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
• AIRE: autoimmune regulator
• ALS2: amyotrophic lateral sclerosis 2 (juvenile)
• ANG: angiogenin, ribonuclease, RNase A family, 5
• APC: adenomatous polyposis coli
• APOE: apolipoprotein E
• APTX: aprataxin
• AR: androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
• ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
• ATM: ataxia telangiectasia mutated
• ATP7A: ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)
• BARD1: BRCA1 associated RING domain 1
• BCOR: BCL6 co-repressor
• BLM: Bloom syndrome
• 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
• CCM2: cerebral cavernous malformation 2
• CD40LG: CD40 ligand
• CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
• CHEK2: CHK2 checkpoint homolog (S. pombe)
• 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 II
• CREBBP: CREB binding protein (Rubinstein-Taybi syndrome)
• CTNND2: catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
• DIRAS3: DIRAS family, GTP-binding RAS-like 3
• DMPK: dystrophia myotonica-protein kinase
• 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
• EIF2B4: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
• EIF2B5: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
• ENG: endoglin (Osler-Rendu-Weber syndrome 1)
• 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
• F2: coagulation factor II (thrombin)
• FGD1: FYVE, RhoGEF and PH domain containing 1
• FGFR1: fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
• FGFR2: fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)
• FGFR3: fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
• FGFR4: fibroblast growth factor receptor 4
• FGFRL1: fibroblast growth factor receptor-like 1
• FLNA: filamin A, alpha (actin binding protein 280)
• FLT4: fms-related tyrosine kinase 4
• FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
• FOXL2: forkhead box L2
• FOXP3: forkhead box P3
• GLA: galactosidase, alpha
• GLI3: GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)
• 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 II, i
• GTF2IRD1: GTF2I repeat domain containing 1
• HBB: hemoglobin, beta
• HPRT1: hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)
• 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
• IL2RG: interleukin 2 receptor, gamma (severe combined immunodeficiency)
• JAG1: jagged 1 (Alagille syndrome)
• 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
• LIMK1: LIM domain kinase 1
• LITAF: lipopolysaccharide-induced TNF factor
• LMX1B: LIM homeobox transcription factor 1, beta
• 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)
• MEN1: multiple endocrine neoplasia I
• MFN2: mitofusin 2
• MITF: microphthalmia-associated transcription factor
• MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
• MSTN: myostatin
• MYO6: myosin VI
• NBN: nibrin
• NDP: Norrie disease (pseudoglioma)
• NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
• NF2: neurofibromin 2 (merlin)
• NLRP12: NLR family, pyrin domain containing 12
• 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
• NSD1: nuclear receptor binding SET domain protein 1
• 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
• PRODH: proline dehydrogenase (oxidase) 1
• PROK2: prokineticin 2
• PSEN1: presenilin 1 (Alzheimer disease 3)
• PSEN2: presenilin 2 (Alzheimer disease 4)
• PTCH1: patched homolog 1 (Drosophila)
• PTEN: phosphatase and tensin homolog (mutated in multiple advanced cancers 1)
• 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 (including osteosarcoma)
• RET: ret proto-oncogene
• ROR2: receptor tyrosine kinase-like orphan receptor 2
• RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
• RUNX2: runt-related transcription factor 2
• SAA1: serum amyloid A1
• SBDS: Shwachman-Bodian-Diamond syndrome
• 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 (synphilin)
• SOD1: superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))
• SOS1: son of sevenless homolog 1 (Drosophila)
• 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
• 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
• TWIST1: twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)
• TYROBP: TYRO protein tyrosine kinase binding protein
• USH2A: Usher syndrome 2A (autosomal recessive, mild)
• VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
• VHL: von Hippel-Lindau tumor suppressor
• WFS1: Wolfram syndrome 1 (wolframin)
• WRN: Werner syndrome
• ZEB2: zinc finger E-box binding homeobox 2

Source: Gene Ontology Consortium (September 2008).