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Regulation of cellular process

Regulation of cellular process

  • ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
  • ACVR1: activin A receptor, type I
  • ACVRL1: activin A receptor type II-like 1
  • ADA: adenosine deaminase
  • ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
  • AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
  • AIRE: autoimmune regulator
  • ALS2: amyotrophic lateral sclerosis 2 (juvenile)
  • AMELX: amelogenin (amelogenesis imperfecta 1, X-linked)
  • ANG: angiogenin, ribonuclease, RNase A family, 5
  • APC: adenomatous polyposis coli
  • APOB: apolipoprotein B (including Ag(x) antigen)
  • APOE: apolipoprotein E
  • AR: androgen receptor
  • ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
  • ATM: ataxia telangiectasia mutated
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide
  • ATRX: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
  • BARD1: BRCA1 associated RING domain 1
  • BCOR: BCL6 co-repressor
  • BLM: Bloom syndrome, RecQ helicase-like
  • BMPR1A: bone morphogenetic protein receptor, type IA
  • BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
  • BRAF: v-raf murine sarcoma viral oncogene homolog B1
  • BRCA1: breast cancer 1, early onset
  • BRCA2: breast cancer 2, early onset
  • BRIP1: BRCA1 interacting protein C-terminal helicase 1
  • BTK: Bruton agammaglobulinemia tyrosine kinase
  • CACNB4: calcium channel, voltage-dependent, beta 4 subunit
  • CCM2: cerebral cavernous malformation 2
  • CD40LG: CD40 ligand
  • CDH1: cadherin 1, type 1, E-cadherin (epithelial)
  • CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
  • CHD7: chromodomain helicase DNA binding protein 7
  • CHEK2: CHK2 checkpoint homolog (S. pombe)
  • CHRNA2: cholinergic receptor, nicotinic, alpha 2 (neuronal)
  • CHRNA4: cholinergic receptor, nicotinic, alpha 4
  • CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • CNBP: CCHC-type zinc finger, nucleic acid binding protein
  • CNGA3: cyclic nucleotide gated channel alpha 3
  • CNGB3: cyclic nucleotide gated channel beta 3
  • COL1A2: collagen, type I, alpha 2
  • COL3A1: collagen, type III, alpha 1
  • COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
  • COL4A4: collagen, type IV, alpha 4
  • CPT2: carnitine palmitoyltransferase 2
  • CREBBP: CREB binding protein
  • CTNND2: catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
  • DIRAS3: DIRAS family, GTP-binding RAS-like 3
  • DNM2: dynamin 2
  • DRD3: dopamine receptor D3
  • DUOX2: dual oxidase 2
  • EDA: ectodysplasin A
  • EDARADD: EDAR-associated death domain
  • EDN3: endothelin 3
  • EDNRB: endothelin receptor type B
  • EIF2B2: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
  • EIF2B3: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
  • EIF2B4: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
  • EIF2B5: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
  • ENG: endoglin
  • EP300: E1A binding protein p300
  • ERBB2: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
  • ERCC6: excision repair cross-complementing rodent repair deficiency, complementation group 6
  • EXT1: exostoses (multiple) 1
  • EXT2: exostoses (multiple) 2
  • EYA1: eyes absent homolog 1 (Drosophila)
  • F12: coagulation factor XII (Hageman factor)
  • F2: coagulation factor II (thrombin)
  • FGD1: FYVE, RhoGEF and PH domain containing 1
  • FGFR1: fibroblast growth factor receptor 1
  • FGFR2: fibroblast growth factor receptor 2
  • FGFR3: fibroblast growth factor receptor 3
  • FGFR4: fibroblast growth factor receptor 4
  • FGFRL1: fibroblast growth factor receptor-like 1
  • FLNA: filamin A, alpha
  • FLT4: fms-related tyrosine kinase 4
  • FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
  • FOXL2: forkhead box L2
  • FOXP3: forkhead box P3
  • FXN: frataxin
  • G6PD: glucose-6-phosphate dehydrogenase
  • GJA1: gap junction protein, alpha 1, 43kDa
  • GLA: galactosidase, alpha
  • GLI3: GLI family zinc finger 3
  • GNAS: GNAS complex locus
  • GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
  • GPR143: G protein-coupled receptor 143
  • GPR98: G protein-coupled receptor 98
  • GTF2I: general transcription factor IIi
  • GTF2IRD1: GTF2I repeat domain containing 1
  • HBB: hemoglobin, beta
  • HPRT1: hypoxanthine phosphoribosyltransferase 1
  • HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
  • HSPB1: heat shock 27kDa protein 1
  • HTT: huntingtin
  • IGF2: insulin-like growth factor 2 (somatomedin A)
  • IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
  • IKBKG: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
  • IL1A: interleukin 1, alpha
  • IL2RG: interleukin 2 receptor, gamma (severe combined immunodeficiency)
  • JAG1: jagged 1 (Alagille syndrome)
  • JPH3: junctophilin 3
  • KRAS: v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
  • KRIT1: KRIT1, ankyrin repeat containing
  • KRT6A: keratin 6A
  • LDLRAP1: low density lipoprotein receptor adaptor protein 1
  • LEPRE1: leucine proline-enriched proteoglycan (leprecan) 1
  • LIMK1: LIM domain kinase 1
  • LITAF: lipopolysaccharide-induced TNF factor
  • LMX1B: LIM homeobox transcription factor 1, beta
  • LRP5: low density lipoprotein receptor-related protein 5
  • LRRK2: leucine-rich repeat kinase 2
  • LYST: lysosomal trafficking regulator
  • MAP2K1: mitogen-activated protein kinase kinase 1
  • MAP2K2: mitogen-activated protein kinase kinase 2
  • MC1R: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
  • MECP2: methyl CpG binding protein 2 (Rett syndrome)
  • MED12: mediator complex subunit 12
  • MEN1: multiple endocrine neoplasia I
  • MFN2: mitofusin 2
  • MITF: microphthalmia-associated transcription factor
  • MSTN: myostatin
  • MYCN: v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
  • MYO6: myosin VI
  • NBN: nibrin
  • NDP: Norrie disease (pseudoglioma)
  • NF1: neurofibromin 1
  • NF2: neurofibromin 2 (merlin)
  • NLRP12: NLR family, pyrin domain containing 12
  • NLRP3: NLR family, pyrin domain containing 3
  • NOD2: nucleotide-binding oligomerization domain containing 2
  • NOTCH2: Notch homolog 2 (Drosophila)
  • NPC2: Niemann-Pick disease, type C2
  • NR0B1: nuclear receptor subfamily 0, group B, member 1
  • NR4A2: nuclear receptor subfamily 4, group A, member 2
  • NR5A1: nuclear receptor subfamily 5, group A, member 1
  • NSD1: nuclear receptor binding SET domain protein 1
  • OPA1: optic atrophy 1 (autosomal dominant)
  • OPN1LW: opsin 1 (cone pigments), long-wave-sensitive
  • OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive
  • OPN1SW: opsin 1 (cone pigments), short-wave-sensitive
  • PARK7: Parkinson disease (autosomal recessive, early onset) 7
  • PAX8: paired box 8
  • PCSK9: proprotein convertase subtilisin/kexin type 9
  • PINK1: PTEN induced putative kinase 1
  • PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
  • PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
  • PROC: protein C (inactivator of coagulation factors Va and VIIIa)
  • PRODH: proline dehydrogenase (oxidase) 1
  • PROK2: prokineticin 2
  • PSEN1: presenilin 1
  • PSEN2: presenilin 2 (Alzheimer disease 4)
  • PTCH1: patched homolog 1 (Drosophila)
  • PTEN: phosphatase and tensin homolog
  • PTPN11: protein tyrosine phosphatase, non-receptor type 11
  • RAD50: RAD50 homolog (S. cerevisiae)
  • RAD51: RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)
  • RAF1: v-raf-1 murine leukemia viral oncogene homolog 1
  • RB1: retinoblastoma 1
  • RET: ret proto-oncogene
  • ROR2: receptor tyrosine kinase-like orphan receptor 2
  • RPS19: ribosomal protein S19
  • RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
  • RUNX2: runt-related transcription factor 2
  • RYR1: ryanodine receptor 1 (skeletal)
  • SAA1: serum amyloid A1
  • SBDS: Shwachman-Bodian-Diamond syndrome
  • SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
  • SH3BP2: SH3-domain binding protein 2
  • SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
  • SMAD4: SMAD family member 4
  • SMARCAL1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
  • SMC1A: structural maintenance of chromosomes 1A
  • SMC3: structural maintenance of chromosomes 3
  • SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal
  • SNAI2: snail homolog 2 (Drosophila)
  • SNCA: synuclein, alpha (non A4 component of amyloid precursor)
  • SNCAIP: synuclein, alpha interacting protein
  • SOD1: superoxide dismutase 1, soluble
  • SOS1: son of sevenless homolog 1 (Drosophila)
  • SOST: sclerosteosis
  • SOX2: SRY (sex determining region Y)-box 2
  • STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
  • STK11: serine/threonine kinase 11
  • TBX1: T-box 1
  • TBX5: T-box 5
  • TEK: TEK tyrosine kinase, endothelial
  • TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
  • TG: thyroglobulin
  • TGFB1: transforming growth factor, beta 1
  • TGFBR2: transforming growth factor, beta receptor II (70/80kDa)
  • TP53: tumor protein p53
  • TRAPPC2: trafficking protein particle complex 2
  • TRIOBP: TRIO and F-actin binding protein
  • TSC1: tuberous sclerosis 1
  • TSC2: tuberous sclerosis 2
  • TSHB: thyroid stimulating hormone, beta
  • TSHR: thyroid stimulating hormone receptor
  • TTN: titin
  • TWIST1: twist homolog 1 (Drosophila)
  • TYROBP: TYRO protein tyrosine kinase binding protein
  • USH2A: Usher syndrome 2A (autosomal recessive, mild)
  • USP9Y: ubiquitin specific peptidase 9, Y-linked
  • VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
  • VCP: valosin-containing protein
  • VHL: von Hippel-Lindau tumor suppressor
  • VLDLR: very low density lipoprotein receptor
  • WFS1: Wolfram syndrome 1 (wolframin)
  • WRN: Werner syndrome, RecQ helicase-like
  • WT1: Wilms tumor 1
  • YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
  • ZAP70: zeta-chain (TCR) associated protein kinase 70kDa
  • ZEB2: zinc finger E-box binding homeobox 2

Source: Gene Ontology ConsortiumThis link leads to a site outside Genetics Home Reference. (June 2009).

 
Published: November 20, 2009