protein complex assembly; activation of NF-kappaB-inducing kinase activity; regulation of apoptotic process | 22q13.1 |
| CARD11 | positive regulation of cytokine production; positive regulation of NF-kappaB transcription factor activity; T cell receptor signaling pathway; regulation of immune response; regulation of T cell differentiation; regulation of B cell differentiation; positive regulation of interleukin-2 biosynthetic process; thymic T cell selection; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; positive regulation of T cell proliferation; T cell costimulation; positive regulation of B cell proliferation; signal transduction | 7p22 |
| CARD14 | positive regulation of protein phosphorylation; activation of NF-kappaB-inducing kinase activity; regulation of apoptotic process | 17q25 |
| CARD16 | regulation of apoptotic process | - |
| CARD17 | regulation of apoptotic process; proteolysis | 11q22.3 |
| CARD18 | inflammatory response; regulation of apoptotic process | 11q22.3 |
| CARD19 | negative regulation of I-kappaB kinase/NF-kappaB cascade | 9q22.31 |
| CARD6 | regulation of apoptotic process | 5p13.1 |
| CARD8 | activation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of apoptotic process; positive regulation of interleukin-1 beta secretion; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of I-kappaB kinase/NF-kappaB cascade | 19q13.33 |
| CARD8-AS1 | - | - |
| CARD9 | response to muramyl dipeptide; positive regulation of innate immune response; regulation of tumor necrosis factor biosynthetic process; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; response to exogenous dsRNA; regulation of interleukin-2 biosynthetic process; response to drug; innate immune response; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; regulation of interleukin-6 biosynthetic process; positive regulation of JNK cascade; defense response to Gram-positive bacterium; positive regulation of stress-activated MAPK cascade; positive regulation of tumor necrosis factor production; defense response to virus; response to fungus; nucleotide-binding oligomerization domain containing signaling pathway; positive regulation of interleukin-6 production | 9q34.3 |
| CARF | - | 2q33.2 |
| CARHSP1 | regulation of transcription, DNA-dependent; regulation of mRNA stability; intracellular signal transduction | 16p13.2 |
| CARKD | - | 13q34 |
| CARM1 | peptidyl-arginine N-methylation; regulation of growth plate cartilage chondrocyte proliferation; regulation of transcription, DNA-dependent; positive regulation of cell proliferation; chromatin modification; histone methylation; peptidyl-arginine methylation, to asymmetrical-dimethyl arginine; intracellular steroid hormone receptor signaling pathway; negative regulation of protein binding; regulation of intracellular estrogen receptor signaling pathway; histone H3-R2 methylation; histone H3-R17 methylation; endochondral bone morphogenesis; cellular lipid metabolic process; small molecule metabolic process; pathogenesis; interspecies interaction between organisms; positive regulation of fat cell differentiation; response to cAMP | 19p13.2 |
| CARM1P1 | - | 9p24.2 |
| CARMN | - | 5q32 |
| CARNMT1 | - | 9q21.13 |
| CARNS1 | carnosine biosynthetic process | 11q13.2 |
| CARS | gene expression; cysteinyl-tRNA aminoacylation; tRNA aminoacylation for protein translation | 11p15.5 |
| CARS2 | tRNA aminoacylation for protein translation; cysteinyl-tRNA aminoacylation; gene expression | 13q34 |
| CARTPT | circadian regulation of gene expression; positive regulation of epinephrine secretion; somatostatin secretion; neuropeptide signaling pathway; cell-cell signaling; synaptic transmission; adult feeding behavior; cellular response to starvation; negative regulation of appetite; negative regulation of osteoclast differentiation; positive regulation of blood pressure; negative regulation of bone resorption; negative regulation of glucagon secretion; regulation of bone remodeling; G-protein coupled receptor signaling pathway; signal transduction; cellular glucose homeostasis; activation of MAPKK activity; regulation of insulin secretion; positive regulation of transmission of nerve impulse | 5q13.2 |
| CASC1 | - | 12p12.1 |
| CASC10 | - | 10p12.31 |
| CASC15 | - | 6p22.3 |
| CASC18 | - | - |
| CASC2 | - | 10q26.11 |
| CASC20 | - | - |
| CASC21 | - | 8q24.21 |
| CASC3 | intracellular mRNA localization; mRNA transport; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; gene expression; mRNA processing; regulation of translation; transport; response to stress; RNA splicing; RNA metabolic process; mRNA metabolic process | 17q21.1 |
| CASC4 | - | 15q15.3 |
| CASC4P1 | - | - |
| CASC5 | chromosome segregation; M phase of mitotic cell cycle; mitotic prometaphase; spindle assembly checkpoint; mitotic cell cycle; cell division; CenH3-containing nucleosome assembly at centromere; negative regulation of phosphatase activity; acrosome assembly; nucleosome assembly; attachment of spindle microtubules to kinetochore | 15q14 |
| CASC7 | - | 8q24.3 |
| CASC9 | - | 8q21.11 |
| CASD1 | - | 7q21.3 |
| CASK | negative regulation of cellular response to growth factor stimulus; negative regulation of cell-matrix adhesion; cell adhesion; negative regulation of keratinocyte proliferation; negative regulation of wound healing | Xp11.4 |
| CASKIN1 | signal transduction | 16p13.3 |
| CASKIN2 | - | 17q25.1 |
| CASP1 | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; signal transduction; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; proteolysis; regulation of apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; innate immune response; cellular response to mechanical stimulus; cellular response to organic substance | 11q23 |
| CASP10 | innate immune response; apoptotic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; induction of apoptosis by extracellular signals; induction of apoptosis; proteolysis | 2q33-q34 |
| CASP12 | regulation of apoptotic process; proteolysis | 11q22.3 |
| CASP14 | proteolysis; apoptotic process; induction of apoptosis; epidermis development; cell differentiation | 19p13.1 |
| CASP16 | proteolysis | 16p13.3 |
| CASP1P1 | - | - |
| CASP1P2 | - | 11q22.3 |
| CASP2 | apoptotic signaling pathway; execution phase of apoptosis; cellular response to mechanical stimulus; nerve growth factor receptor signaling pathway; positive regulation of neuron apoptosis; positive regulation of apoptotic process; protein processing; induction of apoptosis by extracellular signals; aging; metabolic process; luteolysis; neural retina development; proteolysis; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; brain development | 7q34-q35 |
| CASP3 | regulation of apoptotic process; response to UV; response to wounding; protein processing; keratinocyte differentiation; nuclear fragmentation involved in apoptotic nuclear change; negative regulation of B cell proliferation; response to tumor necrosis factor; negative regulation of phosphorylation; T cell homeostasis; negative regulation of apoptotic process; positive regulation of neuron apoptosis; cell fate commitment; negative regulation of cyclin-dependent protein kinase activity; negative regulation of activated T cell proliferation; nerve growth factor receptor signaling pathway; induction of apoptosis by oxidative stress; B cell homeostasis; release of cytochrome c from mitochondria; DNA fragmentation involved in apoptotic nuclear change; proteolysis; apoptotic process; induction of apoptosis; cellular component disassembly involved in apoptosis; response to DNA damage stimulus; heart development; sensory perception of sound; induction of apoptosis by extracellular signals; induction of apoptosis via | 4q34 |
| CASP3P1 | - | 1p31.1 |
| CASP4 | regulation of apoptotic process; apoptotic process; proteolysis; induction of apoptosis | 11q22.2-q22.3 |
| CASP5 | proteolysis; apoptotic process; regulation of apoptotic process; cellular response to mechanical stimulus | 11q22.2-q22.3 |
| CASP6 | response to cytokine stimulus; positive regulation of retinal cell programmed cell death; positive regulation of neuron apoptosis; response to hydrogen peroxide; response to testosterone stimulus; response to estradiol stimulus; response to gamma radiation; response to organic nitrogen; response to glucose stimulus; response to heat; cellular component disassembly involved in apoptosis; induction of apoptosis; apoptotic process; proteolysis; acute inflammatory response to non-antigenic stimulus; lens development in camera-type eye; response to iron ion | 4q25 |
| CASP7 | induction of apoptosis; positive regulation of neuron apoptosis; protein processing; response to UV; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; induction of apoptosis by intracellular signals; aging; heart development; cellular component disassembly involved in apoptosis; apoptotic process; proteolysis; release of cytochrome c from mitochondria | 10q25 |
| CASP8 | angiogenesis; neural tube formation; proteolysis; apoptotic process; cellular component disassembly involved in apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; extrinsic apoptotic signaling pathway; cellular response to mechanical stimulus; nucleotide-binding oligomerization domain containing signaling pathway; proteolysis involved in cellular protein catabolic process; protein heterooligomerization; response to antibiotic; response to ethanol; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of apoptotic process; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; response to lipopolysaccharide; heart development; metabolic process; induction of apoptosis by extracellular signals; induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; response to cold; macrophage differentiation; response to cobalt ion; response to estradiol stimulus; response to tumo | 2q33-q34 |
| CASP8AP2 | cellular response to mechanical stimulus; induction of apoptosis via death domain receptors; induction of apoptosis by extracellular signals; signal transduction; cell cycle; activation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of transcription, DNA-dependent | 6q15 |
| CASP9 | regulation of apoptotic process; cellular response to dexamethasone stimulus; phosphatidylinositol-mediated signaling; nerve growth factor receptor signaling pathway; positive regulation of neuron apoptosis; response to UV; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; fibroblast growth factor receptor signaling pathway; proteolysis; epidermal growth factor receptor signaling pathway; response to DNA damage stimulus; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; induction of apoptosis by intracellular signals | 1p36.21 |
| CASQ1 | response to organic substance; regulation of sequestering of calcium ion; response to denervation involved in regulation of muscle adaptation; regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion; response to heat; skeletal muscle tissue development; endoplasmic reticulum organization | 1q21 |
| CASQ2 | striated muscle contraction; heart development | 1p13.1 |
| CASR | cellular calcium ion homeostasis; calcium ion import; calcium-mediated signaling; anatomical structure morphogenesis; chemosensory behavior; G-protein coupled receptor signaling pathway; detection of calcium ion; ossification | 3q13 |
| CASS4 | cell adhesion | 20q13.31 |
| CAST | negative regulation of endopeptidase activity | 5q15 |
| CASZ1 | regulation of transcription, DNA-dependent | 1p36.22 |
| CAT | purine base metabolic process; cellular response to growth factor stimulus; response to hyperoxia; nucleobase-containing small molecule metabolic process; positive regulation of cell division; protein tetramerization; positive regulation of NF-kappaB transcription factor activity; small molecule metabolic process; negative regulation of apoptotic process; hydrogen peroxide catabolic process; menopause; negative regulation of NF-kappaB transcription factor activity; response to reactive oxygen species; response to hypoxia; response to vitamin E; purine nucleotide catabolic process; triglyceride metabolic process; aging; aerobic respiration; UV protection; positive regulation of phosphatidylinositol 3-kinase cascade; hemoglobin metabolic process; cholesterol metabolic process | 11p13 |
| CATIP | - | 2q35 |
| CATIP-AS1 | - | 2q35 |
| CATSPER1 | multicellular organismal development; sperm motility; transmembrane transport; cell differentiation; fusion of sperm to egg plasma membrane; spermatogenesis; ion transport; ciliary or flagellar motility | 11q12.1 |
| CATSPER2 | transmembrane transport; cell differentiation; spermatogenesis; multicellular organismal development; ion transport | 15q15.3 |
| CATSPER2P1 | - | 15q15.3 |
| CATSPER3 | ion transport; multicellular organismal development; spermatogenesis; cell differentiation; transmembrane transport | 5q31.1 |
| CATSPERB | spermatogenesis; cell differentiation; multicellular organismal development | 14q32.12 |
| CATSPERD | - | 19p13.3 |
| CATSPERG | multicellular organismal development; spermatogenesis; cell differentiation | 19q13.1 |
| CATX-1 | - | - |
| CAV1 | positive regulation of peptidyl-serine phosphorylation; positive regulation of metalloenzyme activity; negative regulation of JAK-STAT cascade; nitric oxide metabolic process; positive regulation of vasoconstriction; positive regulation of endocytosis; positive regulation of anti-apoptosis; negative regulation of nitric oxide biosynthetic process; interspecies interaction between organisms; small molecule metabolic process; response to estrogen stimulus; negative regulation of MAPK cascade; cholesterol homeostasis; negative regulation of tyrosine phosphorylation of Stat5 protein; response to drug; nitric oxide homeostasis; cholesterol efflux; caveola assembly; leukocyte migration; positive regulation of intrinsic apoptotic signaling pathway; positive regulation of extrinsic apoptotic signaling pathway; receptor internalization involved in canonical Wnt receptor signaling pathway; positive regulation of canonical Wnt receptor signaling pathway; negative regulation of canonical Wnt receptor signaling pathway; c | 7q31.1 |
| CAV2 | vesicle docking; caveola assembly; positive regulation of dopamine receptor signaling pathway; protein oligomerization; skeletal muscle fiber development; vesicle organization; synaptic transmission; regulation of mitosis; endoplasmic reticulum organization; mitochondrion organization; vesicle fusion; negative regulation of endothelial cell proliferation; negative regulation of cell proliferation | 7q31.1 |
| CAV3 | T-tubule organization; regulation of membrane potential; glucose homeostasis; cholesterol homeostasis; negative regulation of MAP kinase activity; negative regulation of MAPK cascade; negative regulation of cell size; muscle cell homeostasis; negative regulation of nitric-oxide synthase activity; regulation of calcium ion transport via voltage-gated calcium channel activity; regulation of cardiac muscle contraction; negative regulation of sarcomere organization; regulation of ventricular cardiomyocyte membrane repolarization; positive regulation of microtubule polymerization; membrane raft organization; negative regulation of protein kinase activity; triglyceride metabolic process; endocytosis; elevation of cytosolic calcium ion concentration; muscle organ development; protein localization; negative regulation of cardiac muscle hypertrophy; regulation of skeletal muscle contraction; cell growth; cell differentiation; regulation of heart contraction | 3p25 |
| CBARP | - | 19p13.3 |
| CBFA2T2 | epithelial cell differentiation; positive regulation of neuron projection development; negative regulation of neuron projection development; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter | 20q11 |
| CBFA2T3 | granulocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; cell differentiation; cell proliferation | 16q24 |
| CBFB | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 16q22.1 |
| CBL | positive regulation of phosphatidylinositol 3-kinase cascade; positive regulation of receptor-mediated endocytosis; negative regulation of apoptotic process; negative regulation of epidermal growth factor receptor signaling pathway; regulation of signaling; protein ubiquitination; regulation of transcription, DNA-dependent; cell surface receptor signaling pathway; fibroblast growth factor receptor signaling pathway; epidermal growth factor receptor signaling pathway | 11q23.3 |
| CBLB | regulation of signaling; negative regulation of T cell receptor signaling pathway; negative regulation of alpha-beta T cell proliferation; positive regulation of protein catabolic process; T cell activation; intracellular signal transduction; response to hormone stimulus; response to gravity; cell surface receptor signaling pathway; signal transduction; immune response; NLS-bearing substrate import into nucleus; positive regulation of T cell anergy | 3q13.11 |
| CBLC | negative regulation of epidermal growth factor-activated receptor activity; regulation of signaling; negative regulation of epidermal growth factor receptor signaling pathway; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; cell surface receptor signaling pathway; negative regulation of MAP kinase activity | 19q13.2 |
| CBLL1 | negative regulation of cell adhesion; positive regulation of endocytosis; cell-cell adhesion; protein ubiquitination; positive regulation of cell migration | 7q22.3 |
| CBLN1 | synaptic transmission; nervous system development | 16q12.1 |
| CBLN2 | - | 18q22.3 |
| CBLN3 | - | 14q12 |
| CBR1 | oxidation-reduction process; drug metabolic process; vitamin K metabolic process | 21q22.13 |
| CBR3 | phylloquinone catabolic process | 21q22.2 |
| CBR3-AS1 | - | - |
| CBR4 | fatty acid biosynthetic process; antibiotic metabolic process; protein homotetramerization | 4q32.3 |
| CBS | regulation of blood vessel size; hydrogen sulfide biosynthetic process; cartilage development involved in endochondral bone morphogenesis; maternal process involved in female pregnancy; response to folic acid; homocysteine metabolic process; small molecule metabolic process; regulation of JUN kinase activity; homocysteine catabolic process; cellular nitrogen compound metabolic process; response to nutrient levels; regulation of cGMP metabolic process; L-cysteine catabolic process; cerebellum morphogenesis; sulfur amino acid metabolic process; endochondral ossification; blood vessel remodeling; cysteine biosynthetic process from serine; L-serine metabolic process; L-serine catabolic process; superoxide metabolic process; cellular amino acid biosynthetic process; cysteine biosynthetic process via cystathionine; transsulfuration | 21q22.3 |
| CBWD1 | - | 9p24.3 |
| CBWD3 | - | 9q13 |
| CBWD5 | - | 9q21.11 |
| CBWD6 | - | 9q21.11 |
| CBX1 | negative regulation of transcription, DNA-dependent | 17q21.32 |
| CBX1P1 | - | Xq11.1 |
| CBX1P3 | - | 1q32.1 |
| CBX2 | chromatin modification; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; development of primary sexual characteristics; cell differentiation | 17q25.3 |
| CBX3 | negative regulation of transcription, DNA-dependent; chromatin remodeling | 7p15.2 |
| CBX3P1 | - | 11p14.1 |
| CBX3P2 | - | 18p11.32 |
| CBX3P4 | - | - |
| CBX3P7 | - | - |
| CBX3P8 | - | 11p11.12 |
| CBX4 | negative regulation of transcription, DNA-dependent; chromatin modification; negative regulation of transcription from RNA polymerase II promoter; anti-apoptosis | 17q25.3 |
| CBX5 | negative regulation of transcription, DNA-dependent; blood coagulation; interspecies interaction between organisms | 12q13.13 |
| CBX6 | regulation of transcription, DNA-dependent; chromatin modification; negative regulation of transcription from RNA polymerase II promoter | 22q13.1 |
| CBX7 | regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; chromatin modification | 22q13.1 |
| CBX8 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; chromatin modification; histone ubiquitination | 17q25.3 |
| CBY1 | cardiac muscle cell differentiation; negative regulation of transcription, DNA-dependent; negative regulation of canonical Wnt receptor signaling pathway; fat cell differentiation; cilium assembly; protein localization; negative regulation of Wnt receptor signaling pathway | 22q12 |
| CC2D1A | regulation of transcription, DNA-dependent; signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 19p13.12 |
| CC2D1B | regulation of transcription, DNA-dependent | 1p32.3 |
| CC2D2A | cilium morphogenesis; cilium assembly; smoothened signaling pathway; cell projection organization | 4p15.32 |
| CC2D2B | - | 10q24.1 |
| CCAR1 | RNA splicing; apoptotic process; cell cycle; regulation of transcription, DNA-dependent; nuclear mRNA splicing, via spliceosome; gene expression | 10q21.3 |
| CCAR2 | apoptotic process; positive regulation of apoptotic process; negative regulation of catalytic activity | 8p22 |
| CCAT1 | - | - |
| CCBE1 | lymphangiogenesis; sprouting angiogenesis; multicellular organismal development; venous blood vessel morphogenesis | 18q21.32 |
| CCBL1 | kynurenine metabolic process; small molecule metabolic process; L-phenylalanine catabolic process; tryptophan catabolic process; cellular modified amino acid metabolic process; cellular amino acid biosynthetic process; biosynthetic process; cellular nitrogen compound metabolic process | 9q34.11 |
| CCBL2 | cellular amino acid metabolic process; small molecule metabolic process; cellular nitrogen compound metabolic process; biosynthetic process; tryptophan catabolic process; kynurenine metabolic process | 1p22.2 |
| CCDC102A | - | 16q21 |
| CCDC102B | - | 18q22.1 |
| CCDC106 | - | 19q13.42 |
| CCDC107 | - | 9p13.3 |
| CCDC109B | - | 4q25 |
| CCDC110 | - | 4q35.1 |
| CCDC112 | - | 5q22.3 |
| CCDC113 | - | 16q21 |
| CCDC114 | - | 19q13.33 |
| CCDC115 | - | 2q21.1 |
| CCDC116 | - | 22q11.21 |
| CCDC117 | - | 22q12.1 |
| CCDC11P1 | - | 5p13.1 |
| CCDC12 | - | 3p21.31 |
| CCDC120 | - | Xp11.23 |
| CCDC121 | - | 2p23.3 |
| CCDC122 | - | 13q14.11 |
| CCDC124 | - | 19p13.11 |
| CCDC125 | - | 5q13.2 |
| CCDC126 | - | 7p15.3 |
| CCDC127 | - | 5p15.33 |
| CCDC129 | - | 7p14.3 |
| CCDC13 | - | 3p22.1 |
| CCDC130 | response to virus | 19p13.2 |
| CCDC134 | - | 22q13.2 |
| CCDC136 | - | 7q33 |
| CCDC137 | - | 17q25.3 |
| CCDC138 | - | 2q12.3 |
| CCDC14 | - | 3q21.1 |
| CCDC140 | - | 2q36.1 |
| CCDC141 | - | 2q31.2 |
| CCDC142 | - | 2p13.1 |
| CCDC144A | - | 17p11.2 |
| CCDC144CP | - | 17p11.2 |
| CCDC144NL | - | 17p11.2 |
| CCDC146 | - | 7q11.23 |
| CCDC147-AS1 | - | - |
| CCDC148 | - | 2q24.1 |
| CCDC148-AS1 | - | 2q24.1 |
| CCDC149 | - | 4p15.2 |
| CCDC15 | - | 11q24.2 |
| CCDC150 | - | 2q33.1 |
| CCDC151 | - | 19p13.2 |
| CCDC152 | - | 5p12 |
| CCDC153 | - | 11q23.3 |
| CCDC154 | - | 16p13.3 |
| CCDC155 | protein dephosphorylation | 19q13.33 |
| CCDC157 | - | 22q12.2 |
| CCDC158 | - | 4q21.1 |
| CCDC159 | - | 19p13.2 |
| CCDC160 | - | Xq26.2 |
| CCDC162P | - | 6q21 |
| CCDC163P | - | 1p34.1 |
| CCDC166 | - | 8q24.3 |
| CCDC167 | - | 6p21.2 |
| CCDC168 | - | 13q33.1 |
| CCDC169 | - | 13q13.3 |
| CCDC17 | - | 1p34.1 |
| CCDC170 | - | 6q25.1 |
| CCDC171 | - | 9p22.3 |
| CCDC172 | - | 10q25.3 |
| CCDC173 | - | 2q31.1 |
| CCDC174 | - | 3p25.1 |
| CCDC175 | - | 14q23.1 |
| CCDC177 | - | 14q24.1 |
| CCDC178 | - | 18q12.1 |
| CCDC179 | - | 11p14.2 |
| CCDC18 | - | 1p22.1 |
| CCDC18-AS1 | - | 1p22.1 |
| CCDC180 | - | 9q22.33 |
| CCDC181 | - | 1q24 |
| CCDC182 | - | - |
| CCDC183 | - | 9q34.3 |
| CCDC183-AS1 | - | 9q34.3 |
| CCDC184 | - | 12q13.11 |
| CCDC186 | - | 10q25.3 |
| CCDC188 | - | 22q11.21 |
| CCDC189 | - | 16p11.2 |
| CCDC190 | - | 1q23.3 |
| CCDC191 | - | 3q13.31 |
| CCDC22 | - | Xp11.23 |
| CCDC24 | - | 1p34.1 |
| CCDC25 | - | 8p21.1 |
| CCDC26 | - | 8q24.21 |
| CCDC27 | - | 1p36.32 |
| CCDC28A | - | 6q23.1-q24.1 |
| CCDC28B | - | 1p36.11-p34.2 |
| CCDC3 | - | 10p13 |
| CCDC30 | - | 1p34.2 |
| CCDC33 | - | 15q24.1 |
| CCDC34 | - | 11p14.1 |
| CCDC36 | - | 3p21.31 |
| CCDC38 | - | 12q23.1 |
| CCDC39 | axonemal dynein complex assembly; epithelial cilium movement involved in determination of left/right asymmetry; flagellar cell motility; ciliary cell motility | 3q26.33 |
| CCDC39-AS1 | - | - |
| CCDC40 | ciliary cell motility; flagellar cell motility; epithelial cilium movement involved in determination of left/right asymmetry; axonemal dynein complex assembly | 17q25.3 |
| CCDC43 | - | 17q21.31 |
| CCDC47 | post-embryonic development; calcium ion homeostasis; embryo development; ER overload response | 17q23.3 |
| CCDC50 | - | 3q28 |
| CCDC51 | - | 3p21.31 |
| CCDC53 | - | 12q23.2 |
| CCDC57 | - | 17q25.3 |
| CCDC58 | - | 3q21.1 |
| CCDC58P1 | - | 18p11.22 |
| CCDC58P3 | - | 18p11.21 |
| CCDC59 | regulation of transcription, DNA-dependent | 12q21.31 |
| CCDC6 | - | 10q21 |
| CCDC60 | - | 12q24.23 |
| CCDC61 | - | 19q13.32 |
| CCDC62 | - | 12q24.31 |
| CCDC63 | - | 12q24.11 |
| CCDC64 | transport; neuron projection development; nervous system development; Golgi to secretory granule transport | 12q24.23 |
| CCDC64B | - | 16p13.3 |
| CCDC65 | - | 12q13.12 |
| CCDC66 | - | 3p14.3 |
| CCDC67 | - | 11q21 |
| CCDC68 | - | 18q21 |
| CCDC69 | - | 5q33.1 |
| CCDC7 | - | 10p11.22 |
| CCDC70 | - | 13q14.3 |
| CCDC71 | - | 3p21.31 |
| CCDC71L | - | 7q22.3 |
| CCDC73 | - | 11p13 |
| CCDC74A | - | 2q21.1 |
| CCDC74B | - | 2q21.1 |
| CCDC75P1 | - | 3p13 |
| CCDC77 | - | 12p13.33 |
| CCDC78 | - | 16p13.3 |
| CCDC79 | regulation of transcription, DNA-dependent | 16q22.1 |
| CCDC8 | negative regulation of phosphatase activity | 19q13.32 |
| CCDC80 | positive regulation of cell-substrate adhesion; extracellular matrix organization | 3q13.2 |
| CCDC81 | - | 11q14.2 |
| CCDC82 | - | 11q21 |
| CCDC83 | - | 11q14.1-q14.2 |
| CCDC84 | - | 11q23.3 |
| CCDC85A | - | 2p16.1 |
| CCDC85B | regulation of growth; negative regulation of fat cell differentiation; negative regulation of transcription, DNA-dependent; negative regulation of cell growth; cell differentiation | 11q12.1 |
| CCDC85C | cerebral cortex development | 14q32.31 |
| CCDC86 | interspecies interaction between organisms | 11q12.2 |
| CCDC87 | - | 11q13.2 |
| CCDC88A | regulation of cell proliferation; microtubule cytoskeleton organization; regulation of protein phosphorylation; regulation of DNA replication; nervous system development; regulation of neuron projection development; cellular membrane organization; cell migration; lamellipodium assembly; TOR signaling cascade; activation of protein kinase B activity; regulation of actin cytoskeleton organization | 2p16.1 |
| CCDC88B | microtubule cytoskeleton organization | 11q12.3 |
| CCDC88C | microtubule cytoskeleton organization; regulation of protein phosphorylation; Wnt receptor signaling pathway; protein destabilization; protein homooligomerization | 14q32.11 |
| CCDC89 | - | 11q14.1 |
| CCDC9 | - | 19q13.32 |
| CCDC90B | - | 11q14.1 |
| CCDC91 | protein transport | 12p11.22 |
| CCDC92 | - | 12q24.31 |
| CCDC93 | - | 2q14.1 |
| CCDC94 | - | 19p13.3 |
| CCDC97 | - | 19q13.2 |
| CCER1 | - | 12q21.33 |
| CCER2 | - | 19q13.2 |
| CCHCR1 | multicellular organismal development; cell differentiation | 6p21.3 |
| CCIN | cell differentiation; spermatogenesis; multicellular organismal development | 9p13.3 |
| CCK | behavioral fear response; neuron migration; release of cytochrome c from mitochondria; activation of cysteine-type endopeptidase activity involved in apoptotic process; signal transduction; axonogenesis; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; positive regulation of cell proliferation; negative regulation of appetite; positive regulation of protein oligomerization; eating behavior; positive regulation of apoptotic process; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of mitochondrial depolarization; regulation of sensory perception of pain | 3p22.1 |
| CCKAR | regulation of hormone secretion; actin cytoskeleton reorganization; regulation of potassium ion transport; response to starvation; cellular response to hormone stimulus; response to lipopolysaccharide; feeding behavior; response to radiation; response to heat; insulin secretion; pancreatic juice secretion; forebrain development; pancreas development; organ regeneration; response to steroid hormone stimulus; response to glucocorticoid stimulus; positive regulation of calcium ion transport via voltage-gated calcium channel activity; positive regulation of somatostatin secretion; digestion; response to nutrient; axonogenesis; elevation of cytosolic calcium ion concentration; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; reduction of food intake in response to dietary excess; neuron migration; gastric acid secretion; temperature homeostasis | 4p15.1-p15.2 |
| CCKBR | positive regulation of somatostatin secretion; sensory perception; histamine secretion; positive regulation of cell proliferation; behavioral defense response; apoptotic process; cell surface receptor signaling pathway; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; elevation of cytosolic calcium ion concentration; digestion; feeding behavior; positive regulation of synaptic transmission, GABAergic; response to insulin stimulus; regulation of sensory perception of pain; positive regulation of synaptic transmission, glutamatergic; estrous cycle phase; ERK1 and ERK2 cascade; cell proliferation | 11p15.4 |
| CCL1 | signal transduction; viral reproduction; chemotaxis; cellular calcium ion homeostasis; immune response | 17q12 |
| CCL11 | cell adhesion; positive regulation of endothelial cell proliferation; actin filament organization; cytoskeleton organization; immune response; inflammatory response; chemotaxis; cellular calcium ion homeostasis; protein phosphorylation; mast cell chemotaxis; chronic inflammatory response; positive regulation of angiogenesis; signal transduction; regulation of cell shape; response to radiation; response to virus; positive regulation of cell migration; positive regulation of actin filament polymerization; positive regulation of Rac GTPase activity; eosinophil chemotaxis; branching involved in mammary gland duct morphogenesis; mammary duct terminal end bud growth; ERK1 and ERK2 cascade; response to interleukin-4 | 17q12 |
| CCL13 | cellular calcium ion homeostasis; chemotaxis; inflammatory response; immune response; cytoskeleton organization; signal transduction; cell-cell signaling; regulation of cell shape; eosinophil chemotaxis | 17q11.2 |
| CCL14 | immune response; cellular calcium ion homeostasis; positive regulation of cell proliferation | 17q11.2 |
| CCL15 | cellular calcium ion homeostasis; chemotaxis; immune response; signal transduction; cell-cell signaling; positive chemotaxis | 17q11.2 |
| CCL15-CCL14 | - | 17q12 |
| CCL17 | chemotaxis; inflammatory response; immune response; G-protein coupled receptor signaling pathway; cell-cell signaling; multicellular organismal development | 16q13 |
| CCL18 | immune response; response to biotic stimulus; cell-cell signaling; signal transduction; cell communication; inflammatory response; chemotaxis | 17q11.2 |
| CCL19 | inflammatory response; establishment of T cell polarity; immunological synapse formation; dendritic cell chemotaxis; myeloid dendritic cell chemotaxis; positive regulation of dendritic cell antigen processing and presentation; cellular calcium ion homeostasis; positive regulation of protein kinase B signaling cascade; positive regulation of endocytosis; positive regulation of protein kinase activity; positive regulation of JNK cascade; positive regulation of receptor-mediated endocytosis; cell maturation; positive regulation of interleukin-1 beta secretion; positive regulation of chemotaxis; release of sequestered calcium ion into cytosol; immune response; regulation of cell projection assembly; positive regulation of ERK1 and ERK2 cascade; response to nitric oxide; interleukin-12 secretion; positive regulation of neutrophil chemotaxis; negative regulation of leukocyte apoptosis; positive regulation of cell motility; positive regulation of phosphatidylinositol 3-kinase activity; cell communication; activation | 9p13 |
| CCL2 | neutrophil chemotaxis; response to amino acid stimulus; response to drug; helper T cell extravasation; response to vitamin B3; response to progesterone stimulus; lipopolysaccharide-mediated signaling pathway; organ regeneration; endoplasmic reticulum unfolded protein response; cellular homeostasis; cytokine-mediated signaling pathway; viral genome replication; negative regulation of angiogenesis; maternal process involved in parturition; response to activity; apoptotic cell clearance; protein kinase B signaling cascade; astrocyte cell migration; cellular response to fibroblast growth factor stimulus; response to ethanol; response to antibiotic; vascular endothelial growth factor receptor signaling pathway; macrophage chemotaxis; lymphocyte chemotaxis; positive regulation of synaptic transmission; positive regulation of T cell activation; response to glucocorticoid stimulus; positive regulation of nitric-oxide synthase biosynthetic process; cellular response to lipopolysaccharide; signal transduction; MAPK cas | 17q11.2-q12 |
| CCL20 | chemotaxis; defense response to bacterium; chemokinesis; cell-cell signaling; signal transduction; immune response; inflammatory response | 2q36.3 |
| CCL22 | immune response; response to virus; cell-cell signaling; signal transduction; inflammatory response; chemotaxis | 16q13 |
| CCL23 | cell-cell signaling; monocyte chemotaxis; cellular calcium ion homeostasis; chemotaxis; inflammatory response; immune response; signal transduction; G-protein coupled receptor signaling pathway; negative regulation of C-C chemokine binding; negative regulation of cell proliferation | 17q12 |
| CCL24 | positive regulation of Rac GTPase activity; positive regulation of inflammatory response; eosinophil chemotaxis; positive regulation of angiogenesis; positive regulation of actin filament polymerization; positive regulation of cell migration; regulation of cell shape; cell-cell signaling; signal transduction; cytoskeleton organization; immune response; inflammatory response; chemotaxis; positive regulation of endothelial cell proliferation | 7q11.23 |
| CCL25 | chemotaxis; inflammatory response; immune response; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; leukocyte migration | 19p13.2 |
| CCL26 | positive regulation of endothelial cell proliferation; positive regulation of Rac GTPase activity; positive regulation of cell migration; cell-cell signaling; signal transduction; immune response; inflammatory response; chemotaxis; positive regulation of actin filament polymerization | 7q11.23 |
| CCL28 | immune response; elevation of cytosolic calcium ion concentration; chemotaxis | 5p12 |
| CCL3 | positive regulation of inflammatory response; lipopolysaccharide-mediated signaling pathway; positive regulation of interleukin-1 beta secretion; lymphocyte chemotaxis; macrophage chemotaxis; eosinophil chemotaxis; negative regulation of osteoclast differentiation; negative regulation by host of viral transcription; astrocyte cell migration; protein kinase B signaling cascade; eosinophil degranulation; positive regulation of tumor necrosis factor production; positive regulation of neuron apoptosis; positive regulation of calcium-mediated signaling; positive chemotaxis; positive regulation of protein kinase B signaling cascade; positive regulation of calcium ion transport; regulation of sensory perception of pain; positive regulation of ERK1 and ERK2 cascade; response to cholesterol; cellular response to interferon-gamma; cellular response to interleukin-1; cellular response to tumor necrosis factor; cellular response to organic cyclic compound; granulocyte chemotaxis; positive regulation of natural killer cel | 17q12 |
| CCL3L1 | - | 17q21.1 |
| CCL4L1 | chemotaxis; immune response; inflammatory response | 17q12 |
| CCL5 | positive regulation of cell-cell adhesion mediated by integrin; dibenzo-p-dioxin metabolic process; response to insulin stimulus; response to nutrient levels; lipopolysaccharide-mediated signaling pathway; positive regulation of fever generation; activation of phospholipase D activity; positive regulation of cellular biosynthetic process; pseudopodium assembly; positive regulation of cell migration; MAPK cascade; positive regulation of smooth muscle cell migration; response to activity; positive regulation of phosphatidylinositol 3-kinase cascade; positive regulation of T cell chemotaxis; positive regulation of macrophage chemotaxis; response to salt stress; positive regulation of activation of JAK2 kinase activity; positive regulation of gene expression; response to bacterium; dendritic cell chemotaxis; monocyte chemotaxis; regulation of chronic inflammatory response; protein phosphorylation; calcium ion transport; cellular calcium ion homeostasis; exocytosis; inflammatory response; immune response; leukocyt | 17q12 |
| CCL8 | cell-cell signaling; protein phosphorylation; exocytosis; cellular calcium ion homeostasis; calcium ion transport; chemotaxis; inflammatory response; immune response; signal transduction; response to virus | 17q11.2 |
| CCM2 | vasculogenesis; integrin-mediated signaling pathway; endothelial tube morphogenesis; stress-activated MAPK cascade; multicellular organismal development | 7p13 |
| CCM2L | - | 20q11.2 |
| CCNA1 | regulation of transcription involved in G1/S phase of mitotic cell cycle; male meiosis I; spermatogenesis; regulation of cyclin-dependent protein kinase activity; G2/M transition of mitotic cell cycle; mitotic cell cycle; mitosis; G1/S transition of mitotic cell cycle; cell division | 13q12.3-q13 |
| CCNA2 | mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; G2/M transition of mitotic cell cycle; mitosis; mitotic cell cycle G2/M transition DNA damage checkpoint; Ras protein signal transduction; positive regulation of transcription, DNA-dependent; cell division | 4q27 |
| CCNB1 | protein complex assembly; cell cycle checkpoint; negative regulation of protein phosphorylation; in utero embryonic development; oocyte maturation; mitotic cell cycle; mitotic prometaphase; G2/M transition of mitotic cell cycle; G1/S transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of cardiac muscle cell proliferation; ventricular cardiac muscle cell development; positive regulation of attachment of spindle microtubules to kinetochore; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; digestive tract development; response to DDT; positive regulation of mitotic cell cycle; mitotic spindle stabilization; response to drug; tissue regeneration; positive regulation of histone phosphorylation; positive regulation of mRNA 3'-end p | 5q12 |
| CCNB1IP1 | organ growth; spermatid development; meiotic metaphase I; chiasma assembly; blastocyst formation; apoptotic process | 14q11.2 |
| CCNB1IP1P2 | - | - |
| CCNB2 | mitosis; growth; T cell homeostasis; thymus development; cell division; regulation of G2/M transition of mitotic cell cycle; in utero embryonic development; mitotic cell cycle; G2/M transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; cell cycle checkpoint | 15q22.2 |
| CCNB3 | cell division; regulation of G2/M transition of mitotic cell cycle; meiosis; cell cycle; regulation of cyclin-dependent protein kinase activity | Xp11 |
| CCNC | regulation of cyclin-dependent protein kinase activity; gene expression; regulation of transcription, DNA-dependent | 6q21 |
| CCND1 | response to iron ion; cellular response to organic substance; mitotic cell cycle G1/S transition DNA damage checkpoint; organ regeneration; endoplasmic reticulum unfolded protein response; negative regulation of epithelial cell differentiation; negative regulation of Wnt receptor signaling pathway; response to organic cyclic compound; response to organic nitrogen; response to X-ray; liver development; re-entry into mitotic cell cycle; mitotic cell cycle; S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; positive regulation of cell proliferation; positive regulation of protein phosphorylation; response to DNA damage stimulus; lactation; response to estrogen stimulus; response to magnesium ion; response to vitamin E; Leydig cell differentiation; positive regulation of mammary gland epithelial cell proliferation; regulation of phosphorylation; response to drug; response to UV-A; fat cell differentiation; response to ethanol; positive regulation of cyclin-depend | 11q13 |
| CCND2 | cellular response to insulin stimulus; response to testosterone stimulus; response to peptide hormone stimulus; response to ethanol; regulation of neuron differentiation; positive regulation of cyclin-dependent protein kinase activity; response to cAMP; response to estradiol stimulus; response to organic cyclic compound; spermatogenesis; positive regulation of protein phosphorylation; liver development; ovarian follicle development; positive regulation of epithelial cell proliferation; cell division | 12p13 |
| CCND2-AS1 | - | 12p13.32 |
| CCND3 | positive regulation of protein phosphorylation; signal transduction; T cell proliferation; positive regulation of cyclin-dependent protein kinase activity; cell division | 6p21 |
| CCNDBP1 | cell cycle | 15q14-q15 |
| CCNE1 | response to cytokine stimulus; positive regulation of cell differentiation; positive regulation of transcription, DNA-dependent; regulation of cyclin-dependent protein kinase activity; G1/S transition of mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; response to ethanol; response to drug; mitotic cell cycle; regulation of phosphorylation; antral ovarian follicle growth; response to vitamin E; response to progesterone stimulus; response to estradiol stimulus; cellular response to nutrient; organ regeneration; androgen receptor signaling pathway; Wnt receptor signaling pathway; response to purine-containing compound; response to organic nitrogen; protein phosphorylation; DNA-dependent DNA replication initiation; liver development; response to methylmercury; response to corticosterone stimulus; cell division; regulation of catalytic activity | 19q12 |
| CCNE2 | cell division; mitotic cell cycle; G1/S transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; cell cycle checkpoint | 8q22.1 |
| CCNF | mitosis; cell division; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; negative regulation of centrosome duplication; cell cycle; placenta development; re-entry into mitotic cell cycle | 16p13.3 |
| CCNG1 | mitotic cell cycle G2/M transition DNA damage checkpoint; regulation of cyclin-dependent protein kinase activity; syncytium formation; cell cycle; mitosis; brain development; response to organic nitrogen; cell growth; negative regulation of apoptotic process; cell division | 5q32-q34 |
| CCNG2 | cell division; regulation of cell cycle; mitosis; cell cycle checkpoint | 4q21.1 |
| CCNH | transcription initiation from RNA polymerase II promoter; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; mitotic cell cycle; nucleotide-excision repair, DNA damage removal; positive regulation of viral transcription; transcription from RNA polymerase II promoter; termination of RNA polymerase I transcription; transcription elongation from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; regulation of transcription, DNA-dependent; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; transcription elongation from RNA polymerase II promoter; mRNA capping; protein phosphorylation; gene expression; viral reproduction; positive regulation of transcription from RNA polymerase II promoter | 5q13.3-q14 |
| CCNI | spermatogenesis | 4q21.1 |
| CCNI2 | regulation of cyclin-dependent protein kinase activity | 5q31.1 |
| CCNJ | - | 10q23.33 |
| CCNJL | - | 5q33.3 |
| CCNJP1 | - | 7p11.2 |
| CCNK | cell division; mitosis; cell cycle; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; regulation of cyclin-dependent protein kinase activity | 14q32 |
| CCNL1 | RNA processing; regulation of cyclin-dependent protein kinase activity; regulation of transcription, DNA-dependent | 3q25.31 |
| CCNL2 | RNA processing; regulation of transcription, DNA-dependent; regulation of cyclin-dependent protein kinase activity | 1p36.33 |
| CCNO | cell cycle; regulation of cyclin-dependent protein kinase activity; DNA repair; base-excision repair; base-excision repair, AP site formation; depyrimidination; cell division | 5q11.2 |
| CCNT1 | regulation of cyclin-dependent protein kinase activity; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; protein phosphorylation; cell cycle; gene expression; viral reproduction; cell division; positive regulation of viral transcription; interspecies interaction between organisms | 12q13.11 |
| CCNT2 | interspecies interaction between organisms; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; regulation of cyclin-dependent protein kinase activity; transcription elongation from RNA polymerase II promoter; cell cycle; cell division; gene expression; viral reproduction | 2q21.3 |
| CCNT2-AS1 | - | 2q21.3 |
| CCNT2P1 | - | - |
| CCNY | cell division; regulation of canonical Wnt receptor signaling pathway; positive regulation of cyclin-dependent protein kinase activity; Wnt receptor signaling pathway; G2/M transition of mitotic cell cycle; cell cycle | 10p11.21 |
| CCNYL1 | regulation of cyclin-dependent protein kinase activity | 2q33.3 |
| CCNYL2 | regulation of cyclin-dependent protein kinase activity | 10q11.21 |
| CCP110 | G2/M transition of mitotic cell cycle; mitotic cell cycle; centriole replication; regulation of cytokinesis; centrosome duplication | 16p12.3 |
| CCPG1 | cell cycle | 15q21.1 |
| CCR1 | chemokine-mediated signaling pathway; negative regulation of bone mineralization; cytokine-mediated signaling pathway; negative regulation of gene expression; response to wounding; cell-cell signaling; elevation of cytosolic calcium ion concentration; G-protein signaling, coupled to cyclic nucleotide second messenger; cell surface receptor signaling pathway; cell adhesion; inflammatory response; dendritic cell chemotaxis; calcium ion transport; positive regulation of osteoclast differentiation; cellular calcium ion homeostasis; positive regulation of calcium ion transport; positive regulation of ERK1 and ERK2 cascade; immune response; chemotaxis; exocytosis | 3p21 |
| CCR10 | chemotaxis; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration | 17q21.1-q21.3 |
| CCR2 | T-helper 17 cell chemotaxis; cytokine-mediated signaling pathway; cellular homeostasis; positive regulation of cell migration; positive regulation of interferon-gamma production; positive regulation of interleukin-2 production; JAK-STAT cascade; monocyte extravasation; positive regulation of immune complex clearance by monocytes and macrophages; positive regulation of T cell activation; positive regulation of T cell extravasation; positive regulation of monocyte chemotaxis; chemokine-mediated signaling pathway; positive regulation of tumor necrosis factor biosynthetic process; negative regulation of eosinophil degranulation; astrocyte cell migration; interspecies interaction between organisms; innate immune response; positive regulation of alpha-beta T cell proliferation; positive regulation of inflammatory response; elevation of cytosolic calcium ion concentration; positive regulation of T cell chemotaxis; regulation of vascular endothelial growth factor production; response to wounding; blood vessel remodel | 3p21.31 |
| CCR3 | eosinophil chemotaxis; chemotaxis; mast cell chemotaxis; positive regulation of endothelial cell proliferation; positive regulation of angiogenesis; inflammatory response; interspecies interaction between organisms; elevation of cytosolic calcium ion concentration; G-protein signaling, coupled to cAMP nucleotide second messenger; cellular defense response; ERK1 and ERK2 cascade; cell adhesion | 3p21.3 |
| CCR4 | elevation of cytosolic calcium ion concentration; immune response; inflammatory response; chemotaxis; tolerance induction; neuron migration | 3p24 |
| CCR5 | cellular defense response; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway; cell surface receptor signaling pathway; immune response; inflammatory response; chemotaxis; calcium ion transport; dendritic cell chemotaxis; MAPK cascade; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; viral reproduction; initiation of viral infection; calcium-mediated signaling; signaling; entry into host cell; interspecies interaction between organisms; response to cholesterol; cellular response to lipopolysaccharide; cell-cell signaling | 3p21.31 |
| CCR6 | chemotaxis; cellular defense response; humoral immune response; immune response; cellular component movement; dendritic cell chemotaxis; signal transduction; innate immune response; elevation of cytosolic calcium ion concentration | 6q27 |
| CCR7 | positive regulation of dendritic cell antigen processing and presentation; activation of Rho GTPase activity; positive regulation of interleukin-12 production; regulation of interferon-gamma production; response to lipopolysaccharide; ruffle organization; T cell costimulation; positive regulation of pseudopodium assembly; dendritic cell chemotaxis; myeloid dendritic cell chemotaxis; positive regulation of glycoprotein biosynthetic process; positive regulation of humoral immune response; chemotaxis; inflammatory response; immune response; positive regulation of actin filament polymerization; positive regulation of hypersensitivity; G-protein coupled receptor signaling pathway; elevation of cytosolic calcium ion concentration; release of sequestered calcium ion into cytosol; positive regulation of cell motility; negative regulation of leukocyte apoptosis; lymphocyte migration into lymph node; positive regulation of neutrophil chemotaxis; interleukin-12 secretion; response to nitric oxide; positive regulation of | 17q12-q21.2 |
| CCR8 | chemotaxis; immune response; cell adhesion; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway | 3p22 |
| CCR9 | chemotaxis; immune response; cellular defense response; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway | 3p21.3 |
| CCRL1P1 | - | 6q24.1 |
| CCRL2 | - | 3p21 |
| CCS | superoxide metabolic process; intracellular copper ion transport; oxidation-reduction process; copper ion transmembrane transport; metal ion transport; removal of superoxide radicals | 11q13 |
| CCSAP | - | 1q42.13 |
| CCSER1 | - | 4q22.1 |
| CCSER2 | - | 10q23.1 |
| CCT2 | protein folding; chaperone-mediated protein complex assembly; cellular protein metabolic process; 'de novo' posttranslational protein folding | 12q15 |
| CCT3 | 'de novo' posttranslational protein folding; cellular protein metabolic process; protein folding | 1q23 |
| CCT4 | protein folding; cellular protein metabolic process; 'de novo' posttranslational protein folding | 2p15 |
| CCT4P2 | - | Xq11.2 |
| CCT5 | 'de novo' posttranslational protein folding; cellular protein metabolic process; response to virus; protein folding | 5p15.2 |
| CCT5P1 | - | 5q22.3 |
| CCT5P2 | - | 13q31.1 |
| CCT6A | cellular protein metabolic process; 'de novo' posttranslational protein folding; protein folding | 7p11.2 |
| CCT6B | spermatogenesis; protein transport; chaperone-mediated protein complex assembly; protein folding | 17q12 |
| CCT6P1 | - | 7q11.21 |
| CCT6P2 | - | 5p15.2 |
| CCT6P3 | - | 7q11.21 |
| CCT7 | 'de novo' posttranslational protein folding; cellular protein metabolic process; protein folding | 2p13.2 |
| CCT7P1 | - | 6q25.1 |
| CCT7P2 | - | 5q14.3 |
| CCT8 | 'de novo' posttranslational protein folding; cellular protein metabolic process; protein folding | 21q22.11 |
| CCT8P1 | - | 1q21.1 |
| CCZ1 | - | 7p22.1 |
| CCZ1B | - | 7p22.1 |
| CD101 | cell surface receptor signaling pathway | 1p13 |
| CD109 | - | 6q13 |
| CD14 | cell surface receptor signaling pathway; inflammatory response; Toll signaling pathway; response to heat; positive regulation of tumor necrosis factor production; innate immune response; positive regulation of cytokine secretion; cellular response to lipopolysaccharide; cellular response to lipoteichoic acid; apoptotic process; phagocytosis | 5q31.1 |
| CD151 | cell junction assembly; cell adhesion; hemidesmosome assembly | 11p15.5 |
| CD160 | regulation of immune response; cell proliferation; cell surface receptor signaling pathway; cellular defense response | 1q21.1 |
| CD163 | acute-phase response; inflammatory response | 12p13.3 |
| CD163L1 | - | 12p13.3 |
| CD164 | heterophilic cell-cell adhesion; signal transduction; hemopoiesis; negative regulation of cell proliferation; muscle organ development; immune response; cell adhesion; multicellular organismal development; negative regulation of cell adhesion | 6q21 |
| CD164L2 | - | 1p36.11 |
| CD177 | leukocyte migration; blood coagulation | 19q13.2 |
| CD177P1 | - | 19q13.31 |
| CD180 | inflammatory response; innate immune response | 5q12 |
| CD19 | cellular defense response; cell surface receptor signaling pathway; regulation of immune response | 16p11.2 |
| CD1A | antigen processing and presentation; immune response | 1q22-q23 |
| CD1B | antigen processing and presentation; immune response | 1q22-q23 |
| CD1C | immune response; T cell activation involved in immune response; antigen processing and presentation | 1q22-q23 |
| CD1D | antigen processing and presentation, endogenous lipid antigen via MHC class Ib; positive regulation of innate immune response; T cell selection; positive regulation of T cell proliferation; heterotypic cell-cell adhesion; antigen processing and presentation; detection of bacterium; interspecies interaction between organisms | 1q22-q23 |
| CD1E | antigen processing and presentation; immune response | 1q22-q23 |
| CD2 | T cell activation; positive regulation of myeloid dendritic cell activation; regulation of T cell differentiation; leukocyte migration; natural killer cell activation; cell-cell adhesion; blood coagulation; cell surface receptor signaling pathway; induction of apoptosis; membrane raft polarization | 1p13.1 |
| CD200 | regulation of immune response | 3q12-q13 |
| CD200R1 | interspecies interaction between organisms; regulation of immune response | 3q13.2 |
| CD200R1L | - | 3q13.2 |
| CD207 | defense response to virus; antigen processing and presentation of exogenous peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of peptide antigen via MHC class I | 2p13 |
| CD209 | intracellular virion transport; endocytosis; cell adhesion; heterophilic cell-cell adhesion; leukocyte cell-cell adhesion; cell-cell recognition; virus-host interaction; virion attachment to host cell surface receptor; viral genome replication; antigen processing and presentation; intracellular signal transduction; interspecies interaction between organisms; peptide antigen transport; innate immune response | 19p13 |
| CD22 | cell adhesion | 19q13.1 |
| CD226 | positive regulation of mast cell activation; signal transduction; cell adhesion; positive regulation of immunoglobulin mediated immune response; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; cytokine production; cell recognition; positive regulation of Fc receptor mediated stimulatory signaling pathway; regulation of immune response; positive regulation of natural killer cell mediated cytotoxicity | 18q22.3 |
| CD24 | cell migration; respiratory burst; response to estrogen stimulus; regulation of MAPK cascade; response to hypoxia; cell activation; regulation of cytokine-mediated signaling pathway; positive regulation of MAP kinase activity; cholesterol homeostasis; regulation of phosphorylation; response to molecule of bacterial origin; positive regulation of protein tyrosine kinase activity; regulation of epithelial cell differentiation; cell-cell adhesion; Wnt receptor signaling pathway; induction of apoptosis by intracellular signals; axon guidance; elevation of cytosolic calcium ion concentration; immune response-regulating cell surface receptor signaling pathway; T cell costimulation; B cell receptor transport into membrane raft; chemokine receptor transport out of membrane raft; negative regulation of transforming growth factor beta3 production; positive regulation of activated T cell proliferation | 6q21 |
| CD244 | signal transduction; blood coagulation; leukocyte migration | 1q23.3 |
| CD247 | regulation of defense response to virus by virus; regulation of immune response; T cell costimulation; viral reproduction; cell surface receptor signaling pathway; T cell receptor signaling pathway; interspecies interaction between organisms | 1q24.2 |
| CD248 | - | 11q13 |
| CD24P2 | - | 15q21.3 |
| CD27 | induction of apoptosis; cell surface receptor signaling pathway; release of cytoplasmic sequestered NF-kappaB; immunoglobulin mediated immune response; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; response to ethanol; positive regulation of B cell differentiation; anti-apoptosis; positive regulation of JNK cascade | 12p13 |
| CD27-AS1 | - | 12p13.31 |
| CD274 | negative regulation of T cell proliferation; peptidyl-tyrosine dephosphorylation; T cell costimulation; cell proliferation; immune response; signal transduction; cell surface receptor signaling pathway | 9p24 |
| CD276 | regulation of immune response; positive regulation of bone mineralization; negative regulation of inflammatory response; positive regulation of osteoblast differentiation; negative regulation of interleukin-2 biosynthetic process; positive regulation of interferon-gamma biosynthetic process; positive regulation of T cell proliferation; cell proliferation; immune response; T cell activation; negative regulation of T cell proliferation; negative regulation of interferon-gamma biosynthetic process | 15q23-q24 |
| CD28 | T cell activation; positive regulation of viral genome replication; negative thymic T cell selection; regulation of defense response to virus by virus; positive regulation of isotype switching to IgG isotypes; positive regulation of alpha-beta T cell proliferation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of mitosis; positive regulation of anti-apoptosis; positive regulation of translation; positive regulation of interleukin-2 biosynthetic process; positive regulation of T cell proliferation; cytokine biosynthetic process; T cell costimulation; viral reproduction; induction of apoptosis by extracellular signals; cell surface receptor signaling pathway; humoral immune response; immune response; positive regulation of inflammatory response to antigenic stimulus; regulatory T cell differentiation | 2q33 |
| CD2AP | signal transduction; mitosis; cell cycle; cell division; substrate-dependent cell migration, cell extension; protein complex assembly | 6p12 |
| CD2BP2 | nuclear mRNA splicing, via spliceosome; assembly of spliceosomal tri-snRNP; negative regulation of phosphatase activity; gene expression; RNA splicing | 16p11.2 |
| CD300A | cell adhesion | 17q25.1 |
| CD300C | cellular defense response | 17q25.1 |
| CD300LB | - | 17q25.1 |
| CD300LF | - | 17q25.1 |
| CD300LG | - | 17q21.31 |
| CD302 | - | 2q24.2 |
| CD320 | regulation of cell growth | 19p13.3-p13.2 |
| CD33 | cell adhesion; negative regulation of cell proliferation; cell-cell signaling; signal transduction | 19q13.3 |
| CD34 | cellular response to hypoxia; positive regulation of odontogenesis; negative regulation of nitric oxide biosynthetic process; positive regulation of angiogenesis; cell motility; regulation of immune response; leukocyte migration; transdifferentiation; negative regulation of necrotic cell death; vascular wound healing; interleukin-2 secretion; hemopoietic stem cell proliferation; cell adhesion; positive regulation of transforming growth factor beta production; positive regulation of granulocyte colony-stimulating factor production; extracellular vesicular exosome assembly; glomerular endothelium development; stem cell proliferation; metanephric glomerular mesangial cell differentiation; positive regulation of vasculogenesis; mesangial cell-matrix adhesion; glutamate metabolic process; endothelium development; glomerular filtration; endothelial cell proliferation; tissue homeostasis; signal transduction; regulation of blood pressure; cell proliferation; positive regulation of gene expression; negative regulatio | 1q32 |
| CD36 | positive regulation of cell-matrix adhesion; pattern recognition receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; positive regulation of reactive oxygen species metabolic process; positive regulation of blood microparticle formation; negative regulation of gene expression; positive regulation of interleukin-6 production; positive regulation of interleukin-12 production; cholesterol transport; positive regulation of blood coagulation; platelet activation; cGMP-mediated signaling; lipid storage; plasma membrane long-chain fatty acid transport; positive regulation of cholesterol storage; positive regulation of macrophage derived foam cell differentiation; cellular response to hydroperoxide; blood coagulation; nitric oxide mediated signal transduction; cell surface receptor signaling pathway; cell adhesion; phagocytosis, recognition; transport; lipid metabolic process; platelet degranulation; antigen processing and presentation of exogenous peptide antigen via MHC | 7q11.2 |
| CD37 | regulation of humoral immune response; positive regulation of immunoglobulin production | 19q13.3 |
| CD38 | positive regulation of cell growth; response to interleukin-1; long term synaptic depression; B cell receptor signaling pathway; positive regulation of vasoconstriction; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; negative regulation of apoptotic process; negative regulation of bone resorption; response to hypoxia; signal transduction; elevation of cytosolic calcium ion concentration; female pregnancy; metabolic process; induction of apoptosis by extracellular signals; response to hormone stimulus; positive regulation of B cell proliferation; positive regulation of insulin secretion; response to estradiol stimulus; response to retinoic acid; response to progesterone stimulus; response to hydroperoxide; response to drug | 4p15 |
| CD3D | T cell differentiation; T cell receptor signaling pathway; regulation of immune response; positive regulation of transcription from RNA polymerase II promoter; positive thymic T cell selection; T cell costimulation; cell surface receptor signaling pathway | 11q23 |
| CD3E | negative regulation of smoothened signaling pathway; positive regulation of alpha-beta T cell proliferation; positive regulation of peptidyl-tyrosine phosphorylation; regulation of immune response; positive regulation of calcium-mediated signaling; T cell receptor signaling pathway; positive regulation of interleukin-2 biosynthetic process; negative thymic T cell selection; regulation of apoptotic process; T cell activation; positive regulation of T cell proliferation; positive regulation of interleukin-4 production; positive regulation of interferon-gamma production; T cell costimulation; induction of apoptosis by extracellular signals; response to nutrient; G-protein coupled receptor signaling pathway; positive regulation of T cell anergy; protein complex assembly; cell surface receptor signaling pathway; transmembrane receptor protein tyrosine kinase signaling pathway; T cell differentiation in thymus; signal complex assembly | 11q23 |
| CD3EAP | rRNA transcription; transmembrane receptor protein tyrosine kinase signaling pathway | 19q13.3 |
| CD3G | T cell costimulation; protein complex assembly; establishment or maintenance of cell polarity; cell surface receptor signaling pathway; protein transport; T cell activation; regulation of apoptotic process; regulation of immune response; T cell receptor signaling pathway | 11q23 |
| CD4 | cytokine production; immune response; regulation of T cell activation; T cell receptor signaling pathway; positive regulation of calcium-mediated signaling; positive regulation of peptidyl-tyrosine phosphorylation; regulation of defense response to virus by virus; positive regulation of protein kinase activity; protein palmitoleylation; innate immune response; positive regulation of interleukin-2 biosynthetic process; T cell selection; interspecies interaction between organisms; maintenance of protein location in cell; T cell costimulation; entry into host cell; T cell differentiation; initiation of viral infection; viral reproduction; transmembrane receptor protein tyrosine kinase signaling pathway; enzyme linked receptor protein signaling pathway; cell surface receptor signaling pathway; signal transduction; cell adhesion; induction by virus of host cell-cell fusion | 12p13.31 |
| CD40 | positive regulation of transcription from RNA polymerase II promoter; positive regulation of protein phosphorylation; positive regulation of endothelial cell apoptosis; positive regulation of protein kinase C signaling cascade; cellular response to mechanical stimulus; defense response to virus; positive regulation of NF-kappaB transcription factor activity; regulation of immunoglobulin secretion; regulation of immune response; positive regulation of isotype switching to IgG isotypes; positive regulation of MAP kinase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of Cdc42 GTPase activity; B cell proliferation; immune response-regulating cell surface receptor signaling pathway; protein complex assembly; cellular calcium ion homeostasis; inflammatory response; signal transduction; platelet activation; positive regulation of B cell proliferation; positive regulation of interleukin-12 production; positive regulation of Rac GTPase activity; positive regulation of tyrosine | 20q12-q13.2 |
| CD40LG | immune response; positive regulation of endothelial cell apoptosis; regulation of immunoglobulin secretion; regulation of immune response; positive regulation of MHC class II biosynthetic process; isotype switching; B cell proliferation; positive regulation of interleukin-12 production; positive regulation of interleukin-10 production; positive regulation of B cell proliferation; B cell differentiation; platelet activation; leukocyte cell-cell adhesion; positive regulation of interferon-gamma production; inflammatory response; anti-apoptosis; positive regulation of immune response to tumor cell | Xq26 |
| CD44 | cartilage development; positive regulation of peptidyl-tyrosine phosphorylation; negative regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of apoptotic process; positive regulation of heterotypic cell-cell adhesion; positive regulation of peptidyl-serine phosphorylation; hyaluronan catabolic process; cytokine-mediated signaling pathway; cell-cell adhesion; cell-matrix adhesion; interferon-gamma-mediated signaling pathway; cell adhesion; positive regulation of ERK1 and ERK2 cascade; monocyte aggregation | 11p13 |
| CD46 | interspecies interaction between organisms; complement activation, classical pathway; innate immune response; single fertilization | 1q32 |
| CD46P1 | - | 1q32 |
| CD47 | cell adhesion; integrin-mediated signaling pathway; blood coagulation; positive regulation of cell proliferation; positive regulation of cell-cell adhesion; positive regulation of T cell activation; leukocyte migration | 3q13.1-q13.2 |
| CD48 | leukocyte migration; mast cell activation; T cell activation; blood coagulation; defense response; signal transduction | 1q21.3-q22 |
| CD5 | T cell costimulation; induction of apoptosis by extracellular signals; cell proliferation; cell recognition | 11q13 |
| CD52 | respiratory burst; elevation of cytosolic calcium ion concentration | 1p36 |
| CD53 | signal transduction | 1p13 |
| CD55 | complement activation, classical pathway; elevation of cytosolic calcium ion concentration; innate immune response; respiratory burst | 1q32 |
| CD58 | cell adhesion; blood coagulation; cell-cell adhesion; leukocyte migration | 1p13 |
| CD59 | cell surface receptor signaling pathway; blood coagulation | 11p13 |
| CD5L | cellular defense response; apoptotic process | 1q21-q23 |
| CD6 | cell adhesion | 11q13 |
| CD63 | platelet degranulation; blood coagulation; platelet activation | 12q12-q13 |
| CD68 | - | 17p13 |
| CD69 | cellular response to drug | 12p13 |
| CD7 | T cell activation; homeostasis of number of cells within a tissue; transmembrane receptor protein tyrosine kinase signaling pathway; immune response | 17q25.2-q25.3 |
| CD70 | immune response; cell proliferation; cell-cell signaling; signal transduction; induction of apoptosis | 19p13 |
| CD72 | axon guidance; cell adhesion | 9p13.3 |
| CD74 | negative regulation of apoptotic process; positive regulation of cytokine-mediated signaling pathway; positive regulation of dendritic cell antigen processing and presentation; negative regulation of peptide secretion; positive regulation of type 2 immune response; negative regulation of mature B cell apoptosis; protein complex assembly; activation of MAPK activity; prostaglandin biosynthetic process; positive regulation of neutrophil chemotaxis; negative regulation of DNA damage response, signal transduction by p53 class mediator; T cell selection; positive thymic T cell selection; negative thymic T cell selection; negative regulation of T cell differentiation; positive regulation of T cell differentiation; positive regulation of fibroblast proliferation; positive regulation of peptidyl-tyrosine phosphorylation; chaperone mediated protein folding requiring cofactor; positive regulation of macrophage cytokine production; positive regulation of ERK1 and ERK2 cascade; positive regulation of chemokine (C-X-C mot | 5q32 |
| CD79A | B cell receptor signaling pathway; B cell activation; B cell proliferation; B cell differentiation; cell surface receptor signaling pathway | 19q13.2 |
| CD79B | cell surface receptor signaling pathway; signal transduction; immune response | 17q23 |
| CD80 | cell-cell signaling; positive regulation of signal transduction; T cell costimulation; intracellular signal transduction; T cell activation; interspecies interaction between organisms; positive regulation of interleukin-2 biosynthetic process; positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process; positive regulation of T-helper 1 cell differentiation; positive regulation of transcription, DNA-dependent; positive regulation of alpha-beta T cell proliferation; positive regulation of peptidyl-tyrosine phosphorylation | 3q13.3-q21 |
| CD81 | response to wounding; positive regulation of cell proliferation; regulation of immune response; positive regulation of peptidyl-tyrosine phosphorylation; virion attachment, binding of host cell surface receptor; entry of virus into host cell; phosphatidylinositol metabolic process; interspecies interaction between organisms; positive regulation of 1-phosphatidylinositol 4-kinase activity; regulation of growth; activation of MAPK activity; phosphatidylinositol biosynthetic process; protein localization; cell proliferation | 11p15.5 |
| CD81-AS1 | - | 11p15.5 |
| CD82 | - | 11p11.2 |
| CD83 | positive regulation of CD4-positive, alpha-beta T cell differentiation; defense response; humoral immune response; signal transduction; response to organic cyclic compound; negative regulation of interleukin-4 production; positive regulation of interleukin-10 production; positive regulation of interleukin-2 production | 6p23 |
| CD84 | defense response; cell adhesion; homophilic cell adhesion; blood coagulation; leukocyte migration | 1q24 |
| CD86 | positive regulation of interleukin-4 biosynthetic process; toll-like receptor signaling pathway; cell-cell signaling; defense response to virus; positive regulation of transcription, DNA-dependent; positive regulation of T-helper 2 cell differentiation; positive regulation of interleukin-2 biosynthetic process; interspecies interaction between organisms; positive regulation of lymphotoxin A biosynthetic process; B cell activation; T cell activation; T cell costimulation; positive regulation of cell proliferation; immune response | 3q21 |
| CD8A | antigen processing and presentation; T cell mediated immunity; transmembrane receptor protein tyrosine kinase signaling pathway; cell surface receptor signaling pathway; immune response; defense response to virus; positive regulation of calcium-mediated signaling; T cell activation; cytotoxic T cell differentiation; regulation of immune response | 2p12 |
| CD8B | regulation of immune response; regulation of defense response to virus by virus; T cell activation; viral reproduction; transmembrane receptor protein tyrosine kinase signaling pathway; immune response | 2p12 |
| CD8BP | - | 2q12.1 |
| CD9 | oligodendrocyte development; platelet degranulation; cellular component movement; cell adhesion; fusion of sperm to egg plasma membrane; brain development; blood coagulation; negative regulation of cell proliferation; paranodal junction assembly; platelet activation; response to water deprivation | 12p13.3 |
| CD93 | cell-cell adhesion; interspecies interaction between organisms; macrophage activation; phagocytosis | 20p11.21 |
| CD96 | regulation of immune response; cell adhesion; immune response | 3q13.13-q13.2 |
| CD99 | cell adhesion | Xp22.32 and Yp11.3 |
| CD99L2 | cell adhesion | Xq28 |
| CD99P1 | - | Xp22.33;Yp11.31 |
| CDA | cellular response to external biotic stimulus; nucleobase-containing small molecule metabolic process; pyrimidine base metabolic process; cell surface receptor signaling pathway; pyrimidine-containing compound salvage; cytidine deamination; cytosine metabolic process; negative regulation of cell growth; pyrimidine nucleoside salvage; small molecule metabolic process; negative regulation of nucleotide metabolic process; response to cycloheximide; protein homotetramerization | 1p36.2-p35 |
| CDADC1 | - | 13q14.2 |
| CDAN1 | - | 15q15.2 |
| CDC123 | cell cycle; G1 phase of mitotic cell cycle; cell cycle arrest; regulation of mitotic cell cycle; positive regulation of cell proliferation; cell division | 10p13 |
| CDC14A | cell proliferation; cell cycle; cell division | 1p21 |
| CDC14B | protein dephosphorylation; G2/M transition DNA damage checkpoint; DNA repair; peptidyl-tyrosine dephosphorylation; activation of anaphase-promoting complex activity | 9q22.3 |
| CDC14BL | - | 7p12.3 |
| CDC14C | - | 7p12.3 |
| CDC16 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; mitosis; regulation of mitosis; mitotic cell cycle spindle assembly checkpoint; cell proliferation; mitotic cell cycle; cell division; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell cycle checkpoint; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination | 13q34 |
| CDC20 | positive regulation of synapse maturation; activation of anaphase-promoting complex activity; positive regulation of synaptic plasticity; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell division; cell cycle checkpoint; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; cell cycle; mitotic cell cycle spindle assembly checkpoint; nervous system development; positive regulation of cell proliferation; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of dendrite development; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell differentiation | 1p34.1 |
| CDC20B | - | 5q11.2 |
| CDC20P1 | - | 9q21.33 |
| CDC23 | G1 phase of mitotic cell cycle; mitotic cell cycle spindle assembly checkpoint; regulation of exit from mitosis; protein ubiquitination; regulation of mitotic metaphase/anaphase transition; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; cell division; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell cycle checkpoint; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; protein K11-linked ubiquitination; mitotic metaphase/anaphase transition; mitotic metaphase plate congression; mitosis; cell cycle; ubiquitin-dependent protein catabolic process; mitotic cell cycle | 5q31 |
| CDC25A | DNA replication; mitotic cell cycle; cell cycle checkpoint; regulation of cyclin-dependent protein kinase activity; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; cell division; cellular response to UV; response to radiation; cell proliferation; mitosis | 3p21 |
| CDC25B | positive regulation of protein kinase activity; positive regulation of cell cycle cytokinesis; cell division; positive regulation of mitotic cell cycle; peptidyl-tyrosine dephosphorylation; positive regulation of cell proliferation; female meiosis I; mitosis; protein phosphorylation; oocyte maturation; mitotic cell cycle; G2/M transition of mitotic cell cycle | 20p13 |
| CDC25C | regulation of cyclin-dependent protein kinase activity; regulation of cell cycle; cell division; interspecies interaction between organisms; peptidyl-tyrosine dephosphorylation; cell proliferation; traversing start control point of mitotic cell cycle; regulation of mitosis; DNA replication; mitotic cell cycle; M phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; cell cycle checkpoint | 5q31 |
| CDC26 | mitosis; protein K11-linked ubiquitination; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; cell cycle checkpoint; cell division; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; regulation of mitotic metaphase/anaphase transition; mitotic cell cycle spindle assembly checkpoint; mitotic cell cycle | 9q32 |
| CDC27 | mitotic cell cycle spindle assembly checkpoint; cell cycle checkpoint; mitotic cell cycle; mitotic metaphase/anaphase transition; protein K11-linked ubiquitination; cell proliferation; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle | 17q21.32 |
| CDC34 | G1/S transition of mitotic cell cycle; negative regulation of cAMP-mediated signaling; proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; cell cycle; protein modification process; DNA-dependent DNA replication initiation; protein polyubiquitination; protein K48-linked ubiquitination | 19p13.3 |
| CDC37 | regulation of cyclin-dependent protein kinase activity; protein targeting; regulation of interferon-gamma-mediated signaling pathway; regulation of type I interferon-mediated signaling pathway | 19p13.2 |
| CDC37L1 | - | 9p24.1 |
| CDC37L1-AS1 | - | 9p24.1 |
| CDC37P1 | - | 16p11.2 |
| CDC40 | nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; cell division; mRNA 3'-end processing; gene expression; RNA splicing; mRNA export from nucleus | 6q21 |
| CDC42 | positive regulation of muscle cell differentiation; regulation of small GTPase mediated signal transduction; actin filament bundle assembly; neuron fate determination; filopodium assembly; positive regulation of JNK cascade; regulation of protein kinase activity; positive regulation of DNA replication; positive regulation of phosphatidylinositol 3-kinase activity; regulation of protein heterodimerization activity; cell division; regulation of filopodium assembly; nucleus localization; regulation of attachment of spindle microtubules to kinetochore; canonical Wnt receptor signaling pathway; epithelial-mesenchymal cell signaling; hair follicle placode formation; positive regulation of hair follicle cell proliferation; positive regulation of cell cycle cytokinesis; epithelial cell-cell adhesion; blood coagulation; muscle cell differentiation; nervous system development; small GTPase mediated signal transduction; epidermal growth factor receptor signaling pathway; establishment or maintenance of cell polarity; nu | 1p36.1 |
| CDC42-IT1 | - | - |
| CDC42BPA | intracellular signal transduction; protein phosphorylation; cell migration; actin cytoskeleton reorganization; actomyosin structure organization | 1q42.11 |
| CDC42BPB | intracellular signal transduction; actomyosin structure organization; cell migration; signal transduction; establishment or maintenance of cell polarity; cytoskeleton organization; protein phosphorylation; actin cytoskeleton reorganization | 14q32.3 |
| CDC42BPG | intracellular signal transduction; protein phosphorylation; actin cytoskeleton reorganization | 11q13.1 |
| CDC42EP1 | positive regulation of pseudopodium assembly; regulation of cell shape | 22q13.1 |
| CDC42EP2 | actin cytoskeleton organization; positive regulation of actin filament polymerization; positive regulation of pseudopodium assembly; positive regulation of protein complex assembly; positive regulation of Rho GTPase activity; regulation of cell shape; actin filament organization | 11q13 |
| CDC42EP3 | regulation of cell shape; signal transduction | 2p21 |
| CDC42EP4 | positive regulation of pseudopodium assembly; regulation of cell shape; Rho protein signal transduction | 17q24-q25 |
| CDC42EP5 | positive regulation of actin filament polymerization; regulation of cell shape; positive regulation of pseudopodium assembly; Rho protein signal transduction; JNK cascade | 19q13.42 |
| CDC42P2 | - | 7p11.2 |
| CDC42P3 | - | 8q24.3 |
| CDC42P6 | - | 4p15.2 |
| CDC42SE1 | regulation of cell shape; signal transduction; phagocytosis | 1q21.3 |
| CDC42SE2 | regulation of signal transduction; phagocytosis; regulation of cell shape | 5q31.1 |
| CDC45 | DNA replication checkpoint; cell cycle checkpoint; G1/S transition of mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; S phase of mitotic cell cycle; M/G1 transition of mitotic cell cycle; DNA replication; DNA-dependent DNA replication initiation; DNA strand elongation involved in DNA replication; mitotic cell cycle | 22q11.21 |
| CDC5L | cell cycle; RNA splicing; regulation of transcription, DNA-dependent; nuclear mRNA splicing, via spliceosome | 6p21 |
| CDC6 | regulation of mitotic anaphase; positive regulation of cell cycle cytokinesis; positive regulation of chromosome segregation; cell division; negative regulation of cell proliferation; negative regulation of DNA replication; traversing start control point of mitotic cell cycle; mitosis; DNA replication; mitotic cell cycle; M/G1 transition of mitotic cell cycle; S phase of mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; DNA replication checkpoint; cell cycle checkpoint | 17q21.3 |
| CDC7 | phosphorylation; cell cycle checkpoint; G1/S transition of mitotic cell cycle; M/G1 transition of mitotic cell cycle; mitotic cell cycle; DNA replication; positive regulation of cell proliferation; regulation of S phase; cell division | 1p22 |
| CDC73 | transcription, DNA-dependent; negative regulation of epithelial cell proliferation; negative regulation of fibroblast proliferation; histone H2B ubiquitination; protein destabilization; histone monoubiquitination; cell cycle; negative regulation of transcription from RNA polymerase II promoter | 1q25 |
| CDCA2 | mitosis; cell cycle; cell division | 8p21.2 |
| CDCA3 | cell division; mitosis; cell cycle | 12p13 |
| CDCA4 | - | 14q32.33 |
| CDCA5 | double-strand break repair; cell cycle; regulation of cohesin localization to chromatin; G1/S transition of mitotic cell cycle; mitotic sister chromatid cohesion; mitosis; mitotic chromosome condensation; mitotic metaphase plate congression; cell division; interphase of mitotic cell cycle | 11q12.1 |
| CDCA7 | regulation of transcription, DNA-dependent; regulation of cell proliferation | 2q31 |
| CDCA7L | positive regulation of cell proliferation; regulation of transcription, DNA-dependent | 7p15.3 |
| CDCA8 | mitotic cell cycle; cell division; M phase of mitotic cell cycle; mitotic metaphase; mitotic prometaphase; chromosome organization | 1p34.3 |
| CDCP1 | - | 3p21.31 |
| CDCP2 | - | 1p32.3 |
| CDH1 | apoptotic process; cellular response to lithium ion; cellular response to indole-3-methanol; cellular component disassembly involved in apoptosis; cell adhesion; homophilic cell adhesion; synapse assembly; response to toxin; response to organic substance; cell-cell adhesion; pituitary gland development; neuron projection development; cell junction assembly; adherens junction organization; response to drug; positive regulation of transcription factor import into nucleus; cell-cell junction organization; positive regulation of transcription, DNA-dependent; regulation of immune response; negative regulation of cell-cell adhesion | 16q22.1 |
| CDH10 | cell-cell junction organization; homophilic cell adhesion; cell-cell adhesion; cell junction assembly; adherens junction organization | 5p14.2 |
| CDH11 | cell-cell junction organization; adherens junction organization; cell junction assembly; cell-cell adhesion; homophilic cell adhesion; cell adhesion; ossification; skeletal system development | 16q21 |
| CDH12 | cell-cell junction organization; adherens junction organization; cell junction assembly; cell-cell adhesion; homophilic cell adhesion | 5p14.3 |
| CDH12P4 | - | 5q13.2 |
| CDH13 | positive regulation of cell migration; regulation of endocytosis; cell junction assembly; positive regulation of endothelial cell proliferation; positive regulation of cell-matrix adhesion; sprouting angiogenesis; homophilic cell adhesion; negative regulation of cell adhesion; Rho protein signal transduction; negative regulation of cell proliferation; calcium-dependent cell-cell adhesion; Rac protein signal transduction; lamellipodium assembly; regulation of epidermal growth factor receptor signaling pathway; endothelial cell migration; keratinocyte proliferation; cell-cell junction organization; positive regulation of survival gene product expression; positive regulation of smooth muscle cell proliferation; positive regulation of calcium-mediated signaling; positive regulation of positive chemotaxis; localization within membrane; low-density lipoprotein particle mediated signaling; adherens junction organization | 16q23.3 |
| CDH15 | muscle cell differentiation; positive regulation of muscle cell differentiation; cell-cell junction organization; cell junction assembly; homophilic cell adhesion; cell adhesion; adherens junction organization | 16q24.3 |
| CDH16 | cell adhesion; homophilic cell adhesion | 16q22.1 |
| CDH17 | homophilic cell adhesion; oligopeptide transmembrane transport; calcium-dependent cell-cell adhesion; cell adhesion; transport | 8q22.1 |
| CDH18 | cell adhesion; homophilic cell adhesion; cell junction assembly; adherens junction organization; cell-cell junction organization | 5p14.3 |
| CDH19 | cell-cell adhesion; homophilic cell adhesion; cell adhesion | 18q22.1 |
| CDH2 | regulation of axonogenesis; adherens junction organization; cell junction assembly; regulation of protein localization; regulation of myelination; cell migration; calcium-dependent cell-cell adhesion; synapse assembly; heterophilic cell-cell adhesion; homophilic cell adhesion; cell adhesion; regulation of Rho protein signal transduction; muscle cell differentiation; positive regulation of MAPK cascade; cell-cell junction organization; blood vessel morphogenesis; striated muscle cell differentiation; positive regulation of muscle cell differentiation; negative regulation of canonical Wnt receptor signaling pathway | 18q11.2 |
| CDH20 | homophilic cell adhesion; cell-cell adhesion | 18q21.33 |
| CDH22 | homophilic cell adhesion; cell adhesion | 20q13.1 |
| CDH23 | auditory receptor cell stereocilium organization; inner ear morphogenesis; calcium ion transport; sensory perception of light stimulus; response to stimulus; post-embryonic organ morphogenesis; cell adhesion; equilibrioception; cytosolic calcium ion homeostasis; photoreceptor cell maintenance; auditory receptor cell differentiation; homophilic cell adhesion; sensory perception of sound; righting reflex; adult locomotory behavior; calcium-dependent cell-cell adhesion | 10q22.1 |
| CDH24 | cell junction assembly; cell-cell adhesion; homophilic cell adhesion; adherens junction organization; cell-cell junction organization | 14q11.2 |
| CDH26 | cell adhesion; homophilic cell adhesion | 20q13.33 |
| CDH3 | adherens junction organization; cell adhesion; cell-cell junction organization; response to stimulus; homophilic cell adhesion; visual perception; cell junction assembly | 16q22.1 |
| CDH4 | cell adhesion; homophilic cell adhesion; heterophilic cell-cell adhesion; axon guidance; cell-cell junction organization; cell junction assembly; adherens junction organization; positive regulation of axon extension | 20q13.3 |
| CDH5 | blood vessel maturation; cell adhesion; homophilic cell adhesion; negative regulation of cell proliferation; cell junction assembly; adherens junction organization; cell-cell junction organization; regulation of establishment of cell polarity | 16q22.1 |
| CDH6 | cell junction assembly; cell-cell junction organization; adherens junction organization; homophilic cell adhesion; cell adhesion | 5p13.3 |
| CDH7 | homophilic cell adhesion; cell-cell adhesion; cell junction assembly; adherens junction organization; cell-cell junction organization | 18q22.1 |
| CDH8 | cell adhesion; homophilic cell adhesion; cell junction assembly; adherens junction organization; cell-cell junction organization | 16q22.1 |
| CDH9 | cell-cell junction organization; adherens junction organization; cell junction assembly; cell-cell adhesion; homophilic cell adhesion | 5p14 |
| CDHR1 | photoreceptor cell maintenance; homophilic cell adhesion; cell adhesion | 10q23.1 |
| CDHR2 | cell adhesion; homophilic cell adhesion; negative regulation of cell growth | 5q35.2 |
| CDHR3 | homophilic cell adhesion; cell adhesion | 7q22.3 |
| CDHR4 | homophilic cell adhesion; cell adhesion | 3p21.31 |
| CDHR5 | calcium-dependent cell-cell adhesion; cell adhesion; homophilic cell adhesion | 11p15.5 |
| CDIP1 | - | 16p13.3 |
| CDIPT | phosphatidylinositol biosynthetic process; phospholipid biosynthetic process; CDP-diacylglycerol metabolic process | 16p11.2 |
| CDIPT-AS1 | - | 16p11.2 |
| CDK1 | response to drug; positive regulation of gene expression; protein localization to kinetochore; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; positive regulation of protein import into nucleus, translocation; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; organ regeneration; chromosome condensation; cell migration; response to activity; response to amine stimulus; response to organic cyclic compound; regulation of Schwann cell differentiation; TRIF-dependent toll-like receptor signaling pathway; innate immune response; response to ethanol; positive regulation of DNA replication; positive regulation of mitotic cell cycle; regulation of embryonic development; response to cadmium ion; response to copper ion; nerve growth factor receptor signaling pathway; response to axon injury; cell division; stress-activated MAPK cascade; positive regulation of ubiqu | 10q21.1 |
| CDK10 | negative regulation of cell proliferation; traversing start control point of mitotic cell cycle | 16q24 |
| CDK11A | regulation of mRNA processing; mitosis; cell division; regulation of mitosis; apoptotic process; protein phosphorylation; regulation of transcription, DNA-dependent; regulation of cell growth; blastocyst development | 1p36.33 |
| CDK12 | mRNA processing; regulation of MAP kinase activity; phosphorylation of RNA polymerase II C-terminal domain; protein autophosphorylation; RNA splicing | 17q12 |
| CDK13 | phosphorylation of RNA polymerase II C-terminal domain; hemopoiesis; interspecies interaction between organisms; positive regulation of cell proliferation; multicellular organismal development; regulation of mitosis; protein phosphorylation; mRNA processing; alternative nuclear mRNA splicing, via spliceosome; RNA splicing | 7p13 |
| CDK14 | regulation of canonical Wnt receptor signaling pathway; cell division; Wnt receptor signaling pathway; G2/M transition of mitotic cell cycle; cell cycle | 7q21-q22 |
| CDK15 | - | 2q33.2 |
| CDK16 | protein phosphorylation | Xp11 |
| CDK17 | protein phosphorylation | 12q23.1 |
| CDK18 | signal transduction; protein phosphorylation | 1q31-q32 |
| CDK19 | cell division | 6q21 |
| CDK2 | potassium ion transport; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; histone phosphorylation; phosphorylation; cell cycle checkpoint; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; G2 phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; M/G1 transition of mitotic cell cycle; mitotic cell cycle; DNA replication; regulation of DNA replication; DNA repair; protein phosphorylation; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; cell cycle; mitosis; traversing start control point of mitotic cell cycle; meiosis; Ras protein signal transduction; cell division; blood coagulation; positive regulation of cell proliferation; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; centrosome duplication; positive regulation of transcription, DNA-dependent; mitotic cell cycle G1/S transition DNA damage checkpoint; regulation of gene silencing; cellular response t | 12q13 |
| CDK20 | cell division; multicellular organismal development | 9q22.1 |
| CDK2AP1 | S phase of mitotic cell cycle; DNA-dependent DNA replication; protein phosphorylation; cell cycle | 12q24.31 |
| CDK2AP2 | - | 11q13 |
| CDK2AP2P1 | - | 9p11.2 |
| CDK3 | G1/S transition of mitotic cell cycle; mitosis; cell proliferation; G0 to G1 transition; cell division | 17q25.1 |
| CDK4 | positive regulation of fibroblast proliferation; regulation of cell cycle; cell division; response to drug; regulation of gene expression; positive regulation of cell proliferation; signal transduction; protein phosphorylation; mitotic cell cycle; S phase of mitotic cell cycle; cell cycle; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle | 12q14 |
| CDK4PS | - | 1p21.1 |
| CDK5 | negative regulation of transcription, DNA-dependent; positive regulation of protein kinase activity; negative regulation of cell cycle; regulated secretory pathway; positive regulation of neuron apoptosis; receptor clustering; regulation of apoptotic process; synaptic transmission, glutamatergic; serine phosphorylation of STAT3 protein; receptor catabolic process; negative regulation of synaptic plasticity; negative regulation of protein ubiquitination; neuron projection development; cortical actin cytoskeleton organization; central nervous system neuron development; regulation of cell migration; positive regulation of calcium ion-dependent exocytosis; protein autophosphorylation; negative regulation of protein export from nucleus; behavioral response to cocaine; regulation of synaptic plasticity; synaptic vesicle endocytosis; axon extension; oligodendrocyte differentiation; dendrite morphogenesis; cell division; neuron apoptosis; regulation of excitatory postsynaptic membrane potential; regulation of dendrit | 7q36 |
| CDK5R1 | negative regulation of transcription, DNA-dependent; regulation of neuron differentiation; positive regulation of neuron apoptosis; ionotropic glutamate receptor signaling pathway; regulation of actin cytoskeleton organization; ephrin receptor signaling pathway; regulation of dendritic spine morphogenesis; neuron migration; regulation of microtubule cytoskeleton organization; neuron projection development; neuron differentiation; cerebral cortex radially oriented cell migration; peptidyl-threonine phosphorylation; peptidyl-serine phosphorylation; phosphorylation; embryo development; cell proliferation; brain development; axonal fasciculation; axon guidance; G-protein coupled acetylcholine receptor signaling pathway; protein phosphorylation; regulation of cyclin-dependent protein kinase activity; neuron cell-cell adhesion; positive regulation of protein serine/threonine kinase activity | 17q11.2 |
| CDK5R2 | regulation of cyclin-dependent protein kinase activity | 2q35 |
| CDK5RAP1 | negative regulation of cyclin-dependent protein kinase activity; tRNA modification; brain development; RNA modification; regulation of neuron differentiation | 20q11.21 |
| CDK5RAP2 | microtubule bundle formation; regulation of spindle checkpoint; centrosome organization; chromosome segregation; negative regulation of centriole replication; positive regulation of transcription, DNA-dependent; negative regulation of neuron differentiation; G2/M transition of mitotic cell cycle; regulation of neuron differentiation; establishment of mitotic spindle orientation; neurogenesis; brain development; microtubule cytoskeleton organization; mitotic cell cycle | 9q33.2 |
| CDK5RAP3 | regulation of neuron differentiation; brain development; regulation of cyclin-dependent protein kinase activity | 17q21.32 |
| CDK6 | hemopoiesis; lateral ventricle development; dentate gyrus development; astrocyte development; regulation of gene expression; response to virus; negative regulation of cell proliferation; cell cycle arrest; cell cycle; protein phosphorylation; type B pancreatic cell development; positive regulation of cell-matrix adhesion; mitotic cell cycle; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; regulation of erythrocyte differentiation; cell dedifferentiation; gliogenesis; negative regulation of cellular senescence; regulation of cell motility; cell division; negative regulation of epithelial cell proliferation; generation of neurons; negative regulation of cell cycle; negative regulation of osteoblast differentiation; negative regulation of myeloid cell differentiation; negative regulation of cell differentiation; positive regulation of fibroblast proliferation | 7q21-q22 |
| CDK7 | transcription from RNA polymerase II promoter; mRNA capping; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; protein phosphorylation; cell cycle arrest; cell proliferation; gene expression; viral reproduction; androgen receptor signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of viral transcription; cell division; transcription elongation from RNA polymerase I promoter; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; mitotic cell cycle; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; transcription from RNA polymerase I promoter; transcription initiation from RNA polymerase I promoter; termination of RNA polymerase I transcription; nucleotide-ex | 5q12.1 |
| CDK8 | gene expression; protein phosphorylation; regulation of transcription, DNA-dependent | 13q12 |
| CDK9 | regulation of DNA repair; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; protein phosphorylation; cell cycle; gene expression; viral reproduction; regulation of histone modification; replication fork arrest; positive regulation of viral transcription; negative regulation of cell cycle arrest; cellular response to cytokine stimulus; cell proliferation | 9q34.1 |
| CDKAL1 | RNA modification | 6p22.3 |
| CDKL1 | protein phosphorylation; cell cycle; heart development | 14q21.3 |
| CDKL2 | protein phosphorylation; signal transduction; sex differentiation | 4q21.1 |
| CDKL3 | protein modification process; protein phosphorylation | 5q31 |
| CDKL4 | - | 2p22.1 |
| CDKL5 | neuron migration; protein phosphorylation; positive regulation of Rac GTPase activity; positive regulation of axon extension; positive regulation of dendrite morphogenesis; regulation of dendrite development; protein autophosphorylation | Xp22 |
| CDKN1A | positive regulation of programmed cell death; negative regulation of cell growth; negative regulation of apoptotic process; response to drug; negative regulation of phosphorylation; regulation of protein import into nucleus, translocation; cellular response to extracellular stimulus; organ regeneration; positive regulation of B cell proliferation; response to organic nitrogen; negative regulation of cyclin-dependent protein kinase activity; positive regulation of anti-apoptosis; response to arsenic-containing substance; positive regulation of fibroblast proliferation; response to corticosterone stimulus; response to hyperoxia; cellular response to ionizing radiation; cellular senescence; stress-induced premature senescence; regulation of DNA biosynthetic process; positive regulation of reactive oxygen species metabolic process; response to organic cyclic compound; cell cycle checkpoint; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycl | 6p21.2 |
| CDKN1B | negative regulation of kinase activity; phosphatidylinositol-mediated signaling; negative regulation of cell growth; positive regulation of microtubule polymerization; negative regulation of phosphorylation; negative regulation of apoptotic process; positive regulation of protein catabolic process; negative regulation of cyclin-dependent protein kinase activity; negative regulation of transcription, DNA-dependent; negative regulation of mitotic cell cycle; nerve growth factor receptor signaling pathway; cell cycle checkpoint; autophagic cell death; inner ear development; negative regulation of cellular component movement; negative regulation of epithelial cell proliferation involved in prostate gland development; cellular response to antibiotic; cellular response to lithium ion; cellular response to organic cyclic compound; mitotic cell cycle arrest; positive regulation of cell death; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; | 12p13.1-p12 |
| CDKN1C | neuron maturation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; negative regulation of epithelial cell proliferation; negative regulation of phosphorylation; negative regulation of kinase activity; positive regulation of transforming growth factor beta receptor signaling pathway; cell cycle arrest; cell cycle; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cell proliferation | 11p15.5 |
| CDKN2A | negative regulation of B cell proliferation; protein destabilization; negative regulation of cell growth; regulation of G2/M transition of mitotic cell cycle; apoptotic mitochondrial changes; negative regulation of cell proliferation; Ras protein signal transduction; cell cycle arrest; cell cycle; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; negative regulation of protein kinase activity; rRNA processing; DNA fragmentation involved in apoptotic nuclear change; negative regulation of cell-matrix adhesion; mitotic cell cycle; protein polyubiquitination; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; cell cycle checkpoint; negative regulation of NF-kappaB transcription factor activity; positive regulation of cellular senescence; positive regulation of macrophage apoptosis; replicative senescence; cellular senescence; positive regulation of cell cycle arrest; protein K63-linked ubiquitination; negative regulation of ubiquitin-pro | 9p21 |
| CDKN2A-AS1 | - | 9p21.3 |
| CDKN2AIP | positive regulation of signal transduction; negative regulation of cell growth; regulation of protein stability | 4q35.1 |
| CDKN2AIPNL | - | 5q31.1 |
| CDKN2AIPNLP1 | - | 1q42.12 |
| CDKN2AIPNLP2 | - | 2p23.3 |
| CDKN2AIPNLP3 | - | - |
| CDKN2B | mitotic cell cycle G1/S transition checkpoint; G1 phase of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity; negative regulation of epithelial cell proliferation; negative regulation of phosphorylation; response to cytokine stimulus; cellular response to nutrient; cellular response to extracellular stimulus; positive regulation of epithelial cell differentiation; megakaryocyte differentiation; response to organic cyclic compound; negative regulation of cell proliferation; cell cycle arrest; mitotic cell cycle; G2/M transition of mitotic cell cycle; positive regulation of transforming growth factor beta receptor signaling pathway | 9p21 |
| CDKN2B-AS1 | - | 9p21.3 |
| CDKN2C | mitotic cell cycle; oligodendrocyte differentiation; negative regulation of phosphorylation; negative regulation of cell growth; negative regulation of cell proliferation; cell cycle arrest; induction of apoptosis; G1/S transition of mitotic cell cycle; G1 phase of mitotic cell cycle; regulation of cyclin-dependent protein kinase activity | 1p32 |
| CDKN2D | cell cycle arrest; regulation of cyclin-dependent protein kinase activity; G1 phase of mitotic cell cycle; mitotic cell cycle; autophagic cell death; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of phosphorylation; response to vitamin D; response to retinoic acid; negative regulation of cell growth; response to UV; negative regulation of cell proliferation; anti-apoptosis; DNA synthesis involved in DNA repair; G1/S transition of mitotic cell cycle | 19p13 |
| CDKN3 | regulation of cyclin-dependent protein kinase activity; G1/S transition of mitotic cell cycle; cell cycle; cell cycle arrest; negative regulation of cell proliferation; peptidyl-tyrosine dephosphorylation | 14q22 |
| CDNF | - | 10p13 |
| CDO1 | response to amino acid stimulus; oxidation-reduction process; inflammatory response; cysteine metabolic process; sulfur amino acid catabolic process; sulfur amino acid biosynthetic process; sulfur amino acid metabolic process; response to cAMP; response to glucocorticoid stimulus; response to ethanol; small molecule metabolic process; taurine biosynthetic process; cellular nitrogen compound metabolic process; response to glucagon stimulus; L-cysteine catabolic process; response to organic nitrogen; lactation | 5q23.2 |
| CDON | positive regulation of muscle cell differentiation; muscle cell differentiation; cell adhesion | 11q24.2 |
| CDPF1 | - | 22q13.31 |
| CDR1 | - | Xq27.1 |
| CDR2 | - | 16p12.3 |
| CDR2L | - | 17q25.1 |
| CDRT1 | - | 17p12 |
| CDRT15 | - | 17p12 |
| CDRT15L2 | - | 17p11.2 |
| CDRT15P1 | - | 17p12 |
| CDRT4 | - | 17p12 |
| CDRT8 | - | 17p12 |
| CDS1 | CDP-choline pathway; phosphatidylinositol biosynthetic process; signal transduction; phototransduction; phospholipid biosynthetic process; CDP-diacylglycerol biosynthetic process | 4q21.23 |
| CDS2 | phospholipid biosynthetic process | 20p13 |
| CDSN | cell-cell adhesion; cell adhesion; epidermis development; skin morphogenesis; keratinocyte differentiation | 6p21.3 |
| CDT1 | DNA replication checkpoint; M/G1 transition of mitotic cell cycle; G1/S transition of mitotic cell cycle; regulation of DNA-dependent DNA replication initiation; regulation of S phase of mitotic cell cycle; DNA replication; mitotic cell cycle; S phase of mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle | 16q24.3 |
| CDV3 | cell proliferation | 3q22.1 |
| CDV3P1 | - | 3q11.2 |
| CDX1 | organ morphogenesis; anterior/posterior pattern specification; positive regulation of transcription from RNA polymerase II promoter; bone morphogenesis; pattern specification process | 5q32 |
| CDX2 | organ morphogenesis; pattern specification process; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter; placenta development; trophectodermal cell differentiation; blastocyst development; blood vessel development; negative regulation of transcription from RNA polymerase II promoter; somatic stem cell maintenance; positive regulation of cell differentiation; anterior/posterior pattern specification; labyrinthine layer development | 13q12.3 |
| CDY1 | - | Yq11.23 |
| CDY3P | - | Yp11.2 |
| CDYL | spermatogenesis; regulation of transcription, DNA-dependent | 6p25.1 |
| CDYL2 | - | 16q23.2 |
| CEACAM1 | cell migration; integrin-mediated signaling pathway; homophilic cell adhesion; angiogenesis | 19q13.2 |
| CEACAM18 | - | 19q13.41 |
| CEACAM19 | - | 19q13.31 |
| CEACAM20 | - | 19q13.31 |
| CEACAM21 | - | 19q13.2 |
| CEACAM22P | - | 19q13.31 |
| CEACAM3 | - | 19q13.2 |
| CEACAM4 | - | 19q13.2 |
| CEACAM5 | - | 19q13.1-q13.2 |
| CEACAM6 | cell-cell signaling; signal transduction | 19q13.2 |
| CEACAM7 | - | 19q13.2 |
| CEACAM8 | immune response | 19q13.2 |
| CEACAMP10 | - | 19q13.2 |
| CEACAMP11 | - | 19q13.2 |
| CEACAMP2 | - | 19q13.2 |
| CEACAMP5 | - | 19q13.2 |
| CEACAMP6 | - | 19q13.2 |
| CEACAMP7 | - | 19q13.2 |
| CEACAMP8 | - | 19q13.2 |
| CEACAMP9 | - | 19q13.2 |
| CEBPA | mitochondrion organization; regulation of transcription, DNA-dependent; acute-phase response; transcription from RNA polymerase II promoter; response to vitamin B2; response to nutrient; cholesterol metabolic process; negative regulation of cell proliferation; cytokine-mediated signaling pathway; myeloid cell differentiation; macrophage differentiation; lung development; organ regeneration; positive regulation of transcription from RNA polymerase II promoter; positive regulation of osteoblast differentiation; positive regulation of fat cell differentiation; interspecies interaction between organisms; generation of precursor metabolites and energy; cellular response to organic cyclic compound; cellular response to lithium ion; response to glucocorticoid stimulus; brown fat cell differentiation; white fat cell differentiation; cell maturation; positive regulation of transcription from RNA polymerase III promoter; urea cycle; negative regulation of transcription from RNA polymerase II promoter; liver development | 19q13.1 |
| CEBPA-AS1 | - | 19q13.11 |
| CEBPB | brown fat cell differentiation; mammary gland epithelial cell differentiation; mammary gland epithelial cell proliferation; regulation of interleukin-6 biosynthetic process; positive regulation of osteoblast differentiation; negative regulation of transcription, DNA-dependent; response to lipopolysaccharide; neuron differentiation; immune response; inflammatory response; acute-phase response; induction of apoptosis; anti-apoptosis; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; embryonic placenta development; cellular response to amino acid stimulus | 20q13.1 |
| CEBPD | transcription from RNA polymerase II promoter | 8p11.2-p11.1 |
| CEBPE | phagocytosis; defense response; myeloid cell differentiation; macrophage differentiation; cytokine biosynthetic process; defense response to bacterium; cellular response to lipopolysaccharide | 14q11.2 |
| CEBPG | B cell differentiation; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of DNA repair; positive regulation of interferon-gamma biosynthetic process; negative regulation of sequence-specific DNA binding transcription factor activity; positive regulation of DNA binding; enucleate erythrocyte differentiation; natural killer cell mediated cytotoxicity; mRNA metabolic process; immune response; regulation of transcription from RNA polymerase II promoter; liver development | 19q13.11 |
| CEBPZ | regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter | 2p22.2 |
| CEBPZOS | - | 2p22 |
| CECR1 | hypoxanthine salvage; inosine biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; multicellular organismal development; adenosine catabolic process | 22q11.2 |
| CECR2 | vesicle-mediated transport; cytokinesis; chromatin modification; DNA fragmentation involved in apoptotic nuclear change; apoptotic process; cytoskeleton organization | 22q11.2 |
| CECR5 | metabolic process | - |
| CECR5-AS1 | - | 22q11.1 |
| CECR6 | - | - |
| CECR7 | - | 22q11.1 |
| CEL | lipid catabolic process; ceramide catabolic process; small molecule metabolic process; intestinal lipid catabolic process; lipid digestion; intestinal cholesterol absorption; pancreatic juice secretion; protein esterification; fatty acid catabolic process; cholesterol catabolic process; triglyceride metabolic process; lipid metabolic process | 9q34.3 |
| CELA1 | post-embryonic development; exocrine pancreas development; multicellular organism growth; negative regulation of transcription from RNA polymerase II promoter; proteolysis; regulation of cell proliferation; regulation of cell differentiation; positive regulation of transcription from RNA polymerase II promoter; pancreas morphogenesis; inflammatory response; Wnt receptor signaling pathway | 12q13 |
| CELA2A | proteolysis | 1p36.21 |
| CELA3A | proteolysis; digestion; cholesterol metabolic process | 1p36.12 |
| CELF1 | mRNA processing; mRNA splice site selection; germ cell development; embryo development; RNA interference; regulation of RNA splicing | 11p11 |
| CELF2 | regulation of heart contraction; mRNA processing; RNA processing | 10p13 |
| CELF2-AS1 | - | 10p14 |
| CELF2-AS2 | - | 10p14 |
| CELF3 | nuclear mRNA splicing, via spliceosome; spermatogenesis; RNA splicing; sperm motility; positive regulation of nuclear mRNA splicing, via spliceosome; regulation of alternative nuclear mRNA splicing, via spliceosome | 1q21 |
| CELF4 | mRNA processing; positive regulation of nuclear mRNA splicing, via spliceosome; embryo development; RNA splicing; germ cell development; regulation of alternative nuclear mRNA splicing, via spliceosome | 18q12 |
| CELF5 | mRNA processing | 19p13 |
| CELF6 | mRNA processing; regulation of alternative nuclear mRNA splicing, via spliceosome | 15q24 |
| CELSR1 | anterior/posterior pattern specification; orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis; establishment of body hair planar orientation; apical protein localization; inner ear morphogenesis; establishment of planar polarity of embryonic epithelium; wound healing; regulation of actin cytoskeleton organization; establishment of planar polarity; locomotory behavior; central nervous system development; multicellular organismal development; Rho protein signal transduction; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; homophilic cell adhesion; cell adhesion; hair follicle development; neural tube closure; neuron migration; lateral sprouting involved in lung morphogenesis; planar cell polarity pathway involved in neural tube closure; protein localization involved in establishment of planar polarity; planar dichotomous subdivision of terminal units involved in lung branching morphogenesis | 22q13.3 |
| CELSR2 | neuron migration; regulation of transcription, DNA-dependent; cell adhesion; homophilic cell adhesion; G-protein coupled receptor signaling pathway; neuropeptide signaling pathway; spermatogenesis; Wnt receptor signaling pathway; neural plate anterior/posterior regionalization; multicellular organismal development; regulation of cell-cell adhesion; dendrite morphogenesis | 1p21 |
| CELSR3 | axonal fasciculation; multicellular organismal development; neuropeptide signaling pathway; G-protein coupled receptor signaling pathway; homophilic cell adhesion; cell adhesion; neuron migration | 3p21.31 |
| CEMIP | - | 15q24 |
| CEND1 | - | 11p15.5 |
| CENPA | mitotic prometaphase; protein localization to chromosome, centromeric region; kinetochore assembly; interspecies interaction between organisms; CenH3-containing nucleosome assembly at centromere; nucleosome assembly; mitotic cell cycle; establishment of mitotic spindle orientation; M phase of mitotic cell cycle | 2p23.3 |
| CENPB | regulation of transcription, DNA-dependent | 20p13 |
| CENPBD1 | regulation of transcription, DNA-dependent | 16q24.3 |
| CENPBD1P1 | - | 19q13.43 |
| CENPC | - | 4q13.2 |
| CENPCP1 | - | 12q21.33 |
| CENPE | mitotic cell cycle spindle assembly checkpoint; positive regulation of attachment of spindle microtubules to kinetochore; multicellular organismal development; kinetochore assembly; cell division; regulation of developmental process; positive regulation of protein kinase activity; positive regulation of mitotic metaphase/anaphase transition; establishment of protein localization; blood coagulation; mitotic metaphase plate congression; regulation of mitosis; microtubule-based movement; mitotic cell cycle; mitotic prometaphase; mitotic metaphase; M phase of mitotic cell cycle; mitotic chromosome movement towards spindle pole | 4q24-q25 |
| CENPF | G2 phase of mitotic cell cycle; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; DNA replication; chromosome segregation; mitotic cell cycle spindle assembly checkpoint; multicellular organismal development; muscle organ development; cell proliferation; regulation of G2/M transition of mitotic cell cycle; protein transport; regulation of striated muscle tissue development; response to drug; negative regulation of transcription, DNA-dependent; cell division; metaphase plate congression; kinetochore assembly; cell differentiation | 1q41 |
| CENPH | chromosome segregation; CenH3-containing nucleosome assembly at centromere; cell division; kinetochore organization; nucleosome assembly; mitotic cell cycle; M phase of mitotic cell cycle; mitotic prometaphase | 5p15.2 |
| CENPI | nucleosome assembly; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; sex differentiation; CenH3-containing nucleosome assembly at centromere; follicle-stimulating hormone signaling pathway | Xq22.1 |
| CENPIP1 | - | - |
| CENPJ | microtubule polymerization; G2/M transition of mitotic cell cycle; mitotic cell cycle; microtubule nucleation; centriole replication; regulation of centriole replication; cell division | 13q12.12 |
| CENPK | M phase of mitotic cell cycle; CenH3-containing nucleosome assembly at centromere; nucleosome assembly; mitotic cell cycle; mitotic prometaphase | 5q12.3 |
| CENPL | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle | 1q25.1 |
| CENPM | mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 22q13.2 |
| CENPN | M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; nucleosome assembly; CenH3-containing nucleosome assembly at centromere | 16q23.2 |
| CENPO | CenH3-containing nucleosome assembly at centromere; M phase of mitotic cell cycle; mitotic prometaphase; mitotic cell cycle; nucleosome assembly; chromosome segregation; cell division | 2p23.3 |
| CENPP | CenH3-containing nucleosome assembly at centromere; nucleosome assembly; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 9q22.31 |
| CENPQ | nucleosome assembly; CenH3-containing nucleosome assembly at centromere; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 6p12.3 |
| CENPT | mitotic prometaphase; M phase of mitotic cell cycle; mitotic cell cycle | 16q22.1 |
| CENPU | regulation of transcription, DNA-dependent; nucleosome assembly; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; CenH3-containing nucleosome assembly at centromere; interspecies interaction between organisms | 4q35.1 |
| CENPV | ameboidal cell migration; cell cycle; mitosis; metabolic process; centromeric heterochromatin assembly; positive regulation of cytokinesis; regulation of chromosome organization; centromere complex assembly; cell division | 17p11.2 |
| CENPVP3 | - | Xp11.22 |
| CENPW | chromosome segregation; centromeric core chromatin assembly | 6q22.32 |
| CEP104 | - | 1p36.32 |
| CEP112 | - | 17q24.1 |
| CEP120 | microtubule cytoskeleton organization; regulation of microtubule-based process; regulation of protein localization; astral microtubule organization; interkinetic nuclear migration; neurogenesis; cerebral cortex development; cell proliferation | 5q23.2 |
| CEP126 | - | 11q22.1 |
| CEP128 | - | 14q31.1 |
| CEP131 | spermatogenesis; multicellular organismal development; cell differentiation; mitotic cell cycle; G2/M transition of mitotic cell cycle | 17q25.3 |
| CEP135 | G2/M transition of mitotic cell cycle; mitotic cell cycle; centriole replication; centriole-centriole cohesion | 4q12 |
| CEP152 | G2/M transition of mitotic cell cycle; mitotic cell cycle; centrosome duplication | 15q21.1 |
| CEP162 | cell cycle; mitosis; cell division | 6q14.3 |
| CEP164 | DNA repair; G2/M transition of mitotic cell cycle; mitotic cell cycle; mitosis; cell division | 11q23.3 |
| CEP170 | - | 1q44 |
| CEP170B | - | 14q32.33 |
| CEP170P1 | - | 4q26 |
| CEP19 | - | 3q29 |
| CEP192 | G2/M transition of mitotic cell cycle; mitotic cell cycle; negative regulation of phosphatase activity; centrosome duplication; spindle assembly | 18p11.21 |
| CEP250 | G2/M transition of mitotic cell cycle; mitotic cell cycle; protein localization; centriole-centriole cohesion; regulation of centriole-centriole cohesion | 20q11.22 |
| CEP290 | mitotic cell cycle; G2/M transition of mitotic cell cycle; protein transport; cell projection organization; hindbrain development; otic vesicle formation; cilium assembly; cilium morphogenesis; pronephros development; eye photoreceptor cell development; positive regulation of transcription, DNA-dependent | 12q21.32 |
| CEP295 | - | 11q21 |
| CEP295NL | - | 17q25 |
| CEP350 | - | 1q25.2 |
| CEP41 | G2/M transition of mitotic cell cycle; protein polyglutamylation; mitotic cell cycle; cilium assembly | 7q32 |
| CEP44 | - | 4q34 |
| CEP55 | cytokinesis; cell cycle; mitosis | 10q23.33 |
| CEP57 | G2/M transition of mitotic cell cycle; fibroblast growth factor receptor signaling pathway; protein homooligomerization; mitotic cell cycle; protein import into nucleus, translocation; spermatid development | 11q21 |
| CEP57L1 | - | 6q21 |
| CEP63 | G2/M transition of mitotic cell cycle; DNA damage checkpoint; signal transduction in response to DNA damage; mitotic cell cycle; mitosis; spindle assembly; cell division | 3q22.2 |
| CEP68 | centrosome organization | 2p14 |
| CEP70 | mitotic cell cycle; G2/M transition of mitotic cell cycle | 3q22.3 |
| CEP72 | mitotic cell cycle; G2/M transition of mitotic cell cycle; spindle organization; gamma-tubulin complex localization | 5p15.33 |
| CEP76 | G2/M transition of mitotic cell cycle; regulation of centriole replication; mitotic cell cycle | 18p11.21 |
| CEP78 | mitotic cell cycle; G2/M transition of mitotic cell cycle | 9q21.2 |
| CEP83 | - | 12q22 |
| CEP83-AS1 | - | 12q22 |
| CEP85 | - | 1p36.11 |
| CEP85L | - | 6q22 |
| CEP89 | - | 19q13.11 |
| CEP95 | - | 17q23.3 |
| CEP97 | - | 3q12.3 |
| CEPT1 | phospholipid biosynthetic process; lipid metabolic process | 1p13.3 |
| CERCAM | lipopolysaccharide biosynthetic process; leukocyte cell-cell adhesion; cell adhesion; cellular component movement | 9q34.11 |
| CERK | small molecule metabolic process; sphingolipid metabolic process; ceramide metabolic process; glycosphingolipid metabolic process; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway | 22q13.31 |
| CERKL | activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; anti-apoptosis | 2q31.3 |
| CERS1 | small molecule metabolic process; sphingolipid metabolic process; brain development; lipid biosynthetic process; sphingolipid biosynthetic process; ceramide biosynthetic process | 19p12 |
| CERS2 | sphingolipid biosynthetic process; small molecule metabolic process; lipid biosynthetic process; ceramide biosynthetic process; sphingolipid metabolic process | 1q21.3 |
| CERS3 | small molecule metabolic process; sphingolipid biosynthetic process; sphingolipid metabolic process; lipid biosynthetic process | 15q26.3 |
| CERS4 | ceramide biosynthetic process; sphingolipid metabolic process; lipid biosynthetic process; sphingolipid biosynthetic process; small molecule metabolic process | 19p13.2 |
| CERS5 | sphingolipid metabolic process; lipid biosynthetic process; sphingolipid biosynthetic process; small molecule metabolic process; ceramide biosynthetic process | 12q13.12 |
| CERS6 | sphingolipid metabolic process; ceramide biosynthetic process; small molecule metabolic process; sphingolipid biosynthetic process; lipid biosynthetic process | 2q24.3 |
| CERS6-AS1 | - | 2q |
| CES1 | metabolic process; response to toxin | 16q22.2 |
| CES1P2 | - | 16q12.2 |
| CES2 | catabolic process | 16q22.1 |
| CES3 | - | 16q22.1 |
| CES4A | - | 16q22.1 |
| CES5A | - | 16q12.2 |
| CES5AP1 | - | 22q11.23 |
| CETN2 | G2/M transition of mitotic cell cycle; mitotic cell cycle; nucleotide-excision repair; mitosis; centriole replication; spermatogenesis; regulation of cytokinesis; cell division | Xq28 |
| CETN3 | cell division; centrosome cycle; mitosis; cell cycle | 5q14.3 |
| CETN4P | - | 4q27 |
| CETP | transport; reverse cholesterol transport; small molecule metabolic process; phosphatidylcholine metabolic process; lipid homeostasis; phospholipid homeostasis; triglyceride homeostasis; lipid metabolic process; cholesterol homeostasis; lipoprotein metabolic process; high-density lipoprotein particle remodeling; very-low-density lipoprotein particle remodeling; triglyceride metabolic process; lipid transport; receptor-mediated endocytosis; steroid metabolic process; cholesterol metabolic process; negative regulation of macrophage derived foam cell differentiation; regulation of cholesterol efflux; phospholipid transport; cholesterol transport; low-density lipoprotein particle remodeling | 16q21 |
| CFAP100 | - | 3q21.3 |
| CFAP126 | - | 1q23.3 |
| CFAP157 | - | 9q34.11 |
| CFAP161 | - | 15q25.1 |
| CFAP20 | multicellular organismal development | 16q21 |
| CFAP206 | - | 6q15 |
| CFAP221 | - | 2q14.2 |
| CFAP36 | - | 2p16.1 |
| CFAP43 | - | 10q25.1 |
| CFAP44 | - | 3q13.2 |
| CFAP45 | - | 1q22 |
| CFAP46 | - | 10q26.3 |
| CFAP47 | - | Xp21.1 |
| CFAP52 | - | 17p13.1 |
| CFAP53 | - | 18q21.1 |
| CFAP57 | - | 1p34.2 |
| CFAP58 | - | 10q25.1 |
| CFAP61 | - | 20p11.23 |
| CFAP65 | - | 2q35 |
| CFAP69 | - | 7q21.13 |
| CFAP70 | - | 10q22.2 |
| CFAP74 | - | 1p36.33 |
| CFAP97 | - | 4q35.1 |
| CFAP99 | - | 4p16.3 |
| CFB | proteolysis; complement activation; innate immune response; complement activation, alternative pathway | 6p21.3 |
| CFD | platelet degranulation; proteolysis; complement activation; complement activation, alternative pathway; Notch signaling pathway; blood coagulation; platelet activation; innate immune response | 19p13.3 |
| CFDP1 | cell adhesion; multicellular organismal development; regulation of cell shape; anti-apoptosis; regulation of cell proliferation | 16q22.2-q22.3 |
| CFH | complement activation, alternative pathway; complement activation | 1q32 |
| CFHR1 | complement activation | 1q32 |
| CFHR3 | - | 1q32 |
| CFHR4 | lipid transport | 1q32 |
| CFHR5 | complement activation, alternative pathway | 1q31.3 |
| CFI | innate immune response; complement activation, classical pathway; proteolysis | 4q25 |
| CFL1 | actin cytoskeleton organization; regulation of cell morphogenesis; response to virus; blood coagulation; axon guidance; Rho protein signal transduction; cytoskeleton organization; anti-apoptosis; platelet degranulation; platelet activation | 11q13 |
| CFL1P1 | - | 10q23.31 |
| CFL1P2 | - | 1p32.3 |
| CFL1P3 | - | 1p31.3 |
| CFL1P5 | - | 5q13.2 |
| CFL1P6 | - | 1p36.22 |
| CFL1P8 | - | - |
| CFL2 | - | 14q12 |
| CFLAR | proteolysis; anti-apoptosis; induction of apoptosis by extracellular signals; positive regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; interspecies interaction between organisms; negative regulation of extrinsic apoptotic signaling pathway | 2q33-q34 |
| CFLAR-AS1 | - | 2q33 |
| CFP | immune response; complement activation; complement activation, alternative pathway; defense response to bacterium; innate immune response | Xp11.4 |
| CFTR | positive regulation of vasodilation; transport; transmembrane transport; response to estrogen stimulus; response to peptide hormone stimulus; response to drug; response to cytokine stimulus; cellular response to hormone stimulus; lung development; transepithelial chloride transport; cholesterol transport; iodide transport; bicarbonate transport; respiratory gaseous exchange; water transport; chloride transport; ion transport; cholesterol biosynthetic process | 7q31.2 |
| CFTRP1 | - | 20p11.1 |
| CGA | thyroid gland development; thyroid hormone generation; signal transduction; cell-cell signaling; gonad development; peptide hormone processing; luteinizing hormone secretion; cellular response to hormone stimulus; cellular nitrogen compound metabolic process; small molecule metabolic process; negative regulation of organ growth; follicle-stimulating hormone secretion; developmental growth | 6q12-q21 |
| CGB1 | - | 19q13.32 |
| CGB2 | - | 19q13.32 |
| CGB7 | - | 19q13.32 |
| CGGBP1 | regulation of transcription, DNA-dependent | 3p12-p11.1 |
| CGN | - | 1q21 |
| CGNL1 | - | 15q21.3 |
| CGREF1 | negative regulation of cell proliferation; cell adhesion; cell cycle arrest; cell cycle; response to stress | 2p23.3 |
| CGRRF1 | negative regulation of cell proliferation; negative regulation of cell growth; response to stress; cell cycle; cell cycle arrest | 14q22.2 |
| CH25H | fatty acid biosynthetic process; bile acid biosynthetic process; cholesterol metabolic process; bile acid metabolic process; sterol biosynthetic process; small molecule metabolic process; lipid metabolic process | 10q23 |
| CHAC1 | apoptosis in response to endoplasmic reticulum stress; response to unfolded protein | 15q15.1 |
| CHAC2 | - | 2p16 |
| CHAD | regulation of cell growth | 17q21.33 |
| CHADL | - | 22q13.2 |
| CHAF1A | cell cycle; protein complex assembly; regulation of transcription, DNA-dependent; DNA replication-dependent nucleosome assembly; chromatin assembly; DNA repair; DNA replication | 19p13.3 |
| CHAF1B | DNA replication-dependent nucleosome assembly; DNA repair; DNA replication; regulation of transcription, DNA-dependent; protein complex assembly; cell cycle; chromatin assembly | 21q22.13 |
| CHAMP1 | sister chromatid biorientation; attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation; protein localization to microtubule; protein localization to kinetochore | 13q34 |
| CHAT | response to nutrient; rhythmic excitation; response to drug; neuron differentiation; dendrite development; acetylcholine biosynthetic process; adult walking behavior; rhythmic behavior; memory; establishment of synaptic specificity at neuromuscular junction; muscle organ development; neuromuscular synaptic transmission; neurotransmitter secretion; synaptic transmission; response to ethanol; response to hypoxia; antral ovarian follicle growth | 10q11.2 |
| CHCHD1 | - | 10q22.2 |
| CHCHD10 | - | 22q11.23 |
| CHCHD2 | - | 7p11.2 |
| CHCHD2P10 | - | 8q11.23 |
| CHCHD2P4 | - | - |
| CHCHD2P5 | - | - |
| CHCHD2P6 | - | 1p36.21 |
| CHCHD2P7 | - | - |
| CHCHD2P8 | - | 13q12.2 |
| CHCHD2P9 | - | 9q21.31 |
| CHCHD3 | mitochondrial fusion; inner mitochondrial membrane organization | 7q33 |
| CHCHD3P1 | - | 10p14 |
| CHCHD3P3 | - | 1p36.11 |
| CHCHD4 | protein transport | 3p25.1 |
| CHCHD4P4 | - | 3p25.3 |
| CHCHD5 | - | 2q13 |
| CHCHD6 | - | 3q21.3 |
| CHCHD7 | - | 8q12.1 |
| CHD1 | chromatin remodeling; regulation of transcription from RNA polymerase II promoter | 5q15-q21 |
| CHD1L | chromatin remodeling; response to DNA damage stimulus; ATP catabolic process; DNA repair | 1q12 |
| CHD2 | regulation of transcription from RNA polymerase II promoter | 15q26 |
| CHD3 | regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; spindle organization; chromatin modification; centrosome organization | 17p13.1 |
| CHD4 | regulation of transcription from RNA polymerase II promoter; chromatin modification | 12p13 |
| CHD5 | chromatin modification; regulation of transcription, DNA-dependent | 1p36.31 |
| CHD6 | regulation of transcription, DNA-dependent; chromatin remodeling; nervous system development | 20q12 |
| CHD7 | retina development in camera-type eye; regulation of growth hormone secretion; face development; skeletal system development; blood vessel development; in utero embryonic development; heart morphogenesis; palate development; limb development; cognition; central nervous system development; genitalia development; semicircular canal morphogenesis; nose development; regulation of transcription, DNA-dependent; artery morphogenesis; inner ear morphogenesis; positive regulation of multicellular organism growth; embryonic hindlimb morphogenesis; female genitalia development; T cell differentiation; cranial nerve development; adult heart development; sensory perception of sound; locomotory behavior; adult walking behavior; blood circulation; chromatin modification | 8q12.2 |
| CHD8 | DNA duplex unwinding; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; ATP-dependent chromatin remodeling; positive regulation of transcription from RNA polymerase III promoter; canonical Wnt receptor signaling pathway; positive regulation of transcription, DNA-dependent; in utero embryonic development; chromatin modification; negative regulation of Wnt receptor signaling pathway; negative regulation of apoptotic process | 14q11.2 |
| CHD9 | small molecule metabolic process; cellular lipid metabolic process; chromatin modification; regulation of transcription, DNA-dependent | 16q12.2 |
| CHDH | alcohol metabolic process | 3p21.1 |
| CHEK1 | replicative senescence; DNA damage checkpoint; regulation of histone H3-K9 acetylation; cellular response to caffeine; cellular response to organic substance; cellular response to mechanical stimulus; chromatin-mediated maintenance of transcription; regulation of mitotic centrosome separation; negative regulation of mitosis; histone H3-T11 phosphorylation; regulation of S phase; G2/M transition DNA damage checkpoint; peptidyl-threonine phosphorylation; regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage; regulation of double-strand break repair via homologous recombination; cell cycle; DNA damage induced protein phosphorylation; response to DNA damage stimulus; DNA repair; DNA replication; G2/M transition of mitotic cell cycle; cell cycle checkpoint | 11q24.2 |
| CHEK2 | response to gamma radiation; DNA damage response, signal transduction resulting in induction of apoptosis; double-strand break repair; regulation of protein catabolic process; signal transduction in response to DNA damage; cellular protein catabolic process; positive regulation of transcription, DNA-dependent; protein autophosphorylation; cell division; signal transduction involved in intra-S DNA damage checkpoint; spindle assembly involved in mitosis; replicative senescence; DNA damage induced protein phosphorylation; cell cycle checkpoint; DNA damage checkpoint; G2/M transition of mitotic cell cycle; regulation of transcription, DNA-dependent; apoptotic process; response to DNA damage stimulus; cell cycle | 22q12.1 |
| CHEK2P1 | - | Yq11.21 |
| CHERP | positive regulation of NFAT protein import into nucleus; release of sequestered calcium ion into cytosol; negative regulation of cell proliferation; nervous system development; cellular calcium ion homeostasis; RNA processing | 19p13.1 |
| CHFR | mitosis; cell cycle; protein polyubiquitination; mitotic cell cycle checkpoint; modification-dependent protein catabolic process; cell division | 12q24.33 |
| CHGA | regulation of blood pressure | 14q32 |
| CHGB | - | 20pter-p12 |
| CHI3L1 | positive regulation of peptidyl-threonine phosphorylation; positive regulation of protein kinase B signaling cascade; interleukin-8 secretion; cellular response to tumor necrosis factor; cartilage development; positive regulation of angiogenesis; response to tumor necrosis factor; lung development; response to mechanical stimulus; activation of NF-kappaB-inducing kinase activity; inflammatory response; carbohydrate metabolic process; cellular response to interleukin-1; response to interleukin-6; response to interleukin-1; positive regulation of ERK1 and ERK2 cascade; chitin catabolic process | 1q32.1 |
| CHI3L2 | carbohydrate metabolic process; chitin catabolic process | 1p13.3 |
| CHIA | digestion; production of molecular mediator involved in inflammatory response; response to fungus; positive regulation of chemokine secretion; chitin metabolic process; carbohydrate metabolic process; chitin catabolic process; cell wall chitin metabolic process; apoptotic process; response to acid; polysaccharide catabolic process; immune response | 1p13.2 |
| CHIAP1 | - | - |
| CHIAP2 | - | 1p13.2 |
| CHIC1 | - | Xq13.2 |
| CHIC2 | - | 4q11 |
| CHID1 | carbohydrate metabolic process; chitin catabolic process; innate immune response | 11p15.5 |
| CHIT1 | chitin catabolic process; response to bacterium; immune response; carbohydrate metabolic process; polysaccharide catabolic process | 1q32.1 |
| CHKA | lipid metabolic process; phosphatidylethanolamine biosynthetic process; phosphatidylcholine biosynthetic process; CDP-choline pathway; lipid transport; signal transduction; phospholipid biosynthetic process; choline metabolic process | 11q13.2 |
| CHKB | phospholipid biosynthetic process; muscle organ development; phosphatidylethanolamine biosynthetic process; CDP-choline pathway | 22q13.33 |
| CHKB-AS1 | - | 22q13.33 |
| CHL1 | multicellular organismal development; signal transduction; nervous system development; axon guidance; cell differentiation; cell adhesion | 3p26.1 |
| CHL1-AS2 | - | 3p26.3 |
| CHM | protein geranylgeranylation; visual perception; intracellular protein transport; blood vessel development; response to stimulus | Xq21.2 |
| CHML | intracellular protein transport; visual perception | 1q42-qter |
| CHMP1A | cell cycle; negative regulation of transcription, DNA-dependent; negative regulation of S phase of mitotic cell cycle; negative regulation of transcription by glucose; gene silencing; vesicle-mediated transport; protein transport; mitotic chromosome condensation; cell division | 16q24.3 |
| CHMP1B | protein transport; cell division; cell cycle | 18p11.21 |
| CHMP2A | endosome transport; cellular membrane organization; protein transport | 19q |
| CHMP2B | endosome transport; cellular membrane organization; protein transport | 3p11.2 |
| CHMP3 | protein transport; cell cycle; apoptotic process; cell division; endosome transport; cellular membrane organization | 2p11.2 |
| CHMP4A | endosome transport; cellular membrane organization; protein transport | 14q12 |
| CHMP4B | protein transport; cellular membrane organization; endosome transport | 20q11.22 |
| CHMP4C | cellular membrane organization; protein transport; endosome transport | 8q21.13 |
| CHMP5 | regulation of receptor recycling; lysosome organization; endosome to lysosome transport; protein transport; cellular membrane organization; endosome transport | 9p13.3 |
| CHMP6 | endosome transport; cellular membrane organization; protein transport | 17q25.3 |
| CHMP7 | protein transport; cellular membrane organization; endosome transport; late endosome to vacuole transport | 8p21.3 |
| CHN1 | regulation of small GTPase mediated signal transduction; regulation of axonogenesis; ephrin receptor signaling pathway; regulation of Rac GTPase activity; motor axon guidance; nervous system development; small GTPase mediated signal transduction | 2q31.1 |
| CHN2 | regulation of small GTPase mediated signal transduction; positive regulation of GTPase activity; small GTPase mediated signal transduction; acrosome assembly | 7p15.3 |
| CHODL | muscle organ development | 21q11.2 |
| CHORDC1 | negative regulation of Rho-dependent protein serine/threonine kinase activity; regulation of response to stress; chaperone-mediated protein folding; regulation of centrosome duplication | 11q14.3 |
| CHORDC2P | - | 14q32.11 |
| CHP1 | - | 15q13.3 |
| CHP2 | - | 16p12.2 |
| CHPF | - | 2q35 |
| CHPF2 | - | 7q36.1 |
| CHPT1 | platelet activating factor biosynthetic process; regulation of cell growth; phospholipid biosynthetic process; CDP-choline pathway; phosphatidylcholine biosynthetic process; lipid metabolic process | 12q |
| CHRAC1 | chromatin remodeling | 8q24.3 |
| CHRD | BMP signaling pathway involved in spinal cord dorsal/ventral patterning; positive regulation of cell adhesion; negative regulation of osteoblast differentiation; floor plate development; forebrain development; negative regulation of BMP signaling pathway; negative regulation of cell migration; dorsal/ventral pattern formation; central nervous system development; pattern specification process; mesoderm formation; gastrulation with mouth forming second; skeletal system development | 3q27 |
| CHRDL1 | ossification; multicellular organismal development; nervous system development; cell differentiation; BMP signaling pathway | Xq23 |
| CHRDL2 | multicellular organismal development; cartilage development; cell differentiation; ossification | 11q14 |
| CHRM1 | nervous system development; protein modification process; signal transduction; G-protein coupled receptor signaling pathway; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; activation of phospholipase C activity by G-protein coupled acetylcholine receptor signaling pathway; G-protein coupled acetylcholine receptor signaling pathway; regulation of locomotion; positive regulation of cell proliferation; cell proliferation; neuromuscular synaptic transmission | 11q13 |
| CHRM2 | G-protein coupled receptor signaling pathway; regulation of smooth muscle contraction; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of phospholipase C activity by G-protein coupled acetylcholine receptor signaling pathway; synaptic transmission; nervous system development; regulation of heart contraction; response to virus; G-protein signaling, coupled to cyclic nucleotide second messenger | 7q31-q35 |
| CHRM3 | digestion; regulation of insulin secretion; positive regulation of smooth muscle contraction; small molecule metabolic process; cell proliferation; nervous system development; G-protein coupled acetylcholine receptor signaling pathway; G-protein coupled receptor signaling pathway; signal transduction; protein modification process; energy reserve metabolic process; regulation of vascular smooth muscle contraction | 1q43 |
| CHRM3-AS2 | - | 1q43 |
| CHRM4 | signal transduction; cell surface receptor signaling pathway; inhibition of adenylate cyclase activity by G-protein coupled acetylcholine receptor signaling pathway; G-protein coupled acetylcholine receptor signaling pathway; synaptic transmission; cell proliferation; response to organic substance | 11p12-p11.2 |
| CHRM5 | cell proliferation; inhibition of adenylate cyclase activity by G-protein coupled acetylcholine receptor signaling pathway; G-protein coupled acetylcholine receptor signaling pathway; dopamine transport; transmission of nerve impulse; regulation of phosphatidylinositol dephosphorylation | 15q26 |
| CHRNA1 | regulation of action potential in neuron; neuron homeostasis; neuromuscular process; musculoskeletal movement; skeletal muscle tissue growth; muscle cell homeostasis; regulation of membrane potential; neuromuscular junction development; neuromuscular synaptic transmission; synaptic transmission; signal transduction; ion transport; transport; skeletal muscle contraction | 2q31.1 |
| CHRNA10 | synaptic transmission, cholinergic; detection of mechanical stimulus involved in sensory perception of sound; cation transport; elevation of cytosolic calcium ion concentration; inner ear morphogenesis; regulation of cell proliferation | 11p15.5 |
| CHRNA2 | ion transport; signal transduction; synaptic transmission | 8p21 |
| CHRNA3 | nervous system development; synaptic transmission, cholinergic; synaptic transmission; activation of transmembrane receptor protein tyrosine kinase activity; signal transduction; regulation of smooth muscle contraction; cation transport; ion transport; heart development; locomotory behavior; synaptic transmission involved in micturition; regulation of excitatory postsynaptic membrane potential; regulation of dendrite morphogenesis; response to drug; regulation of membrane potential; behavioral response to nicotine; ion transmembrane transport; regulation of acetylcholine secretion; response to inorganic substance | 15q24 |
| CHRNA4 | calcium ion transport; ion transport; DNA repair; response to hypoxia; regulation of action potential; regulation of inhibitory postsynaptic membrane potential; cognition; response to oxidative stress; signal transduction; synaptic transmission; synaptic transmission, cholinergic; locomotory behavior; regulation of dopamine secretion; sensory perception of pain; response to nicotine; behavioral response to nicotine; B cell activation; regulation of membrane potential; neurological system process; membrane depolarization | 20q13.2-q13.3 |
| CHRNA5 | behavioral response to nicotine; synaptic transmission; signal transduction; ion transport; transport | 15q24 |
| CHRNA6 | membrane depolarization; signal transduction; synaptic transmission; regulation of dopamine secretion; ion transmembrane transport; transport; cation transport | 8p11.21 |
| CHRNA7 | memory; cognition; activation of MAPK activity; response to hypoxia; ion transport; calcium ion transport; cellular calcium ion homeostasis; signal transduction; synaptic transmission; positive regulation of angiogenesis; response to chemical stimulus; response to nicotine; negative regulation of tumor necrosis factor production; positive regulation of cell proliferation | 15q14 |
| CHRNA9 | elevation of cytosolic calcium ion concentration; synaptic transmission; sensory perception of sound; ion transport | 4p14 |
| CHRNB1 | regulation of membrane potential; muscle fiber development; behavioral response to nicotine; ion transmembrane transport; neuromuscular synaptic transmission; synaptic transmission, cholinergic; signal transduction; muscle contraction; cation transport; postsynaptic membrane organization; neurological system process | 17p13.1 |
| CHRNB2 | regulation of synapse assembly; vestibulocochlear nerve development; membrane depolarization; cognition; neurological system process; regulation of dendrite morphogenesis; negative regulation of action potential; response to ethanol; regulation of circadian sleep/wake cycle, non-REM sleep; regulation of circadian sleep/wake cycle, REM sleep; response to cocaine; B cell activation; regulation of dopamine metabolic process; social behavior; behavioral response to nicotine; response to nicotine; ion transmembrane transport; positive regulation of dopamine secretion; positive regulation of synaptic transmission, dopaminergic; regulation of synaptic transmission, dopaminergic; positive regulation of B cell proliferation; central nervous system projection neuron axonogenesis; lateral geniculate nucleus development; optic nerve morphogenesis; locomotory behavior; calcium ion transport; smooth muscle contraction; signal transduction; synaptic transmission; synaptic transmission, cholinergic; visual perception; sensor | 1q21.3 |
| CHRNB3 | transport; synaptic transmission, cholinergic; synaptic transmission; signal transduction; ion transport | 8p11.2 |
| CHRNB4 | regulation of neurotransmitter secretion; ion transport; regulation of smooth muscle contraction; signal transduction; synaptic transmission; synaptic transmission, cholinergic; locomotory behavior; behavioral response to nicotine; synaptic transmission involved in micturition; regulation of action potential | 15q24 |
| CHRND | regulation of membrane potential; transport; cation transport; muscle contraction; signal transduction; synaptic transmission; ion transmembrane transport; skeletal muscle tissue growth; musculoskeletal movement; neuromuscular process | 2q37.1 |
| CHRNE | transport; regulation of membrane potential; synaptic transmission, cholinergic; synaptic transmission; signal transduction; muscle contraction; cation transport | 17p13.2 |
| CHST1 | polysaccharide metabolic process; galactose metabolic process; sulfur compound metabolic process; inflammatory response; keratan sulfate metabolic process | 11p11.2 |
| CHST10 | cell adhesion; learning; long-term memory; metabolic process; carbohydrate biosynthetic process | 2q11.2 |
| CHST11 | polysaccharide localization; negative regulation of transforming growth factor beta receptor signaling pathway; chondroitin sulfate biosynthetic process; cartilage development; embryonic skeletal system morphogenesis; carbohydrate biosynthetic process; post-embryonic development; embryonic viscerocranium morphogenesis; developmental growth; respiratory gaseous exchange; chondrocyte development; embryonic digit morphogenesis; negative regulation of apoptotic process; tail morphogenesis; regulation of cell proliferation | 12q |
| CHST12 | dermatan sulfate biosynthetic process; chondroitin sulfate biosynthetic process; carbohydrate biosynthetic process | 7p22 |
| CHST13 | chondroitin sulfate biosynthetic process; carbohydrate biosynthetic process | 3q21.3 |
| CHST14 | dermatan sulfate proteoglycan metabolic process; carbohydrate biosynthetic process | 15q15.1 |
| CHST15 | hexose biosynthetic process | 10q26 |
| CHST2 | multicellular organismal development; metabolic process; inflammatory response; sulfur compound metabolic process; carbohydrate metabolic process; N-acetylglucosamine metabolic process | 3q24 |
| CHST3 | positive regulation of cellular component movement; peripheral nervous system axon regeneration; carbohydrate metabolic process; chondroitin sulfate biosynthetic process; T cell homeostasis; sulfur compound metabolic process | 10q22.1 |
| CHST4 | protein sulfation; N-acetylglucosamine metabolic process; carbohydrate metabolic process; sulfur compound metabolic process; cellular component movement; cell-cell signaling; cell adhesion; immune response; inflammatory response | 16q22.2 |
| CHST5 | carbohydrate metabolic process; sulfur compound metabolic process; protein sulfation; N-acetylglucosamine metabolic process | 16q22.3 |
| CHST6 | keratan sulfate biosynthetic process; sulfur compound metabolic process; N-acetylglucosamine metabolic process; carbohydrate metabolic process | 16q22 |
| CHST7 | N-acetylglucosamine metabolic process; sulfur compound metabolic process; chondroitin sulfate biosynthetic process; polysaccharide metabolic process | Xp11.23 |
| CHST8 | proteoglycan biosynthetic process; sulfur compound metabolic process; central nervous system development; carbohydrate biosynthetic process; hormone biosynthetic process | 19q13.1 |
| CHST9 | proteoglycan biosynthetic process; hormone biosynthetic process; glycosaminoglycan metabolic process; carbohydrate biosynthetic process; metabolic process; sulfur compound metabolic process | 18q11.2 |
| CHSY1 | negative regulation of ossification; response to nutrient levels; chondroitin sulfate biosynthetic process | 15q26.3 |
| CHSY3 | - | 5q23.3 |
| CHTF18 | cell cycle; DNA replication | 16p13.3 |
| CHTF8 | cell cycle; DNA replication | 16q22.1 |
| CHTOP | regulation of transcription, DNA-dependent | 1q21.3 |
| CHUK | positive regulation of I-kappaB kinase/NF-kappaB cascade; toll-like receptor 4 signaling pathway; fibroblast growth factor receptor signaling pathway; anatomical structure morphogenesis; osteoclast differentiation; nucleotide-binding oligomerization domain containing signaling pathway; mammary gland alveolus development; mammary gland epithelial cell proliferation; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway; response to virus; TRIF-dependent toll-like receptor signaling pathway; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; odontogenesis of dentin-containing tooth; innate immune response; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; T cell receptor signaling pathway; positive regulation of NF-kappaB transcription factor activity; immune response; morphogenesis of an epithelial sheet; toll-like receptor signaling pathway; MyD88-dependent toll-like recep | 10q24-q25 |
| CHURC1 | multicellular organismal development; positive regulation of transcription, DNA-dependent | 14q23.3 |
| CIAO1 | regulation of transcription from RNA polymerase II promoter; chromosome segregation; positive regulation of cell proliferation; iron-sulfur cluster assembly | 2q11.2 |
| CIAPIN1 | anti-apoptosis; hemopoiesis; apoptotic process | 16q21 |
| CIAPIN1P | - | 18q11.2 |
| CIART | - | 1q21.2 |
| CIB1 | cell adhesion; double-strand break repair; apoptotic process; response to DNA damage stimulus; endomitotic cell cycle; negative regulation of cell proliferation | 15q25.3-q26 |
| CIB2 | integrin-mediated signaling pathway | 15q24 |
| CIB3 | - | 19p13.12 |
| CIB4 | - | 2p23.3 |
| CIC | regulation of transcription, DNA-dependent | 19q13.2 |
| CICP11 | - | 7p11.2 |
| CICP12 | - | - |
| CICP13 | - | 1q41 |
| CICP14 | - | 7q32.1 |
| CICP16 | - | - |
| CICP17 | - | 7p12.1 |
| CICP18 | - | 6p25.3 |
| CICP22 | - | 7p14.1 |
| CICP23 | - | 11p15.5 |
| CICP24 | - | - |
| CICP26 | - | 1q42.13 |
| CICP3 | - | 1p36.33 |
| CICP4 | - | 20q13.33 |
| CICP7 | - | 1p36.33 |
| CICP8 | - | 7p11.2 |
| CIDEA | negative regulation of transforming growth factor beta receptor signaling pathway; lipid storage; cell death; apoptotic process; lipid metabolic process; DNA fragmentation involved in apoptotic nuclear change; DNA damage response, signal transduction resulting in induction of apoptosis; positive regulation of sequestering of triglyceride; temperature homeostasis; negative regulation of tumor necrosis factor production; negative regulation of apoptotic process; negative regulation of cytokine secretion; negative regulation of lipid catabolic process | 18p11.21|18 |
| CIDEB | induction of apoptosis; DNA damage response, signal transduction resulting in induction of apoptosis; apoptotic process | 14q12 |
| CIDEC | induction of apoptosis; apoptotic process | 3p25.3 |
| CIDECP | - | 3p25.3 |
| CIITA | negative regulation of collagen biosynthetic process; interferon-gamma-mediated signaling pathway; response to antibiotic; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of MHC class II biosynthetic process; positive regulation of MHC class I biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; immune response; cytokine-mediated signaling pathway; response to interferon-gamma | 16p13 |
| CILP | negative regulation of insulin-like growth factor receptor signaling pathway | 15q22 |
| CILP2 | - | 19p13.11 |
| CINP | DNA replication; DNA repair; cell division; cell cycle | 14q32.31 |
| CIPC | - | 14q24.3 |
| CIR1 | mRNA processing; regulation of transcription, DNA-dependent; RNA splicing; negative regulation of transcription, DNA-dependent | 2q31.1 |
| CIR1P2 | - | 4q26 |
| CIRBP | response to cold; response to UV; negative regulation of translation; stress granule assembly; positive regulation of translation; mRNA stabilization | 19p13.3 |
| CIRBP-AS1 | - | 19p13.3 |
| CISD1 | regulation of cellular respiration | 10q21.1 |
| CISD1P1 | - | 2p24.1 |
| CISD2 | mitochondrion degradation; multicellular organismal aging; regulation of autophagy | 4q24 |
| CISD3 | - | 17q12 |
| CISH | intracellular signal transduction; regulation of cell growth; JAK-STAT cascade involved in growth hormone signaling pathway; negative regulation of signal transduction | 3p21.3 |
| CITED1 | negative regulation of osteoblast differentiation; response to estrogen stimulus; negative regulation of neuron apoptosis; pigmentation; melanin biosynthetic process; response to interferon-gamma; response to cytokine stimulus; response to insulin stimulus; response to lipopolysaccharide; positive regulation of transforming growth factor beta receptor signaling pathway; response to transforming growth factor beta stimulus; apoptotic process; positive regulation of anti-apoptosis; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; response to cAMP; mesenchymal to epithelial transition; response to parathyroid hormone stimulus; response to interleukin-11; response to interleukin-9; response to interleukin-6; response to interleukin-4; response to interleukin-2; response to interleukin-1; SMAD protein signal transduction; transforming growth factor beta receptor signaling pathway; multicellular organismal development; cell proliferation; positive regulation | Xq13.1 |
| CITED2 | response to estrogen stimulus; adrenal cortex formation; positive regulation of peroxisome proliferator activated receptor signaling pathway; response to fluid shear stress; positive regulation of male gonad development; positive regulation of cell cycle; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; decidualization; thymus development; embryonic camera-type eye morphogenesis; erythrocyte development; embryonic process involved in female pregnancy; bone morphogenesis; cardiac septum morphogenesis; pulmonary artery morphogenesis; cardiac neural crest cell development involved in heart development; hemopoietic progenitor cell differentiation; lens morphogenesis in camera-type eye; leukocyte differentiation; outflow tract morphogenesis; regulation of organ formation; endocardial cushion development; ventricular septum development; anti-apoptosis; multicellular organismal development; | 6q23.3 |
| CITED4 | response to estrogen stimulus; positive regulation of transcription, DNA-dependent | 1p34.2|1p35-p34 |
| CIZ1 | positive regulation of DNA-dependent DNA replication initiation | 9q34.1 |
| CKAP2 | cytokinesis after mitosis; positive regulation of transcription from RNA polymerase II promoter; cell cycle; apoptotic process | 13q14 |
| CKAP2L | - | 2q13 |
| CKAP4 | - | 12q23.3 |
| CKAP5 | mitotic cell cycle; spindle organization; establishment or maintenance of microtubule cytoskeleton polarity; mitotic prometaphase; RNA transport; cell division; centrosome organization; M phase of mitotic cell cycle; G2/M transition of mitotic cell cycle | 11p11.2 |
| CKB | small molecule metabolic process; cellular nitrogen compound metabolic process; cellular chloride ion homeostasis; brain development; creatine metabolic process | 14q32 |
| CKBP1 | - | 16q11.2 |
| CKLF | macrophage chemotaxis; cell proliferation; lymphocyte chemotaxis; chemotaxis; neutrophil chemotaxis; secretion by cell | 16q21 |
| CKMT1A | small molecule metabolic process; creatine metabolic process; cellular nitrogen compound metabolic process | 15q15 |
| CKMT1B | - | 15q15 |
| CKMT2 | muscle contraction; creatine metabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 5q13.3 |
| CKMT2-AS1 | - | 5q14.1 |
| CKS1B | G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; S phase of mitotic cell cycle; mitotic cell cycle; cell cycle; regulation of cyclin-dependent protein kinase activity; cell proliferation; cell division | 1q21.2 |
| CKS1BP3 | - | 5q12.2 |
| CKS1BP6 | - | Xp21.2 |
| CKS1BP7 | - | 8q21.13 |
| CKS2 | phosphatidylinositol-mediated signaling; cell proliferation; meiosis I; cell division; spindle organization; cell cycle; regulation of cyclin-dependent protein kinase activity | 9q22 |
| CLASP1 | microtubule bundle formation; microtubule nucleation; negative regulation of microtubule depolymerization; establishment or maintenance of cell polarity; axon guidance; mitotic cell cycle; mitotic prometaphase; microtubule cytoskeleton organization; M phase of mitotic cell cycle; exit from mitosis; microtubule organizing center organization; negative regulation of microtubule polymerization or depolymerization; microtubule anchoring; cell division; G2/M transition of mitotic cell cycle | 2q14.2-q14.3 |
| CLASP2 | mitotic prometaphase; mitotic cell cycle; M phase of mitotic cell cycle; microtubule anchoring; regulation of microtubule-based process; regulation of microtubule polymerization or depolymerization; microtubule organizing center organization; axon guidance; establishment or maintenance of cell polarity; cell division; negative regulation of microtubule depolymerization; microtubule nucleation | 3p22.3 |
| CLASRP | RNA splicing; mRNA processing | 19q13.3 |
| CLC | lipid catabolic process; multicellular organismal development | 19q13.1 |
| CLCA1 | calcium ion transport; chloride transport; cellular response to hypoxia; ion transport; transport | 1p22.3 |
| CLCA2 | ion transmembrane transport; cell adhesion; chloride transport; transport | 1p22.3 |
| CLCA3P | transport; ion transport | 1p31-p22 |
| CLCA4 | transport; chloride transport | 1p31-p22 |
| CLCC1 | - | 1p13.3 |
| CLCF1 | negative regulation of apoptotic process; positive regulation of astrocyte differentiation; positive regulation of isotype switching to IgE isotypes; negative regulation of neuron apoptosis; positive regulation of immunoglobulin production; cell surface receptor signaling pathway; JAK-STAT cascade; positive regulation of cell proliferation; cytokine-mediated signaling pathway; B cell differentiation; positive regulation of B cell proliferation; positive regulation of tyrosine phosphorylation of Stat3 protein | 11q13.3 |
| CLCN1 | transport; ion transport; chloride transport; muscle contraction; neuronal action potential propagation; transmembrane transport | 7q35 |
| CLCN2 | lung development; retina development in camera-type eye; transmembrane transport; regulation of anion transport; cell differentiation involved in salivary gland development; ion transport; transport | 3q27-q28 |
| CLCN3 | transport; transmembrane transport; endosomal lumen acidification; regulation of pH; chloride transport; ion transport | 4q33 |
| CLCN4 | transport; ion transport; chloride transport; transmembrane transport | Xp22.3 |
| CLCN5 | transport; ion transport; chloride transport; endocytosis; excretion; transmembrane transport | Xp11.23-p11.22 |
| CLCN6 | cell volume homeostasis; transmembrane transport; signal transduction; chloride transport; ion transport | 1p36 |
| CLCN7 | ion transport; chloride transport; response to pH; transmembrane transport; transport | 16p13 |
| CLCNKA | transport; ion transport; chloride transport; excretion; transmembrane transport | 1p36 |
| CLCNKB | ion transport; transmembrane transport; excretion; chloride transport; transport | 1p36 |
| CLCP2 | - | 13q34 |
| CLDN1 | cell adhesion; interspecies interaction between organisms; calcium-independent cell-cell adhesion | 3q28-q29 |
| CLDN10 | cell adhesion; calcium-independent cell-cell adhesion | 13q31-q34 |
| CLDN10-AS1 | - | - |
| CLDN11 | calcium-independent cell-cell adhesion; axon ensheathment; spermatogenesis; cell adhesion | 3q26.2-q26.3 |
| CLDN12 | cell junction assembly; calcium-independent cell-cell adhesion; cell-cell junction organization; tight junction assembly | 7q21 |
| CLDN14 | protein complex assembly; calcium-independent cell-cell adhesion; cell junction assembly; cell-cell junction organization; tight junction assembly | 21q22.3 |
| CLDN15 | calcium-independent cell-cell adhesion; cell junction assembly; cell-cell junction organization; tight junction assembly | 7q11.22 |
| CLDN16 | excretion; cellular metal ion homeostasis; ion transport; calcium-independent cell-cell adhesion; magnesium ion transport | 3q28 |
| CLDN19 | response to stimulus; apical junction assembly; neuronal action potential propagation; calcium-independent cell-cell adhesion; visual perception | 1p34.2 |
| CLDN2 | calcium-independent cell-cell adhesion | Xq22.3-q23 |
| CLDN20 | tight junction assembly; cell-cell junction organization; cell junction assembly; calcium-independent cell-cell adhesion | 6q25 |
| CLDN22 | cell junction assembly; calcium-independent cell-cell adhesion; cell-cell junction organization; tight junction assembly | 4q35.1 |
| CLDN23 | cell junction assembly; calcium-independent cell-cell adhesion; cell-cell junction organization; tight junction assembly | 8p23.1 |
| CLDN24 | - | 4q35.1 |
| CLDN3 | calcium-independent cell-cell adhesion; response to hypoxia | 7q11.23 |
| CLDN34 | - | Xp22.2 |
| CLDN4 | female pregnancy; response to progesterone stimulus; calcium-independent cell-cell adhesion | 7q11.23 |
| CLDN5 | calcium-independent cell-cell adhesion | 22q11.21 |
| CLDN6 | calcium-independent cell-cell adhesion | 16p13.3 |
| CLDN7 | calcium-independent cell-cell adhesion | - |
| CLDN8 | calcium-independent cell-cell adhesion | 21q22.11 |
| CLDN9 | calcium-independent cell-cell adhesion; cell junction assembly; cell-cell junction organization; tight junction assembly | 16p13.3 |
| CLDND1 | - | 3q12.1 |
| CLDND2 | - | 19q13.41 |
| CLEC10A | innate immune response; endocytosis | 17p13.1 |
| CLEC11A | positive regulation of cell proliferation | 19q13.3 |
| CLEC12A | - | 12p13.2 |
| CLEC12B | - | 12p13.2 |
| CLEC14A | - | 14q21.1 |
| CLEC16A | - | 16p13.13 |
| CLEC17A | - | 19p13.12 |
| CLEC18B | - | 16q22.3 |
| CLEC1A | defense response; cell surface receptor signaling pathway | 12p13.2 |
| CLEC1B | cell surface receptor signaling pathway; defense response | 12p13.2 |
| CLEC2B | - | 12p13-p12 |
| CLEC2D | cell surface receptor signaling pathway | 12p13 |
| CLEC2L | - | 7q34 |
| CLEC3B | skeletal system development; ossification; positive regulation of plasminogen activation; bone mineralization; cellular response to organic substance; cellular response to transforming growth factor beta stimulus | 3p22-p21.3 |
| CLEC4A | cell surface receptor signaling pathway; innate immune response; cell adhesion | 12p13 |
| CLEC4C | innate immune response | 12p13.2-p12.3 |
| CLEC4D | innate immune response | 12p13.31 |
| CLEC4E | positive regulation of cytokine secretion; immune response | 12p13.31 |
| CLEC4F | endocytosis | 2p13.3 |
| CLEC4G | - | 19p13.2 |
| CLEC4GP1 | - | 19p13.2 |
| CLEC4M | peptide antigen transport; intracellular signal transduction; antigen processing and presentation; viral genome replication; virion attachment to host cell surface receptor; cell-cell recognition; virus-host interaction; interspecies interaction between organisms; leukocyte cell-cell adhesion; innate immune response; endocytosis; intracellular virion transport | 19p13 |
| CLEC5A | osteoblast development; anti-apoptosis; innate immune response; cellular defense response; interspecies interaction between organisms; signal transduction; response to virus | 7q33 |
| CLEC7A | response to molecule of fungal origin; phagocytosis, engulfment; phagocytosis, recognition; cell surface pattern recognition receptor signaling pathway; defense response to protozoan; cell-cell adhesion; T cell activation; positive regulation of tumor necrosis factor production; pattern recognition receptor signaling pathway; detection of yeast; inflammatory response; cell recognition; carbohydrate mediated signaling; positive regulation of phagocytosis; innate immune response | 12p13.2 |
| CLEC9A | positive regulation of cytokine secretion; receptor-mediated endocytosis | 12p13.2 |
| CLGN | binding of sperm to zona pellucida; single fertilization; protein complex assembly; protein folding | 4q28.3-q31.1 |
| CLHC1 | - | 2p16.1 |
| CLIC1 | signal transduction; chloride transport; ion transport; transport | 6p21.3 |
| CLIC1P1 | - | 12q24.31 |
| CLIC2 | signal transduction; chloride transport; ion transport; transport | Xq28 |
| CLIC3 | ion transport; chloride transport; signal transduction | 9q34.3 |
| CLIC4 | cell differentiation; establishment or maintenance of apical/basal cell polarity; negative regulation of cell migration; keratinocyte differentiation; chloride transport; ion transport; regulation of cytoskeleton organization; cellular response to calcium ion | 1p36.11 |
| CLIC5 | transport; ion transport; sensory perception of sound; auditory receptor cell stereocilium organization; neuromuscular process controlling balance; protein localization; chloride transport; female pregnancy | 6p12.3 |
| CLIC6 | ion transport | 21q22.12 |
| CLINT1 | post-Golgi vesicle-mediated transport; endocytosis; cellular membrane organization | 5q33.3 |
| CLIP1 | mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle; positive regulation of microtubule polymerization; mitosis; transport; microtubule bundle formation | 12q24.3 |
| CLIP2 | - | 7q11.23 |
| CLIP3 | positive regulation of glucose transport; positive regulation of endocytosis; positive regulation of protein phosphorylation; membrane biogenesis; fat cell differentiation; positive regulation of apoptotic process; chaperone-mediated protein transport; negative regulation of microtubule polymerization; peptidyl-L-cysteine S-palmitoylation; positive regulation of establishment of protein localization in plasma membrane | 19q13.12 |
| CLIP4 | - | 2p23.2 |
| CLK1 | protein autophosphorylation; regulation of RNA splicing; peptidyl-tyrosine phosphorylation; peptidyl-threonine phosphorylation; peptidyl-serine phosphorylation; cell proliferation | 2q33 |
| CLK2 | protein phosphorylation; response to ionizing radiation; regulation of RNA splicing; negative regulation of gluconeogenesis; protein autophosphorylation | 1q21 |
| CLK2P1 | - | 7p15.3 |
| CLK3 | protein autophosphorylation; regulation of RNA splicing; peptidyl-tyrosine phosphorylation; protein phosphorylation | 15q24 |
| CLK4 | protein autophosphorylation; regulation of RNA splicing; peptidyl-tyrosine phosphorylation | 5q35 |
| CLLU1 | - | 12q22 |
| CLLU1OS | - | 12q22 |
| CLMN | - | 14q32.13 |
| CLMP | - | 11q24.1 |
| CLN3 | vacuolar transport; arginine transport; associative learning; cell death; lysosomal lumen acidification; lysosome organization; protein folding; receptor-mediated endocytosis; amino acid transport; sphingomyelin metabolic process; galactosylceramide metabolic process; glucosylceramide metabolic process; ceramide metabolic process; cellular amino acid metabolic process; autophagic vacuole fusion; cellular membrane organization; macroautophagy; negative regulation of macroautophagy; protein processing; protein catabolic process; ionotropic glutamate receptor signaling pathway; lysosomal lumen pH elevation; neurotransmitter metabolic process; amyloid precursor protein catabolic process; negative regulation of apoptotic process; negative regulation of catalytic activity; negative regulation of neuron apoptosis; negative regulation of proteolysis; neuromuscular process controlling balance; regulation of action potential; globoside metabolic process; cytosolic calcium ion homeostasis | 16p12.1 |
| CLN5 | lysosome organization; lysosomal lumen acidification; brain development; visual perception; cell death; neurogenesis; protein catabolic process; neuron maturation | 13q21.1-q32 |
| CLN6 | cellular macromolecule catabolic process; cell death; cholesterol metabolic process; protein catabolic process; visual perception; lysosomal lumen acidification; lysosome organization; ganglioside metabolic process; positive regulation of proteolysis; glycosaminoglycan metabolic process; locomotion involved in locomotory behavior | 15q23 |
| CLN8 | negative regulation of transferase activity; neurofilament cytoskeleton organization; retina development in camera-type eye; age-dependent response to oxidative stress; phospholipid metabolic process; ceramide metabolic process; lipid transport; mitochondrial membrane organization; nervous system development; glutamate uptake involved in synaptic transmission; neuromuscular process controlling balance; neuromuscular process controlling posture; musculoskeletal movement; ceramide biosynthetic process; negative regulation of proteolysis; photoreceptor cell maintenance; cellular protein catabolic process; negative regulation of apoptotic process; protein catabolic process; somatic motor neuron differentiation; lipid biosynthetic process; lysosome organization; adult walking behavior; cholesterol metabolic process; cell death; social behavior; associative learning; regulation of cell size | 8p23 |
| CLNK | immune response; intracellular signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway | 4p16.1 |
| CLNS1A | cell volume homeostasis; blood circulation; gene expression; RNA metabolic process; ncRNA metabolic process; transport; spliceosomal snRNP assembly; chloride transport | 11q13.5-q14 |
| CLOCK | entrainment of circadian clock; circadian rhythm; photoperiodism; DNA damage checkpoint; regulation of transcription from RNA polymerase II promoter; signal transduction; circadian regulation of gene expression; positive regulation of transcription from RNA polymerase II promoter; cellular response to ionizing radiation | 4q12 |
| CLP1 | transcription from RNA polymerase II promoter; siRNA loading onto RISC involved in RNA interference; mRNA 3'-end processing; targeting of mRNA for destruction involved in RNA interference; gene expression; RNA splicing; mRNA processing; tRNA splicing, via endonucleolytic cleavage and ligation; termination of RNA polymerase II transcription; nuclear mRNA splicing, via spliceosome | 11q12 |
| CLPB | cellular response to heat | 11q13.4 |
| CLPP | proteolysis | 19p13.3 |
| CLPSL1 | lipid catabolic process; digestion | 6p21.31 |
| CLPSL2 | lipid catabolic process; digestion | 6p21.31 |
| CLPTM1 | multicellular organismal development; regulation of T cell differentiation in thymus; cell differentiation | 19q13.3 |
| CLPTM1L | apoptotic process | 5p15.33 |
| CLPX | ATP catabolic process; protein folding; positive regulation of peptidase activity; proteolysis involved in cellular protein catabolic process | 15q22.31 |
| CLRN1 | sensory perception of sound; photoreceptor cell maintenance; response to stimulus; sensory perception of light stimulus; equilibrioception | 3q25 |
| CLRN3 | - | 10q26.2 |
| CLSPN | DNA damage checkpoint; DNA replication; mitotic cell cycle DNA replication checkpoint; activation of protein kinase activity; G2/M transition DNA damage checkpoint; peptidyl-serine phosphorylation; cell cycle; cellular component disassembly involved in apoptosis; apoptotic process; DNA repair; cell cycle checkpoint | 1p34.2 |
| CLSTN1 | cell adhesion; homophilic cell adhesion | 1p36.22 |
| CLSTN2 | homophilic cell adhesion; cell adhesion | 3q23 |
| CLSTN2-AS1 | - | 3q23 |
| CLSTN3 | cell adhesion; homophilic cell adhesion | 12p13.31 |
| CLTA | nerve growth factor receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; cellular membrane organization; axon guidance; epidermal growth factor receptor signaling pathway; endocytosis; post-Golgi vesicle-mediated transport; intracellular protein transport | 9p13 |
| CLTB | intracellular protein transport; vesicle-mediated transport | 5q35 |
| CLTC | post-Golgi vesicle-mediated transport; nerve growth factor receptor signaling pathway; negative regulation of epidermal growth factor receptor signaling pathway; transferrin transport; receptor internalization; vesicle-mediated transport; cellular membrane organization; axon guidance; epidermal growth factor receptor signaling pathway; mitosis; receptor-mediated endocytosis; intracellular protein transport | 17q11-qter |
| CLTC-IT1 | - | 17q23.2 |
| CLTCL1 | receptor-mediated endocytosis; mitosis; anatomical structure morphogenesis; vesicle-mediated transport; positive regulation of glucose import; intracellular protein transport; signal transduction | 22q11.21 |
| CLU | release of cytochrome c from mitochondria; lipid metabolic process; anti-apoptosis; positive regulation of cell differentiation; innate immune response; reverse cholesterol transport; negative regulation of apoptotic process; positive regulation of apoptotic process; negative regulation of protein homooligomerization; endocrine pancreas development; platelet activation; response to virus; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; complement activation; complement activation, classical pathway; response to oxidative stress; blood coagulation; cell death; positive regulation of cell proliferation; induction of apoptosis by intracellular signals; response to wounding; protein stabilization; neuron projection morphogenesis; platelet degranulation; positive regulation of intrinsic apoptotic signaling pathway; positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process; cellular response to growth factor stimulus; chaperone-mediated | 8p21-p12 |
| CLUAP1 | - | 16p13.3 |
| CLUH | - | 17p13.3 |
| CLUHP3 | - | 16p11.2 |
| CLUHP4 | - | - |
| CLUHP5 | - | - |
| CLUL1 | cell death | 18p11.32 |
| CLVS1 | lysosome organization | 8q12.3 |
| CLYBL | cellular aromatic compound metabolic process | 13q32 |
| CMA1 | regulation of inflammatory response; proteolysis; interleukin-1 beta biosynthetic process | 14q11.2 |
| CMAHP | - | 6p21.32 |
| CMAS | lipopolysaccharide biosynthetic process | 12p12.1 |
| CMBL | - | 5p15.2 |
| CMC1 | - | 3p24.1 |
| CMC2 | - | 16q23.2 |
| CMC4 | - | Xq28 |
| CMIP | - | 16q23 |
| CMKLR1 | positive regulation of macrophage chemotaxis; skeletal system development; chemotaxis; G-protein coupled receptor signaling pathway; negative regulation of NF-kappaB transcription factor activity; negative regulation of interleukin-12 production; immune response; regulation of calcium-mediated signaling | 12q24.1 |
| CMPK1 | pyrimidine ribonucleotide biosynthetic process; nucleobase-containing small molecule metabolic process; small molecule metabolic process; nucleobase-containing small molecule interconversion; UMP biosynthetic process | 1p32 |
| CMPK2 | pyrimidine nucleotide biosynthetic process; dTDP biosynthetic process; cellular response to lipopolysaccharide | 2p25.2 |
| CMSS1 | - | 3q12.1 |
| CMTM1 | chemotaxis | 16q21 |
| CMTM3 | chemotaxis | 16q21 |
| CMTM4 | chemotaxis | 16q21-q22.1 |
| CMTM5 | chemotaxis | 14q11.2 |
| CMTM6 | chemotaxis | 3p22.3 |
| CMTM7 | chemotaxis | 3p22.3 |
| CMTM8 | chemotaxis | 3p22.3 |
| CMTR1 | mRNA capping; mRNA methylation | 6p21.2 |
| CMTR2 | - | 16q22.2 |
| CMYA5 | - | 5q14.1 |
| CNBD1 | - | 8q21.3 |
| CNBD2 | - | 20q11.23 |
| CNBP | positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; cholesterol biosynthetic process; positive regulation of cell proliferation; regulation of transcription, DNA-dependent | 3q21 |
| CNDP1 | proteolysis; metabolic process | 18q22.3 |
| CNDP2 | small molecule metabolic process; cellular nitrogen compound metabolic process; xenobiotic metabolic process; glutathione biosynthetic process; sulfur amino acid metabolic process; proteolysis | 18q22.3 |
| CNEP1R1 | positive regulation of triglyceride biosynthetic process; positive regulation of protein dephosphorylation; protein localization to nucleus; lipid metabolic process | 16q12.1 |
| CNFN | keratinization | 19q13.2 |
| CNGA1 | transmembrane transport; response to stimulus; visual perception; ion transport; transport | 4p12 |
| CNGA2 | response to stimulus; sensory perception of smell; ion transmembrane transport | Xq27 |
| CNGA3 | transport; ion transport; cation transport; signal transduction; response to stimulus; visual perception; ion transmembrane transport; retinal cone cell development; transmembrane transport | 2q11.2 |
| CNGA4 | ion transport; sensory perception of smell; response to stimulus; transmembrane transport | 11p15.4 |
| CNGB1 | transport; response to stimulus; photoreceptor cell maintenance; sensory perception of smell; phototransduction; ion transport; visual perception | 16q13 |
| CNGB3 | ion transmembrane transport; visual perception; response to stimulus; signal transduction; cation transport; transport | 8q21.3 |
| CNIH1 | immune response; signal transduction; vesicle-mediated transport; intracellular signal transduction | 14q22.2 |
| CNIH2 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; synaptic transmission, glutamatergic; intracellular signal transduction; regulation of membrane potential; localization within membrane | 11q13.2 |
| CNIH3 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; intracellular signal transduction | 1q42.12 |
| CNIH4 | intracellular signal transduction | 1q42.11 |
| CNKSR1 | Rho protein signal transduction; Ras protein signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway | 1p36.11 |
| CNKSR2 | regulation of signal transduction | Xp22.12 |
| CNKSR3 | negative regulation of ERK1 and ERK2 cascade; negative regulation of peptidyl-serine phosphorylation; positive regulation of sodium ion transport; regulation of signal transduction | 6q25.2 |
| CNN1 | regulation of smooth muscle contraction; actomyosin structure organization | 19p13.2-p13.1 |
| CNN2 | negative regulation of cell migration; hemopoiesis; positive regulation of gene expression; cytoskeleton organization; actomyosin structure organization; regulation of actin filament-based process; wound healing; regulation of cell proliferation; negative regulation of phagocytosis; cellular response to mechanical stimulus | 19p13.3 |
| CNN2P1 | - | 22q12.2 |
| CNN2P12 | - | 13q11 |
| CNN2P6 | - | 3p23 |
| CNN2P9 | - | 6q21 |
| CNN3 | actomyosin structure organization; smooth muscle contraction; negative regulation of ATPase activity | 1p22-p21 |
| CNN3P1 | - | 6p25.1 |
| CNNM1 | ion transport | 10q24.2 |
| CNNM2 | ion transport | 10q24.32 |
| CNNM3 | ion transport | 2p12-p11.2 |
| CNNM4 | biomineral tissue development; response to stimulus; ion transport; visual perception | 2q11 |
| CNOT1 | nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; regulation of transcription, DNA-dependent; gene expression; RNA metabolic process; mRNA metabolic process | 16q21 |
| CNOT10 | nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; RNA metabolic process; gene expression; mRNA metabolic process | 3p22.3 |
| CNOT10-AS1 | - | - |
| CNOT11 | - | 2q11.2 |
| CNOT2 | nuclear-transcribed mRNA poly(A) tail shortening; gene expression; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; regulation of transcription from RNA polymerase II promoter; mRNA metabolic process; RNA metabolic process | 12q15 |
| CNOT3 | mRNA metabolic process; RNA metabolic process; gene expression; regulation of transcription, DNA-dependent; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 19q13.4 |
| CNOT4 | protein autoubiquitination; mRNA metabolic process; RNA metabolic process; gene expression; regulation of transcription, DNA-dependent; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 7q22-qter |
| CNOT6 | RNA metabolic process; mRNA metabolic process; gene expression; nuclear-transcribed mRNA poly(A) tail shortening; regulation of transcription, DNA-dependent; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 5q35.3 |
| CNOT6L | RNA metabolic process; gene expression; mRNA processing; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; mRNA metabolic process | 4q13.3 |
| CNOT6LP1 | - | 15q21.3 |
| CNOT7 | nuclear-transcribed mRNA poly(A) tail shortening; signal transduction; carbohydrate metabolic process; positive regulation of transcription from RNA polymerase II promoter; mRNA metabolic process; regulation of transcription, DNA-dependent; RNA metabolic process; gene expression; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 8p22-p21.3 |
| CNOT7P2 | - | 1p13.1 |
| CNOT8 | negative regulation of cell proliferation; regulation of transcription, DNA-dependent; gene expression; RNA metabolic process; mRNA metabolic process; nuclear-transcribed mRNA poly(A) tail shortening; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 5q31-q33 |
| CNP | microtubule cytoskeleton organization; synaptic transmission; axonogenesis; adult locomotory behavior; cyclic nucleotide catabolic process; response to toxin; RNA metabolic process | 17q21 |
| CNPPD1 | regulation of cyclin-dependent protein kinase activity | 2q35 |
| CNPY1 | - | 7q36.3 |
| CNPY2 | - | 12q15 |
| CNPY3 | innate immune response | 6pter-p12.1 |
| CNPY4 | - | 7q22.1 |
| CNR1 | response to morphine; negative regulation of ion transport; memory; response to ethanol; negative regulation of action potential; negative regulation of blood pressure; positive regulation of blood pressure; regulation of insulin secretion; negative regulation of nitric-oxide synthase activity; regulation of synaptic transmission, glutamatergic; maternal process involved in female pregnancy; regulation of feeding behavior; regulation of penile erection; response to cocaine; positive regulation of neuron projection development; behavior; response to nutrient; aging; regulation of lipid metabolic process; sensory perception of pain; positive regulation of fever generation; negative regulation of fatty acid beta-oxidation; regulation of synaptic transmission, GABAergic; spermatogenesis; G-protein signaling, coupled to cAMP nucleotide second messenger; G-protein signaling, coupled to cyclic nucleotide second messenger; response to stress; positive regulation of acute inflammatory response to antigenic stimulus; r | 6q14-q15 |
| CNR2 | G-protein signaling, coupled to cyclic nucleotide second messenger; immune response; behavior; sensory perception of pain; negative regulation of synaptic transmission, GABAergic; response to lipopolysaccharide; negative regulation of mast cell activation; negative regulation of action potential; negative regulation of inflammatory response; negative regulation of nitric-oxide synthase activity; response to amphetamine | 1p36.11 |
| CNRIP1 | - | 2p14 |
| CNST | negative regulation of phosphatase activity; positive regulation of Golgi to plasma membrane protein transport | 1q44 |
| CNTD1 | - | 17q21.31 |
| CNTD2 | - | 19q13.2 |
| CNTFR | suckling behavior; brainstem development; signal transduction; nervous system development; sex differentiation; positive regulation of cell proliferation; negative regulation of neuron apoptosis; skeletal muscle organ development; ciliary neurotrophic factor-mediated signaling pathway | 9p13 |
| CNTLN | - | 9p22.2 |
| CNTN1 | cell adhesion; Notch signaling pathway; axon guidance | 12q11-q12 |
| CNTN2 | microtubule cytoskeleton organization; establishment of protein localization to juxtaparanode region of axon; positive regulation of adenosine receptor signaling pathway; regulation of astrocyte differentiation; regulation of neuronal synaptic plasticity; negative regulation of neuron differentiation; clustering of voltage-gated potassium channels; neuron projection development; neuron migration; cell adhesion; cell-matrix adhesion; axon guidance; axonal fasciculation; learning; adult walking behavior; regulation of cell morphogenesis involved in differentiation; positive regulation of protein processing; cerebral cortex GABAergic interneuron migration; central nervous system myelination; regulation of axon diameter; cellular protein localization; receptor internalization | 1q32.1 |
| CNTN3 | cell adhesion; nervous system development | 3p12.3 |
| CNTN4 | brain development; nervous system development; axonogenesis; axon guidance; axonal fasciculation; neuron projection development; negative regulation of neuron differentiation; regulation of synaptic plasticity; cell adhesion; neuron cell-cell adhesion | 3p26.3 |
| CNTN4-AS2 | - | - |
| CNTN5 | cell adhesion | 11q22.1 |
| CNTN6 | cell adhesion; Notch signaling pathway; axon guidance; central nervous system development | 3p26-p25 |
| CNTNAP1 | neuromuscular process controlling posture; signal transduction; cell adhesion; cytoskeleton organization; protein localization to paranode region of axon; axon guidance; neuromuscular process controlling balance; neuron projection morphogenesis; axon cargo transport; paranodal junction assembly | 17q21 |
| CNTNAP2 | transmission of nerve impulse; striatum development; neuron recognition; behavior; brain development; protein localization to juxtaparanode region of axon; limbic system development; thalamus development; cerebral cortex development; vocalization behavior; neuron projection development; cell adhesion; superior temporal gyrus development; signal transduction; cellular protein localization; clustering of voltage-gated potassium channels | 7q35 |
| CNTNAP3 | cell recognition; signal transduction; cell adhesion | 9p13.1 |
| CNTNAP4 | signal transduction; cell adhesion | 16q23.1 |
| CNTNAP5 | cell adhesion; signal transduction | 2q14.3 |
| CNTRL | mitotic cell cycle; G2/M transition of mitotic cell cycle; cell division | 9q33.2 |
| CNTROB | centrosome separation; cytokinesis; cell cycle; centriole replication | 17p13.1 |
| COA1 | - | 7p13 |
| COA3 | - | 17q21 |
| COA4 | - | 11q13.4 |
| COA5 | - | 2q11.2 |
| COA6 | - | 1q42.2 |
| COA7 | - | 1p32.3 |
| COASY | coenzyme biosynthetic process; coenzyme A biosynthetic process; pantothenate metabolic process; small molecule metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; biosynthetic process | 17q12-q21 |
| COBL | neural tube closure | 7p12.1 |
| COBLL1 | - | 2q24.3 |
| COCH | sensory perception of sound | 14q11.2-q13 |
| COG1 | intra-Golgi vesicle-mediated transport; Golgi organization; protein transport | 17q25.1 |
| COG2 | oligosaccharide biosynthetic process; protein glycosylation; intracellular protein transport; intra-Golgi vesicle-mediated transport; Golgi organization; protein transport | 1q42.2 |
| COG3 | intra-Golgi vesicle-mediated transport; retrograde vesicle-mediated transport, Golgi to ER; protein transport; protein localization to organelle; protein stabilization; protein glycosylation; ER to Golgi vesicle-mediated transport; intracellular protein transport | 13q14.13 |
| COG4 | protein transport; Golgi vesicle prefusion complex stabilization; Golgi organization; retrograde vesicle-mediated transport, Golgi to ER | 16q22.1 |
| COG5 | protein transport; intra-Golgi vesicle-mediated transport | 7q31 |
| COG6 | intra-Golgi vesicle-mediated transport; protein transport | 13q14.11 |
| COG7 | protein stabilization; retrograde vesicle-mediated transport, Golgi to ER; protein localization in Golgi apparatus; protein localization to organelle; protein glycosylation; intracellular protein transport | 16p12.2 |
| COG8 | protein transport | 16q22.1 |
| COIL | oxidation-reduction process | 17q22 |
| COL10A1 | skeletal system development | 6q21-q22 |
| COL11A1 | embryonic skeletal system morphogenesis; cartilage condensation; ossification; chondrocyte development; heart morphogenesis; proteoglycan metabolic process; cell adhesion; visual perception; sensory perception of sound; extracellular matrix organization; collagen fibril organization; inner ear morphogenesis; detection of mechanical stimulus involved in sensory perception of sound; ventricular cardiac muscle tissue morphogenesis | 1p21 |
| COL11A2 | skeletal system development; cell adhesion; sensory perception of sound; collagen fibril organization; cartilage development; palate development; soft palate development | 6p21.3 |
| COL11A2P1 | - | 6p21.32 |
| COL12A1 | collagen fibril organization; cell adhesion; skeletal system development | 6q12-q13 |
| COL13A1 | cell differentiation; cell-cell adhesion; multicellular organismal development; ossification; morphogenesis of a branching structure; endochondral ossification; cell-matrix adhesion | 10q22 |
| COL14A1 | extracellular matrix organization; cell-cell adhesion; collagen fibril organization | 8q23 |
| COL15A1 | cell differentiation; multicellular organismal development; signal transduction; cell adhesion; angiogenesis | 9q21-q22 |
| COL16A1 | cellular response to amino acid stimulus; female pregnancy; integrin-mediated signaling pathway; cell adhesion | 1p35-p34 |
| COL17A1 | cell-matrix adhesion; epidermis development; hemidesmosome assembly; cell junction assembly | 10q24.3 |
| COL18A1 | negative regulation of cell proliferation; organ morphogenesis; visual perception; cell adhesion | 21q22.3 |
| COL18A1-AS1 | - | 21q22.3 |
| COL19A1 | skeletal system development; cell adhesion; multicellular organismal development; muscle organ development; skeletal muscle tissue development; cell-cell adhesion; cell differentiation; extracellular matrix organization | 6q12-q13 |
| COL1A1 | response to inorganic substance; sensory perception of sound; visual perception; blood coagulation; response to nutrient; axon guidance; endochondral ossification; intramembranous ossification; osteoblast differentiation; blood vessel development; embryonic skeletal system development; skeletal system development; negative regulation of cell-substrate adhesion; leukocyte migration; response to cAMP; face morphogenesis; bone trabecula formation; cartilage development involved in endochondral bone morphogenesis; protein heterotrimerization; cellular response to amino acid stimulus; cellular response to mechanical stimulus; cellular response to retinoic acid; cellular response to growth factor stimulus; positive regulation of canonical Wnt receptor signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of epithelial to mesenchymal transition; protein transport; platelet activation; collagen fibril organization; positive regulation of cell migration; response to corticosteroid | 17q21.33 |
| COL1A2 | skeletal system development; Rho protein signal transduction; blood vessel development; transforming growth factor beta receptor signaling pathway; axon guidance; blood coagulation; regulation of blood pressure; platelet activation; collagen fibril organization; odontogenesis; skin morphogenesis; leukocyte migration; protein heterotrimerization; cellular response to amino acid stimulus | 7q22.1 |
| COL20A1 | cell adhesion | 20q13.33 |
| COL21A1 | cell adhesion | 6p12.3-p11.2|6p12.3-p11.2 |
| COL22A1 | cell adhesion | 8q24.3 |
| COL23A1 | protein homotrimerization | 5q35.3 |
| COL24A1 | cell adhesion | 1p22.3 |
| COL25A1 | - | 4q25 |
| COL26A1 | - | 7q22.1 |
| COL27A1 | cell adhesion | 9q32 |
| COL28A1 | cell adhesion | 7p21.3 |
| COL2A1 | sensory perception of sound; cartilage development involved in endochondral bone morphogenesis; bone development; embryonic skeletal joint morphogenesis; limb bud formation; palate development; cartilage development; negative regulation of apoptotic process; inner ear morphogenesis; notochord development; collagen fibril organization; regulation of gene expression; otic vesicle development; visual perception; central nervous system development; axon guidance; proteoglycan metabolic process; heart morphogenesis; chondrocyte differentiation; endochondral ossification; tissue homeostasis; ossification; cartilage condensation; skeletal system development | 12q13.11 |
| COL3A1 | skeletal system development; cellular response to amino acid stimulus; negative regulation of immune response; digestive tract development; skin development; fibril organization; wound healing; response to cytokine stimulus; collagen biosynthetic process; collagen fibril organization; platelet activation; peptide cross-linking; response to radiation; heart development; axon guidance; integrin-mediated signaling pathway; transforming growth factor beta receptor signaling pathway; cell-matrix adhesion; blood vessel development | 2q31 |
| COL4A1 | neuromuscular junction development; epithelial cell differentiation; cellular response to amino acid stimulus; axon guidance; angiogenesis | 13q34 |
| COL4A2 | transcription, DNA-dependent; axon guidance; negative regulation of angiogenesis; extracellular matrix organization; cellular response to transforming growth factor beta stimulus | 13q34 |
| COL4A2-AS2 | - | 13q34 |
| COL4A3 | glomerular basement membrane development; negative regulation of angiogenesis; response to glucose stimulus; negative regulation of cell proliferation; cell proliferation; blood circulation; sensory perception of sound; axon guidance; cell surface receptor signaling pathway; cell adhesion; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis | 2q36-q37 |
| COL4A3BP | ER to Golgi ceramide transport; sphingolipid biosynthetic process; response to endoplasmic reticulum stress; small molecule metabolic process; lipid homeostasis; mitochondrion morphogenesis; cell proliferation; immune response; signal transduction; endoplasmic reticulum organization; muscle contraction; lipid transport; transport; ceramide metabolic process; sphingolipid metabolic process; protein phosphorylation; heart morphogenesis; in utero embryonic development; cell morphogenesis | 5q13.3 |
| COL4A4 | axon guidance; glomerular basement membrane development | 2q35-q37 |
| COL4A5 | axon guidance | Xq22 |
| COL4A6 | cell adhesion; extracellular matrix organization; cellular response to amino acid stimulus | Xq22 |
| COL5A1 | skin development; regulation of cellular component organization; eye morphogenesis; integrin biosynthetic process; fibril organization; wound healing, spreading of epidermal cells; collagen biosynthetic process; cell migration; axon guidance; cell adhesion; heart morphogenesis; blood vessel development; collagen fibril organization | 9q34.2-q34.3 |
| COL5A1-AS1 | - | 9q34.3 |
| COL5A2 | collagen fibril organization; cellular response to amino acid stimulus; eye morphogenesis; skin development; axon guidance; skeletal system development | 2q14-q32 |
| COL5A3 | cell adhesion; skin development; collagen fibril organization; cell-matrix adhesion | 19p13.2 |
| COL6A1 | cell adhesion; axon guidance; protein heterotrimerization; cellular response to amino acid stimulus | 21q22.3 |
| COL6A2 | extracellular matrix organization; protein heterotrimerization; cell-cell adhesion; response to glucose stimulus; axon guidance | 21q22.3 |
| COL6A3 | cell adhesion; axon guidance; muscle organ development; response to glucose stimulus | 2q37 |
| COL6A4P1 | - | 3p25.1 |
| COL6A4P2 | - | 3q22.1 |
| COL6A5 | cell adhesion | 3q22.1 |
| COL6A6 | cell adhesion | 3q22.1 |
| COL7A1 | cell adhesion; epidermis development | 3p21.1 |
| COL8A1 | angiogenesis; cell adhesion; positive regulation of cell-substrate adhesion; camera-type eye morphogenesis; epithelial cell proliferation | 3q12.3 |
| COL8A2 | cell-cell adhesion; epithelial cell proliferation; camera-type eye morphogenesis; extracellular matrix organization; angiogenesis | 1p34.2 |
| COL9A1 | tissue homeostasis; chondrocyte differentiation; growth plate cartilage development; cell adhesion; axon guidance; organ morphogenesis | 6q13 |
| COL9A2 | skeletal system development; axon guidance | 1p33-p32 |
| COL9A3 | axon guidance | 20q13.3 |
| COLCA1 | - | 11q23.1 |
| COLCA2 | - | 11q23.1 |
| COLEC10 | - | 8q23-q24.1 |
| COLEC11 | developmental process; multicellular organismal development | 2p25.3 |
| COLEC12 | innate immune response; protein homooligomerization; pattern recognition receptor signaling pathway; carbohydrate mediated signaling; defense response; phagocytosis, recognition | 18pter-p11.3 |
| COLGALT1 | - | 19p13.11 |
| COLGALT2 | - | 1q25 |
| COLQ | neurotransmitter catabolic process; asymmetric protein localization; acetylcholine catabolic process in synaptic cleft | 3p25 |
| COMMD1 | negative regulation of NF-kappaB transcription factor activity; copper ion homeostasis; regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein ubiquitination | 2p15 |
| COMMD10 | - | 5q23.1 |
| COMMD2 | - | 3q25.1 |
| COMMD3 | - | 10p12.2 |
| COMMD4 | - | 15q24.2 |
| COMMD5 | cell cycle arrest | 8q24.3 |
| COMMD6 | - | 13q22 |
| COMMD7 | tumor necrosis factor-mediated signaling pathway; negative regulation of transcription, DNA-dependent; negative regulation of NF-kappaB transcription factor activity | 20q11.21 |
| COMMD8 | - | 4p12 |
| COMMD9 | - | 11p13 |
| COMP | growth plate cartilage development; apoptotic process; anti-apoptosis; cell adhesion; organ morphogenesis; limb development; skeletal system development | 19p13.1 |
| COMT | methylation; female pregnancy; synaptic transmission; xenobiotic metabolic process; response to organic cyclic compound; learning; estrogen metabolic process; positive regulation of homocysteine metabolic process; negative regulation of smooth muscle cell proliferation; multicellular organismal reproductive process; negative regulation of dopamine metabolic process; response to drug; dopamine catabolic process; neurotransmitter biosynthetic process; neurotransmitter catabolic process; response to lipopolysaccharide; response to pain; small molecule metabolic process | 22q11.21 |
| COMTD1 | - | 10q22.2 |
| COPA | cellular membrane organization; intracellular protein transport; retrograde vesicle-mediated transport, Golgi to ER; pancreatic juice secretion; vesicle-mediated transport; COPI coating of Golgi vesicle | 1q23.2 |
| COPB1 | interspecies interaction between organisms; intracellular protein transport; retrograde vesicle-mediated transport, Golgi to ER; intra-Golgi vesicle-mediated transport; cellular membrane organization; COPI coating of Golgi vesicle; vesicle-mediated transport | 11p15.2 |
| COPB2 | retrograde vesicle-mediated transport, Golgi to ER; intracellular protein transport; COPI coating of Golgi vesicle; vesicle-mediated transport; cellular membrane organization; intra-Golgi vesicle-mediated transport | 3q23 |
| COPE | cellular membrane organization; protein transport; vesicle-mediated transport; COPI coating of Golgi vesicle; intra-Golgi vesicle-mediated transport; retrograde vesicle-mediated transport, Golgi to ER | 19p13.11 |
| COPG1 | retrograde vesicle-mediated transport, Golgi to ER; cellular membrane organization; vesicle-mediated transport; COPI coating of Golgi vesicle; intracellular protein transport | 3q21.3 |
| COPG2 | vesicle-mediated transport; intracellular protein transport; intra-Golgi vesicle-mediated transport; retrograde vesicle-mediated transport, Golgi to ER | 7q32 |
| COPG2IT1 | - | 7q32 |
| COPRS | - | 17q11.2 |
| COPS2 | cullin deneddylation; signal transduction; transcription from RNA polymerase II promoter | 15q21.2 |
| COPS3 | in utero embryonic development; signal transduction; response to light stimulus; cullin deneddylation | 17p11.2 |
| COPS4 | cullin deneddylation | 4q21.22 |
| COPS5 | regulation of JNK cascade; translational initiation; translation; transcription from RNA polymerase II promoter; proteolysis; cullin deneddylation; positive regulation of transcription from RNA polymerase II promoter; regulation of cell cycle; protein deneddylation | 8q13.1 |
| COPS5P1 | - | 6q16.1 |
| COPS6 | cullin deneddylation; interspecies interaction between organisms | 7q22.1 |
| COPS7A | cullin deneddylation | 12p13.31 |
| COPS7B | cullin deneddylation | 2q37.1 |
| COPS8 | cullin deneddylation | 2q37.3 |
| COPS8P2 | - | 3p14.1 |
| COPZ1 | vesicle-mediated transport; intracellular protein transport; retrograde vesicle-mediated transport, Golgi to ER; intra-Golgi vesicle-mediated transport; cellular membrane organization; COPI coating of Golgi vesicle | 12q13.2-q13.3 |
| COPZ2 | vesicle-mediated transport; intracellular protein transport | 17q21.32 |
| COQ10A | - | 12q13.3 |
| COQ10B | - | 2q33.1 |
| COQ2 | isoprenoid biosynthetic process; glycerol metabolic process; biosynthetic process; ubiquinone biosynthetic process | 4q21.23 |
| COQ3 | metabolic process; ubiquinone biosynthetic process; glycerol metabolic process | 6q16.2 |
| COQ4 | ubiquinone biosynthetic process | 9q34.11 |
| COQ5 | ubiquinone biosynthetic process | 12q24.31 |
| COQ6 | ubiquinone biosynthetic process | 14q24.3 |
| COQ7 | response to drug; in utero embryonic development; neural tube formation; ubiquinone biosynthetic process; determination of adult lifespan; neurogenesis; age-dependent response to oxidative stress; mitochondrial ATP synthesis coupled electron transport; respiratory electron transport chain; cellular response to oxidative stress; mitochondrion morphogenesis | 16p12.3 |
| COQ9 | ubiquinone biosynthetic process | 16q21 |
| CORIN | peptide hormone processing; regulation of systemic arterial blood pressure by atrial natriuretic peptide; proteolysis | 4p13-p12 |
| CORO1A | T cell homeostasis; cell-substrate adhesion; response to cytokine stimulus; regulation of actin filament polymerization; positive regulation of T cell proliferation; uropod organization; innate immune response; leukocyte chemotaxis; positive regulation of cell migration; actin cytoskeleton organization; regulation of cell shape; actin filament organization; cellular component movement; phagocytosis; calcium ion transport; homeostasis of number of cells within a tissue; positive chemotaxis; negative regulation of actin nucleation; phagolysosome assembly | 16p11.2 |
| CORO1B | actin cytoskeleton organization | 11q13.2 |
| CORO1C | phagocytosis; signal transduction; actin cytoskeleton organization | 12q24.1 |
| CORO2A | intracellular signal transduction; actin cytoskeleton organization | 9q22.3 |
| CORO2B | actin cytoskeleton organization | 15q23 |
| CORO6 | actin cytoskeleton organization | 17q11.2 |
| CORO7 | actin cytoskeleton organization | 16p13.3 |
| COTL1 | defense response to fungus | 16q24.1 |
| COTL1P1 | - | 17p11.2 |
| COTL1P2 | - | 17p11.1 |
| COX10 | heme O biosynthetic process; cellular respiration; cytochrome complex assembly; aerobic respiration; respiratory chain complex IV assembly; heme a biosynthetic process; mitochondrial electron transport, cytochrome c to oxygen; mitochondrial fission | 17p12 |
| COX10-AS1 | - | - |
| COX11 | respiratory chain complex IV assembly; respiratory gaseous exchange | 17q22 |
| COX11P1 | - | 6p23-p22 |
| COX14 | mitochondrial respiratory chain complex IV assembly | 12q13.12 |
| COX15 | respiratory gaseous exchange; oxidation-reduction process; cellular respiration; respiratory chain complex IV assembly; mitochondrial electron transport, cytochrome c to oxygen; heme a biosynthetic process | 10q24 |
| COX16 | - | 14q24.2 |
| COX17 | generation of precursor metabolites and energy; heart development; copper ion transport; brain development | 3q13.33 |
| COX17P1 | - | 13q14.13 |
| COX18 | protein transport; respiratory chain complex IV assembly; protein insertion into mitochondrial membrane | 4q13.3 |
| COX19 | - | 7p22.3 |
| COX20 | - | 1q44 |
| COX20P2 | - | 2q37.1 |
| COX4I1 | generation of precursor metabolites and energy; response to nutrient; small molecule metabolic process; respiratory electron transport chain | 16q24.1 |
| COX4I1P2 | - | 13q14.13 |
| COX4I2 | generation of precursor metabolites and energy; cellular respiration; oxidation-reduction process | 20q11.21 |
| COX5A | small molecule metabolic process; respiratory electron transport chain | 15q24.1 |
| COX5AP1 | - | 14q22 |
| COX5AP2 | - | 14q22.1 |
| COX5B | small molecule metabolic process; respiratory electron transport chain; respiratory gaseous exchange | 2q11.2 |
| COX5BP2 | - | 6q23.3 |
| COX5BP6 | - | 13q32.3 |
| COX6A1 | small molecule metabolic process; respiratory electron transport chain; generation of precursor metabolites and energy | 12q24.2|12q24.2 |
| COX6A2 | generation of precursor metabolites and energy | 16p11.12 |
| COX6B1 | oxidation-reduction process; small molecule metabolic process; respiratory electron transport chain | 19q13.1 |
| COX6B1P2 | - | 17q21.32 |
| COX6B1P3 | - | 22q13.2 |
| COX6B1P6 | - | - |
| COX6B2 | - | 19q13.42 |
| COX6C | respiratory electron transport chain; generation of precursor metabolites and energy; small molecule metabolic process | 8q22.2 |
| COX6CP1 | - | 16p12 |
| COX6CP3 | - | 18p11.32 |
| COX6CP4 | - | 15q14 |
| COX6CP6 | - | 3p13 |
| COX7A1 | generation of precursor metabolites and energy | 19q13.1 |
| COX7A2 | - | 6q12 |
| COX7A2L | small molecule metabolic process; respiratory electron transport chain | 2p21 |
| COX7A2P2 | - | 4q22.3 |
| COX7B | respiratory electron transport chain; small molecule metabolic process | Xq21.1 |
| COX7B2 | - | 4p12 |
| COX7BP1 | - | 22q13 |
| COX7C | generation of precursor metabolites and energy; respiratory electron transport chain; small molecule metabolic process | 5q14 |
| COX8A | respiratory electron transport chain; small molecule metabolic process; generation of precursor metabolites and energy | 11q12-q13 |
| CP | transmembrane transport; ion transport; cellular iron ion homeostasis; copper ion transport | 3q23-q25 |
| CPA1 | proteolysis | 7q32 |
| CPA2 | vacuolar protein catabolic process; proteolysis | 7q32 |
| CPA3 | proteolysis | 3q24 |
| CPA4 | histone acetylation; proteolysis | 7q32 |
| CPA5 | metabolic process; proteolysis | 7q32 |
| CPA6 | proteolysis | 8q13.2 |
| CPAMD8 | - | 19p13.11 |
| CPB1 | proteolysis | 3q24 |
| CPB2 | proteolysis; blood coagulation; metabolic process; response to heat; response to drug; negative regulation of fibrinolysis | 13q14.11 |
| CPB2-AS1 | - | - |
| CPD | proteolysis; cellular response to interleukin-2 | 17q11.2 |
| CPE | insulin processing; cardiac left ventricle morphogenesis; protein modification process; neuropeptide signaling pathway; metabolic process; protein localization in membrane; proteolysis | 4q32.3 |
| CPEB1 | regulation of translation; mRNA processing | 15q25.2 |
| CPEB2 | regulation of translation | 4p15.33 |
| CPEB3 | - | 10q23.32 |
| CPEB4 | - | 5q21 |
| CPED1 | - | 7q31.31 |
| CPHL1P | - | 3q25.1 |
| CPLX1 | transmembrane transport; insulin secretion; synaptic vesicle exocytosis; glutamate secretion; neurotransmitter secretion; synaptic transmission; exocytosis | 4p16.3 |
| CPLX2 | vesicle docking involved in exocytosis; cell differentiation; positive regulation of synaptic plasticity; mast cell degranulation; synaptic vesicle exocytosis; nervous system development; neurotransmitter transport | 5q35.2 |
| CPLX4 | regulation of neurotransmitter secretion; exocytosis; neurotransmitter transport | 18q21.32 |
| CPM | proteolysis; anatomical structure morphogenesis | 12q14.3 |
| CPN1 | proteolysis; metabolic process; response to glucocorticoid stimulus | 10q24.2 |
| CPN2 | protein stabilization; regulation of catalytic activity | 3q29 |
| CPNE1 | lipid metabolic process; vesicle-mediated transport | 20q11.22 |
| CPNE2 | - | 16q13 |
| CPNE3 | lipid metabolic process; vesicle-mediated transport | 8q21.3 |
| CPNE4 | - | 3q22.1 |
| CPNE5 | - | 6p21.1 |
| CPNE6 | vesicle-mediated transport; lipid metabolic process; synaptic transmission; nervous system development | 14q11.2 |
| CPNE7 | lipid metabolic process; transport | 16q24.3 |
| CPNE8 | - | 12q12 |
| CPNE9 | - | 3p25.3 |
| CPO | proteolysis | 2q33.3 |
| CPOX | response to iron ion; response to lead ion; response to insecticide; small molecule metabolic process; response to methylmercury; response to arsenic-containing substance; heme biosynthetic process; protoporphyrinogen IX biosynthetic process; porphyrin-containing compound metabolic process | 3q12 |
| CPP | - | 8q21.3 |
| CPPED1 | - | 16p13.12 |
| CPQ | proteolysis; peptide metabolic process; tissue regeneration | 8q22.2 |
| CPS1 | cellular response to oleic acid; response to dexamethasone stimulus; cellular response to glucagon stimulus; cellular response to cAMP; glycogen catabolic process; response to amino acid stimulus; small molecule metabolic process; cellular response to fibroblast growth factor stimulus; positive regulation of vasodilation; nitric oxide metabolic process; response to steroid hormone stimulus; homocysteine metabolic process; anion homeostasis; response to growth hormone stimulus; hepatocyte differentiation; urea cycle; carbamoyl phosphate biosynthetic process; response to starvation; glutamine catabolic process; nitrogen compound metabolic process; midgut development; response to toxin; response to zinc ion; citrulline biosynthetic process; triglyceride catabolic process; response to food; response to lipopolysaccharide; cellular nitrogen compound metabolic process; response to drug | 2q35 |
| CPS1-IT1 | - | 2q34 |
| CPSF1 | nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; mRNA 3'-end processing; gene expression; RNA splicing; mRNA export from nucleus; mRNA processing; mRNA cleavage; mRNA polyadenylation; termination of RNA polymerase II transcription | 8q24.23 |
| CPSF1P1 | - | 22q12.3 |
| CPSF2 | RNA splicing; gene expression; mRNA export from nucleus; histone mRNA 3'-end processing; mRNA processing; termination of RNA polymerase II transcription; nuclear mRNA splicing, via spliceosome; mRNA 3'-end processing; transcription from RNA polymerase II promoter | 14q31.1 |
| CPSF3 | mRNA export from nucleus; termination of RNA polymerase II transcription; mRNA polyadenylation; mRNA cleavage; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; mRNA 3'-end processing; RNA splicing; gene expression; histone mRNA 3'-end processing; mRNA processing | 2p25.1 |
| CPSF3L | - | 1p36.33 |
| CPSF4 | modification by virus of host mRNA processing; interspecies interaction between organisms; viral infectious cycle; modulation by virus of host cellular process; virus-host interaction; mRNA processing | 7q22.1 |
| CPSF4L | - | 17q25.1 |
| CPSF6 | mRNA polyadenylation; mRNA processing; protein tetramerization | 12q15 |
| CPSF7 | protein tetramerization; mRNA 3'-end processing; gene expression; RNA splicing; mRNA processing; nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription | 11q12.2 |
| CPT1A | long-chain fatty acid metabolic process; protein homooligomerization; regulation of insulin secretion; regulation of fatty acid oxidation; small molecule metabolic process; cellular lipid metabolic process; eating behavior; response to drug; positive regulation of fatty acid beta-oxidation; response to organic cyclic compound; carnitine shuttle; transport; triglyceride metabolic process; fatty acid beta-oxidation; glucose metabolic process | 11q13.2 |
| CPT1C | fatty acid metabolic process; lipid metabolic process; carnitine metabolic process | 19q13.33 |
| CPT2 | regulation of fatty acid oxidation; fatty acid metabolic process; fatty acid beta-oxidation; transport; carnitine shuttle; cellular lipid metabolic process; small molecule metabolic process | 1p32 |
| CPTP | - | 1p36.33 |
| CPVL | proteolysis | 7p15.1 |
| CPXCR1 | - | Xq21.3 |
| CPXM1 | cell adhesion; proteolysis | 20p13 |
| CPXM2 | cell adhesion; proteolysis | 10q26.13 |
| CPZ | proteolysis; Wnt receptor signaling pathway | 4p16.1 |
| CR1 | positive regulation of serine-type endopeptidase activity; negative regulation of serine-type endopeptidase activity; negative regulation of complement activation, classical pathway; negative regulation of complement activation, alternative pathway; innate immune response | 1q32 |
| CR1L | negative regulation of complement activation | 1q32.1 |
| CR2 | immune response; complement activation, classical pathway; complement receptor mediated signaling pathway; innate immune response | 1q32 |
| CRABP1 | signal transduction; multicellular organismal development | 15q24 |
| CRABP2 | retinoic acid metabolic process; regulation of transcription, DNA-dependent; signal transduction; epidermis development; embryonic forelimb morphogenesis | 1q21.3 |
| CRACR2A | positive regulation of calcium ion transport; activation of store-operated calcium channel activity; ion transport; store-operated calcium entry | 12p13.32 |
| CRACR2B | store-operated calcium entry | 11p15.5 |
| CRADD | regulation of apoptotic process; cellular response to mechanical stimulus; induction of apoptosis via death domain receptors; signal transduction; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; induction of apoptosis | 12q21.33-q23.1 |
| CRAMP1 | - | 16p13.3 |
| CRAT | small molecule metabolic process; cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase; transport; fatty acid metabolic process | 9q34.1 |
| CRB1 | establishment or maintenance of cell polarity; cell-cell signaling; cellular membrane organization; eye photoreceptor cell development | 1q31-q32.1 |
| CRB2 | - | 9q33.3 |
| CRB3 | tight junction assembly; cell junction assembly; cell-cell junction organization; protein localization in plasma membrane | 19p13.3 |
| CRBN | proteolysis; protein ubiquitination; positive regulation of protein homodimerization activity; proteasomal ubiquitin-dependent protein catabolic process; negative regulation of ion transmembrane transport; negative regulation of protein homooligomerization | 3p26.2 |
| CRCP | transcription from RNA polymerase III promoter; innate immune response; cellular metabolic process; response to virus; acrosome reaction; neuropeptide signaling pathway; inflammatory response; response to stress | 7q11.21 |
| CRCT1 | - | 1q21 |
| CREB1 | TRIF-dependent toll-like receptor signaling pathway; positive regulation of multicellular organism growth; response to drug; regulation of circadian rhythm; cell differentiation; regulation of apoptotic process; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; positive regulation of transforming growth factor beta3 production; synaptic transmission; interspecies interaction between organisms; innate immune response; positive regulation of fat cell differentiation; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; positive regulation of hormone secretion; positive regulation of lipid biosynthetic process; nerve growth factor receptor signaling pathway; phosphatidylinositol-mediated signaling; protein stabilization; stress-activated MAPK cascade; negative regulation of transcription by competitive promoter binding; cellular respon | 2q34 |
| CREB3 | regulation of cell proliferation; interspecies interaction between organisms; negative regulation of cell cycle; positive regulation of transcription, DNA-dependent; induction of positive chemotaxis; positive regulation of calcium ion transport; positive regulation of cell migration; reactivation of latent virus; chemotaxis; transcription, DNA-dependent | 9p13.3 |
| CREB3L1 | response to unfolded protein | 11p11.2 |
| CREB3L2 | chondrocyte differentiation; cartilage development; positive regulation of transcription, DNA-dependent; response to endoplasmic reticulum stress; response to unfolded protein; ER to Golgi vesicle-mediated transport | 7q34 |
| CREB3L3 | response to unfolded protein | 19p13.3 |
| CREB3L4 | spermatogenesis; positive regulation of transcription from RNA polymerase II promoter; response to unfolded protein | 1q21.3 |
| CREB5 | transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent | 7p15.1 |
| CREBBP | negative regulation of transcription from RNA polymerase II promoter; protein complex assembly; regulation of transcription, DNA-dependent; response to hypoxia; histone acetylation; signal transduction; Notch signaling pathway; cell proliferation; regulation of smoothened signaling pathway; gene expression; germ-line stem cell maintenance; regulation of S phase; homeostatic process; embryonic digit morphogenesis; cellular lipid metabolic process; small molecule metabolic process; interspecies interaction between organisms; innate immune response; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; N-terminal peptidyl-lysine acetylation | 16p13.3 |
| CREBL2 | positive regulation of transcription, DNA-dependent; protein stabilization; positive regulation of lipid biosynthetic process; positive regulation of glucose import; positive regulation of fat cell differentiation; cell differentiation; transcription, DNA-dependent; signal transduction; cell cycle; regulation of transcription, DNA-dependent; positive regulation of peptidyl-serine phosphorylation | 12p13 |
| CREBRF | - | 5q35.1 |
| CREBZF | transcription, DNA-dependent; response to virus; negative regulation of gene expression, epigenetic; negative regulation of transcription, DNA-dependent; regulation of sequence-specific DNA binding transcription factor activity | 11q14 |
| CREG1 | regulation of growth; regulation of transcription from RNA polymerase II promoter; multicellular organismal development; cell proliferation | 1q24 |
| CREG2 | - | 2q11.2 |
| CRELD1 | endocardial cushion development; cardiac septum development | 3p25.3 |
| CRELD2 | - | 22q13.33 |
| CREM | cell differentiation; spermatogenesis; multicellular organismal development; signal transduction; regulation of transcription, DNA-dependent | 10p11.21 |
| CRH | locomotory exploration behavior; regulation of N-methyl-D-aspartate selective glutamate receptor activity; positive regulation of cortisol secretion; neuroprotection; negative regulation of circadian sleep/wake cycle, REM sleep; adrenal gland development; lung development; positive regulation of circadian sleep/wake cycle, wakefulness; induction of apoptosis by hormones; feeding behavior; learning or memory; long-term memory; glucocorticoid biosynthetic process; response to stress; inflammatory response; signal transduction; synaptic transmission; female pregnancy; parturition; synaptic transmission, dopaminergic | 8q13 |
| CRHBP | behavioral response to ethanol; regulation of behavior; regulation of corticotropin secretion; negative regulation of corticotropin secretion; cellular response to calcium ion; cellular response to cocaine; cellular response to cAMP; cellular response to tumor necrosis factor; cellular response to estrogen stimulus; cellular response to estradiol stimulus; cellular response to gonadotropin-releasing hormone; negative regulation of corticotropin-releasing hormone receptor activity; regulation of N-methyl-D-aspartate selective glutamate receptor activity; hormone metabolic process; synaptic transmission, dopaminergic; maternal aggressive behavior; inflammatory response; signal transduction; female pregnancy; behavior; hormone-mediated signaling pathway; cellular response to stress; cellular response to drug; cellular response to potassium ion; regulated secretory pathway; learning or memory | 5q11.2-q13.3 |
| CRHR1 | memory; visual learning; epithelial cell differentiation; negative regulation of appetite; eating behavior; positive regulation of mast cell degranulation; activation of adenylate cyclase activity by G-protein signaling pathway; neuroprotection; behavioral response to pain; long-term synaptic potentiation; cellular response to corticotropin-releasing hormone stimulus; female pregnancy; parturition; response to hypoxia; immune response; G-protein coupled receptor signaling pathway; G-protein signaling, coupled to cAMP nucleotide second messenger; activation of adenylate cyclase activity; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; elevation of cytosolic calcium ion concentration; neuropeptide signaling pathway | 17q12-q22 |
| CRHR1-IT1 | - | 17q21.31 |
| CRHR2 | G-protein signaling, coupled to cAMP nucleotide second messenger; cellular response to corticotropin-releasing hormone stimulus | 7p14.3 |
| CRIM1 | nervous system development; insulin-like growth factor receptor signaling pathway; regulation of cell growth | 2p21 |
| CRIP1 | prostate gland stromal morphogenesis; cellular response to UV-B; cellular response to antibiotic; regulation of gene expression; response to zinc ion; cell proliferation; apoptotic process; heart development; immune response; response to organic substance | 14q32.33 |
| CRIP1P4 | - | 22q11.2 |
| CRIP2 | positive regulation of cell proliferation; hemopoiesis | 14q32.3 |
| CRIP3 | - | 6p21.1 |
| CRIPAK | regulation of cytoskeleton organization; response to estrogen stimulus; negative regulation of protein kinase activity; negative regulation of intracellular estrogen receptor signaling pathway | 4p16.3 |
| CRIPT | cytoplasmic microtubule organization; establishment of protein localization | 2p21 |
| CRISP1 | fusion of sperm to egg plasma membrane | 6p21.3 |
| CRISP2 | - | 6p12.3 |
| CRISP3 | defense response; innate immune response | 6p12.3 |
| CRISPLD1 | - | 8q21.11 |
| CRISPLD2 | - | 16q24.1 |
| CRK | platelet activation; ephrin receptor signaling pathway; nerve growth factor receptor signaling pathway; regulation of Rac protein signal transduction; regulation of actin cytoskeleton organization; regulation of Rho GTPase activity; insulin receptor signaling pathway; blood coagulation; regulation of transcription from RNA polymerase II promoter; activation of MAPKK activity | 17p13.3 |
| CRKL | parathyroid gland development; JNK cascade; thymus development; intracellular signal transduction; anterior/posterior pattern specification; heart development; pattern specification process; Ras protein signal transduction; blood vessel development; organ morphogenesis | 22q11.21 |
| CRLF1 | ureteric bud development; positive regulation of cell proliferation; positive regulation of tyrosine phosphorylation of Stat3 protein; negative regulation of neuron apoptosis | 19p12 |
| CRLF2 | - | Xp22.3; Yp11.3 |
| CRLF3 | positive regulation of cell cycle arrest; positive regulation of JAK-STAT cascade; negative regulation of cell growth; positive regulation of transcription from RNA polymerase II promoter; negative regulation of S phase of mitotic cell cycle; positive regulation of transcription, DNA-dependent | 17q11.2 |
| CRLS1 | phospholipid biosynthetic process | 20p13-p12.3 |
| CRMP1 | nucleobase-containing compound metabolic process; pyrimidine base catabolic process; nervous system development; axon guidance | 4p16.1 |
| CRNDE | - | 16q12.2 |
| CRNKL1 | nuclear mRNA splicing, via spliceosome; RNA splicing; RNA processing; spliceosome assembly | 20p11.2 |
| CROCC | cell cycle; protein localization; cell projection organization; centrosome organization | 1p36.13 |
| CROCCP1 | - | Xq26.3 |
| CROCCP2 | - | 1p36.13 |
| CROCCP3 | - | 1p36.13 |
| CROCCP4 | - | - |
| CROT | fatty acid beta-oxidation using acyl-CoA oxidase; small molecule metabolic process; transport; fatty acid beta-oxidation; fatty acid metabolic process; cellular lipid metabolic process | 7q21.1 |
| CRP | negative regulation of lipid storage; protein polymerization; negative regulation of macrophage derived foam cell differentiation; response to lead ion; complement activation, classical pathway; inflammatory response; acute-phase response; response to hypoxia; opsonization | 1q23.2 |
| CRTAC1 | - | 10q22 |
| CRTAM | positive regulation of cytokine secretion; T cell mediated cytotoxicity; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target; detection of stimulus; activated T cell proliferation; regulation of immune response; detection of tumor cell; positive regulation of natural killer cell mediated cytotoxicity; cell recognition | 11q24.1 |
| CRTAP | spermatogenesis | 3p22.3 |
| CRTC1 | regulation of transcription, DNA-dependent; positive regulation of CREB transcription factor activity; interspecies interaction between organisms; positive regulation of transcription from RNA polymerase II promoter; protein homotetramerization | 19p13.11 |
| CRTC2 | protein homotetramerization; gluconeogenesis; regulation of transcription, DNA-dependent; interspecies interaction between organisms; glucose homeostasis; positive regulation of CREB transcription factor activity | 1q21.3 |
| CRTC3 | protein homotetramerization; interspecies interaction between organisms; positive regulation of CREB transcription factor activity; regulation of transcription, DNA-dependent | 15q26.1 |
| CRX | positive regulation of transcription from RNA polymerase II promoter; retina development in camera-type eye; response to stimulus; organ morphogenesis; visual perception; multicellular organismal development; regulation of transcription, DNA-dependent | 19q13.3 |
| CRY1 | negative regulation of transcription from RNA polymerase II promoter; DNA repair; regulation of transcription, DNA-dependent; blue light signaling pathway; protein-chromophore linkage; regulation of circadian rhythm; response to stimulus | 12q23-q24.1 |
| CRY2 | negative regulation of transcription from RNA polymerase II promoter; photoreactive repair; DNA repair; regulation of transcription, DNA-dependent; protein import into nucleus; blue light signaling pathway; protein-chromophore linkage; regulation of circadian rhythm; response to stimulus | 11p11.2 |
| CRYAB | protein folding; protein homooligomerization; negative regulation of intracellular transport; muscle contraction; anti-apoptosis | 11q22.3-q23.1 |
| CRYBA2 | - | 2q35 |
| CRYBA4 | visual perception; camera-type eye development | 22q12.1 |
| CRYBB1 | visual perception | 22q12.1 |
| CRYBB2 | visual perception; camera-type eye development; response to stimulus | 22q11.23 |
| CRYBB2P1 | - | 22q11.2-q12.1 |
| CRYBB3 | visual perception | 22q11.23 |
| CRYBG3 | - | 3q11.2 |
| CRYGA | lens development in camera-type eye; visual perception; eye development | 2q34 |
| CRYGFP | - | 2q34 |
| CRYGGP | - | 2p16.3 |
| CRYGS | morphogenesis of an epithelium; lens development in camera-type eye | 3q27.3 |
| CRYL1 | fatty acid metabolic process | 13q12.11 |
| CRYM | sensory perception of sound; thyroid hormone transport; negative regulation of transcription from RNA polymerase II promoter | 16p12.2 |
| CRYM-AS1 | - | 16p12.2 |
| CRYZ | visual perception; xenobiotic catabolic process; protein homotetramerization | 1p31.1 |
| CRYZL1 | quinone cofactor metabolic process | 21q21.3 |
| CS | small molecule metabolic process; cellular carbohydrate metabolic process; citrate metabolic process; tricarboxylic acid cycle; acetyl-CoA metabolic process; oxaloacetate metabolic process; carbohydrate metabolic process | 12q13.2 |
| CSAD | sulfur amino acid metabolic process; sulfur amino acid catabolic process; carboxylic acid metabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 12q13.11-q14.3 |
| CSAG1 | - | Xq28 |
| CSAG3 | - | Xq28 |
| CSAG4 | - | Xq28 |
| CSDC2 | mRNA processing; histone mRNA 3'-end processing; regulation of transcription, DNA-dependent | 22q13.2 |
| CSDE1 | male gonad development; regulation of transcription, DNA-dependent | 1p22 |
| CSE1L | intracellular protein transport; apoptotic process; cell proliferation | 20q13 |
| CSF1 | positive regulation of multicellular organism growth; monocyte activation; odontogenesis; positive regulation of odontogenesis of dentin-containing tooth; positive regulation of macrophage differentiation; positive regulation of monocyte differentiation; positive regulation of osteoclast differentiation; positive regulation of protein kinase activity; positive regulation of Ras protein signal transduction; homeostasis of number of cells within a tissue; branching involved in mammary gland duct morphogenesis; mammary gland fat development; mammary duct terminal end bud growth; innate immune response; positive regulation of cellular protein metabolic process; positive regulation of cell-matrix adhesion; positive regulation of mononuclear cell proliferation; developmental process involved in reproduction; inflammatory response; cell proliferation; positive regulation of cell proliferation; positive regulation of gene expression; regulation of macrophage derived foam cell differentiation; hemopoiesis; cell differ | 1p13.3 |
| CSF1R | positive regulation of tyrosine phosphorylation of Stat3 protein; innate immune response; regulation of bone resorption; cell-cell junction maintenance; phosphatidylinositol metabolic process; protein autophosphorylation; phosphatidylinositol-mediated signaling; mammary gland duct morphogenesis; positive regulation of protein tyrosine kinase activity; positive regulation of ERK1 and ERK2 cascade; cellular response to cytokine stimulus; positive regulation of protein serine/threonine kinase activity; positive regulation of chemokine secretion; positive regulation of cell motility; regulation of actin cytoskeleton reorganization; macrophage differentiation; ruffle organization; positive regulation of protein phosphorylation; inflammatory response; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; multicellular organismal development; cell proliferation; positive regulation of cell proliferation; regulation of cell shape; peptidyl-tyrosine phosphorylation; cytokine-mediated s | 5q32 |
| CSF2 | positive regulation of cell proliferation; dendritic cell differentiation; positive regulation of podosome assembly; negative regulation of cytolysis; positive regulation of survival gene product expression; positive regulation of DNA replication; negative regulation of apoptotic process; positive regulation of tyrosine phosphorylation of Stat5 protein; myeloid dendritic cell differentiation; embryonic placenta development; immune response; positive regulation of gene expression; positive regulation of macrophage derived foam cell differentiation; positive regulation of interleukin-23 production; epithelial fluid transport | 5q31.1 |
| CSF2RA | - | Xp22.32 and Yp11.3 |
| CSF2RB | signal transduction; respiratory gaseous exchange; cellular response to interleukin-3; interleukin-5-mediated signaling pathway | 22q13.1 |
| CSF3 | immune response; multicellular organismal development; positive regulation of cell proliferation; cytokine-mediated signaling pathway; granulocyte differentiation | 17q11.2-q12 |
| CSF3R | defense response; cell adhesion; signal transduction | 1p35-p34.3 |
| CSGALNACT1 | chondroitin sulfate biosynthetic process; cell proliferation; cell recognition; nervous system development; anatomical structure morphogenesis; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; UDP-N-acetylgalactosamine metabolic process; proteoglycan biosynthetic process; extracellular matrix organization; chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; heparin biosynthetic process; UDP-glucuronate metabolic process; chondroitin sulfate proteoglycan biosynthetic process; dermatan sulfate proteoglycan biosynthetic process | 8p21.3 |
| CSGALNACT2 | dermatan sulfate proteoglycan biosynthetic process; proteoglycan biosynthetic process; chondroitin sulfate proteoglycan biosynthetic process; dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | 10q11.21 |
| CSH1 | JAK-STAT cascade involved in growth hormone signaling pathway; signal transduction; female pregnancy | 17q24.2 |
| CSH2 | - | 17q24.2 |
| CSHL1 | - | 17q24.2 |
| CSK | protein phosphorylation; epidermal growth factor receptor signaling pathway; blood coagulation; negative regulation of cell proliferation; platelet activation; T cell costimulation; peptidyl-tyrosine dephosphorylation; T cell receptor signaling pathway | 15q24.1 |
| CSMD1 | - | 8p23.2 |
| CSMD2 | - | 1p34.3 |
| CSMD3 | - | 8q23.3 |
| CSN1S1 | - | 4q21.1 |
| CSN1S2AP | - | 4q13.3 |
| CSN1S2BP | - | 4q13.3 |
| CSN3 | lactation | 4q21.1 |
| CSNK1A1 | protein phosphorylation; cell cycle; mitosis; signal transduction; cell surface receptor signaling pathway; Wnt receptor signaling pathway; cell division | 5q32 |
| CSNK1A1L | Wnt receptor signaling pathway | 13q13.3 |
| CSNK1A1P1 | - | 15q14 |
| CSNK1D | G2/M transition of mitotic cell cycle; mitotic cell cycle; DNA repair; positive regulation of protein phosphorylation; protein phosphorylation; signal transduction; Wnt receptor signaling pathway; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; circadian regulation of gene expression; rhythmic process; spindle assembly; positive regulation of canonical Wnt receptor signaling pathway; regulation of circadian rhythm | 17q25 |
| CSNK1E | positive regulation of canonical Wnt receptor signaling pathway; cellular protein localization; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of Wnt receptor signaling pathway; signal transduction; protein phosphorylation; DNA repair; mitotic cell cycle; G2/M transition of mitotic cell cycle | 22q13.1 |
| CSNK1G1 | Wnt receptor signaling pathway | 15q22.1-q22.31 |
| CSNK1G2 | sphingolipid metabolic process; protein phosphorylation; signal transduction; Wnt receptor signaling pathway; sphingolipid biosynthetic process; small molecule metabolic process; protein autophosphorylation | 19p13.3 |
| CSNK1G3 | protein modification process; protein phosphorylation; signal transduction; Wnt receptor signaling pathway | 5q23 |
| CSNK2A1 | axon guidance; mitotic cell cycle spindle checkpoint; chaperone-mediated protein folding; regulation of catalytic activity; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of Wnt receptor signaling pathway; regulation of transcription, DNA-dependent; protein phosphorylation; protein autophosphorylation; cell cycle; signal transduction | 20p13 |
| CSNK2A2 | regulation of transcription, DNA-dependent; apoptotic process; axon guidance; Wnt receptor signaling pathway; regulation of cell cycle; mitotic cell cycle spindle checkpoint | 16q21 |
| CSNK2B | negative regulation of cell proliferation; regulation of DNA binding; cellular protein complex assembly; adiponectin-mediated signaling pathway; Wnt receptor signaling pathway; axon guidance; signal transduction | 6p21.3 |
| CSPG4 | neuron remodeling; positive regulation of peptidyl-tyrosine phosphorylation; tissue remodeling; neuron fate commitment; intracellular signal transduction; cell differentiation; multicellular organismal development; angiogenesis | 15q24.2 |
| CSPG4P11 | - | - |
| CSPG4P2Y | - | Yq11.23 |
| CSPG4P5 | - | 15q25.2 |
| CSPG5 | multicellular organismal development; nervous system development; cell differentiation; regulation of growth; intracellular transport; regulation of synaptic transmission | 3p21.3 |
| CSPP1 | positive regulation of cell cycle cytokinesis; positive regulation of cell division | 8q13.2 |
| CSRNP1 | palate development; apoptotic process; post-embryonic development; face morphogenesis; positive regulation of transcription from RNA polymerase II promoter; platelet-derived growth factor receptor signaling pathway; skeletal system morphogenesis | 3p22 |
| CSRNP2 | positive regulation of transcription from RNA polymerase II promoter; negative regulation of phosphatase activity; apoptotic process | 12q13.11-q13.12 |
| CSRNP3 | negative regulation of phosphatase activity; positive regulation of apoptotic process; positive regulation of transcription from RNA polymerase II promoter | 2q24.3 |
| CSRP1 | - | 1q32 |
| CSRP2 | multicellular organismal development; cell differentiation; myoblast differentiation | 12q21.1 |
| CSRP2BP | histone H3 acetylation; cell cycle process; embryo development | 20p11.23 |
| CSRP3 | cardiac muscle tissue development; cell differentiation; skeletal muscle tissue development; muscle organ development; multicellular organismal development; cellular calcium ion homeostasis; regulation of the force of heart contraction; blood vessel remodeling | 11p15.1 |
| CST1 | - | 20p11.21 |
| CST13P | - | 20p11.21 |
| CST2 | - | 20p11.21 |
| CST2P1 | - | 20p11.21 |
| CST3 | eye development; response to estradiol stimulus; regulation of tissue remodeling; response to hypoxia; cell activation; apoptotic process; brain development; cellular response to oxidative stress; response to drug; circadian sleep/wake cycle, REM sleep; regulation of programmed cell death; fibril organization; positive regulation of DNA replication; response to axon injury; response to stimulus; Sertoli cell development; negative regulation of elastin catabolic process; negative regulation of blood vessel remodeling; negative regulation of cell death; cellular response to hydrogen peroxide; defense response; negative regulation of endopeptidase activity; positive regulation of cell proliferation; response to organic cyclic compound; embryo implantation; salivary gland development; male gonad development; response to toxin; response to carbohydrate stimulus; negative regulation of peptidase activity; negative regulation of histolysis; negative regulation of extracellular matrix disassembly; response to nutrien | 20p11.21 |
| CST4 | - | 20p11.21 |
| CST6 | epidermis development; anatomical structure morphogenesis | 11q13 |
| CST7 | negative regulation of endopeptidase activity; immune response | 20p11.21 |
| CST8 | - | 20p11.21 |
| CSTA | keratinocyte differentiation; negative regulation of peptidase activity; cell-cell adhesion; peptide cross-linking | 3q21 |
| CSTB | adult locomotory behavior; negative regulation of peptidase activity; negative regulation of endopeptidase activity; regulation of apoptotic process | 21q22.3 |
| CSTF1 | nuclear mRNA splicing, via spliceosome; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; mRNA cleavage; RNA processing; mRNA processing; RNA splicing; gene expression; mRNA 3'-end processing; mRNA polyadenylation | 20q13.2 |
| CSTF2 | transcription from RNA polymerase II promoter; mRNA 3'-end processing; gene expression; RNA splicing; mRNA processing; mRNA cleavage; mRNA polyadenylation; termination of RNA polymerase II transcription; nuclear mRNA splicing, via spliceosome | Xq22.1 |
| CSTF2T | mRNA processing | 10q11 |
| CSTF3 | mRNA 3'-end processing; gene expression; RNA splicing; mRNA processing; RNA processing; mRNA cleavage; mRNA polyadenylation; termination of RNA polymerase II transcription; transcription from RNA polymerase II promoter; nuclear mRNA splicing, via spliceosome | 11p13 |
| CSTF3-AS1 | - | 11p13 |
| CSTL1 | - | 20p11.21 |
| CT45A5 | - | Xq26.3 |
| CT47B1 | - | Xq24 |
| CT55 | - | Xq26.3 |
| CT62 | - | 15q23 |
| CT83 | - | Xq23 |
| CTAG1A | - | Xq28 |
| CTAG2 | - | Xq28 |
| CTAGE1 | - | 18p11.2 |
| CTAGE11P | - | 13q22.2 |
| CTAGE12P | - | 9p21.2 |
| CTAGE3P | - | 13q14.3 |
| CTAGE4 | - | 7q35 |
| CTAGE5 | positive regulation of catalytic activity | 14q13.3 |
| CTAGE6 | - | 7q35 |
| CTAGE9 | - | 6q23.2 |
| CTBP1 | oxidation-reduction process; negative regulation of transcription from RNA polymerase II promoter; protein phosphorylation; negative regulation of cell proliferation; viral genome replication; cell differentiation; positive regulation of histone deacetylation; regulation of transcription by chromatin organization; negative regulation of histone acetylation; interspecies interaction between organisms; negative regulation of transcription, DNA-dependent; white fat cell differentiation; regulation of cell cycle; negative regulation of histone H4 acetylation | 4p16 |
| CTBP1-AS2 | - | 4p16.3 |
| CTBP2 | viral genome replication; negative regulation of cell proliferation; cell differentiation; negative regulation of transcription, DNA-dependent; oxidation-reduction process; white fat cell differentiation | 10q26.13 |
| CTBP2P2 | - | 10q23.33 |
| CTBP2P3 | - | 18q21.32 |
| CTBP2P4 | - | 5q15 |
| CTBP2P5 | - | 2p16.3 |
| CTBP2P7 | - | 19q13.12 |
| CTBS | carbohydrate metabolic process; chitin catabolic process; oligosaccharide catabolic process | 1p22 |
| CTC-338M12.4 | - | 5q35.3 |
| CTC1 | telomere maintenance; positive regulation of DNA replication | 17p13.1 |
| CTCF | regulation of gene expression by genetic imprinting; chromosome segregation; maintenance of DNA methylation; positive regulation of gene expression; chromatin modification; nucleosome positioning; regulation of histone methylation; regulation of histone acetylation; regulation of gene expression, epigenetic; regulation of molecular function, epigenetic; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; regulation of centromeric sister chromatid cohesion | 16q21-q22.3 |
| CTCFL | histone methylation; DNA methylation involved in gamete generation; chromatin modification; positive regulation of gene expression; cell cycle; regulation of gene expression by genetic imprinting; positive regulation of transcription, DNA-dependent; regulation of histone H3-K4 methylation | 20q13.31 |
| CTD-2194D22.4 | - | 5p15.33 |
| CTD-2201I18.1 | - | 5q14.1 |
| CTDNEP1 | protein dephosphorylation; protein localization to nucleus; positive regulation of triglyceride biosynthetic process; nuclear envelope organization | 17p13 |
| CTDP1 | positive regulation of viral transcription; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; protein dephosphorylation; gene expression; viral reproduction | 18q23 |
| CTDSP1 | negative regulation of neuron differentiation; protein dephosphorylation; regulation of transcription from RNA polymerase II promoter; negative regulation of neurogenesis | 2q35 |
| CTDSP2 | activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response; protein dephosphorylation | 12q14.1 |
| CTDSPL | - | 3p21.3 |
| CTDSPL2 | - | 15q15.3-q21.1 |
| CTF1 | neuron development; cell-cell signaling; nervous system development; muscle organ development; cell proliferation; positive regulation of cell proliferation; leukemia inhibitory factor signaling pathway | 16p11.2 |
| CTGF | positive regulation of cell death; response to fatty acid; positive regulation of ERK1 and ERK2 cascade; response to organic cyclic compound; small molecule metabolic process; cellular lipid metabolic process; response to peptide hormone stimulus; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; response to amino acid stimulus; intracellular signal transduction; response to anoxia; positive regulation of collagen biosynthetic process; response to estradiol stimulus; lung development; extracellular matrix constituent secretion; positive regulation of gene expression; organ senescence; response to glucose stimulus; response to wounding; epidermis development; positive regulation of cell proliferation; cell adhesion; DNA replication; positive regulation of protein phosphorylation; regulation of cell growth; positive regulation of JNK cascade; positive regulation of cell activation; response to mineralocorticoid stimulus; positive regulation of stress fiber assembly; cyto | 6q23.1 |
| CTGLF10P | - | 10q11.22 |
| CTGLF11P | regulation of ARF GTPase activity | 10q11.22 |
| CTGLF12P | - | 10q11.22 |
| CTGLF9P | - | 10q11.22 |
| CTH | negative regulation of cell growth; sulfur amino acid metabolic process; sulfur amino acid catabolic process; cysteine metabolic process; glutathione metabolic process; negative regulation of cell proliferation; cellular amino acid biosynthetic process; protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine; cysteine biosynthetic process; transsulfuration; cellular nitrogen compound metabolic process; small molecule metabolic process; protein homotetramerization; hydrogen sulfide biosynthetic process | 1p31.1 |
| CTHRC1 | establishment of planar polarity involved in neural tube closure; cell migration; positive regulation of protein binding; Wnt receptor signaling pathway, planar cell polarity pathway; inner ear receptor stereocilium organization; negative regulation of canonical Wnt receptor signaling pathway; cochlea morphogenesis | 8q22.3 |
| CTIF | regulation of translational initiation; RNA metabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 18q21.1 |
| CTLA4 | immune response; response to DNA damage stimulus; negative regulation of B cell proliferation; T cell costimulation; positive regulation of apoptotic process; negative regulation of regulatory T cell differentiation; B cell receptor signaling pathway | 2q33 |
| CTNNA1 | aging; odontogenesis of dentin-containing tooth; regulation of cell proliferation; adherens junction organization; cell junction assembly; axon regeneration; gap junction assembly; response to organic cyclic compound; male gonad development; response to estrogen stimulus; negative regulation of neuroblast proliferation; establishment or maintenance of cell polarity; muscle cell differentiation; negative regulation of apoptotic process; apical junction assembly; cell-cell junction organization; positive regulation of smoothened signaling pathway; positive regulation of muscle cell differentiation; cellular response to indole-3-methanol; cell adhesion; ovarian follicle development | 5q31.2 |
| CTNNA1P1 | - | 5q22 |
| CTNNA2 | cell-cell adhesion; axonogenesis; prepulse inhibition; regulation of synapse structural plasticity; positive regulation of muscle cell differentiation; brain morphogenesis; dendrite morphogenesis; muscle cell differentiation; radial glia guided migration of Purkinje cell; multicellular organismal development | 2p12-p11.1 |
| CTNNA3 | cell-cell adhesion | 10q22.2 |
| CTNNAL1 | Rho protein signal transduction; cell adhesion | 9q31.2 |
| CTNNB1 | cell maturation; oviduct development; synaptic vesicle transport; thymus development; embryonic hindlimb morphogenesis; oocyte development; embryonic foregut morphogenesis; regulation of smooth muscle cell proliferation; negative regulation of oligodendrocyte differentiation; synapse organization; smooth muscle cell differentiation; positive regulation of muscle cell differentiation; determination of dorsal/ventral asymmetry; regulation of fibroblast proliferation; response to cadmium ion; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; positive regulation of anti-apoptosis; regulation of angiogenesis; positive regulation of fibroblast growth factor receptor signaling pathway; negative regulation of osteoclast differentiation; positive regulation of osteoblast differentiation; positive regulation of endothelial cell differentiation; bone resorption; canonical Wnt receptor signaling p | 3p21 |
| CTNNBIP1 | negative regulation of smooth muscle cell proliferation; positive regulation of osteoblast differentiation; positive regulation of monocyte differentiation; negative regulation of sequence-specific DNA binding transcription factor activity; negative regulation of transcription initiation from RNA polymerase II promoter; negative regulation of mesenchymal cell proliferation; negative regulation of DNA binding; negative regulation of protein binding; negative regulation of Wnt receptor signaling pathway; negative regulation of protein complex assembly; negative regulation of transcription from RNA polymerase II promoter; anterior/posterior pattern specification; branching involved in ureteric bud morphogenesis; regulation of vascular permeability involved in acute inflammatory response | 1p36.22 |
| CTNNBL1 | somatic diversification of immunoglobulins; positive regulation of apoptotic process | 20q11.23-q12 |
| CTNND1 | epithelial cell differentiation involved in salivary gland development; morphogenesis of a polarized epithelium; regulation of transcription, DNA-dependent; cell adhesion; salivary gland morphogenesis; Wnt receptor signaling pathway; cell-cell adhesion; keratinocyte differentiation; cell junction assembly; adherens junction organization; cell-cell junction organization; negative regulation of canonical Wnt receptor signaling pathway | 11q11 |
| CTNND2 | morphogenesis of a branching structure; regulation of transcription, DNA-dependent; cell adhesion; neuron cell-cell adhesion; signal transduction; multicellular organismal development; learning; regulation of synaptic plasticity | 5p15.2 |
| CTNS | cellular amino acid metabolic process; glutathione metabolic process; transport; brain development; L-cystine transport; ATP metabolic process; cognition | 17p13 |
| CTPS1 | pyrimidine nucleotide biosynthetic process; nucleobase-containing compound metabolic process; CTP biosynthetic process; glutamine metabolic process; nucleobase-containing small molecule interconversion; response to drug; small molecule metabolic process; nucleobase-containing small molecule metabolic process | 1p34.1 |
| CTPS2 | pyrimidine nucleotide metabolic process; pyrimidine nucleotide biosynthetic process; glutamine metabolic process; nucleobase-containing small molecule interconversion; small molecule metabolic process; nucleobase-containing small molecule metabolic process | Xp22 |
| CTR9 | histone monoubiquitination; histone H2B ubiquitination | 11p15.3 |
| CTRB2 | proteolysis; digestion | 16q23.1 |
| CTRC | proteolysis | 1p36.21 |
| CTRL | proteolysis; digestion | 16q22.1 |
| CTSA | small molecule metabolic process; positive regulation of catalytic activity; intracellular protein transport; glycosphingolipid metabolic process; sphingolipid metabolic process; proteolysis | 20q13.1 |
| CTSB | proteolysis; autophagy; cellular response to thyroid hormone stimulus; response to interleukin-4; negative regulation of cell death; regulation of catalytic activity; response to ethanol; response to peptide hormone stimulus; regulation of apoptotic process; response to amine stimulus; response to organic cyclic compound; response to glucose stimulus; response to mechanical stimulus; response to wounding; skeletal muscle tissue development | 8p22 |
| CTSC | response to organic substance; aging; immune response; proteolysis | 11q14.2 |
| CTSD | proteolysis; cell death | 11p15.5 |
| CTSE | digestion; proteolysis; antigen processing and presentation of exogenous peptide antigen via MHC class II | 1q31 |
| CTSF | proteolysis | 11q13 |
| CTSG | proteolysis; immune response; response to lipopolysaccharide; negative regulation of growth of symbiont in host; positive regulation of immune response; defense response to fungus; neutrophil mediated killing of gram-positive bacterium | 14q11.2 |
| CTSH | proteolysis; positive regulation of angiogenesis; metanephros development; T cell mediated cytotoxicity; adaptive immune response; immune response-regulating signaling pathway; positive regulation of cell proliferation; surfactant homeostasis; negative regulation of apoptotic process; membrane protein proteolysis; response to retinoic acid; protein destabilization; zymogen activation; positive regulation of cell migration; antigen processing and presentation; positive regulation of peptidase activity; bradykinin catabolic process; neuropeptide catabolic process; positive regulation of epithelial cell migration; positive regulation of gene expression; dichotomous subdivision of terminal units involved in lung branching; ERK1 and ERK2 cascade; cellular response to thyroid hormone stimulus | 15q25.1 |
| CTSK | intramembranous ossification; proteolysis; bone resorption | 1q21 |
| CTSL | - | 9q21.33 |
| CTSL3P | - | 9q21.33 |
| CTSLP2 | - | 10q11.22 |
| CTSLP4 | - | 10q11.23 |
| CTSLP6 | - | 10q22.3 |
| CTSLP7 | - | 10q11.22 |
| CTSO | proteolysis | 4q32.1 |
| CTSS | adaptive immune response; antigen processing and presentation of peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; proteolysis; immune response; antigen processing and presentation; antigen processing and presentation of exogenous peptide antigen via MHC class I; cellular response to thyroid hormone stimulus | 1q21 |
| CTSV | - | 9q22.2 |
| CTSW | proteolysis; immune response | 11q13.1 |
| CTSZ | proteolysis; epithelial tube branching involved in lung morphogenesis | 20q13.32 |
| CTTN | - | 11q13 |
| CTTNBP2 | brain development | 7q31 |
| CTTNBP2NL | - | 1p13.2 |
| CTU1 | tRNA processing; tRNA thio-modification; tRNA wobble uridine modification | 19q13.41 |
| CTU2 | tRNA processing; tRNA thio-modification; tRNA wobble uridine modification | 16q24.3 |
| CTXN1 | - | 19p13.2 |
| CUBN | cholesterol metabolic process; steroid metabolic process; hemoglobin import; lipoprotein metabolic process; vitamin D metabolic process; lipoprotein transport; small molecule metabolic process; protein homotrimerization; response to nutrient; receptor-mediated endocytosis; lipid metabolic process; tissue homeostasis; in utero embryonic development; cobalamin transport | 10p12.31 |
| CUBNP3 | - | - |
| CUEDC1 | - | 17q23.2 |
| CUEDC2 | - | 10q24.32 |
| CUL1 | S phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; G1 phase of mitotic cell cycle; ubiquitin-dependent protein catabolic process; apoptotic process; cell cycle arrest; negative regulation of cell proliferation; induction of apoptosis by intracellular signals; regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle; interspecies interaction between organisms; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; organ morphogenesis; protein ubiquitination; mitotic cell cycle | 7q36.1 |
| CUL2 | protein catabolic process; G1/S transition of mitotic cell cycle; ubiquitin-dependent protein catabolic process; cell cycle arrest; negative regulation of cell proliferation; induction of apoptosis by intracellular signals; interspecies interaction between organisms | 10p11.21 |
| CUL3 | cell morphogenesis; anaphase; proteasomal ubiquitin-dependent protein catabolic process; stress fiber assembly; negative regulation of Rho protein signal transduction; protein ubiquitination; cell migration; Wnt receptor signaling pathway; positive regulation of cell proliferation; mitotic anaphase; G1/S transition of mitotic cell cycle; cytokinesis; in utero embryonic development; trophectodermal cellular morphogenesis; cell cycle arrest; gastrulation; induction of apoptosis by intracellular signals; cyclin catabolic process | 2q36.2 |
| CUL4A | regulation of protein metabolic process; positive regulation of S phase of mitotic cell cycle; interspecies interaction between organisms; induction of apoptosis by intracellular signals; negative regulation of cell proliferation; regulation of mitotic cell cycle; cell cycle arrest; ubiquitin-dependent protein catabolic process; DNA repair; G1/S transition of mitotic cell cycle | 13q34 |
| CUL4AP1 | - | 4q26 |
| CUL4B | cell cycle; ubiquitin-dependent protein catabolic process; DNA repair | Xq23 |
| CUL5 | calcium ion transmembrane transport; G1/S transition of mitotic cell cycle; ubiquitin-dependent protein catabolic process; response to osmotic stress; cell cycle arrest; cell proliferation; negative regulation of cell proliferation; induction of apoptosis by intracellular signals; viral reproduction; interspecies interaction between organisms; cytosolic calcium ion homeostasis | 11q22.3 |
| CUL7 | activation of signaling protein activity involved in unfolded protein response; ubiquitin-dependent protein catabolic process; proteolysis; vasculogenesis; interspecies interaction between organisms; endoplasmic reticulum unfolded protein response | 6p21.1 |
| CUL9 | ubiquitin-dependent protein catabolic process | 6p21.1 |
| CUTA | response to metal ion; protein localization | 6p21.32 |
| CUTC | protein tetramerization; copper ion transport; copper ion homeostasis | 10q24.2 |
| CUX1 | lung development; negative regulation of transcription from RNA polymerase II promoter; retrograde transport, vesicle recycling within Golgi; regulation of transcription from RNA polymerase II promoter; transport; intra-Golgi vesicle-mediated transport; multicellular organismal development; auditory receptor cell differentiation | 7q22.1 |
| CUX2 | negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent | 12q24.12 |
| CUZD1 | hormone-mediated signaling pathway; trypsinogen activation; cell division; substrate-dependent cell migration, cell attachment to substrate; cell cycle; cell adhesion; cell proliferation | 10q26.13 |
| CWC15 | nuclear mRNA splicing, via spliceosome; RNA splicing | 11q21 |
| CWC22 | nuclear mRNA splicing, via spliceosome; RNA splicing; RNA metabolic process; regulation of nuclear mRNA splicing, via spliceosome | 2q31.3 |
| CWC25 | - | 17q12 |
| CWC27 | nuclear mRNA splicing, via spliceosome; protein folding | 5q12.3 |
| CWF19L1 | - | 10q24.31 |
| CWF19L2 | - | 11q22.3 |
| CWH43 | GPI anchor biosynthetic process | 4p11 |
| CX3CL1 | negative regulation of apoptotic process; positive regulation of cell migration; platelet activation; cytokine-mediated signaling pathway; positive regulation of macrophage chemotaxis; immune response; defense response; chemotaxis; response to hypoxia; neutrophil chemotaxis; leukocyte chemotaxis; positive regulation of transforming growth factor beta1 production; positive regulation of angiogenesis; positive regulation of cell adhesion; negative regulation of vasoconstriction; lymphocyte chemotaxis; positive regulation of smooth muscle cell proliferation; negative regulation of cytokine secretion; positive regulation of inflammatory response; leukocyte adhesive activation; positive regulation of calcium-independent cell-cell adhesion; angiogenesis involved in wound healing; regulation of inhibitory postsynaptic membrane potential | 16q13 |
| CX3CR1 | negative regulation of cell migration; cellular response to transforming growth factor beta stimulus; cellular response to lipopolysaccharide; macrophage chemotaxis; positive regulation of angiogenesis; interspecies interaction between organisms; negative regulation of apoptotic process; cerebral cortex cell migration; negative regulation of angiogenesis; response to wounding; G-protein coupled receptor signaling pathway; cell adhesion; cellular defense response; chemotaxis; microglial cell activation involved in immune response | 3p21.3 |
| CXADR | negative regulation of cardiac muscle cell proliferation; epithelial structure maintenance; germ cell migration; blood coagulation; heart development; heterophilic cell-cell adhesion; cell adhesion; mitochondrion organization; transepithelial transport; atrioventricular node impulse conduction delay; defense response to virus; leukocyte migration; regulation of immune response; cardiac muscle fiber development; cell-cell junction organization; interspecies interaction between organisms; homotypic cell-cell adhesion; actin cytoskeleton reorganization; neutrophil chemotaxis | 21q21.1 |
| CXADRP2 | - | 15q11.2 |
| CXADRP3 | - | 18p11.21 |
| CXCL1 | G-protein coupled receptor signaling pathway; positive regulation of catalytic activity; intracellular signal transduction; actin cytoskeleton organization; negative regulation of cell proliferation; cell proliferation; nervous system development; signal transduction; immune response; inflammatory response; chemotaxis | 4q21 |
| CXCL10 | response to vitamin D; chemotaxis; defense response to virus; cellular response to heat; cell surface receptor signaling pathway; response to lipopolysaccharide; positive regulation of cell migration; negative regulation of angiogenesis; response to auditory stimulus; response to gamma radiation; response to cold; protein secretion; positive regulation of cell proliferation; blood circulation; muscle organ development; cell-cell signaling; positive regulation of leukocyte chemotaxis; signal transduction; immune response; inflammatory response | 4q21 |
| CXCL11 | cell-cell signaling; signal transduction; immune response; inflammatory response; chemotaxis | 4q21.2 |
| CXCL12 | negative regulation of apoptotic process; negative regulation of leukocyte apoptosis; positive regulation of monocyte chemotaxis; chemokine-mediated signaling pathway; cellular calcium ion homeostasis; response to virus; regulation of actin polymerization or depolymerization; blood circulation; G-protein coupled receptor signaling pathway; signal transduction; cell adhesion; immune response; chemotaxis | 10q11.1 |
| CXCL14 | chemotaxis; immune response; signal transduction; cell-cell signaling | 5q31 |
| CXCL16 | positive regulation of cell migration; response to tumor necrosis factor; response to interferon-gamma; lymphocyte chemotaxis; receptor-mediated endocytosis; chemotaxis; response to cytokine stimulus; positive regulation of cell growth | 17p13 |
| CXCL17 | angiogenesis; chemotaxis; multicellular organismal development; cell differentiation | 19q13.2 |
| CXCL2 | inflammatory response; immune response; chemotaxis; response to molecule of bacterial origin | 4q21 |
| CXCL3 | chemotaxis; inflammatory response; immune response; neutrophil chemotaxis | 4q21 |
| CXCL5 | positive regulation of cell proliferation; cell-cell signaling; signal transduction; immune response; chemotaxis | 4q13.3 |
| CXCL6 | inflammatory response; immune response; signal transduction; cell-cell signaling; chemotaxis | 4q13.3 |
| CXCL8 | induction of positive chemotaxis; signal transduction; cell cycle arrest; activation of signaling protein activity involved in unfolded protein response; immune response; inflammatory response; chemotaxis; cellular component movement; positive regulation of neutrophil chemotaxis; cellular response to tumor necrosis factor; cellular response to interleukin-1; cellular response to lipopolysaccharide; negative regulation of cell proliferation; embryonic digestive tract development; negative regulation of G-protein coupled receptor protein signaling pathway; regulation of retroviral genome replication; cellular response to fibroblast growth factor stimulus; neutrophil activation; angiogenesis; response to molecule of bacterial origin; G-protein coupled receptor signaling pathway; calcium-mediated signaling; regulation of cell adhesion; neutrophil chemotaxis; endoplasmic reticulum unfolded protein response; receptor internalization; intracellular signal transduction | 4q13-q21 |
| CXCL9 | inflammatory response; defense response to virus; cell-cell signaling; G-protein coupled receptor signaling pathway; signal transduction; cellular defense response; immune response; chemotaxis; defense response | 4q21 |
| CXCR1 | cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; dendritic cell chemotaxis; inflammatory response; chemotaxis; receptor internalization | 2q35 |
| CXCR2 | cell surface receptor signaling pathway; signal transduction; dendritic cell chemotaxis; chemotaxis; inflammatory response; neutrophil activation; receptor internalization; neutrophil chemotaxis; positive regulation of cell proliferation; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; cellular defense response | 2q35 |
| CXCR2P1 | - | 2q35 |
| CXCR3 | cellular component movement; chemotaxis; cell adhesion; elevation of cytosolic calcium ion concentration | Xq13 |
| CXCR4 | response to virus; elevation of cytosolic calcium ion concentration; G-protein coupled receptor signaling pathway; inflammatory response; apoptotic process; dendritic cell chemotaxis; viral reproduction; initiation of viral infection; calcium-mediated signaling; entry into host cell; myelin maintenance; interspecies interaction between organisms; positive regulation of oligodendrocyte differentiation; regulation of chemotaxis; response to hypoxia; activation of MAPK activity | 2q21 |
| CXCR5 | B cell activation; G-protein coupled receptor signaling pathway; cellular component movement; lymph node development | 11q23.3 |
| CXCR6 | viral genome replication; G-protein coupled receptor signaling pathway | 3p21 |
| CXorf21 | - | Xp21.2 |
| CXorf22 | - | Xp21.1 |
| CXorf23 | - | Xp22.12 |
| CXorf24 | - | Xp11.23 |
| CXorf30 | - | Xp21.1 |
| CXorf36 | - | Xp11.3 |
| CXorf38 | - | Xp11.4 |
| CXorf40A | - | Xq28 |
| CXorf40B | - | Xq28 |
| CXorf51A | - | Xq27.3 |
| CXorf56 | - | Xq23 |
| CXorf57 | - | Xq22.3 |
| CXorf58 | - | Xp22.11 |
| CXorf65 | - | Xq13.1 |
| CXorf66 | - | Xq27.1 |
| CXorf67 | - | Xp11.22 |
| CXXC1 | endoplasmic reticulum unfolded protein response; positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent; histone H3-K4 methylation; activation of signaling protein activity involved in unfolded protein response | 18q12 |
| CXXC1P1 | - | Xp11.23 |
| CXXC4 | zygotic specification of dorsal/ventral axis; negative regulation of Wnt receptor signaling pathway | 4q22-q24 |
| CXXC5 | signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade | 5q31.2 |
| CYB561 | generation of precursor metabolites and energy; transport; electron transport chain | 17q23.3 |
| CYB561A3 | - | 11q12.2 |
| CYB561D1 | transport; electron transport chain | 1p13.3 |
| CYB561D2 | electron transport chain; transport | 3p21.3 |
| CYB5A | small molecule metabolic process; electron transport chain; L-ascorbic acid metabolic process; transport; water-soluble vitamin metabolic process; vitamin metabolic process | 18q23 |
| CYB5AP5 | - | 14q12 |
| CYB5B | transport; electron transport chain | 16q22.1 |
| CYB5D1 | - | 17p13.1 |
| CYB5D2 | nervous system development | 17p13.2 |
| CYB5R1 | sterol biosynthetic process | 1q32.1 |
| CYB5R2 | oxidation-reduction process; sterol biosynthetic process | 11p15.4 |
| CYB5R3 | cholesterol biosynthetic process; vitamin metabolic process; water-soluble vitamin metabolic process; blood circulation; L-ascorbic acid metabolic process; small molecule metabolic process | 22q13.2 |
| CYB5R4 | cell development; response to antibiotic; glucose homeostasis; insulin secretion; superoxide metabolic process; oxidation-reduction process; detection of oxygen; generation of precursor metabolites and energy | 6pter-q22.33 |
| CYB5RL | - | 1p32.3 |
| CYBA | positive regulation of endothelial cell proliferation; superoxide metabolic process; negative regulation of glomerular filtration by angiotensin; transport; cellular response to gamma radiation; cellular response to organic cyclic compound; cellular response to tumor necrosis factor; cellular response to glucose stimulus; cellular response to mechanical stimulus; cellular response to amino acid stimulus; response to interleukin-1; oxidation-reduction process; hydrogen peroxide biosynthetic process; respiratory burst; superoxide anion generation; innate immune response; inflammatory response; regulation of blood pressure; smooth muscle hypertrophy; cytochrome complex assembly; electron transport chain; positive regulation of cell growth; response to nutrient levels; response to drug | 16q24 |
| CYBB | oxidation-reduction process; hydrogen peroxide biosynthetic process; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; respiratory burst; innate immune response; antigen processing and presentation of exogenous peptide antigen via MHC class I; superoxide anion generation; electron transport chain; inflammatory response; ion transport; superoxide metabolic process; antigen processing and presentation of peptide antigen via MHC class I | Xp21.1 |
| CYBRD1 | electron transport chain; transmembrane transport; response to iron ion; cellular iron ion homeostasis | 2q31.1 |
| CYC1 | response to glucagon stimulus; transport; respiratory electron transport chain; small molecule metabolic process | 8q24.3 |
| CYCS | induction of apoptosis by intracellular signals; apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; transport; cellular respiration; DNA fragmentation involved in apoptotic nuclear change; small molecule metabolic process; respiratory electron transport chain | 7p15.3 |
| CYCSP1 | - | 14q24.3 |
| CYCSP10 | - | 3p25.3 |
| CYCSP12 | - | 3p25.2 |
| CYCSP20 | - | 7q32.1 |
| CYCSP28 | - | 11q14.1 |
| CYCSP29 | - | 11q22.3 |
| CYCSP3 | - | 8p12 |
| CYCSP30 | - | 12q21.32 |
| CYCSP38 | - | 15q21.3 |
| CYCSP39 | - | 16p12.1 |
| CYCSP43 | - | Xq13.1 |
| CYCSP49 | - | Yq11.223 |
| CYCSP52 | - | 1q22 |
| CYCSP53 | - | 1q23.3 |
| CYCSP55 | - | 6p21.31 |
| CYCSP6 | - | 2p12 |
| CYCSP8 | - | 2q21.1 |
| CYFIP1 | ruffle organization; multicellular organismal development; axon extension; regulation of cell shape; lamellipodium assembly; cell differentiation; nervous system development | 15q11 |
| CYFIP2 | apoptotic process; cell-cell adhesion | 5q33.3 |
| CYGB | transport; response to oxidative stress; oxygen transport | 17q25 |
| CYHR1 | - | 8q24.3 |
| CYLD | regulation of microtubule cytoskeleton organization; positive regulation of extrinsic apoptotic signaling pathway; protein K63-linked deubiquitination; negative regulation of canonical Wnt receptor signaling pathway; translation; proteolysis; ubiquitin-dependent protein catabolic process; induction of apoptosis; cell cycle; Wnt receptor signaling pathway; negative regulation of NF-kappaB transcription factor activity; negative regulation of type I interferon production; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; negative regulation of NF-kappaB import into nucleus; innate immune response; nucleotide-binding oligomerization domain containing signaling pathway; regulation of mitotic cell cycle | 16q12.1 |
| CYMP | - | 1p13.3 |
| CYP11A1 | maternal process involved in female pregnancy; granulosa cell differentiation; response to corticosterone stimulus; fractalkine metabolic process; cellular response to fibroblast growth factor stimulus; small molecule metabolic process; response to estrogen stimulus; response to alkaloid; response to hydrogen peroxide; response to drug; vitamin D metabolic process; response to genistein; response to fungicide; testosterone biosynthetic process; cellular response to lipopolysaccharide; cellular response to antibiotic; cellular response to cadmium ion; cellular response to cAMP; cellular response to interleukin-1; cellular response to tumor necrosis factor; cellular response to follicle-stimulating hormone stimulus; cellular response to peptide hormone stimulus; cellular response to transforming growth factor beta stimulus; phthalate metabolic process; Leydig cell differentiation; response to acid; organic acid metabolic process; C21-steroid hormone biosynthetic process; progesterone biosynthetic process; estro | 15q23-q24 |
| CYP11B1 | small molecule metabolic process; glucose homeostasis; cellular response to potassium ion; cortisol biosynthetic process; cellular response to hormone stimulus; aldosterone biosynthetic process; regulation of blood pressure; steroid metabolic process; immune response; response to stress; xenobiotic metabolic process; mineralocorticoid biosynthetic process; glucocorticoid biosynthetic process; C21-steroid hormone biosynthetic process; oxidation-reduction process | 8q21 |
| CYP11B2 | regulation of blood volume by renal aldosterone; sodium ion homeostasis; potassium ion homeostasis; small molecule metabolic process; cellular response to potassium ion; cortisol biosynthetic process; cellular response to hormone stimulus; aldosterone biosynthetic process; steroid metabolic process; xenobiotic metabolic process; mineralocorticoid biosynthetic process; C21-steroid hormone biosynthetic process; renal water homeostasis | 8q21-q22 |
| CYP17A1 | hippocampus development; response to fungicide; adrenal gland development; ovulation; response to nutrient levels; response to retinoic acid; Leydig cell differentiation; response to cytokine stimulus; response to drug; small molecule metabolic process; response to steroid hormone stimulus; response to cAMP; response to methylmercury; cellular response to lipopolysaccharide; cellular response to antibiotic; cellular response to gonadotropin stimulus; positive regulation of steroid hormone biosynthetic process; phenol-containing compound metabolic process; phthalate metabolic process; organic acid metabolic process; steroid biosynthetic process; androgen biosynthetic process; glucocorticoid biosynthetic process; xenobiotic metabolic process; sex differentiation; steroid metabolic process; response to acetate; response to ionizing radiation; response to herbicide; response to organic cyclic compound; response to insecticide; biphenyl metabolic process; dibenzo-p-dioxin metabolic process | 10q24.3 |
| CYP19A1 | adrenal gland development; granulocyte differentiation; response to estradiol stimulus; response to testosterone stimulus; progesterone metabolic process; response to organic cyclic compound; response to drug; response to morphine; small molecule metabolic process; cellular response to fibroblast growth factor stimulus; regulation of synapse structure and activity; oxidation-reduction process; bone development; prostate gland growth; cellular response to glucose stimulus; cellular response to follicle-stimulating hormone stimulus; cellular response to hydrostatic pressure; hypothalamus development; steroid biosynthetic process; estrogen biosynthetic process; xenobiotic metabolic process; steroid metabolic process; bile acid metabolic process; androgen metabolic process; male gonad development; response to herbicide; response to cesium ion; response to ionizing radiation; biphenyl metabolic process; dibenzo-p-dioxin metabolic process; phthalate metabolic process; hippocampus development; melatonin metabolic pr | 15q21.1 |
| CYP1A1 | coumarin metabolic process; response to hypoxia; porphyrin-containing compound metabolic process; xenobiotic metabolic process; cell proliferation; response to wounding; amine metabolic process; hepatocyte differentiation; maternal process involved in parturition; oxidation-reduction process; response to hyperoxia; hydrogen peroxide biosynthetic process; digestive tract development; response to arsenic-containing substance; response to antibiotic; positive regulation of S phase of mitotic cell cycle; small molecule metabolic process; cellular lipid metabolic process; camera-type eye development; 9-cis-retinoic acid biosynthetic process; response to drug; response to vitamin A; response to virus; response to nematode; response to herbicide; embryo development ending in birth or egg hatching; flavonoid metabolic process; response to iron(III) ion; response to organic cyclic compound; drug metabolic process; dibenzo-p-dioxin catabolic process; response to food; response to lipopolysaccharide; developmental proce | 15q24.1 |
| CYP1A2 | methylation; monocarboxylic acid metabolic process; drug catabolic process; exogenous drug catabolic process; small molecule metabolic process; cellular respiration; heterocycle metabolic process; hydrogen peroxide biosynthetic process; oxidation-reduction process; oxidative demethylation; oxidative deethylation; porphyrin-containing compound metabolic process; dibenzo-p-dioxin metabolic process; steroid catabolic process; cellular aromatic compound metabolic process; lung development; xenobiotic metabolic process; toxin biosynthetic process; post-embryonic development; alkaloid metabolic process; regulation of gene expression; monoterpenoid metabolic process; drug metabolic process | 15q24.1 |
| CYP1B1 | retina vasculature development in camera-type eye; oxidation-reduction process; small molecule metabolic process; endothelial cell migration; endothelial cell-cell adhesion; response to toxin; toxin metabolic process; estrogen metabolic process; visual perception; xenobiotic metabolic process; cellular aromatic compound metabolic process; angiogenesis; response to organic substance | 2p22.2 |
| CYP1B1-AS1 | - | 2p22.2 |
| CYP1D1P | - | 9q21.13 |
| CYP20A1 | - | 2q33.2 |
| CYP21A2 | steroid biosynthetic process; glucocorticoid biosynthetic process; mineralocorticoid biosynthetic process; xenobiotic metabolic process; steroid metabolic process; progesterone metabolic process; small molecule metabolic process; response to antibiotic; cellular response to peptide hormone stimulus | 6p21.3 |
| CYP24A1 | osteoblast differentiation; vitamin metabolic process; xenobiotic metabolic process; steroid metabolic process; response to vitamin D; vitamin D metabolic process; vitamin D catabolic process; vitamin D receptor signaling pathway; oxidation-reduction process; small molecule metabolic process | 20q13 |
| CYP26A1 | vitamin metabolic process; xenobiotic metabolic process; metabolic process; retinoic acid catabolic process; small molecule metabolic process; negative regulation of retinoic acid receptor signaling pathway | 10q23-q24 |
| CYP26B1 | positive regulation of gene expression; positive regulation of tongue muscle cell differentiation; cell fate determination; cellular response to retinoic acid; vitamin metabolic process; xenobiotic metabolic process; male meiosis; spermatogenesis; proximal/distal pattern formation; small molecule metabolic process; embryonic limb morphogenesis; retinoic acid catabolic process; tongue morphogenesis; oxidation-reduction process; negative regulation of retinoic acid receptor signaling pathway | 2p13.2 |
| CYP26C1 | retinoic acid catabolic process; oxidation-reduction process; central nervous system development; anterior/posterior pattern specification; neural crest cell development; xenobiotic metabolic process; small molecule metabolic process; organelle fusion; vitamin metabolic process; negative regulation of retinoic acid receptor signaling pathway | 10q23.33 |
| CYP27A1 | small molecule metabolic process; bile acid metabolic process; cholesterol metabolic process; bile acid biosynthetic process; xenobiotic metabolic process | 2q33-qter |
| CYP27B1 | response to interferon-gamma; negative regulation of cell growth; regulation of bone mineralization; response to lipopolysaccharide; response to vitamin D; negative regulation of calcidiol 1-monooxygenase activity; response to tumor necrosis factor; vitamin D metabolic process; vitamin D biosynthetic process; vitamin D catabolic process; response to estrogen stimulus; bone mineralization; small molecule metabolic process; positive regulation of keratinocyte differentiation; decidualization; calcium ion homeostasis; positive regulation of vitamin D 24-hydroxylase activity; xenobiotic metabolic process; calcium ion transport; steroid metabolic process; negative regulation of cell proliferation; vitamin metabolic process; positive regulation of vitamin D receptor signaling pathway; G1 to G0 transition | 12q13.1-q13.3 |
| CYP27C1 | - | 2q14.3 |
| CYP2A13 | small molecule metabolic process; xenobiotic metabolic process | 19q13.2 |
| CYP2A7 | - | 19q13.2 |
| CYP2AB1P | - | 3q27.1 |
| CYP2B6 | xenobiotic metabolic process; steroid metabolic process; drug metabolic process; cellular ketone metabolic process; exogenous drug catabolic process; small molecule metabolic process; oxidation-reduction process | 19q13.2 |
| CYP2B7P | oxidation-reduction process | 19q13.2 |
| CYP2C18 | xenobiotic metabolic process; small molecule metabolic process | 10q24 |
| CYP2C19 | steroid metabolic process; monoterpenoid metabolic process; drug metabolic process; exogenous drug catabolic process; small molecule metabolic process; heterocycle metabolic process; oxidation-reduction process; xenobiotic metabolic process | 10q24 |
| CYP2C8 | organic acid metabolic process; oxidative demethylation; oxidation-reduction process; small molecule metabolic process; exogenous drug catabolic process; drug metabolic process; xenobiotic metabolic process | 10q23.33 |
| CYP2C9 | urea metabolic process; monocarboxylic acid metabolic process; drug catabolic process; exogenous drug catabolic process; cellular amide metabolic process; small molecule metabolic process; oxidation-reduction process; oxidative demethylation; drug metabolic process; monoterpenoid metabolic process; steroid metabolic process; xenobiotic metabolic process | 10q24 |
| CYP2D6 | xenobiotic metabolic process; steroid metabolic process; coumarin metabolic process; alkaloid metabolic process; alkaloid catabolic process; monoterpenoid metabolic process; drug metabolic process; isoquinoline alkaloid metabolic process; drug catabolic process; small molecule metabolic process; heterocycle metabolic process; negative regulation of binding; oxidation-reduction process; oxidative demethylation; negative regulation of cellular organofluorine metabolic process | 22q13.1 |
| CYP2D8P1 | - | 22q13.2 |
| CYP2E1 | oxidation-reduction process; small molecule metabolic process; xenobiotic metabolic process; steroid metabolic process; monoterpenoid metabolic process; drug metabolic process; heterocycle metabolic process | 10q26.3 |
| CYP2F1 | oxidation-reduction process; xenobiotic metabolic process; response to toxin; naphthalene metabolic process; small molecule metabolic process | 19q13.2 |
| CYP2F1P | - | 19q13.2 |
| CYP2G1P | oxidation-reduction process | 19q13.2 |
| CYP2J2 | linoleic acid metabolic process; icosanoid metabolic process; xenobiotic metabolic process; regulation of heart contraction; epoxygenase P450 pathway; small molecule metabolic process | 1p31.3-p31.2 |
| CYP2R1 | vitamin metabolic process; small molecule metabolic process; vitamin D metabolic process; response to ionizing radiation; response to cesium ion; steroid metabolic process; xenobiotic metabolic process | 11p15.2 |
| CYP2S1 | xenobiotic metabolic process; small molecule metabolic process; oxidation-reduction process | 19q13.1 |
| CYP2T2P | - | 19q13.2 |
| CYP2T3P | - | 19q13.2 |
| CYP2U1 | small molecule metabolic process; xenobiotic metabolic process | 4q25 |
| CYP2W1 | small molecule metabolic process; xenobiotic metabolic process | 7p22.3 |
| CYP39A1 | small molecule metabolic process; bile acid metabolic process; digestion; xenobiotic metabolic process; cholesterol catabolic process; bile acid biosynthetic process; bile acid catabolic process | 6p21.1-p11.2 |
| CYP3A | - | 7q21.3-q22.1 |
| CYP3A4 | oxidative demethylation; lipid metabolic process; steroid catabolic process; xenobiotic metabolic process; steroid metabolic process; androgen metabolic process; monoterpenoid metabolic process; drug metabolic process; vitamin D metabolic process; drug catabolic process; exogenous drug catabolic process; small molecule metabolic process; heterocycle metabolic process; oxidation-reduction process; alkaloid catabolic process | 7q21.1 |
| CYP3A43 | oxidation-reduction process; xenobiotic metabolic process; small molecule metabolic process | 7q21.1 |
| CYP3A5 | xenobiotic metabolic process; oxidative demethylation; small molecule metabolic process; drug catabolic process; alkaloid catabolic process; steroid metabolic process | 7q21.1 |
| CYP3A7-CYP3A51P | - | 7q |
| CYP46A1 | nervous system development; small molecule metabolic process; bile acid metabolic process; xenobiotic metabolic process; cholesterol catabolic process; bile acid biosynthetic process | 14q32.1 |
| CYP4A22 | - | 1p33 |
| CYP4B1 | small molecule metabolic process; xenobiotic metabolic process | 1p34-p12 |
| CYP4F10P | - | 19p13.12 |
| CYP4F11 | inflammatory response; xenobiotic metabolic process; small molecule metabolic process; oxidation-reduction process | 19p13.1 |
| CYP4F12 | pressure natriuresis; renal water homeostasis; very long-chain fatty acid metabolic process; xenobiotic metabolic process; drug metabolic process; long-chain fatty acid metabolic process; arachidonic acid metabolic process; epoxygenase P450 pathway; negative regulation of blood coagulation; leukotriene B4 catabolic process; vitamin E metabolic process; vitamin K biosynthetic process; small molecule metabolic process; sodium ion homeostasis; oxidation-reduction process | 19p13.1 |
| CYP4F2 | very long-chain fatty acid metabolic process; drug metabolic process; arachidonic acid metabolic process; epoxygenase P450 pathway; negative regulation of blood coagulation; icosanoid metabolic process; pressure natriuresis; renal water homeostasis; long-chain fatty acid metabolic process; vitamin K biosynthetic process; oxidation-reduction process; sodium ion homeostasis; small molecule metabolic process; leukotriene B4 catabolic process; xenobiotic metabolic process; vitamin E metabolic process | 19p13.12 |
| CYP4F22 | - | 19p13.12 |
| CYP4F23P | - | - |
| CYP4F24P | - | 19p13.12 |
| CYP4F3 | small molecule metabolic process; xenobiotic metabolic process; leukotriene metabolic process; icosanoid metabolic process | 19p13.2 |
| CYP4F30P | - | 2q21.1 |
| CYP4F34P | - | - |
| CYP4F43P | - | 2q21.1 |
| CYP4F59P | - | 9p12 |
| CYP4F8 | small molecule metabolic process; xenobiotic metabolic process; prostaglandin metabolic process; icosanoid metabolic process | 19p13.1 |
| CYP4F9P | - | 19p13.12 |
| CYP4V2 | response to stimulus; fatty acid omega-oxidation; visual perception | 4q35.2 |
| CYP4X1 | - | 1p33|1 |
| CYP4Z1 | - | 1p33 |
| CYP4Z2P | oxidation-reduction process | 1p33 |
| CYP51A1 | small molecule metabolic process; xenobiotic metabolic process; cholesterol biosynthetic process | 7q21.2 |
| CYP51P1 | - | 3p12.2 |
| CYP51P2 | - | 13q12.3 |
| CYP51P3 | - | - |
| CYP7B1 | xenobiotic metabolic process; bile acid biosynthetic process; memory; circadian rhythm; cholesterol metabolic process; prostate gland epithelium morphogenesis; response to cAMP; positive regulation of epithelial cell proliferation; small molecule metabolic process; response to drug; negative regulation of intracellular estrogen receptor signaling pathway; bile acid metabolic process; cell death | 8q21.3 |
| CYP8B1 | bile acid metabolic process; small molecule metabolic process; xenobiotic metabolic process; bile acid biosynthetic process | 3p22.1 |
| CYR61 | positive regulation of BMP signaling pathway; positive regulation of cell migration; positive regulation of osteoblast proliferation; positive regulation of apoptotic process; negative regulation of apoptotic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; wound healing, spreading of cells; positive regulation of osteoblast differentiation; positive regulation of protein kinase activity; positive regulation of transcription from RNA polymerase II promoter; atrial septum morphogenesis; chondroblast differentiation; positive regulation of cartilage development; chorio-allantoic fusion; labyrinthine layer blood vessel development; extracellular matrix organization; positive regulation of cell-substrate adhesion; positive regulation of phospholipase activity; anatomical structure morphogenesis; cell proliferation; chemotaxis; ventricular septum development; apoptosis involved in heart morphogenesis; atrioventricular valve morphogenesis; intussusceptive angiogene | 1p22.3 |
| CYS1 | - | 2p25.1 |
| CYSLTR1 | respiratory gaseous exchange; calcium ion transport; chemotaxis; defense response; positive regulation of vasoconstriction; inflammatory response; elevation of cytosolic calcium ion concentration | Xq13.2-q21.1 |
| CYSLTR2 | immune response | 13q14.2 |
| CYSRT1 | - | 9q34.3 |
| CYSTM1 | - | 5q31.3 |
| CYTH1 | vesicle-mediated transport; regulation of cell adhesion; regulation of ARF protein signal transduction | 17q25 |
| CYTH2 | actin cytoskeleton organization; endocytosis; regulation of ARF protein signal transduction; regulation of cell adhesion | 19q13.33 |
| CYTH3 | inositol phosphate-mediated signaling; regulation of ARF protein signal transduction; regulation of cell adhesion; vesicle-mediated transport | 7p22.1 |
| CYTH4 | regulation of cell adhesion; regulation of ARF protein signal transduction | 22q12.3-q13.1 |
| CYTIP | regulation of cell adhesion | 2q11.2 |
| CYTL1 | chondrocyte differentiation; signal transduction; positive regulation of transcription from RNA polymerase II promoter; positive regulation of sequence-specific DNA binding transcription factor activity; chondroitin sulfate proteoglycan biosynthetic process | 4p16-p15 |
| CYYR1 | - | 21q21.2 |
| D21S2090E | - | - |
| D2HGDH | response to manganese ion; response to zinc ion; response to cobalt ion; response to magnesium ion; cellular protein metabolic process; small molecule metabolic process; response to calcium ion; 2-oxoglutarate metabolic process | 2q37.3 |
| DAAM1 | actin cytoskeleton organization; cellular component organization | 14q23.1 |
| DAAM2 | actin cytoskeleton organization; cellular component organization | 6p21.2 |
| DAB1 | multicellular organismal development; nervous system development; cell differentiation | 1p32-p31 |
| DAB1-AS1 | - | - |
| DAB2 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; negative regulation of canonical Wnt receptor signaling pathway; cell morphogenesis involved in differentiation; in utero embryonic development; positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway; excretion; pinocytosis; receptor-mediated endocytosis; positive regulation of protein phosphorylation; cell proliferation; negative regulation of cell growth; negative regulation of protein binding | 5p13 |
| DAB2IP | negative regulation of protein serine/threonine kinase activity; cellular response to epidermal growth factor stimulus; positive regulation of protein serine/threonine kinase activity; negative regulation of canonical Wnt receptor signaling pathway; negative regulation of NF-kappaB transcription factor activity; negative regulation of epithelial to mesenchymal transition; negative regulation of epithelial cell migration; positive regulation of signal transduction; activation of JUN kinase activity; negative regulation of transcription from RNA polymerase II promoter; negative regulation of Ras protein signal transduction; positive regulation of Ras GTPase activity; negative regulation of Ras GTPase activity; negative regulation of catenin import into nucleus; negative regulation of epidermal growth factor receptor signaling pathway; positive regulation of apoptotic process; negative regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of MAP kinase activity; positive regulation of JUN kinase a | 9q33.1-q33.3 |
| DACH1 | negative regulation of transcription from RNA polymerase II promoter; negative regulation of cell migration; negative regulation of transcription by competitive promoter binding; multicellular organismal development; regulation of transcription, DNA-dependent | 13q22 |
| DACH2 | regulation of transcription, DNA-dependent; multicellular organismal development; development of primary female sexual characteristics | Xq21.3 |
| DACT1 | Wnt receptor signaling pathway; multicellular organismal development | 14q23.1 |
| DACT2 | - | 6q27 |
| DACT3 | - | 19q13.32 |
| DAD1 | response to drug; apoptotic process; protein glycosylation; blastocyst development; anti-apoptosis; response to nutrient; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process | 14q11.2 |
| DAG1 | membrane protein ectodomain proteolysis; NLS-bearing substrate import into nucleus; cytoskeletal anchoring at plasma membrane; virus-host interaction; negative regulation of protein kinase B signaling cascade; negative regulation of cell migration; microtubule anchoring; negative regulation of MAPK cascade; interspecies interaction between organisms | 3p21 |
| DAGLA | blood coagulation; cell death; lipid catabolic process; platelet activation | 11q12.2 |
| DAGLB | blood coagulation; lipid catabolic process; platelet activation | 7p22.1 |
| DALRD3 | arginyl-tRNA aminoacylation | 3p21.31 |
| DANCR | - | 4q12 |
| DAND5 | negative regulation of transforming growth factor beta receptor signaling pathway; negative regulation of BMP signaling pathway; detection of nodal flow; determination of left/right asymmetry in lateral mesoderm; ventricular septum development; atrial septum development; determination of heart left/right asymmetry; negative regulation of activin receptor signaling pathway | 19p13.2 |
| DAO | small molecule metabolic process; D-alanine catabolic process; glyoxylate metabolic process; D-serine catabolic process; cellular nitrogen compound metabolic process; proline catabolic process | 12q24 |
| DAOA | - | 13q33.2|13q34 |
| DAP | induction of apoptosis by extracellular signals; negative regulation of autophagy; negative regulation of NF-kappaB transcription factor activity; cellular response to amino acid starvation; negative regulation of transcription, DNA-dependent; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process | 5p15.2 |
| DAP3 | apoptotic mitochondrial changes; induction of apoptosis by extracellular signals | 1q22 |
| DAP3P2 | - | 2q31.2 |
| DAPK1 | intracellular protein kinase cascade; regulation of N-methyl-D-aspartate selective glutamate receptor activity; regulation of apoptotic process; regulation of autophagy; induction of apoptosis by extracellular signals; signal transduction; induction of apoptosis; anti-apoptosis; apoptotic process; protein phosphorylation; protein autophosphorylation | 9q21.33 |
| DAPK1-IT1 | - | 9q21.33 |
| DAPK2 | protein phosphorylation; induction of apoptosis; intracellular protein kinase cascade; regulation of autophagy; regulation of apoptotic process; anoikis; protein autophosphorylation | 15q22.31 |
| DAPK3 | chromatin modification; neuron differentiation; regulation of apoptotic process; protein autophosphorylation; positive regulation of canonical Wnt receptor signaling pathway; regulation of cell motility; regulation of actin cytoskeleton reorganization; intracellular protein kinase cascade; regulation of mitosis; regulation of smooth muscle contraction; induction of apoptosis; protein phosphorylation; cytokinesis; regulation of transcription, DNA-dependent; regulation of autophagy | 19p13.3 |
| DAPL1 | apoptotic process; cell differentiation | 2q24.1 |
| DAPP1 | protein dephosphorylation; signal transduction; peptidyl-tyrosine dephosphorylation | 4q25-q27 |
| DARS | protein complex assembly; gene expression; aspartyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; translation | 2q21.3 |
| DARS2 | mitochondrial asparaginyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; gene expression; tRNA aminoacylation | 1q25.1 |
| DAW1 | - | 2q36.3 |
| DAXX | apoptotic process; negative regulation of transcription, DNA-dependent; interspecies interaction between organisms; regulation of protein ubiquitination; androgen receptor signaling pathway; induction of apoptosis via death domain receptors; activation of JUN kinase activity; induction of apoptosis; regulation of transcription, DNA-dependent; cytokinesis after mitosis | 6p21.3 |
| DAZ2 | spermatogenesis; multicellular organismal development; single fertilization; cell differentiation | Yq11.223 |
| DAZ4 | spermatogenesis; cell differentiation; multicellular organismal development | Yq11.223 |
| DAZAP1 | spermatogenesis; cell differentiation; multicellular organismal development | 19p13.3 |
| DAZAP2 | - | 12q12 |
| DAZAP2P1 | - | 2q33.1 |
| DAZL | positive regulation of translational initiation; regulation of translation; multicellular organismal development; cell differentiation; germ cell development; spermatogenesis | 3p24.3 |
| DBF4 | G1/S transition of mitotic cell cycle; M/G1 transition of mitotic cell cycle; cell cycle checkpoint; mitotic cell cycle; positive regulation of catalytic activity; DNA replication | 7q21.3 |
| DBF4B | cell cycle | 17q21.31|17q21 |
| DBF4P1 | - | 10q21.3 |
| DBH | fear response; maternal behavior; regulation of apoptotic process; response to peptide hormone stimulus; small molecule metabolic process; positive regulation of vasoconstriction; octopamine metabolic process; response to copper ion; behavioral response to ethanol; response to pain; leukocyte migration; sensory perception of taste; bone development; cellular response to manganese ion; cellular response to nicotine; homoiothermy; catecholamine biosynthetic process; synaptic transmission; blood vessel remodeling; response to amphetamine; leukocyte mediated immunity; glucose homeostasis; memory; locomotory behavior; visual learning; response to iron ion; response to ozone; response to organic cyclic compound; response to estradiol stimulus; cellular nitrogen compound metabolic process; social behavior; norepinephrine biosynthetic process; dopamine catabolic process; cytokine production; regulation of cell proliferation; multicellular organismal aging | 9q34 |
| DBH-AS1 | - | 9q34.2 |
| DBI | transport | 2q12-q21 |
| DBIL5P | - | 17p13.3 |
| DBIP2 | - | 5q14.1 |
| DBIP3 | - | 16p13.3 |
| DBN1 | regulation of neuronal synaptic plasticity; regulation of dendrite development; cell differentiation; nervous system development; multicellular organismal development; actin filament organization | 5q35.3 |
| DBNDD1 | - | 16q24.3 |
| DBNDD2 | negative regulation of protein kinase activity | 20q13.12 |
| DBNL | cellular component disassembly involved in apoptosis; activation of JUN kinase activity; Rac protein signal transduction; apoptotic process; endocytosis | 7p13 |
| DBP | regulation of transcription from RNA polymerase II promoter; regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter; rhythmic process | 19q13.3 |
| DBR1 | nuclear mRNA splicing, via spliceosome; RNA splicing, via transesterification reactions | 3q22.3 |
| DBT | fatty-acyl-CoA biosynthetic process; metabolic process; branched chain family amino acid catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process | 1p31 |
| DBX2 | - | 12q12 |
| DCAF10 | protein ubiquitination | 9p13.2 |
| DCAF11 | protein ubiquitination | 14q11.2 |
| DCAF12 | protein ubiquitination | 9p13.3 |
| DCAF12L1 | - | Xq25 |
| DCAF12L2 | - | Xq25 |
| DCAF13 | protein ubiquitination; rRNA processing | 8q22.3 |
| DCAF13P3 | - | 15q21.2 |
| DCAF15 | - | 19p13.12 |
| DCAF16 | protein ubiquitination | 4p15.31 |
| DCAF17 | protein ubiquitination | 2q31.1 |
| DCAF4 | protein ubiquitination | 14q24.3 |
| DCAF4L1 | - | 4p13 |
| DCAF4L2 | - | 8q21.3 |
| DCAF5 | protein ubiquitination | 14q23-q24.1 |
| DCAF6 | positive regulation of transcription from RNA polymerase II promoter; protein ubiquitination | 1q24.2 |
| DCAF7 | protein ubiquitination; multicellular organismal development | 17q23.3 |
| DCAF8 | protein ubiquitination | 1q22-q23 |
| DCAF8L1 | - | Xp21.3 |
| DCAKD | coenzyme A biosynthetic process | 17q21.31 |
| DCBLD1 | cell adhesion | 6q22.1 |
| DCBLD2 | wound healing; intracellular receptor mediated signaling pathway; negative regulation of cell growth; cell adhesion | 3q12.1|3 |
| DCC | apoptotic process; negative regulation of dendrite development; positive regulation of ERK1 and ERK2 cascade; negative regulation of collateral sprouting; negative regulation of neuron projection development; positive regulation of neuron projection development; axon guidance; response to amphetamine; axonogenesis; multicellular organismal development; induction of apoptosis; regulation of apoptotic process | 18q21.3 |
| DCDC1 | intracellular signal transduction | 11p13 |
| DCDC2 | intracellular signal transduction; nervous system development; cellular defense response; neuron migration | 6p22.1 |
| DCDC2B | intracellular signal transduction | 1p35.1 |
| DCDC2C | intracellular signal transduction | 2p25.3 |
| DCDC5 | intracellular signal transduction | 11p14.1 |
| DCHS1 | homophilic cell adhesion; calcium-dependent cell-cell adhesion; cell adhesion | 11p15.4 |
| DCHS2 | cell adhesion; homophilic cell adhesion | 4q31.3 |
| DCK | nucleotide biosynthetic process; nucleobase-containing small molecule metabolic process; deoxycytidine metabolic process; small molecule metabolic process; purine-containing compound salvage; pyrimidine nucleoside salvage; drug metabolic process; pyrimidine nucleotide metabolic process; pyrimidine base metabolic process; purine base metabolic process | 4q13.3-q21.1 |
| DCLK1 | response to virus; intracellular signal transduction; cell differentiation; endosome transport; central nervous system development; nervous system development; multicellular organismal development; protein phosphorylation | 13q13 |
| DCLK2 | intracellular signal transduction | 4q31.3 |
| DCLK3 | - | 3p22.2 |
| DCLRE1A | DNA repair; cell cycle; mitosis; cell division | 10q25.1 |
| DCLRE1B | telomeric 3' overhang formation; protection from non-homologous end joining at telomere; telomeric loop formation; DNA repair; cell cycle checkpoint; telomere maintenance | 1p13.2 |
| DCLRE1C | telomere maintenance; B cell differentiation; response to ionizing radiation; DNA recombination; chromosome organization; double-strand break repair | 10p13 |
| DCN | wound healing; response to lipopolysaccharide; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; organ morphogenesis; aging; skeletal muscle tissue development; placenta development; kidney development; response to mechanical stimulus | 12q21.33 |
| DCP1A | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; RNA metabolic process; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3p21.1 |
| DCP1B | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; RNA metabolic process; mRNA metabolic process | 12p13.33 |
| DCP2 | mRNA metabolic process; histone mRNA catabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; RNA metabolic process; gene expression; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 5q22.2 |
| DCPS | deadenylation-dependent decapping of nuclear-transcribed mRNA; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; RNA metabolic process; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 11q24.2 |
| DCST1 | - | 1q22 |
| DCST2 | - | 1q22 |
| DCSTAMP | osteoclast differentiation | 8q23 |
| DCT | positive regulation of neuroblast proliferation; melanin biosynthetic process from tyrosine; epidermis development; ventricular zone neuroblast division; developmental pigmentation; cell development | 13q32 |
| DCTD | nucleobase-containing small molecule metabolic process; pyrimidine nucleoside biosynthetic process; small molecule metabolic process; nucleotide biosynthetic process; pyrimidine nucleotide metabolic process; pyrimidine base metabolic process | 4q35.1 |
| DCTN1 | mitotic cell cycle; endoplasmic reticulum unfolded protein response; cell death; nervous system development; mitosis; activation of signaling protein activity involved in unfolded protein response; transport; G2/M transition of mitotic cell cycle | 2p13 |
| DCTN2 | cell proliferation; mitosis; mitotic spindle organization; microtubule-based process; mitotic cell cycle; G2/M transition of mitotic cell cycle | 12q13.3 |
| DCTN3 | microtubule-based process; G2/M transition of mitotic cell cycle; mitotic cell cycle; cytokinesis; mitosis | 9p13 |
| DCTN4 | - | 5q31-q32 |
| DCTN5 | - | 16p12.2 |
| DCTN6 | - | 8p12-p11 |
| DCTPP1 | protein homotetramerization; nucleoside triphosphate catabolic process | 16p11.2 |
| DCUN1D1 | - | 3q26.3 |
| DCUN1D2 | - | 13q34 |
| DCUN1D3 | negative regulation of S phase of mitotic cell cycle; positive regulation of apoptotic process; negative regulation of cell growth; response to gamma radiation; response to UV-C | 16p12.3 |
| DCUN1D4 | - | 4q12 |
| DCUN1D5 | - | 11q22.3 |
| DCX | axon guidance; response to electrical stimulus; dendrite morphogenesis; axon extension; intracellular signal transduction; cell differentiation; central nervous system projection neuron axonogenesis; brain development; neuron migration; multicellular organismal development; nervous system development; central nervous system development | Xq22.3-q23 |
| DCXR | D-xylose metabolic process; glucose metabolic process; NADP metabolic process; carbohydrate metabolic process; protein homotetramerization; xylulose metabolic process; oxidation-reduction process | 17q25.3 |
| DDA1 | - | 19p13.11 |
| DDAH1 | nitric oxide mediated signal transduction; positive regulation of nitric oxide biosynthetic process; positive regulation of angiogenesis; arginine catabolic process; arginine metabolic process; regulation of systemic arterial blood pressure; citrulline metabolic process | 1p22 |
| DDAH2 | positive regulation of nitric oxide biosynthetic process; nitric oxide mediated signal transduction; anti-apoptosis; nitric oxide biosynthetic process; arginine catabolic process; citrulline metabolic process | 6p21.3 |
| DDB1 | cell cycle checkpoint; nucleotide-excision repair, DNA damage removal; DNA repair; nucleotide-excision repair; Wnt receptor signaling pathway; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; proteasomal ubiquitin-dependent protein catabolic process; interspecies interaction between organisms | 11q12-q13 |
| DDB2 | protein polyubiquitination; nucleotide-excision repair, DNA damage removal; DNA repair; nucleotide-excision repair; pyrimidine dimer repair; response to UV; protein autoubiquitination | 11p12-p11 |
| DDC | multicellular organismal aging; isoquinoline alkaloid metabolic process; cellular amino acid metabolic process; circadian rhythm; response to toxin; cellular response to growth factor stimulus; synaptic vesicle amine transport; cellular nitrogen compound metabolic process; cellular response to drug; dopamine biosynthetic process; catecholamine biosynthetic process; serotonin biosynthetic process; small molecule metabolic process; indolalkylamine biosynthetic process; response to pyrethroid; phytoalexin metabolic process; cellular response to alkaloid | 7p12.2 |
| DDHD1 | lipid catabolic process | 14q21 |
| DDHD2 | lipid catabolic process | 8p11.23 |
| DDI2 | proteolysis | 1p36.21 |
| DDIAS | cell cycle; apoptotic process; cell cycle arrest | 11q14.1 |
| DDIT3 | negative regulation of canonical Wnt receptor signaling pathway; response to DNA damage stimulus; activation of signaling protein activity involved in unfolded protein response; cell cycle; cell cycle arrest; endoplasmic reticulum unfolded protein response; response to endoplasmic reticulum stress; mRNA transcription from RNA polymerase II promoter; negative regulation of sequence-specific DNA binding transcription factor activity; regulation of DNA-dependent transcription in response to stress; regulation of transcription involved in anterior/posterior axis specification; cell redox homeostasis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of determination of dorsal identity; regulation of transcription, DNA-dependent | 12q13.1-q13.2 |
| DDIT4 | response to hypoxia; apoptotic process; negative regulation of TOR signaling cascade; protein complex disassembly; negative regulation of glycolysis; reactive oxygen species metabolic process | 10q22.1 |
| DDIT4L | negative regulation of signal transduction | 4q24 |
| DDN | - | 12q13.12 |
| DDO | aspartate metabolic process; aspartate catabolic process; insemination; grooming behavior; hormone metabolic process | 6q21 |
| DDOST | response to cytokine stimulus; innate immune response; cellular protein metabolic process; post-translational protein modification; translation; protein N-linked glycosylation; T cell activation; protein N-linked glycosylation via asparagine; gene expression; SRP-dependent cotranslational protein targeting to membrane; protein glycosylation | 1p36.1 |
| DDR1 | embryo implantation; peptidyl-tyrosine autophosphorylation; negative regulation of cell proliferation; regulation of extracellular matrix disassembly; smooth muscle cell migration; organ regeneration; collagen-activated tyrosine kinase receptor signaling pathway; ear development; skin development; wound healing, spreading of cells; protein autophosphorylation; branching involved in mammary gland duct morphogenesis; mammary gland alveolus development; smooth muscle cell-matrix adhesion; regulation of cell-matrix adhesion; cell adhesion; regulation of cell growth | 6p21.3 |
| DDR2 | chondrocyte proliferation; positive regulation of osteoblast differentiation; positive regulation of protein kinase activity; protein autophosphorylation; positive regulation of fibroblast proliferation; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of extracellular matrix disassembly; collagen-activated tyrosine kinase receptor signaling pathway; ossification; endochondral bone growth; cell adhesion; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; regulation of bone mineralization; peptidyl-tyrosine phosphorylation; positive regulation of fibroblast migration; regulation of extracellular matrix disassembly | 1q23.3 |
| DDRGK1 | - | 20p13 |
| DDT | melanin biosynthetic process | 22q11.23 |
| DDTL | - | 22q11.23 |
| DDX1 | spliceosome assembly; double-strand break repair; regulation of transcription, DNA-dependent; mRNA processing; regulation of translational initiation; multicellular organismal development; DNA duplex unwinding; nucleic acid phosphodiester bond hydrolysis | 2p24 |
| DDX10 | - | 11q22-q23 |
| DDX10P2 | - | 9q21.32 |
| DDX11 | endoplasmic reticulum unfolded protein response; mitotic sister chromatid segregation; S phase of mitotic cell cycle; G2/M transition of mitotic cell cycle; nucleobase-containing compound metabolic process; activation of signaling protein activity involved in unfolded protein response; cell cycle; sister chromatid cohesion; positive regulation of cell proliferation; DNA duplex unwinding; interspecies interaction between organisms | 12p11 |
| DDX11-AS1 | - | - |
| DDX11L2 | - | 2q13 |
| DDX12P | nucleobase-containing compound metabolic process; cell cycle | 12p13.31 |
| DDX17 | regulation of skeletal muscle cell differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of intracellular estrogen receptor signaling pathway; RNA processing | 22q13.1 |
| DDX18 | - | 2q14.1 |
| DDX18P1 | - | 14q24.1 |
| DDX18P2 | - | 15q22.2 |
| DDX18P3 | - | 6p22.3 |
| DDX18P5 | - | 11q24.3 |
| DDX18P6 | - | 10q23.31 |
| DDX19A | protein transport; mRNA transport | 16q22.1 |
| DDX19B | protein transport; mRNA export from nucleus | 16q22.1 |
| DDX20 | spliceosomal snRNP assembly; negative regulation of transcription from RNA polymerase II promoter; assembly of spliceosomal tri-snRNP; RNA processing; mRNA processing; induction of apoptosis; RNA splicing; RNA metabolic process; ncRNA metabolic process; positive regulation of apoptotic process; gene expression | 1p21.1-p13.2 |
| DDX21 | - | 10q21 |
| DDX23 | cis assembly of pre-catalytic spliceosome; RNA splicing, via transesterification reactions; nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression | 12q13.12 |
| DDX24 | RNA metabolic process | 14q32 |
| DDX25 | mRNA export from nucleus; regulation of translation; transport; multicellular organismal development; spermatogenesis; spermatid development; cell differentiation | 11q24 |
| DDX26B | - | Xq26.3 |
| DDX27 | - | 20q13.13 |
| DDX28 | - | 16q22.1 |
| DDX31 | - | 9q34.13 |
| DDX39A | mRNA export from nucleus; nuclear mRNA splicing, via spliceosome; RNA splicing | 19p13.12 |
| DDX39B | intronless viral mRNA export from host nucleus; spliceosome assembly; nuclear mRNA splicing, via spliceosome; mRNA export from nucleus; transport; RNA splicing; RNA secondary structure unwinding | 6p21.3 |
| DDX39BP2 | - | 6p21.33 |
| DDX3X | interspecies interaction between organisms | Xp11.3-p11.23 |
| DDX3Y | - | Yq11 |
| DDX3YP1 | - | Xq13.2 |
| DDX3YP3 | - | 4q24 |
| DDX4 | multicellular organismal development; sperm motility | 5p15.2-p13.1 |
| DDX41 | nuclear mRNA splicing, via spliceosome; RNA processing; apoptotic process; multicellular organismal development; RNA splicing | 5q35.3 |
| DDX42 | regulation of anti-apoptosis; protein localization | 17q23.3 |
| DDX43 | - | 6q12-q13 |
| DDX46 | mRNA processing; RNA splicing | 5q31.1 |
| DDX47 | RNA splicing; apoptotic process; mRNA processing; rRNA processing | 12p13.1 |
| DDX49 | - | 19p12 |
| DDX5 | negative regulation of transcription from RNA polymerase II promoter; regulation of alternative nuclear mRNA splicing, via spliceosome; regulation of skeletal muscle cell differentiation; signal transduction by p53 class mediator resulting in induction of apoptosis; regulation of androgen receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; regulation of osteoblast differentiation; positive regulation of DNA damage response, signal transduction by p53 class mediator; positive regulation of intracellular estrogen receptor signaling pathway; cell growth; RNA splicing; nuclear mRNA splicing, via spliceosome | 17q21 |
| DDX50 | - | 10q22.1 |
| DDX50P1 | - | 2p22.3 |
| DDX51 | rRNA processing | 12q24.33 |
| DDX52 | - | 17q21.1 |
| DDX53 | - | Xp22.11 |
| DDX54 | regulation of transcription, DNA-dependent; RNA processing; RNA metabolic process; intracellular estrogen receptor signaling pathway | 12q24.13 |
| DDX55 | - | 12q24.31 |
| DDX56 | rRNA processing | 7p13 |
| DDX58 | positive regulation of defense response to virus by host; detection of virus; negative regulation of type I interferon production; positive regulation of interferon-alpha production; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of interferon-beta production; positive regulation of transcription factor import into nucleus; innate immune response; positive regulation of transcription from RNA polymerase II promoter | 9p12 |
| DDX59 | - | 1q32.1 |
| DDX6 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression; RNA metabolic process; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 11q23.3 |
| DDX60 | response to virus | 4q32.3 |
| DDX60L | - | 4q32.3 |
| DDX6P1 | - | 6p22.1 |
| DEAF1 | regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; germ cell development; multicellular organismal development; neural tube closure; embryonic skeletal system development; regulation of mammary gland epithelial cell proliferation; anatomical structure morphogenesis; nervous system development | 11p15.5 |
| DEC1 | negative regulation of cell proliferation | 9q32 |
| DECR1 | fatty acid beta-oxidation; cellular lipid metabolic process; small molecule metabolic process; protein homotetramerization | 8q21.3 |
| DECR2 | unsaturated fatty acid biosynthetic process | 16p13.3 |
| DEDD | regulation of apoptotic process; negative regulation of transcription, DNA-dependent; induction of apoptosis via death domain receptors; spermatogenesis; induction of apoptosis | 1q23.3 |
| DEDD2 | intracellular signal transduction; apoptotic nuclear change; cellular homeostasis; rRNA catabolic process; activation of pro-apoptotic gene products; induction of apoptosis via death domain receptors; RNA processing; regulation of apoptotic process; negative regulation of transcription, DNA-dependent | 19q13.2 |
| DEF6 | - | 6p21.33-p21.1 |
| DEF8 | intracellular signal transduction | 16q24.3 |
| DEFA1 | - | 8p23.1 |
| DEFA10P | - | 8p23.1 |
| DEFA3 | response to virus; killing of cells of other organism; defense response to bacterium; innate immune response; defense response to fungus | 8p23.1 |
| DEFA4 | defense response to fungus; innate immune response; defense response to bacterium; killing of cells of other organism | 8p23 |
| DEFA5 | killing of cells of other organism; defense response to bacterium; innate immune response; defense response to fungus | 8p23.1 |
| DEFA8P | - | 8p23.1 |
| DEFB1 | innate immune response; acute inflammatory response; chemotaxis; immune response; G-protein coupled receptor signaling pathway; response to bacterium; response to testosterone stimulus; defense response to bacterium | 8p23.1 |
| DEFB103A | defense response to bacterium; positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria; innate immune response | 8p23.1 |
| DEFB104B | defense response to bacterium | 8p23.1 |
| DEFB106B | defense response to bacterium | 8p23.1 |
| DEFB112 | defense response to bacterium | 6p12.3 |
| DEFB113 | defense response to bacterium | 6p12.3 |
| DEFB116 | defense response to bacterium | 20q11.21 |
| DEFB119 | defense response to bacterium | 20q11.21 |
| DEFB121 | defense response to bacterium | 20q11.1 |
| DEFB126 | defense response to bacterium | 20p13 |
| DEFB127 | defense response to bacterium; innate immune response | 20p13 |
| DEFB128 | defense response to bacterium | 20p13 |
| DEFB134 | defense response to bacterium | 8p23.1 |
| DEFB136 | defense response to bacterium | 8p23.1 |
| DEFB4B | - | 8p23.1 |
| DEFT1P2 | - | 8p23.1 |
| DEGS1 | small molecule metabolic process; sphingolipid biosynthetic process; sphingolipid metabolic process; unsaturated fatty acid biosynthetic process | 1q42.11 |
| DEGS2 | fatty acid biosynthetic process; ceramide biosynthetic process; small molecule metabolic process; sphingolipid biosynthetic process; sphinganine metabolic process; sphingolipid metabolic process | 14q32.2 |
| DEK | viral genome replication; chromatin modification; signal transduction; transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter | 6p22.3 |
| DENND1A | synaptic vesicle endocytosis | 9q33.3 |
| DENND1B | - | 1q31.3 |
| DENND1C | - | 19p13.3 |
| DENND2A | - | 7q34 |
| DENND2C | - | 1p13.2 |
| DENND2D | - | 1p13.3 |
| DENND3 | - | 8q24.3 |
| DENND4A | regulation of transcription, DNA-dependent | 15q22.31 |
| DENND4B | - | 1q21 |
| DENND4C | - | 9p22.1 |
| DENND5A | - | 11p15.4 |
| DENND5B | - | 12p11.21 |
| DENND6A | - | 3p14.3 |
| DENND6B | - | 22q13.33 |
| DENR | - | 12q24.31 |
| DEPDC1 | intracellular signal transduction; negative regulation of transcription, DNA-dependent | 1p31.2 |
| DEPDC1-AS1 | - | - |
| DEPDC1B | small GTPase mediated signal transduction; regulation of small GTPase mediated signal transduction | 5q12.1 |
| DEPDC4 | intracellular signal transduction | 12q23.1 |
| DEPDC5 | intracellular signal transduction | 22q12.3 |
| DEPDC7 | regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction | 11p13 |
| DEPTOR | negative regulation of TOR signaling cascade; negative regulation of protein kinase activity; regulation of apoptotic process; negative regulation of cell size; intracellular signal transduction | 8q24.12 |
| DERA | deoxyribonucleotide catabolic process; deoxyribonucleoside catabolic process | 12p12.3 |
| DERL1 | ER-associated protein catabolic process; response to unfolded protein; protein transport; intracellular transport of viral proteins in host cell; endoplasmic reticulum unfolded protein response; retrograde protein transport, ER to cytosol; interspecies interaction between organisms; establishment of protein localization | 8q24.13 |
| DERL2 | endoplasmic reticulum unfolded protein response; retrograde protein transport, ER to cytosol; ER-associated protein catabolic process; positive regulation of cell growth; response to unfolded protein; positive regulation of cell proliferation | 17p13.2 |
| DERL3 | ER-associated protein catabolic process; endoplasmic reticulum unfolded protein response | 22q11.23 |
| DES | regulation of heart contraction; muscle filament sliding; cytoskeleton organization; muscle contraction | 2q35 |
| DESI1 | - | 22q13.2 |
| DESI2 | - | 1q44 |
| DET1 | - | 15q25.3 |
| DEXI | - | 16p13.13 |
| DFFA | DNA fragmentation involved in apoptotic nuclear change; apoptotic process; induction of apoptosis; cellular component disassembly involved in apoptosis; intracellular signal transduction; negative regulation of apoptotic process | 1p36.3-p36.2 |
| DFFB | apoptotic process; intracellular signal transduction; apoptotic chromosome condensation; metabolic process; cellular component disassembly involved in apoptosis; induction of apoptosis; DNA fragmentation involved in apoptotic nuclear change | 1p36.3 |
| DFNA5 | sensory perception of sound; inner ear receptor cell differentiation | 7p15 |
| DFNB31 | inner ear receptor stereocilium organization; sensory perception of light stimulus; sensory perception of sound; retina homeostasis | 9q32 |
| DFNB59 | sensory perception of sound | 2q31.2 |
| DGAT1 | glycerolipid metabolic process; diacylglycerol metabolic process; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA metabolic process; very-low-density lipoprotein particle assembly; insulin secretion; lipid storage; triglyceride biosynthetic process; triglyceride metabolic process | 8q24.3 |
| DGAT2 | cholesterol homeostasis; cellular triglyceride homeostasis; cellular lipid metabolic process; small molecule metabolic process; diacylglycerol metabolic process; fat pad development; low-density lipoprotein particle clearance; lipid storage; triglyceride biosynthetic process; lipid biosynthetic process; cellular response to oleic acid; long-chain fatty-acyl-CoA metabolic process; glycerol metabolic process; fatty acid homeostasis; regulation of plasma lipoprotein particle levels | 11q13.5 |
| DGAT2L6 | lipid biosynthetic process | Xq13.1 |
| DGCR10 | - | 22q11 |
| DGCR11 | - | 22q11.21 |
| DGCR12 | - | 22q11.21 |
| DGCR2 | cell adhesion; organ morphogenesis | 22q11.21 |
| DGCR5 | - | 22q11 |
| DGCR6 | cell adhesion; organ morphogenesis | 22q11.21|22q11 |
| DGCR6L | - | 22q11.21 |
| DGCR8 | primary miRNA processing | 22q11.2 |
| DGCR9 | - | 22q11.21 |
| DGKA | activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; intracellular signal transduction; platelet activation; blood coagulation | 12q13.3 |
| DGKB | platelet activation; intracellular signal transduction; blood coagulation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway | 7p21.2 |
| DGKD | protein homooligomerization; diacylglycerol metabolic process; endocytosis; signal transduction; epidermal growth factor receptor signaling pathway; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; multicellular organismal development; blood coagulation; protein transport; cell growth; second-messenger-mediated signaling; platelet activation; response to organic substance | 2q37.1 |
| DGKE | phospholipid biosynthetic process; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; blood coagulation; platelet activation; intracellular signal transduction | 17q22 |
| DGKG | signal transduction; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; blood coagulation; platelet activation; intracellular signal transduction; neuron development | 3q27.2-q27.3 |
| DGKH | activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; platelet activation; intracellular signal transduction; protein oligomerization; blood coagulation | 13q14.11 |
| DGKI | platelet activation; blood coagulation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; regulation of Rap GTPase activity; intracellular signal transduction; positive regulation of Ras protein signal transduction; negative regulation of catalytic activity | 7q32.3-q33 |
| DGKK | response to oxidative stress; diacylglycerol metabolic process; intracellular signal transduction; platelet activation; blood coagulation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway | Xp11.22 |
| DGKQ | protein kinase C signaling cascade; thrombin receptor signaling pathway; intracellular signal transduction; response to ATP; platelet activation; cAMP-mediated signaling; blood coagulation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; G-protein coupled receptor signaling pathway | 4p16.3 |
| DGKZ | blood coagulation; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; lipid phosphorylation; negative regulation of Ras protein signal transduction; negative regulation of mitotic cell cycle; intracellular signal transduction; mitotic cell cycle G1/S transition DNA damage checkpoint; platelet activation; cell migration | 11p11.2 |
| DGKZP1 | - | 13q14.11 |
| DGUOK | guanosine metabolic process; nucleobase-containing compound metabolic process; purine base metabolic process; nucleobase-containing small molecule metabolic process; purine deoxyribonucleoside metabolic process; dGTP metabolic process; small molecule metabolic process; purine-containing compound salvage; negative regulation of neuron projection development; nucleotide biosynthetic process; protein phosphorylation | 2p13 |
| DGUOK-AS1 | - | - |
| DHCR24 | anti-apoptosis; response to oxidative stress; amyloid precursor protein catabolic process; cell cycle arrest; apoptotic process; cholesterol biosynthetic process; Ras protein signal transduction; protein localization; negative regulation of cell proliferation; tissue development; small molecule metabolic process; skin development; neuroprotection; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; cellular membrane organization; male genitalia development; plasminogen activation | 1p32.3 |
| DHCR7 | blood vessel development; cholesterol biosynthetic process; post-embryonic development; cell differentiation; lung development; multicellular organism growth; regulation of cell proliferation; small molecule metabolic process; regulation of cholesterol biosynthetic process | 11q13.4 |
| DHDDS | - | 1p36.11 |
| DHDH | carbohydrate metabolic process; D-xylose catabolic process | 19q13.3 |
| DHFR | - | 5q11.2-q13.2 |
| DHFRL1 | glycine biosynthetic process; one-carbon metabolic process; nucleotide biosynthetic process; thymidine biosynthetic process; tetrahydrofolate metabolic process | 3q11.1 |
| DHFRP1 | nucleotide biosynthetic process; one-carbon metabolic process; regulation of nitric-oxide synthase activity; folic acid metabolic process; tetrahydrofolate metabolic process; nitric oxide metabolic process; small molecule metabolic process; glycine biosynthetic process; mitotic cell cycle; response to methotrexate; regulation of transcription involved in G1/S phase of mitotic cell cycle; water-soluble vitamin metabolic process; vitamin metabolic process; G1/S transition of mitotic cell cycle | 18q11.2 |
| DHODH | regulation of mitochondrial fission; nucleobase-containing small molecule metabolic process; pyrimidine nucleoside biosynthetic process; small molecule metabolic process; positive regulation of apoptotic process; pyrimidine nucleotide biosynthetic process; 'de novo' pyrimidine base biosynthetic process; pyrimidine base metabolic process; UMP biosynthetic process | 16q22 |
| DHPS | protein homotetramerization; deoxyhypusine biosynthetic process from spermidine, using deoxyhypusine synthase; cellular protein metabolic process; post-translational protein modification; peptidyl-lysine modification to hypusine; positive regulation of cell proliferation; translation | 19p13.2 |
| DHRS1 | - | 14q12 |
| DHRS11 | - | 17q12 |
| DHRS12 | - | 13q14.3 |
| DHRS13 | - | 17q11.2 |
| DHRS2 | oxidation-reduction process; response to toxin; negative regulation of cell proliferation; C21-steroid hormone metabolic process; cellular response to oxidative stress; myeloid dendritic cell differentiation; negative regulation of apoptotic process | 14q11.2 |
| DHRS3 | visual perception; retinol metabolic process | 1p36.1 |
| DHRS4-AS1 | - | 14q11.2 |
| DHRS4L1 | - | 14q11.2 |
| DHRS4L2 | - | 14q11.2 |
| DHRS7 | - | 14q23.1 |
| DHRS7B | - | 17p12 |
| DHRS9 | epithelial cell differentiation; progesterone metabolic process; retinol metabolic process; 9-cis-retinoic acid biosynthetic process; androgen metabolic process | 2q31.1 |
| DHRSX | - | Xp22.33; Yp11.2 |
| DHTKD1 | tricarboxylic acid cycle; glycolysis | 10p14 |
| DHX15 | RNA splicing; mRNA processing | 4p15.3 |
| DHX16 | mRNA processing; RNA splicing | 6p21.3 |
| DHX29 | - | 5q11.2 |
| DHX30 | - | 3p21.31 |
| DHX32 | - | 10q26.2 |
| DHX33 | positive regulation of transcription from RNA polymerase I promoter | 17p13.2 |
| DHX34 | - | 19q13.3 |
| DHX35 | RNA splicing; nuclear mRNA splicing, via spliceosome | 20q11.22-q12 |
| DHX36 | - | 3q25.2 |
| DHX37 | - | 12q24.31 |
| DHX38 | nuclear mRNA splicing, via spliceosome; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA export from nucleus; RNA splicing; gene expression; mRNA 3'-end processing | 16q22 |
| DHX40 | - | 17q23.1 |
| DHX57 | - | 2p22.1 |
| DHX58 | innate immune response | 17q21.2 |
| DHX8 | nuclear mRNA splicing, via spliceosome; RNA processing; RNA splicing | 17q21.31 |
| DHX9 | nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; cellular response to heat; CRD-mediated mRNA stabilization | 1q25 |
| DHX9P1 | - | 13q21 |
| DIABLO | apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; induction of apoptosis by oxidative stress; induction of apoptosis by intracellular signals; induction of apoptosis; intrinsic apoptotic signaling pathway; induction of apoptosis via death domain receptors; activation of cysteine-type endopeptidase activity involved in apoptotic process | 12q24.31 |
| DIAPH1 | cellular component organization; cellular response to histamine; cytoskeleton organization; sensory perception of sound; regulation of cell shape; actin cytoskeleton organization; actin filament polymerization; regulation of release of sequestered calcium ion into cytosol; protein localization to microtubule; regulation of microtubule-based process; neuron projection development | 5q31 |
| DIAPH2 | cytokinesis; oogenesis; cell differentiation; actin filament polymerization; actin cytoskeleton organization; cellular component organization; female gamete generation; multicellular organismal development | Xq21.33 |
| DIAPH3 | actin cytoskeleton organization; cellular component organization | 13q21.2 |
| DIAPH3-AS1 | - | - |
| DIAPH3-AS2 | - | - |
| DICER1 | olfactory bulb interneuron differentiation; gene silencing by RNA; post-embryonic development; hair follicle cell proliferation; targeting of mRNA for destruction involved in RNA interference; production of siRNA involved in RNA interference; lung development; cerebral cortex development; RNA processing; nerve development; stem cell maintenance; positive regulation of Schwann cell differentiation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of gene expression; angiogenesis; negative regulation of Schwann cell proliferation; zygote asymmetric cell division; regulation of cell differentiation; hair follicle morphogenesis; positive regulation of myelination; peripheral nervous system myelin formation; embryonic hindlimb morphogenesis; production of miRNAs involved in gene silencing by miRNA; multicellular organism growth; regulation of enamel mineralization; intestinal epithelial cell development; regulation of odontogenesis of dentin-containing tooth; negative regul | 14q32.13 |
| DICER1-AS1 | - | 14q32.13 |
| DIDO1 | transcription, DNA-dependent; apoptotic process | 20q13.33 |
| DIEXF | multicellular organismal development | 1q32.2 |
| DIMT1 | - | 5q12.1 |
| DIO1 | thyroid hormone generation; cellular nitrogen compound metabolic process; hormone biosynthetic process; small molecule metabolic process | 1p33-p32 |
| DIO2 | selenocysteine incorporation; thyroid hormone generation; cellular nitrogen compound metabolic process; thyroid hormone metabolic process; hormone biosynthetic process; small molecule metabolic process | 14q24.2-q24.3 |
| DIO3 | hormone biosynthetic process; small molecule metabolic process; cellular nitrogen compound metabolic process; thyroid hormone generation | 14q32 |
| DIO3OS | - | 14q32.31 |
| DIP2A | multicellular organismal development | 21q22.3 |
| DIP2A-IT1 | - | 21q22.3 |
| DIP2B | - | 12q13.12 |
| DIP2C | - | 10p15.3 |
| DIRAS1 | small GTPase mediated signal transduction; signal transduction | 19p13.3 |
| DIRAS2 | signal transduction; small GTPase mediated signal transduction | 9q22.2 |
| DIRAS3 | small GTPase mediated signal transduction; signal transduction; regulation of gene expression by genetic imprinting; regulation of cyclin-dependent protein kinase activity; GTP catabolic process | 1p31 |
| DIRC1 | - | 2q33 |
| DIRC2 | transport | 3q21.1 |
| DIRC3 | - | 2q35 |
| DIS3 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; CUT catabolic process; rRNA catabolic process; rRNA processing; gene expression; mRNA metabolic process; RNA metabolic process | 13q22.1 |
| DIS3L | rRNA catabolic process | 15q22.31 |
| DIS3L2 | - | 2q37.1 |
| DISC1 | nervous system development; multicellular organismal development; microtubule cytoskeleton organization; neuron migration; positive regulation of neuroblast proliferation; positive regulation of Wnt receptor signaling pathway | 1q42.1 |
| DISC1-IT1 | - | 1q42.2 |
| DISC1FP1 | - | 11q14.3 |
| DISP1 | diaphragm development; determination of left/right symmetry; protein homotrimerization; regulation of protein secretion; smoothened signaling pathway; embryonic pattern specification; dorsal/ventral pattern formation; peptide transport; patched ligand maturation | 1q41 |
| DISP2 | smoothened signaling pathway | 15q15.1 |
| DIXDC1 | camera-type eye development; cerebellar cortex development; cerebral cortex radially oriented cell migration; multicellular organismal development; cell cycle; forebrain ventricular zone progenitor cell division; forebrain development; positive regulation of canonical Wnt receptor signaling pathway; regulation of actin cytoskeleton organization; negative regulation of neuron differentiation; regulation of JNK cascade; positive regulation of axonogenesis; regulation of microtubule cytoskeleton organization; Wnt receptor signaling pathway, planar cell polarity pathway | 11q23.1 |
| DKC1 | telomere maintenance; pseudouridine synthesis; rRNA processing; RNA processing; telomere maintenance via telomerase; cell proliferation | Xq28 |
| DKFZP434A062 | - | 9q34.3 |
| DKFZP434F142 | - | 7q11.21 |
| DKFZP434H168 | - | 16q12.2 |
| DKFZp434J0226 | - | 19q13.32 |
| DKFZP434L187 | - | 15q13.2 |
| DKFZp434L192 | - | 7p11.2 |
| DKFZp451B082 | - | 6q26 |
| DKFZp547J222 | - | 4p15.33 |
| DKFZp564H213 | - | 17q12 |
| DKFZp566F0947 | - | 19q12 |
| DKFZP586I1420 | - | 7p14.3 |
| DKFZp667F0711 | - | 10p15.1 |
| DKFZp686L13185 | - | 6q27 |
| DKFZP779L1853 | - | 12q13.11 |
| DKK1 | mesoderm formation; negative regulation of skeletal muscle tissue development; negative regulation of BMP signaling pathway; Wnt receptor signaling pathway involved in somitogenesis; negative regulation of canonical Wnt receptor signaling pathway; positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway; face morphogenesis; negative regulation of peptidyl-serine phosphorylation; endoderm formation; forebrain development; cell morphogenesis involved in differentiation; negative regulation of transcription from RNA polymerase II promoter; hair follicle development; response to retinoic acid; regulation of receptor internalization; negative regulation of protein complex assembly; signal transduction; multicellular organismal development; embryonic limb morphogenesis | 10q11.2 |
| DKK2 | positive regulation of canonical Wnt receptor signaling pathway; multicellular organismal development; negative regulation of canonical Wnt receptor signaling pathway | 4q25 |
| DKK3 | negative regulation of canonical Wnt receptor signaling pathway; negative regulation of transcription, DNA-dependent; negative regulation of cortisol biosynthetic process; multicellular organismal development; negative regulation of aldosterone biosynthetic process; adrenal gland development; anatomical structure morphogenesis | 11p15.2 |
| DKK4 | multicellular organismal development; negative regulation of Wnt receptor signaling pathway | 8p11.2-p11.1 |
| DKKL1 | positive regulation of fat cell differentiation; anatomical structure morphogenesis; signal transduction | 19q13.33 |
| DKKL1P1 | - | 20q11.21 |
| DLAT | regulation of acetyl-CoA biosynthetic process from pyruvate; acetyl-CoA biosynthetic process; pyruvate metabolic process; small molecule metabolic process; glycolysis; sleep | 11q23.1 |
| DLC1 | positive regulation of Rho GTPase activity; signal transduction; activation of cysteine-type endopeptidase activity involved in apoptotic process; forebrain development; negative regulation of cell migration; activation of phospholipase C activity; small GTPase mediated signal transduction; negative regulation of cell proliferation; regulation of cell shape; hindbrain morphogenesis; actin cytoskeleton organization; induction of apoptosis; cellular response to insulin stimulus; regulation of actin cytoskeleton organization; heart morphogenesis; neural tube closure; negative regulation of Rho protein signal transduction; positive regulation of protein dephosphorylation; focal adhesion assembly; regulation of small GTPase mediated signal transduction; negative regulation of stress fiber assembly | 8p22 |
| DLD | cellular nitrogen compound metabolic process; pyruvate metabolic process; tricarboxylic acid cycle; 2-oxoglutarate metabolic process; mitochondrial electron transport, NADH to ubiquinone; proteolysis; lysine catabolic process; gastrulation; aging; branched chain family amino acid catabolic process; lipoate metabolic process; regulation of acetyl-CoA biosynthetic process from pyruvate; regulation of membrane potential; small molecule metabolic process; cell redox homeostasis; sperm capacitation; dihydrolipoamide metabolic process | 7q31-q32 |
| DLEC1 | negative regulation of cell proliferation | 3p21.3 |
| DLEU1 | - | 13q14.3 |
| DLEU2 | - | 13q14.3 |
| DLEU2L | - | 1p31-p22 |
| DLEU7 | - | 13q14.3 |
| DLEU7-AS1 | - | - |
| DLG1 | mitotic cell cycle G1/S transition checkpoint; interspecies interaction between organisms; negative regulation of mitotic cell cycle; tight junction assembly; protein localization in plasma membrane; cell-cell adhesion; axon guidance; synaptic transmission; establishment or maintenance of cell polarity; endothelial cell proliferation; actin filament organization; cortical actin cytoskeleton organization | 3q29 |
| DLG2 | synaptic transmission; negative regulation of phosphatase activity; sensory perception of pain; receptor clustering; neuronal ion channel clustering | 11q14.1 |
| DLG3 | negative regulation of cell proliferation; negative regulation of phosphatase activity; axon guidance; synaptic transmission | Xq13.1 |
| DLG3-AS1 | - | - |
| DLG4 | protein complex assembly; signal transduction; synaptic transmission; nervous system development; axon guidance; dendritic spine morphogenesis; establishment of protein localization; protein localization to synapse; learning; receptor localization to synapse; alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate receptor clustering | 17p13.1 |
| DLG5 | regulation of apoptotic process; intracellular signal transduction; cell-cell adhesion; negative regulation of cell proliferation; signal transduction | 10q23 |
| DLG5-AS1 | - | 10q22.3 |
| DLGAP1 | synaptic transmission | 18p11.31 |
| DLGAP1-AS1 | - | 18p11.31 |
| DLGAP1-AS2 | - | 18p11.31 |
| DLGAP1-AS3 | - | 18p11.31 |
| DLGAP1-AS5 | - | 18p11.31 |
| DLGAP3 | cell-cell signaling | 1p35.3-p34.1 |
| DLGAP4 | cell-cell signaling | 20q11.23 |
| DLGAP5 | cell cycle; M phase of mitotic cell cycle; cell-cell signaling; cell proliferation; positive regulation of mitotic metaphase/anaphase transition; mitotic chromosome movement towards spindle pole | 14q22.3 |
| DLK1 | multicellular organismal development; embryo development; post-embryonic development; embryonic skeletal system development | 14q32 |
| DLK2 | regulation of fat cell differentiation | 6p21.1 |
| DLL1 | cell fate determination; somite specification; Notch signaling pathway; Notch receptor processing; cell-cell signaling; multicellular organismal development; compartment pattern specification; neuronal stem cell maintenance; loop of Henle development; proximal tubule development; regulation of neurogenesis; inner ear development; negative regulation of neuron differentiation; negative regulation of myeloid cell differentiation; negative regulation of auditory receptor cell differentiation; regulation of cell adhesion; cell differentiation; determination of left/right symmetry; hemopoiesis | 6q27 |
| DLL3 | tissue development; cell differentiation; negative regulation of neurogenesis; positive regulation of neurogenesis; negative regulation of astrocyte differentiation; paraxial mesoderm development; negative regulation of Notch signaling pathway; skeletal system development; somitogenesis; multicellular organismal development; compartment pattern specification; central nervous system development | 19q13 |
| DLL4 | negative regulation of blood vessel endothelial cell migration; Notch signaling pathway; Notch receptor processing; multicellular organismal development; blood circulation; cell differentiation; signal transduction; angiogenesis; regulation of neurogenesis | 15q14 |
| DLST | small molecule metabolic process; cellular nitrogen compound metabolic process; metabolic process; NADH metabolic process; lysine catabolic process; 2-oxoglutarate metabolic process; tricarboxylic acid cycle; generation of precursor metabolites and energy | 14q24.3 |
| DLSTP1 | - | 1p31 |
| DLX1 | negative regulation of neuron apoptosis; negative regulation of oligodendrocyte differentiation; embryonic skeletal system development; odontogenesis of dentin-containing tooth; cell differentiation; cerebral cortex GABAergic interneuron fate commitment; regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment; forebrain neuron differentiation; hippocampus development; negative regulation of transcription from RNA polymerase II promoter; multicellular organismal development; proximal/distal pattern formation | 2q32 |
| DLX2 | branching morphogenesis of a nerve; hippocampus development; proximal/distal pattern formation; brain development; multicellular organismal development; regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; cartilage development; negative regulation of oligodendrocyte differentiation; embryonic skeletal system development; embryonic cranial skeleton morphogenesis; positive regulation of transcription from RNA polymerase II promoter; odontogenesis of dentin-containing tooth; cell differentiation; olfactory bulb development; forebrain neuron differentiation; regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment; cerebral cortex GABAergic interneuron fate commitment | 2q32 |
| DLX3 | placenta development; regulation of transcription, DNA-dependent; multicellular organismal development; blood vessel development | 17q21 |
| DLX4 | regulation of transcription, DNA-dependent; multicellular organismal development | 17q21.33 |
| DLX5 | axon guidance; anatomical structure formation involved in morphogenesis; skeletal system development; embryonic limb morphogenesis; positive regulation of epithelial cell proliferation; palate development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of osteoblast differentiation; ear development; inner ear morphogenesis; specification of segmental identity, mandibular segment; epithelial cell differentiation; osteoblast differentiation; olfactory pit development; head development; face morphogenesis; bone morphogenesis; positive regulation of canonical Wnt receptor signaling pathway; cell proliferation; nervous system development; multicellular organismal development; endochondral ossification | 7q22 |
| DLX6 | skeletal system development; embryonic limb morphogenesis; epithelial cell differentiation; specification of segmental identity, mandibular segment; inner ear morphogenesis; anatomical structure formation involved in morphogenesis; positive regulation of epithelial cell proliferation; palate development; head development; regulation of transcription, DNA-dependent; multicellular organismal development; nervous system development | 7q22 |
| DLX6-AS1 | - | 7q21.3 |
| DMAP1 | histone H4 acetylation; positive regulation of transcription factor import into nucleus; regulation of growth; chromatin modification; DNA methylation; negative regulation of transcription from RNA polymerase II promoter; histone H2A acetylation; negative regulation of transcription, DNA-dependent | 1p34 |
| DMBT1 | positive regulation of epithelial cell differentiation; blastocyst development; inner cell mass cell proliferation; pattern recognition receptor signaling pathway; multicellular organismal development; response to wounding; response to virus; response to organic substance; protein transport; epithelial cell differentiation; tissue regeneration; induction of bacterial agglutination; response to estrogen stimulus; interspecies interaction between organisms; innate immune response | 10q26.13 |
| DMBT1P1 | - | 10q26.13 |
| DMBX1 | central nervous system development; multicellular organismal development; brain development; negative regulation of transcription, DNA-dependent; developmental growth | 1p33 |
| DMC1 | oocyte maturation; male meiosis I; spermatogenesis; spermatid development; pachytene; female gamete generation; reciprocal meiotic recombination; meiosis; cell cycle; DNA metabolic process; ovarian follicle development | 22q13.1 |
| DMD | olfactory nerve structural organization; neuron projection morphogenesis; muscle cell homeostasis; neurotransmitter receptor metabolic process; peptide biosynthetic process; regulation of transcription, DNA-dependent; muscle organ development; skeletal muscle tissue development; muscle filament sliding | Xp21.2 |
| DMGDH | choline metabolic process; glycine metabolic process; glycine catabolic process | 5q14.1 |
| DMKN | - | 19q13.12 |
| DMPK | regulation of sodium ion transport; protein phosphorylation; cellular calcium ion homeostasis; nuclear envelope organization; regulation of heart contraction; muscle cell apoptosis; regulation of myotube differentiation; regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction | 19q13.3 |
| DMRT1 | sex determination; regulation of transcription, DNA-dependent; multicellular organismal development; sex differentiation; male gonad development; intracellular signal transduction; cell differentiation | 9p24.3 |
| DMRT2 | male gonad development; sex differentiation; sex determination; regulation of transcription, DNA-dependent | 9p24.3 |
| DMRT3 | multicellular organismal development; sex differentiation; cell differentiation; regulation of transcription, DNA-dependent | 9p24.3 |
| DMRTA1 | regulation of transcription, DNA-dependent; sex differentiation; cell differentiation | 9p21.3 |
| DMRTA2 | sex differentiation; regulation of transcription, DNA-dependent | 1p32.3 |
| DMRTB1 | sex differentiation; regulation of transcription, DNA-dependent | 1p32.3 |
| DMRTC1 | - | Xq13.2 |
| DMRTC1B | regulation of transcription, DNA-dependent | Xq13.2 |
| DMRTC2 | cell differentiation; sex differentiation; regulation of transcription, DNA-dependent | 19q13.2 |
| DMTF1 | regulation of transcription, DNA-dependent; cell cycle | 7q21 |
| DMTN | - | 8p21.1 |
| DMWD | meiosis | 19q13.3 |
| DMXL1 | - | 5q22 |
| DMXL2 | - | 15q21.2 |
| DNA2 | telomere maintenance via semi-conservative replication; positive regulation of DNA replication; mitochondrial DNA repair; DNA replication, removal of RNA primer; base-excision repair; DNA strand elongation involved in DNA replication; mitochondrial DNA replication; ATP catabolic process; telomere maintenance; telomere maintenance via recombination; mitotic cell cycle; S phase of mitotic cell cycle | 10q21.3-q22.1 |
| DNAAF1 | axonemal dynein complex assembly; cilium morphogenesis | 16q24.1 |
| DNAAF2 | response to retinoic acid; ciliary cell motility; response to chemical stimulus; flagellar cell motility; axonemal dynein complex assembly | 14q21.3 |
| DNAAF3 | - | 19q13.4 |
| DNAAF5 | - | 7p22.3 |
| DNAH1 | response to mechanical stimulus; microtubule-based movement; ciliary or flagellar motility | 3p21.1 |
| DNAH10 | microtubule-based movement | 12q24.31 |
| DNAH10OS | - | 12q24.31 |
| DNAH11 | ciliary or flagellar motility; microtubule-based movement; determination of left/right symmetry; metabolic process | 7p21 |
| DNAH12 | microtubule-based movement | 3p14.3 |
| DNAH14 | microtubule-based movement | 1q42.12 |
| DNAH17 | ciliary or flagellar motility; microtubule-based movement | 17q25.3 |
| DNAH17-AS1 | - | - |
| DNAH2 | ciliary or flagellar motility; microtubule-based movement | 17p13.1 |
| DNAH3 | microtubule-based movement; ciliary or flagellar motility | 16p12.3 |
| DNAH5 | ciliary or flagellar motility; microtubule-based movement; metabolic process | 5p15.2 |
| DNAH6 | microtubule-based movement | 2p11.2 |
| DNAH7 | microtubule-based movement; ciliary or flagellar motility | 2q32.3 |
| DNAH8 | ciliary or flagellar motility; microtubule-based movement | 6p21.2 |
| DNAH9 | cell projection organization; spermatogenesis; microtubule-based movement; cellular component movement | 17p12 |
| DNAI1 | cell projection organization | 9p13.3 |
| DNAI2 | cell projection organization; cilium assembly | 17q25 |
| DNAJA1 | protein folding; response to unfolded protein; spermatogenesis; response to heat; sperm motility; androgen receptor signaling pathway | 9p13.3 |
| DNAJA1P3 | - | Xq22.3 |
| DNAJA1P5 | - | 1p22 |
| DNAJA2 | protein folding; positive regulation of cell proliferation; response to heat | 16q12.1 |
| DNAJA3 | negative regulation of interferon-gamma-mediated signaling pathway; skeletal muscle acetylcholine-gated channel clustering; neuromuscular junction development; small GTPase mediated signal transduction; mitochondrion organization; activation-induced cell death of T cells; activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; negative regulation of protein kinase activity; protein folding; mitochondrial DNA replication; negative regulation of transcription from RNA polymerase II promoter; cell aging; regulation of catalytic activity; cell death; negative regulation of cell proliferation; response to heat; embryo development; positive regulation of protein ubiquitination; negative regulation of NF-kappaB transcription factor activity; T cell differentiation in thymus; response to interferon-gamma; positive regulation of T cell proliferation; positive regulation of apoptotic process; negative regulation of apoptotic process; negative regulation of I-kappaB kinase/NF | 16p13.3 |
| DNAJA4 | response to heat; protein folding | 15q25.1 |
| DNAJB1 | response to stress; chaperone cofactor-dependent protein refolding; chaperone mediated protein folding requiring cofactor; response to unfolded protein; protein folding | 19p13.2 |
| DNAJB11 | activation of signaling protein activity involved in unfolded protein response; protein folding; mRNA modification; endoplasmic reticulum unfolded protein response | 3q27.3 |
| DNAJB12 | protein folding | 10q22.1 |
| DNAJB13 | protein folding; spermatogenesis; apoptotic process | 11q13.4 |
| DNAJB14 | protein folding | 4q23 |
| DNAJB2 | negative regulation of cell growth; negative regulation of protein deubiquitination; protein folding; response to unfolded protein; negative regulation of cell proliferation; ER-associated protein catabolic process; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of inclusion body assembly; positive regulation of protein ubiquitination | 2q32-q34 |
| DNAJB4 | response to heat; protein folding; response to unfolded protein | 1p31.1 |
| DNAJB5 | response to unfolded protein; negative regulation of transcription from RNA polymerase II promoter; protein folding | 9p13.3 |
| DNAJB5-AS1 | - | - |
| DNAJB6 | intermediate filament organization; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; protein folding; response to unfolded protein; positive regulation of ATPase activity | 7q36.3 |
| DNAJB7 | protein folding | 22q13.2 |
| DNAJB8-AS1 | - | 3q21.3 |
| DNAJB9 | endoplasmic reticulum unfolded protein response; ER-associated protein catabolic process; activation of signaling protein activity involved in unfolded protein response; protein folding | 7q31|14q24.2-q24.3 |
| DNAJC1 | regulation of transcription, DNA-dependent; regulation of translation; protein folding; positive regulation of ATPase activity; negative regulation of proteolysis; regulation of protein secretion | 10p12.31 |
| DNAJC10 | apoptosis in response to endoplasmic reticulum stress; glycerol ether metabolic process; protein folding; negative regulation of protein phosphorylation; ER-associated protein catabolic process; positive regulation of ATPase activity; response to endoplasmic reticulum stress; cell redox homeostasis; oxidation-reduction process | 2q32.1 |
| DNAJC11 | protein folding | 1p36.31 |
| DNAJC12 | protein folding | 10q22.1 |
| DNAJC13 | - | 3q22.1 |
| DNAJC14 | protein folding; protein transport | 12q13.2 |
| DNAJC15 | - | 13q14.1 |
| DNAJC16 | cell redox homeostasis; protein folding | 1p36.1 |
| DNAJC17 | protein folding | 15q15.1 |
| DNAJC18 | protein folding | 5q31.2 |
| DNAJC19 | genitalia development; protein transport; visual perception; protein targeting to mitochondrion; protein folding | 3q26.33 |
| DNAJC19P1 | - | 10q21.3 |
| DNAJC19P5 | - | 2q |
| DNAJC19P6 | - | 6q |
| DNAJC2 | G2 phase of mitotic cell cycle; DNA replication; chromatin modification; negative regulation of cell growth; positive regulation of transcription, DNA-dependent; 'de novo' cotranslational protein folding | 7q22 |
| DNAJC21 | protein folding | 5p13.2 |
| DNAJC22 | protein folding | 12q13.12 |
| DNAJC24 | protein folding | 11p13 |
| DNAJC25 | protein folding | 9q31.3 |
| DNAJC25-GNG10 | - | 9q31.3 |
| DNAJC27 | small GTPase mediated signal transduction; protein folding | 2p23.3 |
| DNAJC27-AS1 | - | 2p23.3 |
| DNAJC28 | - | 21q22.11 |
| DNAJC3 | endoplasmic reticulum unfolded protein response; protein folding; response to unfolded protein; activation of signaling protein activity involved in unfolded protein response; response to virus; proteolysis involved in cellular protein catabolic process | 13q32.1 |
| DNAJC3-AS1 | - | 13q32.1 |
| DNAJC30 | protein folding | 7q11.23 |
| DNAJC4 | response to unfolded protein; protein folding | 11q13 |
| DNAJC5 | neurotransmitter secretion; cell death; negative regulation of neuron apoptosis; synaptic transmission; protein folding | 20q13.33 |
| DNAJC5B | protein folding | 8q13.1 |
| DNAJC5G | protein folding | 2p23.3 |
| DNAJC6 | post-Golgi vesicle-mediated transport; cellular membrane organization | 1p31.3 |
| DNAJC7 | chaperone cofactor-dependent protein refolding; protein folding | 17q11.2 |
| DNAJC8 | gene expression; nuclear mRNA splicing, via spliceosome; RNA splicing; protein folding | 1p35.3 |
| DNAJC8P1 | - | 14q13.2 |
| DNAJC9 | protein folding; social behavior | 10q22.2 |
| DNAJC9-AS1 | - | 10q22.2 |
| DNAL1 | - | 14q24.3 |
| DNAL4 | microtubule-based movement; nerve growth factor receptor signaling pathway | 22q13.1 |
| DNALI1 | cellular component movement; single fertilization | 1p35.1 |
| DNASE1 | DNA catabolic process; apoptotic process | 16p13.3 |
| DNASE1L1 | DNA metabolic process; DNA catabolic process | Xq28 |
| DNASE1L2 | DNA metabolic process; DNA catabolic process | 16p13.3 |
| DNASE1L3 | DNA metabolic process; DNA catabolic process; DNA fragmentation involved in apoptotic nuclear change; apoptotic process | 3p14.3 |
| DNASE2 | multicellular organismal development; apoptotic process; DNA catabolic process; DNA metabolic process; metabolic process; erythrocyte differentiation | 19p13.2 |
| DNASE2B | metabolic process; DNA metabolic process | 1p22.3 |
| DND1 | germ cell development; negative regulation of gene silencing by miRNA; multicellular organismal development | 5q31.3 |
| DND1P2 | - | 17q21.31 |
| DNER | Notch receptor processing; central nervous system development; Notch signaling pathway; neuron migration; glial cell differentiation; synapse assembly; skeletal muscle fiber development; endocytosis | 2q36.3 |
| DNHD1 | microtubule-based movement | 11p15.4 |
| DNLZ | - | 9q34.3 |
| DNM1 | GTP catabolic process; receptor-mediated endocytosis; endosome organization; endocytosis | 9q34 |
| DNM1L | peroxisome fission; dynamin polymerization involved in mitochondrial fission; apoptotic process; cellular component disassembly involved in apoptosis; mitochondrial fragmentation involved in apoptosis; positive regulation of protein secretion; positive regulation of mitochondrial fission; membrane fission involved in mitochondrial fission; positive regulation of intrinsic apoptotic signaling pathway | 12p11.21 |
| DNM1P17 | - | 10p11.23 |
| DNM1P26 | - | Yq11.23 |
| DNM1P30 | - | 15q13.2 |
| DNM1P31 | - | 15q13.3 |
| DNM1P32 | - | 15q13.3 |
| DNM1P33 | - | 15q23 |
| DNM1P34 | - | 15q24.2 |
| DNM1P35 | - | 15q24.2 |
| DNM1P41 | - | 15q25.2 |
| DNM1P46 | - | 15q26.3 |
| DNM1P47 | - | 15q26.3 |
| DNM1P5 | - | 15q14 |
| DNM1P50 | - | - |
| DNM2 | synaptic vesicle transport; G2/M transition of mitotic cell cycle; GTP catabolic process; regulation of transcription, DNA-dependent; post-Golgi vesicle-mediated transport; endocytosis; signal transduction; cellular membrane organization; receptor internalization; transferrin transport; positive regulation of apoptotic process; positive regulation of transcription, DNA-dependent | 19p13.2 |
| DNM3 | synapse assembly; endocytosis; GTP catabolic process; filopodium assembly | 1q24.3 |
| DNM3-IT1 | - | - |
| DNM3OS | - | 1q24.3 |
| DNMBP | intracellular signal transduction; regulation of Rho protein signal transduction | 10q24.2 |
| DNMBP-AS1 | - | 10q24.2 |
| DNMT1 | C-5 methylation of cytosine; cellular response to amino acid stimulus; negative regulation of histone H3-K9 methylation; positive regulation of histone H3-K4 methylation; regulation of cell proliferation; chromatin modification; gene silencing; positive regulation of gene expression; maintenance of DNA methylation; DNA methylation; negative regulation of transcription from RNA polymerase II promoter | 19p13.2 |
| DNMT3A | DNA methylation; negative regulation of transcription from RNA polymerase II promoter; S-adenosylhomocysteine metabolic process; S-adenosylmethioninamine metabolic process; cellular response to amino acid stimulus; hypermethylation of CpG island; DNA methylation involved in gamete generation; DNA methylation involved in embryo development; chromatin modification; DNA methylation on cytosine within a CG sequence; spermatogenesis; regulation of gene expression by genetic imprinting; methylation-dependent chromatin silencing; C-5 methylation of cytosine | 2p23 |
| DNMT3AP1 | - | 2p14 |
| DNMT3B | negative regulation of histone H3-K9 methylation; C-5 methylation of cytosine; cellular response to amino acid stimulus; response to drug; negative regulation of transcription from RNA polymerase II promoter; DNA methylation; methylation-dependent chromatin silencing; regulation of gene expression by genetic imprinting; response to ionizing radiation; DNA methylation on cytosine within a CG sequence; positive regulation of gene expression; protein complex localization; positive regulation of histone H3-K4 methylation; DNA methylation involved in embryo development; positive regulation of neuron differentiation; negative regulation of gene expression, epigenetic; S-adenosylhomocysteine metabolic process; S-adenosylmethioninamine metabolic process | 20q11.2 |
| DNMT3L | spermatogenesis; regulation of gene expression by genetic imprinting; DNA methylation; positive regulation of catalytic activity; in utero embryonic development; negative regulation of transcription, DNA-dependent | 21q22.3 |
| DNPEP | proteolysis; peptide metabolic process | 2q35 |
| DNPH1 | - | 6p21.1 |
| DNTT | DNA modification | 10q23-q24 |
| DNTTIP1 | - | 20q13.12 |
| DNTTIP2 | regulation of transcription, DNA-dependent | 1p22.1 |
| DOC2A | synaptic transmission; nervous system development; synaptic vesicle exocytosis; regulation of calcium ion-dependent exocytosis | 16p11.2 |
| DOC2B | protein localization; positive regulation of insulin secretion; positive regulation of calcium ion-dependent exocytosis; calcium ion-dependent exocytosis of neurotransmitter; positive regulation of vesicle fusion; exocytosis | 17p13.3 |
| DOC2GP | - | 11q13.2 |
| DOCK1 | phagocytosis, engulfment; positive regulation of GTPase activity; cell migration; blood coagulation; axon guidance; small GTPase mediated signal transduction; integrin-mediated signaling pathway; signal transduction; apoptotic process | 10q26.13-q26.3 |
| DOCK10 | regulation of catalytic activity | 2q36.2 |
| DOCK11 | regulation of catalytic activity; blood coagulation | Xq24 |
| DOCK11P1 | - | 14q21.2 |
| DOCK2 | membrane raft polarization; establishment of T cell polarity; immunological synapse formation; chemotaxis; viral reproduction; actin cytoskeleton organization; positive thymic T cell selection; negative thymic T cell selection; alpha-beta T cell proliferation; regulation of defense response to virus by virus | 5q35.1 |
| DOCK3 | - | 3p21.2 |
| DOCK4 | positive regulation of Rac GTPase activity; cell chemotaxis | 7q31.1 |
| DOCK5 | - | 8p21.2 |
| DOCK6 | blood coagulation | 19p13.2 |
| DOCK7 | microtubule cytoskeleton organization; positive regulation of peptidyl-serine phosphorylation; multicellular organismal development; nervous system development; axonogenesis; establishment of neuroblast polarity; cell differentiation; neuron projection development; activation of Rac GTPase activity | 1p31.3 |
| DOCK8 | blood coagulation | 9p24.3 |
| DOCK9 | blood coagulation | 13q32.3 |
| DOCK9-AS1 | - | - |
| DOCK9-AS2 | - | 13q32.3 |
| DOHH | cellular protein metabolic process; post-translational protein modification; peptidyl-lysine modification to hypusine | 19p13.3 |
| DOK1 | intracellular protein kinase cascade; cell surface receptor signaling pathway; insulin receptor signaling pathway; Ras protein signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway; signal transduction | 2p13 |
| DOK2 | leukocyte migration; blood coagulation; Ras protein signal transduction; signal transduction; cell surface receptor signaling pathway | 8p21.3 |
| DOK3 | Ras protein signal transduction | 5q35.3 |
| DOK4 | transmembrane receptor protein tyrosine kinase signaling pathway; MAPK cascade; nervous system development | 16q21 |
| DOK5 | nervous system development; MAPK cascade; transmembrane receptor protein tyrosine kinase signaling pathway | 20q13.2 |
| DOK6 | - | 18q22.2 |
| DOK7 | positive regulation of protein tyrosine kinase activity | 4p16.3 |
| DOLK | cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; post-translational protein modification; dolichyl monophosphate biosynthetic process; protein N-linked glycosylation via asparagine; dolichyl diphosphate biosynthetic process | 9q34.11 |
| DOLPP1 | post-translational protein modification; cellular protein metabolic process; protein N-linked glycosylation via asparagine; dolichyl diphosphate biosynthetic process; dolichol-linked oligosaccharide biosynthetic process; protein N-linked glycosylation | 9q34.1 |
| DONSON | multicellular organismal development | 21q22.1 |
| DOPEY1 | Golgi to endosome transport; endoplasmic reticulum organization; protein transport | 6q15 |
| DOPEY2 | Golgi to endosome transport; endoplasmic reticulum organization; multicellular organismal development; protein transport | 21q22.2 |
| DOT1L | chromatin modification; histone lysine methylation; regulation of JAK-STAT cascade; regulation of transcription regulatory region DNA binding | 19p13.3 |
| DPAGT1 | protein N-linked glycosylation; protein oligomerization; cellular protein metabolic process; post-translational protein modification; dolichol biosynthetic process; protein N-linked glycosylation via asparagine; metabolic process; dolichol-linked oligosaccharide biosynthetic process; UDP-N-acetylglucosamine metabolic process | 11q23.3 |
| DPCD | - | 10q24.32 |
| DPCR1 | - | 6p21.33 |
| DPEP1 | negative regulation of cell migration; cellular response to drug; negative regulation of apoptotic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; proteolysis; glutathione metabolic process; antibiotic metabolic process; cellular response to calcium ion; homocysteine metabolic process; cellular lactam catabolic process; cellular response to nitric oxide | 16q24.3 |
| DPEP2 | small molecule metabolic process; leukotriene biosynthetic process; prostanoid metabolic process; proteolysis | 16q22.1 |
| DPEP3 | meiosis; proteolysis | 16q22.1 |
| DPF1 | nervous system development; induction of apoptosis; regulation of transcription, DNA-dependent | 19q13.2 |
| DPF2 | regulation of transcription, DNA-dependent; induction of apoptosis by extracellular signals; induction of apoptosis; apoptotic process | 11q13 |
| DPF3 | regulation of transcription, DNA-dependent; nervous system development; chromatin modification | 14q24.2 |
| DPH1 | translation; cell proliferation; peptidyl-diphthamide biosynthetic process from peptidyl-histidine | 17p13.3 |
| DPH2 | peptidyl-diphthamide biosynthetic process from peptidyl-histidine | 1p34 |
| DPH3 | positive regulation of binding; peptidyl-diphthamide biosynthetic process from peptidyl-histidine; negative regulation of protein secretion | 3p25.1 |
| DPH3P1 | - | 20q13.33 |
| DPH5 | peptidyl-diphthamide biosynthetic process from peptidyl-histidine; metabolic process | 1p21.2 |
| DPH6 | - | 15q14 |
| DPH7 | - | 9q34.3 |
| DPM1 | protein N-linked glycosylation via asparagine; dolichol-linked oligosaccharide biosynthetic process; C-terminal protein lipidation; GPI anchor biosynthetic process; dolichol metabolic process; GDP-mannose metabolic process; protein mannosylation; protein O-linked mannosylation; post-translational protein modification; cellular protein metabolic process | 20q13.13 |
| DPM2 | GPI anchor biosynthetic process; macromolecule biosynthetic process; preassembly of GPI anchor in ER membrane; protein N-linked glycosylation via asparagine; cellular protein metabolic process; post-translational protein modification; C-terminal protein lipidation; protein O-linked mannosylation; dolichol-linked oligosaccharide biosynthetic process; regulation of protein stability | 9q34.13 |
| DPM3 | GPI anchor biosynthetic process; C-terminal protein lipidation; dolichol-linked oligosaccharide biosynthetic process; cellular protein metabolic process; carbohydrate metabolic process; protein N-linked glycosylation via asparagine; protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan; regulation of protein stability; post-translational protein modification; protein O-linked mannosylation; protein mannosylation | 1q22 |
| DPP10 | proteolysis | 2q14.1 |
| DPP10-AS1 | - | 2q14.1 |
| DPP10-AS3 | - | 2q14.1 |
| DPP3 | proteolysis | 11q12-q13.1 |
| DPP4 | cell adhesion; establishment of localization; endothelial cell migration; T cell activation; regulation of cell-cell adhesion mediated by integrin; T cell costimulation; negative regulation of extracellular matrix disassembly; positive regulation of cell proliferation; proteolysis; regulation of T cell mediated immunity; response to hypoxia | 2q24.3 |
| DPP6 | proteolysis; cell death | 7q36.2 |
| DPP7 | proteolysis | 9q34.3 |
| DPP8 | immune response; proteolysis | 15q22 |
| DPP9 | proteolysis | 19p13.3 |
| DPP9-AS1 | - | 19p13.3 |
| DPPA2P1 | - | - |
| DPPA2P3 | - | 3q29 |
| DPPA2P4 | - | 16q13 |
| DPPA4 | multicellular organismal development | 3q13.13 |
| DPPA5P2 | - | - |
| DPRXP1 | - | 2q32.1 |
| DPRXP4 | - | 17q11.2 |
| DPRXP6 | - | Xp11.4 |
| DPT | cell adhesion; negative regulation of cell proliferation; collagen fibril organization | 1q12-q23 |
| DPY19L1 | - | 7p14.3-p14.2 |
| DPY19L1P1 | - | 7p14.3 |
| DPY19L2 | multicellular organismal development; spermatid development; cell differentiation; spermatogenesis | 12q14.2 |
| DPY19L2P1 | - | 7p14.2 |
| DPY19L2P2 | - | 7q22.1 |
| DPY19L2P3 | - | 7p15.1 |
| DPY19L2P4 | - | 7q21.13 |
| DPY19L3 | - | 19q13.11 |
| DPY19L4 | - | 8q22.1 |
| DPY30 | regulation of transcription, DNA-dependent; endosome transport; chromatin modification; histone H3-K4 methylation | 2p22.3 |
| DPYD | thymidine catabolic process; nucleobase-containing small molecule metabolic process; pyrimidine nucleoside catabolic process; small molecule metabolic process; UMP biosynthetic process; uracil catabolic process; thymine catabolic process; pyrimidine base catabolic process; pyrimidine base metabolic process; purine base catabolic process | 1p22 |
| DPYD-IT1 | - | - |
| DPYS | nucleobase-containing small molecule metabolic process; protein homotetramerization; pyrimidine nucleoside catabolic process; small molecule metabolic process; uracil catabolic process; thymine catabolic process; pyrimidine base catabolic process; pyrimidine base metabolic process; beta-alanine metabolic process | 8q22 |
| DPYSL2 | positive regulation of glutamate secretion; synaptic vesicle transport; regulation of neuron differentiation; response to drug; response to cocaine; cell differentiation; olfactory bulb development; spinal cord development; brain development; axon guidance; nervous system development; multicellular organismal development; signal transduction; cytoskeleton organization; pyrimidine base catabolic process; nucleobase-containing compound metabolic process; response to amphetamine | 8p22-p21 |
| DPYSL3 | axon guidance; cellular response to cytokine stimulus; actin crosslink formation; positive regulation of filopodium assembly; protein homooligomerization; actin filament bundle assembly; negative regulation of cell migration; negative regulation of neuron projection development; positive regulation of neuron projection development; pyrimidine base catabolic process; response to axon injury | 5q32 |
| DPYSL4 | pyrimidine base catabolic process; nervous system development; axon guidance | 10q26 |
| DPYSL5 | axon guidance; neuron differentiation; nervous system development; signal transduction; pyrimidine base catabolic process | 2p23.3 |
| DQX1 | - | 2p13.1 |
| DR1 | negative regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; histone H3 acetylation | 1p22.1 |
| DRAIC | - | 15q23 |
| DRAM1 | autophagy; apoptotic process | 12q23.2 |
| DRAM2 | induction of apoptosis; apoptotic process | 1p13.3 |
| DRAP1 | negative regulation of transcription from RNA polymerase II promoter | 11q13.3 |
| DRAXIN | - | 1p36.22 |
| DRC1 | - | 2p23.3 |
| DRC3 | - | 17p11.2 |
| DRC7 | spermatogenesis; ciliary or flagellar motility; cell differentiation | 16q21 |
| DRD1 | synaptic transmission, dopaminergic; behavioral fear response; conditioned taste aversion; temperature homeostasis; response to amphetamine; negative regulation of protein kinase activity; protein import into nucleus; intracellular protein transport; muscle contraction; G-protein signaling, coupled to cyclic nucleotide second messenger; activation of adenylate cyclase activity by G-protein signaling pathway; behavioral response to cocaine; operant conditioning; regulation of dopamine metabolic process; negative regulation of circadian sleep/wake cycle, sleep; dopamine metabolic process; response to drug; eating behavior; positive regulation of potassium ion transport; regulation of ion transport; glucose import; sensitization; activation of adenylate cyclase activity by dopamine receptor signaling pathway; regulation of long-term neuronal synaptic plasticity; positive regulation of release of sequestered calcium ion into cytosol; elevation of cytosolic calcium ion concentration involved in G-protein signaling | 5q35.1 |
| DRD2 | cerebral cortex GABAergic interneuron migration; Wnt receptor signaling pathway; regulation of dopamine secretion; response to iron ion; response to toxin; response to light stimulus; visual learning; associative learning; negative regulation of cell proliferation; protein localization; feeding behavior; adenohypophysis development; negative regulation of cell migration; peristalsis; regulation of cAMP metabolic process; forebrain development; auditory behavior; activation of protein kinase activity; regulation of synaptic transmission, GABAergic; circadian regulation of gene expression; response to histamine; response to nicotine; positive regulation of urine volume; G-protein signaling, coupled to cAMP nucleotide second messenger; temperature homeostasis; response to hypoxia; synaptic transmission, dopaminergic; response to amphetamine; neurological system process involved in regulation of systemic arterial blood pressure; regulation of heart rate; regulation of sodium ion transport; G-protein coupled recep | 11q23 |
| DRD3 | learning; positive regulation of transcription from RNA polymerase II promoter; positive regulation of mitosis; negative regulation of blood pressure; response to ethanol; regulation of circadian sleep/wake cycle, sleep; response to morphine; response to drug; dopamine metabolic process; response to cocaine; regulation of multicellular organism growth; acid secretion; behavioral response to cocaine; negative regulation of oligodendrocyte differentiation; arachidonic acid secretion; negative regulation of protein secretion; musculoskeletal movement, spinal reflex action; regulation of dopamine uptake; negative regulation of protein kinase B signaling cascade; prepulse inhibition; negative regulation of dopamine receptor signaling pathway; positive regulation of dopamine receptor signaling pathway; social behavior; negative regulation of transcription from RNA polymerase II promoter; synaptic transmission, dopaminergic; response to amphetamine; regulation of blood volume by renin-angiotensin; G-protein coupled | 3q13.3 |
| DRD4 | response to histamine; positive regulation of kinase activity; positive regulation of sodium:hydrogen antiporter activity; negative regulation of cAMP biosynthetic process; olfactory learning; adult locomotory behavior; short-term memory; dopamine receptor signaling pathway; inhibition of adenylate cyclase activity by dopamine receptor signaling pathway; negative regulation of adenylate cyclase activity; cellular calcium ion homeostasis; response to amphetamine; synaptic transmission, dopaminergic; behavioral fear response; activation of MAPK activity; regulation of dopamine metabolic process; social behavior; regulation of inhibitory postsynaptic membrane potential; negative regulation of calcium ion transport via voltage-gated calcium channel activity; positive regulation of dopamine uptake; regulation of calcium-mediated signaling; negative regulation of protein secretion; behavioral response to ethanol; behavioral response to cocaine; regulation of neurotransmitter secretion; fear response; dopamine metab | 11p15.5 |
| DRD5P2 | - | 1q21.1 |
| DRG1 | transcription, DNA-dependent; multicellular organismal development | 22q12.2 |
| DRG2 | signal transduction | 17p11.2 |
| DRGX | multicellular organismal development | 10q11.23 |
| DRICH1 | - | 22q11.2 |
| DROSHA | ribosome biogenesis; gene silencing by RNA; rRNA catabolic process; RNA processing | 5p13.3 |
| DRP2 | central nervous system development | Xq22 |
| DSC1 | cell adhesion; homophilic cell adhesion | 18q12.1 |
| DSC2 | cell adhesion; homophilic cell adhesion | 18q12.1 |
| DSC3 | cell adhesion; homophilic cell adhesion; protein stabilization | 18q12.1 |
| DSCAM | dendrite self-avoidance; post-embryonic retina morphogenesis in camera-type eye; nervous system development; positive regulation of axon extension involved in axon guidance; dendrite morphogenesis; locomotory behavior; negative regulation of cell adhesion; cell adhesion; positive regulation of phosphorylation | 21q22.2 |
| DSCAM-AS1 | - | - |
| DSCAM-IT1 | - | - |
| DSCAML1 | dorsal/ventral pattern formation; embryonic skeletal system morphogenesis; dendrite self-avoidance; brain development; central nervous system development; axonogenesis; negative regulation of cell adhesion; cell fate determination; homophilic cell adhesion | 11q23 |
| DSCC1 | cell cycle; post-translational protein acetylation; maintenance of mitotic sister chromatid cohesion; regulation of DNA replication | 8q24.12 |
| DSCR10 | - | 21q22.13 |
| DSCR3 | vacuolar transport | 21q22.2 |
| DSCR4 | - | 21q22.2 |
| DSCR8 | - | 21q22.2 |
| DSCR9 | - | 21q22.13 |
| DSE | dermatan sulfate biosynthetic process | 6q22 |
| DSEL | - | 18q22.1 |
| DSERG1 | - | - |
| DSG1 | apoptotic process; cellular component disassembly involved in apoptosis; cell-cell junction assembly; homophilic cell adhesion; cell-cell adhesion; calcium-dependent cell-cell adhesion; protein stabilization | 18q12.1 |
| DSG2 | cellular component disassembly involved in apoptosis; execution phase of apoptosis; homophilic cell adhesion; cell adhesion; apoptotic process | 18q12.1 |
| DSG2-AS1 | - | - |
| DSG3 | apoptotic process; cellular component disassembly involved in apoptosis; cell adhesion; homophilic cell adhesion | 18q12.1 |
| DSG4 | homophilic cell adhesion; cell adhesion | 18q12.1 |
| DSN1 | cell division; chromosome segregation; mitotic cell cycle; mitotic prometaphase; M phase of mitotic cell cycle | 20q11.23 |
| DSP | epidermis development; skin development; wound healing; adherens junction organization; keratinocyte differentiation; cell-cell adhesion; cellular component disassembly involved in apoptosis; apoptotic process; peptide cross-linking | 6p24 |
| DSPP | skeletal system development; ossification; multicellular organismal development; biomineral tissue development; cellular response to cell-matrix adhesion | 4q21.3 |
| DST | intermediate filament cytoskeleton organization; cell motility; intracellular transport; hemidesmosome assembly; cytoplasmic microtubule organization; regulation of microtubule polymerization or depolymerization; maintenance of cell polarity; cytoskeleton organization; cell cycle arrest; cell adhesion; integrin-mediated signaling pathway; axonogenesis; retrograde axon cargo transport; response to wounding; microtubule cytoskeleton organization | 6p12.1 |
| DSTN | cytokinesis; cellular component movement; actin polymerization or depolymerization; positive regulation of actin filament depolymerization; actin filament severing | 20p12.1 |
| DSTNP2 | - | 12p13 |
| DSTNP3 | - | 8q21.11 |
| DSTYK | - | 1q32.1 |
| DTD1 | D-amino acid catabolic process | 20p11.23 |
| DTD2 | - | 14q12 |
| DTHD1 | signal transduction | 4p14 |
| DTL | protein polyubiquitination; DNA replication; ubiquitin-dependent protein catabolic process; protein monoubiquitination; response to DNA damage stimulus; response to UV; translesion synthesis; G2/M transition DNA damage checkpoint; regulation of cell cycle | 1q32 |
| DTNA | neuromuscular synaptic transmission; synaptic transmission; signal transduction; striated muscle contraction | 18q12 |
| DTNB | - | 2p24 |
| DTNBP1 | neuron projection morphogenesis; neuron projection development; cellular membrane organization; blood coagulation; organelle organization; post-Golgi vesicle-mediated transport; actin cytoskeleton reorganization; response to stimulus; platelet dense granule organization; regulation of dopamine receptor signaling pathway | 6p22.3 |
| DTWD1 | - | 15q21.2 |
| DTWD2 | - | 5q23.1 |
| DTX1 | transcription, DNA-dependent; transcription from RNA polymerase II promoter; cell surface receptor signaling pathway; regulation of Notch signaling pathway; glial cell differentiation; negative regulation of T cell differentiation; negative regulation of neuron differentiation | 12q24.13 |
| DTX2 | Notch signaling pathway | 7q11.23 |
| DTX2P1-UPK3BP1-PMS2P11 | - | 7q11.23 |
| DTX3 | Notch signaling pathway | 12q13.3 |
| DTX3L | response to DNA damage stimulus; histone monoubiquitination; chromatin modification | 3q21.1 |
| DTX4 | Notch signaling pathway | 11q12.1 |
| DTYMK | cellular response to growth factor stimulus; nucleobase-containing small molecule metabolic process; nucleoside monophosphate phosphorylation; small molecule metabolic process; nucleobase-containing small molecule interconversion; cell proliferation; cell cycle; dTDP biosynthetic process | 2q37.3 |
| DUBR | - | 3q13.12 |
| DUOX1 | oxidation-reduction process; response to oxidative stress; cytokine-mediated signaling pathway; cuticle development; hormone biosynthetic process; superoxide anion generation; hydrogen peroxide catabolic process; hydrogen peroxide biosynthetic process; response to cAMP | 15q15.3 |
| DUOX2 | oxidation-reduction process; response to cAMP; adenohypophysis morphogenesis; inner ear development; hydrogen peroxide catabolic process; hormone biosynthetic process; thyroid hormone metabolic process; cuticle development; multicellular organism growth; thyroid gland development; bone mineralization; cytokine-mediated signaling pathway; response to virus; fertilization; response to oxidative stress | 15q15.3 |
| DUOXA1 | protein transport | 15q21.1 |
| DUOXA2 | protein transport | 15q15.1 |
| DUPD1 | protein dephosphorylation | 10q22.2 |
| DUS1L | tRNA processing | 17q25.3 |
| DUS2 | tRNA processing | 16q22.1 |
| DUS3L | tRNA processing | 19p13.3 |
| DUS4L | tRNA processing | 7q22-q31 |
| DUSP1 | regulation of apoptotic process; positive regulation of anti-apoptosis; response to hydrogen peroxide; intracellular signal transduction; response to testosterone stimulus; cellular response to hormone stimulus; response to retinoic acid; response to estradiol stimulus; response to light stimulus; cell cycle; response to oxidative stress; positive regulation of apoptotic process; protein dephosphorylation; endoderm formation; inactivation of MAPK activity; response to glucocorticoid stimulus; response to cAMP; response to calcium ion | 5q34 |
| DUSP10 | negative regulation of stress-activated MAPK cascade; negative regulation of respiratory burst involved in inflammatory response; negative regulation of JNK cascade; regulation of innate immune response; inactivation of MAPK activity; regulation of adaptive immune response; protein dephosphorylation; JNK cascade; negative regulation of JUN kinase activity; response to lipopolysaccharide; response to organic substance; response to stress | 1q41 |
| DUSP11 | RNA processing; peptidyl-tyrosine dephosphorylation | 2p13.1 |
| DUSP12 | peptidyl-tyrosine dephosphorylation; positive regulation of glucokinase activity; JNK cascade; protein dephosphorylation; protein modification process | 1q21-q22 |
| DUSP13 | protein dephosphorylation; meiosis; spermatogenesis | 10q22.2 |
| DUSP14 | peptidyl-tyrosine dephosphorylation | 17q12 |
| DUSP15 | protein dephosphorylation | 20q11.21 |
| DUSP16 | protein dephosphorylation; inactivation of MAPK activity; dephosphorylation; MAPK phosphatase export from nucleus, leptomycin B sensitive; MAPK export from nucleus | 12p13 |
| DUSP18 | peptidyl-tyrosine dephosphorylation | 22q12.2 |
| DUSP19 | negative regulation of JNK cascade; positive regulation of JNK cascade; negative regulation of protein kinase activity; protein dephosphorylation; positive regulation of protein phosphorylation; positive regulation of protein kinase activity; negative regulation of JUN kinase activity; positive regulation of JUN kinase activity; positive regulation of MAPK cascade; JNK cascade; inactivation of MAPK activity | 2q32.1 |
| DUSP2 | inactivation of MAPK activity; endoderm formation; protein dephosphorylation; peptidyl-tyrosine dephosphorylation; regulation of apoptotic process | 2q11 |
| DUSP21 | peptidyl-tyrosine dephosphorylation | Xp11.4-p11.23 |
| DUSP22 | multicellular organismal development; cell proliferation; regulation of cell proliferation; positive regulation of JNK cascade; transforming growth factor beta receptor signaling pathway; apoptotic process; protein dephosphorylation; inactivation of MAPK activity | 6p25.3 |
| DUSP23 | - | 1q23.2 |
| DUSP26 | protein dephosphorylation | 8p12 |
| DUSP27 | protein dephosphorylation | 1q22-q24 |
| DUSP28 | peptidyl-tyrosine dephosphorylation | 2q37.3 |
| DUSP3 | toll-like receptor 4 signaling pathway; positive regulation of mitotic cell cycle; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; Toll signaling pathway; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; toll-like receptor signaling pathway; in utero embryonic development; inactivation of MAPK activity; TRIF-dependent toll-like receptor signaling pathway; innate immune response; negative regulation of MAPK cascade; negative regulation of JNK cascade; nerve growth factor receptor signaling pathway; negative regulation of T cell receptor signaling pathway; negative regulation of T cell activation; stress-activated MAPK cascade; negative regulation of ERK1 and ERK2 cascade; peptidyl-tyrosine dephosphorylation | 17q21 |
| DUSP4 | nerve growth factor receptor signaling pathway; MAPK cascade; inactivation of MAPK activity; endoderm formation; toll-like receptor signaling pathway; stress-activated MAPK cascade; innate immune response; TRIF-dependent toll-like receptor signaling pathway; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; response to organic substance; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; protein dephosphorylation; Toll signaling pathway | 8p12-p11 |
| DUSP5 | endoderm formation; negative regulation of transcription, DNA-dependent; peptidyl-tyrosine dephosphorylation; protein dephosphorylation; inactivation of MAPK activity | 10q25 |
| DUSP5P1 | - | 1q42.13 |
| DUSP6 | nerve growth factor receptor signaling pathway; TRIF-dependent toll-like receptor signaling pathway; regulation of fibroblast growth factor receptor signaling pathway; response to drug; regulation of endodermal cell fate specification; positive regulation of apoptotic process; innate immune response; negative regulation of protein phosphorylation; stress-activated MAPK cascade; response to nitrosative stress; regulation of heart growth; negative regulation of ERK1 and ERK2 cascade; response to growth factor stimulus; toll-like receptor 4 signaling pathway; peptidyl-tyrosine dephosphorylation; inactivation of MAPK activity; toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; MyD88-independent toll-like receptor signaling pathway; Toll signaling pathway; dorsal/ventral pattern formation; response to organic cyclic compound; cell differentiation; toll-like receptor 1 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 3 signaling pathway | 12q22-q23 |
| DUSP7 | stress-activated MAPK cascade; nerve growth factor receptor signaling pathway; toll-like receptor signaling pathway; innate immune response; negative regulation of MAP kinase activity; TRIF-dependent toll-like receptor signaling pathway; peptidyl-tyrosine dephosphorylation; toll-like receptor 4 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 2 signaling pathway; toll-like receptor 1 signaling pathway; Toll signaling pathway; MyD88-independent toll-like receptor signaling pathway; MyD88-dependent toll-like receptor signaling pathway; inactivation of MAPK activity | 3p21 |
| DUSP8 | peptidyl-tyrosine dephosphorylation; inactivation of MAPK activity; protein dephosphorylation | 11p15.5 |
| DUSP8P4 | - | 10q11.22 |
| DUSP9 | protein dephosphorylation; inactivation of MAPK activity; JNK cascade | Xq28 |
| DUT | nucleobase-containing small molecule metabolic process; nucleobase-containing compound metabolic process; pyrimidine base metabolic process; DNA replication; nucleotide metabolic process; small molecule metabolic process; dUTP metabolic process; pyrimidine nucleoside biosynthetic process | 15q21.1 |
| DUTP6 | - | - |
| DUTP7 | - | - |
| DUX4L9 | cell proliferation; regulation of gene expression | 4q35.2 |
| DUXAP10 | - | 14q11.2 |
| DUXAP3 | - | 10q11.21 |
| DUXAP7 | - | 20p11.23 |
| DUXAP8 | - | 22q11.21 |
| DVL1 | receptor clustering; protein localization to microtubule; intracellular signal transduction; positive regulation of transcription, DNA-dependent; collateral sprouting; axon extension; dendrite morphogenesis; synapse organization; convergent extension; canonical Wnt receptor signaling pathway; Wnt receptor signaling pathway, planar cell polarity pathway; prepulse inhibition; skeletal muscle acetylcholine-gated channel clustering; cochlea morphogenesis; planar cell polarity pathway involved in neural tube closure; positive regulation of canonical Wnt receptor signaling pathway; regulation of neurotransmitter levels; protein localization to nucleus; negative regulation of protein phosphorylation; transcription from RNA polymerase II promoter; negative regulation of protein kinase activity; signal transduction; neurotransmitter secretion; multicellular organismal development; axon guidance; heart development; neuromuscular junction development; positive regulation of neuron projection development; neural tube dev | 1p36 |
| DVL2 | heart development; convergent extension involved in neural plate elongation; cellular protein localization; intracellular signal transduction; non-canonical Wnt receptor signaling pathway; positive regulation of JUN kinase activity; canonical Wnt receptor signaling pathway involved in regulation of cell proliferation; positive regulation of transcription, DNA-dependent; positive regulation of sequence-specific DNA binding transcription factor activity; convergent extension; canonical Wnt receptor signaling pathway; Wnt receptor signaling pathway, planar cell polarity pathway; positive regulation of protein tyrosine kinase activity; cochlea morphogenesis; planar cell polarity pathway involved in neural tube closure; positive regulation of canonical Wnt receptor signaling pathway; cell migration in hindbrain; neural tube closure; positive regulation of protein phosphorylation; heart morphogenesis; outflow tract morphogenesis; transcription from RNA polymerase II promoter; multicellular organismal development; s | 17p13.1 |
| DVL3 | intracellular signal transduction; positive regulation of protein phosphorylation; outflow tract septum morphogenesis; multicellular organismal development; Wnt receptor signaling pathway; non-canonical Wnt receptor signaling pathway; response to drug; positive regulation of JUN kinase activity; positive regulation of transcription, DNA-dependent; convergent extension; canonical Wnt receptor signaling pathway; Wnt receptor signaling pathway, planar cell polarity pathway; cochlea morphogenesis; planar cell polarity pathway involved in neural tube closure | 3q27 |
| DXO | - | 6p21.3 |
| DYDC1 | - | 10q23.1 |
| DYDC2 | - | 10q23.1 |
| DYM | - | 18q21.1 |
| DYNAP | - | 18q21.2 |
| DYNC1H1 | microtubule-based movement; mitotic spindle organization; stress granule assembly; cytoplasmic mRNA processing body assembly; G2/M transition of mitotic cell cycle; mitotic cell cycle; transport | 14q32 |
| DYNC1I1 | vesicle transport along microtubule; transport | 7q21.3-q22.1 |
| DYNC1I2 | interspecies interaction between organisms; microtubule-based movement; transport; mitotic cell cycle; G2/M transition of mitotic cell cycle | 2q31.1 |
| DYNC1I2P1 | - | 10q11.23 |
| DYNC1LI1 | transport; positive regulation of mitotic cell cycle spindle assembly checkpoint; cell division; regulation of centrosome cycle; interspecies interaction between organisms; mitosis; cell cycle | 3p22.3 |
| DYNC1LI2 | transport | 16q22.1 |
| DYNC2H1 | cell projection organization; multicellular organismal development; Golgi organization; microtubule-based movement | 11q21-q22.1 |
| DYNC2LI1 | multicellular organismal development; determination of left/right symmetry; cell projection organization; cilium assembly | 2p25.1-p24.1 |
| DYNLL1 | interspecies interaction between organisms; negative regulation of phosphorylation; actin cytoskeleton organization; microtubule-based process; apoptotic process; transport; regulation of transcription, DNA-dependent; mitotic cell cycle; G2/M transition of mitotic cell cycle; anatomical structure morphogenesis; activation of pro-apoptotic gene products; induction of apoptosis by intracellular signals; female gamete generation | 12q24.23 |
| DYNLL1P1 | - | 14q31.1 |
| DYNLL1P2 | - | 14q31.1 |
| DYNLL2 | induction of apoptosis by intracellular signals; activation of pro-apoptotic gene products; synaptic target recognition; apoptotic process; microtubule-based process; transport | 17q22 |
| DYNLRB1 | transport; microtubule-based movement; visual behavior | 20q11.21 |
| DYNLRB2 | transport; microtubule-based movement | 16q23.3 |
| DYNLT1 | cell division; regulation of cytoskeleton organization; negative regulation of neurogenesis; neuron projection morphogenesis; interspecies interaction between organisms; establishment of mitotic spindle orientation; regulation of Rac GTPase activity; intracellular transport of viral proteins in host cell; transport; cell cycle; mitosis; nervous system development; regulation of G-protein coupled receptor protein signaling pathway | 6q25.2-q25.3 |
| DYNLT3 | cell cycle; transport; cell division; regulation of mitotic cell cycle; mitosis | Xp21 |
| DYNLT3P1 | - | 20p12.1 |
| DYNLT3P2 | - | - |
| DYRK1A | protein autophosphorylation; protein phosphorylation; peptidyl-tyrosine phosphorylation; mitotic cell cycle; nervous system development | 21q22.13 |
| DYRK1B | positive regulation of transcription, DNA-dependent; myoblast fusion; protein phosphorylation | 19q13.2 |
| DYRK2 | DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; positive regulation of glycogen biosynthetic process; protein phosphorylation; apoptotic process; response to DNA damage stimulus; smoothened signaling pathway | 12q15 |
| DYRK3 | protein phosphorylation; erythrocyte differentiation | 1q32.1 |
| DYRK4 | protein phosphorylation | 12p13.32 |
| DYSF | - | 2p13.3 |
| DYTN | - | 2q33.3 |
| DYX1C1 | nervous system development; regulation of proteasomal protein catabolic process; neuron migration; regulation of intracellular estrogen receptor signaling pathway | 15q21.3 |
| DZANK1 | - | 20p11.23 |
| DZIP1 | multicellular organismal development; germ cell development; spermatogenesis; cell differentiation | 13q32.1 |
| DZIP1L | - | 3q22.3 |
| DZIP3 | protein polyubiquitination | 3q13.13 |
| E2F1 | positive regulation of transcription, DNA-dependent; regulation of G1/S transition of mitotic cell cycle; negative regulation of transcription involved in G1/S phase of mitotic cell cycle; cellular response to hypoxia; cellular response to fatty acid; regulation of cell cycle; mRNA stabilization; positive regulation of fibroblast proliferation; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; forebrain development; positive regulation of gene expression; spermatogenesis; cell proliferation; DNA damage checkpoint; G1 phase of mitotic cell cycle; G1/S transition of mitotic cell cycle; G2 phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; mitotic cell cycle; regulation of transcription, DNA-dependent; apoptotic process | 20q11.2 |
| E2F2 | G1 phase of mitotic cell cycle; mitotic cell cycle; regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase II promoter; apoptotic process; regulation of cell cycle | 1p36 |
| E2F3 | mitotic cell cycle; G2 phase of mitotic cell cycle; G1 phase of mitotic cell cycle; positive regulation of cell proliferation; transcription initiation from RNA polymerase II promoter; regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent | 6p22 |
| E2F3-IT1 | - | - |
| E2F4 | G1 phase of mitotic cell cycle; regulation of transcription involved in G1/S phase of mitotic cell cycle; mitotic cell cycle; epithelial cell development; regulation of transcription, DNA-dependent; cell volume homeostasis; blood circulation; regulation of cell size; organ morphogenesis; regulation of cell proliferation; cilium assembly | 16q21-q22 |
| E2F4P1 | - | 6p21.2 |
| E2F5 | regulation of transcription, DNA-dependent; mitotic cell cycle; G1 phase of mitotic cell cycle; organ morphogenesis | 8q21.2 |
| E2F6 | regulation of transcription involved in G1/S phase of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; cell cycle | 2p25.1 |
| E2F7 | cell cycle; negative regulation of cell proliferation | 12q21.2 |
| E2F8 | cell cycle | 11p15.1 |
| E4F1 | cell proliferation; regulation of mitotic cell cycle, embryonic; embryo development; cell division; regulation of cell cycle process; regulation of growth; interspecies interaction between organisms; mitosis; cell cycle; regulation of transcription, DNA-dependent; DNA replication; negative regulation of transcription from RNA polymerase II promoter; mitotic cell cycle arrest | 16p13.3 |
| EAF1 | regulation of transcription, DNA-dependent | 3p25.1 |
| EAF1-AS1 | - | - |
| EAF2 | positive regulation of transcription, DNA-dependent; negative regulation of epithelial cell proliferation involved in prostate gland development; negative regulation of cell growth; induction of apoptosis; apoptotic process | 3q13.33 |
| EAPP | negative regulation of transcription elongation from RNA polymerase II promoter; positive regulation of transcription elongation from RNA polymerase II promoter; positive regulation of cell proliferation | 14q13.1 |
| EARS2 | tRNA aminoacylation for mitochondrial protein translation; tRNA aminoacylation for protein translation; gene expression; glutamyl-tRNA aminoacylation | 16p12.2 |
| EBAG9 | apoptotic process; regulation of cell growth | 8q23 |
| EBF1 | multicellular organismal development; positive regulation of transcription, DNA-dependent | 5q34 |
| EBF2 | multicellular organismal development; regulation of transcription, DNA-dependent | 8p21.2 |
| EBF3 | regulation of transcription, DNA-dependent; multicellular organismal development | 10q26.3 |
| EBF4 | multicellular organismal development; regulation of transcription, DNA-dependent | 20p13 |
| EBI3 | positive regulation of interferon-gamma biosynthetic process; positive regulation of alpha-beta T cell proliferation; humoral immune response; cytokine-mediated signaling pathway; T-helper 1 type immune response | 19p13.3 |
| EBLN2 | - | 3p13 |
| EBLN3 | - | 9p13.2 |
| EBP | cholesterol metabolic process; drug transmembrane transport; cholesterol biosynthetic process; small molecule metabolic process; skeletal system development; hemopoiesis | Xp11.23-p11.22 |
| EBPL | sterol metabolic process | 13q12-q13 |
| ECD | regulation of transcription, DNA-dependent; regulation of glycolysis; transcription from RNA polymerase II promoter | 10q22.3 |
| ECE1 | protein processing; bradykinin catabolic process; peptide hormone processing; calcitonin catabolic process; positive regulation of G-protein coupled receptor protein signaling pathway; regulation of vasoconstriction; endothelin maturation; hormone catabolic process; embryonic digit morphogenesis; ear development; substance P catabolic process; heart development; apoptotic process; proteolysis; regulation of systemic arterial blood pressure by endothelin; positive regulation of receptor recycling; response to hypoxia; pharyngeal system development | 1p36.1 |
| ECE2 | heart development; proteolysis; cell-cell signaling; brain development; cardioblast differentiation; peptide hormone processing | 3q27.1|. |
| ECEL1 | intracellular signal transduction; proteolysis; neuropeptide signaling pathway; metabolic process | 2q37.1 |
| ECEL1P2 | - | 2q37.1 |
| ECEL1P3 | - | 2q37.1 |
| ECH1 | lipid metabolic process; fatty acid metabolic process | 19q13.1 |
| ECHDC1 | - | 6q22.33 |
| ECHDC2 | fatty acid metabolic process; lipid metabolic process | 1p32.3 |
| ECHDC3 | - | 10p14 |
| ECHS1 | fatty acid metabolic process; fatty acid beta-oxidation; cellular lipid metabolic process; small molecule metabolic process | 10q26.2-q26.3 |
| ECI1 | fatty acid beta-oxidation; fatty acid metabolic process; cellular lipid metabolic process; small molecule metabolic process | 16p13.3 |
| ECI2 | fatty acid catabolic process | 6p24.3 |
| ECM1 | ossification; positive regulation of endothelial cell proliferation; signal transduction; negative regulation of peptidase activity; negative regulation of bone mineralization; biomineral tissue development; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of angiogenesis | 1q21 |
| ECM2 | positive regulation of cell-substrate adhesion; cell-matrix adhesion; extracellular matrix organization | 9q22.3 |
| ECRP | - | 14q11.2 |
| ECSCR | cell differentiation; multicellular organismal development; chemotaxis; angiogenesis | 5q31.2 |
| ECSIT | innate immune response; regulation of oxidoreductase activity | 19p13.2 |
| ECT2 | protein homooligomerization; positive regulation of neuron differentiation; regulation of protein kinase activity; nerve growth factor receptor signaling pathway; apoptotic process; cell morphogenesis; regulation of small GTPase mediated signal transduction; signal transduction; cell division; regulation of attachment of spindle microtubules to kinetochore; cellular response to hydrogen peroxide; tight junction assembly; cellular response to calcium ion; cellular response to ionizing radiation; positive regulation of cell cycle cytokinesis; positive regulation of Cdc42 GTPase activity; positive regulation of I-kappaB kinase/NF-kappaB cascade; cell cycle; small GTPase mediated signal transduction; nervous system development; induction of apoptosis by extracellular signals; protein transport; cell differentiation; activation of protein kinase activity; positive regulation of Rho GTPase activity; activation of Rho GTPase activity; activation of Rac GTPase activity; cell cycle cytokinesis; regulation of Rho prote | 3q26.1-q26.2 |
| ECT2L | regulation of Rho protein signal transduction | 6q24.1 |
| EDA | positive regulation of canonical Wnt receptor signaling pathway; cell-matrix adhesion; trachea gland development; hair follicle placode formation; salivary gland cavitation; positive regulation of NF-kappaB transcription factor activity; skin development; pigmentation; positive regulation of I-kappaB kinase/NF-kappaB cascade; odontogenesis of dentin-containing tooth; positive regulation of NF-kappaB import into nucleus; cell differentiation; gene expression; ectoderm development; multicellular organismal development; signal transduction; immune response | Xq12-q13.1 |
| EDA2R | epidermis development; embryo development; cell differentiation; tumor necrosis factor-mediated signaling pathway; positive regulation of JNK cascade; positive regulation of NF-kappaB transcription factor activity | Xq12 |
| EDAR | hair follicle development; signal transduction; multicellular organismal development; epidermis development; cell differentiation; positive regulation of NF-kappaB import into nucleus; odontogenesis of dentin-containing tooth; pigmentation; apoptotic process; salivary gland cavitation | 2q13 |
| EDARADD | cell differentiation; multicellular organismal development; signal transduction; hair follicle development; odontogenesis of dentin-containing tooth; trachea gland development | 1q42.3 |
| EDC3 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; mRNA metabolic process; RNA metabolic process; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; gene expression | 15q24.1 |
| EDC4 | gene expression; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; RNA metabolic process; mRNA metabolic process; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 16q22.1 |
| EDEM1 | protein N-linked glycosylation via asparagine; cellular protein metabolic process; post-translational protein modification; endoplasmic reticulum unfolded protein response; ER-associated protein catabolic process; protein folding; response to unfolded protein; activation of signaling protein activity involved in unfolded protein response | 3p26.1 |
| EDEM2 | response to unfolded protein; protein folding; cellular protein metabolic process; post-translational protein modification; protein N-linked glycosylation via asparagine | 20q11.22 |
| EDEM3 | protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process; proteasomal ubiquitin-dependent protein catabolic process; response to unfolded protein; protein folding; glycoprotein catabolic process | 1q25 |
| EDF1 | regulation of transcription, DNA-dependent; multicellular organismal development; regulation of lipid metabolic process; cell differentiation; positive regulation of DNA binding; endothelial cell differentiation; positive regulation of transcription, DNA-dependent | 9q34.3 |
| EDIL3 | multicellular organismal development; positive regulation of cell-substrate adhesion; cell adhesion | 5q14 |
| EDN1 | negative regulation of transcription from RNA polymerase II promoter; prostaglandin biosynthetic process; maternal process involved in parturition; response to nicotine; negative regulation of smooth muscle cell apoptosis; response to testosterone stimulus; response to lipopolysaccharide; negative regulation of cellular protein metabolic process; activation of phospholipase D activity by G-protein coupled receptor protein signaling pathway; negative regulation of cAMP biosynthetic process; neutrophil chemotaxis; positive regulation of cell migration; negative regulation of nitric-oxide synthase biosynthetic process; membrane depolarization; regulation of sensory perception of pain; positive regulation of urine volume; positive regulation of sarcomere organization; positive regulation of prostaglandin-endoperoxide synthase activity; positive regulation of chemokine-mediated signaling pathway; cellular response to interleukin-1; cellular response to tumor necrosis factor; positive regulation of neutrophil chemo | 6p24.1 |
| EDN2 | calcium-mediated signaling; positive regulation of prostaglandin-endoperoxide synthase activity; neutrophil chemotaxis; vein smooth muscle contraction; regulation of vasoconstriction; cytokine-mediated signaling pathway; macrophage chemotaxis; macrophage activation; vasoconstriction; positive regulation of smooth muscle contraction; positive regulation of hormone secretion; negative regulation of hormone secretion; inositol phosphate-mediated signaling; artery smooth muscle contraction; positive regulation of heart rate; positive regulation of cell proliferation; regulation of blood pressure; activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway; elevation of cytosolic calcium ion concentration; cell surface receptor signaling pathway; regulation of systemic arterial blood pressure by endothelin; positive regulation of the force of heart contraction by chemical signal; hormonal regulation of the force of heart contraction; positive regulation of leukocyte chemotaxis; | 1p34 |
| EDN3 | regulation of developmental pigmentation; peptide hormone secretion; neural crest cell migration; positive regulation of leukocyte chemotaxis; regulation of systemic arterial blood pressure by endothelin; signal transduction; cell surface receptor signaling pathway; cell-cell signaling; multicellular organismal development; blood circulation; positive regulation of cell proliferation; positive regulation of heart rate; artery smooth muscle contraction; vein smooth muscle contraction; regulation of vasoconstriction; neuron differentiation; melanocyte differentiation; regulation of cell migration; neutrophil chemotaxis; vasoconstriction; positive regulation of MAP kinase activity; positive regulation of mitosis; positive regulation of hormone secretion; negative regulation of hormone secretion; regulation of neurotransmitter secretion; inositol phosphate-mediated signaling | 20q13.2-q13.3 |
| EDNRA | positive regulation of protein phosphorylation; histamine secretion; response to hypoxia; in utero embryonic development; response to lipopolysaccharide; patterning of blood vessels; regulation of epithelial cell proliferation; positive regulation of neutrophil chemotaxis; cellular response to mechanical stimulus; positive regulation of ERK1 and ERK2 cascade; head development; maternal process involved in parturition; positive regulation of calcium ion transport; elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger; positive regulation of release of sequestered calcium ion into cytosol; positive regulation of inflammatory response; smooth muscle contraction; smooth muscle cell proliferation; fibroblast proliferation; response to morphine; penile erection; negative regulation of apoptotic process; positive regulation of odontogenesis; vasoconstriction; specification of segmental identity, mandibular segment; negative regulation of cAMP biosynthetic pr | 4q31.22 |
| EDNRB | enteric smooth muscle cell differentiation; neural crest cell migration; enteric nervous system development; macrophage chemotaxis; developmental pigmentation; vasoconstriction; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cellular protein metabolic process; melanocyte differentiation; vein smooth muscle contraction; negative regulation of neuron maturation; posterior midgut development; peripheral nervous system development; nervous system development; activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger; negative regulation of adenylate cyclase activity; cell surface receptor signaling pathway; regulation of pH; regulation of blood pressure | 13q22 |
| EDRF1 | regulation of transcription, DNA-dependent | 10q26.13 |
| EEA1 | early endosome to late endosome transport; synaptic vesicle to endosome fusion; vesicle fusion; endocytosis | 12q22 |
| EED | regulation of gene expression by genetic imprinting; chromatin modification; histone methylation; negative regulation of transcription, DNA-dependent | 11q14.2-q22.3 |
| EEF1A1 | regulation of transcription, DNA-dependent; cellular protein metabolic process; gene expression; translational elongation; translation | 6q14.1 |
| EEF1A1P1 | - | 21q21.1 |
| EEF1A1P10 | - | - |
| EEF1A1P11 | - | 1p21.3 |
| EEF1A1P12 | - | 2q12.2 |
| EEF1A1P13 | - | 5p15.1 |
| EEF1A1P14 | - | 1q31.3 |
| EEF1A1P15 | - | Xq21.33 |
| EEF1A1P16 | - | 12p12.3 |
| EEF1A1P17 | - | 12q12 |
| EEF1A1P19 | - | - |
| EEF1A1P2 | - | 14q31.1 |
| EEF1A1P20 | - | - |
| EEF1A1P21 | - | - |
| EEF1A1P22 | - | 15q21.3 |
| EEF1A1P24 | - | 3p22.1 |
| EEF1A1P25 | - | 3q22.3 |
| EEF1A1P26 | - | 7p21.2 |
| EEF1A1P27 | - | 7p21.1 |
| EEF1A1P28 | - | 7q21.13 |